question
stringlengths
84
268
answer
stringlengths
6
879
reference_sequence
stringlengths
4.1k
4.1k
mutated_sequence
stringlengths
4.1k
4.1k
cleaned_pathogenicity
stringclasses
2 values
__index_level_0__
int64
67
343k
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 42929917, gene SLC2A1 (solute carrier family 2 member 1): what disease(s) if pathogenic?
pathogenic; ['Encephalopathy_due_to_GLUT1_deficiency', 'GLUT1_deficiency_syndrome_1,_autosomal_recessive']
AACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGG
AACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGN
pathogenic
7,528
A genetic variant at chromosome 1, position 42930634, affecting gene SLC2A1 (solute carrier family 2 member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
pathogenic; ['Childhood_onset_GLUT1_deficiency_syndrome_2', 'Encephalopathy_due_to_GLUT1_deficiency', 'GLUT1_deficiency_syndrome_1,_autosomal_recessive']
AGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTC
AGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCNNN
pathogenic
7,541
Is chromosome 1, position 42959040, gene SLC2A1 (solute carrier family 2 member 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
benign
GCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCATGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACACCACCTCATCCTCCTTCCCTCCCCTGCTGTCTGCAGGGCCTCCATCTCCTCTGGTCTTTTGTCCTCCAGTCCTGCACCCTGCCACTCTCCTGCTCATCTGTCTGAAATTGTCATGGAGGGAGTAAGGGCCAAGCCTGGCCATCACGGTCCTTCTTCATGGCACCAGTTTACACGCTCAGCCTCGCCCCTCACACCAGCAACTCACATCCACACATTTGCTCAGCTTGTCTCCTCTGCCTGGGAAGCCCTCCCCGACCTCACCATGCCAAAAAGCACCATGGGTCCTTCCTCCTCCGGGAAGTGTCCCTGGTTCTCCCAAGTGGAAATCTTTCTCTCCTTTACCATTTGGTGTTTTGTAGGTTGCCACTTGTCCTCTGTCTGCCTTCCCTCA
GCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCATGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACACCACCTCATCCTCCTTCCCTCCCCTGCTGTCTGCAGGGCCTCCATCTCCTCTGGTCTTTTGTCCTCCAGTCCTGCACCCTGCCACTCTCCTGCTCATCTGTCTGAAATTGTCATGGAGGGAGTAAGGGCCAAGCCTGGCCATCACGGTCCTTCTTCATGGCACCAGTTTACACGCTCAGCCTCGCCCCTCACACCAGCAACTCACATCCACACATTTGCTCAGCTTGTCTCCTCTGCCTGGGAAGCCCTCCCCGACCTCACCATGCCAAAAAGCACCATGGGTCCTTCCTCCTCCGGGAAGTGTCCCTGGTTCTCCCAAGTGGAAATCTTTCTCTCCTTTACCATTTGGTGTTTTGTAGGTTGCCACTTGTCCTCTGTCTGCCTTCCCTCAN
benign
7,599
A genetic variant on chromosome 1, position 43338558, affects the gene MPL (MPL proto-oncogene, thrombopoietin receptor). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Congenital_amegakaryocytic_thrombocytopenia', 'Congenital_amegakaryocytic_thrombocytopenia_1', 'Essential_thrombocythemia', 'Primary_myelofibrosis', 'Thrombocythemia_2']
TGGTCTCAAACTCCTGACCTCAGATGATCCACCCAGCTCGGCCTCCCAAAGTGCTGGTATTATAGGTGTGAGCCACTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCAC
TGGTCTCAAACTCCTGACCTCAGATGATCCACCCAGCTCGGCCTCCCAAAGTGCTGGTATTATAGGTGTGAGCCACTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACN
pathogenic
7,613
Determine whether the variant at chromosome 1, position 43338563, in gene MPL (MPL proto-oncogene, thrombopoietin receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Congenital_amegakaryocytic_thrombocytopenia', 'Congenital_amegakaryocytic_thrombocytopenia_1', 'Essential_thrombocythemia', 'Primary_myelofibrosis', 'Thrombocythemia_2', 'likely other unspecified diseases']
TCAAACTCCTGACCTCAGATGATCCACCCAGCTCGGCCTCCCAAAGTGCTGGTATTATAGGTGTGAGCCACTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCC
TCAAACTCCTGACCTCAGATGATCCACCCAGCTCGGCCTCCCAAAGTGCTGGTATTATAGGTGTGAGCCACTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCNN
pathogenic
7,614
Variant at chromosome position 43338636, chromosome 1, gene MPL (MPL proto-oncogene, thrombopoietin receptor): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['Congenital_amegakaryocytic_thrombocytopenia', 'Congenital_amegakaryocytic_thrombocytopenia_1', 'Essential_thrombocythemia', 'Primary_myelofibrosis', 'Thrombocythemia_2']
CACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTTAT
CACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTTATN
pathogenic
7,619
Does the variant impacting MPL (MPL proto-oncogene, thrombopoietin receptor) on chromosome 1, position 43338638, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Congenital_amegakaryocytic_thrombocytopenia', 'Essential_thrombocythemia']
CCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTTATCT
CCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTTATCTNNNN
pathogenic
7,620
Is the variant located on chromosome 1 at position 43338704, gene MPL (MPL proto-oncogene, thrombopoietin receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['Congenital_amegakaryocytic_thrombocytopenia', 'Congenital_amegakaryocytic_thrombocytopenia_1', 'Essential_thrombocythemia', 'MPL-related_disorder', 'Primary_myelofibrosis', 'Thrombocythemia_2', 'likely other unspecified diseases']
TTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTTATCTTCTCAACCCCTCTCTGTTCCCATTGGGAATGCTTTGGTTTAGTTTAGCCTTAATCATGTCACTGGG
TTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTTATCTTCTCAACCCCTCTCTGTTCCCATTGGGAATGCTTTGGTTTAGTTTAGCCTTAATCATGTCACTGGGN
pathogenic
7,625
A genetic alteration at chromosome 1, position 43339291, in gene MPL (MPL proto-oncogene, thrombopoietin receptor)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Congenital_amegakaryocytic_thrombocytopenia', 'Essential_thrombocythemia']
CACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTTATCTTCTCAACCCCTCTCTGTTCCCATTGGGAATGCTTTGGTTTAGTTTAGCCTTAATCATGTCACTGGGACCATTGCAACATCCTACAGTCTAATTCACCTCCAATGTATTCCCCATGCTGCTAACAGAGTGATCTTTGTTAAGCTCAAACTGTGCATGACCTTTGTAAAGCTCTAACTTTGCATAGTCTCCCCTTACTCAAACATGTACTGCAATTTCTCATTATCAAAGCCATAAAAAATTTAGCCTGGCCTTCAAAGACTTCCACCAAGCACCTCATTGATTCTTCATCCTCTCCATATCTAAATCTATAACCAAGTTGTATTGATTTTACCTATTAACTATCTCTAGAATCTGCCCACTTGTCTATCACTGCCATTATCCTACTACAACCCATCATTAATTCTCTCTTGGGCTACTGAAAAGACATAGTAACTGATCACCCTGAGTCTTCCAAGTAATTCTTCACATAGGTGCTGAAGGGATCTTTTCATTTTGTTTTGTTTTGAGACAGTCTGGCTCTGTTGCCCAGGCTGGAATGCAATAGTGCAATCTTGGCTCACTGCAACCTCCACCTCCCGGGATCAAGGGATTCTCCTGCCTCAGCCTCCCAAGGAGCTGGGATTACAGGCATGTGCCACCATACCCCATTAATT
CACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTACATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTTATCTTCTCAACCCCTCTCTGTTCCCATTGGGAATGCTTTGGTTTAGTTTAGCCTTAATCATGTCACTGGGACCATTGCAACATCCTACAGTCTAATTCACCTCCAATGTATTCCCCATGCTGCTAACAGAGTGATCTTTGTTAAGCTCAAACTGTGCATGACCTTTGTAAAGCTCTAACTTTGCATAGTCTCCCCTTACTCAAACATGTACTGCAATTTCTCATTATCAAAGCCATAAAAAATTTAGCCTGGCCTTCAAAGACTTCCACCAAGCACCTCATTGATTCTTCATCCTCTCCATATCTAAATCTATAACCAAGTTGTATTGATTTTACCTATTAACTATCTCTAGAATCTGCCCACTTGTCTATCACTGCCATTATCCTACTACAACCCATCATTAATTCTCTCTTGGGCTACTGAAAAGACATAGTAACTGATCACCCTGAGTCTTCCAAGTAATTCTTCACATAGGTGCTGAAGGGATCTTTTCATTTTGTTTTGTTTTGAGACAGTCTGGCTCTGTTGCCCAGGCTGGAATGCAATAGTGCAATCTTGGCTCACTGCAACCTCCACCTCCCGGGATCAAGGGATTCTCCTGCCTCAGCCTCCCAAGGAGCTGGGATTACAGGCATGTGCCACCATACCCCATTAATTN
pathogenic
7,630
Does the variant on chromosome 1 at location 43340501 affecting gene MPL (MPL proto-oncogene, thrombopoietin receptor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
pathogenic; ['Congenital_amegakaryocytic_thrombocytopenia', 'Congenital_amegakaryocytic_thrombocytopenia_1', 'Essential_thrombocythemia', 'Primary_myelofibrosis', 'Thrombocythemia_2']
TAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTTATCTTCTCAACCCCTCTCTGTTCCCATTGGGAATGCTTTGGTTTAGTTTAGCCTTAATCATGTCACTGGGACCATTGCAACATCCTACAGTCTAATTCACCTCCAATGTATTCCCCATGCTGCTAACAGAGTGATCTTTGTTAAGCTCAAACTGTGCATGACCTTTGTAAAGCTCTAACTTTGCATAGTCTCCCCTTACTCAAACATGTACTGCAATTTCTCATTATCAAAGCCATAAAAAATTTAGCCTGGCCTTCAAAGACTTCCACCAAGCACCTCATTGATTCTTCATCCTCTCCATATCTAAATCTATAACCAAGTTGTATTGATTTTACCTATTAACTATCTCTAGAATCTGCCCACTTGTCTATCACTGCCATTATCCTACTACAACCCATCATTAATTCTCTCTTGGGCTACTGAAAAGACATAGTAACTGATCACCCTGAGTCTTCCAAGTAATTCTTCACATAGGTGCTGAAGGGATCTTTTCATTTTGTTTTGTTTTGAGACAGTCTGGCTCTGTTGCCCAGGCTGGAATGCAATAGTGCAATCTTGGCTCACTGCAACCTCCACCTCCCGGGATCAAGGGATTCTCCTGCCTCAGCCTCCCAAGGAGCTGGGATTACAGGCATGTGCCACCATACCCCATTAATTATTTTTGTATTTAGTAGAGAGGGGGCTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTAGCCTGAAGGGACCTTTTAAAAGTGCAAAAATGAATGTAACACTCCCTGCTTAAAAATCTTCAATAGCTTCCCACTAGTCTTAGGATAAAGAAAAAAACCTCTACCATGGACTTGAAAAGTTCTGAGACTCAGCCCCTACGTACTTCTTCAGCTTCATCTTGTGCTATGCTGCCCTTTGATCCCCATGCTCCAGCACAGGGCTTCTGTGGTCCCCTCATATCTGGCATATTCCCTTCTGCTTCTAGGTCTTTACACTGCTGTTTACCCAGCCCTACTGCCTTTACTTAACTTCTACTTATCCTCCAAATCTCAACTCAAGCGTCACTTTCTTAGGGACCCTCCCCTGGCCTTCTTTATTAAGTCCAATAGCACTAATATACATTCTTGTTGTACCATGTACCGCTTCTTCTTCTTCTTTTTTTTTTTCTTTTTTTTTTCTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGGGCAGTGGTGCCATCTCGGCTCACCGCAAGCCCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTAAGTGTTAGCCAGGATAGTCTCGATCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCATGCCTGGCCGTACCTCTCCTTCTTAAGTACTTATCATAGTCATACTTTCATATTTATAGTTTATATGATTATTTGGTTGATAATAAAAATCTGGCCAGGCCCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACTAAGGTGAGAAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGACAACATAGTGAGACTTCGTCTCTACAAAATTTCTTTAATTAGCCAGGCATGGTGGCACCTGTATTCCTAGCTACTTGGGAGGCTAAGGTGGGAGGATGGCATGAGCCTAGGAGTTTGAGGTTACAGTGAGCTATGATTGCACCACTGCACTCCAGCCTGGGCAACAGATCAAGACTTTG
TAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTTATCTTCTCAACCCCTCTCTGTTCCCATTGGGAATGCTTTGGTTTAGTTTAGCCTTAATCATGTCACTGGGACCATTGCAACATCCTACAGTCTAATTCACCTCCAATGTATTCCCCATGCTGCTAACAGAGTGATCTTTGTTAAGCTCAAACTGTGCATGACCTTTGTAAAGCTCTAACTTTGCATAGTCTCCCCTTACTCAAACATGTACTGCAATTTCTCATTATCAAAGCCATAAAAAATTTAGCCTGGCCTTCAAAGACTTCCACCAAGCACCTCATTGATTCTTCATCCTCTCCATATCTAAATCTATAACCAAGTTGTATTGATTTTACCTATTAACTATCTCTAGAATCTGCCCACTTGTCTATCACTGCCATTATCCTACTACAACCCATCATTAATTCTCTCTTGGGCTACTGAAAAGACATAGTAACTGATCACCCTGAGTCTTCCAAGTAATTCTTCACATAGGTGCTGAAGGGATCTTTTCATTTTGTTTTGTTTTGAGACAGTCTGGCTCTGTTGCCCAGGCTGGAATGCAATAGTGCAATCTTGGCTCACTGCAACCTCCACCTCCCGGGATCAAGGGATTCTCCTGCCTCAGCCTCCCAAGGAGCTGGGATTACAGGCATGTGCCACCATACCCCATTAATTATTTTTGTATTTAGTAGAGAGGGGGCTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTAGCCTGAAGGGACCTTTTAAAAGTGCAAAAATGAATGTAACACTCCCTGCTTAAAAATCTTCAATAGCTTCCCACTAGTCTTAGGATAAAGAAAAAAACCTCTACCATGGACTTGAAAAGTTCTGAGACTCAGCCCCTACGTACTTCTTCAGCTTCATCTTGTGCTATGCTGCCCTTTGATCCCCATGCTCCAGCACAGGGCTTCTGTGGTCCCCTCATATCTGGCATATTCCCTTCTGCTTCTAGGTCTTTACACTGCTGTTTACCCAGCCCTACTGCCTTTACTTAACTTCTACTTATCCTCCAAATCTCAACTCAAGCGTCACTTTCTTAGGGACCCTCCCCTGGCCTTCTTTATTAAGTCCAATAGCACTAATATACATTCTTGTTGTACCATGTACCGCTTCTTCTTCTTCTTTTTTTTTTTCTTTTTTTTTTCTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGGGCAGTGGTGCCATCTCGGCTCACCGCAAGCCCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTAAGTGTTAGCCAGGATAGTCTCGATCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACCATGCCTGGCCGTACCTCTCCTTCTTAAGTACTTATCATAGTCATACTTTCATATTTATAGTTTATATGATTATTTGGTTGATAATAAAAATCTGGCCAGGCCCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACTAAGGTGAGAAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTAGACAACATAGTGAGACTTCGTCTCTACAAAATTTCTTTAATTAGCCAGGCATGGTGGCACCTGTATTCCTAGCTACTTGGGAGGCTAAGGTGGGAGGATGGCATGAGCCTAGGAGTTTGAGGTTACAGTGAGCTATGATTGCACCACTGCACTCCAGCCTGGGCAACAGATCAAGACTTTGN
pathogenic
7,642
Regarding the variant found on chromosome 1 at position 43346605 in gene MPL (MPL proto-oncogene, thrombopoietin receptor): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Congenital_amegakaryocytic_thrombocytopenia', 'Essential_thrombocythemia']
CACATCACAGAAAAATATCATGTTTGTTTTTCTGTCTTTCCCACTGAAATTAGAGCTCTTTGAACCTTATTCCTCTATGCACTCATAGGGCCTGGCACAGTACCAATTGGCACATAGTATCAATTATTTGTTGATTAAATGGGTAAACATACCCATTTTAGTGACGGTGAGCCACTTAGGGGTTATAATCAAGAGGGAGACATGATTCAATTGTTCAATAAAGAATTATTGAGAGTGACTTTTTGCAAGGTACTGGGGATAAATAGTGCAACAAATAAAATGGAAAAGGGGCCAGGCTCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACGCCATCTCTACTAAAAATACAGAAATTAGTCAGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGGACCCAAGAGGCAGAGGCTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTGTCTCAAAACATTTTTAAAAATAAATAAAGTGGAAAGGGTTCCAGCATTGTTGGGGCTTACATTAGTAGAGGGGAGGGGAAAAGGAGGGGGAGAAAAGTAAGTAAAGAAATAAAGGAACAAAGTTATAATAGAGACTAAAGGGGGGCGTGTGGTGGGTGGGGGGTGGGTGTTGCTAATTTAGACTGAGTGGCCAGGAAAAGCCTCACCAGGGAGGTGACAGATAAGCCGAGATCTAAATGGCAAGAAGGAATGAGTCACATGAAGACCTACAGTCAGAGCAATCCAGGGCAAAGGCAAAGTGCAAAGATAGCACATTTGGCATATCTATGGCACAGAAAGAAGGCCTGTGCGGATGAAGGGTGATAAACTGGCATGAGAATCATAAGAGATGAGAATGGCAAGGCAAGGAGAAACCAAATCACAGAGTCCTGTAGGCCTGGTAAGGGGTTTGGGTTTTATTCCAAGTGGGATGAAGAGCCACTGAAGGATTTTAAGCAGTAAACAATGACAATTTGACTTACATTTTTAAAAGATATGTTTCTCTGTGAATAAATAAATAAGAGTAGAAGCAGAATCACCAGTCAGAAATTTGCCTTAATCCAAGCAAGGAATGATAGTGGCTTCATCTAACATAGCAGTGGTAAAGATCAAAATCAATAGTTTGTGACATTATATTCTGGACATTATCACATCAACATTTTTGGAAACAAATTCTGGTAGCTGTGTGGAGAACAACTTGAAGGTAGTGGCAAAAACAGAAGCAGAAAAGCCAGTTAGGAGACTATTGTCATAATCTAATAGCAAAATAACACATAGGGGAGAGTAGGAGGAATGACGTATGAGAACACGTTAAAAATAGAGGATATTTTTCTCCAGAAAGATGAGGGTTCTTTAATCTTTGAAACAATCCTGTGAGGTTGGTATCATTAACCCATTTTACAAATAGAAGGAAACTGGAGCAGAGATAAACCAAGTAATTTGCCCAAAGTTACACAAAGGTAAGCCAAGACCTCAACTCTTGGTGAAAACCCATGCTGTTTTCACATATCATGCCAGGTCTTTCCTCAAAGGGAAGAGGCCAGACAACAAAGCTGACTTCAGAAAACATCATGGCAAAATAGCAAAAACAAACGAACAAATGAACAAAGGAAAAAACAAAAAGAAAACATCATGGCATAAAGACAGAGGGAAAGCTCTGGAGGCCCCTGGAAGGAAGGAGTTAAATGATAATCCCTGCAGGCCATCGTTCTTGTAGGATGGGAAGCCTTGGGATTAGTCTCTGGGGCAGGCCTGATTCAATGACTCTGTGGGGCTGGGTCTTAGGTACCCCATCTGGGAGAACTGCGAAGAGGAAGAGAAAACAAATCCAGGACTACAGACCCCACAGTTCTCTCGCTGCCACTTCAAGTCACGAAATGACAGCATTATTCACATCCTTGTGGAGGTGACCACAGCCCCGGGTACTGTTCACAGCTACCTGGGCTCCCCTTTCTGGATCCACCAGGCTGGTAAGAACTTTCTTCCTCATTCTTCCCACATAGTTCCCACCCCCACTGAATCTGACCCTGTGCCCAGGATCCCCAACTCTGACCCTTCTGACCGATGGCTCTGGTGGCACAATGCCTTGTGCACAGAAGGACTTAAGCTGCTCCCTGCTGACATCCCTGTAGTGCGCCTCCCCACCCCAAACTTGCACTGGAGGGAGATCTCCAGTGGGCATCTGGAATTGGAGTGGCAGCACCCATCGTCCTGGGCAGCCCAAGAGACCTGTTATCAACTCCGATACACAGGAGAAGGCCATCAGGACTGGAAGGTATGGTCAAGCAACAAATGCCCACAGACCTCACTACGCAGGGGATCCCTGGGGTTGGCCATGCCTGTTAGCAGGAGTGAAAGTGTCTATGTATCCAGTCTCTGCTAGTATATCTATGTTTATCAGATTCAACTGGTATCTTAGTCTCTCTTGGGCATCTGATATTTCTGGCTACTCCTACTTAACATTTCTCTTCCCTTTGTCTTTGGGATATCAGTCTTCCCCGATTTTCCTCCTACCTCTCTGACTGAACTTTCTCACTCTCCTCTCCTGGCTCCTCCTTTCCAGCCTTCCACAAAATGCTGTGCTTCCTAGAGTCTCATCCTAGGCTCTTTTCTCCTCTGATAAAATAAATATGTTCTCCCCAGGTGAGTGCTTTAACTCCATGGTTTCAATGTCCATACATTAACAATCGCAATTTTACCATTCTAACTCCCATATGGAAAGGAATTTACAAACCACAGGCAAATTACCAAAATGTTTGAAGTCTGTTTCCTCATTGGTGAAATGAGGATGAAGCTATCTACCTTATGGAGTTATAGTAAAGATTAAATACTATATCTAAATACCTAGCATACTGCCTGGCATAAGGAAGGTGCTCAATATACATTACTTAAATATTAGTTTGTCTACTTTTATTCTCATTTGCCACACATATATACAACTATGTACAACATCTTATGGTTCTACCAAAACTTCCTCCCCCTGGACATTTCAGACTCAGTCTATCCAGAATGGAACTCCTCTTCCTCCTGAAGCTTTACTTTTTTATTGTGATAAAACTTACATACAACAAAGTGTACAAATTTTACATATATAGTCTGTACTTGTGTATACATCCACATAACCATAACCAGGATCAAGATATAAATTATTTCCAGCACCTCAGAAGCTCCCAATGCTCCGACACATCCCCCGCCACCAAAGGTAATCACCATCCTGACATTACCATTGATTCATTTGGACTGTTGTTGAACTCTATAAAATGGAACCCTAAAGTATATCTTCCTCAAACTTACTTCTCTTCTGTGTCCTGTCTCTGACAATGGCACCGCTACTTACCCAGTACCCAAGCCTAGAAGCACCCTTGACTCTTCTTGCTCTTCCCTTATCCCTTCCCCTTACTCATCAACTAAGTTGATGGCAATAACGTACTAATAGTCCTCAAATTCCTACCAGGATTGCCTTAGACTCATCTGTGACCATCCAGCCGTGTCATCCATGCTTTTAGCACACTAAACTACTCTGTGGCACAAAACCAAGCATTAAATGCTTCTCTGGACTTCCGTGGTGCCTTGCACTAATTAATTGTTGTGATTATTTACCTGTTTGGATGTCTTTCTCATTAGATATGTAAGAGACGGTGTTTTATTGCTTTCTCCCCAGTGCCTAACCCAATGTTTGGAGTATCACACAGTTCATAAATGTTTGCTGCCTTCCTGCTTGTACACATGATGCTTGTACCCCAGCGCCTAACGCAAATCTGGCATCCTCTGCAGCATGAGTATTATTTGTGGCATGGTCTGTGTGGCTCTGAATATATCTGTTTCTGGGGGTGTCCATCGCCCGACCTGGAGTTGTGAGAACACCCGGTAGGGTGTGCGTGTACCGGGATCCCTGCCGAGGGTGTACCTGGGTGTTGGTGTTAGGATACGTAGCTCTCTGAGGTGAGGTCTGTGTCTCAGGAGGTGGGCCTGGCACGTTTCTCTCGGGCAGAG
