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
|
|---|---|---|---|---|---|
Does the variant impacting HNF4A (hepatocyte nuclear factor 4 alpha) on chromosome 20, position 44355804, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Maturity-onset_diabetes_of_the_young_type_1', 'Monogenic_diabetes']
|
TGGGAAATTGACATAGGGTTAGCAAACCTCCCCCACCCCCATATAAAAATATTAATACTTTTTTTTTTTCTGAGATGGAGTCTGGCTCTGTCGCCAAGGCTGCAGTGCAGTAGTGCAATCTTGGCTCACTGCAACATTTGCCTCCTAGGTTGAAACGATTCTCCTCCTTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCTCGCTGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGATTACACCGTGTTGGCCAGCCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAACTGCTGGGATTACAGGCATGAGCCACTACACCCGACCAAGAATATTAATACTTTTTTTTAAAAAATATCGAAGTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTGAGATGGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGTCCCCCTGGTTCAAACGATTCTCTTGCCTCAGCCTCCCGTTTGCCACCATGCCCGGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGCCTCAAACTCCTGACCTCGTGATCGGTGCGCCTCGGCCTCCCAAAATGCTGGGGTTACAGGCGTGAGCCACTGCACCCGGCCCCAAAATCTAACGTTTGTTATCACTGTTGTTTTAGAAAAGAAAGGACATTTTAATGCAACCCATGCCCATCTGTAGGGGCTGAAGGTCCCTCTGAGGTGATTGATAAAGCTGAAAAAAGAGACTATGGGAAGAGAAGAGGAATATTATCAATTAGCTATTTTAGAAGCAGGGCAAACTATGAGCTAGGTATTCCTATAAGGAAATGAAATAATTTACTAAAAAACATACAGCAAGAAAATAATAGAGCTGGAGTTTTCTGATTTTTCTGAGTCCAGAATTTGTTTCACTGTTCTCATTTCAGCTCTCTCTAACAGGATGAATGACCTTGATTTCAGAATCCCCAAGCAGGTGGTGAGATCCAAAACTGAGACAAAAGAAACGGGGCTGTTCCAAAAAAAAAGCTAGGTGGCAGGTGTCTAACATGCCAGGGAGCTAAAACAGAGTGTGTGAGTTTCAGCAGCAGGTTGAATTTAGAATGGGGAAGGAGACCAGAGGAGACGCCAGACAGGATGACTTTGTCCCATTGGCCTGGAGGCAGCCCCATGTTTCTCCACCCCTCATATCACTCACCAGTTTGTAATAGTATCTTTGAATGACGATCTGATTAAGGTCCGTCTCCTCCATTAGTCCACAAGTTTCGGGGGTACATCTACTTTGCTCATTTCCATATCCCCAGAGTCTAGCACAAGGCCTGGTACATAGTAGGTGCTCAATAAATATGTTAGATGAAAGGAAGATAACACCTCTATGTACTAGCAGTGAGACTCCAGGCATGCAATTTCTCTCTGTCCTTCAGTCCCTTCATCTCAAGGTTTAATTTAAATATGGTAACGCCTGTATGCAACTCCCAGCATCCAGTAGGCACTCACTAAACACAGTTCTCCACCCTCCTTTTTTCCTCTGCCCCTCCCTCGGTTTTCCCACTACTTCCTGCATGGTGACACACCCATAGTTTGGAGCCATAAAACCCAACCCAGGTTGGACTCTCACCTCTCCAGCCCCTTCTGCTCCGGCCCTGTCCTCAAATTGGGGGGCTGATGTCCCCATACACCTGGCTCTGGGTTCCCCTAACCCCAGAGTGCAGGACTAGGACCCGAGTGGACCTCAGGTCTGGCCAGGTCGCCATTGCCATGGAGACAGCAACAGTCCCCAGCCGCGGGTTCCCTAAGTGACTGGTTACTCTTTAACGTATCCACCCACCTTGGGTGATTAGAAGAATCAATAAGATAACCGGGCGGTGGCAGCTGGCCGCACTCACCGCCTTCCTGGTGGACGGGCTCCTGGTGGCTGTGCTGCTGCTGTGAGCGGGCCCCTGCTCCTCCATGCCCCCAGCTCTCCGGCTGGGTGGGCTTGGCCATGGTCAGCGTGAACGCGCCCCTCGGGGCTCCAGTGGAGAGTTCTTACGGTAAGTGGGGCTGGGGGAAGACTGGACAGGGCGGGACTGCGGTCAGCTTTGGGAGGCCATGGGACACCTCCCCGTGTGTTTCTTACGGGCCCAAAGCTCCTCCTGGAGCTCCTCTGGAAGGGCAGGAAGCCCCACGGAGGCAATGTGACCGCTTCCCTAAGCTCTCAAGCCGGGGCATGGCCTGCTTGGTGCGAGAAGTGCTGGGAGGGGCCGAGAAGCCCTGGGGCAGAGGCTTGGCTCATTTTGTCTGTCCAGAGGCCTTCCTGGGAATGCATCTCAGGGGTCTTTCCAAAACCCCACAGAGGGTGGGGCTTGGAAGCACCGTCCTGTTTCGATGCGGGGCAAATTGAGGTCCACCAGGAGAGGCTTGCTGGGCCTAGGTCACGTTGCTGGTGCATTATCAAGCTGGGCGTGGGACCGGGCAGCTCGGTCGCTCCGCACCTCCGTTGGCTCTGGATAATGGGGAGGAGGTAGAAAGCGCCGCGCAGGGTGGAGCGTTGGAAAATGAGAATATCTTGTGCGGACGTGTGAAACTCAGATGCAGGGCTAGAAAGCATGTGTTACTGAGAGTGAAAGGCTCAGGCTCACTCCTTAGGGTGACCCCCACATTGGAAGCAACCCAATGTCCCTCAGCAGAGGGAAGACGGGTAAATAAAGCGTGAGACGTCTTTACAGTGGAATGCTATCCCATTGTTCAAGGAAACAACGCACATCTGTGTGTGACAGGGAAGAACCTCTCAGTTAAATTAAGTGAAAACGGTACACTGAAGAACTGTGTAGTTGCTGATAGCGAAACGGATATAGATGTATATATGTACACACGCGTATACGTGTACATTCCACGCATAGAAAATTCGTGGAATGACACAATAAAATTGGTGACAGGTTTGTTTCTGAGGAGGGAAATTCAAGAGAATGTTTTATCTTTTGGGGACACATTTTGGATTTTTTAAAAGTTGGGTGCCTTTTATAAACCTGTTCAAATCACACACCCGCACAGAACTTGGTCTCTGGAATCCAGCAGACCTCGGGGTCTAGTTGTGACTCTGTCACACGGCTCAACATTCACGTGCCTCTTGCTTTCTTTCTGAAGTGGAGACAGGACTAGGATGTGTCTTAAGATCATGGTGGATGCCGTGGGGAACAAGGATGTAAAGCCCTTGATACCACGTGCATTGCAAAGACACAATCAACATTTATGTCATCAATTGCTGAGGACAGAGGGCCAGGGAATGACAGAATCAGGGCCTGATCTCCTGACTCTAGTCAGGAAGAATCTTCTTTGCTTTGACCCCCATCAAACAGGAATATGTGATGCACTGGAAATGGCAGAGGCTGAAGAAACCAACAGCCTGGGAACCCATCCCACACACCAGCTGTGTGACCTTGGGCAAGACATTTCCCCTCTCTGAACCTATTTCCTCATCTGTAAAATGAAGATAACAACAGGACCTATCTCCCAGAGAGCGGGGAGATTAGAGGAGATAGCATAGAGGAGATTAAGGGTGAGGCCACCCTTAATCCACAATTTTAAGACCTGGAGTATAGATGCCAATGGATGACTTGGTTGAACCTGTGGCTAGGGGAAGACATTGTCTCTCAAAGGGGCCAGACAGCTTCTGGGGAAGGACAGCCCAGGTCATAAGGCTAAGCTAGGGGTGAACAGAAGGCCCCACAGTGTCTCTTAAAGGATGATACAATAATATAACCTGACAGCCTTTCACTGTCTCCCACGTCTCTGCACCTTGTAGGATGTCCTCATGTCTCTTCATCTCTGCTCCTGTGTCATACTCATTATATAGCAAACATTCAGCAATTATTAGAATGGTTGCTTCTATCGACAGGTAGGTGGGTGAATGGATGGATGAATGGGTTAGTGAATGTTCTACTATTATCTCTCAGACAGCTGTTTCATTTTCCAAACGGCTGTCTGAGATAAATAATATTGTAATCTCCAAGGACAGAAGAAAAAACTAAGGTTCAAGATTAAAAAAAAAA
|
TGGGAAATTGACATAGGGTTAGCAAACCTCCCCCACCCCCATATAAAAATATTAATACTTTTTTTTTTTCTGAGATGGAGTCTGGCTCTGTCGCCAAGGCTGCAGTGCAGTAGTGCAATCTTGGCTCACTGCAACATTTGCCTCCTAGGTTGAAACGATTCTCCTCCTTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCTCGCTGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGATTACACCGTGTTGGCCAGCCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAACTGCTGGGATTACAGGCATGAGCCACTACACCCGACCAAGAATATTAATACTTTTTTTTAAAAAATATCGAAGTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTTGAGATGGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACCTCTGTCCCCCTGGTTCAAACGATTCTCTTGCCTCAGCCTCCCGTTTGCCACCATGCCCGGCTAATTTTTTTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGCCTCAAACTCCTGACCTCGTGATCGGTGCGCCTCGGCCTCCCAAAATGCTGGGGTTACAGGCGTGAGCCACTGCACCCGGCCCCAAAATCTAACGTTTGTTATCACTGTTGTTTTAGAAAAGAAAGGACATTTTAATGCAACCCATGCCCATCTGTAGGGGCTGAAGGTCCCTCTGAGGTGATTGATAAAGCTGAAAAAAGAGACTATGGGAAGAGAAGAGGAATATTATCAATTAGCTATTTTAGAAGCAGGGCAAACTATGAGCTAGGTATTCCTATAAGGAAATGAAATAATTTACTAAAAAACATACAGCAAGAAAATAATAGAGCTGGAGTTTTCTGATTTTTCTGAGTCCAGAATTTGTTTCACTGTTCTCATTTCAGCTCTCTCTAACAGGATGAATGACCTTGATTTCAGAATCCCCAAGCAGGTGGTGAGATCCAAAACTGAGACAAAAGAAACGGGGCTGTTCCAAAAAAAAAGCTAGGTGGCAGGTGTCTAACATGCCAGGGAGCTAAAACAGAGTGTGTGAGTTTCAGCAGCAGGTTGAATTTAGAATGGGGAAGGAGACCAGAGGAGACGCCAGACAGGATGACTTTGTCCCATTGGCCTGGAGGCAGCCCCATGTTTCTCCACCCCTCATATCACTCACCAGTTTGTAATAGTATCTTTGAATGACGATCTGATTAAGGTCCGTCTCCTCCATTAGTCCACAAGTTTCGGGGGTACATCTACTTTGCTCATTTCCATATCCCCAGAGTCTAGCACAAGGCCTGGTACATAGTAGGTGCTCAATAAATATGTTAGATGAAAGGAAGATAACACCTCTATGTACTAGCAGTGAGACTCCAGGCATGCAATTTCTCTCTGTCCTTCAGTCCCTTCATCTCAAGGTTTAATTTAAATATGGTAACGCCTGTATGCAACTCCCAGCATCCAGTAGGCACTCACTAAACACAGTTCTCCACCCTCCTTTTTTCCTCTGCCCCTCCCTCGGTTTTCCCACTACTTCCTGCATGGTGACACACCCATAGTTTGGAGCCATAAAACCCAACCCAGGTTGGACTCTCACCTCTCCAGCCCCTTCTGCTCCGGCCCTGTCCTCAAATTGGGGGGCTGATGTCCCCATACACCTGGCTCTGGGTTCCCCTAACCCCAGAGTGCAGGACTAGGACCCGAGTGGACCTCAGGTCTGGCCAGGTCGCCATTGCCATGGAGACAGCAACAGTCCCCAGCCGCGGGTTCCCTAAGTGACTGGTTACTCTTTAACGTATCCACCCACCTTGGGTGATTAGAAGAATCAATAAGATAACCGGGCGGTGGCAGCTGGCCGCACTCACCGCCTTCCTGGTGGACGGGCTCCTGGTGGCTGTGCTGCTGCTGTGAGCGGGCCCCTGCTCCTCCATGCCCCCAGCTCTCCGGCTGGGTGGGCTTGGCCTGGTCAGCGTGAACGCGCCCCTCGGGGCTCCAGTGGAGAGTTCTTACGGTAAGTGGGGCTGGGGGAAGACTGGACAGGGCGGGACTGCGGTCAGCTTTGGGAGGCCATGGGACACCTCCCCGTGTGTTTCTTACGGGCCCAAAGCTCCTCCTGGAGCTCCTCTGGAAGGGCAGGAAGCCCCACGGAGGCAATGTGACCGCTTCCCTAAGCTCTCAAGCCGGGGCATGGCCTGCTTGGTGCGAGAAGTGCTGGGAGGGGCCGAGAAGCCCTGGGGCAGAGGCTTGGCTCATTTTGTCTGTCCAGAGGCCTTCCTGGGAATGCATCTCAGGGGTCTTTCCAAAACCCCACAGAGGGTGGGGCTTGGAAGCACCGTCCTGTTTCGATGCGGGGCAAATTGAGGTCCACCAGGAGAGGCTTGCTGGGCCTAGGTCACGTTGCTGGTGCATTATCAAGCTGGGCGTGGGACCGGGCAGCTCGGTCGCTCCGCACCTCCGTTGGCTCTGGATAATGGGGAGGAGGTAGAAAGCGCCGCGCAGGGTGGAGCGTTGGAAAATGAGAATATCTTGTGCGGACGTGTGAAACTCAGATGCAGGGCTAGAAAGCATGTGTTACTGAGAGTGAAAGGCTCAGGCTCACTCCTTAGGGTGACCCCCACATTGGAAGCAACCCAATGTCCCTCAGCAGAGGGAAGACGGGTAAATAAAGCGTGAGACGTCTTTACAGTGGAATGCTATCCCATTGTTCAAGGAAACAACGCACATCTGTGTGTGACAGGGAAGAACCTCTCAGTTAAATTAAGTGAAAACGGTACACTGAAGAACTGTGTAGTTGCTGATAGCGAAACGGATATAGATGTATATATGTACACACGCGTATACGTGTACATTCCACGCATAGAAAATTCGTGGAATGACACAATAAAATTGGTGACAGGTTTGTTTCTGAGGAGGGAAATTCAAGAGAATGTTTTATCTTTTGGGGACACATTTTGGATTTTTTAAAAGTTGGGTGCCTTTTATAAACCTGTTCAAATCACACACCCGCACAGAACTTGGTCTCTGGAATCCAGCAGACCTCGGGGTCTAGTTGTGACTCTGTCACACGGCTCAACATTCACGTGCCTCTTGCTTTCTTTCTGAAGTGGAGACAGGACTAGGATGTGTCTTAAGATCATGGTGGATGCCGTGGGGAACAAGGATGTAAAGCCCTTGATACCACGTGCATTGCAAAGACACAATCAACATTTATGTCATCAATTGCTGAGGACAGAGGGCCAGGGAATGACAGAATCAGGGCCTGATCTCCTGACTCTAGTCAGGAAGAATCTTCTTTGCTTTGACCCCCATCAAACAGGAATATGTGATGCACTGGAAATGGCAGAGGCTGAAGAAACCAACAGCCTGGGAACCCATCCCACACACCAGCTGTGTGACCTTGGGCAAGACATTTCCCCTCTCTGAACCTATTTCCTCATCTGTAAAATGAAGATAACAACAGGACCTATCTCCCAGAGAGCGGGGAGATTAGAGGAGATAGCATAGAGGAGATTAAGGGTGAGGCCACCCTTAATCCACAATTTTAAGACCTGGAGTATAGATGCCAATGGATGACTTGGTTGAACCTGTGGCTAGGGGAAGACATTGTCTCTCAAAGGGGCCAGACAGCTTCTGGGGAAGGACAGCCCAGGTCATAAGGCTAAGCTAGGGGTGAACAGAAGGCCCCACAGTGTCTCTTAAAGGATGATACAATAATATAACCTGACAGCCTTTCACTGTCTCCCACGTCTCTGCACCTTGTAGGATGTCCTCATGTCTCTTCATCTCTGCTCCTGTGTCATACTCATTATATAGCAAACATTCAGCAATTATTAGAATGGTTGCTTCTATCGACAGGTAGGTGGGTGAATGGATGGATGAATGGGTTAGTGAATGTTCTACTATTATCTCTCAGACAGCTGTTTCATTTTCCAAACGGCTGTCTGAGATAAATAATATTGTAATCTCCAAGGACAGAAGAAAAAACTAAGGTTCAAGATTAAAAAAAAAAN
|
pathogenic
| 313,657 |
A mutation at chromosome position 44401297 on chromosome 20 in gene HNF4A (hepatocyte nuclear factor 4 alpha): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
benign
|
CTCAGAGTCTTGTCCTGGCTAACAGAAAACTGAGCCAGGATCATCTTTCTATTTTACAGAGGGAGAAATTGAAGCCCTGAGAAGAGACGATGTAAATAAAGTTATCGGAATAGTGACTGAGCTAGTTCCTAACCCCAGGTCTCCTGACATCAAATCTAGCCTCTCTTGTCCTCCACAACAGTTGCTCCCTCTCCCCTTTCCCTACAGGCAATAGCACTCCCCAGTCATCTCAGCTTCAGAGGTCAGATCAAGTGGACAGAATAAAGCTAAGCAGGGCAGAGAAAGGGCTTCTAGCAGTGGAAAGAACATGAAGATGCCTCCTCATACCACTCGAACACACATGCCCTGACTCCCGATTTGCTCACTCATTAATCCACCCACACATTCACTCATTCACTCACTCATTAATTCACCCACCCATTCACTCATTAATTCACCCACCCATTTGCTCACTTACTCAGTAATTTACCCTCATTCGTTCATTCACTCACTCATTCATGCATTCACTCAACTCACTCATTAATTCTCCCTGTCTCTAATTCACTCACTCCTAATTCACCCACTCATCAATTCCCCCACACACTCACTCATTAATTGGTGCTCCCACTAATTCGCCCACTCTTGCTCACAGGTGTCACCGAGGCCCTCCAACCTGCCCTTCCAGCCAGCAGTGGAGGACAGGCTCCCAGGCCTCCCAAGTCTCAGGCTTTTCTTCCTCTGCCCTCACTCTCTGCCTTCTACATCAAGACTTTACTTCCCCAGATTGATTGGCAGCCCTTGAAAATGTCTGCACAGAAGGCAATGAGGGCTGGAGGGAGTGAGAAGAACAGAGTGCACCATGAGCTTCAGACAGCCAGGACCAGCTGTGTAATTTTCAGGGCCCCGTCCAAAACAAAAATGCACAATCCCTTGTTCAAAAGTCATGATGAATTTTAGGACAACCACAGCAGAGCACTGAACCAGGAACCAGGACTTTCTAAGGGTTGGGTTGCCTGTGACTGCACTGGCGATACCCCCACAAAGCCCACTCTGAAGGTAGGAGACGGGTGGAGAGAAACAGGGGGATGGCAAGGGGGATACGAAACAGGGAGAGGGAGGAGGGGGAAGAGGATGGACGTCTACCAGGCCCCACTTGGTGCTTGATTTATGCCATCTCATTTCCTTCTCAAACCACCCTTTGAAGTTGATTGTACATTTTACAGAAAAGGAAACTGAGGCTCGGAGAGGAGAATCATTTACCCAAGGTCCCAGTTAGTAGACGGTAGGTGCCTGAATGTAAATCCAGGTCTCTGCCTGCTCCGGGAGGGGGTGGGGGTGAGGGAAACAGGAGAATGTGATGGGAAAATCCGAGATGGAGCCAGCCTGGGCCAGAAACACTGGGAGCTGTGGGAGACGGAGAGGGGCAGGGTGGGATCACAGGGAGCAGGAGCGGGGAATTGGAGGTGAATCTGGCCCTCCCAAACTTCCAGTCCATTCTGCTCCCAGGGGAACCGGGAAACTGCGGGGGAACTGGAAGGGAGCTCCCAGAACAAGGATCCAGAAGATTGGCATCTGGGGCCTGGGATTTAGGTTTCTAAATCGTGGGCCATGGGGCAGCCTTATCTCTGCAAAAGCATTGAGGGTAGAAGTCAATGATTTGGGAAGTTATTGAATTAGGGGATCTCGGAGGTAGGCTGTCAGTGCCTGATAGTATCAGTTAGAATGCCTGACTTGGGGTGACAATGGCTTGGAGGGGTGGGTGAGTCAAGGGTCAAATGAGTGCCCGTGAGTCATGATGCCTGCCTTGTACAATTGATAACTGAACATCGGTGAGTTAGGGCCCCAGCAGTTGTAATTAGCACCCCGGGTGTCAGCCAGAAACCAACAAACAGCCAAATCCCTGCAGCCCCGCCCAGCCTATCCACCGGCGGGGGACCGATTAACCATTAACCCCCACCCCTCCCCGGCAGAGCCTCCACCCCTTCACAGAGGCTAGGCCAAGACTCCCAGCAGATCTTCCCAGAGGACGGTTTGAAAGGAAGGCAGAGAGGGCACTGGGAGGAGGCAGTGGGAGGGCGGAGGGCGGGGGCCTTCGGGGTGGGCGCCCAGGGTAGGGCAGGTGGCCGCGGCGTGGAGGCAGGGAGAATGCGACTCTCCAAAACCCTCGTCGACATGGACATGGCCGACTACAGTGCTGCACTGGACCCAGCCTACACCACCCTGGAATTTGAGAATGTGCAGGTGTTGACGATGGGCAATGGTAGGTGGGGGCAGATGTGCCCAGGTGTGCCAGTGGGGGCAGGTGTGCCTGGGTCCAGGAGCAGATCTTTGGCACTCAACTTTGGGGTGGGAGGAGAATGATACAAAATGGTAGGTTGGTCCTACAGGCCAGCACAGGTGTTGCCAAGTGAAGCCCATGTGCCCAGGCACAGTGATCACAGGCATTCTGGGTGAAGGGAGGCCTGCAAGGGCCAATTTCCAGCAAAAGTCGATCCCGGCTATTCCTCCCAGGCCCTTCCAGTCCTCACTGCCTCACAGTGGCTCTGCTTGGCGCTTGGCACAGTGACGTGATGGTGAGCTCCCCCTTGGTGCCCAGCTCCAGCGATTCAGCCCAGCACGGCCCCTTCGTGAACCCCTTGGGCCTAGGTTCAGAGAGACGGCAAGGGATGTTGTATCCCTGGAGATGGTGGTTGGAGACATAACCGCATTTCTCGGTGTCTTTGGGACTTTCCTAGGGAAATGAAATTGGCACTTAGGGAAAATGGAGCTCTCAGGGAAGTTTTGCTAACTACGAAGCCAACTCAGCACTGTGTGTGTTGTGTGTGCGTTCGTGTGTGATAGTGAGTTTCCATGTAGGTTGTATGGGTGGGGTGATGCCTTCAGGAACCCATTTGCATATGTGTGTTCATTTGTCTCTGTGTGTGAGTTCTGGGTCTATTTTCCTTTGTATTCATTGAGTGGGTCTGTGTTTGTGTCTTAGGAGTTGCCCGTGTTGATCTTGCTTATGTATGTAAGTGTGTATGTGTGTGTACTTGTGTCTGTGGATGTTTGTACATGTGTGCTGTGTGTGCGGGTCATAGAGCACATGCGTTTGTGCATGCGGACCTGTTGGAGTGCCCTGTTCTTCCTGCATCTTTATCCTGTATGGGCGTTTTGTCGTGTGCCCATATTTGTACCTGCTGTGTATATATGCAGTTCCCTGTGCTGCGGGCGGGGGTCAGCGGTCTCTGGTGTGCACGACTGCACAGACCCAAATGCAGGACTCTGTTGTTGCCACTCACCAAGTGAGATTCATATCAGCAACATGTCCGTTTGTCTCTGAGCAGATTTTGTTGCCGCTGCGTCTCGCCAGATTGAGGCATCCCCTCCGACATCACTGGAGCATATCTGGAGGGGTGGACAGTTCTCCACAGGGAGGTAGGGGAAAAGAGGAGGCCCGGAAACCCCTCCTGGAGGGAAGAGCCCCATCGGTCCCAGGCCAGCCTCAGAGGAGAGGGGGCAGGCAGCTGGCTGAGGTCAGCCTGCCACCCTGCTTCCTTCTGTGTCTTGGAGCCACTCAGCCAGTATGAGGCTGCAGCTCCAGCTGAGGTCTGGAATCTTGTGGTCAGCTCAGCTAGGGTGAGGAGGCAGCTGCTGGGCACTGCTTGTTGTCAGCTCAGCAGGTGCTCACCTGCCCCTGCCGTCCAGTCACGTGTGACCTTGGGCATGTCACCTCCCCTATCCTGGCTTCTGTATCTTCTACAAAACAGGCTTCATTCCCCCAGGCCTGCTGGCTGGACGGCTTTTAGGCCTGTCTGAGGACCACGCCAGGAGCGCAAGGCAAAAACACACCAGAGATAGCAAACAAGCTGCTGCTGCACTAGGTGGAGTGTTGTGTGGCCCCACGAGGACCACTGCCCTGCCCTGGGCTGCTCCCCGCCCCCATCACTTTTTCCAAGCCCAGGAACTGTGTGCTCCTGAGGCAGAGGCCAAGCCCCTGAACTGGGAGTCCCAAAGACAAGACCACCTCCAGCTCTGGAACCAGAAAGATCTGGGCTCAAATCCGGCATAGATCCTTCCAACCTGTGTGAATGTGGCAAGGCAATTTCCTCTCTGAGCCTCAGTTTCCTCACCTATA
|
CTCAGAGTCTTGTCCTGGCTAACAGAAAACTGAGCCAGGATCATCTTTCTATTTTACAGAGGGAGAAATTGAAGCCCTGAGAAGAGACGATGTAAATAAAGTTATCGGAATAGTGACTGAGCTAGTTCCTAACCCCAGGTCTCCTGACATCAAATCTAGCCTCTCTTGTCCTCCACAACAGTTGCTCCCTCTCCCCTTTCCCTACAGGCAATAGCACTCCCCAGTCATCTCAGCTTCAGAGGTCAGATCAAGTGGACAGAATAAAGCTAAGCAGGGCAGAGAAAGGGCTTCTAGCAGTGGAAAGAACATGAAGATGCCTCCTCATACCACTCGAACACACATGCCCTGACTCCCGATTTGCTCACTCATTAATCCACCCACACATTCACTCATTCACTCACTCATTAATTCACCCACCCATTCACTCATTAATTCACCCACCCATTTGCTCACTTACTCAGTAATTTACCCTCATTCGTTCATTCACTCACTCATTCATGCATTCACTCAACTCACTCATTAATTCTCCCTGTCTCTAATTCACTCACTCCTAATTCACCCACTCATCAATTCCCCCACACACTCACTCATTAATTGGTGCTCCCACTAATTCGCCCACTCTTGCTCACAGGTGTCACCGAGGCCCTCCAACCTGCCCTTCCAGCCAGCAGTGGAGGACAGGCTCCCAGGCCTCCCAAGTCTCAGGCTTTTCTTCCTCTGCCCTCACTCTCTGCCTTCTACATCAAGACTTTACTTCCCCAGATTGATTGGCAGCCCTTGAAAATGTCTGCACAGAAGGCAATGAGGGCTGGAGGGAGTGAGAAGAACAGAGTGCACCATGAGCTTCAGACAGCCAGGACCAGCTGTGTAATTTTCAGGGCCCCGTCCAAAACAAAAATGCACAATCCCTTGTTCAAAAGTCATGATGAATTTTAGGACAACCACAGCAGAGCACTGAACCAGGAACCAGGACTTTCTAAGGGTTGGGTTGCCTGTGACTGCACTGGCGATACCCCCACAAAGCCCACTCTGAAGGTAGGAGACGGGTGGAGAGAAACAGGGGGATGGCAAGGGGGATACGAAACAGGGAGAGGGAGGAGGGGGAAGAGGATGGACGTCTACCAGGCCCCACTTGGTGCTTGATTTATGCCATCTCATTTCCTTCTCAAACCACCCTTTGAAGTTGATTGTACATTTTACAGAAAAGGAAACTGAGGCTCGGAGAGGAGAATCATTTACCCAAGGTCCCAGTTAGTAGACGGTAGGTGCCTGAATGTAAATCCAGGTCTCTGCCTGCTCCGGGAGGGGGTGGGGGTGAGGGAAACAGGAGAATGTGATGGGAAAATCCGAGATGGAGCCAGCCTGGGCCAGAAACACTGGGAGCTGTGGGAGACGGAGAGGGGCAGGGTGGGATCACAGGGAGCAGGAGCGGGGAATTGGAGGTGAATCTGGCCCTCCCAAACTTCCAGTCCATTCTGCTCCCAGGGGAACCGGGAAACTGCGGGGGAACTGGAAGGGAGCTCCCAGAACAAGGATCCAGAAGATTGGCATCTGGGGCCTGGGATTTAGGTTTCTAAATCGTGGGCCATGGGGCAGCCTTATCTCTGCAAAAGCATTGAGGGTAGAAGTCAATGATTTGGGAAGTTATTGAATTAGGGGATCTCGGAGGTAGGCTGTCAGTGCCTGATAGTATCAGTTAGAATGCCTGACTTGGGGTGACAATGGCTTGGAGGGGTGGGTGAGTCAAGGGTCAAATGAGTGCCCGTGAGTCATGATGCCTGCCTTGTACAATTGATAACTGAACATCGGTGAGTTAGGGCCCCAGCAGTTGTAATTAGCACCCCGGGTGTCAGCCAGAAACCAACAAACAGCCAAATCCCTGCAGCCCCGCCCAGCCTATCCACCGGCGGGGGACCGATTAACCATTAACCCCCACCCCTCCCCGGCAGAGCCTCCACCCCTTCACAGAGGCTAGGCCAAGACTCCCAGCAGATCTTCCCAGAGGACGGTTTGAAAGGAAGGCAGAGAGGGCACTGGGAGGAGGCAGTGGGAGGGCGGGGGCCTTCGGGGTGGGCGCCCAGGGTAGGGCAGGTGGCCGCGGCGTGGAGGCAGGGAGAATGCGACTCTCCAAAACCCTCGTCGACATGGACATGGCCGACTACAGTGCTGCACTGGACCCAGCCTACACCACCCTGGAATTTGAGAATGTGCAGGTGTTGACGATGGGCAATGGTAGGTGGGGGCAGATGTGCCCAGGTGTGCCAGTGGGGGCAGGTGTGCCTGGGTCCAGGAGCAGATCTTTGGCACTCAACTTTGGGGTGGGAGGAGAATGATACAAAATGGTAGGTTGGTCCTACAGGCCAGCACAGGTGTTGCCAAGTGAAGCCCATGTGCCCAGGCACAGTGATCACAGGCATTCTGGGTGAAGGGAGGCCTGCAAGGGCCAATTTCCAGCAAAAGTCGATCCCGGCTATTCCTCCCAGGCCCTTCCAGTCCTCACTGCCTCACAGTGGCTCTGCTTGGCGCTTGGCACAGTGACGTGATGGTGAGCTCCCCCTTGGTGCCCAGCTCCAGCGATTCAGCCCAGCACGGCCCCTTCGTGAACCCCTTGGGCCTAGGTTCAGAGAGACGGCAAGGGATGTTGTATCCCTGGAGATGGTGGTTGGAGACATAACCGCATTTCTCGGTGTCTTTGGGACTTTCCTAGGGAAATGAAATTGGCACTTAGGGAAAATGGAGCTCTCAGGGAAGTTTTGCTAACTACGAAGCCAACTCAGCACTGTGTGTGTTGTGTGTGCGTTCGTGTGTGATAGTGAGTTTCCATGTAGGTTGTATGGGTGGGGTGATGCCTTCAGGAACCCATTTGCATATGTGTGTTCATTTGTCTCTGTGTGTGAGTTCTGGGTCTATTTTCCTTTGTATTCATTGAGTGGGTCTGTGTTTGTGTCTTAGGAGTTGCCCGTGTTGATCTTGCTTATGTATGTAAGTGTGTATGTGTGTGTACTTGTGTCTGTGGATGTTTGTACATGTGTGCTGTGTGTGCGGGTCATAGAGCACATGCGTTTGTGCATGCGGACCTGTTGGAGTGCCCTGTTCTTCCTGCATCTTTATCCTGTATGGGCGTTTTGTCGTGTGCCCATATTTGTACCTGCTGTGTATATATGCAGTTCCCTGTGCTGCGGGCGGGGGTCAGCGGTCTCTGGTGTGCACGACTGCACAGACCCAAATGCAGGACTCTGTTGTTGCCACTCACCAAGTGAGATTCATATCAGCAACATGTCCGTTTGTCTCTGAGCAGATTTTGTTGCCGCTGCGTCTCGCCAGATTGAGGCATCCCCTCCGACATCACTGGAGCATATCTGGAGGGGTGGACAGTTCTCCACAGGGAGGTAGGGGAAAAGAGGAGGCCCGGAAACCCCTCCTGGAGGGAAGAGCCCCATCGGTCCCAGGCCAGCCTCAGAGGAGAGGGGGCAGGCAGCTGGCTGAGGTCAGCCTGCCACCCTGCTTCCTTCTGTGTCTTGGAGCCACTCAGCCAGTATGAGGCTGCAGCTCCAGCTGAGGTCTGGAATCTTGTGGTCAGCTCAGCTAGGGTGAGGAGGCAGCTGCTGGGCACTGCTTGTTGTCAGCTCAGCAGGTGCTCACCTGCCCCTGCCGTCCAGTCACGTGTGACCTTGGGCATGTCACCTCCCCTATCCTGGCTTCTGTATCTTCTACAAAACAGGCTTCATTCCCCCAGGCCTGCTGGCTGGACGGCTTTTAGGCCTGTCTGAGGACCACGCCAGGAGCGCAAGGCAAAAACACACCAGAGATAGCAAACAAGCTGCTGCTGCACTAGGTGGAGTGTTGTGTGGCCCCACGAGGACCACTGCCCTGCCCTGGGCTGCTCCCCGCCCCCATCACTTTTTCCAAGCCCAGGAACTGTGTGCTCCTGAGGCAGAGGCCAAGCCCCTGAACTGGGAGTCCCAAAGACAAGACCACCTCCAGCTCTGGAACCAGAAAGATCTGGGCTCAAATCCGGCATAGATCCTTCCAACCTGTGTGAATGTGGCAAGGCAATTTCCTCTCTGAGCCTCAGTTTCCTCACCTATANNNNNNN
|
benign
| 313,663 |
A mutation at chromosome position 44406107 on chromosome 20 in gene HNF4A (hepatocyte nuclear factor 4 alpha): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes']
|
GGGAGTCTGCGATGGCAGAAATGAGATGCGGCAGTGTCTGCTTGTGCAAGGAGCCTGGAAGTCCTCTGCTCCGAGAGTTTTCCTATGTGGAAAAGTTTTTATTTCATGAACACTGATATAGTGCTTACTATGTGCCAAGCACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTATGAATACACGTGTGTGTGTGTGTGTCTGTGTATGTGTGTATGTTTGTGCATGTGAGCATGTGTGTGTGGACTGTGTGTATGTGTATGTATATGTGTGGACTGTATGTGTGCACACATTTGTATATGTGTGTGTTGATGTGTTTGTATGTATGCATGTGTGTGGACTATGTGCAAGTGTGTGCAATGTATGTGGACTGTGTGCATGTGTGGACTGTGTGTATGTGTGTGCATGTGTGTGGAGCGTGTGTGTGCTTATGTGTGGACTCTGTGTTCATGTGTGTGTACTGTATGTGTACACATGTGTGTATATATGTGTGTGTGTGCGTGTGTCTGTGTGGTGTGTGGACTGTGTGGTGTGTGTGAACTGTGGTGTGTGTGTGCGTGACTGTGTGGTGTGTGTGCGCGTGTGTGTGACTGCTTGGTGTGTGTGAACTGTGGTGTGTGTGGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGGGAACTGTGTGGTGTGTGTGGACTGTGGTGTGTAAGGTGTGTGTGTGCTTGTGTGTGGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGTGGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGCGTAGCGTGTGTGCGTGTGTGTGGACTGTGTGGCACACACGCTTGCATTTTCCCGGGGGCTGACCCATTGCATTTGTCATCTTCTTCAAAGGGGTCTATCTTTGCTGAAAGATTTGCTGACAAATAAAGGGGGTTCAGCTGCTGCTATTTTTTTAAATTTGGAAACAAATTTTTTAAATTTTTTAAATTTTTTAAATTTGGAAACAGACCAGTCAAACTGCTGCCTTTTATGGTTAGAGAAAATGAGGCCCAGAAGAAATTGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAA
|
GGGAGTCTGCGATGGCAGAAATGAGATGCGGCAGTGTCTGCTTGTGCAAGGAGCCTGGAAGTCCTCTGCTCCGAGAGTTTTCCTATGTGGAAAAGTTTTTATTTCATGAACACTGATATAGTGCTTACTATGTGCCAAGCACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTATGAATACACGTGTGTGTGTGTGTGTCTGTGTATGTGTGTATGTTTGTGCATGTGAGCATGTGTGTGTGGACTGTGTGTATGTGTATGTATATGTGTGGACTGTATGTGTGCACACATTTGTATATGTGTGTGTTGATGTGTTTGTATGTATGCATGTGTGTGGACTATGTGCAAGTGTGTGCAATGTATGTGGACTGTGTGCATGTGTGGACTGTGTGTATGTGTGTGCATGTGTGTGGAGCGTGTGTGTGCTTATGTGTGGACTCTGTGTTCATGTGTGTGTACTGTATGTGTACACATGTGTGTATATATGTGTGTGTGTGCGTGTGTCTGTGTGGTGTGTGGACTGTGTGGTGTGTGTGAACTGTGGTGTGTGTGTGCGTGACTGTGTGGTGTGTGTGCGCGTGTGTGTGACTGCTTGGTGTGTGTGAACTGTGGTGTGTGTGGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGGGAACTGTGTGGTGTGTGTGGACTGTGGTGTGTAAGGTGTGTGTGTGCTTGTGTGTGGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGTGGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGCGTAGCGTGTGTGCGTGTGTGTGGACTGTGTGGCACACACGCTTGCATTTTCCCGGGGGCTGACCCATTGCATTTGTCATCTTCTTCAAAGGGGTCTATCTTTGCTGAAAGATTTGCTGACAAATAAAGGGGGTTCAGCTGCTGCTATTTTTTTAAATTTGGAAACAAATTTTTTAAATTTTTTAAATTTTTTAAATTTGGAAACAGACCAGTCAAACTGCTGCCTTTTATGGTTAGAGAAAATGAGGCCCAGAAGAAATTGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAAN
|
pathogenic
| 313,672 |
Clinically, how would you classify the variant at chromosome 20, position 44406158, gene HNF4A (hepatocyte nuclear factor 4 alpha): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Monogenic_diabetes']
|
AGCCTGGAAGTCCTCTGCTCCGAGAGTTTTCCTATGTGGAAAAGTTTTTATTTCATGAACACTGATATAGTGCTTACTATGTGCCAAGCACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTATGAATACACGTGTGTGTGTGTGTGTCTGTGTATGTGTGTATGTTTGTGCATGTGAGCATGTGTGTGTGGACTGTGTGTATGTGTATGTATATGTGTGGACTGTATGTGTGCACACATTTGTATATGTGTGTGTTGATGTGTTTGTATGTATGCATGTGTGTGGACTATGTGCAAGTGTGTGCAATGTATGTGGACTGTGTGCATGTGTGGACTGTGTGTATGTGTGTGCATGTGTGTGGAGCGTGTGTGTGCTTATGTGTGGACTCTGTGTTCATGTGTGTGTACTGTATGTGTACACATGTGTGTATATATGTGTGTGTGTGCGTGTGTCTGTGTGGTGTGTGGACTGTGTGGTGTGTGTGAACTGTGGTGTGTGTGTGCGTGACTGTGTGGTGTGTGTGCGCGTGTGTGTGACTGCTTGGTGTGTGTGAACTGTGGTGTGTGTGGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGGGAACTGTGTGGTGTGTGTGGACTGTGGTGTGTAAGGTGTGTGTGTGCTTGTGTGTGGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGTGGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGCGTAGCGTGTGTGCGTGTGTGTGGACTGTGTGGCACACACGCTTGCATTTTCCCGGGGGCTGACCCATTGCATTTGTCATCTTCTTCAAAGGGGTCTATCTTTGCTGAAAGATTTGCTGACAAATAAAGGGGGTTCAGCTGCTGCTATTTTTTTAAATTTGGAAACAAATTTTTTAAATTTTTTAAATTTTTTAAATTTGGAAACAGACCAGTCAAACTGCTGCCTTTTATGGTTAGAGAAAATGAGGCCCAGAAGAAATTGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAACCCTATATGGGAAAATGTTGTGAAAATGAAATGAGCCCAGCCCATTGAACC
