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 |
Subsets and Splits
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