CACATCACAGAAAAATATCATGTTTGTTTTTCTGTCTTTCCCACTGAAATTAGAGCTCTTTGAACCTTATTCCTCTATGCACTCATAGGGCCTGGCACAGTACCAATTGGCACATAGTATCAATTATTTGTTGATTAAATGGGTAAACATACCCATTTTAGTGACGGTGAGCCACTTAGGGGTTATAATCAAGAGGGAGACATGATTCAATTGTTCAATAAAGAATTATTGAGAGTGACTTTTTGCAAGGTACTGGGGATAAATAGTGCAACAAATAAAATGGAAAAGGGGCCAGGCTCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACGCCATCTCTACTAAAAATACAGAAATTAGTCAGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGGACCCAAGAGGCAGAGGCTGCAGTGAGCTGAGATCGTACCATTGCACTCCAGCCTGGGCAACAAAGCAAGACTGTCTCAAAACATTTTTAAAAATAAATAAAGTGGAAAGGGTTCCAGCATTGTTGGGGCTTACATTAGTAGAGGGGAGGGGAAAAGGAGGGGGAGAAAAGTAAGTAAAGAAATAAAGGAACAAAGTTATAATAGAGACTAAAGGGGGGCGTGTGGTGGGTGGGGGGTGGGTGTTGCTAATTTAGACTGAGTGGCCAGGAAAAGCCTCACCAGGGAGGTGACAGATAAGCCGAGATCTAAATGGCAAGAAGGAATGAGTCACATGAAGACCTACAGTCAGAGCAATCCAGGGCAAAGGCAAAGTGCAAAGATAGCACATTTGGCATATCTATGGCACAGAAAGAAGGCCTGTGCGGATGAAGGGTGATAAACTGGCATGAGAATCATAAGAGATGAGAATGGCAAGGCAAGGAGAAACCAAATCACAGAGTCCTGTAGGCCTGGTAAGGGGTTTGGGTTTTATTCCAAGTGGGATGAAGAGCCACTGAAGGATTTTAAGCAGTAAACAATGACAATTTGACTTACATTTTTAAAAGATATGTTTCTCTGTGAATAAATAAATAAGAGTAGAAGCAGAATCACCAGTCAGAAATTTGCCTTAATCCAAGCAAGGAATGATAGTGGCTTCATCTAACATAGCAGTGGTAAAGATCAAAATCAATAGTTTGTGACATTATATTCTGGACATTATCACATCAACATTTTTGGAAACAAATTCTGGTAGCTGTGTGGAGAACAACTTGAAGGTAGTGGCAAAAACAGAAGCAGAAAAGCCAGTTAGGAGACTATTGTCATAATCTAATAGCAAAATAACACATAGGGGAGAGTAGGAGGAATGACGTATGAGAACACGTTAAAAATAGAGGATATTTTTCTCCAGAAAGATGAGGGTTCTTTAATCTTTGAAACAATCCTGTGAGGTTGGTATCATTAACCCATTTTACAAATAGAAGGAAACTGGAGCAGAGATAAACCAAGTAATTTGCCCAAAGTTACACAAAGGTAAGCCAAGACCTCAACTCTTGGTGAAAACCCATGCTGTTTTCACATATCATGCCAGGTCTTTCCTCAAAGGGAAGAGGCCAGACAACAAAGCTGACTTCAGAAAACATCATGGCAAAATAGCAAAAACAAACGAACAAATGAACAAAGGAAAAAACAAAAAGAAAACATCATGGCATAAAGACAGAGGGAAAGCTCTGGAGGCCCCTGGAAGGAAGGAGTTAAATGATAATCCCTGCAGGCCATCGTTCTTGTAGGATGGGAAGCCTTGGGATTAGTCTCTGGGGCAGGCCTGATTCAATGACTCTGTGGGGCTGGGTCTTAGGTACCCCATCTGGGAGAACTGCGAAGAGGAAGAGAAAACAAATCCAGGACTACAGACCCCACAGTTCTCTCGCTGCCACTTCAAGTCACGAAATGACAGCATTATTCACATCCTTGTGGAGGTGACCACAGCCCCGGGTACTGTTCACAGCTACCTGGGCTCCCTTTCTGGATCCACCAGGCTGGTAAGAACTTTCTTCCTCATTCTTCCCACATAGTTCCCACCCCCACTGAATCTGACCCTGTGCCCAGGATCCCCAACTCTGACCCTTCTGACCGATGGCTCTGGTGGCACAATGCCTTGTGCACAGAAGGACTTAAGCTGCTCCCTGCTGACATCCCTGTAGTGCGCCTCCCCACCCCAAACTTGCACTGGAGGGAGATCTCCAGTGGGCATCTGGAATTGGAGTGGCAGCACCCATCGTCCTGGGCAGCCCAAGAGACCTGTTATCAACTCCGATACACAGGAGAAGGCCATCAGGACTGGAAGGTATGGTCAAGCAACAAATGCCCACAGACCTCACTACGCAGGGGATCCCTGGGGTTGGCCATGCCTGTTAGCAGGAGTGAAAGTGTCTATGTATCCAGTCTCTGCTAGTATATCTATGTTTATCAGATTCAACTGGTATCTTAGTCTCTCTTGGGCATCTGATATTTCTGGCTACTCCTACTTAACATTTCTCTTCCCTTTGTCTTTGGGATATCAGTCTTCCCCGATTTTCCTCCTACCTCTCTGACTGAACTTTCTCACTCTCCTCTCCTGGCTCCTCCTTTCCAGCCTTCCACAAAATGCTGTGCTTCCTAGAGTCTCATCCTAGGCTCTTTTCTCCTCTGATAAAATAAATATGTTCTCCCCAGGTGAGTGCTTTAACTCCATGGTTTCAATGTCCATACATTAACAATCGCAATTTTACCATTCTAACTCCCATATGGAAAGGAATTTACAAACCACAGGCAAATTACCAAAATGTTTGAAGTCTGTTTCCTCATTGGTGAAATGAGGATGAAGCTATCTACCTTATGGAGTTATAGTAAAGATTAAATACTATATCTAAATACCTAGCATACTGCCTGGCATAAGGAAGGTGCTCAATATACATTACTTAAATATTAGTTTGTCTACTTTTATTCTCATTTGCCACACATATATACAACTATGTACAACATCTTATGGTTCTACCAAAACTTCCTCCCCCTGGACATTTCAGACTCAGTCTATCCAGAATGGAACTCCTCTTCCTCCTGAAGCTTTACTTTTTTATTGTGATAAAACTTACATACAACAAAGTGTACAAATTTTACATATATAGTCTGTACTTGTGTATACATCCACATAACCATAACCAGGATCAAGATATAAATTATTTCCAGCACCTCAGAAGCTCCCAATGCTCCGACACATCCCCCGCCACCAAAGGTAATCACCATCCTGACATTACCATTGATTCATTTGGACTGTTGTTGAACTCTATAAAATGGAACCCTAAAGTATATCTTCCTCAAACTTACTTCTCTTCTGTGTCCTGTCTCTGACAATGGCACCGCTACTTACCCAGTACCCAAGCCTAGAAGCACCCTTGACTCTTCTTGCTCTTCCCTTATCCCTTCCCCTTACTCATCAACTAAGTTGATGGCAATAACGTACTAATAGTCCTCAAATTCCTACCAGGATTGCCTTAGACTCATCTGTGACCATCCAGCCGTGTCATCCATGCTTTTAGCACACTAAACTACTCTGTGGCACAAAACCAAGCATTAAATGCTTCTCTGGACTTCCGTGGTGCCTTGCACTAATTAATTGTTGTGATTATTTACCTGTTTGGATGTCTTTCTCATTAGATATGTAAGAGACGGTGTTTTATTGCTTTCTCCCCAGTGCCTAACCCAATGTTTGGAGTATCACACAGTTCATAAATGTTTGCTGCCTTCCTGCTTGTACACATGATGCTTGTACCCCAGCGCCTAACGCAAATCTGGCATCCTCTGCAGCATGAGTATTATTTGTGGCATGGTCTGTGTGGCTCTGAATATATCTGTTTCTGGGGGTGTCCATCGCCCGACCTGGAGTTGTGAGAACACCCGGTAGGGTGTGCGTGTACCGGGATCCCTGCCGAGGGTGTACCTGGGTGTTGGTGTTAGGATACGTAGCTCTCTGAGGTGAGGTCTGTGTCTCAGGAGGTGGGCCTGGCACGTTTCTCTCGGGCAGAGN
pathogenic
7,649
A genetic variant at chromosome 1, position 43348848, affecting gene MPL (MPL proto-oncogene, thrombopoietin receptor)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
pathogenic; ['Congenital_amegakaryocytic_thrombocytopenia', 'Essential_thrombocythemia', 'MPL-related_disorder']
CCCACCCCAAACTTGCACTGGAGGGAGATCTCCAGTGGGCATCTGGAATTGGAGTGGCAGCACCCATCGTCCTGGGCAGCCCAAGAGACCTGTTATCAACTCCGATACACAGGAGAAGGCCATCAGGACTGGAAGGTATGGTCAAGCAACAAATGCCCACAGACCTCACTACGCAGGGGATCCCTGGGGTTGGCCATGCCTGTTAGCAGGAGTGAAAGTGTCTATGTATCCAGTCTCTGCTAGTATATCTATGTTTATCAGATTCAACTGGTATCTTAGTCTCTCTTGGGCATCTGATATTTCTGGCTACTCCTACTTAACATTTCTCTTCCCTTTGTCTTTGGGATATCAGTCTTCCCCGATTTTCCTCCTACCTCTCTGACTGAACTTTCTCACTCTCCTCTCCTGGCTCCTCCTTTCCAGCCTTCCACAAAATGCTGTGCTTCCTAGAGTCTCATCCTAGGCTCTTTTCTCCTCTGATAAAATAAATATGTTCTCCCCAGGTGAGTGCTTTAACTCCATGGTTTCAATGTCCATACATTAACAATCGCAATTTTACCATTCTAACTCCCATATGGAAAGGAATTTACAAACCACAGGCAAATTACCAAAATGTTTGAAGTCTGTTTCCTCATTGGTGAAATGAGGATGAAGCTATCTACCTTATGGAGTTATAGTAAAGATTAAATACTATATCTAAATACCTAGCATACTGCCTGGCATAAGGAAGGTGCTCAATATACATTACTTAAATATTAGTTTGTCTACTTTTATTCTCATTTGCCACACATATATACAACTATGTACAACATCTTATGGTTCTACCAAAACTTCCTCCCCCTGGACATTTCAGACTCAGTCTATCCAGAATGGAACTCCTCTTCCTCCTGAAGCTTTACTTTTTTATTGTGATAAAACTTACATACAACAAAGTGTACAAATTTTACATATATAGTCTGTACTTGTGTATACATCCACATAACCATAACCAGGATCAAGATATAAATTATTTCCAGCACCTCAGAAGCTCCCAATGCTCCGACACATCCCCCGCCACCAAAGGTAATCACCATCCTGACATTACCATTGATTCATTTGGACTGTTGTTGAACTCTATAAAATGGAACCCTAAAGTATATCTTCCTCAAACTTACTTCTCTTCTGTGTCCTGTCTCTGACAATGGCACCGCTACTTACCCAGTACCCAAGCCTAGAAGCACCCTTGACTCTTCTTGCTCTTCCCTTATCCCTTCCCCTTACTCATCAACTAAGTTGATGGCAATAACGTACTAATAGTCCTCAAATTCCTACCAGGATTGCCTTAGACTCATCTGTGACCATCCAGCCGTGTCATCCATGCTTTTAGCACACTAAACTACTCTGTGGCACAAAACCAAGCATTAAATGCTTCTCTGGACTTCCGTGGTGCCTTGCACTAATTAATTGTTGTGATTATTTACCTGTTTGGATGTCTTTCTCATTAGATATGTAAGAGACGGTGTTTTATTGCTTTCTCCCCAGTGCCTAACCCAATGTTTGGAGTATCACACAGTTCATAAATGTTTGCTGCCTTCCTGCTTGTACACATGATGCTTGTACCCCAGCGCCTAACGCAAATCTGGCATCCTCTGCAGCATGAGTATTATTTGTGGCATGGTCTGTGTGGCTCTGAATATATCTGTTTCTGGGGGTGTCCATCGCCCGACCTGGAGTTGTGAGAACACCCGGTAGGGTGTGCGTGTACCGGGATCCCTGCCGAGGGTGTACCTGGGTGTTGGTGTTAGGATACGTAGCTCTCTGAGGTGAGGTCTGTGTCTCAGGAGGTGGGCCTGGCACGTTTCTCTCGGGCAGAGCGTGATCCCGTTAGGGAGAGGCTCTCGGTTAGGGCGCTCTATCCTGTTGCTGGGAAGCGTGTTTTCTGCCGGTGGGGCTCTTTGTGGGAATCTCCGACCGCCTGGGGATTCGGAGCTGCAGGATTTGGGTCAAACAGACGCTGGGCTATCGAAGCCCCGACGCCGGGCCACCGCACGCTTCTTTGCTCAGGTGCTGGAGCCGCCTCTCGGGGCCCGAGGAGGGACCCTGGAGCTGCGCCCGCGATCTCGCTACCGTTTACAGCTGCGCGCCAGGCTCAACGGCCCCACCTACCAAGGTCCCTGGAGCTCGTGGTCGGACCCAACTAGGGTGGAGACCGCCACCGAGACCGGTGAGGCAAGCCCCGGCCGCACCAAAGCCGCACAGCGCCTGCGCCAGGGACTGGGCGCCGGGTGCGAGTGGGGCGGGGCTCGGAGAGGGGCGAGGCGCGGGGCGCGGAGAGGGGCGGGGCCCTGACCTTGCGGGCCGACGGCTGCGCAGGTGCCCGCAGTGCCCAGGGGCGGCGAGGGGCGGGGCCAGAGTAGGGGCTGGCTGGATGAGGGCGGGGCTCCGGCCCGGGTGGGCCGAAGTCTGACCCTTTTTGTCTCCTAGCCTGGATCTCCTTGGTGACCGCTCTGCATCTAGTGCTGGGCCTCAGCGCCGTCCTGGGCCTGCTGCTGCTGAGGTGGCAGTTTCCTGCACACTACAGGTACCGCCCCCGCCAGGCAGGAGACTGGCGGTGGACCAGGTGGAGCCGAAGGCCTGTAAACAGGCATTCTTGGTTCGCTCTGTGACCCCAGATCTCCGTCCACCGCCCGTGCGCACCTACGGCTTCGCCACTTCCTGCACGTCACCTCTGGGACTCGCCGCGGCTCCTTACACTCTAACACGCCCACTATACCGCCCACCTCGAACAGCCCCGCCTCCTGCTGCTCACCTCGGCGACTAGGCCACCGTCCACCCTTCAGCCAAACTGCCCACTCCACCCCCATCCAATCTGCCGTCAGGTCCCACCTCCTAAACCTAGTCCAAACAATGGCCCCCTTTCTCTAGCCCTACAGACACGACCTGACTCACTGAAACAGAACCTCTTGCCCCTCCGATCTAGCCTCACACAGCCACCAGAATAATCTTTCTAAAATGCGCACATGAACCTATCAATTCCCTCCTTAAATCCTTTCAATAGCTCCCAGGATATAGTCCAGGCTCCCTATGATGACAAGCGAGGCTCTGCAAAATCGGCCCCTGCCAGCAAGCACTTCAGCCTGTTCTACCCTGTGCATCAGCCTTTCCAAACTGGTTTTCTCCACAAGTCAGGTTTTACTTCTCAGTGCCTTTGCACATAACGTCCGCTCTGCCTGAAATAGCCTCCCTGTCTCACTAAACCCATTCATCTGTAAATAACTTTCTTCACCAACTCTTAAGAAACCTTTCCTGACCCTCCCCCTTTTGGCCGCTGCTCTGTGCTCCAATACAGTACCAGTAGTGTTTTACTGTGTTTATTTCTTTATATATCTTCCCTATTATACCTTACTTGGTCATCTTTAAATCCTTAGCACAGTGCCTGCCAAAAAGCAGGCCCTTAAATAAATGTTATTAATGAGTGACTCATTTATGTGGGAAGACGAAGGCTGAGGAGAAATGCCATTGGAGGCTATAAACATGAAGGGTAGAATGCATCCCACCTCCATCCTTCATCTGCTGCTTCTTTAAGACTTAGCTCAGAAGTCATCTCCTCCAGATGGTGTCTTCTGATGGTCCTGGGCTGGTTCAGGTGCCACTCTCATGGGCTACCATCTCCCTCTGAACATACCTCTCTTTGAACTTTTAATCTGCCCATACGTATGAGCAGACTGAAAGGTAGCCTCCATGCAGGTAGCCAGATCCAACAAAAAAGTTGGAGAAGTAGGAGGAGGTGGTCTGCTGAGCCAGGCATACTCAGTTTCTTTTCCCCAATTTACCAGGTAAGTCACACCTTCTCCCCTGGAGAGATATGAGTGAGGTCACTGAAGCGGCCTGAAATGTTCTACTGACGTCCCTCCACATGGAAATATGAAGCTAAAGAATCCAGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCA
CCCACCCCAAACTTGCACTGGAGGGAGATCTCCAGTGGGCATCTGGAATTGGAGTGGCAGCACCCATCGTCCTGGGCAGCCCAAGAGACCTGTTATCAACTCCGATACACAGGAGAAGGCCATCAGGACTGGAAGGTATGGTCAAGCAACAAATGCCCACAGACCTCACTACGCAGGGGATCCCTGGGGTTGGCCATGCCTGTTAGCAGGAGTGAAAGTGTCTATGTATCCAGTCTCTGCTAGTATATCTATGTTTATCAGATTCAACTGGTATCTTAGTCTCTCTTGGGCATCTGATATTTCTGGCTACTCCTACTTAACATTTCTCTTCCCTTTGTCTTTGGGATATCAGTCTTCCCCGATTTTCCTCCTACCTCTCTGACTGAACTTTCTCACTCTCCTCTCCTGGCTCCTCCTTTCCAGCCTTCCACAAAATGCTGTGCTTCCTAGAGTCTCATCCTAGGCTCTTTTCTCCTCTGATAAAATAAATATGTTCTCCCCAGGTGAGTGCTTTAACTCCATGGTTTCAATGTCCATACATTAACAATCGCAATTTTACCATTCTAACTCCCATATGGAAAGGAATTTACAAACCACAGGCAAATTACCAAAATGTTTGAAGTCTGTTTCCTCATTGGTGAAATGAGGATGAAGCTATCTACCTTATGGAGTTATAGTAAAGATTAAATACTATATCTAAATACCTAGCATACTGCCTGGCATAAGGAAGGTGCTCAATATACATTACTTAAATATTAGTTTGTCTACTTTTATTCTCATTTGCCACACATATATACAACTATGTACAACATCTTATGGTTCTACCAAAACTTCCTCCCCCTGGACATTTCAGACTCAGTCTATCCAGAATGGAACTCCTCTTCCTCCTGAAGCTTTACTTTTTTATTGTGATAAAACTTACATACAACAAAGTGTACAAATTTTACATATATAGTCTGTACTTGTGTATACATCCACATAACCATAACCAGGATCAAGATATAAATTATTTCCAGCACCTCAGAAGCTCCCAATGCTCCGACACATCCCCCGCCACCAAAGGTAATCACCATCCTGACATTACCATTGATTCATTTGGACTGTTGTTGAACTCTATAAAATGGAACCCTAAAGTATATCTTCCTCAAACTTACTTCTCTTCTGTGTCCTGTCTCTGACAATGGCACCGCTACTTACCCAGTACCCAAGCCTAGAAGCACCCTTGACTCTTCTTGCTCTTCCCTTATCCCTTCCCCTTACTCATCAACTAAGTTGATGGCAATAACGTACTAATAGTCCTCAAATTCCTACCAGGATTGCCTTAGACTCATCTGTGACCATCCAGCCGTGTCATCCATGCTTTTAGCACACTAAACTACTCTGTGGCACAAAACCAAGCATTAAATGCTTCTCTGGACTTCCGTGGTGCCTTGCACTAATTAATTGTTGTGATTATTTACCTGTTTGGATGTCTTTCTCATTAGATATGTAAGAGACGGTGTTTTATTGCTTTCTCCCCAGTGCCTAACCCAATGTTTGGAGTATCACACAGTTCATAAATGTTTGCTGCCTTCCTGCTTGTACACATGATGCTTGTACCCCAGCGCCTAACGCAAATCTGGCATCCTCTGCAGCATGAGTATTATTTGTGGCATGGTCTGTGTGGCTCTGAATATATCTGTTTCTGGGGGTGTCCATCGCCCGACCTGGAGTTGTGAGAACACCCGGTAGGGTGTGCGTGTACCGGGATCCCTGCCGAGGGTGTACCTGGGTGTTGGTGTTAGGATACGTAGCTCTCTGAGGTGAGGTCTGTGTCTCAGGAGGTGGGCCTGGCACGTTTCTCTCGGGCAGAGCGTGATCCCGTTAGGGAGAGGCTCTCGGTTAGGGCGCTCTATCCTGTTGCTGGGAAGCGTGTTTTCTGCCGGTGGGGCTCTTTGTGGGAATCTCCGACCGCCTGGGGATTCGGAGCTGCAGGATTTGGGTCAAACAGACGCTGGGCTATCGAAGCCCCGACGCCGGGCCACCGCACGCTTCTTTGCTCAGGTGCTGGCCTCTCGGGGCCCGAGGAGGGACCCTGGAGCTGCGCCCGCGATCTCGCTACCGTTTACAGCTGCGCGCCAGGCTCAACGGCCCCACCTACCAAGGTCCCTGGAGCTCGTGGTCGGACCCAACTAGGGTGGAGACCGCCACCGAGACCGGTGAGGCAAGCCCCGGCCGCACCAAAGCCGCACAGCGCCTGCGCCAGGGACTGGGCGCCGGGTGCGAGTGGGGCGGGGCTCGGAGAGGGGCGAGGCGCGGGGCGCGGAGAGGGGCGGGGCCCTGACCTTGCGGGCCGACGGCTGCGCAGGTGCCCGCAGTGCCCAGGGGCGGCGAGGGGCGGGGCCAGAGTAGGGGCTGGCTGGATGAGGGCGGGGCTCCGGCCCGGGTGGGCCGAAGTCTGACCCTTTTTGTCTCCTAGCCTGGATCTCCTTGGTGACCGCTCTGCATCTAGTGCTGGGCCTCAGCGCCGTCCTGGGCCTGCTGCTGCTGAGGTGGCAGTTTCCTGCACACTACAGGTACCGCCCCCGCCAGGCAGGAGACTGGCGGTGGACCAGGTGGAGCCGAAGGCCTGTAAACAGGCATTCTTGGTTCGCTCTGTGACCCCAGATCTCCGTCCACCGCCCGTGCGCACCTACGGCTTCGCCACTTCCTGCACGTCACCTCTGGGACTCGCCGCGGCTCCTTACACTCTAACACGCCCACTATACCGCCCACCTCGAACAGCCCCGCCTCCTGCTGCTCACCTCGGCGACTAGGCCACCGTCCACCCTTCAGCCAAACTGCCCACTCCACCCCCATCCAATCTGCCGTCAGGTCCCACCTCCTAAACCTAGTCCAAACAATGGCCCCCTTTCTCTAGCCCTACAGACACGACCTGACTCACTGAAACAGAACCTCTTGCCCCTCCGATCTAGCCTCACACAGCCACCAGAATAATCTTTCTAAAATGCGCACATGAACCTATCAATTCCCTCCTTAAATCCTTTCAATAGCTCCCAGGATATAGTCCAGGCTCCCTATGATGACAAGCGAGGCTCTGCAAAATCGGCCCCTGCCAGCAAGCACTTCAGCCTGTTCTACCCTGTGCATCAGCCTTTCCAAACTGGTTTTCTCCACAAGTCAGGTTTTACTTCTCAGTGCCTTTGCACATAACGTCCGCTCTGCCTGAAATAGCCTCCCTGTCTCACTAAACCCATTCATCTGTAAATAACTTTCTTCACCAACTCTTAAGAAACCTTTCCTGACCCTCCCCCTTTTGGCCGCTGCTCTGTGCTCCAATACAGTACCAGTAGTGTTTTACTGTGTTTATTTCTTTATATATCTTCCCTATTATACCTTACTTGGTCATCTTTAAATCCTTAGCACAGTGCCTGCCAAAAAGCAGGCCCTTAAATAAATGTTATTAATGAGTGACTCATTTATGTGGGAAGACGAAGGCTGAGGAGAAATGCCATTGGAGGCTATAAACATGAAGGGTAGAATGCATCCCACCTCCATCCTTCATCTGCTGCTTCTTTAAGACTTAGCTCAGAAGTCATCTCCTCCAGATGGTGTCTTCTGATGGTCCTGGGCTGGTTCAGGTGCCACTCTCATGGGCTACCATCTCCCTCTGAACATACCTCTCTTTGAACTTTTAATCTGCCCATACGTATGAGCAGACTGAAAGGTAGCCTCCATGCAGGTAGCCAGATCCAACAAAAAAGTTGGAGAAGTAGGAGGAGGTGGTCTGCTGAGCCAGGCATACTCAGTTTCTTTTCCCCAATTTACCAGGTAAGTCACACCTTCTCCCCTGGAGAGATATGAGTGAGGTCACTGAAGCGGCCTGAAATGTTCTACTGACGTCCCTCCACATGGAAATATGAAGCTAAAGAATCCAGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCANNNNN
pathogenic
7,655
Determine if the mutation at chromosome 1, position 43352302 in gene MPL (MPL proto-oncogene, thrombopoietin receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Congenital_amegakaryocytic_thrombocytopenia', 'Congenital_amegakaryocytic_thrombocytopenia_1', 'Essential_thrombocythemia', 'Primary_myelofibrosis', 'Thrombocythemia_2']
GTGACTCATTTATGTGGGAAGACGAAGGCTGAGGAGAAATGCCATTGGAGGCTATAAACATGAAGGGTAGAATGCATCCCACCTCCATCCTTCATCTGCTGCTTCTTTAAGACTTAGCTCAGAAGTCATCTCCTCCAGATGGTGTCTTCTGATGGTCCTGGGCTGGTTCAGGTGCCACTCTCATGGGCTACCATCTCCCTCTGAACATACCTCTCTTTGAACTTTTAATCTGCCCATACGTATGAGCAGACTGAAAGGTAGCCTCCATGCAGGTAGCCAGATCCAACAAAAAAGTTGGAGAAGTAGGAGGAGGTGGTCTGCTGAGCCAGGCATACTCAGTTTCTTTTCCCCAATTTACCAGGTAAGTCACACCTTCTCCCCTGGAGAGATATGAGTGAGGTCACTGAAGCGGCCTGAAATGTTCTACTGACGTCCCTCCACATGGAAATATGAAGCTAAAGAATCCAGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCCTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAG
GTGACTCATTTATGTGGGAAGACGAAGGCTGAGGAGAAATGCCATTGGAGGCTATAAACATGAAGGGTAGAATGCATCCCACCTCCATCCTTCATCTGCTGCTTCTTTAAGACTTAGCTCAGAAGTCATCTCCTCCAGATGGTGTCTTCTGATGGTCCTGGGCTGGTTCAGGTGCCACTCTCATGGGCTACCATCTCCCTCTGAACATACCTCTCTTTGAACTTTTAATCTGCCCATACGTATGAGCAGACTGAAAGGTAGCCTCCATGCAGGTAGCCAGATCCAACAAAAAAGTTGGAGAAGTAGGAGGAGGTGGTCTGCTGAGCCAGGCATACTCAGTTTCTTTTCCCCAATTTACCAGGTAAGTCACACCTTCTCCCCTGGAGAGATATGAGTGAGGTCACTGAAGCGGCCTGAAATGTTCTACTGACGTCCCTCCACATGGAAATATGAAGCTAAAGAATCCAGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCCTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGN
pathogenic
7,664
Is the chromosome 1, position 43352534 variant in MPL (MPL proto-oncogene, thrombopoietin receptor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['Congenital_amegakaryocytic_thrombocytopenia', 'Essential_thrombocythemia']
CCCATACGTATGAGCAGACTGAAAGGTAGCCTCCATGCAGGTAGCCAGATCCAACAAAAAAGTTGGAGAAGTAGGAGGAGGTGGTCTGCTGAGCCAGGCATACTCAGTTTCTTTTCCCCAATTTACCAGGTAAGTCACACCTTCTCCCCTGGAGAGATATGAGTGAGGTCACTGAAGCGGCCTGAAATGTTCTACTGACGTCCCTCCACATGGAAATATGAAGCTAAAGAATCCAGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCCTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTGTGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGCTTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAATCTTTCTGGACAAGGTTACCTTAATCCCATGCCAGCTGTCCTCATCCTCTAAACCGTTCATAGGCAGCAGTAAATGTGCTCAGACAGTTCTGATTATGGACTCTCCTAACACATT