|
AGCCTGGAAGTCCTCTGCTCCGAGAGTTTTCCTATGTGGAAAAGTTTTTATTTCATGAACACTGATATAGTGCTTACTATGTGCCAAGCACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTATGAATACACGTGTGTGTGTGTGTGTCTGTGTATGTGTGTATGTTTGTGCATGTGAGCATGTGTGTGTGGACTGTGTGTATGTGTATGTATATGTGTGGACTGTATGTGTGCACACATTTGTATATGTGTGTGTTGATGTGTTTGTATGTATGCATGTGTGTGGACTATGTGCAAGTGTGTGCAATGTATGTGGACTGTGTGCATGTGTGGACTGTGTGTATGTGTGTGCATGTGTGTGGAGCGTGTGTGTGCTTATGTGTGGACTCTGTGTTCATGTGTGTGTACTGTATGTGTACACATGTGTGTATATATGTGTGTGTGTGCGTGTGTCTGTGTGGTGTGTGGACTGTGTGGTGTGTGTGAACTGTGGTGTGTGTGTGCGTGACTGTGTGGTGTGTGTGCGCGTGTGTGTGACTGCTTGGTGTGTGTGAACTGTGGTGTGTGTGGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGGGAACTGTGTGGTGTGTGTGGACTGTGGTGTGTAAGGTGTGTGTGTGCTTGTGTGTGGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGTGGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGCGTAGCGTGTGTGCGTGTGTGTGGACTGTGTGGCACACACGCTTGCATTTTCCCGGGGGCTGACCCATTGCATTTGTCATCTTCTTCAAAGGGGTCTATCTTTGCTGAAAGATTTGCTGACAAATAAAGGGGGTTCAGCTGCTGCTATTTTTTTAAATTTGGAAACAAATTTTTTAAATTTTTTAAATTTTTTAAATTTGGAAACAGACCAGTCAAACTGCTGCCTTTTATGGTTAGAGAAAATGAGGCCCAGAAGAAATTGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAACCCTATATGGGAAAATGTTGTGAAAATGAAATGAGCCCAGCCCATTGAAC
|
pathogenic
| 313,680 |
The mutation in gene HNF4A (hepatocyte nuclear factor 4 alpha) at chromosome 20, position 44406191—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Monogenic_diabetes']
|
ATGTGGAAAAGTTTTTATTTCATGAACACTGATATAGTGCTTACTATGTGCCAAGCACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTATGAATACACGTGTGTGTGTGTGTGTCTGTGTATGTGTGTATGTTTGTGCATGTGAGCATGTGTGTGTGGACTGTGTGTATGTGTATGTATATGTGTGGACTGTATGTGTGCACACATTTGTATATGTGTGTGTTGATGTGTTTGTATGTATGCATGTGTGTGGACTATGTGCAAGTGTGTGCAATGTATGTGGACTGTGTGCATGTGTGGACTGTGTGTATGTGTGTGCATGTGTGTGGAGCGTGTGTGTGCTTATGTGTGGACTCTGTGTTCATGTGTGTGTACTGTATGTGTACACATGTGTGTATATATGTGTGTGTGTGCGTGTGTCTGTGTGGTGTGTGGACTGTGTGGTGTGTGTGAACTGTGGTGTGTGTGTGCGTGACTGTGTGGTGTGTGTGCGCGTGTGTGTGACTGCTTGGTGTGTGTGAACTGTGGTGTGTGTGGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGGGAACTGTGTGGTGTGTGTGGACTGTGGTGTGTAAGGTGTGTGTGTGCTTGTGTGTGGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGTGGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGCGTAGCGTGTGTGCGTGTGTGTGGACTGTGTGGCACACACGCTTGCATTTTCCCGGGGGCTGACCCATTGCATTTGTCATCTTCTTCAAAGGGGTCTATCTTTGCTGAAAGATTTGCTGACAAATAAAGGGGGTTCAGCTGCTGCTATTTTTTTAAATTTGGAAACAAATTTTTTAAATTTTTTAAATTTTTTAAATTTGGAAACAGACCAGTCAAACTGCTGCCTTTTATGGTTAGAGAAAATGAGGCCCAGAAGAAATTGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAACCCTATATGGGAAAATGTTGTGAAAATGAAATGAGCCCAGCCCATTGAACCTATTACAATTCCTCCCTTTTTGTGGATGAAGGA
|
ATGTGGAAAAGTTTTTATTTCATGAACACTGATATAGTGCTTACTATGTGCCAAGCACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTATGAATACACGTGTGTGTGTGTGTGTCTGTGTATGTGTGTATGTTTGTGCATGTGAGCATGTGTGTGTGGACTGTGTGTATGTGTATGTATATGTGTGGACTGTATGTGTGCACACATTTGTATATGTGTGTGTTGATGTGTTTGTATGTATGCATGTGTGTGGACTATGTGCAAGTGTGTGCAATGTATGTGGACTGTGTGCATGTGTGGACTGTGTGTATGTGTGTGCATGTGTGTGGAGCGTGTGTGTGCTTATGTGTGGACTCTGTGTTCATGTGTGTGTACTGTATGTGTACACATGTGTGTATATATGTGTGTGTGTGCGTGTGTCTGTGTGGTGTGTGGACTGTGTGGTGTGTGTGAACTGTGGTGTGTGTGTGCGTGACTGTGTGGTGTGTGTGCGCGTGTGTGTGACTGCTTGGTGTGTGTGAACTGTGGTGTGTGTGGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGGGAACTGTGTGGTGTGTGTGGACTGTGGTGTGTAAGGTGTGTGTGTGCTTGTGTGTGGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGTGGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGCGTAGCGTGTGTGCGTGTGTGTGGACTGTGTGGCACACACGCTTGCATTTTCCCGGGGGCTGACCCATTGCATTTGTCATCTTCTTCAAAGGGGTCTATCTTTGCTGAAAGATTTGCTGACAAATAAAGGGGGTTCAGCTGCTGCTATTTTTTTAAATTTGGAAACAAATTTTTTAAATTTTTTAAATTTTTTAAATTTGGAAACAGACCAGTCAAACTGCTGCCTTTTATGGTTAGAGAAAATGAGGCCCAGAAGAAATTGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAACCCTATATGGGAAAATGTTGTGAAAATGAAATGAGCCCAGCCCATTGAACCTATTACAATTCCTCCCTTTTTGTGGATGAAGGAN
|
pathogenic
| 313,681 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 44406246, gene HNF4A (hepatocyte nuclear factor 4 alpha). What disease(s) is it linked to if pathogenic?
|
benign
|
CACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTATGAATACACGTGTGTGTGTGTGTGTCTGTGTATGTGTGTATGTTTGTGCATGTGAGCATGTGTGTGTGGACTGTGTGTATGTGTATGTATATGTGTGGACTGTATGTGTGCACACATTTGTATATGTGTGTGTTGATGTGTTTGTATGTATGCATGTGTGTGGACTATGTGCAAGTGTGTGCAATGTATGTGGACTGTGTGCATGTGTGGACTGTGTGTATGTGTGTGCATGTGTGTGGAGCGTGTGTGTGCTTATGTGTGGACTCTGTGTTCATGTGTGTGTACTGTATGTGTACACATGTGTGTATATATGTGTGTGTGTGCGTGTGTCTGTGTGGTGTGTGGACTGTGTGGTGTGTGTGAACTGTGGTGTGTGTGTGCGTGACTGTGTGGTGTGTGTGCGCGTGTGTGTGACTGCTTGGTGTGTGTGAACTGTGGTGTGTGTGGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGGGAACTGTGTGGTGTGTGTGGACTGTGGTGTGTAAGGTGTGTGTGTGCTTGTGTGTGGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGTGGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGCGTAGCGTGTGTGCGTGTGTGTGGACTGTGTGGCACACACGCTTGCATTTTCCCGGGGGCTGACCCATTGCATTTGTCATCTTCTTCAAAGGGGTCTATCTTTGCTGAAAGATTTGCTGACAAATAAAGGGGGTTCAGCTGCTGCTATTTTTTTAAATTTGGAAACAAATTTTTTAAATTTTTTAAATTTTTTAAATTTGGAAACAGACCAGTCAAACTGCTGCCTTTTATGGTTAGAGAAAATGAGGCCCAGAAGAAATTGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAACCCTATATGGGAAAATGTTGTGAAAATGAAATGAGCCCAGCCCATTGAACCTATTACAATTCCTCCCTTTTTGTGGATGAAGGAACTGAGGCCCACAATGGTTAAGCAACTTGCCTAGGGCCCCACAACTGATCCTTGG
|
CACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTATGAATACACGTGTGTGTGTGTGTGTCTGTGTATGTGTGTATGTTTGTGCATGTGAGCATGTGTGTGTGGACTGTGTGTATGTGTATGTATATGTGTGGACTGTATGTGTGCACACATTTGTATATGTGTGTGTTGATGTGTTTGTATGTATGCATGTGTGTGGACTATGTGCAAGTGTGTGCAATGTATGTGGACTGTGTGCATGTGTGGACTGTGTGTATGTGTGTGCATGTGTGTGGAGCGTGTGTGTGCTTATGTGTGGACTCTGTGTTCATGTGTGTGTACTGTATGTGTACACATGTGTGTATATATGTGTGTGTGTGCGTGTGTCTGTGTGGTGTGTGGACTGTGTGGTGTGTGTGAACTGTGGTGTGTGTGTGCGTGACTGTGTGGTGTGTGTGCGCGTGTGTGTGACTGCTTGGTGTGTGTGAACTGTGGTGTGTGTGGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGGGAACTGTGTGGTGTGTGTGGACTGTGGTGTGTAAGGTGTGTGTGTGCTTGTGTGTGGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGTGGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGCGTAGCGTGTGTGCGTGTGTGTGGACTGTGTGGCACACACGCTTGCATTTTCCCGGGGGCTGACCCATTGCATTTGTCATCTTCTTCAAAGGGGTCTATCTTTGCTGAAAGATTTGCTGACAAATAAAGGGGGTTCAGCTGCTGCTATTTTTTTAAATTTGGAAACAAATTTTTTAAATTTTTTAAATTTTTTAAATTTGGAAACAGACCAGTCAAACTGCTGCCTTTTATGGTTAGAGAAAATGAGGCCCAGAAGAAATTGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAACCCTATATGGGAAAATGTTGTGAAAATGAAATGAGCCCAGCCCATTGAACCTATTACAATTCCTCCCTTTTTGTGGATGAAGGAACTGAGGCCCACAATGGTTAAGCAACTTGCCTAGGGCCCCACAACTGATCCTTG
|
benign
| 313,690 |
A genetic alteration at chromosome 20, position 44407411, in gene HNF4A (hepatocyte nuclear factor 4 alpha)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Monogenic_diabetes']
|
TGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAACCCTATATGGGAAAATGTTGTGAAAATGAAATGAGCCCAGCCCATTGAACCTATTACAATTCCTCCCTTTTTGTGGATGAAGGAACTGAGGCCCACAATGGTTAAGCAACTTGCCTAGGGCCCCACAACTGATCCTTGGAAGATCTGAAGTCCCAGAGCTTCTGCTATTTGGACCACACTTCAGCACTGTCTATTATTTTATGCTCTCCAGATACCAGGGACATTTAAAATTGTTTTCAGCCCAAGCAAGGGAAGCAAAAATCTTTTAACTGCTTTAAAGTAACTTGAGGCCAGGCGCAGTGAATCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAAATCATTTGAGGTCAAGAGTTCGAGACCATCCTGACCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCTAGCTACTCGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCAAGAGGAGGCGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGACTGGGCAAGACAGCGAGACTCTCTCAAAAAAAATAAAAAAGTAACGAGTTCATTTTCGAATCTCTTCATTTCCTGCTCCTCTAAACTCAACCTTTCCCAGCTCTGCGACTAGTCCCAGACCTTCCCTTCTAGCCCACAGTTGTGCCGTACCAGCCAAACCTTGGTCTAGTCCTGCTAGTTCGGTACAAACACCCCTCACCCCCATCACCCCAGCACACCCCAGAAGCAGGAACGTAGGACCCAGCTTGCTCCAGGGCCCACTGAGAAGGAGGGGAGGGGAGGCTTTGGTAGACTCTCTTTCCCCTGTATCTGCTCCTGGCCCCCTGTTTTCTCTGCCCCCTCCCTTGGAAATATCTTCTATGTCTCATCCTTATGGGACCTTAGTCTGGGCTCATGAGCTGTCTTGGAAAATCTGGGCTTGCTGATCCCGATGCAGGAGTGGGTGGTCCCCAAGGCCTGCTCTGAACGCTGCAATTCTAACATCTAGATATCAGTGGTTCTCCAAGGGCAAGAGGGGCTTTTTAAGCTGCAAATACTCCCTCCTCTCCCAAACCCAGTTTTCAATGGGGTTAAGCCTGTCTCATCCACTTCAACTTCCATTTTGTGGACTGGGAAAGATTATGAATGGGAACCTGATGCATGTGTGAACAGTTGGAGGCAAGAAAAAGATTGAGAACTACAGTCTAAGGTTCCAACATTTCTGTGGTTGTATTAGTCAGTGATTCCATTATCCCAAAAGCCTAAGATTTTAGGCACTAT
|
TGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAACCCTATATGGGAAAATGTTGTGAAAATGAAATGAGCCCAGCCCATTGAACCTATTACAATTCCTCCCTTTTTGTGGATGAAGGAACTGAGGCCCACAATGGTTAAGCAACTTGCCTAGGGCCCCACAACTGATCCTTGGAAGATCTGAAGTCCCAGAGCTTCTGCTATTTGGACCACACTTCAGCACTGTCTATTATTTTATGCTCTCCAGATACCAGGGACATTTAAAATTGTTTTCAGCCCAAGCAAGGGAAGCAAAAATCTTTTAACTGCTTTAAAGTAACTTGAGGCCAGGCGCAGTGAATCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAAATCATTTGAGGTCAAGAGTTCGAGACCATCCTGACCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCTAGCTACTCGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCAAGAGGAGGCGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGACTGGGCAAGACAGCGAGACTCTCTCAAAAAAAATAAAAAAGTAACGAGTTCATTTTCGAATCTCTTCATTTCCTGCTCCTCTAAACTCAACCTTTCCCAGCTCTGCGACTAGTCCCAGACCTTCCCTTCTAGCCCACAGTTGTGCCGTACCAGCCAAACCTTGGTCTAGTCCTGCTAGTTCGGTACAAACACCCCTCACCCCCATCACCCCAGCACACCCCAGAAGCAGGAACGTAGGACCCAGCTTGCTCCAGGGCCCACTGAGAAGGAGGGGAGGGGAGGCTTTGGTAGACTCTCTTTCCCCTGTATCTGCTCCTGGCCCCCTGTTTTCTCTGCCCCCTCCCTTGGAAATATCTTCTATGTCTCATCCTTATGGGACCTTAGTCTGGGCTCATGAGCTGTCTTGGAAAATCTGGGCTTGCTGATCCCGATGCAGGAGTGGGTGGTCCCCAAGGCCTGCTCTGAACGCTGCAATTCTAACATCTAGATATCAGTGGTTCTCCAAGGGCAAGAGGGGCTTTTTAAGCTGCAAATACTCCCTCCTCTCCCAAACCCAGTTTTCAATGGGGTTAAGCCTGTCTCATCCACTTCAACTTCCATTTTGTGGACTGGGAAAGATTATGAATGGGAACCTGATGCATGTGTGAACAGTTGGAGGCAAGAAAAAGATTGAGAACTACAGTCTAAGGTTCCAACATTTCTGTGGTTGTATTAGTCAGTGATTCCATTATCCCAAAAGCCTAAGATTTTAGGCACTATNN
|
pathogenic
| 313,697 |
Variant at chromosome 20, position 44407437, gene HNF4A (hepatocyte nuclear factor 4 alpha): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Maturity-onset_diabetes_of_the_young_type_1', 'Monogenic_diabetes']
|
AGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAACCCTATATGGGAAAATGTTGTGAAAATGAAATGAGCCCAGCCCATTGAACCTATTACAATTCCTCCCTTTTTGTGGATGAAGGAACTGAGGCCCACAATGGTTAAGCAACTTGCCTAGGGCCCCACAACTGATCCTTGGAAGATCTGAAGTCCCAGAGCTTCTGCTATTTGGACCACACTTCAGCACTGTCTATTATTTTATGCTCTCCAGATACCAGGGACATTTAAAATTGTTTTCAGCCCAAGCAAGGGAAGCAAAAATCTTTTAACTGCTTTAAAGTAACTTGAGGCCAGGCGCAGTGAATCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAAATCATTTGAGGTCAAGAGTTCGAGACCATCCTGACCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCTAGCTACTCGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCAAGAGGAGGCGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGACTGGGCAAGACAGCGAGACTCTCTCAAAAAAAATAAAAAAGTAACGAGTTCATTTTCGAATCTCTTCATTTCCTGCTCCTCTAAACTCAACCTTTCCCAGCTCTGCGACTAGTCCCAGACCTTCCCTTCTAGCCCACAGTTGTGCCGTACCAGCCAAACCTTGGTCTAGTCCTGCTAGTTCGGTACAAACACCCCTCACCCCCATCACCCCAGCACACCCCAGAAGCAGGAACGTAGGACCCAGCTTGCTCCAGGGCCCACTGAGAAGGAGGGGAGGGGAGGCTTTGGTAGACTCTCTTTCCCCTGTATCTGCTCCTGGCCCCCTGTTTTCTCTGCCCCCTCCCTTGGAAATATCTTCTATGTCTCATCCTTATGGGACCTTAGTCTGGGCTCATGAGCTGTCTTGGAAAATCTGGGCTTGCTGATCCCGATGCAGGAGTGGGTGGTCCCCAAGGCCTGCTCTGAACGCTGCAATTCTAACATCTAGATATCAGTGGTTCTCCAAGGGCAAGAGGGGCTTTTTAAGCTGCAAATACTCCCTCCTCTCCCAAACCCAGTTTTCAATGGGGTTAAGCCTGTCTCATCCACTTCAACTTCCATTTTGTGGACTGGGAAAGATTATGAATGGGAACCTGATGCATGTGTGAACAGTTGGAGGCAAGAAAAAGATTGAGAACTACAGTCTAAGGTTCCAACATTTCTGTGGTTGTATTAGTCAGTGATTCCATTATCCCAAAAGCCTAAGATTTTAGGCACTATGATTCCTCATAGGTGTCATCCAGAGG
|
AGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGGGGAATGTTTCTCCCTTCCACAGCCCCCTTGCGAGTTAGGAGGCCGGCTCCCACCCCAGAAGGTGGCCAGGTTTTCATGCCTTCCTAGAGAAAGCTGGGGCTCGTGGCCTCCACCACAGGAAGACGCAGACCCTCAGAAACAAGTCTGTGAAGTCACAACCAGCCCCAGTTTACAGATGTGAAACTGAAGCTCCAAAAAGTCAGGAGGTCACTGAGTGGGGAGGTGATGGAGTGGGAACAGCCCCCAGATCTGGCTGAGGCCGAAGCCCTGGAGAGATCCCCGCAAGGCTCCCTTAGATGCCTGACATTCTGTTCTTCCTGAAGCCTCACTCCCTTCTCTCCTGGCGCAGACACGTCCCCATCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGCTTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAGGTGAGGAGCCTCAATTTCTTCAGCTGGGAAATGGGCACACTTGGGCTCATGGCCCCAAGGTCTGTCTTCTCCCTGAGTGGGTAGGTCCCAGAGACAGCTGCCCTTCAGGGCCTTCAAGGCTCTTCTGGTTTTGTAAAAGACTTTGTGAATCCAAGAAGAGCATCTATTCTAGGAACCACATTTACTGATCATCAAGCTACTGGCTGCCGTTTATTGAGCTCTTATCATATGCCAGGCACAATACTAAGTCTTTGTGTGTATTTACCCATCCCCTTGAGCCCATTGTTGTTTTTCCCATTCCATGGGGCCTCTCCTGAAGCCTCAGTAGATGAGCCCGTCTTCCAGTCTGGTGCTGTTTTTGGGACAAATAGGAGATTGACCCCAGGCCGTTCCACCTACCCCAGGGGCTTCCACCAACCCCAAAGTCTTCCCAAGGCCTTGGAGAGCCCTCTTTCGAAAGCATCTCCTGTTCTGGGTAATGACAATAATAAAATCATAGCAGCTGTCAATTGCGAGCACTTGTCATGTACAAAGACTGTGCCCCATCGGCGCATGACTTCATTTCACCTGTCAACACCCCTGTGAGATGGTTACTGTTGTTATTCCCATTTTATAGAGGAGGAAGCTGTGGCTTGGAGGGCTAGGCATTTGCCCAAGGTCAACCAGCTTGAATCACTGGCAGAGCCAGGGTTAACATTCAGGGCCCCACCCATCACCACGGTGTGGCACTGCCTCTACTTCCTATCCCCCTCCAGAGAGAGGCTTATGTGAACCGAGTATTAACTCTGAGCCATAACCAGGAGCCTGCTATGGGTTCTGAGCTTTTATAGGATGTGGTGGAAATAGCAGGGCTCTGGTACTCCAGAGGTCAAGGTTCCCAACTCAGCTCTAACACCAACCAGCAGAGCGACCCAGGACCACATGTTGCCTCTCTGAGCCTCAGTTTTCCCATGTTTAGCAGGACAGGACTGGGCTCTTAGAGAGTTCATAGCACCTTTCCAGCTCCTGGTGGGTTCAAGAGAGAACTCCCGGGATGAAGAGATGAGAGCACTGAGGTTGGGGGGTCAACTGGATAGCCAGGGCCCTAGTTCTGTCCTAAGAGGAGGAAGTTGTGTCTTCTCCATCCAACCATCCAAAGCCCTCCCCAGATTTAGCCGGCAGTGCGTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCACCTCAAGAAATGCTTCCGGGCTGGCATGAAGAAGGAAGGTGAGCCTCGGCCCTCCCCGCCCCACCACCACTGCCCCACCTGCACCCACAGCTCCCCGACAGTCATTTACAACTGTAGCCACACTTTATGACTCAGTGGCAGGCCCCAGGGTGACTGGCTAATGGCTGAGAAGAGGGAGGGCCTGGAAATCTGACCATAGGGAGCGGCTGGGCTTGGTCTTGAGAAAGATTCAGAGAGATAAGCTCCCACTCTTGGCTCCTCAGGCTCCCAGCAACCACCACCCCTGCCTGCCTGTCTGCGCCACCACAAAGCAGCCACGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTAATATAATATTTCGAACGTTAGGACAAGCATAGAGAATGATATTGCAAACATCTGAGTACTCACTATCCCAACTTTACAAAAGGGACAGCCAGAGGAGCCCGATGCCTGAGCTTCCGGTCCCAGGGACAAATGCCCCAGTTCCCTTAGTATTCATTCGTGGGTATCACGTGATCTCCAAAGTCTTCACATTCTAGAAAATGGGAACAAGACCCCAGACCCATCCTGGACAAAGGAGGAGAAGACCAGAGCACAACATTTATTAAGGTCTTGCCAGGCTTCCTGCTACCAGCAGGTATCAGTCACTGGGCTGTGCTTTTTCCACACTTCAGTAGGTTGGGTTCATTTCATTTTCATGACAACCCTATATGGGAAAATGTTGTGAAAATGAAATGAGCCCAGCCCATTGAACCTATTACAATTCCTCCCTTTTTGTGGATGAAGGAACTGAGGCCCACAATGGTTAAGCAACTTGCCTAGGGCCCCACAACTGATCCTTGGAAGATCTGAAGTCCCAGAGCTTCTGCTATTTGGACCACACTTCAGCACTGTCTATTATTTTATGCTCTCCAGATACCAGGGACATTTAAAATTGTTTTCAGCCCAAGCAAGGGAAGCAAAAATCTTTTAACTGCTTTAAAGTAACTTGAGGCCAGGCGCAGTGAATCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAAATCATTTGAGGTCAAGAGTTCGAGACCATCCTGACCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGTGCATGCCTGTAGTCCTAGCTACTCGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCAAGAGGAGGCGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGACTGGGCAAGACAGCGAGACTCTCTCAAAAAAAATAAAAAAGTAACGAGTTCATTTTCGAATCTCTTCATTTCCTGCTCCTCTAAACTCAACCTTTCCCAGCTCTGCGACTAGTCCCAGACCTTCCCTTCTAGCCCACAGTTGTGCCGTACCAGCCAAACCTTGGTCTAGTCCTGCTAGTTCGGTACAAACACCCCTCACCCCCATCACCCCAGCACACCCCAGAAGCAGGAACGTAGGACCCAGCTTGCTCCAGGGCCCACTGAGAAGGAGGGGAGGGGAGGCTTTGGTAGACTCTCTTTCCCCTGTATCTGCTCCTGGCCCCCTGTTTTCTCTGCCCCCTCCCTTGGAAATATCTTCTATGTCTCATCCTTATGGGACCTTAGTCTGGGCTCATGAGCTGTCTTGGAAAATCTGGGCTTGCTGATCCCGATGCAGGAGTGGGTGGTCCCCAAGGCCTGCTCTGAACGCTGCAATTCTAACATCTAGATATCAGTGGTTCTCCAAGGGCAAGAGGGGCTTTTTAAGCTGCAAATACTCCCTCCTCTCCCAAACCCAGTTTTCAATGGGGTTAAGCCTGTCTCATCCACTTCAACTTCCATTTTGTGGACTGGGAAAGATTATGAATGGGAACCTGATGCATGTGTGAACAGTTGGAGGCAAGAAAAAGATTGAGAACTACAGTCTAAGGTTCCAACATTTCTGTGGTTGTATTAGTCAGTGATTCCATTATCCCAAAAGCCTAAGATTTTAGGCACTATGATTCCTCATAGGTGTCATCCAGAGGN
|
pathogenic
| 313,702 |
Evaluate the clinical significance of the mutation at chromosome 20, position 44413792 in gene HNF4A (hepatocyte nuclear factor 4 alpha): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Monogenic_diabetes']
|
GGAGAAATAGGGTTCTTATAAGAATTAGAGTTTATGACCAGGTGTGGTGCCTCGCACCTGTAATCCCAGCATTTTGTGAGGCTGAGTGGATCACTTAAAGCCAGGTTTTCGAGACCAGCCTGGGCAACCTAATGAGACCCCGTCTCTCAAAAAAAAAAAAAAATTTAGCCAGGCGTGGTGGCACACGCCTATAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTATGATTGCACCACTGCAGTCCAGCCTGGGCAACAAAATGAGACCCCATCTCGAAAAAAAAAAAGAAAAAGAATTAGAGCTTGTCTCTTCCAATGCCTTCGTTCTCTCACTGCACAAATATTCATTGAGTACCTACTGTGAACCAGGCCCTGTTCTGGTGGCTGGGACTACAGCAGTGAACTAGAGGGATGGAGTTTTGGCCTTCTGAAGCTTTCCTTCTCAGAGAGAGACAGATAGTAAAGGAAGTAACAAATAATTCTACAATAAGTGACTTGAAGAAAAATAAAGCATGGGGGGCAGGGCCAGGGTGGGAGTCATGTTGTGTTAGACAGGGTGGCTGGAGAGGGTGTCTGAAAGGCGACATTTGTGCAGAGGCAGGAGTGAAATGAAGATGCTGCTGCGCTGTGCAGGAAAGGGAACCCCAGGCAGTGACCACAGCAGCCTACAAGCGTGCGGATGCGTCCAGGTGGGGAGGCGGGTTTTCGCGGACAGAGTGTGTAGGGGGAAGCCGGTAAAAGGTGCGATCCGAGAGGAGAGGAAGGGCCCTGGGGACTTGTGAGGTTGGAAGGCACTGGTTTTGAGCAGCAGGCGACATGACTTGAACGGATCCCTCTGTCTCTGAGAGGAACACAGACTGCAGGCGCAAGGCAGAAGCAGAGCCCAGGAGGAGGCTGATCTAATCCAGGAGAGACAGCGGGCCTGGGAGCAGGGAGGGAGCAGCAGGTCTGTTTGTCAGGATCACGACAGCACTGGGGTGTGAGGGGAAGCCAAGGAAGGTGGCCAGGCTTGATGCCAGTCCCTGAGACGAGAAAGAGTGCAGGGAGCCGGCTGGCAGGGAAATGCCTACGGGTAGGGAAACTGAGCCCCAGAGAGAGGCTGCGATTGCCACCGGCACACAGAGTGGCAGGTTCCAGACAGGAAGCCGGGTCTGGTGCAGCTTCAACCTCCCTCCTTTCTGAATCAGCCAAGCCTCATTCCACAGTGAGGCCTCTTGGACTCCAAGGGCTATCCCATCCACTGTCGGGATGGTGGAAGGATCATCTTCTATCTCAGGCCAGGACTGACCCAGATGGGAGCAGGCAGTGGAGCCTGGGGCCCCGGTGGGCGTAGGCTCCAGATCCCTCAGTGCCTGGAACAGAGCAGCAGTGGGAGGGAGGGAGACAGCGCCTGGCCTTGCTGATGCTGAGGTTAGTCTGGAGTACATGCAGCTCCTGCTGATGGACAAAACCATCAAGGCAGTTGGAGCCCCCAGATCCTCTTGTTCAGGAATCCCCAGGCCATCTCCTTGTCACCCAGAGTAATTTGTTTTGCTTGCTTTACTCACTTTCATTTGGAAAGAAAGGGACCCTTTTGTAGACCAGAGCTTGAACATCTTTAAGCTAGTCAGATCCCCTCCTCAATGCTCAAGACCAATTTTAAACCCATAGCCGAGTCTTCACTGTCTTGCGCGCCCCTGCTGATGGGTGGATCACTCTTATAGCCTCTCCATTGTGTTGGGGGCAGTTGTGATATGTGGAAAGTTCTTCCACCAGCTGAGTTAGAGGCCATCTCCCCTCATTCCACATGCTGATGTGGGCCTGTTCTCTGGACACCCCCCACCTCCTGCTCCCACTCCTCATCAGTCACAGACACCCCCACCCCCTACTCCATCCCTGTTCTCCCTCCTCACCTCTCTGTGCCTCCTCACAGCCGTCCAGAATGAGCGGGACCGGATCAGCACTCGAAGGTCAAGCTATGAGGACAGCAGCCTGCCCTCCATCAATGCGCTCCTGCAGGCGGAGGTCCTGTCCCGACAGGTACCGGGGTGATCCTGCCACCCACCCAGGGATCCCCCACACTACAGAGGAGCTCACCTCCTCCACCTCCATTCTCCCCAGCCAGGCCCTGGAGCAGCTGACGGGAGGGGCCTCAGATATTACAGAAGGGACACTGAGTCCGGTTTCACATGGCCCAGTTTGCAGCAAGGGCAGGAATCGAACCTGGCGCCCTGGGGCACTTTCTAATTCATCCTACTGCCTGCATCCCACAGGCCAAGCAGAGTCTTCACCTTCACTGAGGGCCTGCGATCAGCTCAGCTCCGAGAGAACAGAGCAGTGGCTCAGTGGAGAGAGGTGGCAAAGTGGGGCCCAGCCCTTCCCTTGCTGAGTGACCTTGGGCAAGTCACAGCACCTCTCTGAGCCATGGTTGCCTCATTGTCAGAAAAGGATGATGATTTTTTGCCCTGCTTCTCCTCTAAGGCTGACAGACTCCTTGGGGCTCTAAAGCTGACAGAGGAGGGGGCAGGGGGCAGGTAACAGGTGAAGGCACAGAGGGAGCCCTTCTCCCTCATCCCTGCCTCCTCCCTCCCTCCGTTTTTACCCTGAGCTTCCTTCAGAGCTGGAGGGCACCCACTATCCAGCCCCCTCCCCACATCTGATTCCAGGGAGGGGGCTCTGTGCAGGGGACAGAGAGTGCGGGAGGGCCCGGACATCTCCAGCATTTTCTTCCCTGTATCTCTCGAAGATCACCTCCCCCGTCTCCGGGATCAACGGCGACATTCGGGCGAAGAAGATTGCCAGCATCGCAGATGTGTGTGAGTCCATGAAGGAGCAGCTGCTGGTTCTCGTTGAGTGGGCCAAGTACATCCCAGCTTTCTGCGAGCTCCCCCTGGACGACCAGGTGAGGATGGGCGTGGATGGTGGGCAGTAGTGGGCAGTGGGCGGGGCAGCCAGGGGGCTGCTGGCCCACCTGGGATATAGCCGTGGACTGGCTTGATTTTATTTTATTTAACAAAATATGTAGTGCACACACGTGTCTGAAACTTTAAATCACCTTACAAATATTAACTCAGTTAGCTCCTCCAACAACTCTATGAGGTAGGTACTAAGGTACTATTATTACTGCCATCTCATAGGTGAGGAGATTGGGGCACAGAGAGGTTAAGTAACCTGCTCAAGGTCACATAGCTACTATCCAGCATAGCTGGGATTAGAACCTGGCAGGAAGCTCCAAAGTCCAAGCTCCTGACCATTGTACCTGAGGCTCTCCCAGGGGGATGTTGACAGGGACCCTAGGACAGGGATCAGGAGATTTTGGCTTAAGCTATGGCTCTAAGACTGGTTGTCTGCCTAATCCTGGGCAAATGAGTTCCTCTCTCTGAGCCTCAGTGTTCTCTTATCTGTAAAGTGGAAATGATAATATCCACTTTAGAGTGTGGTTGGGAGGATTGAGGACATTGGTGTCTGAAAAGTACAAAAATCAGGTGATGGGGCAAGCTGCACAGTGGCCAGACCAGAGCTGGTCTCCCTAAACATTAGTTTCTTCCTTGTTTCCCACCAAAACGATTGAACTCAGCATCGTGTTTCCCACCAAAACAATTGAACTGAGCATCATATTTCCCACCGTACATTTTTTTGGAATACTGAAATGTCCCTAGGGGGAAGAAAGGGTTGAAGGAAGGTGGCGTGTGTCTGAGGACAGATGAATTTCGGAGATGCCACCTATGAAGCTCCTGCCCAGAGCACCCCTGGGCCTCCAAAGAGATGTTACCCATCTGGGGAAGAGGAGCTGGGCTGGGCCACCTTCTCAGCTTCGGAGACAGACTCTGGTGCATTCGCTTACCCGTTTCGCACCTTTGCATAAGACACTGACAATGCATGTGAGTCTGTGAAAGCTTCTGAGAAGTCTCGTCCAGGCAGTTGTTTGACTTTGCAGAGGCCGAGGCTTCTCAAACTCCTTCGGCAAGATTCTCCTGGAACACCTATTAATACTGCACATTGGGACACTGTGAAAACGCTGGTTTGGCTTGTCCCCAGCCTCATACAGGGGCTGGACCCGGGGCCCTCTTCCATGGTTC
|