CCCATACGTATGAGCAGACTGAAAGGTAGCCTCCATGCAGGTAGCCAGATCCAACAAAAAAGTTGGAGAAGTAGGAGGAGGTGGTCTGCTGAGCCAGGCATACTCAGTTTCTTTTCCCCAATTTACCAGGTAAGTCACACCTTCTCCCCTGGAGAGATATGAGTGAGGTCACTGAAGCGGCCTGAAATGTTCTACTGACGTCCCTCCACATGGAAATATGAAGCTAAAGAATCCAGGTTCTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGAGAGGCGGAGCTTGCAGTGAGCCAAGACCGCGCCACTGCACTCCAGCCTGGGCCACAGAGGGAGACTCCATCTCAAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAACAAAAAAATGGAGGCCCCTCCAATACATCTTAATCCATATTCTTCCCAGATAGACTACCCTCTCCAGTAACTTACTAATAAGCTCCACTGATTTTCTTCATTCATTCATTCAGCTAATTTACTGAGCACCTACTATGGGTCAGACACTATTCTACACCCTAGAAATACAGGAGTGAATAAATAGACAAACTCTCTTTTCTCGGGGACCATATGTTCTAGTGGGGTGAGACAGACAAAAAGAAATATACATAACAATGTAATAAATGTACAACAAGTCAAATACTATAAGGAAAAATGAAGTACAGCAGGAGATAGCCTGTCATGGGGAAAGGAAGCAGCACTACAGTGGTCCCCTCTTATCCACAGTTTCACTTTTTGTGGTTTCAGTTACACGCAGTCAATTAAGGTCTGAAAAAAATTACATGGAAAATTCCAGAAATAAACAATTCATGTATTTTAAATTGTAAGTAGCACGATGAAATCACTTGCCATGCCGCTCTGTCCCACCCGGGATGTAAATCATCCCTTTGTCCAGCATCTCCACGCTGTATATGCTCCCTGCCCCATAGTCACTTAGCAGCCATCTTGCTTATCAGATTGACTCGTTGAGGTATTGCAGAGCTGTGTTCAAGTAACCCTCATTTTAGTTAATAATGGCCCCAAAGTACAAGAGTAGTGATGTTGGCATATTGTTCTAATTGTTCTATTTTATTAGTAGTCATTATTAATCTCTTACTGTGCCTAATTTATAAACTTTATTGTAGGTATGTACGTATAGAAAAAACATCTGCTGGGAGTCTTGAAACATATCCCCTGCAGATAAAGAGGGACTACTGTGTTTCAGGCAAGGTAGTCAGGGATGACATTTGAACAGAGGCCTACAATGAGGTGAGGGAATGAATCCAGTGTTCCAGACAGAACAAACATTGGAGTGTTTGAGGAAACTGCAGCACCCTTTGTTGAACCTGCCCACCACTGACTTCCCTCCCCTACCTGAGGTTTTCTTCTTACTCTACTCCCCTGCCCAACTTTATTGCCTTGACCATGCTCTTATATCTCCAAGCCTTACTCCCCGGCCTCACTGCTCCCCCACCCCAACTGCTGTCCTCCTCCCTGCCAATCCACTGCCATGGCTCAGTCTGCTTCTCTTCCTTCTCCCCCAGGAGACTGAGGCATGCCCTGTGGCCCTCACTTCCAGACCTGCACCGGGTCCTAGGCCAGTACCTTAGGGACACTGCAGCCCTGAGCCCGGTGAGTGTGCTTCCCTCCCCTGTGCCCACCACCAACCCTGCCTGGTACTGGATCCTTGCCCCAACAATACAACTTGTTCAAGGTCCTTGCCCTACCAGTGTGCCATCCCCAGGCACTACCCCAGCACTACCCCAGCCCTTCTCCTTCCTGTACAGTCCAGCCCCTCCTCCCACAGGATCTGCTTTAATCCAGCGCCTCTCCTCATCTCTCCCAGCCCAAGGCCACAGTCTCAAGATACCTGTGAAGAAGTGGAACCCAGCCTCCTTGAAATCCTCCCCAAGTCCTCAGAGAGGACTCCTTTGCCCCTGTGTTCCTCCCAGGCCCAGATGGACTACCGAAGATTGCAGCCTTCTTGCCTGGGGACCATGCCCCTGTCTGTGTGCCCACCCATGGCTGAGTCAGGGTCCTGCTGTACCACCCACATTGCCAACCATTCCTACCTACCACTAAGCTATTGGCAGCAGCCTTGAGGACAGGCTCCTCACTCCCAGTTCCCTGGACAGAGCTAAACTCTCGAGACTTCTCTGTGAACTTCCCTACCCTACCCCCACAACACAAGCACCCCAGACCTCACCTCCATCCCCCTCTGTCTGCCCTCACAATTAGGCTTCATTGCACTGATCTTACTCTACTGCTGCTGACATAAAACCAGGACCCTTTCTCCACAGGCAGGCTCATTTCACTAAGCTCCTCCTTTACTTTCTCTCTCCTCTTTGATGTCAAACGCCTTGAAAACAAGCCTCCACTTCCCCACACTTCCCATTTACTCTTGAGACTACTTCAATTAGTTCCCCTACTACACTTTGCTAGTGAAACTGCCCAGGCAAAGTGCACCTCAAATCTTCTAATTCCAAGATCCAATAGGATCTCGTTAATCATCAGTTCCTTTGATCTCGCTGTAAGATTTGTCAAGGCTGACTACTCACTTCTCCTTTAAATTCTTTCCTACCTTGGTCCTGCCTCTTTGAGTATATTAGTAGGTTTTTTTTATTTGTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCGGGTTCAAGCGATTCTTGTGCCTCGGCCTCCCTAGTAGCTGGGATTACAGGCGCACACCACCACACACAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGACGGAGCCTTGCTCTGTTGCCAGACTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCCATTCTGCCTCAGCCTCCCAAGTAGCTGGGAGTACAGGCGTCTGCCACCATGCCTAATTTTTTTCTATTTTTAGGAGAGACCGGTTTTCACCACGTTGGCCAGGATGGTCTCGATATCCTGATCTCGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCACAGCCCCAGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTAACCTCGGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTAGGATTACAGGCATGAGCCACTGCGCCCGGCTGAGTGTACTAGTAGTTAAGAGAATAAACTAGATCTAGAATCAGAGCTGGATTCAATTCCTGTCCTTCACATTTACTAGCTGTGCAACCTTGGGCACATAACTTAATGTCTTTGAGCCTTAGTTTTTTCATCTGTAAAACAGGGATAATAACAGCACCCCATAGAGTTGTGACGAGGATTGAGATAATCTAAGTAAAGCACAGTCCCTAGGACATAGTAAATGATTCATATATCCGAACTACTGTTATAATTATTCCTTCTTACTCTCCTCTTCTAGCATTTCTTCCAATTATTACAGTCCTTCAAGATTCCATTTCTTAACAGTCTCCAATCCCATCTATTCTCTGCCTTTACTATATGTTGACCATTCCAAAGTTCTTATCTCTAGCTCAGACATCTACTACAGCACTGTGATGCTTTATGCAACTAACTGTTTACATATCTGTCCCCTGCTACTAGATTGTGAGCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCCCCCAGCACCTAGAGTAGTGCTTGGTGCATGATAGTAGGCCTTCAATAAATTTTTTCTAAATGAATGAAATCTTTCTGGACAAGGTTACCTTAATCCCATGCCAGCTGTCCTCATCCTCTAAACCGTTCATAGGCAGCAGTAAATGTGCTCAGACAGTTCTGATTATGGACTCTCCTAACACAT
pathogenic
7,666
Chromosome 1, position 43437253, gene SZT2 (SZT2 subunit of KICSTOR complex): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Developmental_and_epileptic_encephalopathy,_18', 'SZT2-related_disorder']
GCTTCTTCAAGACCTTCATGACAGCCACGTGTGTAACTCTCTTCTGGTGGCCGAGAGTGAAGAAGATCTGTGGCGCAGTGAGACTCCCTTCCACTCCCGTCAGCGGGCACCACTGCCCAGTGATGGTGAGATCCCACCCAGGAGCCTCCCTCACAAGGCAGTGCTGCCGCCCTTTCTTTTACCGAATACTCTGGTGAAAGCTGAGGGCAGAGTCCTCATTACTTGGTCATCAGTGCCAAGTACTAGAGAGAGAGCAAGGAGGATAGGACAGGAAAGGATCACTGGCCTTGGCTGCTGCTGCGAGTTCATCAGTGATTTTCATGGAAGTAATTTCAGTAGAGAGATGGGAATAGAAAGCAGATGAAATGAAAAGTGAAAGAGGGTGATAGGTGGGGCAGAGAATAACTACTCTTACAAGTAGCTTGGCAGTGAAGAGACAGAGAAAATAGATACGGCAGTAACTAAAGGAAGATGGGGGCAAGGAAGGAGCTTTAAAATAAAGTAGAGACTTGAGCTTGTTTATATTCTATAGGGAAAGAGCCAGGGGAGGGGGAGAGGTTGAAGAATACAGAAGAGGAGAGATCACTGAAGGGGCACCAGGCCATGATCTGTCTTCCTAAGAGTCTGCTTCTGCCTGGCCCTGTCTTGTTAACCAGAATGACCGTCTTTCCCTGGCAGGGAAATAGTCAGGAATGAGGAGTTTGGGAGAGTGAGAACAAGCGGGCCAGTTCCCAAGTAAGAGAAATCCAGAGGGGAGGAGCCTGAAGGCCAGTAGAATTGCCTTCTGATTGGCTGTTCCTCCAGACAGGCAGCCACAGGACTGCTTTGGGATTTCTAGTCATGGTAAGGGAACATGATAATCCACTCAAGATGGTAACTGAAGTCTCGACACTTCTCCCTTCTCTTACTCCTGATGACCTCTCACCCAGACGGATAGAGGAAAAGCTGAACCATAACATTCCTTTGCAGTTCTCCTCTGGTTTAAAAGTAAAATCAGACCACTCCTTATTTTTAACATTCTCAGCAAGTCTGTAGACAAACGTTTCTGATATCTCCAGGAGAATGCATCTCTCAGCACATCCTGGGATCTCCTCCATATCGAAGCAGAGTCCCCATAGTTAGTGGATTCCCATGGTTTCAAAGGCATCTTCTGCAAATTGAAGATGAGCTAGGACAGGTGAACAATTTTACTTCAGAATGACTTCCGGCAGCCTAAGATGTAAGACCAGTCAGAACCCAGACACAGCCCTTCCTCATTTTAGTCTCTCCAGAATTTTTCCCTGAAACCCTTAGCAACCAGCATTCCATTCCAGAGCCTCTGCCTTTACACAGAAACTTCAGCCTCCTGGGTAGCCTGTGTGCTGTTCACACTTGACAGCAGCTTCTCTGAGAAAACTGCCACTTTGATTCACCAGAAGGCTCCCTGGAAACCTGAAAAGGGTCGAAGGAGGCATTGTACTGTGGCCATGGGCTCCTGTGTACTGCCACACTACCCTTTGGGTTTATTGGCGTTTCTGTCTTCCAAAGCCCAGGACAAAGTTTATCCCTCCTCTGCAGCTGGTGTGCATAAGCAGCCATACCCTTTTGGTTTTAATGAGATTACTGTTGCAACTCCCTGGAGGACATAGTGTTAGAGTGCTACTGACATATATTATGACAGGGTCAGAATCTCTTGGCATGATCTTGAGGATTTCCTCATGCTTTGCCTGCCTTGATACCTCTCATTAGCTCCTTCTCTAAGTCTCCTTGAGATAGTTCTGGAAGCCTTTGTGCTATATGACCTGTGTTCCTAAGGGCATGCATCTGCCTGGCCCTGTCGTGTTACCCAGAATGATCATCATTTCTCTGCAATAGTCAGGGATGAGTCTGGAGGAGTGAGGACAAGTAGGCCAGTTCCCAGGTGAGAAGTCTGTGGAGGGCAGAGGGTGGTGTGTCCCATTTCTAATCCCTGCTCCCCCTCACCCAGATTATGCTGCTGATGAGAGCTGTGCGCCCCGTGGGTACCTGGCAGCCACAATGCAGTTTGTCCCTGGCCATTTCTCCTGTGACGTTGTGTGGGGAACTGTGATCCGAGTCCATTCACGCCTCAAAATGGGGCCCAGCATGGGGGTCTCTCGGGGTATGTGATTGGCATGAGAGGGCAGGTGAGCATTGGAAGGATCTGGAAAAGGCAGTTTCCTGAGCCCATGTTATTCCCCCAGCCATCCAGGCCCTGCGCTCTGTGCTCAATGCCTTCTCTGTGGTGAACCGGAAAAACATGTTTGTTTACCAGGAGCGAGCAACAAAGGCTGTGTACTATCTTCGGTATGTGGCCCTTGGAAGGTGGGTAGGGCATGAATTAAGGATGGCCTGGGAGGAGGCATGTCCAAAGACATGCTGCTCTTTCCCAGGCTCCTAGAGACATCCTGCAGTGACCGGCCATGGAAAGGGGATGCGCTGCCCCCTTCCCTCGCTCTGTCCCGAAGCCAAGAGCCCATCTACTCTGAGGAAGCCTCGGCATGTATCACTCCCACTCTCTGATGCCCCTGTGTTCCTCTTGCACTTTGCTCTCTGGAACCGGGGCCCTGACCACAGTTTTCCCTGTAGGGTCCTCGTTCTCCCTTAGACATGGTCTCTAGCCGCAGTTCAGATGCTGCTCGTCCTGTGGGCCAAGTGGACAGACATATCCAGCTGCTGGTCCATGGTGTTGGGCAGGCAGGTAAGGTCTGAGGAGGGGGTAGGGGAGTCGCCACATGAGGTTCCAGAATCCTCTGGGACTTCTCTTAGAACCTTGCAAGCATTACACTAGAAGTTATGTAACAGTCTCAGCCCAAGACCTGACACATGTTAAGTGAGCCATAAATACTAGCTGGAGGCTCCAGACCCTCTGGGACTTCTCTTAGAACCTCCTATTACTCTGCCCTGGGTCCCTCCTCTAGTTCCTGCTGTGCTCGGGTCTTTCCTCAAGCAGGAGCTGCATGGGAAGGGACTGGCTTCTGCCATGTTCAGGGTTAGGACTGCAGTTGACTGAGGCACAGCTTGGGGAAGGGGAGCTGGGGTGGCTGGAGAACTGGTGGTGCCACCGACCTGATACCAGACTGGGTTCGGGGTGAAGAGGATGGTTATTTGGGATATATTTTGCCCCAGGTGTCCAGTAGGCAACTGGATTTTCCAGCTAATATTTATAGCTCAATTAACATGTGCTGGTCTTGGGCTGAGACTGTTAAATAACTTCTAGTGTAATTCTTGCAACAAACCTATGAGGGCGATGCTATTATAATTCTCATTTTATGGATGAAGGCACAGAGGTTTTGAGAGTAAAACTCAAGTGTCCATAGTGACATAACGAGTAGTTTGGCAGAATTGGAACCTAGTGCTGGCTACCTCCAGAGCCAGCACTCCTAACACTGCCTCTAGTATACAGGGGATTCTTTGAGTTTGGCATGATAGGGCTGCTATGGAGGTAGCTGGATCCTCTACCAGTGTCCCCACCTTCCCACCATGGCTGTGTCAAGGTCCTGAGATCACGGATGAGCTCGTGCGAGTTCTATGTCGGCGCCTGGATGAGGCCACGCTGGACGTCATCACAGTTATGCTTGTTCGGAACTGCAAGCTGACACCAGCTGATGTGGAGGTCAGCTCCCCTCTAGGCACCAGCATCCTTCCCAGACTCAGCCACAGGTTCCAGGACAGTCTAGGCTGGAACTTCTGCATTCAGCTCTGCCCTCTTCTTCCCACTCTGCAGTTCATCCAGCCCCCTGGAAGTCTCCCCTCAGAGGTGCTGCATCTGGCCCTACCCACCTCCTGCAGGCCCTGGCTTCCAGCCCTGGCATGGTACCTACGGCAGAACTTGCTCATCTTCCTGCACTCTCCCAAGTACACAGATAGCAACAGCCGGAACCACTTCCAAGTGAGATGGCACTCATCTCTCTCCACACTCATGTGCACCCCTGCCCCCTGCCCCACGCACTTACTCTTTCCTACCGATACCCCTATATGTACCTTTGCCCATGGACCTGGGTACACCCATGCCCCCCCGGGGACCATTATTACCCGCCTGTGTCTTCTCATGCTCCCATATCTACCTGCACCACATTCCCCACTGTGGGCACCCATC
GCTTCTTCAAGACCTTCATGACAGCCACGTGTGTAACTCTCTTCTGGTGGCCGAGAGTGAAGAAGATCTGTGGCGCAGTGAGACTCCCTTCCACTCCCGTCAGCGGGCACCACTGCCCAGTGATGGTGAGATCCCACCCAGGAGCCTCCCTCACAAGGCAGTGCTGCCGCCCTTTCTTTTACCGAATACTCTGGTGAAAGCTGAGGGCAGAGTCCTCATTACTTGGTCATCAGTGCCAAGTACTAGAGAGAGAGCAAGGAGGATAGGACAGGAAAGGATCACTGGCCTTGGCTGCTGCTGCGAGTTCATCAGTGATTTTCATGGAAGTAATTTCAGTAGAGAGATGGGAATAGAAAGCAGATGAAATGAAAAGTGAAAGAGGGTGATAGGTGGGGCAGAGAATAACTACTCTTACAAGTAGCTTGGCAGTGAAGAGACAGAGAAAATAGATACGGCAGTAACTAAAGGAAGATGGGGGCAAGGAAGGAGCTTTAAAATAAAGTAGAGACTTGAGCTTGTTTATATTCTATAGGGAAAGAGCCAGGGGAGGGGGAGAGGTTGAAGAATACAGAAGAGGAGAGATCACTGAAGGGGCACCAGGCCATGATCTGTCTTCCTAAGAGTCTGCTTCTGCCTGGCCCTGTCTTGTTAACCAGAATGACCGTCTTTCCCTGGCAGGGAAATAGTCAGGAATGAGGAGTTTGGGAGAGTGAGAACAAGCGGGCCAGTTCCCAAGTAAGAGAAATCCAGAGGGGAGGAGCCTGAAGGCCAGTAGAATTGCCTTCTGATTGGCTGTTCCTCCAGACAGGCAGCCACAGGACTGCTTTGGGATTTCTAGTCATGGTAAGGGAACATGATAATCCACTCAAGATGGTAACTGAAGTCTCGACACTTCTCCCTTCTCTTACTCCTGATGACCTCTCACCCAGACGGATAGAGGAAAAGCTGAACCATAACATTCCTTTGCAGTTCTCCTCTGGTTTAAAAGTAAAATCAGACCACTCCTTATTTTTAACATTCTCAGCAAGTCTGTAGACAAACGTTTCTGATATCTCCAGGAGAATGCATCTCTCAGCACATCCTGGGATCTCCTCCATATCGAAGCAGAGTCCCCATAGTTAGTGGATTCCCATGGTTTCAAAGGCATCTTCTGCAAATTGAAGATGAGCTAGGACAGGTGAACAATTTTACTTCAGAATGACTTCCGGCAGCCTAAGATGTAAGACCAGTCAGAACCCAGACACAGCCCTTCCTCATTTTAGTCTCTCCAGAATTTTTCCCTGAAACCCTTAGCAACCAGCATTCCATTCCAGAGCCTCTGCCTTTACACAGAAACTTCAGCCTCCTGGGTAGCCTGTGTGCTGTTCACACTTGACAGCAGCTTCTCTGAGAAAACTGCCACTTTGATTCACCAGAAGGCTCCCTGGAAACCTGAAAAGGGTCGAAGGAGGCATTGTACTGTGGCCATGGGCTCCTGTGTACTGCCACACTACCCTTTGGGTTTATTGGCGTTTCTGTCTTCCAAAGCCCAGGACAAAGTTTATCCCTCCTCTGCAGCTGGTGTGCATAAGCAGCCATACCCTTTTGGTTTTAATGAGATTACTGTTGCAACTCCCTGGAGGACATAGTGTTAGAGTGCTACTGACATATATTATGACAGGGTCAGAATCTCTTGGCATGATCTTGAGGATTTCCTCATGCTTTGCCTGCCTTGATACCTCTCATTAGCTCCTTCTCTAAGTCTCCTTGAGATAGTTCTGGAAGCCTTTGTGCTATATGACCTGTGTTCCTAAGGGCATGCATCTGCCTGGCCCTGTCGTGTTACCCAGAATGATCATCATTTCTCTGCAATAGTCAGGGATGAGTCTGGAGGAGTGAGGACAAGTAGGCCAGTTCCCAGGTGAGAAGTCTGTGGAGGGCAGAGGGTGGTGTGTCCCATTTCTAATCCCTGCTCCCCCTCACCCAGATTATGCTGCTGATGAGAGCTGTGCGCCCCGTGGGTACCTGGCAGCCACAATGCAGTTTGTCCCTGGCCATTTCTCCTGTGACGTGTGGGGAACTGTGATCCGAGTCCATTCACGCCTCAAAATGGGGCCCAGCATGGGGGTCTCTCGGGGTATGTGATTGGCATGAGAGGGCAGGTGAGCATTGGAAGGATCTGGAAAAGGCAGTTTCCTGAGCCCATGTTATTCCCCCAGCCATCCAGGCCCTGCGCTCTGTGCTCAATGCCTTCTCTGTGGTGAACCGGAAAAACATGTTTGTTTACCAGGAGCGAGCAACAAAGGCTGTGTACTATCTTCGGTATGTGGCCCTTGGAAGGTGGGTAGGGCATGAATTAAGGATGGCCTGGGAGGAGGCATGTCCAAAGACATGCTGCTCTTTCCCAGGCTCCTAGAGACATCCTGCAGTGACCGGCCATGGAAAGGGGATGCGCTGCCCCCTTCCCTCGCTCTGTCCCGAAGCCAAGAGCCCATCTACTCTGAGGAAGCCTCGGCATGTATCACTCCCACTCTCTGATGCCCCTGTGTTCCTCTTGCACTTTGCTCTCTGGAACCGGGGCCCTGACCACAGTTTTCCCTGTAGGGTCCTCGTTCTCCCTTAGACATGGTCTCTAGCCGCAGTTCAGATGCTGCTCGTCCTGTGGGCCAAGTGGACAGACATATCCAGCTGCTGGTCCATGGTGTTGGGCAGGCAGGTAAGGTCTGAGGAGGGGGTAGGGGAGTCGCCACATGAGGTTCCAGAATCCTCTGGGACTTCTCTTAGAACCTTGCAAGCATTACACTAGAAGTTATGTAACAGTCTCAGCCCAAGACCTGACACATGTTAAGTGAGCCATAAATACTAGCTGGAGGCTCCAGACCCTCTGGGACTTCTCTTAGAACCTCCTATTACTCTGCCCTGGGTCCCTCCTCTAGTTCCTGCTGTGCTCGGGTCTTTCCTCAAGCAGGAGCTGCATGGGAAGGGACTGGCTTCTGCCATGTTCAGGGTTAGGACTGCAGTTGACTGAGGCACAGCTTGGGGAAGGGGAGCTGGGGTGGCTGGAGAACTGGTGGTGCCACCGACCTGATACCAGACTGGGTTCGGGGTGAAGAGGATGGTTATTTGGGATATATTTTGCCCCAGGTGTCCAGTAGGCAACTGGATTTTCCAGCTAATATTTATAGCTCAATTAACATGTGCTGGTCTTGGGCTGAGACTGTTAAATAACTTCTAGTGTAATTCTTGCAACAAACCTATGAGGGCGATGCTATTATAATTCTCATTTTATGGATGAAGGCACAGAGGTTTTGAGAGTAAAACTCAAGTGTCCATAGTGACATAACGAGTAGTTTGGCAGAATTGGAACCTAGTGCTGGCTACCTCCAGAGCCAGCACTCCTAACACTGCCTCTAGTATACAGGGGATTCTTTGAGTTTGGCATGATAGGGCTGCTATGGAGGTAGCTGGATCCTCTACCAGTGTCCCCACCTTCCCACCATGGCTGTGTCAAGGTCCTGAGATCACGGATGAGCTCGTGCGAGTTCTATGTCGGCGCCTGGATGAGGCCACGCTGGACGTCATCACAGTTATGCTTGTTCGGAACTGCAAGCTGACACCAGCTGATGTGGAGGTCAGCTCCCCTCTAGGCACCAGCATCCTTCCCAGACTCAGCCACAGGTTCCAGGACAGTCTAGGCTGGAACTTCTGCATTCAGCTCTGCCCTCTTCTTCCCACTCTGCAGTTCATCCAGCCCCCTGGAAGTCTCCCCTCAGAGGTGCTGCATCTGGCCCTACCCACCTCCTGCAGGCCCTGGCTTCCAGCCCTGGCATGGTACCTACGGCAGAACTTGCTCATCTTCCTGCACTCTCCCAAGTACACAGATAGCAACAGCCGGAACCACTTCCAAGTGAGATGGCACTCATCTCTCTCCACACTCATGTGCACCCCTGCCCCCTGCCCCACGCACTTACTCTTTCCTACCGATACCCCTATATGTACCTTTGCCCATGGACCTGGGTACACCCATGCCCCCCCGGGGACCATTATTACCCGCCTGTGTCTTCTCATGCTCCCATATCTACCTGCACCACATTCCCCACTGTGGGCACCCATCNNN
pathogenic
7,826
Variant on chromosome 1, at position 43437462, affecting SZT2 (SZT2 subunit of KICSTOR complex): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic
GAGTCCTCATTACTTGGTCATCAGTGCCAAGTACTAGAGAGAGAGCAAGGAGGATAGGACAGGAAAGGATCACTGGCCTTGGCTGCTGCTGCGAGTTCATCAGTGATTTTCATGGAAGTAATTTCAGTAGAGAGATGGGAATAGAAAGCAGATGAAATGAAAAGTGAAAGAGGGTGATAGGTGGGGCAGAGAATAACTACTCTTACAAGTAGCTTGGCAGTGAAGAGACAGAGAAAATAGATACGGCAGTAACTAAAGGAAGATGGGGGCAAGGAAGGAGCTTTAAAATAAAGTAGAGACTTGAGCTTGTTTATATTCTATAGGGAAAGAGCCAGGGGAGGGGGAGAGGTTGAAGAATACAGAAGAGGAGAGATCACTGAAGGGGCACCAGGCCATGATCTGTCTTCCTAAGAGTCTGCTTCTGCCTGGCCCTGTCTTGTTAACCAGAATGACCGTCTTTCCCTGGCAGGGAAATAGTCAGGAATGAGGAGTTTGGGAGAGTGAGAACAAGCGGGCCAGTTCCCAAGTAAGAGAAATCCAGAGGGGAGGAGCCTGAAGGCCAGTAGAATTGCCTTCTGATTGGCTGTTCCTCCAGACAGGCAGCCACAGGACTGCTTTGGGATTTCTAGTCATGGTAAGGGAACATGATAATCCACTCAAGATGGTAACTGAAGTCTCGACACTTCTCCCTTCTCTTACTCCTGATGACCTCTCACCCAGACGGATAGAGGAAAAGCTGAACCATAACATTCCTTTGCAGTTCTCCTCTGGTTTAAAAGTAAAATCAGACCACTCCTTATTTTTAACATTCTCAGCAAGTCTGTAGACAAACGTTTCTGATATCTCCAGGAGAATGCATCTCTCAGCACATCCTGGGATCTCCTCCATATCGAAGCAGAGTCCCCATAGTTAGTGGATTCCCATGGTTTCAAAGGCATCTTCTGCAAATTGAAGATGAGCTAGGACAGGTGAACAATTTTACTTCAGAATGACTTCCGGCAGCCTAAGATGTAAGACCAGTCAGAACCCAGACACAGCCCTTCCTCATTTTAGTCTCTCCAGAATTTTTCCCTGAAACCCTTAGCAACCAGCATTCCATTCCAGAGCCTCTGCCTTTACACAGAAACTTCAGCCTCCTGGGTAGCCTGTGTGCTGTTCACACTTGACAGCAGCTTCTCTGAGAAAACTGCCACTTTGATTCACCAGAAGGCTCCCTGGAAACCTGAAAAGGGTCGAAGGAGGCATTGTACTGTGGCCATGGGCTCCTGTGTACTGCCACACTACCCTTTGGGTTTATTGGCGTTTCTGTCTTCCAAAGCCCAGGACAAAGTTTATCCCTCCTCTGCAGCTGGTGTGCATAAGCAGCCATACCCTTTTGGTTTTAATGAGATTACTGTTGCAACTCCCTGGAGGACATAGTGTTAGAGTGCTACTGACATATATTATGACAGGGTCAGAATCTCTTGGCATGATCTTGAGGATTTCCTCATGCTTTGCCTGCCTTGATACCTCTCATTAGCTCCTTCTCTAAGTCTCCTTGAGATAGTTCTGGAAGCCTTTGTGCTATATGACCTGTGTTCCTAAGGGCATGCATCTGCCTGGCCCTGTCGTGTTACCCAGAATGATCATCATTTCTCTGCAATAGTCAGGGATGAGTCTGGAGGAGTGAGGACAAGTAGGCCAGTTCCCAGGTGAGAAGTCTGTGGAGGGCAGAGGGTGGTGTGTCCCATTTCTAATCCCTGCTCCCCCTCACCCAGATTATGCTGCTGATGAGAGCTGTGCGCCCCGTGGGTACCTGGCAGCCACAATGCAGTTTGTCCCTGGCCATTTCTCCTGTGACGTTGTGTGGGGAACTGTGATCCGAGTCCATTCACGCCTCAAAATGGGGCCCAGCATGGGGGTCTCTCGGGGTATGTGATTGGCATGAGAGGGCAGGTGAGCATTGGAAGGATCTGGAAAAGGCAGTTTCCTGAGCCCATGTTATTCCCCCAGCCATCCAGGCCCTGCGCTCTGTGCTCAATGCCTTCTCTGTGGTGAACCGGAAAAACATGTTTGTTTACCAGGAGCGAGCAACAAAGGCTGTGTACTATCTTCGGTATGTGGCCCTTGGAAGGTGGGTAGGGCATGAATTAAGGATGGCCTGGGAGGAGGCATGTCCAAAGACATGCTGCTCTTTCCCAGGCTCCTAGAGACATCCTGCAGTGACCGGCCATGGAAAGGGGATGCGCTGCCCCCTTCCCTCGCTCTGTCCCGAAGCCAAGAGCCCATCTACTCTGAGGAAGCCTCGGCATGTATCACTCCCACTCTCTGATGCCCCTGTGTTCCTCTTGCACTTTGCTCTCTGGAACCGGGGCCCTGACCACAGTTTTCCCTGTAGGGTCCTCGTTCTCCCTTAGACATGGTCTCTAGCCGCAGTTCAGATGCTGCTCGTCCTGTGGGCCAAGTGGACAGACATATCCAGCTGCTGGTCCATGGTGTTGGGCAGGCAGGTAAGGTCTGAGGAGGGGGTAGGGGAGTCGCCACATGAGGTTCCAGAATCCTCTGGGACTTCTCTTAGAACCTTGCAAGCATTACACTAGAAGTTATGTAACAGTCTCAGCCCAAGACCTGACACATGTTAAGTGAGCCATAAATACTAGCTGGAGGCTCCAGACCCTCTGGGACTTCTCTTAGAACCTCCTATTACTCTGCCCTGGGTCCCTCCTCTAGTTCCTGCTGTGCTCGGGTCTTTCCTCAAGCAGGAGCTGCATGGGAAGGGACTGGCTTCTGCCATGTTCAGGGTTAGGACTGCAGTTGACTGAGGCACAGCTTGGGGAAGGGGAGCTGGGGTGGCTGGAGAACTGGTGGTGCCACCGACCTGATACCAGACTGGGTTCGGGGTGAAGAGGATGGTTATTTGGGATATATTTTGCCCCAGGTGTCCAGTAGGCAACTGGATTTTCCAGCTAATATTTATAGCTCAATTAACATGTGCTGGTCTTGGGCTGAGACTGTTAAATAACTTCTAGTGTAATTCTTGCAACAAACCTATGAGGGCGATGCTATTATAATTCTCATTTTATGGATGAAGGCACAGAGGTTTTGAGAGTAAAACTCAAGTGTCCATAGTGACATAACGAGTAGTTTGGCAGAATTGGAACCTAGTGCTGGCTACCTCCAGAGCCAGCACTCCTAACACTGCCTCTAGTATACAGGGGATTCTTTGAGTTTGGCATGATAGGGCTGCTATGGAGGTAGCTGGATCCTCTACCAGTGTCCCCACCTTCCCACCATGGCTGTGTCAAGGTCCTGAGATCACGGATGAGCTCGTGCGAGTTCTATGTCGGCGCCTGGATGAGGCCACGCTGGACGTCATCACAGTTATGCTTGTTCGGAACTGCAAGCTGACACCAGCTGATGTGGAGGTCAGCTCCCCTCTAGGCACCAGCATCCTTCCCAGACTCAGCCACAGGTTCCAGGACAGTCTAGGCTGGAACTTCTGCATTCAGCTCTGCCCTCTTCTTCCCACTCTGCAGTTCATCCAGCCCCCTGGAAGTCTCCCCTCAGAGGTGCTGCATCTGGCCCTACCCACCTCCTGCAGGCCCTGGCTTCCAGCCCTGGCATGGTACCTACGGCAGAACTTGCTCATCTTCCTGCACTCTCCCAAGTACACAGATAGCAACAGCCGGAACCACTTCCAAGTGAGATGGCACTCATCTCTCTCCACACTCATGTGCACCCCTGCCCCCTGCCCCACGCACTTACTCTTTCCTACCGATACCCCTATATGTACCTTTGCCCATGGACCTGGGTACACCCATGCCCCCCCGGGGACCATTATTACCCGCCTGTGTCTTCTCATGCTCCCATATCTACCTGCACCACATTCCCCACTGTGGGCACCCATCCCCGAGGGTTTTGTCCATTTGCTTGCTCTTAGTGCTCTGTGGCTGTTCTTTCCCCAGCATCCACTCCCACCACAGGGTGGCCTCCCTGACTTGGACATCTACTTGTATAACAAGCCTGGTGGACAGGGCACTGGGGGCAAAGGTACGGTGCAGGGCACGGGCCTGTGGCACCACCAGGTGAGGGAAAGCCTTTTGTCATCCTATTGCTA
GAGTCCTCATTACTTGGTCATCAGTGCCAAGTACTAGAGAGAGAGCAAGGAGGATAGGACAGGAAAGGATCACTGGCCTTGGCTGCTGCTGCGAGTTCATCAGTGATTTTCATGGAAGTAATTTCAGTAGAGAGATGGGAATAGAAAGCAGATGAAATGAAAAGTGAAAGAGGGTGATAGGTGGGGCAGAGAATAACTACTCTTACAAGTAGCTTGGCAGTGAAGAGACAGAGAAAATAGATACGGCAGTAACTAAAGGAAGATGGGGGCAAGGAAGGAGCTTTAAAATAAAGTAGAGACTTGAGCTTGTTTATATTCTATAGGGAAAGAGCCAGGGGAGGGGGAGAGGTTGAAGAATACAGAAGAGGAGAGATCACTGAAGGGGCACCAGGCCATGATCTGTCTTCCTAAGAGTCTGCTTCTGCCTGGCCCTGTCTTGTTAACCAGAATGACCGTCTTTCCCTGGCAGGGAAATAGTCAGGAATGAGGAGTTTGGGAGAGTGAGAACAAGCGGGCCAGTTCCCAAGTAAGAGAAATCCAGAGGGGAGGAGCCTGAAGGCCAGTAGAATTGCCTTCTGATTGGCTGTTCCTCCAGACAGGCAGCCACAGGACTGCTTTGGGATTTCTAGTCATGGTAAGGGAACATGATAATCCACTCAAGATGGTAACTGAAGTCTCGACACTTCTCCCTTCTCTTACTCCTGATGACCTCTCACCCAGACGGATAGAGGAAAAGCTGAACCATAACATTCCTTTGCAGTTCTCCTCTGGTTTAAAAGTAAAATCAGACCACTCCTTATTTTTAACATTCTCAGCAAGTCTGTAGACAAACGTTTCTGATATCTCCAGGAGAATGCATCTCTCAGCACATCCTGGGATCTCCTCCATATCGAAGCAGAGTCCCCATAGTTAGTGGATTCCCATGGTTTCAAAGGCATCTTCTGCAAATTGAAGATGAGCTAGGACAGGTGAACAATTTTACTTCAGAATGACTTCCGGCAGCCTAAGATGTAAGACCAGTCAGAACCCAGACACAGCCCTTCCTCATTTTAGTCTCTCCAGAATTTTTCCCTGAAACCCTTAGCAACCAGCATTCCATTCCAGAGCCTCTGCCTTTACACAGAAACTTCAGCCTCCTGGGTAGCCTGTGTGCTGTTCACACTTGACAGCAGCTTCTCTGAGAAAACTGCCACTTTGATTCACCAGAAGGCTCCCTGGAAACCTGAAAAGGGTCGAAGGAGGCATTGTACTGTGGCCATGGGCTCCTGTGTACTGCCACACTACCCTTTGGGTTTATTGGCGTTTCTGTCTTCCAAAGCCCAGGACAAAGTTTATCCCTCCTCTGCAGCTGGTGTGCATAAGCAGCCATACCCTTTTGGTTTTAATGAGATTACTGTTGCAACTCCCTGGAGGACATAGTGTTAGAGTGCTACTGACATATATTATGACAGGGTCAGAATCTCTTGGCATGATCTTGAGGATTTCCTCATGCTTTGCCTGCCTTGATACCTCTCATTAGCTCCTTCTCTAAGTCTCCTTGAGATAGTTCTGGAAGCCTTTGTGCTATATGACCTGTGTTCCTAAGGGCATGCATCTGCCTGGCCCTGTCGTGTTACCCAGAATGATCATCATTTCTCTGCAATAGTCAGGGATGAGTCTGGAGGAGTGAGGACAAGTAGGCCAGTTCCCAGGTGAGAAGTCTGTGGAGGGCAGAGGGTGGTGTGTCCCATTTCTAATCCCTGCTCCCCCTCACCCAGATTATGCTGCTGATGAGAGCTGTGCGCCCCGTGGGTACCTGGCAGCCACAATGCAGTTTGTCCCTGGCCATTTCTCCTGTGACGTTGTGTGGGGAACTGTGATCCGAGTCCATTCACGCCTCAAAATGGGGCCCAGCATGGGGGTCTCTCGGGGTATGTGATTGGCATGAGAGGGCAGGTGAGCATTGGAAGGATCTGGAAAAGGCAGTTTCCTGAGCCCATGTTATTCCCCCAGCCATCCAGGCCCTGCGCTCTGTGCTCAATGCCTTCTCTGTGGTGAACCGGAAAAACATGTTTACCAGGAGCGAGCAACAAAGGCTGTGTACTATCTTCGGTATGTGGCCCTTGGAAGGTGGGTAGGGCATGAATTAAGGATGGCCTGGGAGGAGGCATGTCCAAAGACATGCTGCTCTTTCCCAGGCTCCTAGAGACATCCTGCAGTGACCGGCCATGGAAAGGGGATGCGCTGCCCCCTTCCCTCGCTCTGTCCCGAAGCCAAGAGCCCATCTACTCTGAGGAAGCCTCGGCATGTATCACTCCCACTCTCTGATGCCCCTGTGTTCCTCTTGCACTTTGCTCTCTGGAACCGGGGCCCTGACCACAGTTTTCCCTGTAGGGTCCTCGTTCTCCCTTAGACATGGTCTCTAGCCGCAGTTCAGATGCTGCTCGTCCTGTGGGCCAAGTGGACAGACATATCCAGCTGCTGGTCCATGGTGTTGGGCAGGCAGGTAAGGTCTGAGGAGGGGGTAGGGGAGTCGCCACATGAGGTTCCAGAATCCTCTGGGACTTCTCTTAGAACCTTGCAAGCATTACACTAGAAGTTATGTAACAGTCTCAGCCCAAGACCTGACACATGTTAAGTGAGCCATAAATACTAGCTGGAGGCTCCAGACCCTCTGGGACTTCTCTTAGAACCTCCTATTACTCTGCCCTGGGTCCCTCCTCTAGTTCCTGCTGTGCTCGGGTCTTTCCTCAAGCAGGAGCTGCATGGGAAGGGACTGGCTTCTGCCATGTTCAGGGTTAGGACTGCAGTTGACTGAGGCACAGCTTGGGGAAGGGGAGCTGGGGTGGCTGGAGAACTGGTGGTGCCACCGACCTGATACCAGACTGGGTTCGGGGTGAAGAGGATGGTTATTTGGGATATATTTTGCCCCAGGTGTCCAGTAGGCAACTGGATTTTCCAGCTAATATTTATAGCTCAATTAACATGTGCTGGTCTTGGGCTGAGACTGTTAAATAACTTCTAGTGTAATTCTTGCAACAAACCTATGAGGGCGATGCTATTATAATTCTCATTTTATGGATGAAGGCACAGAGGTTTTGAGAGTAAAACTCAAGTGTCCATAGTGACATAACGAGTAGTTTGGCAGAATTGGAACCTAGTGCTGGCTACCTCCAGAGCCAGCACTCCTAACACTGCCTCTAGTATACAGGGGATTCTTTGAGTTTGGCATGATAGGGCTGCTATGGAGGTAGCTGGATCCTCTACCAGTGTCCCCACCTTCCCACCATGGCTGTGTCAAGGTCCTGAGATCACGGATGAGCTCGTGCGAGTTCTATGTCGGCGCCTGGATGAGGCCACGCTGGACGTCATCACAGTTATGCTTGTTCGGAACTGCAAGCTGACACCAGCTGATGTGGAGGTCAGCTCCCCTCTAGGCACCAGCATCCTTCCCAGACTCAGCCACAGGTTCCAGGACAGTCTAGGCTGGAACTTCTGCATTCAGCTCTGCCCTCTTCTTCCCACTCTGCAGTTCATCCAGCCCCCTGGAAGTCTCCCCTCAGAGGTGCTGCATCTGGCCCTACCCACCTCCTGCAGGCCCTGGCTTCCAGCCCTGGCATGGTACCTACGGCAGAACTTGCTCATCTTCCTGCACTCTCCCAAGTACACAGATAGCAACAGCCGGAACCACTTCCAAGTGAGATGGCACTCATCTCTCTCCACACTCATGTGCACCCCTGCCCCCTGCCCCACGCACTTACTCTTTCCTACCGATACCCCTATATGTACCTTTGCCCATGGACCTGGGTACACCCATGCCCCCCCGGGGACCATTATTACCCGCCTGTGTCTTCTCATGCTCCCATATCTACCTGCACCACATTCCCCACTGTGGGCACCCATCCCCGAGGGTTTTGTCCATTTGCTTGCTCTTAGTGCTCTGTGGCTGTTCTTTCCCCAGCATCCACTCCCACCACAGGGTGGCCTCCCTGACTTGGACATCTACTTGTATAACAAGCCTGGTGGACAGGGCACTGGGGGCAAAGGTACGGTGCAGGGCACGGGCCTGTGGCACCACCAGGTGAGGGAAAGCCTTTTGTCATCCTATTGCTANNNN
pathogenic
7,828
Variant in gene SZT2 (SZT2 subunit of KICSTOR complex), located at chromosome 1 position 43441356: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Developmental_and_epileptic_encephalopathy,_18']
GTTTTGTCCATTTGCTTGCTCTTAGTGCTCTGTGGCTGTTCTTTCCCCAGCATCCACTCCCACCACAGGGTGGCCTCCCTGACTTGGACATCTACTTGTATAACAAGCCTGGTGGACAGGGCACTGGGGGCAAAGGTACGGTGCAGGGCACGGGCCTGTGGCACCACCAGGTGAGGGAAAGCCTTTTGTCATCCTATTGCTAAGAGGACATTTCCCAGGCTTGCAGCTGAGTGGAGGGTCGTGGGAGGGGTGGTCTGCAAGTCCCAGAGCTGAGCCTTCCTATGGATTTCTACCCAGGGGTTGCCTGCATCACTCTAGCCTTTGTGGATGAAGGAGGGGCCCCCTTGTCACTGGCGTTGTGGCCCCCCTCCTCTCCGGGGCCCCCAGACCCACTGCGAGAGGAGGAATTTGAGCAACTGACCCAGGTCATCCGCTGCCCGGTTGTTGTGGACAGTTCTTCAGGTGGGACAGCTTGGTCAGAGGATGAGGTGTTCAGTTATTGCTGTGGGAGGTAAGGGTGGTGAGTAGAGTGGGATCTAGGGACACCCTCAAGTGTCCCTGTTCTCCTTCCAGCTCAGAATGGGGCCCCACGGCTTCGATTGGATGTGTGGGAAAAGGGGAACATTAGTATTGTGCAGCTGGAGGAGAAACTCCGAGGAGCAGCTCGCCAGGCCCTGGCCGATGCCATCATCGAGCTTCAGCTGCTGCCAGCTTCACTATGTACAGAGGACACACCCACAGGTATGCAAGTCAAGAGGTCCCTGGGGTCCAGAGAATGTCACAGATCCAAGCAGGACAGTGTGGCAGGTGAGCGTGCAAAGGTGGGGTTTAGGGGAAGCATGTCAGAGAACTACTACATCAGAACCACTTATTCACAGTTGTCCGTGAGCTTGTCTGGGCATCATCCAGGTGCTACACTGGCAGCAGTGAACGGATGCAGCTGCTCACCCACTTAGAGAGGGCTATTGCATCAGAGGCTCACTTCACACAAACACATGCAGCAGCACACTATCAGTTGTATATACTGTCATTCACTGACAGGTAGAATAGGTGGCAAGTCACTGTCATACCAGTCTTGAGGTTCAGTTTTCTAGAATGGGGATTGATGATCAGTGATGGGTGTCTGTAATGTCTGATGTCCACAGGAAGTCTCAGGAACGGATCGTTGGAAACTAAGAGCTCTGCAGGCCGAGCTAGCACCTTTCCCCCTGCCCCTGTCCCTGGGGAGCCTGTGACTCCACCCAGCAAAGCGGGCCGGCGTAGCTTCTGGGATATGCTGGTAATGGAAGAAGTGGTGAAGTGGGCATCTACCTTTCTGCCTGCCTCCTAGCTCCTCCCACACTCCCTCCTGCTTCCCAGTCCCCCATAGGCCTTGCCACAGTGTCCTTTCATATAAAACTGCTCTGTCCTGCCAGACACCATGGCGTGTACCTTTAGTCCCAGCTCCTCAGGAGGATGAAATGGGAGGATTTTGCTTCAGGCCAAGAGTTCAAGGCTGTAGTACGTTGTGATCATGCCTGTTAATGCACTCCAGCCTGGGCAACACACAAACACTCTGTCTCAAAAAAGCAAAACAAAAACTGCTCTGTCTTTTGGACTGGAGTTTGTAGAATGTGGCAGTTCTCACTGATGTAGAGGGAGCCTTAACTTACTATGTGCCTTCACTTCCATTTTTCTTGTCGGATCCTCACAACAGCTTGCAAGATAAGTAGAGCTTTTACAGTGAGGAAGGTGAGGCTCAGGAAAGTTAGGTAACCTGCCCAAGGCTCCTTAGCCAGCCCCTGGGGAAGCCAGGGTCTGAACCCAGACCTCTGAATCCTCCTAGCTCACTGCTGTTCCATAGTGCCCCCATCCCACACCTTTCCTCTTCCCAGTAGCCCTTCCTCATTCACTGCATTGCCCCCAGAGTAAAACAGAATGTGGGGATTTGGGTTCCCCCAAAACAACTGATGACATTGTCCTGGATCGGCCAGAAGACACTCGGGGCCGGAGGCGTCACAAAACCGAGAGTGTTCGGACTCCTGGTGGAGCTGAGCGGGCGCCAGGCTCAGATTCTGGAGCCCAGAGACAAAAGTATGTGTGTGGTGGTGGTGTGCCCTGGGAGGGTATGGGTGTGAAGTCACAGATGGGCCTTGGTCTGTATAAACATACAAGTGTCATGTATGGACATGAGGCTCTTACTCCCACTGTCTTCAGGCGCCGGACAACACAGCTAGAAGAGGGTGAGGTGGGGACCCTTCATCCTGTGTTTGCCCGTGTTGCTCAGCGCTGGATGGAGTTTATGGTTCAGATTGGTGAGACCCCAGCCTCCCCTCCCATCCCTCAACCCCAGCCTGGTCTCCATCCTGCAGCTCCACAGTGACTCCTCTGCCTCCTAGGTTGTGCCTCAGTGTCCAGAAGCTCTGCCCACATGGTGTCCCGGTTCCTCCTTCCATCCATCCTGTCTGAGTTCACCGCACTGGTCACCTCAATGGCTGGAGACACCAGTGTCCGCATCTTTGAGCAGCATTTGTGAGTGTAGATCCTATAGAATTGAAGGGAACTCCCCTAGACTTCCTAAAAGCTGGGCCTACAGGAAGCCAAACCTGAGGAAGCTGAGCTAGGAGAGGTGGAAACAAGGCCCAGGGAGGTGAAGGCTAGGCCAGGGAGTGGTGTCATGGATGGCCTTTCTGTCTGTCCTCCCTTTCAATAGGGGTTCAGAGCCAGAGATCTTCGGCCCTTGTTCCCCTGGGCAACTGGGCCCCTCTCCCCGCCCTGCAGCTGAGCGGCATCTGCTGCTTCTGGGAAGGAACTTCTTGCAGTGGAGGAGACCAACACAGCAGGGTGAGGGCATGGCCCGGGGGGGCGGGGGGCGGGTAGGCTAAGAGTAACTGGTGGGGTCTCCAACCTTGCAGAGGGGAGGGTGGGATCAAGGGGGATCTGTTCCCAGGCCCCTATTGTGCCCCTCCCCCACCCTGTAGCTGCCAAAGCCATGCAGCGCTTCGAGCCAGGAGGTGATGGGAGCTCAGGGCGAAATGCTCCCCGGCAGAGGCTCTTGCTACTAGAGGTTGTGGACAAGAAGGTAAATATGGGGCCAGGGACTGGGTGGGAAGAGGGGTTCCGTGATCTCACTGACCCTGACCCCCGACCTCCAGCTACAGCTGCTGACCTACAACTGGGCTCCAGACCTGGGGGCAGCATTGGGCCGAGCGCTGGTTCGCCTGGTGCAGTGGCAGAATGCACGAGCCCATCTCATCTTCTGCCTACTCAGCCAGAAGCTTGGCCTCTTCCATCATTATGGCCAGTTGGACTTCCCCGTGCGAGATGAAAAGGTGCCTGCTGCTCTGGTTCTTCCTATAGTTTTGGCTACTGAGGGGTCAGTTAAAGGAAAAACCAGCTCAGAAGCCAGAAAGATGGGACAGACTGAGGGCAGAGGTAGTGGGGAGGGAGAGTCTGAGAGAGGAAGCCCTGGGATGAGAGAGAGGGTCCGAGGGCAAAGGCTATGAACCCATTGCAATGCTCCATCTCTCAGGAGCCAAACCCATTCCTGCTGCCGACCATGGAAGTGGAGACCCTCATCCGGAGTGCAAGTCCCCCGCTGAGCCGTGAGCAGGGCCGACTGAGTGGGTCCTCTCGTGGTGGGGGTCCTCTTCCCCTGGACACATTCCCCTTTGACGAGGCCCTAAGGGATATCACGGCTGCCCGCCCCAGCTCCGTACTTGGTCCTGTGCCCAGACCTCCTGATCCTGTCACCTACCATGGACAACAGTTCCTAGAGATCAAGATGGCAGAGCGCAGAGGTGAGGGTACTGGGCCAGGCAGCAGGGACAGGAAATCTGTGGAGTCTGGGAGGAAGGGAGTGACAATGCCTGGGGCTACTACTAATGCCCTCAACCCTCAGAGCTGGAGCGCCAGATGAAGATGGAAAACCTGTTTGTAACCTGGCAGCAGCGTTCTACCCCAGCCACCATGCCCATCAGTGTGAGTGACCCCAGCTTGCATCTTCCTTGAGTATCTGTGATCCTGCCCCGTCACTGCTCCATGCTCACTGCCCTGTTTCCCCAGGCTGGAGAGCTGGAGACCCTGAAGCAGTCATCCCGCCTGGTGCATTACTGTG
GTTTTGTCCATTTGCTTGCTCTTAGTGCTCTGTGGCTGTTCTTTCCCCAGCATCCACTCCCACCACAGGGTGGCCTCCCTGACTTGGACATCTACTTGTATAACAAGCCTGGTGGACAGGGCACTGGGGGCAAAGGTACGGTGCAGGGCACGGGCCTGTGGCACCACCAGGTGAGGGAAAGCCTTTTGTCATCCTATTGCTAAGAGGACATTTCCCAGGCTTGCAGCTGAGTGGAGGGTCGTGGGAGGGGTGGTCTGCAAGTCCCAGAGCTGAGCCTTCCTATGGATTTCTACCCAGGGGTTGCCTGCATCACTCTAGCCTTTGTGGATGAAGGAGGGGCCCCCTTGTCACTGGCGTTGTGGCCCCCCTCCTCTCCGGGGCCCCCAGACCCACTGCGAGAGGAGGAATTTGAGCAACTGACCCAGGTCATCCGCTGCCCGGTTGTTGTGGACAGTTCTTCAGGTGGGACAGCTTGGTCAGAGGATGAGGTGTTCAGTTATTGCTGTGGGAGGTAAGGGTGGTGAGTAGAGTGGGATCTAGGGACACCCTCAAGTGTCCCTGTTCTCCTTCCAGCTCAGAATGGGGCCCCACGGCTTCGATTGGATGTGTGGGAAAAGGGGAACATTAGTATTGTGCAGCTGGAGGAGAAACTCCGAGGAGCAGCTCGCCAGGCCCTGGCCGATGCCATCATCGAGCTTCAGCTGCTGCCAGCTTCACTATGTACAGAGGACACACCCACAGGTATGCAAGTCAAGAGGTCCCTGGGGTCCAGAGAATGTCACAGATCCAAGCAGGACAGTGTGGCAGGTGAGCGTGCAAAGGTGGGGTTTAGGGGAAGCATGTCAGAGAACTACTACATCAGAACCACTTATTCACAGTTGTCCGTGAGCTTGTCTGGGCATCATCCAGGTGCTACACTGGCAGCAGTGAACGGATGCAGCTGCTCACCCACTTAGAGAGGGCTATTGCATCAGAGGCTCACTTCACACAAACACATGCAGCAGCACACTATCAGTTGTATATACTGTCATTCACTGACAGGTAGAATAGGTGGCAAGTCACTGTCATACCAGTCTTGAGGTTCAGTTTTCTAGAATGGGGATTGATGATCAGTGATGGGTGTCTGTAATGTCTGATGTCCACAGGAAGTCTCAGGAACGGATCGTTGGAAACTAAGAGCTCTGCAGGCCGAGCTAGCACCTTTCCCCCTGCCCCTGTCCCTGGGGAGCCTGTGACTCCACCCAGCAAAGCGGGCCGGCGTAGCTTCTGGGATATGCTGGTAATGGAAGAAGTGGTGAAGTGGGCATCTACCTTTCTGCCTGCCTCCTAGCTCCTCCCACACTCCCTCCTGCTTCCCAGTCCCCCATAGGCCTTGCCACAGTGTCCTTTCATATAAAACTGCTCTGTCCTGCCAGACACCATGGCGTGTACCTTTAGTCCCAGCTCCTCAGGAGGATGAAATGGGAGGATTTTGCTTCAGGCCAAGAGTTCAAGGCTGTAGTACGTTGTGATCATGCCTGTTAATGCACTCCAGCCTGGGCAACACACAAACACTCTGTCTCAAAAAAGCAAAACAAAAACTGCTCTGTCTTTTGGACTGGAGTTTGTAGAATGTGGCAGTTCTCACTGATGTAGAGGGAGCCTTAACTTACTATGTGCCTTCACTTCCATTTTTCTTGTCGGATCCTCACAACAGCTTGCAAGATAAGTAGAGCTTTTACAGTGAGGAAGGTGAGGCTCAGGAAAGTTAGGTAACCTGCCCAAGGCTCCTTAGCCAGCCCCTGGGGAAGCCAGGGTCTGAACCCAGACCTCTGAATCCTCCTAGCTCACTGCTGTTCCATAGTGCCCCCATCCCACACCTTTCCTCTTCCCAGTAGCCCTTCCTCATTCACTGCATTGCCCCCAGAGTAAAACAGAATGTGGGGATTTGGGTTCCCCCAAAACAACTGATGACATTGTCCTGGATCGGCCAGAAGACACTCGGGGCCGGAGGCGTCACAAAACCGAGAGTGTTCGGACTCCTGGTGGAGCTGAGCGGGCGCCAGGCTCAAGATTCTGGAGCCCAGAGACAAAAGTATGTGTGTGGTGGTGGTGTGCCCTGGGAGGGTATGGGTGTGAAGTCACAGATGGGCCTTGGTCTGTATAAACATACAAGTGTCATGTATGGACATGAGGCTCTTACTCCCACTGTCTTCAGGCGCCGGACAACACAGCTAGAAGAGGGTGAGGTGGGGACCCTTCATCCTGTGTTTGCCCGTGTTGCTCAGCGCTGGATGGAGTTTATGGTTCAGATTGGTGAGACCCCAGCCTCCCCTCCCATCCCTCAACCCCAGCCTGGTCTCCATCCTGCAGCTCCACAGTGACTCCTCTGCCTCCTAGGTTGTGCCTCAGTGTCCAGAAGCTCTGCCCACATGGTGTCCCGGTTCCTCCTTCCATCCATCCTGTCTGAGTTCACCGCACTGGTCACCTCAATGGCTGGAGACACCAGTGTCCGCATCTTTGAGCAGCATTTGTGAGTGTAGATCCTATAGAATTGAAGGGAACTCCCCTAGACTTCCTAAAAGCTGGGCCTACAGGAAGCCAAACCTGAGGAAGCTGAGCTAGGAGAGGTGGAAACAAGGCCCAGGGAGGTGAAGGCTAGGCCAGGGAGTGGTGTCATGGATGGCCTTTCTGTCTGTCCTCCCTTTCAATAGGGGTTCAGAGCCAGAGATCTTCGGCCCTTGTTCCCCTGGGCAACTGGGCCCCTCTCCCCGCCCTGCAGCTGAGCGGCATCTGCTGCTTCTGGGAAGGAACTTCTTGCAGTGGAGGAGACCAACACAGCAGGGTGAGGGCATGGCCCGGGGGGGCGGGGGGCGGGTAGGCTAAGAGTAACTGGTGGGGTCTCCAACCTTGCAGAGGGGAGGGTGGGATCAAGGGGGATCTGTTCCCAGGCCCCTATTGTGCCCCTCCCCCACCCTGTAGCTGCCAAAGCCATGCAGCGCTTCGAGCCAGGAGGTGATGGGAGCTCAGGGCGAAATGCTCCCCGGCAGAGGCTCTTGCTACTAGAGGTTGTGGACAAGAAGGTAAATATGGGGCCAGGGACTGGGTGGGAAGAGGGGTTCCGTGATCTCACTGACCCTGACCCCCGACCTCCAGCTACAGCTGCTGACCTACAACTGGGCTCCAGACCTGGGGGCAGCATTGGGCCGAGCGCTGGTTCGCCTGGTGCAGTGGCAGAATGCACGAGCCCATCTCATCTTCTGCCTACTCAGCCAGAAGCTTGGCCTCTTCCATCATTATGGCCAGTTGGACTTCCCCGTGCGAGATGAAAAGGTGCCTGCTGCTCTGGTTCTTCCTATAGTTTTGGCTACTGAGGGGTCAGTTAAAGGAAAAACCAGCTCAGAAGCCAGAAAGATGGGACAGACTGAGGGCAGAGGTAGTGGGGAGGGAGAGTCTGAGAGAGGAAGCCCTGGGATGAGAGAGAGGGTCCGAGGGCAAAGGCTATGAACCCATTGCAATGCTCCATCTCTCAGGAGCCAAACCCATTCCTGCTGCCGACCATGGAAGTGGAGACCCTCATCCGGAGTGCAAGTCCCCCGCTGAGCCGTGAGCAGGGCCGACTGAGTGGGTCCTCTCGTGGTGGGGGTCCTCTTCCCCTGGACACATTCCCCTTTGACGAGGCCCTAAGGGATATCACGGCTGCCCGCCCCAGCTCCGTACTTGGTCCTGTGCCCAGACCTCCTGATCCTGTCACCTACCATGGACAACAGTTCCTAGAGATCAAGATGGCAGAGCGCAGAGGTGAGGGTACTGGGCCAGGCAGCAGGGACAGGAAATCTGTGGAGTCTGGGAGGAAGGGAGTGACAATGCCTGGGGCTACTACTAATGCCCTCAACCCTCAGAGCTGGAGCGCCAGATGAAGATGGAAAACCTGTTTGTAACCTGGCAGCAGCGTTCTACCCCAGCCACCATGCCCATCAGTGTGAGTGACCCCAGCTTGCATCTTCCTTGAGTATCTGTGATCCTGCCCCGTCACTGCTCCATGCTCACTGCCCTGTTTCCCCAGGCTGGAGAGCTGGAGACCCTGAAGCAGTCATCCCGCCTGGTGCATTACTGT
pathogenic
7,870
Variant on chromosome 1, at position 43442626, affecting SZT2 (SZT2 subunit of KICSTOR complex): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
benign