GGAGAAATAGGGTTCTTATAAGAATTAGAGTTTATGACCAGGTGTGGTGCCTCGCACCTGTAATCCCAGCATTTTGTGAGGCTGAGTGGATCACTTAAAGCCAGGTTTTCGAGACCAGCCTGGGCAACCTAATGAGACCCCGTCTCTCAAAAAAAAAAAAAAATTTAGCCAGGCGTGGTGGCACACGCCTATAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTATGATTGCACCACTGCAGTCCAGCCTGGGCAACAAAATGAGACCCCATCTCGAAAAAAAAAAAGAAAAAGAATTAGAGCTTGTCTCTTCCAATGCCTTCGTTCTCTCACTGCACAAATATTCATTGAGTACCTACTGTGAACCAGGCCCTGTTCTGGTGGCTGGGACTACAGCAGTGAACTAGAGGGATGGAGTTTTGGCCTTCTGAAGCTTTCCTTCTCAGAGAGAGACAGATAGTAAAGGAAGTAACAAATAATTCTACAATAAGTGACTTGAAGAAAAATAAAGCATGGGGGGCAGGGCCAGGGTGGGAGTCATGTTGTGTTAGACAGGGTGGCTGGAGAGGGTGTCTGAAAGGCGACATTTGTGCAGAGGCAGGAGTGAAATGAAGATGCTGCTGCGCTGTGCAGGAAAGGGAACCCCAGGCAGTGACCACAGCAGCCTACAAGCGTGCGGATGCGTCCAGGTGGGGAGGCGGGTTTTCGCGGACAGAGTGTGTAGGGGGAAGCCGGTAAAAGGTGCGATCCGAGAGGAGAGGAAGGGCCCTGGGGACTTGTGAGGTTGGAAGGCACTGGTTTTGAGCAGCAGGCGACATGACTTGAACGGATCCCTCTGTCTCTGAGAGGAACACAGACTGCAGGCGCAAGGCAGAAGCAGAGCCCAGGAGGAGGCTGATCTAATCCAGGAGAGACAGCGGGCCTGGGAGCAGGGAGGGAGCAGCAGGTCTGTTTGTCAGGATCACGACAGCACTGGGGTGTGAGGGGAAGCCAAGGAAGGTGGCCAGGCTTGATGCCAGTCCCTGAGACGAGAAAGAGTGCAGGGAGCCGGCTGGCAGGGAAATGCCTACGGGTAGGGAAACTGAGCCCCAGAGAGAGGCTGCGATTGCCACCGGCACACAGAGTGGCAGGTTCCAGACAGGAAGCCGGGTCTGGTGCAGCTTCAACCTCCCTCCTTTCTGAATCAGCCAAGCCTCATTCCACAGTGAGGCCTCTTGGACTCCAAGGGCTATCCCATCCACTGTCGGGATGGTGGAAGGATCATCTTCTATCTCAGGCCAGGACTGACCCAGATGGGAGCAGGCAGTGGAGCCTGGGGCCCCGGTGGGCGTAGGCTCCAGATCCCTCAGTGCCTGGAACAGAGCAGCAGTGGGAGGGAGGGAGACAGCGCCTGGCCTTGCTGATGCTGAGGTTAGTCTGGAGTACATGCAGCTCCTGCTGATGGACAAAACCATCAAGGCAGTTGGAGCCCCCAGATCCTCTTGTTCAGGAATCCCCAGGCCATCTCCTTGTCACCCAGAGTAATTTGTTTTGCTTGCTTTACTCACTTTCATTTGGAAAGAAAGGGACCCTTTTGTAGACCAGAGCTTGAACATCTTTAAGCTAGTCAGATCCCCTCCTCAATGCTCAAGACCAATTTTAAACCCATAGCCGAGTCTTCACTGTCTTGCGCGCCCCTGCTGATGGGTGGATCACTCTTATAGCCTCTCCATTGTGTTGGGGGCAGTTGTGATATGTGGAAAGTTCTTCCACCAGCTGAGTTAGAGGCCATCTCCCCTCATTCCACATGCTGATGTGGGCCTGTTCTCTGGACACCCCCCACCTCCTGCTCCCACTCCTCATCAGTCACAGACACCCCCACCCCCTACTCCATCCCTGTTCTCCCTCCTCACCTCTCTGTGCCTCCTCACAGCCGTCCAGAATGAGCGGGACCGGATCAGCACTCGAAGGTCAAGCTATGAGGACAGCAGCCTGCCCTCCATCAATGCGCTCCTGCAGGCGGAGGTCCTGTCCGACAGGTACCGGGGTGATCCTGCCACCCACCCAGGGATCCCCCACACTACAGAGGAGCTCACCTCCTCCACCTCCATTCTCCCCAGCCAGGCCCTGGAGCAGCTGACGGGAGGGGCCTCAGATATTACAGAAGGGACACTGAGTCCGGTTTCACATGGCCCAGTTTGCAGCAAGGGCAGGAATCGAACCTGGCGCCCTGGGGCACTTTCTAATTCATCCTACTGCCTGCATCCCACAGGCCAAGCAGAGTCTTCACCTTCACTGAGGGCCTGCGATCAGCTCAGCTCCGAGAGAACAGAGCAGTGGCTCAGTGGAGAGAGGTGGCAAAGTGGGGCCCAGCCCTTCCCTTGCTGAGTGACCTTGGGCAAGTCACAGCACCTCTCTGAGCCATGGTTGCCTCATTGTCAGAAAAGGATGATGATTTTTTGCCCTGCTTCTCCTCTAAGGCTGACAGACTCCTTGGGGCTCTAAAGCTGACAGAGGAGGGGGCAGGGGGCAGGTAACAGGTGAAGGCACAGAGGGAGCCCTTCTCCCTCATCCCTGCCTCCTCCCTCCCTCCGTTTTTACCCTGAGCTTCCTTCAGAGCTGGAGGGCACCCACTATCCAGCCCCCTCCCCACATCTGATTCCAGGGAGGGGGCTCTGTGCAGGGGACAGAGAGTGCGGGAGGGCCCGGACATCTCCAGCATTTTCTTCCCTGTATCTCTCGAAGATCACCTCCCCCGTCTCCGGGATCAACGGCGACATTCGGGCGAAGAAGATTGCCAGCATCGCAGATGTGTGTGAGTCCATGAAGGAGCAGCTGCTGGTTCTCGTTGAGTGGGCCAAGTACATCCCAGCTTTCTGCGAGCTCCCCCTGGACGACCAGGTGAGGATGGGCGTGGATGGTGGGCAGTAGTGGGCAGTGGGCGGGGCAGCCAGGGGGCTGCTGGCCCACCTGGGATATAGCCGTGGACTGGCTTGATTTTATTTTATTTAACAAAATATGTAGTGCACACACGTGTCTGAAACTTTAAATCACCTTACAAATATTAACTCAGTTAGCTCCTCCAACAACTCTATGAGGTAGGTACTAAGGTACTATTATTACTGCCATCTCATAGGTGAGGAGATTGGGGCACAGAGAGGTTAAGTAACCTGCTCAAGGTCACATAGCTACTATCCAGCATAGCTGGGATTAGAACCTGGCAGGAAGCTCCAAAGTCCAAGCTCCTGACCATTGTACCTGAGGCTCTCCCAGGGGGATGTTGACAGGGACCCTAGGACAGGGATCAGGAGATTTTGGCTTAAGCTATGGCTCTAAGACTGGTTGTCTGCCTAATCCTGGGCAAATGAGTTCCTCTCTCTGAGCCTCAGTGTTCTCTTATCTGTAAAGTGGAAATGATAATATCCACTTTAGAGTGTGGTTGGGAGGATTGAGGACATTGGTGTCTGAAAAGTACAAAAATCAGGTGATGGGGCAAGCTGCACAGTGGCCAGACCAGAGCTGGTCTCCCTAAACATTAGTTTCTTCCTTGTTTCCCACCAAAACGATTGAACTCAGCATCGTGTTTCCCACCAAAACAATTGAACTGAGCATCATATTTCCCACCGTACATTTTTTTGGAATACTGAAATGTCCCTAGGGGGAAGAAAGGGTTGAAGGAAGGTGGCGTGTGTCTGAGGACAGATGAATTTCGGAGATGCCACCTATGAAGCTCCTGCCCAGAGCACCCCTGGGCCTCCAAAGAGATGTTACCCATCTGGGGAAGAGGAGCTGGGCTGGGCCACCTTCTCAGCTTCGGAGACAGACTCTGGTGCATTCGCTTACCCGTTTCGCACCTTTGCATAAGACACTGACAATGCATGTGAGTCTGTGAAAGCTTCTGAGAAGTCTCGTCCAGGCAGTTGTTTGACTTTGCAGAGGCCGAGGCTTCTCAAACTCCTTCGGCAAGATTCTCCTGGAACACCTATTAATACTGCACATTGGGACACTGTGAAAACGCTGGTTTGGCTTGTCCCCAGCCTCATACAGGGGCTGGACCCGGGGCCCTCTTCCATGGTTCN
|
pathogenic
| 313,728 |
A genetic variant on chromosome 20, position 44414569, affects the gene HNF4A (hepatocyte nuclear factor 4 alpha). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Monogenic_diabetes']
|
AGGTGCGATCCGAGAGGAGAGGAAGGGCCCTGGGGACTTGTGAGGTTGGAAGGCACTGGTTTTGAGCAGCAGGCGACATGACTTGAACGGATCCCTCTGTCTCTGAGAGGAACACAGACTGCAGGCGCAAGGCAGAAGCAGAGCCCAGGAGGAGGCTGATCTAATCCAGGAGAGACAGCGGGCCTGGGAGCAGGGAGGGAGCAGCAGGTCTGTTTGTCAGGATCACGACAGCACTGGGGTGTGAGGGGAAGCCAAGGAAGGTGGCCAGGCTTGATGCCAGTCCCTGAGACGAGAAAGAGTGCAGGGAGCCGGCTGGCAGGGAAATGCCTACGGGTAGGGAAACTGAGCCCCAGAGAGAGGCTGCGATTGCCACCGGCACACAGAGTGGCAGGTTCCAGACAGGAAGCCGGGTCTGGTGCAGCTTCAACCTCCCTCCTTTCTGAATCAGCCAAGCCTCATTCCACAGTGAGGCCTCTTGGACTCCAAGGGCTATCCCATCCACTGTCGGGATGGTGGAAGGATCATCTTCTATCTCAGGCCAGGACTGACCCAGATGGGAGCAGGCAGTGGAGCCTGGGGCCCCGGTGGGCGTAGGCTCCAGATCCCTCAGTGCCTGGAACAGAGCAGCAGTGGGAGGGAGGGAGACAGCGCCTGGCCTTGCTGATGCTGAGGTTAGTCTGGAGTACATGCAGCTCCTGCTGATGGACAAAACCATCAAGGCAGTTGGAGCCCCCAGATCCTCTTGTTCAGGAATCCCCAGGCCATCTCCTTGTCACCCAGAGTAATTTGTTTTGCTTGCTTTACTCACTTTCATTTGGAAAGAAAGGGACCCTTTTGTAGACCAGAGCTTGAACATCTTTAAGCTAGTCAGATCCCCTCCTCAATGCTCAAGACCAATTTTAAACCCATAGCCGAGTCTTCACTGTCTTGCGCGCCCCTGCTGATGGGTGGATCACTCTTATAGCCTCTCCATTGTGTTGGGGGCAGTTGTGATATGTGGAAAGTTCTTCCACCAGCTGAGTTAGAGGCCATCTCCCCTCATTCCACATGCTGATGTGGGCCTGTTCTCTGGACACCCCCCACCTCCTGCTCCCACTCCTCATCAGTCACAGACACCCCCACCCCCTACTCCATCCCTGTTCTCCCTCCTCACCTCTCTGTGCCTCCTCACAGCCGTCCAGAATGAGCGGGACCGGATCAGCACTCGAAGGTCAAGCTATGAGGACAGCAGCCTGCCCTCCATCAATGCGCTCCTGCAGGCGGAGGTCCTGTCCCGACAGGTACCGGGGTGATCCTGCCACCCACCCAGGGATCCCCCACACTACAGAGGAGCTCACCTCCTCCACCTCCATTCTCCCCAGCCAGGCCCTGGAGCAGCTGACGGGAGGGGCCTCAGATATTACAGAAGGGACACTGAGTCCGGTTTCACATGGCCCAGTTTGCAGCAAGGGCAGGAATCGAACCTGGCGCCCTGGGGCACTTTCTAATTCATCCTACTGCCTGCATCCCACAGGCCAAGCAGAGTCTTCACCTTCACTGAGGGCCTGCGATCAGCTCAGCTCCGAGAGAACAGAGCAGTGGCTCAGTGGAGAGAGGTGGCAAAGTGGGGCCCAGCCCTTCCCTTGCTGAGTGACCTTGGGCAAGTCACAGCACCTCTCTGAGCCATGGTTGCCTCATTGTCAGAAAAGGATGATGATTTTTTGCCCTGCTTCTCCTCTAAGGCTGACAGACTCCTTGGGGCTCTAAAGCTGACAGAGGAGGGGGCAGGGGGCAGGTAACAGGTGAAGGCACAGAGGGAGCCCTTCTCCCTCATCCCTGCCTCCTCCCTCCCTCCGTTTTTACCCTGAGCTTCCTTCAGAGCTGGAGGGCACCCACTATCCAGCCCCCTCCCCACATCTGATTCCAGGGAGGGGGCTCTGTGCAGGGGACAGAGAGTGCGGGAGGGCCCGGACATCTCCAGCATTTTCTTCCCTGTATCTCTCGAAGATCACCTCCCCCGTCTCCGGGATCAACGGCGACATTCGGGCGAAGAAGATTGCCAGCATCGCAGATGTGTGTGAGTCCATGAAGGAGCAGCTGCTGGTTCTCGTTGAGTGGGCCAAGTACATCCCAGCTTTCTGCGAGCTCCCCCTGGACGACCAGGTGAGGATGGGCGTGGATGGTGGGCAGTAGTGGGCAGTGGGCGGGGCAGCCAGGGGGCTGCTGGCCCACCTGGGATATAGCCGTGGACTGGCTTGATTTTATTTTATTTAACAAAATATGTAGTGCACACACGTGTCTGAAACTTTAAATCACCTTACAAATATTAACTCAGTTAGCTCCTCCAACAACTCTATGAGGTAGGTACTAAGGTACTATTATTACTGCCATCTCATAGGTGAGGAGATTGGGGCACAGAGAGGTTAAGTAACCTGCTCAAGGTCACATAGCTACTATCCAGCATAGCTGGGATTAGAACCTGGCAGGAAGCTCCAAAGTCCAAGCTCCTGACCATTGTACCTGAGGCTCTCCCAGGGGGATGTTGACAGGGACCCTAGGACAGGGATCAGGAGATTTTGGCTTAAGCTATGGCTCTAAGACTGGTTGTCTGCCTAATCCTGGGCAAATGAGTTCCTCTCTCTGAGCCTCAGTGTTCTCTTATCTGTAAAGTGGAAATGATAATATCCACTTTAGAGTGTGGTTGGGAGGATTGAGGACATTGGTGTCTGAAAAGTACAAAAATCAGGTGATGGGGCAAGCTGCACAGTGGCCAGACCAGAGCTGGTCTCCCTAAACATTAGTTTCTTCCTTGTTTCCCACCAAAACGATTGAACTCAGCATCGTGTTTCCCACCAAAACAATTGAACTGAGCATCATATTTCCCACCGTACATTTTTTTGGAATACTGAAATGTCCCTAGGGGGAAGAAAGGGTTGAAGGAAGGTGGCGTGTGTCTGAGGACAGATGAATTTCGGAGATGCCACCTATGAAGCTCCTGCCCAGAGCACCCCTGGGCCTCCAAAGAGATGTTACCCATCTGGGGAAGAGGAGCTGGGCTGGGCCACCTTCTCAGCTTCGGAGACAGACTCTGGTGCATTCGCTTACCCGTTTCGCACCTTTGCATAAGACACTGACAATGCATGTGAGTCTGTGAAAGCTTCTGAGAAGTCTCGTCCAGGCAGTTGTTTGACTTTGCAGAGGCCGAGGCTTCTCAAACTCCTTCGGCAAGATTCTCCTGGAACACCTATTAATACTGCACATTGGGACACTGTGAAAACGCTGGTTTGGCTTGTCCCCAGCCTCATACAGGGGCTGGACCCGGGGCCCTCTTCCATGGTTCCTCCTTCCATTAGCAGAGTCGACAGGGCAAGGATCTTGGACAATCCGCCCCTACCCTCTCCCCTGTTCCTTGTGCTCTGGCCCCAGTCCCCTCTGCTGGAGTCTCTACATTAATGTTTAATCCCTCCTGTTCCTTCCCAGGGGCTTAGCAGGGCAACAAGATACCCCCAACCTGAGCAATTGTTAACCTCGATTTCCCACCCAAACCTCCCTGGCTGGGGCTCAGAGCATTCTCAGAGAGCAATGATGGGTGGCCAATAACACAGGACAATCATTAACACACCACCCCGACCTCCCGGCCCACCCCCCAGAACAGCTGCCATATCAGGGGGTTGAACCTGGGATCAGAAGGGTTCCCAGCTCCCCATTCCTGGTATATGAGGAGCCCAGCTTGCCCAATGCAGGTGGGGCATCCCTGGGAAAGTCGGGGGCATTGTCCTCCAAAGGGCTTCCCAATTTTGTTGACATTGCCCCAGAAACTAGATTCCCAGTTGGTGTGCTTCTTGGGCCTGGATACAATTGCAGAAAGAGATTGGGGCTTAGAGAGAGACAGAAATTTGCCTGAAGTCACAGAGCAAGTTAGCGACAGAACTGGGATTCAAATCCAGGTCTTCCGCTTCGCGATGTGAAGGCCACTGGAGTGACTGATGAAAGACTTGCACAGTGCCCAGTGCGCAGGAGGCGCTTGGCAATCAGCATCCTCGGCCTCCCTCCATACTGGTCATGGAAAGTGGATTTTCCCTCCCAGGCAGTTTCCTCTTTTTCTGTTTTCCTCACA
|
AGGTGCGATCCGAGAGGAGAGGAAGGGCCCTGGGGACTTGTGAGGTTGGAAGGCACTGGTTTTGAGCAGCAGGCGACATGACTTGAACGGATCCCTCTGTCTCTGAGAGGAACACAGACTGCAGGCGCAAGGCAGAAGCAGAGCCCAGGAGGAGGCTGATCTAATCCAGGAGAGACAGCGGGCCTGGGAGCAGGGAGGGAGCAGCAGGTCTGTTTGTCAGGATCACGACAGCACTGGGGTGTGAGGGGAAGCCAAGGAAGGTGGCCAGGCTTGATGCCAGTCCCTGAGACGAGAAAGAGTGCAGGGAGCCGGCTGGCAGGGAAATGCCTACGGGTAGGGAAACTGAGCCCCAGAGAGAGGCTGCGATTGCCACCGGCACACAGAGTGGCAGGTTCCAGACAGGAAGCCGGGTCTGGTGCAGCTTCAACCTCCCTCCTTTCTGAATCAGCCAAGCCTCATTCCACAGTGAGGCCTCTTGGACTCCAAGGGCTATCCCATCCACTGTCGGGATGGTGGAAGGATCATCTTCTATCTCAGGCCAGGACTGACCCAGATGGGAGCAGGCAGTGGAGCCTGGGGCCCCGGTGGGCGTAGGCTCCAGATCCCTCAGTGCCTGGAACAGAGCAGCAGTGGGAGGGAGGGAGACAGCGCCTGGCCTTGCTGATGCTGAGGTTAGTCTGGAGTACATGCAGCTCCTGCTGATGGACAAAACCATCAAGGCAGTTGGAGCCCCCAGATCCTCTTGTTCAGGAATCCCCAGGCCATCTCCTTGTCACCCAGAGTAATTTGTTTTGCTTGCTTTACTCACTTTCATTTGGAAAGAAAGGGACCCTTTTGTAGACCAGAGCTTGAACATCTTTAAGCTAGTCAGATCCCCTCCTCAATGCTCAAGACCAATTTTAAACCCATAGCCGAGTCTTCACTGTCTTGCGCGCCCCTGCTGATGGGTGGATCACTCTTATAGCCTCTCCATTGTGTTGGGGGCAGTTGTGATATGTGGAAAGTTCTTCCACCAGCTGAGTTAGAGGCCATCTCCCCTCATTCCACATGCTGATGTGGGCCTGTTCTCTGGACACCCCCCACCTCCTGCTCCCACTCCTCATCAGTCACAGACACCCCCACCCCCTACTCCATCCCTGTTCTCCCTCCTCACCTCTCTGTGCCTCCTCACAGCCGTCCAGAATGAGCGGGACCGGATCAGCACTCGAAGGTCAAGCTATGAGGACAGCAGCCTGCCCTCCATCAATGCGCTCCTGCAGGCGGAGGTCCTGTCCCGACAGGTACCGGGGTGATCCTGCCACCCACCCAGGGATCCCCCACACTACAGAGGAGCTCACCTCCTCCACCTCCATTCTCCCCAGCCAGGCCCTGGAGCAGCTGACGGGAGGGGCCTCAGATATTACAGAAGGGACACTGAGTCCGGTTTCACATGGCCCAGTTTGCAGCAAGGGCAGGAATCGAACCTGGCGCCCTGGGGCACTTTCTAATTCATCCTACTGCCTGCATCCCACAGGCCAAGCAGAGTCTTCACCTTCACTGAGGGCCTGCGATCAGCTCAGCTCCGAGAGAACAGAGCAGTGGCTCAGTGGAGAGAGGTGGCAAAGTGGGGCCCAGCCCTTCCCTTGCTGAGTGACCTTGGGCAAGTCACAGCACCTCTCTGAGCCATGGTTGCCTCATTGTCAGAAAAGGATGATGATTTTTTGCCCTGCTTCTCCTCTAAGGCTGACAGACTCCTTGGGGCTCTAAAGCTGACAGAGGAGGGGGCAGGGGGCAGGTAACAGGTGAAGGCACAGAGGGAGCCCTTCTCCCTCATCCCTGCCTCCTCCCTCCCTCCGTTTTTACCCTGAGCTTCCTTCAGAGCTGGAGGGCACCCACTATCCAGCCCCCTCCCCACATCTGATTCCAGGGAGGGGGCTCTGTGCAGGGGACAGAGAGTGCGGGAGGGCCCGGACATCTCCAGCATTTTCTTCCCTGTATCTCTCGAAGATCACCTCCCCCGTCTCCGGGATCAACGGCGACATTCGGGCGAAGAAGATTGCCAGCATCGCAGGATGTGTGTGAGTCCATGAAGGAGCAGCTGCTGGTTCTCGTTGAGTGGGCCAAGTACATCCCAGCTTTCTGCGAGCTCCCCCTGGACGACCAGGTGAGGATGGGCGTGGATGGTGGGCAGTAGTGGGCAGTGGGCGGGGCAGCCAGGGGGCTGCTGGCCCACCTGGGATATAGCCGTGGACTGGCTTGATTTTATTTTATTTAACAAAATATGTAGTGCACACACGTGTCTGAAACTTTAAATCACCTTACAAATATTAACTCAGTTAGCTCCTCCAACAACTCTATGAGGTAGGTACTAAGGTACTATTATTACTGCCATCTCATAGGTGAGGAGATTGGGGCACAGAGAGGTTAAGTAACCTGCTCAAGGTCACATAGCTACTATCCAGCATAGCTGGGATTAGAACCTGGCAGGAAGCTCCAAAGTCCAAGCTCCTGACCATTGTACCTGAGGCTCTCCCAGGGGGATGTTGACAGGGACCCTAGGACAGGGATCAGGAGATTTTGGCTTAAGCTATGGCTCTAAGACTGGTTGTCTGCCTAATCCTGGGCAAATGAGTTCCTCTCTCTGAGCCTCAGTGTTCTCTTATCTGTAAAGTGGAAATGATAATATCCACTTTAGAGTGTGGTTGGGAGGATTGAGGACATTGGTGTCTGAAAAGTACAAAAATCAGGTGATGGGGCAAGCTGCACAGTGGCCAGACCAGAGCTGGTCTCCCTAAACATTAGTTTCTTCCTTGTTTCCCACCAAAACGATTGAACTCAGCATCGTGTTTCCCACCAAAACAATTGAACTGAGCATCATATTTCCCACCGTACATTTTTTTGGAATACTGAAATGTCCCTAGGGGGAAGAAAGGGTTGAAGGAAGGTGGCGTGTGTCTGAGGACAGATGAATTTCGGAGATGCCACCTATGAAGCTCCTGCCCAGAGCACCCCTGGGCCTCCAAAGAGATGTTACCCATCTGGGGAAGAGGAGCTGGGCTGGGCCACCTTCTCAGCTTCGGAGACAGACTCTGGTGCATTCGCTTACCCGTTTCGCACCTTTGCATAAGACACTGACAATGCATGTGAGTCTGTGAAAGCTTCTGAGAAGTCTCGTCCAGGCAGTTGTTTGACTTTGCAGAGGCCGAGGCTTCTCAAACTCCTTCGGCAAGATTCTCCTGGAACACCTATTAATACTGCACATTGGGACACTGTGAAAACGCTGGTTTGGCTTGTCCCCAGCCTCATACAGGGGCTGGACCCGGGGCCCTCTTCCATGGTTCCTCCTTCCATTAGCAGAGTCGACAGGGCAAGGATCTTGGACAATCCGCCCCTACCCTCTCCCCTGTTCCTTGTGCTCTGGCCCCAGTCCCCTCTGCTGGAGTCTCTACATTAATGTTTAATCCCTCCTGTTCCTTCCCAGGGGCTTAGCAGGGCAACAAGATACCCCCAACCTGAGCAATTGTTAACCTCGATTTCCCACCCAAACCTCCCTGGCTGGGGCTCAGAGCATTCTCAGAGAGCAATGATGGGTGGCCAATAACACAGGACAATCATTAACACACCACCCCGACCTCCCGGCCCACCCCCCAGAACAGCTGCCATATCAGGGGGTTGAACCTGGGATCAGAAGGGTTCCCAGCTCCCCATTCCTGGTATATGAGGAGCCCAGCTTGCCCAATGCAGGTGGGGCATCCCTGGGAAAGTCGGGGGCATTGTCCTCCAAAGGGCTTCCCAATTTTGTTGACATTGCCCCAGAAACTAGATTCCCAGTTGGTGTGCTTCTTGGGCCTGGATACAATTGCAGAAAGAGATTGGGGCTTAGAGAGAGACAGAAATTTGCCTGAAGTCACAGAGCAAGTTAGCGACAGAACTGGGATTCAAATCCAGGTCTTCCGCTTCGCGATGTGAAGGCCACTGGAGTGACTGATGAAAGACTTGCACAGTGCCCAGTGCGCAGGAGGCGCTTGGCAATCAGCATCCTCGGCCTCCCTCCATACTGGTCATGGAAAGTGGATTTTCCCTCCCAGGCAGTTTCCTCTTTTTCTGTTTTCCTCAC