GATATGCTGGTAATGGAAGAAGTGGTGAAGTGGGCATCTACCTTTCTGCCTGCCTCCTAGCTCCTCCCACACTCCCTCCTGCTTCCCAGTCCCCCATAGGCCTTGCCACAGTGTCCTTTCATATAAAACTGCTCTGTCCTGCCAGACACCATGGCGTGTACCTTTAGTCCCAGCTCCTCAGGAGGATGAAATGGGAGGATTTTGCTTCAGGCCAAGAGTTCAAGGCTGTAGTACGTTGTGATCATGCCTGTTAATGCACTCCAGCCTGGGCAACACACAAACACTCTGTCTCAAAAAAGCAAAACAAAAACTGCTCTGTCTTTTGGACTGGAGTTTGTAGAATGTGGCAGTTCTCACTGATGTAGAGGGAGCCTTAACTTACTATGTGCCTTCACTTCCATTTTTCTTGTCGGATCCTCACAACAGCTTGCAAGATAAGTAGAGCTTTTACAGTGAGGAAGGTGAGGCTCAGGAAAGTTAGGTAACCTGCCCAAGGCTCCTTAGCCAGCCCCTGGGGAAGCCAGGGTCTGAACCCAGACCTCTGAATCCTCCTAGCTCACTGCTGTTCCATAGTGCCCCCATCCCACACCTTTCCTCTTCCCAGTAGCCCTTCCTCATTCACTGCATTGCCCCCAGAGTAAAACAGAATGTGGGGATTTGGGTTCCCCCAAAACAACTGATGACATTGTCCTGGATCGGCCAGAAGACACTCGGGGCCGGAGGCGTCACAAAACCGAGAGTGTTCGGACTCCTGGTGGAGCTGAGCGGGCGCCAGGCTCAGATTCTGGAGCCCAGAGACAAAAGTATGTGTGTGGTGGTGGTGTGCCCTGGGAGGGTATGGGTGTGAAGTCACAGATGGGCCTTGGTCTGTATAAACATACAAGTGTCATGTATGGACATGAGGCTCTTACTCCCACTGTCTTCAGGCGCCGGACAACACAGCTAGAAGAGGGTGAGGTGGGGACCCTTCATCCTGTGTTTGCCCGTGTTGCTCAGCGCTGGATGGAGTTTATGGTTCAGATTGGTGAGACCCCAGCCTCCCCTCCCATCCCTCAACCCCAGCCTGGTCTCCATCCTGCAGCTCCACAGTGACTCCTCTGCCTCCTAGGTTGTGCCTCAGTGTCCAGAAGCTCTGCCCACATGGTGTCCCGGTTCCTCCTTCCATCCATCCTGTCTGAGTTCACCGCACTGGTCACCTCAATGGCTGGAGACACCAGTGTCCGCATCTTTGAGCAGCATTTGTGAGTGTAGATCCTATAGAATTGAAGGGAACTCCCCTAGACTTCCTAAAAGCTGGGCCTACAGGAAGCCAAACCTGAGGAAGCTGAGCTAGGAGAGGTGGAAACAAGGCCCAGGGAGGTGAAGGCTAGGCCAGGGAGTGGTGTCATGGATGGCCTTTCTGTCTGTCCTCCCTTTCAATAGGGGTTCAGAGCCAGAGATCTTCGGCCCTTGTTCCCCTGGGCAACTGGGCCCCTCTCCCCGCCCTGCAGCTGAGCGGCATCTGCTGCTTCTGGGAAGGAACTTCTTGCAGTGGAGGAGACCAACACAGCAGGGTGAGGGCATGGCCCGGGGGGGCGGGGGGCGGGTAGGCTAAGAGTAACTGGTGGGGTCTCCAACCTTGCAGAGGGGAGGGTGGGATCAAGGGGGATCTGTTCCCAGGCCCCTATTGTGCCCCTCCCCCACCCTGTAGCTGCCAAAGCCATGCAGCGCTTCGAGCCAGGAGGTGATGGGAGCTCAGGGCGAAATGCTCCCCGGCAGAGGCTCTTGCTACTAGAGGTTGTGGACAAGAAGGTAAATATGGGGCCAGGGACTGGGTGGGAAGAGGGGTTCCGTGATCTCACTGACCCTGACCCCCGACCTCCAGCTACAGCTGCTGACCTACAACTGGGCTCCAGACCTGGGGGCAGCATTGGGCCGAGCGCTGGTTCGCCTGGTGCAGTGGCAGAATGCACGAGCCCATCTCATCTTCTGCCTACTCAGCCAGAAGCTTGGCCTCTTCCATCATTATGGCCAGTTGGACTTCCCCGTGCGAGATGAAAAGGTGCCTGCTGCTCTGGTTCTTCCTATAGTTTTGGCTACTGAGGGGTCAGTTAAAGGAAAAACCAGCTCAGAAGCCAGAAAGATGGGACAGACTGAGGGCAGAGGTAGTGGGGAGGGAGAGTCTGAGAGAGGAAGCCCTGGGATGAGAGAGAGGGTCCGAGGGCAAAGGCTATGAACCCATTGCAATGCTCCATCTCTCAGGAGCCAAACCCATTCCTGCTGCCGACCATGGAAGTGGAGACCCTCATCCGGAGTGCAAGTCCCCCGCTGAGCCGTGAGCAGGGCCGACTGAGTGGGTCCTCTCGTGGTGGGGGTCCTCTTCCCCTGGACACATTCCCCTTTGACGAGGCCCTAAGGGATATCACGGCTGCCCGCCCCAGCTCCGTACTTGGTCCTGTGCCCAGACCTCCTGATCCTGTCACCTACCATGGACAACAGTTCCTAGAGATCAAGATGGCAGAGCGCAGAGGTGAGGGTACTGGGCCAGGCAGCAGGGACAGGAAATCTGTGGAGTCTGGGAGGAAGGGAGTGACAATGCCTGGGGCTACTACTAATGCCCTCAACCCTCAGAGCTGGAGCGCCAGATGAAGATGGAAAACCTGTTTGTAACCTGGCAGCAGCGTTCTACCCCAGCCACCATGCCCATCAGTGTGAGTGACCCCAGCTTGCATCTTCCTTGAGTATCTGTGATCCTGCCCCGTCACTGCTCCATGCTCACTGCCCTGTTTCCCCAGGCTGGAGAGCTGGAGACCCTGAAGCAGTCATCCCGCCTGGTGCATTACTGTGCAACAGCCATGCTCTTCGACCCAGCTGCCTGGCTGCATGGGCCCCCAGAGACCTCTGGACCCCCTGACGGGCAGGTAAGGCTGACTCCCAGACTTCTAGCAGACCTTTGCTTACCCCACAGTGACCCCCCTCCTCCATCCCCAGCAGGATGGTTGACAGTGGGGAGAGTCTTCCTTGATCTTTACTCTCATAGCGGCGCCATCGCCCTGAGTCAGGGTCTGGGAGCCGAGAGGCCCCCACAAGCTGTGAATCCTTGGATGTGTCGCCCCCGGGAGCCCGTGAGGAGCCTTGGCTGAAGGAGCTGAGCTTGGCTTTCCTGCAGCAATATGTGCAGTATCTGCAGAGCATAGGTTTTGTGCTGGTACCACTGCGGCCCCCCTCACCCGCCCGCAGGTGAGCCCGTCCCTGTTTTCCCTTCTGTCTTCTCCTCCTGCACTGCAAGTGAGGCCCCACAGGCCCTTCCTCTCTTTACAAGGTCCTATGTTGACAATTTGGGCTGGGCCTGTGCATGTTTATCCCACCAGGCTTGCACTCATGTGAGGGTCTCAGATACTTTCACACAGCCCTCATGCGTGTCCTGCAGACCTTGTATGCTTTATGGAACTCATGATGACACTCATACAAAACTGTGTCCATTTTCACAAAGCTCATGCCCACACACATCTTGTACACTTACACACTTGCATACATCCCCACATGTGAATTTTTTTGGAGATGGAATCTCACTGTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGCAATTCTTGTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCACGCCACCCTGCTTGGCTAATTTTTTGTATTTTAGTAGAGATGGGGTATCACCATGTTGCCTAGACTGGTCTTGAACTCCTCAACTCAGGTAGTCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTATAGGTGTGAGCCATCACGCCCGGCCTGCACATGTGAATCTTGTACATGCTCCTAAGCCTCTGGATCTAGGACTTAATGATTCCTGTCCTTATCATCCCACTGACCTCTCCTGAGATTTGATGTAGTTCTCGGCCCAGGGAAGTCCTTTTCTCACCAAGGACCTCTGTGCTAGGCCTACTTGCATCACTGTCCTTGGCCTGTTCTTGGTCATGTTCACCCACTGGCCAGTACTGACAGGTCTGAGTCTTGGGAAGTAGGCAGCCCGTCTGTTGCCACCTCCATCTCCCCTGAGCTCAGGGACA
GATATGCTGGTAATGGAAGAAGTGGTGAAGTGGGCATCTACCTTTCTGCCTGCCTCCTAGCTCCTCCCACACTCCCTCCTGCTTCCCAGTCCCCCATAGGCCTTGCCACAGTGTCCTTTCATATAAAACTGCTCTGTCCTGCCAGACACCATGGCGTGTACCTTTAGTCCCAGCTCCTCAGGAGGATGAAATGGGAGGATTTTGCTTCAGGCCAAGAGTTCAAGGCTGTAGTACGTTGTGATCATGCCTGTTAATGCACTCCAGCCTGGGCAACACACAAACACTCTGTCTCAAAAAAGCAAAACAAAAACTGCTCTGTCTTTTGGACTGGAGTTTGTAGAATGTGGCAGTTCTCACTGATGTAGAGGGAGCCTTAACTTACTATGTGCCTTCACTTCCATTTTTCTTGTCGGATCCTCACAACAGCTTGCAAGATAAGTAGAGCTTTTACAGTGAGGAAGGTGAGGCTCAGGAAAGTTAGGTAACCTGCCCAAGGCTCCTTAGCCAGCCCCTGGGGAAGCCAGGGTCTGAACCCAGACCTCTGAATCCTCCTAGCTCACTGCTGTTCCATAGTGCCCCCATCCCACACCTTTCCTCTTCCCAGTAGCCCTTCCTCATTCACTGCATTGCCCCCAGAGTAAAACAGAATGTGGGGATTTGGGTTCCCCCAAAACAACTGATGACATTGTCCTGGATCGGCCAGAAGACACTCGGGGCCGGAGGCGTCACAAAACCGAGAGTGTTCGGACTCCTGGTGGAGCTGAGCGGGCGCCAGGCTCAGATTCTGGAGCCCAGAGACAAAAGTATGTGTGTGGTGGTGGTGTGCCCTGGGAGGGTATGGGTGTGAAGTCACAGATGGGCCTTGGTCTGTATAAACATACAAGTGTCATGTATGGACATGAGGCTCTTACTCCCACTGTCTTCAGGCGCCGGACAACACAGCTAGAAGAGGGTGAGGTGGGGACCCTTCATCCTGTGTTTGCCCGTGTTGCTCAGCGCTGGATGGAGTTTATGGTTCAGATTGGTGAGACCCCAGCCTCCCCTCCCATCCCTCAACCCCAGCCTGGTCTCCATCCTGCAGCTCCACAGTGACTCCTCTGCCTCCTAGGTTGTGCCTCAGTGTCCAGAAGCTCTGCCCACATGGTGTCCCGGTTCCTCCTTCCATCCATCCTGTCTGAGTTCACCGCACTGGTCACCTCAATGGCTGGAGACACCAGTGTCCGCATCTTTGAGCAGCATTTGTGAGTGTAGATCCTATAGAATTGAAGGGAACTCCCCTAGACTTCCTAAAAGCTGGGCCTACAGGAAGCCAAACCTGAGGAAGCTGAGCTAGGAGAGGTGGAAACAAGGCCCAGGGAGGTGAAGGCTAGGCCAGGGAGTGGTGTCATGGATGGCCTTTCTGTCTGTCCTCCCTTTCAATAGGGGTTCAGAGCCAGAGATCTTCGGCCCTTGTTCCCCTGGGCAACTGGGCCCCTCTCCCCGCCCTGCAGCTGAGCGGCATCTGCTGCTTCTGGGAAGGAACTTCTTGCAGTGGAGGAGACCAACACAGCAGGGTGAGGGCATGGCCCGGGGGGGCGGGGGGCGGGTAGGCTAAGAGTAACTGGTGGGGTCTCCAACCTTGCAGAGGGGAGGGTGGGATCAAGGGGGATCTGTTCCCAGGCCCCTATTGTGCCCCTCCCCCACCCTGTAGCTGCCAAAGCCATGCAGCGCTTCGAGCCAGGAGGTGATGGGAGCTCAGGGCGAAATGCTCCCCGGCAGAGGCTCTTGCTACTAGAGGTTGTGGACAAGAAGGTAAATATGGGGCCAGGGACTGGGTGGGAAGAGGGGTTCCGTGATCTCACTGACCCTGACCCCCGACCTCCAGCTACAGCTGCTGACCTACAACTGGGCTCCAGACCTGGGGGCAGCATTGGGCCGAGCGCTGGTTCGCCTGGTGCAGTGGCAGAATGCACGAGCCCATCTCATCTTCTGCCTACTCAGCCAGAAGCTTGGCCTCTTCCATCATTATGGCCAGTTGGACTTCCCCGTGCGAGATGAAAAGGTGCCTGAGGCTCTGGTTCTTCCTATAGTTTTGGCTACTGAGGGGTCAGTTAAAGGAAAAACCAGCTCAGAAGCCAGAAAGATGGGACAGACTGAGGGCAGAGGTAGTGGGGAGGGAGAGTCTGAGAGAGGAAGCCCTGGGATGAGAGAGAGGGTCCGAGGGCAAAGGCTATGAACCCATTGCAATGCTCCATCTCTCAGGAGCCAAACCCATTCCTGCTGCCGACCATGGAAGTGGAGACCCTCATCCGGAGTGCAAGTCCCCCGCTGAGCCGTGAGCAGGGCCGACTGAGTGGGTCCTCTCGTGGTGGGGGTCCTCTTCCCCTGGACACATTCCCCTTTGACGAGGCCCTAAGGGATATCACGGCTGCCCGCCCCAGCTCCGTACTTGGTCCTGTGCCCAGACCTCCTGATCCTGTCACCTACCATGGACAACAGTTCCTAGAGATCAAGATGGCAGAGCGCAGAGGTGAGGGTACTGGGCCAGGCAGCAGGGACAGGAAATCTGTGGAGTCTGGGAGGAAGGGAGTGACAATGCCTGGGGCTACTACTAATGCCCTCAACCCTCAGAGCTGGAGCGCCAGATGAAGATGGAAAACCTGTTTGTAACCTGGCAGCAGCGTTCTACCCCAGCCACCATGCCCATCAGTGTGAGTGACCCCAGCTTGCATCTTCCTTGAGTATCTGTGATCCTGCCCCGTCACTGCTCCATGCTCACTGCCCTGTTTCCCCAGGCTGGAGAGCTGGAGACCCTGAAGCAGTCATCCCGCCTGGTGCATTACTGTGCAACAGCCATGCTCTTCGACCCAGCTGCCTGGCTGCATGGGCCCCCAGAGACCTCTGGACCCCCTGACGGGCAGGTAAGGCTGACTCCCAGACTTCTAGCAGACCTTTGCTTACCCCACAGTGACCCCCCTCCTCCATCCCCAGCAGGATGGTTGACAGTGGGGAGAGTCTTCCTTGATCTTTACTCTCATAGCGGCGCCATCGCCCTGAGTCAGGGTCTGGGAGCCGAGAGGCCCCCACAAGCTGTGAATCCTTGGATGTGTCGCCCCCGGGAGCCCGTGAGGAGCCTTGGCTGAAGGAGCTGAGCTTGGCTTTCCTGCAGCAATATGTGCAGTATCTGCAGAGCATAGGTTTTGTGCTGGTACCACTGCGGCCCCCCTCACCCGCCCGCAGGTGAGCCCGTCCCTGTTTTCCCTTCTGTCTTCTCCTCCTGCACTGCAAGTGAGGCCCCACAGGCCCTTCCTCTCTTTACAAGGTCCTATGTTGACAATTTGGGCTGGGCCTGTGCATGTTTATCCCACCAGGCTTGCACTCATGTGAGGGTCTCAGATACTTTCACACAGCCCTCATGCGTGTCCTGCAGACCTTGTATGCTTTATGGAACTCATGATGACACTCATACAAAACTGTGTCCATTTTCACAAAGCTCATGCCCACACACATCTTGTACACTTACACACTTGCATACATCCCCACATGTGAATTTTTTTGGAGATGGAATCTCACTGTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGCAATTCTTGTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCACGCCACCCTGCTTGGCTAATTTTTTGTATTTTAGTAGAGATGGGGTATCACCATGTTGCCTAGACTGGTCTTGAACTCCTCAACTCAGGTAGTCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTATAGGTGTGAGCCATCACGCCCGGCCTGCACATGTGAATCTTGTACATGCTCCTAAGCCTCTGGATCTAGGACTTAATGATTCCTGTCCTTATCATCCCACTGACCTCTCCTGAGATTTGATGTAGTTCTCGGCCCAGGGAAGTCCTTTTCTCACCAAGGACCTCTGTGCTAGGCCTACTTGCATCACTGTCCTTGGCCTGTTCTTGGTCATGTTCACCCACTGGCCAGTACTGACAGGTCTGAGTCTTGGGAAGTAGGCAGCCCGTCTGTTGCCACCTCCATCTCCCCTGAGCTCAGGGACA
benign
7,893
Assess the variant on chromosome 1, position 43443776, impacting SZT2 (SZT2 subunit of KICSTOR complex): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Developmental_and_epileptic_encephalopathy,_18', 'Inborn_genetic_diseases']
GGTTCCTCCTTCCATCCATCCTGTCTGAGTTCACCGCACTGGTCACCTCAATGGCTGGAGACACCAGTGTCCGCATCTTTGAGCAGCATTTGTGAGTGTAGATCCTATAGAATTGAAGGGAACTCCCCTAGACTTCCTAAAAGCTGGGCCTACAGGAAGCCAAACCTGAGGAAGCTGAGCTAGGAGAGGTGGAAACAAGGCCCAGGGAGGTGAAGGCTAGGCCAGGGAGTGGTGTCATGGATGGCCTTTCTGTCTGTCCTCCCTTTCAATAGGGGTTCAGAGCCAGAGATCTTCGGCCCTTGTTCCCCTGGGCAACTGGGCCCCTCTCCCCGCCCTGCAGCTGAGCGGCATCTGCTGCTTCTGGGAAGGAACTTCTTGCAGTGGAGGAGACCAACACAGCAGGGTGAGGGCATGGCCCGGGGGGGCGGGGGGCGGGTAGGCTAAGAGTAACTGGTGGGGTCTCCAACCTTGCAGAGGGGAGGGTGGGATCAAGGGGGATCTGTTCCCAGGCCCCTATTGTGCCCCTCCCCCACCCTGTAGCTGCCAAAGCCATGCAGCGCTTCGAGCCAGGAGGTGATGGGAGCTCAGGGCGAAATGCTCCCCGGCAGAGGCTCTTGCTACTAGAGGTTGTGGACAAGAAGGTAAATATGGGGCCAGGGACTGGGTGGGAAGAGGGGTTCCGTGATCTCACTGACCCTGACCCCCGACCTCCAGCTACAGCTGCTGACCTACAACTGGGCTCCAGACCTGGGGGCAGCATTGGGCCGAGCGCTGGTTCGCCTGGTGCAGTGGCAGAATGCACGAGCCCATCTCATCTTCTGCCTACTCAGCCAGAAGCTTGGCCTCTTCCATCATTATGGCCAGTTGGACTTCCCCGTGCGAGATGAAAAGGTGCCTGCTGCTCTGGTTCTTCCTATAGTTTTGGCTACTGAGGGGTCAGTTAAAGGAAAAACCAGCTCAGAAGCCAGAAAGATGGGACAGACTGAGGGCAGAGGTAGTGGGGAGGGAGAGTCTGAGAGAGGAAGCCCTGGGATGAGAGAGAGGGTCCGAGGGCAAAGGCTATGAACCCATTGCAATGCTCCATCTCTCAGGAGCCAAACCCATTCCTGCTGCCGACCATGGAAGTGGAGACCCTCATCCGGAGTGCAAGTCCCCCGCTGAGCCGTGAGCAGGGCCGACTGAGTGGGTCCTCTCGTGGTGGGGGTCCTCTTCCCCTGGACACATTCCCCTTTGACGAGGCCCTAAGGGATATCACGGCTGCCCGCCCCAGCTCCGTACTTGGTCCTGTGCCCAGACCTCCTGATCCTGTCACCTACCATGGACAACAGTTCCTAGAGATCAAGATGGCAGAGCGCAGAGGTGAGGGTACTGGGCCAGGCAGCAGGGACAGGAAATCTGTGGAGTCTGGGAGGAAGGGAGTGACAATGCCTGGGGCTACTACTAATGCCCTCAACCCTCAGAGCTGGAGCGCCAGATGAAGATGGAAAACCTGTTTGTAACCTGGCAGCAGCGTTCTACCCCAGCCACCATGCCCATCAGTGTGAGTGACCCCAGCTTGCATCTTCCTTGAGTATCTGTGATCCTGCCCCGTCACTGCTCCATGCTCACTGCCCTGTTTCCCCAGGCTGGAGAGCTGGAGACCCTGAAGCAGTCATCCCGCCTGGTGCATTACTGTGCAACAGCCATGCTCTTCGACCCAGCTGCCTGGCTGCATGGGCCCCCAGAGACCTCTGGACCCCCTGACGGGCAGGTAAGGCTGACTCCCAGACTTCTAGCAGACCTTTGCTTACCCCACAGTGACCCCCCTCCTCCATCCCCAGCAGGATGGTTGACAGTGGGGAGAGTCTTCCTTGATCTTTACTCTCATAGCGGCGCCATCGCCCTGAGTCAGGGTCTGGGAGCCGAGAGGCCCCCACAAGCTGTGAATCCTTGGATGTGTCGCCCCCGGGAGCCCGTGAGGAGCCTTGGCTGAAGGAGCTGAGCTTGGCTTTCCTGCAGCAATATGTGCAGTATCTGCAGAGCATAGGTTTTGTGCTGGTACCACTGCGGCCCCCCTCACCCGCCCGCAGGTGAGCCCGTCCCTGTTTTCCCTTCTGTCTTCTCCTCCTGCACTGCAAGTGAGGCCCCACAGGCCCTTCCTCTCTTTACAAGGTCCTATGTTGACAATTTGGGCTGGGCCTGTGCATGTTTATCCCACCAGGCTTGCACTCATGTGAGGGTCTCAGATACTTTCACACAGCCCTCATGCGTGTCCTGCAGACCTTGTATGCTTTATGGAACTCATGATGACACTCATACAAAACTGTGTCCATTTTCACAAAGCTCATGCCCACACACATCTTGTACACTTACACACTTGCATACATCCCCACATGTGAATTTTTTTGGAGATGGAATCTCACTGTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGCAATTCTTGTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCACGCCACCCTGCTTGGCTAATTTTTTGTATTTTAGTAGAGATGGGGTATCACCATGTTGCCTAGACTGGTCTTGAACTCCTCAACTCAGGTAGTCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTATAGGTGTGAGCCATCACGCCCGGCCTGCACATGTGAATCTTGTACATGCTCCTAAGCCTCTGGATCTAGGACTTAATGATTCCTGTCCTTATCATCCCACTGACCTCTCCTGAGATTTGATGTAGTTCTCGGCCCAGGGAAGTCCTTTTCTCACCAAGGACCTCTGTGCTAGGCCTACTTGCATCACTGTCCTTGGCCTGTTCTTGGTCATGTTCACCCACTGGCCAGTACTGACAGGTCTGAGTCTTGGGAAGTAGGCAGCCCGTCTGTTGCCACCTCCATCTCCCCTGAGCTCAGGGACAACTCTGCAGCCACCTTTTCATCCACTGTCAAATCTCAGATTCCCGTGTTTGTGGCCCCTGCTCTATGTTCCTCTCCAGATTCTGTGTTCTCTGCCCTTTCCCAGTGGCTGTATGCGAAAAATGAGCTGTTCACCTTACACATAGCTACTTTCGTGTCTCCAGATTTGTGAGTTTATCAAGGCATGTTCTCCCTCCTCTCTGTTTTCAGTTAGAACCTTTTCAAGCCAGTAGTCCAGAAATGCCAGTTCCAACTCTCTCATGTTTCTGTGACCAGCTCCCCACTCCCCAGGTTTCCCTCTCTTCCAGGCATTAGGAAGAGAAGGCGTGCCTGCCCCTCCTGTGATCCCATCTCAGAGGCCAGGCTGGCCCCTCCTACCCTGGGGAGGAGCTGCCCAGCTTGCTATCTTGACAGCCAGTTCCCAGCTCTAGGAGCTTCTCTAAAGGACTTTAGTTTGCACACTTGCCATAAGTTATGCTCTTTCCCCCAAATCTGAATTCCTTTAGACACTGGGTTAAAAAAAAAAATGTTTCTACAGCAAAATTTAAAGCCAGGTCTTCCCTTCCCACCAATCTTTAACAATCACCAATCACTAAGTCTTGTCCCAGTTTCCTTGAGGTTTAAATGGGACATTTTTTCCACCAGAGGTTTTGACCCCCAGCAAGAATTCTGGCAGTTTATAGCCCCTTGGCGTGAGTGGGTCCCCCCAACCCCTTCTGTTCTGTCCCTTCTTCCCAGTCCCTCCCCTGCTTCCCTTCTCCCCTATCCTCTGCACTAAACTGTAACGAGCAGTAGGCCTCTGAAAGCCTGGAACTGCCATCCCCCCCAATCAAAAGACAGCAGCTTTGCCCTTTCAGAGGAAGGTACCTAACCAGGCATCAAGCATCTCCTTGAATTTTCCTAATCAAATTGTAGACAGGCATCACCTTCCCCCTTCTCTTTCCTGCCCAGCACACACCCTCTCAGTAGCAGAGGCTTAGTCTCCACCTCCCCACTGAGCACTGTTTTTGCCTCCCTTGAAGCAGCAGCTGCTATGGAGAGAGCCCAGCCTTGCAGTCTAGACCTGGACTCCAAGCCCAGCCTTGCCACTCACAGTGGCAGCTTTGTGGGTCTGTTTCCTCCCTTGCAAAATGATTCCATATAAAACAGATT
GGTTCCTCCTTCCATCCATCCTGTCTGAGTTCACCGCACTGGTCACCTCAATGGCTGGAGACACCAGTGTCCGCATCTTTGAGCAGCATTTGTGAGTGTAGATCCTATAGAATTGAAGGGAACTCCCCTAGACTTCCTAAAAGCTGGGCCTACAGGAAGCCAAACCTGAGGAAGCTGAGCTAGGAGAGGTGGAAACAAGGCCCAGGGAGGTGAAGGCTAGGCCAGGGAGTGGTGTCATGGATGGCCTTTCTGTCTGTCCTCCCTTTCAATAGGGGTTCAGAGCCAGAGATCTTCGGCCCTTGTTCCCCTGGGCAACTGGGCCCCTCTCCCCGCCCTGCAGCTGAGCGGCATCTGCTGCTTCTGGGAAGGAACTTCTTGCAGTGGAGGAGACCAACACAGCAGGGTGAGGGCATGGCCCGGGGGGGCGGGGGGCGGGTAGGCTAAGAGTAACTGGTGGGGTCTCCAACCTTGCAGAGGGGAGGGTGGGATCAAGGGGGATCTGTTCCCAGGCCCCTATTGTGCCCCTCCCCCACCCTGTAGCTGCCAAAGCCATGCAGCGCTTCGAGCCAGGAGGTGATGGGAGCTCAGGGCGAAATGCTCCCCGGCAGAGGCTCTTGCTACTAGAGGTTGTGGACAAGAAGGTAAATATGGGGCCAGGGACTGGGTGGGAAGAGGGGTTCCGTGATCTCACTGACCCTGACCCCCGACCTCCAGCTACAGCTGCTGACCTACAACTGGGCTCCAGACCTGGGGGCAGCATTGGGCCGAGCGCTGGTTCGCCTGGTGCAGTGGCAGAATGCACGAGCCCATCTCATCTTCTGCCTACTCAGCCAGAAGCTTGGCCTCTTCCATCATTATGGCCAGTTGGACTTCCCCGTGCGAGATGAAAAGGTGCCTGCTGCTCTGGTTCTTCCTATAGTTTTGGCTACTGAGGGGTCAGTTAAAGGAAAAACCAGCTCAGAAGCCAGAAAGATGGGACAGACTGAGGGCAGAGGTAGTGGGGAGGGAGAGTCTGAGAGAGGAAGCCCTGGGATGAGAGAGAGGGTCCGAGGGCAAAGGCTATGAACCCATTGCAATGCTCCATCTCTCAGGAGCCAAACCCATTCCTGCTGCCGACCATGGAAGTGGAGACCCTCATCCGGAGTGCAAGTCCCCCGCTGAGCCGTGAGCAGGGCCGACTGAGTGGGTCCTCTCGTGGTGGGGGTCCTCTTCCCCTGGACACATTCCCCTTTGACGAGGCCCTAAGGGATATCACGGCTGCCCGCCCCAGCTCCGTACTTGGTCCTGTGCCCAGACCTCCTGATCCTGTCACCTACCATGGACAACAGTTCCTAGAGATCAAGATGGCAGAGCGCAGAGGTGAGGGTACTGGGCCAGGCAGCAGGGACAGGAAATCTGTGGAGTCTGGGAGGAAGGGAGTGACAATGCCTGGGGCTACTACTAATGCCCTCAACCCTCAGAGCTGGAGCGCCAGATGAAGATGGAAAACCTGTTTGTAACCTGGCAGCAGCGTTCTACCCCAGCCACCATGCCCATCAGTGTGAGTGACCCCAGCTTGCATCTTCCTTGAGTATCTGTGATCCTGCCCCGTCACTGCTCCATGCTCACTGCCCTGTTTCCCCAGGCTGGAGAGCTGGAGACCCTGAAGCAGTCATCCCGCCTGGTGCATTACTGTGCAACAGCCATGCTCTTCGACCCAGCTGCCTGGCTGCATGGGCCCCCAGAGACCTCTGGACCCCCTGACGGGCAGGTAAGGCTGACTCCCAGACTTCTAGCAGACCTTTGCTTACCCCACAGTGACCCCCCTCCTCCATCCCCAGCAGGATGGTTGACAGTGGGGAGAGTCTTCCTTGATCTTTACTCTCATAGCGGCGCCATCGCCCTGAGTCAGGGTCTGGGAGCCGAGAGGCCCCCACAAGCTGTGAATCCTTGGATGTGTCGCCCCCGGGAGCCCGTGAGGAGCCTTGGCTGAAGGAGCTGAGCTTGGCTTTCCTGCAGCAATATGTGCAGTATCTGCAGAGCATAGGTTTTGTGCTGGTACCACTGCGGCCCCCTCACCCGCCCGCAGGTGAGCCCGTCCCTGTTTTCCCTTCTGTCTTCTCCTCCTGCACTGCAAGTGAGGCCCCACAGGCCCTTCCTCTCTTTACAAGGTCCTATGTTGACAATTTGGGCTGGGCCTGTGCATGTTTATCCCACCAGGCTTGCACTCATGTGAGGGTCTCAGATACTTTCACACAGCCCTCATGCGTGTCCTGCAGACCTTGTATGCTTTATGGAACTCATGATGACACTCATACAAAACTGTGTCCATTTTCACAAAGCTCATGCCCACACACATCTTGTACACTTACACACTTGCATACATCCCCACATGTGAATTTTTTTGGAGATGGAATCTCACTGTGTCGCCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGCAATTCTTGTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGTGCACGCCACCCTGCTTGGCTAATTTTTTGTATTTTAGTAGAGATGGGGTATCACCATGTTGCCTAGACTGGTCTTGAACTCCTCAACTCAGGTAGTCCGCCCACCTCAGCCTCCCAAAGTGCTAGGATTATAGGTGTGAGCCATCACGCCCGGCCTGCACATGTGAATCTTGTACATGCTCCTAAGCCTCTGGATCTAGGACTTAATGATTCCTGTCCTTATCATCCCACTGACCTCTCCTGAGATTTGATGTAGTTCTCGGCCCAGGGAAGTCCTTTTCTCACCAAGGACCTCTGTGCTAGGCCTACTTGCATCACTGTCCTTGGCCTGTTCTTGGTCATGTTCACCCACTGGCCAGTACTGACAGGTCTGAGTCTTGGGAAGTAGGCAGCCCGTCTGTTGCCACCTCCATCTCCCCTGAGCTCAGGGACAACTCTGCAGCCACCTTTTCATCCACTGTCAAATCTCAGATTCCCGTGTTTGTGGCCCCTGCTCTATGTTCCTCTCCAGATTCTGTGTTCTCTGCCCTTTCCCAGTGGCTGTATGCGAAAAATGAGCTGTTCACCTTACACATAGCTACTTTCGTGTCTCCAGATTTGTGAGTTTATCAAGGCATGTTCTCCCTCCTCTCTGTTTTCAGTTAGAACCTTTTCAAGCCAGTAGTCCAGAAATGCCAGTTCCAACTCTCTCATGTTTCTGTGACCAGCTCCCCACTCCCCAGGTTTCCCTCTCTTCCAGGCATTAGGAAGAGAAGGCGTGCCTGCCCCTCCTGTGATCCCATCTCAGAGGCCAGGCTGGCCCCTCCTACCCTGGGGAGGAGCTGCCCAGCTTGCTATCTTGACAGCCAGTTCCCAGCTCTAGGAGCTTCTCTAAAGGACTTTAGTTTGCACACTTGCCATAAGTTATGCTCTTTCCCCCAAATCTGAATTCCTTTAGACACTGGGTTAAAAAAAAAAATGTTTCTACAGCAAAATTTAAAGCCAGGTCTTCCCTTCCCACCAATCTTTAACAATCACCAATCACTAAGTCTTGTCCCAGTTTCCTTGAGGTTTAAATGGGACATTTTTTCCACCAGAGGTTTTGACCCCCAGCAAGAATTCTGGCAGTTTATAGCCCCTTGGCGTGAGTGGGTCCCCCCAACCCCTTCTGTTCTGTCCCTTCTTCCCAGTCCCTCCCCTGCTTCCCTTCTCCCCTATCCTCTGCACTAAACTGTAACGAGCAGTAGGCCTCTGAAAGCCTGGAACTGCCATCCCCCCCAATCAAAAGACAGCAGCTTTGCCCTTTCAGAGGAAGGTACCTAACCAGGCATCAAGCATCTCCTTGAATTTTCCTAATCAAATTGTAGACAGGCATCACCTTCCCCCTTCTCTTTCCTGCCCAGCACACACCCTCTCAGTAGCAGAGGCTTAGTCTCCACCTCCCCACTGAGCACTGTTTTTGCCTCCCTTGAAGCAGCAGCTGCTATGGAGAGAGCCCAGCCTTGCAGTCTAGACCTGGACTCCAAGCCCAGCCTTGCCACTCACAGTGGCAGCTTTGTGGGTCTGTTTCCTCCCTTGCAAAATGATTCCATATAAAACAGATTN
pathogenic
7,910
Is the genetic variant on chromosome 1, position 45014981, gene UROD (uroporphyrinogen decarboxylase), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic
ATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAGGGACCCTCAGCTTTGACACCAAAATATATAGAGGACATGAAAGCTCAGAGCTAGGTTGCTTAGGATTGGAGCTTTAGACAAGTCGATCATCACCAAAGCAAGAAGTCCTCTGAAACCAAAAGACCCTCTGGCAACTCAAGGTTGCTTTATATTCTTTTCTGAGCATCCCCTTTAATTTTCTCAAGATCTTGGTTATTCCACCCTTCCTGGTGGTACCTGCTTCCCAGGACAAGGCTCTGAGGTGTCTGTAAGCCCTGGGGAAGGGTCTGGTATGGCAAGAAATTCTTTATCTGTCAGTCATTCTGCATCTCCTTAGACCACTAGGCACCCACTGTGCTGTAGGCTGAACCAGCTCCCTGGCCCAGCCAGGGCAATGCAGAAAGGAGAGATGGGTTTCATTTAGTGAGAGAACACAATTTCTGCTTTTAGAAAAATGATCTTTTATGTGATCCATGATTTATTCATAGAAAAGCACTGTGAATTCACACACTTGCTAAAAAAGGGCAACTGTGATACAGAAATGAGAGTGGCTTCTCTCTTTTTTTTAACCAACCCATTGGGCTGAGACGTAGGGGCCCTTGGCTGGACAGTAAGACTTGAGTAGCCACAAATGGCAAATACAACTTCTTGGTCAGTTTGGAGTAAAAAAGGTGACAGTTTGTCGAAGAAAGAAAAAGTAAAGCAGATGGAGAAGTTCTTAGTTCACATTCTAGCTATACCACCCCTTCCCTATCAAACCCCACCCCCAACTCAGGAACTAAGACATGAAACAGTAAACACCAAGACACTGGTTCCAACTGACTTTTCTGAGTGCCCTTGCTACCTCCTATAACAATTCCAGGCTGAGCACAGGGGTCAGGAAGGTAGCAGGAACATGATACACTATGGAGGTCAGCCAGGGCTAAGACAGGACTGCCCACTAGGGCTAGAAATTAGGAAGGGAGAGGCTAAGTGCAGACCAGCCCTAGCCTCCAAGTCAGCGAGCAATGAGACTGTGACAAAAGCCGGCGAGGAAGCTTGAGGTAGAAAGGCAGGGGAAGAAAGCAAGTA
ATGACACATTCCTGCGAGCAGCCTGGGGAGAGGAAACAGACTACACTCCCGTTTGGTGCATGCGCCAGGCAGGCCGTTACTTACCAGGTAAGAGTCAGGGTCTGGAAATCTAGATAAAACTCCGGAGGGAGAAAAGTTTTCGAGGGGCAGGGGAGGGCTCTGGAGGGCCTCAAGGCTGAGCCCTGTCTTCCCTCTGTATGCAGAGTTTAGGGAAACCCGGGCTGCCCAGGACTTTTTCAGCACGTGTCGCTCTCCTGAGGCCTGCTGTGAACTGACTCTGCAGGTGAGGGGTCCACAAAAGAGGGAAAGATTTATGCCTTCAGTCTGCCACCTAGCAACCTGTCTCCTGTTTCCTACAGCCACTGCGTCGCTTCCCTCTGGATGCTGCCATCATTTTCTCCGACATCCTTGTTGTACCCCAGGTACCCACTCAAACCTGATCCTAGAATATAATCCAAGGACGCCTTGAAAATCCTTCTATCAGTCCAGTCAAGGTTTACAATAAGCACTTATCCTAACTGGATCGAGGGAAAAACTAAGGTTGAAAGAAATGGAGTTTGGCAGAGTTTTATTCTCCTTTTCCTTCCTCCTGGAATGAGCTGAACAGAACCTTTCCTCCTGGATTCCATTTTGGGAACCCAGATGTTTTCTCCCCCTCCAGGCACTGGGCATGGAGGTGACCATGGTACCTGGCAAAGGACCCAGCTTCCCAGAGCCATTAAGAGAAGAGCAGGACCTAGAACGCCTACGGGATCCAGAAGTGGTAGCCTCTGAGCTAGGCTATGTGTTCCAAGCCATCACCCTTACCCGACAACGACTGGCTGGACGTGTGCCGCTGATTGGCTTTGCTGGTGCCCCAGTAATGTGGGACAGGGCAGGGACTCGGGGCGCGGGGAGATCACTCTGGAAGGTCTGGGGTAGACAAAAGGAAGGGTCAGTCTGGCTTCTGTGACACCATCTTTCTATCCTTCTCTAGTGGACCCTGATGACATACATGGTTGAGGGTGGTGGCTCAAGCACCATGGCTCAGGCCAAGCGCTGGCTCTATCAGAGACCTCAGGCTAGTCACCAGCTGCTTCGCATCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGGTGGCTGGTGCCCAGGTGAGTCCTGAGAGAGAGAGAAATAGGCTGGGATTTGGTCTGTAAGGACCAGAAGCAAGAGTGTCCTAAACCTGAGAGGGCAGGGGTCTTAATGCCAGGGATGAAAGAACCTTGGCCTCCAGTGATCTAGCGGAGCAGCCAAGCCCATCCTGACACTGACAGTGGGGCTTAATGCTCTAAGTATTCAGACACCAAAGTTAGTGCTGGGATCTGAGGAAAGTAAATTTTTTTTTTTTTAATTACTGGGTTTTTAGGGTCAGGCAGTATCAGGGATTGAAGTCATTTGGGGAAAATTGAGGTGGATTTTGTATGTGGGGGAAACTTCCTCTTTGTGTGTTACATATTTTTCTTCACCATACCCTAACTAGGCATTGCAGCTGTTTGAGTCCCATGCAGGGCATCTTGGCCCACAGCTCTTCAACAAGTTTGCACTGCCTTACATCCGTGATGTGGCCAAGCAAGTGAAGGCCAGGTTGCGGGAGGCAGGCCTGGCACCAGTGCCCATGGTGAGGATTGGGATGGGTTGAGTGAAGGTGGTCCTGTGGAGCTTTCAGGCTAAGTCCTGCATGGACTGGAGTGACCACTGGAGGGCAGCAGAAGTACAGTCAAGAAAGATTAGTGGTTGTAGCAAGGCCCTCTGTAGCCTGAGATCTGCTTTTTTCTAGATCATCTTTGCTAAGGATGGGCATTTTGCCCTGGAGGAGCTGGCCCAAGCTGGCTATGAGGTGGTTGGGCTTGACTGGACAGTGGCCCCAAAGAAAGCCCGGTAAGCCATGGAAGGGTGAGGCCTTGAGGTTGAGGTGGGGGTGTTGGCTGGGGGAGCTGCCATGTATGCAGTTACCAGAACGTGGCGCTGGCTTTGCTTCCAGGGAGTGTGTGGGGAAGACGGTGACATTGCAGGGCAACCTGGACCCCCTGTGCCTTGTATGCATCTGAGGTAACAGCCAGGGCCCCTCTGTGTGTCTGTTACTGTGCACTCCTGTGGCTGTGGCTGTATTATTCTGTGTGCACTTGTTTTTAATGTCTGTCTGTCCTTTTCTTCTACTCTGTACAACATAAGCCCTAGAAAGACCGGACTTTTTGTTGCTGTTGTTCATTTGTGTTTATGCTTCATGCCTGGGTCCATACTAGGGATCTGATAAATTTTATTGAATGACTGAATAACACTGAGTAGAAGCATGCCTACATATGCGTTTGTCACTAGTATATATAGGGAGGACAAAGGCTTGCTGGTCCTCCTGTAGCCAGTGCCCTGTTGGTCCCCCAGGAGGAGATCGGGCAGTTGGTGAAGCAGATGCTGGATGACTTTGGACCACATCGCTACATTGCCAACCTGGGCCATGGGCTTTATCCTGACATGGACCCAGAACATGTGGGCGCCTTTGTGGATGCTGTGCATAAACACTCACGTCTGCTTCGACAGAACTGAGTGTATACCTTTACCCTCAAGTACCACTAACACAGATGATTGATCGTTTCCAGGACAATAAAAGTTTCGGAGTTGAACTATTGTGTAGTTTTGTTTGTGAAAGATTGTGCCCATATCCTCAGTTCTTCTTAGCCTCTGCTCCTTCCCTGGGAACCCTCTCTATATCCTCTTCACAAGTCATGGGGGTTAGGTATCAGTGAATATGTACTATAGCACTTAAGGATTCTCATTCCCATCTTACTCTCAGATACCTAAGTCCCAGAACTACATGGGGTAGGGTAGAGCTTTCCTAGCAGTTCAGGTTGTGACATTTGCAGAAAAACGGGTGGGGTCCTCACAACATACAAAGGCCAAATTGATAGGGCTTTATGTCTGGGGAGAAAGGGAAGTATACATCAAAAAGGGGCACAGAAGGGGTTAGAACACTTCAGAGAGGCATGGGGAAGAAGATGGAGTCTAGGCAAGCAGGGAGAAGCTGAGGGACCCTCAGCTTTGACACCAAAATATATAGAGGACATGAAAGCTCAGAGCTAGGTTGCTTAGGATTGGAGCTTTAGACAAGTCGATCATCACCAAAGCAAGAAGTCCTCTGAAACCAAAAGACCCTCTGGCAACTCAAGGTTGCTTTATATTCTTTTCTGAGCATCCCCTTTAATTTTCTCAAGATCTTGGTTATTCCACCCTTCCTGGTGGTACCTGCTTCCCAGGACAAGGCTCTGAGGTGTCTGTAAGCCCTGGGGAAGGGTCTGGTATGGCAAGAAATTCTTTATCTGTCAGTCATTCTGCATCTCCTTAGACCACTAGGCACCCACTGTGCTGTAGGCTGAACCAGCTCCCTGGCCCAGCCAGGGCAATGCAGAAAGGAGAGATGGGTTTCATTTAGTGAGAGAACACAATTTCTGCTTTTAGAAAAATGATCTTTTATGTGATCCATGATTTATTCATAGAAAAGCACTGTGAATTCACACACTTGCTAAAAAAGGGCAACTGTGATACAGAAATGAGAGTGGCTTCTCTCTTTTTTTTAACCAACCCATTGGGCTGAGACGTAGGGGCCCTTGGCTGGACAGTAAGACTTGAGTAGCCACAAATGGCAAATACAACTTCTTGGTCAGTTTGGAGTAAAAAAGGTGACAGTTTGTCGAAGAAAGAAAAAGTAAAGCAGATGGAGAAGTTCTTAGTTCACATTCTAGCTATACCACCCCTTCCCTATCAAACCCCACCCCCAACTCAGGAACTAAGACATGAAACAGTAAACACCAAGACACTGGTTCCAACTGACTTTTCTGAGTGCCCTTGCTACCTCCTATAACAATTCCAGGCTGAGCACAGGGGTCAGGAAGGTAGCAGGAACATGATACACTATGGAGGTCAGCCAGGGCTAAGACAGGACTGCCCACTAGGGCTAGAAATTAGGAAGGGAGAGGCTAAGTGCAGACCAGCCCTAGCCTCCAAGTCAGCGAGCAATGAGACTGTGACAAAAGCCGGCGAGGAAGCTTGAGGTAGAAAGGCAGGGGAAGAAAGCAAGT
pathogenic
8,149
Gene MUTYH (mutY DNA glycosylase) variant at chromosome position 45329450 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
benign
TGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTG
TGGCGGACGCCGGCGCTGCAACCCGGGAGCTGGCAGCGCTGGGCTGCAGCGTGCCTGTCCCTCCCGTTCGCGTGCGGGACGCGCAGGGTGCCGCCACTTACGCCGTGGTCAGCTCGCCTGCCGGCATCCTCAGCCTGACCTTGCTGGAGCGCGCTGGCTACCGCGGACCCTTCCTACCCGGCTTCAGGCCCGTGTCCTCTGCGCCTGGCCCCGGGTGGGTCAGCCGCGTGGACCACCTGACCTTGGCCTGCACCCCCGGCAGCTCCCCCACACTTTTGCGCTGGTTCCACGACTGCCTGGGCTTTTGCCACTTGCCGCTGAGCCCAGGTGAGGATCCCGAGCTGGGCCTCGAAATGACAGCAGGGTTTGGGCTTGGGGGACTGAGGCTTACAGCCCTGCAGGCCCAGCCGGGCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCCCTTCCGGGGGCGACGACACGACAGGACCAGGTGGAGCAGTTCCTGGCCCGGCACAAGGGGCCAGGCCTGCAGCACGTGGGGCTGTATACGCCTAACATTGTGGAGGCCACTGAGGGGGTGGCAACTGCTGGAGGCCAGTTCCTGGCTCCCCCTGGGGCATACTACCAGCAGCCAGGAAAGGAGAGGCAGATCCGAGCTGCAGGGCACGAGCCTCATCTGCTTGCTCGACAGGGGATCCTGCTAGATGGTGATAAAGGCAAGTTTCTGCTTCAGGTCTTCACCAAGTCCCTTTTTACTGAGGACACTTTCTTCCTGGAGCTGATTCAGAGGCAGGGGGCCACTGGCTTTGGTCAGGGCAACATCAGAGCTCTGTGGCAGTCCGTACAGGAGCAATCTGCCAGGAGCCAGGAAGCCTAAGGATGCCCAGGGCTGGGTGCAGCCAGCTGTCCTGCAGCTCTGGGGAGACCAGCACAGAACTGAGGAACATCTGCAGGAGGCCCAACTAGTGAAAGGCTTTGCCTCCGGGGGGCAGGTGTGACTTCCATTTCATCAGTGCCTGCCAGAAGCTGTGTCTCTCATTGGGCTCCAAAGAGGTGGGATTTTTTAAAACTAAAACATTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGNNN
benign
8,192
Considering the variant on chromosome 1, location 45330513, involving gene MUTYH (mutY DNA glycosylase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
TTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGG
TTTCTTATATACAGTCTATAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTCCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGN
pathogenic
8,195
Benign or pathogenic: chromosome 1, position 45330531, gene MUTYH (mutY DNA glycosylase) variant? Disease(s) if pathogenic?
pathogenic; ['Familial_adenomatous_polyposis_2']
TAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGC
TAATAAATATGTAAGATACAAAGAACAATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCN
pathogenic
8,202
Gene MUTYH (mutY DNA glycosylase) variant at chromosome 1, position 45330557—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
AATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCA
AATAAAAGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCANN
pathogenic
8,207
A genetic variant at chromosome 1, position 45330563, affecting gene MUTYH (mutY DNA glycosylase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
benign
AGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTG
AGAATTACACACTAGGAAATAGAACATAACCAATACTTTCGAGTCCTCCCTGTGTCCCGCTGTGATTCTATTTCCTCCCACCCACTCCTCAAATCCTGTCATTATTAGCCCTTTGCTTTTCTGTATTGTTTCACTCCGTATGTAACATAACCCTAAATAAATTATTTCGTATTTGAGGTAGGAATTTAAAACAGAACAAATCTTCTCCTGTGCTTCCTCTCCCCCTAGGGAGCGACCACTCAGGTGGGGAGGGGCTGGGTGAGAGTTGAGCCCAACTACCTACTCCAGAGTGATGCCACCACTCCAATTAGAGCTGACCTGAGACGTAAACAGAGGGTGTTGTGTGTCAGCCACTGGCAGGTTCTCCCTGTAGCTGCCTTGCCTTTCTCCTGGGGGTTGGAGGGCAGATCAGTCTGGACAGAACACCCCCACTCCAACCCCATCTGCCCGGGGCTGGCTGGGAGTTCAGCCAGAGAAAGTCAGAACCAAGCAGAACGTCACCACTTTTCTGGGTCCCTCCCTCAGATATAAGGGGTGAGGGGGCTAGGGAGAGGGTGGAAGGCTGTCCAAAATAGCTACAAAAGGGCGGGCGTGGTGGCTCATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGNNN
benign
8,210
Variant in gene MUTYH (mutY DNA glycosylase), located at chromosome 1 position 45331164: benign or pathogenic? What disease(s) does it cause if pathogenic?
benign
ATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCC
ATGCCTGTAATCCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCNNN
benign
8,217
Is chromosome 1, position 45331175, gene MUTYH (mutY DNA glycosylase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
CCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCC
CCAAGCACTTTAGGAGGCTGAAGTGGGAGAATCACTTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCNNNNNNN
pathogenic
8,220
Is the chromosome 1, position 45331210 variant in MUTYH (mutY DNA glycosylase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['Familial_adenomatous_polyposis_2']
TTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGT
TTGAGGCCAGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAG
pathogenic
8,231
Evaluate the clinical significance of the mutation at chromosome 1, position 45331218 in gene MUTYH (mutY DNA glycosylase): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['Breast_carcinoma', 'Colorectal_polyposis', 'Familial_adenomatous_polyposis_2', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome', 'likely other unspecified diseases']
AGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGC
AGAATCACCTGAGTTCGAAACCAGTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCNNN
pathogenic
8,232
Determine if the mutation at chromosome 1, position 45331241 in gene MUTYH (mutY DNA glycosylase) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
GTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGC
GTCTGAGCAACATAGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGT
pathogenic
8,240
Evaluate the clinical significance of the mutation at chromosome 1, position 45331254 in gene MUTYH (mutY DNA glycosylase): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
AGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTG
AGCGAGACCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGNN
pathogenic
8,243
Variant at chromosome 1, position 45331261, gene MUTYH (mutY DNA glycosylase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['Familial_adenomatous_polyposis_2']
CCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGT
CCCCCATCTCAAAAAAATACAACATAAAATAACTACAAAAATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCATGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTN
pathogenic
8,245
Assess the variant on chromosome 1, position 45331301, impacting MUTYH (mutY DNA glycosylase): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
ATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGG
ATAAGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATAGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGN
pathogenic
8,256
Does the variant impacting MUTYH (mutY DNA glycosylase) on chromosome 1, position 45331304, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Familial_adenomatous_polyposis_2']
AGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGT
AGCACTTTACTAACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAG
pathogenic
8,257
A mutation at chromosome position 45331315 on chromosome 1 in gene MUTYH (mutY DNA glycosylase): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
AACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGG
AACAACAGGATTCTCAGGGAATGGGGGCTTTCAGAGGTGTCACTGGGCTGCACTGTTGAGGCTGTGTGCATCAGTGGAGATGTGAGACCGAAAGAAATTATCCAGGACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGNN
pathogenic
8,261
Variant on chromosome 1, at position 45331421, affecting MUTYH (mutY DNA glycosylase): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Familial_adenomatous_polyposis_2']
ACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCC
ACTTGCTGGCCCATGCGGGGCTTTTTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCN
pathogenic
8,271
Variant chromosome 1, position 45331445, gene MUTYH (mutY DNA glycosylase): benign or pathogenic? Disease(s)?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
TTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTA
TTCCGACTGCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTAN
pathogenic
8,282
Is the chromosome 1, position 45331453 variant in MUTYH (mutY DNA glycosylase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
GCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTG
GCACGGAGAGGACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGNNNNNNNNNN
pathogenic
8,287
A genetic alteration at chromosome 1, position 45331464, in gene MUTYH (mutY DNA glycosylase)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
ACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTA
ACACCTGGGACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCATGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTANNNNNNNNNNNNN
pathogenic
8,292
The genetic variant at chromosome 1, position 45331473, affecting gene MUTYH (mutY DNA glycosylase): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
ACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGAC
ACCTTTTGGAACCCTGTGAAAAAATGGAAGGAGGGAGGCCTTGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACN
pathogenic
8,297
Is the chromosome 1, position 45331514 variant in MUTYH (mutY DNA glycosylase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_2', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome', 'MUTYH-related_disorder']
TGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGC
TGTAGTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAG
pathogenic
8,311
Is the chromosome 1, position 45331518 variant in MUTYH (mutY DNA glycosylase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
GTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGC
GTTGGGGGAGGGGGAGCAGAGAATCCTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCNNNNNNNNNNN
pathogenic
8,312
Benign or pathogenic: chromosome 1, position 45331543, gene MUTYH (mutY DNA glycosylase) variant? Disease(s) if pathogenic?