|
pathogenic
| 313,741 |
Considering the genetic mutation at chromosome 20, position 44414651, impacting HNF4A (hepatocyte nuclear factor 4 alpha): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Maturity-onset_diabetes_of_the_young_type_1', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes']
|
TTGAACGGATCCCTCTGTCTCTGAGAGGAACACAGACTGCAGGCGCAAGGCAGAAGCAGAGCCCAGGAGGAGGCTGATCTAATCCAGGAGAGACAGCGGGCCTGGGAGCAGGGAGGGAGCAGCAGGTCTGTTTGTCAGGATCACGACAGCACTGGGGTGTGAGGGGAAGCCAAGGAAGGTGGCCAGGCTTGATGCCAGTCCCTGAGACGAGAAAGAGTGCAGGGAGCCGGCTGGCAGGGAAATGCCTACGGGTAGGGAAACTGAGCCCCAGAGAGAGGCTGCGATTGCCACCGGCACACAGAGTGGCAGGTTCCAGACAGGAAGCCGGGTCTGGTGCAGCTTCAACCTCCCTCCTTTCTGAATCAGCCAAGCCTCATTCCACAGTGAGGCCTCTTGGACTCCAAGGGCTATCCCATCCACTGTCGGGATGGTGGAAGGATCATCTTCTATCTCAGGCCAGGACTGACCCAGATGGGAGCAGGCAGTGGAGCCTGGGGCCCCGGTGGGCGTAGGCTCCAGATCCCTCAGTGCCTGGAACAGAGCAGCAGTGGGAGGGAGGGAGACAGCGCCTGGCCTTGCTGATGCTGAGGTTAGTCTGGAGTACATGCAGCTCCTGCTGATGGACAAAACCATCAAGGCAGTTGGAGCCCCCAGATCCTCTTGTTCAGGAATCCCCAGGCCATCTCCTTGTCACCCAGAGTAATTTGTTTTGCTTGCTTTACTCACTTTCATTTGGAAAGAAAGGGACCCTTTTGTAGACCAGAGCTTGAACATCTTTAAGCTAGTCAGATCCCCTCCTCAATGCTCAAGACCAATTTTAAACCCATAGCCGAGTCTTCACTGTCTTGCGCGCCCCTGCTGATGGGTGGATCACTCTTATAGCCTCTCCATTGTGTTGGGGGCAGTTGTGATATGTGGAAAGTTCTTCCACCAGCTGAGTTAGAGGCCATCTCCCCTCATTCCACATGCTGATGTGGGCCTGTTCTCTGGACACCCCCCACCTCCTGCTCCCACTCCTCATCAGTCACAGACACCCCCACCCCCTACTCCATCCCTGTTCTCCCTCCTCACCTCTCTGTGCCTCCTCACAGCCGTCCAGAATGAGCGGGACCGGATCAGCACTCGAAGGTCAAGCTATGAGGACAGCAGCCTGCCCTCCATCAATGCGCTCCTGCAGGCGGAGGTCCTGTCCCGACAGGTACCGGGGTGATCCTGCCACCCACCCAGGGATCCCCCACACTACAGAGGAGCTCACCTCCTCCACCTCCATTCTCCCCAGCCAGGCCCTGGAGCAGCTGACGGGAGGGGCCTCAGATATTACAGAAGGGACACTGAGTCCGGTTTCACATGGCCCAGTTTGCAGCAAGGGCAGGAATCGAACCTGGCGCCCTGGGGCACTTTCTAATTCATCCTACTGCCTGCATCCCACAGGCCAAGCAGAGTCTTCACCTTCACTGAGGGCCTGCGATCAGCTCAGCTCCGAGAGAACAGAGCAGTGGCTCAGTGGAGAGAGGTGGCAAAGTGGGGCCCAGCCCTTCCCTTGCTGAGTGACCTTGGGCAAGTCACAGCACCTCTCTGAGCCATGGTTGCCTCATTGTCAGAAAAGGATGATGATTTTTTGCCCTGCTTCTCCTCTAAGGCTGACAGACTCCTTGGGGCTCTAAAGCTGACAGAGGAGGGGGCAGGGGGCAGGTAACAGGTGAAGGCACAGAGGGAGCCCTTCTCCCTCATCCCTGCCTCCTCCCTCCCTCCGTTTTTACCCTGAGCTTCCTTCAGAGCTGGAGGGCACCCACTATCCAGCCCCCTCCCCACATCTGATTCCAGGGAGGGGGCTCTGTGCAGGGGACAGAGAGTGCGGGAGGGCCCGGACATCTCCAGCATTTTCTTCCCTGTATCTCTCGAAGATCACCTCCCCCGTCTCCGGGATCAACGGCGACATTCGGGCGAAGAAGATTGCCAGCATCGCAGATGTGTGTGAGTCCATGAAGGAGCAGCTGCTGGTTCTCGTTGAGTGGGCCAAGTACATCCCAGCTTTCTGCGAGCTCCCCCTGGACGACCAGGTGAGGATGGGCGTGGATGGTGGGCAGTAGTGGGCAGTGGGCGGGGCAGCCAGGGGGCTGCTGGCCCACCTGGGATATAGCCGTGGACTGGCTTGATTTTATTTTATTTAACAAAATATGTAGTGCACACACGTGTCTGAAACTTTAAATCACCTTACAAATATTAACTCAGTTAGCTCCTCCAACAACTCTATGAGGTAGGTACTAAGGTACTATTATTACTGCCATCTCATAGGTGAGGAGATTGGGGCACAGAGAGGTTAAGTAACCTGCTCAAGGTCACATAGCTACTATCCAGCATAGCTGGGATTAGAACCTGGCAGGAAGCTCCAAAGTCCAAGCTCCTGACCATTGTACCTGAGGCTCTCCCAGGGGGATGTTGACAGGGACCCTAGGACAGGGATCAGGAGATTTTGGCTTAAGCTATGGCTCTAAGACTGGTTGTCTGCCTAATCCTGGGCAAATGAGTTCCTCTCTCTGAGCCTCAGTGTTCTCTTATCTGTAAAGTGGAAATGATAATATCCACTTTAGAGTGTGGTTGGGAGGATTGAGGACATTGGTGTCTGAAAAGTACAAAAATCAGGTGATGGGGCAAGCTGCACAGTGGCCAGACCAGAGCTGGTCTCCCTAAACATTAGTTTCTTCCTTGTTTCCCACCAAAACGATTGAACTCAGCATCGTGTTTCCCACCAAAACAATTGAACTGAGCATCATATTTCCCACCGTACATTTTTTTGGAATACTGAAATGTCCCTAGGGGGAAGAAAGGGTTGAAGGAAGGTGGCGTGTGTCTGAGGACAGATGAATTTCGGAGATGCCACCTATGAAGCTCCTGCCCAGAGCACCCCTGGGCCTCCAAAGAGATGTTACCCATCTGGGGAAGAGGAGCTGGGCTGGGCCACCTTCTCAGCTTCGGAGACAGACTCTGGTGCATTCGCTTACCCGTTTCGCACCTTTGCATAAGACACTGACAATGCATGTGAGTCTGTGAAAGCTTCTGAGAAGTCTCGTCCAGGCAGTTGTTTGACTTTGCAGAGGCCGAGGCTTCTCAAACTCCTTCGGCAAGATTCTCCTGGAACACCTATTAATACTGCACATTGGGACACTGTGAAAACGCTGGTTTGGCTTGTCCCCAGCCTCATACAGGGGCTGGACCCGGGGCCCTCTTCCATGGTTCCTCCTTCCATTAGCAGAGTCGACAGGGCAAGGATCTTGGACAATCCGCCCCTACCCTCTCCCCTGTTCCTTGTGCTCTGGCCCCAGTCCCCTCTGCTGGAGTCTCTACATTAATGTTTAATCCCTCCTGTTCCTTCCCAGGGGCTTAGCAGGGCAACAAGATACCCCCAACCTGAGCAATTGTTAACCTCGATTTCCCACCCAAACCTCCCTGGCTGGGGCTCAGAGCATTCTCAGAGAGCAATGATGGGTGGCCAATAACACAGGACAATCATTAACACACCACCCCGACCTCCCGGCCCACCCCCCAGAACAGCTGCCATATCAGGGGGTTGAACCTGGGATCAGAAGGGTTCCCAGCTCCCCATTCCTGGTATATGAGGAGCCCAGCTTGCCCAATGCAGGTGGGGCATCCCTGGGAAAGTCGGGGGCATTGTCCTCCAAAGGGCTTCCCAATTTTGTTGACATTGCCCCAGAAACTAGATTCCCAGTTGGTGTGCTTCTTGGGCCTGGATACAATTGCAGAAAGAGATTGGGGCTTAGAGAGAGACAGAAATTTGCCTGAAGTCACAGAGCAAGTTAGCGACAGAACTGGGATTCAAATCCAGGTCTTCCGCTTCGCGATGTGAAGGCCACTGGAGTGACTGATGAAAGACTTGCACAGTGCCCAGTGCGCAGGAGGCGCTTGGCAATCAGCATCCTCGGCCTCCCTCCATACTGGTCATGGAAAGTGGATTTTCCCTCCCAGGCAGTTTCCTCTTTTTCTGTTTTCCTCACAGGTTTCTATCCATGGGGAATAGAAGGGGCAAGGACAAGTGGCTGCCCAGGAGCAGCTAGAGCTAGAGAGGAAGTCAAGATGT
|
TTGAACGGATCCCTCTGTCTCTGAGAGGAACACAGACTGCAGGCGCAAGGCAGAAGCAGAGCCCAGGAGGAGGCTGATCTAATCCAGGAGAGACAGCGGGCCTGGGAGCAGGGAGGGAGCAGCAGGTCTGTTTGTCAGGATCACGACAGCACTGGGGTGTGAGGGGAAGCCAAGGAAGGTGGCCAGGCTTGATGCCAGTCCCTGAGACGAGAAAGAGTGCAGGGAGCCGGCTGGCAGGGAAATGCCTACGGGTAGGGAAACTGAGCCCCAGAGAGAGGCTGCGATTGCCACCGGCACACAGAGTGGCAGGTTCCAGACAGGAAGCCGGGTCTGGTGCAGCTTCAACCTCCCTCCTTTCTGAATCAGCCAAGCCTCATTCCACAGTGAGGCCTCTTGGACTCCAAGGGCTATCCCATCCACTGTCGGGATGGTGGAAGGATCATCTTCTATCTCAGGCCAGGACTGACCCAGATGGGAGCAGGCAGTGGAGCCTGGGGCCCCGGTGGGCGTAGGCTCCAGATCCCTCAGTGCCTGGAACAGAGCAGCAGTGGGAGGGAGGGAGACAGCGCCTGGCCTTGCTGATGCTGAGGTTAGTCTGGAGTACATGCAGCTCCTGCTGATGGACAAAACCATCAAGGCAGTTGGAGCCCCCAGATCCTCTTGTTCAGGAATCCCCAGGCCATCTCCTTGTCACCCAGAGTAATTTGTTTTGCTTGCTTTACTCACTTTCATTTGGAAAGAAAGGGACCCTTTTGTAGACCAGAGCTTGAACATCTTTAAGCTAGTCAGATCCCCTCCTCAATGCTCAAGACCAATTTTAAACCCATAGCCGAGTCTTCACTGTCTTGCGCGCCCCTGCTGATGGGTGGATCACTCTTATAGCCTCTCCATTGTGTTGGGGGCAGTTGTGATATGTGGAAAGTTCTTCCACCAGCTGAGTTAGAGGCCATCTCCCCTCATTCCACATGCTGATGTGGGCCTGTTCTCTGGACACCCCCCACCTCCTGCTCCCACTCCTCATCAGTCACAGACACCCCCACCCCCTACTCCATCCCTGTTCTCCCTCCTCACCTCTCTGTGCCTCCTCACAGCCGTCCAGAATGAGCGGGACCGGATCAGCACTCGAAGGTCAAGCTATGAGGACAGCAGCCTGCCCTCCATCAATGCGCTCCTGCAGGCGGAGGTCCTGTCCCGACAGGTACCGGGGTGATCCTGCCACCCACCCAGGGATCCCCCACACTACAGAGGAGCTCACCTCCTCCACCTCCATTCTCCCCAGCCAGGCCCTGGAGCAGCTGACGGGAGGGGCCTCAGATATTACAGAAGGGACACTGAGTCCGGTTTCACATGGCCCAGTTTGCAGCAAGGGCAGGAATCGAACCTGGCGCCCTGGGGCACTTTCTAATTCATCCTACTGCCTGCATCCCACAGGCCAAGCAGAGTCTTCACCTTCACTGAGGGCCTGCGATCAGCTCAGCTCCGAGAGAACAGAGCAGTGGCTCAGTGGAGAGAGGTGGCAAAGTGGGGCCCAGCCCTTCCCTTGCTGAGTGACCTTGGGCAAGTCACAGCACCTCTCTGAGCCATGGTTGCCTCATTGTCAGAAAAGGATGATGATTTTTTGCCCTGCTTCTCCTCTAAGGCTGACAGACTCCTTGGGGCTCTAAAGCTGACAGAGGAGGGGGCAGGGGGCAGGTAACAGGTGAAGGCACAGAGGGAGCCCTTCTCCCTCATCCCTGCCTCCTCCCTCCCTCCGTTTTTACCCTGAGCTTCCTTCAGAGCTGGAGGGCACCCACTATCCAGCCCCCTCCCCACATCTGATTCCAGGGAGGGGGCTCTGTGCAGGGGACAGAGAGTGCGGGAGGGCCCGGACATCTCCAGCATTTTCTTCCCTGTATCTCTCGAAGATCACCTCCCCCGTCTCCGGGATCAACGGCGACATTCGGGCGAAGAAGATTGCCAGCATCGCAGATGTGTGTGAGTCCATGAAGGAGCAGCTGCTGGTTCTCGTTGAGTGGGCCAAGTACATCCCAGCTTTCTGCGAGCTCCCCCTGGGCGTGGATGGTGGGCAGTAGTGGGCAGTGGGCGGGGCAGCCAGGGGGCTGCTGGCCCACCTGGGATATAGCCGTGGACTGGCTTGATTTTATTTTATTTAACAAAATATGTAGTGCACACACGTGTCTGAAACTTTAAATCACCTTACAAATATTAACTCAGTTAGCTCCTCCAACAACTCTATGAGGTAGGTACTAAGGTACTATTATTACTGCCATCTCATAGGTGAGGAGATTGGGGCACAGAGAGGTTAAGTAACCTGCTCAAGGTCACATAGCTACTATCCAGCATAGCTGGGATTAGAACCTGGCAGGAAGCTCCAAAGTCCAAGCTCCTGACCATTGTACCTGAGGCTCTCCCAGGGGGATGTTGACAGGGACCCTAGGACAGGGATCAGGAGATTTTGGCTTAAGCTATGGCTCTAAGACTGGTTGTCTGCCTAATCCTGGGCAAATGAGTTCCTCTCTCTGAGCCTCAGTGTTCTCTTATCTGTAAAGTGGAAATGATAATATCCACTTTAGAGTGTGGTTGGGAGGATTGAGGACATTGGTGTCTGAAAAGTACAAAAATCAGGTGATGGGGCAAGCTGCACAGTGGCCAGACCAGAGCTGGTCTCCCTAAACATTAGTTTCTTCCTTGTTTCCCACCAAAACGATTGAACTCAGCATCGTGTTTCCCACCAAAACAATTGAACTGAGCATCATATTTCCCACCGTACATTTTTTTGGAATACTGAAATGTCCCTAGGGGGAAGAAAGGGTTGAAGGAAGGTGGCGTGTGTCTGAGGACAGATGAATTTCGGAGATGCCACCTATGAAGCTCCTGCCCAGAGCACCCCTGGGCCTCCAAAGAGATGTTACCCATCTGGGGAAGAGGAGCTGGGCTGGGCCACCTTCTCAGCTTCGGAGACAGACTCTGGTGCATTCGCTTACCCGTTTCGCACCTTTGCATAAGACACTGACAATGCATGTGAGTCTGTGAAAGCTTCTGAGAAGTCTCGTCCAGGCAGTTGTTTGACTTTGCAGAGGCCGAGGCTTCTCAAACTCCTTCGGCAAGATTCTCCTGGAACACCTATTAATACTGCACATTGGGACACTGTGAAAACGCTGGTTTGGCTTGTCCCCAGCCTCATACAGGGGCTGGACCCGGGGCCCTCTTCCATGGTTCCTCCTTCCATTAGCAGAGTCGACAGGGCAAGGATCTTGGACAATCCGCCCCTACCCTCTCCCCTGTTCCTTGTGCTCTGGCCCCAGTCCCCTCTGCTGGAGTCTCTACATTAATGTTTAATCCCTCCTGTTCCTTCCCAGGGGCTTAGCAGGGCAACAAGATACCCCCAACCTGAGCAATTGTTAACCTCGATTTCCCACCCAAACCTCCCTGGCTGGGGCTCAGAGCATTCTCAGAGAGCAATGATGGGTGGCCAATAACACAGGACAATCATTAACACACCACCCCGACCTCCCGGCCCACCCCCCAGAACAGCTGCCATATCAGGGGGTTGAACCTGGGATCAGAAGGGTTCCCAGCTCCCCATTCCTGGTATATGAGGAGCCCAGCTTGCCCAATGCAGGTGGGGCATCCCTGGGAAAGTCGGGGGCATTGTCCTCCAAAGGGCTTCCCAATTTTGTTGACATTGCCCCAGAAACTAGATTCCCAGTTGGTGTGCTTCTTGGGCCTGGATACAATTGCAGAAAGAGATTGGGGCTTAGAGAGAGACAGAAATTTGCCTGAAGTCACAGAGCAAGTTAGCGACAGAACTGGGATTCAAATCCAGGTCTTCCGCTTCGCGATGTGAAGGCCACTGGAGTGACTGATGAAAGACTTGCACAGTGCCCAGTGCGCAGGAGGCGCTTGGCAATCAGCATCCTCGGCCTCCCTCCATACTGGTCATGGAAAGTGGATTTTCCCTCCCAGGCAGTTTCCTCTTTTTCTGTTTTCCTCACAGGTTTCTATCCATGGGGAATAGAAGGGGCAAGGACAAGTGGCTGCCCAGGAGCAGCTAGAGCTAGAGAGGAAGTCAAGATGTNNNNNNNNNNNNNNNNNN
|
pathogenic
| 313,746 |
Located at chromosome 20 position 44418422, the variant affecting gene HNF4A (hepatocyte nuclear factor 4 alpha)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Maturity-onset_diabetes_of_the_young_type_1', 'Monogenic_diabetes']
|