pathogenic; ['Familial_adenomatous_polyposis_2']
CTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATC
CTCTCCTTGTCCTCTCTCCCTTTCCCCGACTCTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
pathogenic
8,326
Located at chromosome 1 position 45331574, the variant affecting gene MUTYH (mutY DNA glycosylase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
benign
CTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTG
CTACTGATCTAGCTAGGCTTAGCCTGGAATGCTGTAGAGCTTTCATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAG
benign
8,335
For chromosome 1, position 45331617, gene MUTYH (mutY DNA glycosylase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
benign
CATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCC
CATCCTGCCTCAAGTATCTGCCCCATCAATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCNN
benign
8,339
Variant at chromosome position 45331644, chromosome 1, gene MUTYH (mutY DNA glycosylase): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
benign
AATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAG
AATCAACCCTCCAAAAGGCTGCCTGAGGGAATCGAATTGTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGN
benign
8,342
Does the chromosome 1 mutation at position 45331682 within gene MUTYH (mutY DNA glycosylase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
benign
GTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTG
GTCCTAAAAATGCAAATCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAATAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTG
benign
8,352
Is chromosome 1, position 45331698, gene MUTYH (mutY DNA glycosylase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
TCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGC
TCTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCNNNNNNNN
pathogenic
8,357
A genetic variant on chromosome 1, position 45331699, affects the gene MUTYH (mutY DNA glycosylase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_2', 'Familial_colorectal_cancer', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome', 'MUTYH-related_disorder', 'likely other unspecified diseases']
CTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCC
CTGACTCCTCTCTCCTCCACCTAAAATGAGTCAGCAGCCTAGGGCTCACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCN
pathogenic
8,358
Classify the chromosome 1 variant at position 45331745 affecting gene MUTYH (mutY DNA glycosylase) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
CACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAAT
CACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAA
pathogenic
8,368
Variant in gene MUTYH (mutY DNA glycosylase), located at chromosome 1 position 45331745: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
CACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAAT
CACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATN
pathogenic
8,369
Determine if the mutation at chromosome 1, position 45331745 in gene MUTYH (mutY DNA glycosylase) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Familial_adenomatous_polyposis_2']
CACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAAT
CACACCCTGACTGACCCAGCAGGCCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATNN
pathogenic
8,370
Variant at chromosome 1, position 45331768, gene MUTYH (mutY DNA glycosylase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
CCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAG
CCCTGCTGACCTTTCCAGCTAAACCAACTGCTCACAGCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGN
pathogenic
8,381
Does the variant on chromosome 1 at location 45331804 affecting gene MUTYH (mutY DNA glycosylase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
GCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCAC
GCTCCTTGAGCACTGCAGCCTGCACTGGGCTCCACCTTTGCTCACACTACTCTTGGGACTGGAAAGAACATCGCTACGGTTGATTCCCCTCCCAAACCTGAAGAAAAGGATTCATTTCTAGGACGAAGATTACCAGCTGCTTCCTCCAAACAGCCTTTCCTGATCCGTCTCCCAATTAGAACTGATAGCTCCCATGGATGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACNN
pathogenic
8,389
Regarding the variant found on chromosome 1 at position 45332056 in gene MUTYH (mutY DNA glycosylase): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
AGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGC
AGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTAGCAGGCACCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCN
pathogenic
8,419
Assess the variant on chromosome 1, position 45332164, impacting MUTYH (mutY DNA glycosylase): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
CCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAA
CCAGCTACTTGGGAGACTGAGGCAGGAGAATCGCTTTAATCCAGTTGTGGGAGATTGCAGTGAGCCGAGATCGGGCCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAANN
pathogenic
8,441
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 45332239, gene MUTYH (mutY DNA glycosylase): what disease(s) if pathogenic?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
CCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGG
CCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTG
pathogenic
8,458
Variant in MUTYH (mutY DNA glycosylase), chromosome 1, position 45332239—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Carcinoma_of_colon', 'Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
CCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGG
CCACTGCACTCTAGCTTGGGTGACAGTGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGN
pathogenic
8,459
Does the variant impacting MUTYH (mutY DNA glycosylase) on chromosome 1, position 45332287, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Familial_adenomatous_polyposis_2']
AAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCC
AAAAAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCC
pathogenic
8,469
Evaluate if the mutation on chromosome 1 at position 45332290 in MUTYH (mutY DNA glycosylase) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
AAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGC
AAAAAAAAAAAGAACTGATGGCTCCACAATTCATATCCCACAAAACTCAGTACAGGCATTTCACACACCTGTGACACTGGAGAGTCCTCATCATTTTTTTCCTTTCCCTCTACCCTGCACCCCACAATGGAAGGTCTCCAGGTCAAGAACTATTCCTCCCTCCAGTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCCTCCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAG
pathogenic
8,471
Clinical significance of chromosome 1, position 45332454, gene MUTYH (mutY DNA glycosylase): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
GTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCC
GTGAAGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCN
pathogenic
8,504
For chromosome 1, position 45332458, gene MUTYH (mutY DNA glycosylase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
AGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCAT
AGCCTGGAGTGGAGAATGTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCAGCAGCTGCGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTC
pathogenic
8,507
Clinical significance of chromosome 1, position 45332475, gene MUTYH (mutY DNA glycosylase): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
GTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAA
GTTCACCCAGACATTCGTTAGTTAACTGACTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAN
pathogenic
8,509
Benign or pathogenic: chromosome 1, position 45332504, gene MUTYH (mutY DNA glycosylase) variant? Disease(s) if pathogenic?
benign
CTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATG
CTAAAAACCTATGGACTCAGGCCTGGGGAGACACGGTTGGGAGAGGCCTAGGAGACTTACCATACAGGTCCCTGGCTGTTGGCCCTGATACACACGGAAAACCTAGACAAGAAGACAGGGAGGTGAGGGCTGGCACTTTTTGCAAAAGAGATAAACCGGTGTTCTGCCCTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGNN
benign
8,518
The mutation in gene MUTYH (mutY DNA glycosylase) at chromosome 1, position 45332672—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
CTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGG
CTTAACTTCATGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGN
pathogenic
8,550
Variant in MUTYH (mutY DNA glycosylase), chromosome 1, position 45332682—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Familial_adenomatous_polyposis_2']
TGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTAC
TGTCCCAGTACTTTTGTTTAAAATATGCTTTTTTGGCCAGGCATGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCAAGTCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTAACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTA
pathogenic
8,553
The genetic variant at chromosome 1, position 45332803, affecting gene MUTYH (mutY DNA glycosylase): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
GCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGG
GCCTGGCCAACATGGTGAAACCCCATCTCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGNNNNNNNNNN
pathogenic
8,577
Does the genetic variant at chromosome 1, position 45332830, impacting gene MUTYH (mutY DNA glycosylase), appear benign or pathogenic? If pathogenic, name the associated disease(s).
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
TCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGG
TCTAAAAATACAAAAAATCATGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGN
pathogenic
8,586
The mutation in gene MUTYH (mutY DNA glycosylase) at chromosome 1, position 45332886—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Colonic_neoplasm', 'Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
ATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTG
ATTCTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAAGAGTTGGAGACCAGCCTGGCCAGCATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGNNNNNNNNNNNNN
pathogenic
8,592
A genetic alteration at chromosome 1, position 45332956, in gene MUTYH (mutY DNA glycosylase)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Familial_adenomatous_polyposis_2']
AACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCT
AACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAATCCGAGCTACTCAGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGATGGAGGTTGCAGTCAACCGAGATAGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCATTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTN
pathogenic
8,607
Determine whether the variant at chromosome 1, position 45333095, in gene MUTYH (mutY DNA glycosylase) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
TGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAAT
TGCACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATN
pathogenic
8,618
The mutation impacting MUTYH (mutY DNA glycosylase) on chromosome 1 at position 45333097: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Familial_adenomatous_polyposis_2']
CACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGG
CACTCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGNN
pathogenic
8,620
Clinical classification of chromosome 1, position 45333100, gene MUTYH (mutY DNA glycosylase): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome']
TCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCG
TCCAGCCTGGGCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAA
pathogenic
8,621
Determine if the mutation at chromosome 1, position 45333110 in gene MUTYH (mutY DNA glycosylase) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
GCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCT
GCAACAGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTC
pathogenic
8,626
Chromosome 1, position 45333115, gene MUTYH (mutY DNA glycosylase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Familial_adenomatous_polyposis_2']
AGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAG
AGAGCGATTCTCCGTCTCAAAAAAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACA
pathogenic
8,630
Is the genetic variant on chromosome 1, position 45333137, gene MUTYH (mutY DNA glycosylase), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Familial_adenomatous_polyposis_2']
AAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGT
AAAAATGCTTTTTTTCCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTN
pathogenic
8,632
Does the variant impacting MUTYH (mutY DNA glycosylase) on chromosome 1, position 45333152, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Familial_adenomatous_polyposis_2']
CCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTAT
CCTGTTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCTGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTG
pathogenic
8,635
Is the chromosome 1, position 45333156 variant in MUTYH (mutY DNA glycosylase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['Familial_adenomatous_polyposis_2']
TTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCA
TTTACACAGTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCANN
pathogenic
8,637
The genetic variant at chromosome 1, position 45333164, affecting gene MUTYH (mutY DNA glycosylase): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
GTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCAT
GTAATATATTCATGTAGAACATGTAGGAAACACAAGGAAGTACAACAAAGACAACAAAGGTAGTGCCTTTTTCATGGCGGTGGAAACAGCTGCGGTGTGAAATTCCTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATN
pathogenic
8,640
Does the genetic variant at chromosome 1, position 45333269, impacting gene MUTYH (mutY DNA glycosylase), appear benign or pathogenic? If pathogenic, name the associated disease(s).
benign
CTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGC
CTCCTGCGTCAGCCAGCGAGCACCTGGTGGTACGGTGGTCACTGGGGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCNNN
benign
8,653
Does the genetic variant at chromosome 1, position 45333314, impacting gene MUTYH (mutY DNA glycosylase), appear benign or pathogenic? If pathogenic, name the associated disease(s).
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
GGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATA
GGTCTGCCCTTCCAAGGCCAGCCCATATACTTGATATGTCAGCTTGATGTGAGAGAAGGTGTGGACAACCTGGAGGAAGGGTCAAGGGGTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAN
pathogenic
8,664
A genetic alteration at chromosome 1, position 45333402, in gene MUTYH (mutY DNA glycosylase)—benign or pathogenic? If pathogenic, which disease(s) is involved?
benign
GTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTC
GTTCAAATAGGCCTGTGGATATAGCCTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTG
benign
8,669
Mutation at chromosome 1, position 45333427, within MUTYH (mutY DNA glycosylase): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Familial_adenomatous_polyposis_2']
CTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAAC
CTCAAAAGCCAACATCCTTGGCTATTCCGCTGCTCACTTACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAA
pathogenic
8,676
Variant chromosome 1, position 45333466, gene MUTYH (mutY DNA glycosylase): benign or pathogenic? Disease(s)?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
ACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCC
ACCTCCCCAAGGTGCCGGAGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCCN
pathogenic
8,691
The genetic variant at chromosome 1, position 45333484, affecting gene MUTYH (mutY DNA glycosylase): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
AGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCCTCTTCAGGGTCCTGCTCC
AGGTGCGTGGCTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCCTCTTCAGGGTCCTGCTC
pathogenic
8,695
A mutation at chromosome position 45333494 on chromosome 1 in gene MUTYH (mutY DNA glycosylase): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome']
CTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCCTCTTCAGGGTCCTGCTCCTCCAATCCCG
CTGGGAGGGGCCCAGCCCAACGCTGTAGTTCCTGCAGCAGGGCCTTGCGCTGAAGCTGCTCTGAGGGCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCCTCTTCAGGGTCCTGCTCCTCCAATCCCGNN
pathogenic
8,698
Variant at chromosome 1, position 45333560, gene MUTYH (mutY DNA glycosylase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
GCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCCTCTTCAGGGTCCTGCTCCTCCAATCCCGTCTAACTGTTGGAACTCAGAAACTAATACCCCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCA
GCTCCCAGGTCACGGACGGGAACTCCCACAGTCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCTCAGCTGCCGATTCCCTCCATTCTCTCTTGTTACTCATGCCACTGCCCTCCACGCCCAGTATCCAGGTACCTGAGTTGGGCCTCTGCACCAGCAGAATTTGGGCCCCAAGGGCCCCAGGCTGTTCCAGAACACAGGTGGCAGAGCTCTCCTCCCTGGGGGGCTTGCGGCTGGCCTTTCTGGGGAAGTTGACCACTCCCAGGGTCTGGTCCCAGGGCTCCGAGGGAGGCAGGCACAGGTGGCACTGTCCAGTGTTGGGAGCTGGGAACGGAGATCCCCGAACCCTACTCAAGCCAAGAGGGCTTTAGGGGCCAACCTAGAGAGTGGGCTTTGGCCGGGTTCTGCAGAATCTTACTCAGGTTAGAGGAAGAACTGGAATGGGGCTTCTGACTGGGCCAGGAAGGGTTGGGGTGGGGGCTAGGTTTGGTGCTCACCACACTCCTCCACGTCAGGACTGCCCGACAGGCTCCCTGAGGCTAAGAGCTGTTCCTGCTCCACCTGAGAGGCACAGGGTTGAGTGTCATAGGGCAGAGTCACTCCTTAGGACTTCTCACTGCCCCTTCCCCAGTAGGCTTACTCTCTGGCGTGCCCGGCACAGGCTCTCCACAGGGCACTGGCTGCACAGTGGGCGCTGTGGGGTACACACTGTGGCCCCTAGCTCCATGGCTGCTTGGTTGAAATCTCCTGGCCGGGCTGGGTCCACCAGCTGCTGGGCTAGACCCCTAAAAGAAGGGAACACTGCTGTGAAGCAGAGCTCCTTTGCAGACACCCCTGAAGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCCTCTTCAGGGTCCTGCTCCTCCAATCCCGTCTAACTGTTGGAACTCAGAAACTAATACCCCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAN
pathogenic
8,711
A genetic variant on chromosome 1, position 45334412, affects the gene MUTYH (mutY DNA glycosylase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
AGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCCTCTTCAGGGTCCTGCTCCTCCAATCCCGTCTAACTGTTGGAACTCAGAAACTAATACCCCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAACACTGCGGGAGGCTAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATCCAAAAAAATTAGCCAGACGTGCTCGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACAGCCTGGGCAACAAAGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAAGAAAAGAAACCAATACCCCAAAATATGGCCCTCTGACATGCTGAACTCAAGAAGCCGCAAGGTCTCTCTGATCCTTCCACCCCAGACTCTCCCAAAGCCAGGATAAAGTTGTTCTCTGGAACTCTTTATCTGCCTAAAGTCCAAACTCACTAAAAAGAATACTTGTTTTTTCTTCCCCTCCCAATAAGACTAACATGTAACCACACCTGAACAAACCCTTTCACAGGTATTGTGTACCTCAGGATCACTCAAATTCCAAAGAGAACTATTAACAAGTCAACCTCTGTCCCCATTCCATTCTCTCTAGTAATCCTTTATTGCCCTTCAACAGAATCTCCTTCTGGCCAAAGTTCGGTTTATTTAAAAACAAATAGAGCTGGACATGCTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTACTTGAGCCCAGGAGTTCGAGATTAGGCTTGCAACATAGCAAGACCCCGTCTCTACAAAAACAGAAAAACAGAATTTCTCTTCTACCCCTTGTCAGGCCTCTGAGCCCAAGCTAAGCCATCATATCCTCAGTAACCTGCACTTATACATCCAGATGGCCTGAAGCAACTGAAGATCTACAAAAGAAGTGAAAATAG
AGCACCCTTGTTACCCCAACATCCTACCAGAGCTGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCCTCTTCAGGGTCCTGCTCCTCCAATCCCGTCTAACTGTTGGAACTCAGAAACTAATACCCCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAACACTGCGGGAGGCTAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATCCAAAAAAATTAGCCAGACGTGCTCGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACAGCCTGGGCAACAAAGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAAGAAAAGAAACCAATACCCCAAAATATGGCCCTCTGACATGCTGAACTCAAGAAGCCGCAAGGTCTCTCTGATCCTTCCACCCCAGACTCTCCCAAAGCCAGGATAAAGTTGTTCTCTGGAACTCTTTATCTGCCTAAAGTCCAAACTCACTAAAAAGAATACTTGTTTTTTCTTCCCCTCCCAATAAGACTAACATGTAACCACACCTGAACAAACCCTTTCACAGGTATTGTGTACCTCAGGATCACTCAAATTCCAAAGAGAACTATTAACAAGTCAACCTCTGTCCCCATTCCATTCTCTCTAGTAATCCTTTATTGCCCTTCAACAGAATCTCCTTCTGGCCAAAGTTCGGTTTATTTAAAAACAAATAGAGCTGGACATGCTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTACTTGAGCCCAGGAGTTCGAGATTAGGCTTGCAACATAGCAAGACCCCGTCTCTACAAAAACAGAAAAACAGAATTTCTCTTCTACCCCTTGTCAGGCCTCTGAGCCCAAGCTAAGCCATCATATCCTCAGTAACCTGCACTTATACATCCAGATGGCCTGAAGCAACTGAAGATCTACAAAAGAAGTGAAAATAGNNNN
pathogenic
8,724
Assess the variant on chromosome 1, position 45334445, impacting MUTYH (mutY DNA glycosylase): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
TGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCCTCTTCAGGGTCCTGCTCCTCCAATCCCGTCTAACTGTTGGAACTCAGAAACTAATACCCCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAACACTGCGGGAGGCTAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATCCAAAAAAATTAGCCAGACGTGCTCGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACAGCCTGGGCAACAAAGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAAGAAAAGAAACCAATACCCCAAAATATGGCCCTCTGACATGCTGAACTCAAGAAGCCGCAAGGTCTCTCTGATCCTTCCACCCCAGACTCTCCCAAAGCCAGGATAAAGTTGTTCTCTGGAACTCTTTATCTGCCTAAAGTCCAAACTCACTAAAAAGAATACTTGTTTTTTCTTCCCCTCCCAATAAGACTAACATGTAACCACACCTGAACAAACCCTTTCACAGGTATTGTGTACCTCAGGATCACTCAAATTCCAAAGAGAACTATTAACAAGTCAACCTCTGTCCCCATTCCATTCTCTCTAGTAATCCTTTATTGCCCTTCAACAGAATCTCCTTCTGGCCAAAGTTCGGTTTATTTAAAAACAAATAGAGCTGGACATGCTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTACTTGAGCCCAGGAGTTCGAGATTAGGCTTGCAACATAGCAAGACCCCGTCTCTACAAAAACAGAAAAACAGAATTTCTCTTCTACCCCTTGTCAGGCCTCTGAGCCCAAGCTAAGCCATCATATCCTCAGTAACCTGCACTTATACATCCAGATGGCCTGAAGCAACTGAAGATCTACAAAAGAAGTGAAAATAGCCTTAACTGATCACATTCCACCACTGTGATTTG
TGCTGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCCTCTTCAGGGTCCTGCTCCTCCAATCCCGTCTAACTGTTGGAACTCAGAAACTAATACCCCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAACACTGCGGGAGGCTAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATCCAAAAAAATTAGCCAGACGTGCTCGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACAGCCTGGGCAACAAAGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAAGAAAAGAAACCAATACCCCAAAATATGGCCCTCTGACATGCTGAACTCAAGAAGCCGCAAGGTCTCTCTGATCCTTCCACCCCAGACTCTCCCAAAGCCAGGATAAAGTTGTTCTCTGGAACTCTTTATCTGCCTAAAGTCCAAACTCACTAAAAAGAATACTTGTTTTTTCTTCCCCTCCCAATAAGACTAACATGTAACCACACCTGAACAAACCCTTTCACAGGTATTGTGTACCTCAGGATCACTCAAATTCCAAAGAGAACTATTAACAAGTCAACCTCTGTCCCCATTCCATTCTCTCTAGTAATCCTTTATTGCCCTTCAACAGAATCTCCTTCTGGCCAAAGTTCGGTTTATTTAAAAACAAATAGAGCTGGACATGCTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTACTTGAGCCCAGGAGTTCGAGATTAGGCTTGCAACATAGCAAGACCCCGTCTCTACAAAAACAGAAAAACAGAATTTCTCTTCTACCCCTTGTCAGGCCTCTGAGCCCAAGCTAAGCCATCATATCCTCAGTAACCTGCACTTATACATCCAGATGGCCTGAAGCAACTGAAGATCTACAAAAGAAGTGAAAATAGCCTTAACTGATCACATTCCACCACTGTGATTTGN
pathogenic
8,732
Located at chromosome 1 position 45334448, the variant affecting gene MUTYH (mutY DNA glycosylase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Hereditary_cancer-predisposing_syndrome']
TGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCCTCTTCAGGGTCCTGCTCCTCCAATCCCGTCTAACTGTTGGAACTCAGAAACTAATACCCCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAACACTGCGGGAGGCTAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATCCAAAAAAATTAGCCAGACGTGCTCGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACAGCCTGGGCAACAAAGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAAGAAAAGAAACCAATACCCCAAAATATGGCCCTCTGACATGCTGAACTCAAGAAGCCGCAAGGTCTCTCTGATCCTTCCACCCCAGACTCTCCCAAAGCCAGGATAAAGTTGTTCTCTGGAACTCTTTATCTGCCTAAAGTCCAAACTCACTAAAAAGAATACTTGTTTTTTCTTCCCCTCCCAATAAGACTAACATGTAACCACACCTGAACAAACCCTTTCACAGGTATTGTGTACCTCAGGATCACTCAAATTCCAAAGAGAACTATTAACAAGTCAACCTCTGTCCCCATTCCATTCTCTCTAGTAATCCTTTATTGCCCTTCAACAGAATCTCCTTCTGGCCAAAGTTCGGTTTATTTAAAAACAAATAGAGCTGGACATGCTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTACTTGAGCCCAGGAGTTCGAGATTAGGCTTGCAACATAGCAAGACCCCGTCTCTACAAAAACAGAAAAACAGAATTTCTCTTCTACCCCTTGTCAGGCCTCTGAGCCCAAGCTAAGCCATCATATCCTCAGTAACCTGCACTTATACATCCAGATGGCCTGAAGCAACTGAAGATCTACAAAAGAAGTGAAAATAGCCTTAACTGATCACATTCCACCACTGTGATTTGTTT
TGGGAAACAAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCCTCTTCAGGGTCCTGCTCCTCCAATCCCGTCTAACTGTTGGAACTCAGAAACTAATACCCCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAACACTGCGGGAGGCTAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATCCAAAAAAATTAGCCAGACGTGCTCGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACAGCCTGGGCAACAAAGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAAGAAAAGAAACCAATACCCCAAAATATGGCCCTCTGACATGCTGAACTCAAGAAGCCGCAAGGTCTCTCTGATCCTTCCACCCCAGACTCTCCCAAAGCCAGGATAAAGTTGTTCTCTGGAACTCTTTATCTGCCTAAAGTCCAAACTCACTAAAAAGAATACTTGTTTTTTCTTCCCCTCCCAATAAGACTAACATGTAACCACACCTGAACAAACCCTTTCACAGGTATTGTGTACCTCAGGATCACTCAAATTCCAAAGAGAACTATTAACAAGTCAACCTCTGTCCCCATTCCATTCTCTCTAGTAATCCTTTATTGCCCTTCAACAGAATCTCCTTCTGGCCAAAGTTCGGTTTATTTAAAAACAAATAGAGCTGGACATGCTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTACTTGAGCCCAGGAGTTCGAGATTAGGCTTGCAACATAGCAAGACCCCGTCTCTACAAAAACAGAAAAACAGAATTTCTCTTCTACCCCTTGTCAGGCCTCTGAGCCCAAGCTAAGCCATCATATCCTCAGTAACCTGCACTTATACATCCAGATGGCCTGAAGCAACTGAAGATCTACAAAAGAAGTGAAAATAGCCTTAACTGATCACATTCCACCACTGTGATTT
pathogenic
8,733
Located at chromosome 1 position 45334456, the variant affecting gene MUTYH (mutY DNA glycosylase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Familial_adenomatous_polyposis_2', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome']
AAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCCTCTTCAGGGTCCTGCTCCTCCAATCCCGTCTAACTGTTGGAACTCAGAAACTAATACCCCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAACACTGCGGGAGGCTAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATCCAAAAAAATTAGCCAGACGTGCTCGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACAGCCTGGGCAACAAAGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAAGAAAAGAAACCAATACCCCAAAATATGGCCCTCTGACATGCTGAACTCAAGAAGCCGCAAGGTCTCTCTGATCCTTCCACCCCAGACTCTCCCAAAGCCAGGATAAAGTTGTTCTCTGGAACTCTTTATCTGCCTAAAGTCCAAACTCACTAAAAAGAATACTTGTTTTTTCTTCCCCTCCCAATAAGACTAACATGTAACCACACCTGAACAAACCCTTTCACAGGTATTGTGTACCTCAGGATCACTCAAATTCCAAAGAGAACTATTAACAAGTCAACCTCTGTCCCCATTCCATTCTCTCTAGTAATCCTTTATTGCCCTTCAACAGAATCTCCTTCTGGCCAAAGTTCGGTTTATTTAAAAACAAATAGAGCTGGACATGCTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTACTTGAGCCCAGGAGTTCGAGATTAGGCTTGCAACATAGCAAGACCCCGTCTCTACAAAAACAGAAAAACAGAATTTCTCTTCTACCCCTTGTCAGGCCTCTGAGCCCAAGCTAAGCCATCATATCCTCAGTAACCTGCACTTATACATCCAGATGGCCTGAAGCAACTGAAGATCTACAAAAGAAGTGAAAATAGCCTTAACTGATCACATTCCACCACTGTGATTTGTTTCTGCCCCA
AAGGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCCTCTTCAGGGTCCTGCTCCTCCAATCCCGTCTAACTGTTGGAACTCAGAAACTAATACCCCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAACACTGCGGGAGGCTAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATCCAAAAAAATTAGCCAGACGTGCTCGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACAGCCTGGGCAACAAAGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAAGAAAAGAAACCAATACCCCAAAATATGGCCCTCTGACATGCTGAACTCAAGAAGCCGCAAGGTCTCTCTGATCCTTCCACCCCAGACTCTCCCAAAGCCAGGATAAAGTTGTTCTCTGGAACTCTTTATCTGCCTAAAGTCCAAACTCACTAAAAAGAATACTTGTTTTTTCTTCCCCTCCCAATAAGACTAACATGTAACCACACCTGAACAAACCCTTTCACAGGTATTGTGTACCTCAGGATCACTCAAATTCCAAAGAGAACTATTAACAAGTCAACCTCTGTCCCCATTCCATTCTCTCTAGTAATCCTTTATTGCCCTTCAACAGAATCTCCTTCTGGCCAAAGTTCGGTTTATTTAAAAACAAATAGAGCTGGACATGCTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTACTTGAGCCCAGGAGTTCGAGATTAGGCTTGCAACATAGCAAGACCCCGTCTCTACAAAAACAGAAAAACAGAATTTCTCTTCTACCCCTTGTCAGGCCTCTGAGCCCAAGCTAAGCCATCATATCCTCAGTAACCTGCACTTATACATCCAGATGGCCTGAAGCAACTGAAGATCTACAAAAGAAGTGAAAATAGCCTTAACTGATCACATTCCACCACTGTGATTTGTTTCTGCCCCAN
pathogenic
8,734
Does the genetic variant at chromosome 1, position 45334458, impacting gene MUTYH (mutY DNA glycosylase), appear benign or pathogenic? If pathogenic, name the associated disease(s).
pathogenic; ['Familial_adenomatous_polyposis_2', 'Hereditary_cancer-predisposing_syndrome']
GGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCCTCTTCAGGGTCCTGCTCCTCCAATCCCGTCTAACTGTTGGAACTCAGAAACTAATACCCCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAACACTGCGGGAGGCTAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATCCAAAAAAATTAGCCAGACGTGCTCGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACAGCCTGGGCAACAAAGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAAGAAAAGAAACCAATACCCCAAAATATGGCCCTCTGACATGCTGAACTCAAGAAGCCGCAAGGTCTCTCTGATCCTTCCACCCCAGACTCTCCCAAAGCCAGGATAAAGTTGTTCTCTGGAACTCTTTATCTGCCTAAAGTCCAAACTCACTAAAAAGAATACTTGTTTTTTCTTCCCCTCCCAATAAGACTAACATGTAACCACACCTGAACAAACCCTTTCACAGGTATTGTGTACCTCAGGATCACTCAAATTCCAAAGAGAACTATTAACAAGTCAACCTCTGTCCCCATTCCATTCTCTCTAGTAATCCTTTATTGCCCTTCAACAGAATCTCCTTCTGGCCAAAGTTCGGTTTATTTAAAAACAAATAGAGCTGGACATGCTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTACTTGAGCCCAGGAGTTCGAGATTAGGCTTGCAACATAGCAAGACCCCGTCTCTACAAAAACAGAAAAACAGAATTTCTCTTCTACCCCTTGTCAGGCCTCTGAGCCCAAGCTAAGCCATCATATCCTCAGTAACCTGCACTTATACATCCAGATGGCCTGAAGCAACTGAAGATCTACAAAAGAAGTGAAAATAGCCTTAACTGATCACATTCCACCACTGTGATTTGTTTCTGCCCCACG
GGGTGCTGCTGGGATCAGCACCAATGGCTCGGACACGGCACAGCACCCGTGCTACGTTGCCATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCCTCTTCAGGGTCCTGCTCCTCCAATCCCGTCTAACTGTTGGAACTCAGAAACTAATACCCCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAACACTGCGGGAGGCTAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATCCAAAAAAATTAGCCAGACGTGCTCGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACAGCCTGGGCAACAAAGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAAGAAAAGAAACCAATACCCCAAAATATGGCCCTCTGACATGCTGAACTCAAGAAGCCGCAAGGTCTCTCTGATCCTTCCACCCCAGACTCTCCCAAAGCCAGGATAAAGTTGTTCTCTGGAACTCTTTATCTGCCTAAAGTCCAAACTCACTAAAAAGAATACTTGTTTTTTCTTCCCCTCCCAATAAGACTAACATGTAACCACACCTGAACAAACCCTTTCACAGGTATTGTGTACCTCAGGATCACTCAAATTCCAAAGAGAACTATTAACAAGTCAACCTCTGTCCCCATTCCATTCTCTCTAGTAATCCTTTATTGCCCTTCAACAGAATCTCCTTCTGGCCAAAGTTCGGTTTATTTAAAAACAAATAGAGCTGGACATGCTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTACTTGAGCCCAGGAGTTCGAGATTAGGCTTGCAACATAGCAAGACCCCGTCTCTACAAAAACAGAAAAACAGAATTTCTCTTCTACCCCTTGTCAGGCCTCTGAGCCCAAGCTAAGCCATCATATCCTCAGTAACCTGCACTTATACATCCAGATGGCCTGAAGCAACTGAAGATCTACAAAAGAAGTGAAAATAGCCTTAACTGATCACATTCCACCACTGTGATTTGTTTCTGCCCCACGN
pathogenic
8,735
Is the genetic change at chromosome 1, position 45334518, within gene MUTYH (mutY DNA glycosylase) benign or pathogenic? Name the disease(s) if pathogenic.
benign
CATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCCTCTTCAGGGTCCTGCTCCTCCAATCCCGTCTAACTGTTGGAACTCAGAAACTAATACCCCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAACACTGCGGGAGGCTAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATCCAAAAAAATTAGCCAGACGTGCTCGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACAGCCTGGGCAACAAAGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAAGAAAAGAAACCAATACCCCAAAATATGGCCCTCTGACATGCTGAACTCAAGAAGCCGCAAGGTCTCTCTGATCCTTCCACCCCAGACTCTCCCAAAGCCAGGATAAAGTTGTTCTCTGGAACTCTTTATCTGCCTAAAGTCCAAACTCACTAAAAAGAATACTTGTTTTTTCTTCCCCTCCCAATAAGACTAACATGTAACCACACCTGAACAAACCCTTTCACAGGTATTGTGTACCTCAGGATCACTCAAATTCCAAAGAGAACTATTAACAAGTCAACCTCTGTCCCCATTCCATTCTCTCTAGTAATCCTTTATTGCCCTTCAACAGAATCTCCTTCTGGCCAAAGTTCGGTTTATTTAAAAACAAATAGAGCTGGACATGCTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTACTTGAGCCCAGGAGTTCGAGATTAGGCTTGCAACATAGCAAGACCCCGTCTCTACAAAAACAGAAAAACAGAATTTCTCTTCTACCCCTTGTCAGGCCTCTGAGCCCAAGCTAAGCCATCATATCCTCAGTAACCTGCACTTATACATCCAGATGGCCTGAAGCAACTGAAGATCTACAAAAGAAGTGAAAATAGCCTTAACTGATCACATTCCACCACTGTGATTTGTTTCTGCCCCACGCTAACTGATCAATGTACTTGGTAATCTCCCCCCCACCCTTAAGAAGGTTCTTTATAATCT
CATCCACCACACCGGTTGCCTGGCACAGAGGGGCCAAAGAGTTAGCCTGGGCTGGGAGGAAGGAGGCTGGGCACGCACAAAGTGGGGGTGGGCTGTGAGATCACCTGGCCAAAGGCGATAGAGGCAATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCCTCTTCAGGGTCCTGCTCCTCCAATCCCGTCTAACTGTTGGAACTCAGAAACTAATACCCCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAACACTGCGGGAGGCTAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATCCAAAAAAATTAGCCAGACGTGCTCGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACAGCCTGGGCAACAAAGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAAGAAAAGAAACCAATACCCCAAAATATGGCCCTCTGACATGCTGAACTCAAGAAGCCGCAAGGTCTCTCTGATCCTTCCACCCCAGACTCTCCCAAAGCCAGGATAAAGTTGTTCTCTGGAACTCTTTATCTGCCTAAAGTCCAAACTCACTAAAAAGAATACTTGTTTTTTCTTCCCCTCCCAATAAGACTAACATGTAACCACACCTGAACAAACCCTTTCACAGGTATTGTGTACCTCAGGATCACTCAAATTCCAAAGAGAACTATTAACAAGTCAACCTCTGTCCCCATTCCATTCTCTCTAGTAATCCTTTATTGCCCTTCAACAGAATCTCCTTCTGGCCAAAGTTCGGTTTATTTAAAAACAAATAGAGCTGGACATGCTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTACTTGAGCCCAGGAGTTCGAGATTAGGCTTGCAACATAGCAAGACCCCGTCTCTACAAAAACAGAAAAACAGAATTTCTCTTCTACCCCTTGTCAGGCCTCTGAGCCCAAGCTAAGCCATCATATCCTCAGTAACCTGCACTTATACATCCAGATGGCCTGAAGCAACTGAAGATCTACAAAAGAAGTGAAAATAGCCTTAACTGATCACATTCCACCACTGTGATTTGTTTCTGCCCCACGCTAACTGATCAATGTACTTGGTAATCTCCCCCCCACCCTTAAGAAGGTTCTTTATAATCTNN
benign
8,750
Variant at chromosome position 45343106, chromosome 1, gene TOE1 (target of EGR1, exonuclease): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['Pontocerebellar_hypoplasia_type_7']
CCTCCTAACCCCCAGGTGGTGTCAGCAAAAGCACAACATCTGGGGAGGAGCTAGTAGTCCAGGTTCCCGTAGTGGATGTGCAAAGCAACAACTTCAAGGAGATGTGGCCATCCCTCCTGCTAGCCATAAAGACAGCTAATTTCGTGGCTGTGGACACGGTGAGAGTTGGGAAACAAGGAGGGCAGGTGGTTGTGAAGGGGCTGGTGCTAGAGGCCTGTCACAACTCTCCCTTTACCTACCCACAGGAGCTGAGTGGGCTTGGGGACAGGAAGAGTTTGCTGAACCAGTAAGTATAAGCCCTTTTCTCTTTAGTGCCAGCCCTCAACTGTGGAGTGGGGGGGTCACAGACCTGGGTGGTTTGGGTCCTTCATAAGGCTAACTCCTAGCCACAGCAACCCCCATACCCAACCCCAAGGTGCATTGAGGAACGTTACAAGGCCGTGTGTCATGCTGCCAGGACCCGTTCTATCCTTTCCCTGGGCCTCGCCTGCTTCAAGCGGCAGCCAGACAAGGTATGAGCTGATCTCACCCCAATCCTAGGTGTGGCTGTGGGGTGGAGGGTAGAGAGATTCTAGGGAACATCAGATAGGAAGCATTTCTCTCCCAAATCTTTTTTTTTGACTTGATAGTTTTTTTTTTTTTATTTGAATAGGTTTATGGGGAACAGGTGGTGTTTGGTTAAATGAGTAAGTTCTTTAGTGGCAATTTCTGAGATTTTGGTGCACCTATCACCCAGTGTACACTGTGCCCAATGCGTAGTCTTTTATCCCTCACCTGCCTCCATCCTTTCCCCCCTGAGTCCCCAGAGTCCATTGTATCATTCTTAAGCTTTTGCATCCTCCTAGCTTGGCTCTCTGAAATCTTGATATAGCAGACTTCTCTTTCTCCCAGGGTGAACATTCCTATCTGGCTCAAGTGTTCAATCTCACTCTGCTGTGCATGGAGGAGTATGTCATAGAACCAAAGTCTGTGCAGTTCCTGATACAGCATGGCTTCAACTTCAACCAGCAGTATGCCCAAGGCATCCCCTACCATAAGGGCAATGACAAGGTAGGCCTCTAGCCTCCCTAGCCTTGAGTCTGCCCTTTCTGTGACTTTATTTCTTCCTACCCTAGGCTGGATGTCTGGGGAGAATCTGCTTCTTAGGGAGTATGGGGAATCACTAGTGACAGGGCTTGGGAAACAAGACTGGTATGAGGAGGGTGGGCAGCATTGGGTAAGGTAGAGAGAGAGCGTTCCAAGTGGGGAAGTCTGGGATAAGTGCCCAGCAGAAGAGGCTCCCTGGGGGACTCTGTCCTCCTCATTGACCCCTTTACTTTCATCTAGGGTGATGAGAGCCAGAGCCAGTCAGTACGGACCCTATTCCTGGAGCTAATCCGAGCCCGCCGGCCCCTGGTGCTACACAATGGCCTTATAGACTTGGTGTTCCTGTACCAGAACTTCTATGCACACCTCCCTGAGAGTCTGGGAACCTTCACCGCTGACCTGTGTGAGATGTTCCCAGCAGGCATTTATGACACCAAATATGCTGCTGAGTTTCATGCCCGTTTCGTGGCCTCCTACTTAGAATATGCCTTCCGGAAATGGTGAGGAAATGGTTGAGGGAAAGGGGTGGGGCCTGATACGAGTTTATTTCATTCACTTAAGATATTTATTGAGCTCCTACCATGTGCCCAGGCAGTGTTTTAGGTGCTGAGGATTCAGCAGTGAACAAAACAGACCACAAAACCCTGCTCTTATGGAGCTTATATGCTAGTGGACCATTACCCTCTTGCGCTGTTGCAGTGAACGGGAAAATGGGAAGCAGCGGGCAGCTGGCAGCCCACACCTTACCCTGGAGTTCTGCAACTATCCTTCCAGCATGAGGGACCATATTGATTACCGCTGCTGCCTGCCCCCAGCAACCCACCGTCCTCATCCCACCAGCATCTGTGACAACTTCTCGGTGAGAGCACCCACCTGTTTCTTGGGAGGGAAGGTTCTGATGCCTGGAGCCTCTTTCTAAGCCTCTTTCCCACCCCTAGGCTTATGGCTGGTGCCCCCTGGGACCACAGTGTCCTCAGTCTCACGATATTGACCTTATCATTGACACTGATGAGGCTGCGGCAGAGGACAAGCGGCGACGGCGACGACGTAGGGAAAAACGGAAGAGGGCTTTATTGAACCTACCGGGGACACAGACCTCTGGGGAAGCTAAGGATGGTCCTCCCAAGAAGCAGGTCTGTGGGGATAGCATCAAGCCTGAAGAAACCGAGCAGGAGGTGGCTGCCGATGAAACTAGGAACCTGCCTCACTCCAAGCAAGGCAACAAAAATGACTTAGAGATGGGGATTAAGGCAGCAAGGCCTGAAATAGCTGATAGAGCTACCTCAGAAGTGCCAGGGAGCCAAGCCAGTCCTAACCCAGTGCCTGGGGATGGATTGCACCGGGCTGGTTTTGATGCCTTTATGACAGGTTATGTGATGGCCTATGTGGAAGTGAGCCAGGGACCGCAGCCCTGCAGCTCTGGACCCTGGCTCCCTGAATGCCACAATAAGGTATATTTGAGTGGCAAAGCTGTACCCCTCACAGTGGCCAAGAGCCAGTTCTCTCGTTCCTCCAAAGCCCACAATCAGAAGATGAAGCTCACTTGGGGCAGTAGCTGATGCAACTTCCACCTTGCTCTCAGGTGGAACAGAGGTATTTTGGGTCTCTCTAGCCTGAAATGTCATCCTCAACTGCTACTGAGTTTAGGGGAGGGGGAATGTCTTGACAGACATCACTGCATTGCCCTGGACCGCCTCCTTTATCCCAGTGTTTGAGGTACAAGTAAGAAGGCTGACCAGCACCTGTAACACTGACTTTATTTTTAAGTCTGAAAATGTCTTGGGAAAGTTTTACAAAAAAAAAAATCAACAGAAGCAAGTTATGAAAATATTTGACCAGCTTCATCTTTGGTTATTTCTTATTGCAGCTCTGTAAGGACAGACTGTTCCCAAAGCTCCAGCCATGGCAGGAAGGGAAGCAAATCAGTCCCTGTATAAACCATTTAACCAATTGAATGTATCACATGTTGATAAATACATAGAAGCAGGCCCTAGGGCCTACAAAACCAGCCCCACTCCCAACCACAAGGTTGAAAGTCTTATGGGGCAGAACATTAAGACTCCTTTATAAATATGAAAATAGATTAATCAACAGGAAAAGGTCTTTGAATAGGTTAGCTAAGAGCCATGACCACCACGCTGCCTTGCTGTCCCCTTGCATAGAAATGTAGTGACGTGGTCTGACCATGCAGTAAGTGCAAACAGCAATTACTCAAATGTCTTAGAATACTGGCAAGAAGCACCCCAATATTCAGGTCTGGGAAACAGCCATGACCATTACGGCCTCTTGATCAGCTCCATGTTCCACTCAGTAGCTTATATGCCCCAAGAAAAGGCAAGAGACAGACCTGGGGTGGGGAAAGAACCGGGGTAATAGCTGCCTGCCAGCTCAGCCTAGAACTAGACATCCTCTGGTCCTATCTGGGGAAGTACACTGGAGAGGGTCTGGTGGGAGGCAGACCTCCTTGCTGGATTTCAGAGGCTTGGTATCAGCTGTTGGCCCTAACTAGGAAGGCCTCTCACTGCTGCCTCCCGTCATACACAGCCAATGGGCACTGGGAGCCCAGAAGTTGAGCCTGGCTTGGCCTAGCCTGCCTGCTCTGTAGGCTCCAGGGAAGAATCAAGGCTGTGCACCTAGGGGGCCATATGGTTTCAGCTGAAGGTCCATCCCCAAGGTGAGGCAGGGACTAAACCCCCTCACCCATCCTGCTTTCCCTGGGTTTGCAGGCCTATGCCTGAGGTGGAGAAGGTGGCTGGAGTTGAGCCTGCTGGCCTTTCTTCTACCTCCATCTCCTCAGAAGCACCCGCAGGGCATGGACTGGTCCCCTGGGGCCTGGACCCAAAACCATTTTCTTCCTGGAGAATGGAGCAGTCCATAGCCTCATGGGCTTGAGCAGCTGGTAGGGCAGATGCCCGGAATGGTGGGATCTCTTTAACTCTGTACTTGAGACTACTTAGGCGTGGTGGGGGCCCATCAGATAGCGATTCTTCCCGGCCCACAAATGGACAAG
CCTCCTAACCCCCAGGTGGTGTCAGCAAAAGCACAACATCTGGGGAGGAGCTAGTAGTCCAGGTTCCCGTAGTGGATGTGCAAAGCAACAACTTCAAGGAGATGTGGCCATCCCTCCTGCTAGCCATAAAGACAGCTAATTTCGTGGCTGTGGACACGGTGAGAGTTGGGAAACAAGGAGGGCAGGTGGTTGTGAAGGGGCTGGTGCTAGAGGCCTGTCACAACTCTCCCTTTACCTACCCACAGGAGCTGAGTGGGCTTGGGGACAGGAAGAGTTTGCTGAACCAGTAAGTATAAGCCCTTTTCTCTTTAGTGCCAGCCCTCAACTGTGGAGTGGGGGGGTCACAGACCTGGGTGGTTTGGGTCCTTCATAAGGCTAACTCCTAGCCACAGCAACCCCCATACCCAACCCCAAGGTGCATTGAGGAACGTTACAAGGCCGTGTGTCATGCTGCCAGGACCCGTTCTATCCTTTCCCTGGGCCTCGCCTGCTTCAAGCGGCAGCCAGACAAGGTATGAGCTGATCTCACCCCAATCCTAGGTGTGGCTGTGGGGTGGAGGGTAGAGAGATTCTAGGGAACATCAGATAGGAAGCATTTCTCTCCCAAATCTTTTTTTTTGACTTGATAGTTTTTTTTTTTTTATTTGAATAGGTTTATGGGGAACAGGTGGTGTTTGGTTAAATGAGTAAGTTCTTTAGTGGCAATTTCTGAGATTTTGGTGCACCTATCACCCAGTGTACACTGTGCCCAATGCGTAGTCTTTTATCCCTCACCTGCCTCCATCCTTTCCCCCCTGAGTCCCCAGAGTCCATTGTATCATTCTTAAGCTTTTGCATCCTCCTAGCTTGGCTCTCTGAAATCTTGATATAGCAGACTTCTCTTTCTCCCAGGGTGAACATTCCTATCTGGCTCAAGTGTTCAATCTCACTCTGCTGTGCATGGAGGAGTATGTCATAGAACCAAAGTCTGTGCAGTTCCTGATACAGCATGGCTTCAACTTCAACCAGCAGTATGCCCAAGGCATCCCCTACCATAAGGGCAATGACAAGGTAGGCCTCTAGCCTCCCTAGCCTTGAGTCTGCCCTTTCTGTGACTTTATTTCTTCCTACCCTAGGCTGGATGTCTGGGGAGAATCTGCTTCTTAGGGAGTATGGGGAATCACTAGTGACAGGGCTTGGGAAACAAGACTGGTATGAGGAGGGTGGGCAGCATTGGGTAAGGTAGAGAGAGAGCGTTCCAAGTGGGGAAGTCTGGGATAAGTGCCCAGCAGAAGAGGCTCCCTGGGGGACTCTGTCCTCCTCATTGACCCCTTTACTTTCATCTAGGGTGATGAGAGCCAGAGCCAGTCAGTACGGACCCTATTCCTGGAGCTAATCCGAGCCCGCCGGCCCCTGGTGCTACACAATGGCCTTATAGACTTGGTGTTCCTGTACCAGAACTTCTATGCACACCTCCCTGAGAGTCTGGGAACCTTCACCGCTGACCTGTGTGAGATGTTCCCAGCAGGCATTTATGACACCAAATATGCTGCTGAGTTTCATGCCCGTTTCGTGGCCTCCTACTTAGAATATGCCTTCCGGAAATGGTGAGGAAATGGTTGAGGGAAAGGGGTGGGGCCTGATACGAGTTTATTTCATTCACTTAAGATATTTATTGAGCTCCTACCATGTGCCCAGGCAGTGTTTTAGGTGCTGAGGATTCAGCAGTGAACAAAACAGACCACAAAACCCTGCTCTTATGGAGCTTATATGCTAGTGGACCATTACCCTCTTGCGCTGTTGCAGTGAACGGGAAAATGGGAAGCAGCGGGCAGCTGGCAGCCCACACCTTACCCTGGAGTTCTGCAACTATCCTTCCAGCATGAGGGACCATATTGATTACCGCTGCTGCCTGCCCCCAGCAACCCACCGTCCTCATCCCACCAGCATCTGTGACAACTTCTCGGTGAGAGCACCCACCTGTTTCTTGGGAGGGAAGGTTCTGATGCCTGGAGCCTCTTTCTAAGCCTCTTTCCCACCCCTAGGCTTATGGCTGGTGCCCCCTGGGACCAGTGTCCTCAGTCTCACGATATTGACCTTATCATTGACACTGATGAGGCTGCGGCAGAGGACAAGCGGCGACGGCGACGACGTAGGGAAAAACGGAAGAGGGCTTTATTGAACCTACCGGGGACACAGACCTCTGGGGAAGCTAAGGATGGTCCTCCCAAGAAGCAGGTCTGTGGGGATAGCATCAAGCCTGAAGAAACCGAGCAGGAGGTGGCTGCCGATGAAACTAGGAACCTGCCTCACTCCAAGCAAGGCAACAAAAATGACTTAGAGATGGGGATTAAGGCAGCAAGGCCTGAAATAGCTGATAGAGCTACCTCAGAAGTGCCAGGGAGCCAAGCCAGTCCTAACCCAGTGCCTGGGGATGGATTGCACCGGGCTGGTTTTGATGCCTTTATGACAGGTTATGTGATGGCCTATGTGGAAGTGAGCCAGGGACCGCAGCCCTGCAGCTCTGGACCCTGGCTCCCTGAATGCCACAATAAGGTATATTTGAGTGGCAAAGCTGTACCCCTCACAGTGGCCAAGAGCCAGTTCTCTCGTTCCTCCAAAGCCCACAATCAGAAGATGAAGCTCACTTGGGGCAGTAGCTGATGCAACTTCCACCTTGCTCTCAGGTGGAACAGAGGTATTTTGGGTCTCTCTAGCCTGAAATGTCATCCTCAACTGCTACTGAGTTTAGGGGAGGGGGAATGTCTTGACAGACATCACTGCATTGCCCTGGACCGCCTCCTTTATCCCAGTGTTTGAGGTACAAGTAAGAAGGCTGACCAGCACCTGTAACACTGACTTTATTTTTAAGTCTGAAAATGTCTTGGGAAAGTTTTACAAAAAAAAAAATCAACAGAAGCAAGTTATGAAAATATTTGACCAGCTTCATCTTTGGTTATTTCTTATTGCAGCTCTGTAAGGACAGACTGTTCCCAAAGCTCCAGCCATGGCAGGAAGGGAAGCAAATCAGTCCCTGTATAAACCATTTAACCAATTGAATGTATCACATGTTGATAAATACATAGAAGCAGGCCCTAGGGCCTACAAAACCAGCCCCACTCCCAACCACAAGGTTGAAAGTCTTATGGGGCAGAACATTAAGACTCCTTTATAAATATGAAAATAGATTAATCAACAGGAAAAGGTCTTTGAATAGGTTAGCTAAGAGCCATGACCACCACGCTGCCTTGCTGTCCCCTTGCATAGAAATGTAGTGACGTGGTCTGACCATGCAGTAAGTGCAAACAGCAATTACTCAAATGTCTTAGAATACTGGCAAGAAGCACCCCAATATTCAGGTCTGGGAAACAGCCATGACCATTACGGCCTCTTGATCAGCTCCATGTTCCACTCAGTAGCTTATATGCCCCAAGAAAAGGCAAGAGACAGACCTGGGGTGGGGAAAGAACCGGGGTAATAGCTGCCTGCCAGCTCAGCCTAGAACTAGACATCCTCTGGTCCTATCTGGGGAAGTACACTGGAGAGGGTCTGGTGGGAGGCAGACCTCCTTGCTGGATTTCAGAGGCTTGGTATCAGCTGTTGGCCCTAACTAGGAAGGCCTCTCACTGCTGCCTCCCGTCATACACAGCCAATGGGCACTGGGAGCCCAGAAGTTGAGCCTGGCTTGGCCTAGCCTGCCTGCTCTGTAGGCTCCAGGGAAGAATCAAGGCTGTGCACCTAGGGGGCCATATGGTTTCAGCTGAAGGTCCATCCCCAAGGTGAGGCAGGGACTAAACCCCCTCACCCATCCTGCTTTCCCTGGGTTTGCAGGCCTATGCCTGAGGTGGAGAAGGTGGCTGGAGTTGAGCCTGCTGGCCTTTCTTCTACCTCCATCTCCTCAGAAGCACCCGCAGGGCATGGACTGGTCCCCTGGGGCCTGGACCCAAAACCATTTTCTTCCTGGAGAATGGAGCAGTCCATAGCCTCATGGGCTTGAGCAGCTGGTAGGGCAGATGCCCGGAATGGTGGGATCTCTTTAACTCTGTACTTGAGACTACTTAGGCGTGGTGGGGGCCCATCAGATAGCGATTCTTCCCGGCCCACAAATGGACAAGNN
pathogenic
8,786
Classify the chromosome 1 variant at position 45507360 affecting gene MMACHC (metabolism of cobalamin associated C) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Cobalamin_C_disease']
GTGATGCACGCCTGTAGTCCCAGCAACTTGGGAGGCTGAGACAGGAAAATCACTTGAACCCGGGAGGTGGAGATTGCAATAAGCCGAGGCTGCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCT
GTGATGCACGCCTGTAGTCCCAGCAACTTGGGAGGCTGAGACAGGAAAATCACTTGAACCCGGGAGGTGGAGATTGCAATAAGCCGAGGCTGCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTNNNNNNNN
pathogenic
8,804
A genetic alteration at chromosome 1, position 45507396, in gene MMACHC (metabolism of cobalamin associated C)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Cobalamin_C_disease']
TGAGACAGGAAAATCACTTGAACCCGGGAGGTGGAGATTGCAATAAGCCGAGGCTGCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCT
TGAGACAGGAAAATCACTTGAACCCGGGAGGTGGAGATTGCAATAAGCCGAGGCTGCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTAACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTC
pathogenic
8,806
Gene MMACHC (metabolism of cobalamin associated C) variant at chromosome 1, position 45507451—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['Cobalamin_C_disease']
GCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTC
GCGCCATTGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCT
pathogenic
8,809
Regarding the variant at chromosome 1 and position 45507458, affecting gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Cobalamin_C_disease']
TGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCC
TGCACTCCAGCCTGGCGACAGAGTGAGAATCCGTCTCAAAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCN
pathogenic
8,812
Chromosome 1, position 45507496, gene MMACHC (metabolism of cobalamin associated C): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Cobalamin_C_disease']
AAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAG
AAAAATAAAATAAAATAAAATAAAAAAACAAAGACAGGTTCTCACTCTGTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGNNNN
pathogenic
8,814
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 45507544, gene MMACHC (metabolism of cobalamin associated C). What disease(s) is it linked to if pathogenic?
pathogenic; ['Atypical_hemolytic-uremic_syndrome', 'Cobalamin_C_disease', 'Disorders_of_Intracellular_Cobalamin_Metabolism', 'Inborn_genetic_diseases', 'METHYLMALONIC_ACIDURIA_AND_HOMOCYSTINURIA,_cblC_TYPE,_DIGENIC', 'MMACHC-related_disorder', 'Methylmalonic_acidemia_with_homocystinuria_cblC', 'Methylmalonic_aciduria_and_homocystinuria', 'likely other unspecified diseases']
GTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTT
GTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATT
pathogenic
8,816