GGGCTTAGAGAGAGACAGAAATTTGCCTGAAGTCACAGAGCAAGTTAGCGACAGAACTGGGATTCAAATCCAGGTCTTCCGCTTCGCGATGTGAAGGCCACTGGAGTGACTGATGAAAGACTTGCACAGTGCCCAGTGCGCAGGAGGCGCTTGGCAATCAGCATCCTCGGCCTCCCTCCATACTGGTCATGGAAAGTGGATTTTCCCTCCCAGGCAGTTTCCTCTTTTTCTGTTTTCCTCACAGGTTTCTATCCATGGGGAATAGAAGGGGCAAGGACAAGTGGCTGCCCAGGAGCAGCTAGAGCTAGAGAGGAAGTCAAGATGTTTGCTCATTCATTCATTCATTTCCCCTTTCCTTCCTTCATTCAAATATTTATTGAAGGCTTATTTTGTGCCAAATATCTTCAGACAAATGCCTTCTTTCCTCTAACAACAATTTCACCTCCTTAGAGGCCTTCTCTGACCTCCCCATCTAACGTAGCCATTCTTGCCCCATTGCTCTCACCATCCTTTCCACTCCCCTCCCTCCCTCCTTCCCTTCCTCCCACCTTTTCTCCTTCCTTCTTTCCTTTATGCTGTGATCACCCTGTGTCCTCTGTACTTATTTGTTCTCTACTATCTGTTCATCCTCTCTCCTATAAATGTTAGTTCGATGAGATTAGAGACCTTGTCTCTCGTTTTTAAACATTGTGCCTCCATTGTCTTAAAAAGTGTCTGGCATTTAGTAGGCATTTAGGATTTGATAACTGAAAGAATGAACAATCAAATTAATGAACAAACAAAGGATTTTAACCTTCTAGTTTGGCTTGCTATGGAACCTCCAAACTCCCTAACCCAACCTTGAAGATGAGAAGATGAGATCCTTGAGGCTACCAGCCTGGTGCTGTTTTGTTTCAAGCCATCCTTTGGTCCTCAGGCAAGCACTAAAGCAGATGGCTCTCAGTGGGCTGGCTATGTCCTTCTGTGAGCTTGCTGGGCCCCTACCTATGACTCCAGTCTTAGAAGTCTTGCCTTGTACCCCCTGCAGAGAATGGTTTCATCAAGCTGATTCTCTGCCAGGGGCCAGTGCTCATACATTTGCTCTGAGAAGGACCAGCCCTGAGACCTAACATCCACATCCAAGTTCTTGTAATGCCCTCTCAGAATCCTGGAGTCCTGCAATGTCGATCCCTGGAGGGATCTGCCAGACCAATGATTTCCCAAACAGAATTGCACTTCAGAGTCAACTATGGAGCTTTTTAAACACAGATCCCTGGGCCCACCCTAAACATACAAAATCAGGATCAGAATCTCAGGGCCTAAGAATCTGTATTTTCAGGCCGGGCGCAGTGGTTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGTTGGGCTGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAGTCTCAGCTACTCTGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCGGAAGCTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAATAGAATCTGTATTTTTACAAAGCACCCTTCATAATTCTCCATAGCTGGTCCATGGGTGGGAATTTGGGACCCACAGTTTTGGAACTTTTTGGGATCATAGACCTTTTTGAGAATCTCAAAAAAGAAAAAAAAAGCACACAGAATGTTGCTTACAGTTTCATCAGGCACACAGAAGAGGCCCAGCACGAAGCAGTTTCTTGCCCAAGGACACAGCAGTTCAAGGACAGAGTCAGCGCGAGGTCTCTCAGCTCTGAGCACATGTTCTTTCCCCTTCCAGGTTTCTAGTTTTATGGGTAGTAGTTTTATGATGCCCATTTCACAGTTCAGGCAGGTAGAGGCAGAGGGGAGCATTAAGCTGACTTGCCCAGCGTCACTGAGTTGGCTACGGGCAGCCTTCCCAAGGGTACAGATGGCAAACACTGTTCCTTCTCTCTTTCAGGTGGCCCTGCTCAGAGCCCATGCTGGCGAGCACCTGCTGCTCGGAGCCACCAAGAGATCCATGGTGTTCAAGGACGTGCTGCTCCTAGGTGAGGCGGCTGCCTGCCCTGGCCAGGGCTCCAGGGAGGGTATGCCTAGCATGGCACTCACCCAGGCAAGGAGATTCACATGGTGGCATGCAAGGGTGAGGGAGACTAGTCAGGAGTGGCCCTGTCCTCAGGCTTGCATTAGAGGGCTCCAGGACTCAGTTTTCAACTGGGTACCCCACTCAGATGCAAGGAAATGTGGATGCAAGTCACCAAATTCCCAGCATTGAAGTCAGAGCACGATCAGGGTTATCCCTGGAATTACCTGTGCATCCTTTTTTCTTTTGACAGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGATGTGATCTCGGCTCACTTCAGCCTCCACCCGCCACGTTCAAGCAATTCTCCTGCCTCACCCTCCAGAGTTGCTGGGACCACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAATAATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTACCTGTGCATTCTGATGTTCTTTCTGGAGTAGGAGCAAGAGGTGGTTAAGAATGGCACAAAGCCCCAGCCCGCGTCACCTGTGCCTTCATGGCATAGTTATTATTTTAAACGCTTGTACAGCACACACTGTGTGCCAGGGACTGTGCTCACTGCTTTGCAAACACTACCTATTTTAATATAACAATGCTATGAGGGAAGCTCGATTATTTATCCTCATCTTATAGATAAGAAAACTGAGGCACAGAGAGGTTAAGTAACTTATCCAACTATAACCAGCTATCAGGGGCAGAGCCATTTAAGCAGGGCAGTGCAGTTCCAGAATCTGGTCCTTTAACCTTGATGCTTTGGTGCCTATCAGGTGACCTTTGAATGTCATCGATCTTGTGAGTCATGTTGGTAAATGGAGCTTGGGTCATGTGAAAGAGGTCCTAGAAAGCCAAGTTCCAAGCTCAGCCGGATGACTCAAGGCAGCTTATCTTCTGAATCTGGGCCTCAGCTTCCTTACCTGTGAAATGGGAGTCACCATCCCTGCAGGTCCTCCTCCCACAGGCACCAGCTATCTTGCCAACTTAAAAGCCAAAACTAGAGGAGAGGGGTCAACCCAAGGTGACTTCCCATCCTCCCTCCCTCCCAACCCTTCCAGGCAATGACTACATTGTCCCTCGGCACTGCCCGGAGCTGGCGGAGATGAGCCGGGTGTCCATACGCATCCTTGACGAGCTGGTGCTGCCCTTCCAGGAGCTGCAGATCGATGACAATGAGTATGCCTACCTCAAAGCCATCATCTTCTTTGACCCAGGTACAGTGCACACCTCCTAAGCCATCCCTGACTCTCTCTCCAGAACGCTCTGCCAGACTTCTCCTATTGGGTTCTGTACACTGAGTTCACAGCCTCATCTCATGTTAACGACAGCCAGGAGAGGCCGTTTTCATTTAACAGATGAGGCAAGTCAAGATTTGAAGAGACAATATGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGGGTTCAAGATGAGCCTGGCTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCCGCCACTGCATTCCAGCCTGGGTGACTCCATCTCAAAAAAACAAAAACAAAGGGAGGATATGACTTGACAGGGCACCCTGACTCCAAAGGCCTGGGCTTTCCCTTCTTTTACTTCTTCCCTCCATCCTTCTTTCTCTTTACTTCCCATCTTCCTCTTTTCTTTCATATTTGCTTCTTTTCCT
|
GGGCTTAGAGAGAGACAGAAATTTGCCTGAAGTCACAGAGCAAGTTAGCGACAGAACTGGGATTCAAATCCAGGTCTTCCGCTTCGCGATGTGAAGGCCACTGGAGTGACTGATGAAAGACTTGCACAGTGCCCAGTGCGCAGGAGGCGCTTGGCAATCAGCATCCTCGGCCTCCCTCCATACTGGTCATGGAAAGTGGATTTTCCCTCCCAGGCAGTTTCCTCTTTTTCTGTTTTCCTCACAGGTTTCTATCCATGGGGAATAGAAGGGGCAAGGACAAGTGGCTGCCCAGGAGCAGCTAGAGCTAGAGAGGAAGTCAAGATGTTTGCTCATTCATTCATTCATTTCCCCTTTCCTTCCTTCATTCAAATATTTATTGAAGGCTTATTTTGTGCCAAATATCTTCAGACAAATGCCTTCTTTCCTCTAACAACAATTTCACCTCCTTAGAGGCCTTCTCTGACCTCCCCATCTAACGTAGCCATTCTTGCCCCATTGCTCTCACCATCCTTTCCACTCCCCTCCCTCCCTCCTTCCCTTCCTCCCACCTTTTCTCCTTCCTTCTTTCCTTTATGCTGTGATCACCCTGTGTCCTCTGTACTTATTTGTTCTCTACTATCTGTTCATCCTCTCTCCTATAAATGTTAGTTCGATGAGATTAGAGACCTTGTCTCTCGTTTTTAAACATTGTGCCTCCATTGTCTTAAAAAGTGTCTGGCATTTAGTAGGCATTTAGGATTTGATAACTGAAAGAATGAACAATCAAATTAATGAACAAACAAAGGATTTTAACCTTCTAGTTTGGCTTGCTATGGAACCTCCAAACTCCCTAACCCAACCTTGAAGATGAGAAGATGAGATCCTTGAGGCTACCAGCCTGGTGCTGTTTTGTTTCAAGCCATCCTTTGGTCCTCAGGCAAGCACTAAAGCAGATGGCTCTCAGTGGGCTGGCTATGTCCTTCTGTGAGCTTGCTGGGCCCCTACCTATGACTCCAGTCTTAGAAGTCTTGCCTTGTACCCCCTGCAGAGAATGGTTTCATCAAGCTGATTCTCTGCCAGGGGCCAGTGCTCATACATTTGCTCTGAGAAGGACCAGCCCTGAGACCTAACATCCACATCCAAGTTCTTGTAATGCCCTCTCAGAATCCTGGAGTCCTGCAATGTCGATCCCTGGAGGGATCTGCCAGACCAATGATTTCCCAAACAGAATTGCACTTCAGAGTCAACTATGGAGCTTTTTAAACACAGATCCCTGGGCCCACCCTAAACATACAAAATCAGGATCAGAATCTCAGGGCCTAAGAATCTGTATTTTCAGGCCGGGCGCAGTGGTTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGTTGGGCTGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAGTCTCAGCTACTCTGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCGGAAGCTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAATAGAATCTGTATTTTTACAAAGCACCCTTCATAATTCTCCATAGCTGGTCCATGGGTGGGAATTTGGGACCCACAGTTTTGGAACTTTTTGGGATCATAGACCTTTTTGAGAATCTCAAAAAAGAAAAAAAAAGCACACAGAATGTTGCTTACAGTTTCATCAGGCACACAGAAGAGGCCCAGCACGAAGCAGTTTCTTGCCCAAGGACACAGCAGTTCAAGGACAGAGTCAGCGCGAGGTCTCTCAGCTCTGAGCACATGTTCTTTCCCCTTCCAGGTTTCTAGTTTTATGGGTAGTAGTTTTATGATGCCCATTTCACAGTTCAGGCAGGTAGAGGCAGAGGGGAGCATTAAGCTGACTTGCCCAGCGTCACTGAGTTGGCTACGGGCAGCCTTCCCAAGGGTACAGATGGCAAACACTGTTCCTTCTCTCTTTCGGTGGCCCTGCTCAGAGCCCATGCTGGCGAGCACCTGCTGCTCGGAGCCACCAAGAGATCCATGGTGTTCAAGGACGTGCTGCTCCTAGGTGAGGCGGCTGCCTGCCCTGGCCAGGGCTCCAGGGAGGGTATGCCTAGCATGGCACTCACCCAGGCAAGGAGATTCACATGGTGGCATGCAAGGGTGAGGGAGACTAGTCAGGAGTGGCCCTGTCCTCAGGCTTGCATTAGAGGGCTCCAGGACTCAGTTTTCAACTGGGTACCCCACTCAGATGCAAGGAAATGTGGATGCAAGTCACCAAATTCCCAGCATTGAAGTCAGAGCACGATCAGGGTTATCCCTGGAATTACCTGTGCATCCTTTTTTCTTTTGACAGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGATGTGATCTCGGCTCACTTCAGCCTCCACCCGCCACGTTCAAGCAATTCTCCTGCCTCACCCTCCAGAGTTGCTGGGACCACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAATAATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTACCTGTGCATTCTGATGTTCTTTCTGGAGTAGGAGCAAGAGGTGGTTAAGAATGGCACAAAGCCCCAGCCCGCGTCACCTGTGCCTTCATGGCATAGTTATTATTTTAAACGCTTGTACAGCACACACTGTGTGCCAGGGACTGTGCTCACTGCTTTGCAAACACTACCTATTTTAATATAACAATGCTATGAGGGAAGCTCGATTATTTATCCTCATCTTATAGATAAGAAAACTGAGGCACAGAGAGGTTAAGTAACTTATCCAACTATAACCAGCTATCAGGGGCAGAGCCATTTAAGCAGGGCAGTGCAGTTCCAGAATCTGGTCCTTTAACCTTGATGCTTTGGTGCCTATCAGGTGACCTTTGAATGTCATCGATCTTGTGAGTCATGTTGGTAAATGGAGCTTGGGTCATGTGAAAGAGGTCCTAGAAAGCCAAGTTCCAAGCTCAGCCGGATGACTCAAGGCAGCTTATCTTCTGAATCTGGGCCTCAGCTTCCTTACCTGTGAAATGGGAGTCACCATCCCTGCAGGTCCTCCTCCCACAGGCACCAGCTATCTTGCCAACTTAAAAGCCAAAACTAGAGGAGAGGGGTCAACCCAAGGTGACTTCCCATCCTCCCTCCCTCCCAACCCTTCCAGGCAATGACTACATTGTCCCTCGGCACTGCCCGGAGCTGGCGGAGATGAGCCGGGTGTCCATACGCATCCTTGACGAGCTGGTGCTGCCCTTCCAGGAGCTGCAGATCGATGACAATGAGTATGCCTACCTCAAAGCCATCATCTTCTTTGACCCAGGTACAGTGCACACCTCCTAAGCCATCCCTGACTCTCTCTCCAGAACGCTCTGCCAGACTTCTCCTATTGGGTTCTGTACACTGAGTTCACAGCCTCATCTCATGTTAACGACAGCCAGGAGAGGCCGTTTTCATTTAACAGATGAGGCAAGTCAAGATTTGAAGAGACAATATGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGGGTTCAAGATGAGCCTGGCTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCCGCCACTGCATTCCAGCCTGGGTGACTCCATCTCAAAAAAACAAAAACAAAGGGAGGATATGACTTGACAGGGCACCCTGACTCCAAAGGCCTGGGCTTTCCCTTCTTTTACTTCTTCCCTCCATCCTTCTTTCTCTTTACTTCCCATCTTCCTCTTTTCTTTCATATTTGCTTCTTTTCCTN
|
pathogenic
| 313,752 |
Mutation at chromosome 20, position 44418502, within HNF4A (hepatocyte nuclear factor 4 alpha): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Maturity-onset_diabetes_of_the_young_type_1', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes']
|
GCTTCGCGATGTGAAGGCCACTGGAGTGACTGATGAAAGACTTGCACAGTGCCCAGTGCGCAGGAGGCGCTTGGCAATCAGCATCCTCGGCCTCCCTCCATACTGGTCATGGAAAGTGGATTTTCCCTCCCAGGCAGTTTCCTCTTTTTCTGTTTTCCTCACAGGTTTCTATCCATGGGGAATAGAAGGGGCAAGGACAAGTGGCTGCCCAGGAGCAGCTAGAGCTAGAGAGGAAGTCAAGATGTTTGCTCATTCATTCATTCATTTCCCCTTTCCTTCCTTCATTCAAATATTTATTGAAGGCTTATTTTGTGCCAAATATCTTCAGACAAATGCCTTCTTTCCTCTAACAACAATTTCACCTCCTTAGAGGCCTTCTCTGACCTCCCCATCTAACGTAGCCATTCTTGCCCCATTGCTCTCACCATCCTTTCCACTCCCCTCCCTCCCTCCTTCCCTTCCTCCCACCTTTTCTCCTTCCTTCTTTCCTTTATGCTGTGATCACCCTGTGTCCTCTGTACTTATTTGTTCTCTACTATCTGTTCATCCTCTCTCCTATAAATGTTAGTTCGATGAGATTAGAGACCTTGTCTCTCGTTTTTAAACATTGTGCCTCCATTGTCTTAAAAAGTGTCTGGCATTTAGTAGGCATTTAGGATTTGATAACTGAAAGAATGAACAATCAAATTAATGAACAAACAAAGGATTTTAACCTTCTAGTTTGGCTTGCTATGGAACCTCCAAACTCCCTAACCCAACCTTGAAGATGAGAAGATGAGATCCTTGAGGCTACCAGCCTGGTGCTGTTTTGTTTCAAGCCATCCTTTGGTCCTCAGGCAAGCACTAAAGCAGATGGCTCTCAGTGGGCTGGCTATGTCCTTCTGTGAGCTTGCTGGGCCCCTACCTATGACTCCAGTCTTAGAAGTCTTGCCTTGTACCCCCTGCAGAGAATGGTTTCATCAAGCTGATTCTCTGCCAGGGGCCAGTGCTCATACATTTGCTCTGAGAAGGACCAGCCCTGAGACCTAACATCCACATCCAAGTTCTTGTAATGCCCTCTCAGAATCCTGGAGTCCTGCAATGTCGATCCCTGGAGGGATCTGCCAGACCAATGATTTCCCAAACAGAATTGCACTTCAGAGTCAACTATGGAGCTTTTTAAACACAGATCCCTGGGCCCACCCTAAACATACAAAATCAGGATCAGAATCTCAGGGCCTAAGAATCTGTATTTTCAGGCCGGGCGCAGTGGTTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGTTGGGCTGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAGTCTCAGCTACTCTGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCGGAAGCTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAATAGAATCTGTATTTTTACAAAGCACCCTTCATAATTCTCCATAGCTGGTCCATGGGTGGGAATTTGGGACCCACAGTTTTGGAACTTTTTGGGATCATAGACCTTTTTGAGAATCTCAAAAAAGAAAAAAAAAGCACACAGAATGTTGCTTACAGTTTCATCAGGCACACAGAAGAGGCCCAGCACGAAGCAGTTTCTTGCCCAAGGACACAGCAGTTCAAGGACAGAGTCAGCGCGAGGTCTCTCAGCTCTGAGCACATGTTCTTTCCCCTTCCAGGTTTCTAGTTTTATGGGTAGTAGTTTTATGATGCCCATTTCACAGTTCAGGCAGGTAGAGGCAGAGGGGAGCATTAAGCTGACTTGCCCAGCGTCACTGAGTTGGCTACGGGCAGCCTTCCCAAGGGTACAGATGGCAAACACTGTTCCTTCTCTCTTTCAGGTGGCCCTGCTCAGAGCCCATGCTGGCGAGCACCTGCTGCTCGGAGCCACCAAGAGATCCATGGTGTTCAAGGACGTGCTGCTCCTAGGTGAGGCGGCTGCCTGCCCTGGCCAGGGCTCCAGGGAGGGTATGCCTAGCATGGCACTCACCCAGGCAAGGAGATTCACATGGTGGCATGCAAGGGTGAGGGAGACTAGTCAGGAGTGGCCCTGTCCTCAGGCTTGCATTAGAGGGCTCCAGGACTCAGTTTTCAACTGGGTACCCCACTCAGATGCAAGGAAATGTGGATGCAAGTCACCAAATTCCCAGCATTGAAGTCAGAGCACGATCAGGGTTATCCCTGGAATTACCTGTGCATCCTTTTTTCTTTTGACAGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGATGTGATCTCGGCTCACTTCAGCCTCCACCCGCCACGTTCAAGCAATTCTCCTGCCTCACCCTCCAGAGTTGCTGGGACCACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAATAATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTACCTGTGCATTCTGATGTTCTTTCTGGAGTAGGAGCAAGAGGTGGTTAAGAATGGCACAAAGCCCCAGCCCGCGTCACCTGTGCCTTCATGGCATAGTTATTATTTTAAACGCTTGTACAGCACACACTGTGTGCCAGGGACTGTGCTCACTGCTTTGCAAACACTACCTATTTTAATATAACAATGCTATGAGGGAAGCTCGATTATTTATCCTCATCTTATAGATAAGAAAACTGAGGCACAGAGAGGTTAAGTAACTTATCCAACTATAACCAGCTATCAGGGGCAGAGCCATTTAAGCAGGGCAGTGCAGTTCCAGAATCTGGTCCTTTAACCTTGATGCTTTGGTGCCTATCAGGTGACCTTTGAATGTCATCGATCTTGTGAGTCATGTTGGTAAATGGAGCTTGGGTCATGTGAAAGAGGTCCTAGAAAGCCAAGTTCCAAGCTCAGCCGGATGACTCAAGGCAGCTTATCTTCTGAATCTGGGCCTCAGCTTCCTTACCTGTGAAATGGGAGTCACCATCCCTGCAGGTCCTCCTCCCACAGGCACCAGCTATCTTGCCAACTTAAAAGCCAAAACTAGAGGAGAGGGGTCAACCCAAGGTGACTTCCCATCCTCCCTCCCTCCCAACCCTTCCAGGCAATGACTACATTGTCCCTCGGCACTGCCCGGAGCTGGCGGAGATGAGCCGGGTGTCCATACGCATCCTTGACGAGCTGGTGCTGCCCTTCCAGGAGCTGCAGATCGATGACAATGAGTATGCCTACCTCAAAGCCATCATCTTCTTTGACCCAGGTACAGTGCACACCTCCTAAGCCATCCCTGACTCTCTCTCCAGAACGCTCTGCCAGACTTCTCCTATTGGGTTCTGTACACTGAGTTCACAGCCTCATCTCATGTTAACGACAGCCAGGAGAGGCCGTTTTCATTTAACAGATGAGGCAAGTCAAGATTTGAAGAGACAATATGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGGGTTCAAGATGAGCCTGGCTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCCGCCACTGCATTCCAGCCTGGGTGACTCCATCTCAAAAAAACAAAAACAAAGGGAGGATATGACTTGACAGGGCACCCTGACTCCAAAGGCCTGGGCTTTCCCTTCTTTTACTTCTTCCCTCCATCCTTCTTTCTCTTTACTTCCCATCTTCCTCTTTTCTTTCATATTTGCTTCTTTTCCTCAAAAAAATTTATCAAAATAATATCTAGAACCGGATGTGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGG
|
GCTTCGCGATGTGAAGGCCACTGGAGTGACTGATGAAAGACTTGCACAGTGCCCAGTGCGCAGGAGGCGCTTGGCAATCAGCATCCTCGGCCTCCCTCCATACTGGTCATGGAAAGTGGATTTTCCCTCCCAGGCAGTTTCCTCTTTTTCTGTTTTCCTCACAGGTTTCTATCCATGGGGAATAGAAGGGGCAAGGACAAGTGGCTGCCCAGGAGCAGCTAGAGCTAGAGAGGAAGTCAAGATGTTTGCTCATTCATTCATTCATTTCCCCTTTCCTTCCTTCATTCAAATATTTATTGAAGGCTTATTTTGTGCCAAATATCTTCAGACAAATGCCTTCTTTCCTCTAACAACAATTTCACCTCCTTAGAGGCCTTCTCTGACCTCCCCATCTAACGTAGCCATTCTTGCCCCATTGCTCTCACCATCCTTTCCACTCCCCTCCCTCCCTCCTTCCCTTCCTCCCACCTTTTCTCCTTCCTTCTTTCCTTTATGCTGTGATCACCCTGTGTCCTCTGTACTTATTTGTTCTCTACTATCTGTTCATCCTCTCTCCTATAAATGTTAGTTCGATGAGATTAGAGACCTTGTCTCTCGTTTTTAAACATTGTGCCTCCATTGTCTTAAAAAGTGTCTGGCATTTAGTAGGCATTTAGGATTTGATAACTGAAAGAATGAACAATCAAATTAATGAACAAACAAAGGATTTTAACCTTCTAGTTTGGCTTGCTATGGAACCTCCAAACTCCCTAACCCAACCTTGAAGATGAGAAGATGAGATCCTTGAGGCTACCAGCCTGGTGCTGTTTTGTTTCAAGCCATCCTTTGGTCCTCAGGCAAGCACTAAAGCAGATGGCTCTCAGTGGGCTGGCTATGTCCTTCTGTGAGCTTGCTGGGCCCCTACCTATGACTCCAGTCTTAGAAGTCTTGCCTTGTACCCCCTGCAGAGAATGGTTTCATCAAGCTGATTCTCTGCCAGGGGCCAGTGCTCATACATTTGCTCTGAGAAGGACCAGCCCTGAGACCTAACATCCACATCCAAGTTCTTGTAATGCCCTCTCAGAATCCTGGAGTCCTGCAATGTCGATCCCTGGAGGGATCTGCCAGACCAATGATTTCCCAAACAGAATTGCACTTCAGAGTCAACTATGGAGCTTTTTAAACACAGATCCCTGGGCCCACCCTAAACATACAAAATCAGGATCAGAATCTCAGGGCCTAAGAATCTGTATTTTCAGGCCGGGCGCAGTGGTTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGTTGGGCTGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAGTCTCAGCTACTCTGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCGGAAGCTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAATAGAATCTGTATTTTTACAAAGCACCCTTCATAATTCTCCATAGCTGGTCCATGGGTGGGAATTTGGGACCCACAGTTTTGGAACTTTTTGGGATCATAGACCTTTTTGAGAATCTCAAAAAAGAAAAAAAAAGCACACAGAATGTTGCTTACAGTTTCATCAGGCACACAGAAGAGGCCCAGCACGAAGCAGTTTCTTGCCCAAGGACACAGCAGTTCAAGGACAGAGTCAGCGCGAGGTCTCTCAGCTCTGAGCACATGTTCTTTCCCCTTCCAGGTTTCTAGTTTTATGGGTAGTAGTTTTATGATGCCCATTTCACAGTTCAGGCAGGTAGAGGCAGAGGGGAGCATTAAGCTGACTTGCCCAGCGTCACTGAGTTGGCTACGGGCAGCCTTCCCAAGGGTACAGATGGCAAACACTGTTCCTTCTCTCTTTCAGGTGGCCCTGCTCAGAGCCCATGCTGGCGAGCACCTGCTGCTCGGAGCCACCAAGAGATCCATGGTGTTCAAGGACGTTCAAGCTCCTAGGTGAGGCGGCTGCCTGCCCTGGCCAGGGCTCCAGGGAGGGTATGCCTAGCATGGCACTCACCCAGGCAAGGAGATTCACATGGTGGCATGCAAGGGTGAGGGAGACTAGTCAGGAGTGGCCCTGTCCTCAGGCTTGCATTAGAGGGCTCCAGGACTCAGTTTTCAACTGGGTACCCCACTCAGATGCAAGGAAATGTGGATGCAAGTCACCAAATTCCCAGCATTGAAGTCAGAGCACGATCAGGGTTATCCCTGGAATTACCTGTGCATCCTTTTTTCTTTTGACAGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGATGTGATCTCGGCTCACTTCAGCCTCCACCCGCCACGTTCAAGCAATTCTCCTGCCTCACCCTCCAGAGTTGCTGGGACCACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAATAATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTACCTGTGCATTCTGATGTTCTTTCTGGAGTAGGAGCAAGAGGTGGTTAAGAATGGCACAAAGCCCCAGCCCGCGTCACCTGTGCCTTCATGGCATAGTTATTATTTTAAACGCTTGTACAGCACACACTGTGTGCCAGGGACTGTGCTCACTGCTTTGCAAACACTACCTATTTTAATATAACAATGCTATGAGGGAAGCTCGATTATTTATCCTCATCTTATAGATAAGAAAACTGAGGCACAGAGAGGTTAAGTAACTTATCCAACTATAACCAGCTATCAGGGGCAGAGCCATTTAAGCAGGGCAGTGCAGTTCCAGAATCTGGTCCTTTAACCTTGATGCTTTGGTGCCTATCAGGTGACCTTTGAATGTCATCGATCTTGTGAGTCATGTTGGTAAATGGAGCTTGGGTCATGTGAAAGAGGTCCTAGAAAGCCAAGTTCCAAGCTCAGCCGGATGACTCAAGGCAGCTTATCTTCTGAATCTGGGCCTCAGCTTCCTTACCTGTGAAATGGGAGTCACCATCCCTGCAGGTCCTCCTCCCACAGGCACCAGCTATCTTGCCAACTTAAAAGCCAAAACTAGAGGAGAGGGGTCAACCCAAGGTGACTTCCCATCCTCCCTCCCTCCCAACCCTTCCAGGCAATGACTACATTGTCCCTCGGCACTGCCCGGAGCTGGCGGAGATGAGCCGGGTGTCCATACGCATCCTTGACGAGCTGGTGCTGCCCTTCCAGGAGCTGCAGATCGATGACAATGAGTATGCCTACCTCAAAGCCATCATCTTCTTTGACCCAGGTACAGTGCACACCTCCTAAGCCATCCCTGACTCTCTCTCCAGAACGCTCTGCCAGACTTCTCCTATTGGGTTCTGTACACTGAGTTCACAGCCTCATCTCATGTTAACGACAGCCAGGAGAGGCCGTTTTCATTTAACAGATGAGGCAAGTCAAGATTTGAAGAGACAATATGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGGGTTCAAGATGAGCCTGGCTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCCGCCACTGCATTCCAGCCTGGGTGACTCCATCTCAAAAAAACAAAAACAAAGGGAGGATATGACTTGACAGGGCACCCTGACTCCAAAGGCCTGGGCTTTCCCTTCTTTTACTTCTTCCCTCCATCCTTCTTTCTCTTTACTTCCCATCTTCCTCTTTTCTTTCATATTTGCTTCTTTTCCTCAAAAAAATTTATCAAAATAATATCTAGAACCGGATGTGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAG
|
pathogenic
| 313,755 |
Variant chromosome 20, position 44419771, gene HNF4A (hepatocyte nuclear factor 4 alpha): benign or pathogenic? Disease(s)?
|
pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes']
|
AGCACTTTGGGAGGCTGAGTTGGGCTGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAGTCTCAGCTACTCTGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCGGAAGCTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAATAGAATCTGTATTTTTACAAAGCACCCTTCATAATTCTCCATAGCTGGTCCATGGGTGGGAATTTGGGACCCACAGTTTTGGAACTTTTTGGGATCATAGACCTTTTTGAGAATCTCAAAAAAGAAAAAAAAAGCACACAGAATGTTGCTTACAGTTTCATCAGGCACACAGAAGAGGCCCAGCACGAAGCAGTTTCTTGCCCAAGGACACAGCAGTTCAAGGACAGAGTCAGCGCGAGGTCTCTCAGCTCTGAGCACATGTTCTTTCCCCTTCCAGGTTTCTAGTTTTATGGGTAGTAGTTTTATGATGCCCATTTCACAGTTCAGGCAGGTAGAGGCAGAGGGGAGCATTAAGCTGACTTGCCCAGCGTCACTGAGTTGGCTACGGGCAGCCTTCCCAAGGGTACAGATGGCAAACACTGTTCCTTCTCTCTTTCAGGTGGCCCTGCTCAGAGCCCATGCTGGCGAGCACCTGCTGCTCGGAGCCACCAAGAGATCCATGGTGTTCAAGGACGTGCTGCTCCTAGGTGAGGCGGCTGCCTGCCCTGGCCAGGGCTCCAGGGAGGGTATGCCTAGCATGGCACTCACCCAGGCAAGGAGATTCACATGGTGGCATGCAAGGGTGAGGGAGACTAGTCAGGAGTGGCCCTGTCCTCAGGCTTGCATTAGAGGGCTCCAGGACTCAGTTTTCAACTGGGTACCCCACTCAGATGCAAGGAAATGTGGATGCAAGTCACCAAATTCCCAGCATTGAAGTCAGAGCACGATCAGGGTTATCCCTGGAATTACCTGTGCATCCTTTTTTCTTTTGACAGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGATGTGATCTCGGCTCACTTCAGCCTCCACCCGCCACGTTCAAGCAATTCTCCTGCCTCACCCTCCAGAGTTGCTGGGACCACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAATAATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTACCTGTGCATTCTGATGTTCTTTCTGGAGTAGGAGCAAGAGGTGGTTAAGAATGGCACAAAGCCCCAGCCCGCGTCACCTGTGCCTTCATGGCATAGTTATTATTTTAAACGCTTGTACAGCACACACTGTGTGCCAGGGACTGTGCTCACTGCTTTGCAAACACTACCTATTTTAATATAACAATGCTATGAGGGAAGCTCGATTATTTATCCTCATCTTATAGATAAGAAAACTGAGGCACAGAGAGGTTAAGTAACTTATCCAACTATAACCAGCTATCAGGGGCAGAGCCATTTAAGCAGGGCAGTGCAGTTCCAGAATCTGGTCCTTTAACCTTGATGCTTTGGTGCCTATCAGGTGACCTTTGAATGTCATCGATCTTGTGAGTCATGTTGGTAAATGGAGCTTGGGTCATGTGAAAGAGGTCCTAGAAAGCCAAGTTCCAAGCTCAGCCGGATGACTCAAGGCAGCTTATCTTCTGAATCTGGGCCTCAGCTTCCTTACCTGTGAAATGGGAGTCACCATCCCTGCAGGTCCTCCTCCCACAGGCACCAGCTATCTTGCCAACTTAAAAGCCAAAACTAGAGGAGAGGGGTCAACCCAAGGTGACTTCCCATCCTCCCTCCCTCCCAACCCTTCCAGGCAATGACTACATTGTCCCTCGGCACTGCCCGGAGCTGGCGGAGATGAGCCGGGTGTCCATACGCATCCTTGACGAGCTGGTGCTGCCCTTCCAGGAGCTGCAGATCGATGACAATGAGTATGCCTACCTCAAAGCCATCATCTTCTTTGACCCAGGTACAGTGCACACCTCCTAAGCCATCCCTGACTCTCTCTCCAGAACGCTCTGCCAGACTTCTCCTATTGGGTTCTGTACACTGAGTTCACAGCCTCATCTCATGTTAACGACAGCCAGGAGAGGCCGTTTTCATTTAACAGATGAGGCAAGTCAAGATTTGAAGAGACAATATGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGGGTTCAAGATGAGCCTGGCTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCCGCCACTGCATTCCAGCCTGGGTGACTCCATCTCAAAAAAACAAAAACAAAGGGAGGATATGACTTGACAGGGCACCCTGACTCCAAAGGCCTGGGCTTTCCCTTCTTTTACTTCTTCCCTCCATCCTTCTTTCTCTTTACTTCCCATCTTCCTCTTTTCTTTCATATTTGCTTCTTTTCCTCAAAAAAATTTATCAAAATAATATCTAGAACCGGATGTGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGAGGATCACTTCAGGCCAGGAGTTCGAGGCCAGCCTGGCCAACATAACAAGACCTCGTCTCTATAGAAACTAAAAAAAATTAGCCAGGGATAGTGGTGAGCACCTGCAGTCCCAGCTACTCGGGAAGCCAAGGTGAGCACCTGCAGTCCCAGCTACTCAGGAGGCCAAGGTGGGAGGATCTCTTGAGCCCAGGAGGTGGAGGCTGCTGTGAGATGTGATTGCACCACTGCACTCCAGTCTGGGTGACAAAGCAAGACCTCATCTAAAAAATAATAATAAATAAATAAATAAATCTACACATACTTAAAATGCAAATACTTCTCCCCATCCTACTTTTCCAGCTCTAAGTCTACTCCCCAAGAGAAGCATGTCTGATTATTTTAATTGTTTCTTCTGGCAGTTTCCTCAACAATTCTAAATGAAAGACAAAGCCTTATATTTGTTGATGCATCCATTTTGGATCATAATGTTCCTCCTAGGATGGCAGAGGATTTTGCTTTTCTCCATCACCATTCCCATCTTTTCTTCCCCATTTTTCCCAATATATTTTTATTGCTATTTTTGAGTCTCTGTTGCAAGTTATGTGCTTTTATCTTTCCTTTCTTGTTCTATCAACTGTAGACGGTATCTCCCAACCCTTCACATTGCAGGATGAAGAAAAAGCATTCCTACCCTCTCCTGTGGCTCTTGGCTCTCCTCTCCCCATTCTGTCCACTGACTTTTGCACCTGCATTTATACAGAATGCATTTGTCATCAGTCTTTGTACAAAACTTGCTTTTGTTTCCCAGCATCAAAGGTGCCTGAACTCTGGAGGCTTGCTTGCCTTCCCTGCTTACATGTTAGAGGGGACCTACTGTGTGCCAGGCACTGTCCTTCACGCTGCAAATAGATTACCTCTAGTAATAATAGTAATGAAAAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAGGCAGATTACTTGACGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGTTGTGTGTGGTGGTCCGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGGGGTTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTTCATCTCAAAAAAATACATATATGTGTATATATATATAATATATATTATATATATATAATATATAGTGATA
|
AGCACTTTGGGAGGCTGAGTTGGGCTGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAGTCTCAGCTACTCTGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCGGAAGCTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAATAGAATCTGTATTTTTACAAAGCACCCTTCATAATTCTCCATAGCTGGTCCATGGGTGGGAATTTGGGACCCACAGTTTTGGAACTTTTTGGGATCATAGACCTTTTTGAGAATCTCAAAAAAGAAAAAAAAAGCACACAGAATGTTGCTTACAGTTTCATCAGGCACACAGAAGAGGCCCAGCACGAAGCAGTTTCTTGCCCAAGGACACAGCAGTTCAAGGACAGAGTCAGCGCGAGGTCTCTCAGCTCTGAGCACATGTTCTTTCCCCTTCCAGGTTTCTAGTTTTATGGGTAGTAGTTTTATGATGCCCATTTCACAGTTCAGGCAGGTAGAGGCAGAGGGGAGCATTAAGCTGACTTGCCCAGCGTCACTGAGTTGGCTACGGGCAGCCTTCCCAAGGGTACAGATGGCAAACACTGTTCCTTCTCTCTTTCAGGTGGCCCTGCTCAGAGCCCATGCTGGCGAGCACCTGCTGCTCGGAGCCACCAAGAGATCCATGGTGTTCAAGGACGTGCTGCTCCTAGGTGAGGCGGCTGCCTGCCCTGGCCAGGGCTCCAGGGAGGGTATGCCTAGCATGGCACTCACCCAGGCAAGGAGATTCACATGGTGGCATGCAAGGGTGAGGGAGACTAGTCAGGAGTGGCCCTGTCCTCAGGCTTGCATTAGAGGGCTCCAGGACTCAGTTTTCAACTGGGTACCCCACTCAGATGCAAGGAAATGTGGATGCAAGTCACCAAATTCCCAGCATTGAAGTCAGAGCACGATCAGGGTTATCCCTGGAATTACCTGTGCATCCTTTTTTCTTTTGACAGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGATGTGATCTCGGCTCACTTCAGCCTCCACCCGCCACGTTCAAGCAATTCTCCTGCCTCACCCTCCAGAGTTGCTGGGACCACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAATAATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTACCTGTGCATTCTGATGTTCTTTCTGGAGTAGGAGCAAGAGGTGGTTAAGAATGGCACAAAGCCCCAGCCCGCGTCACCTGTGCCTTCATGGCATAGTTATTATTTTAAACGCTTGTACAGCACACACTGTGTGCCAGGGACTGTGCTCACTGCTTTGCAAACACTACCTATTTTAATATAACAATGCTATGAGGGAAGCTCGATTATTTATCCTCATCTTATAGATAAGAAAACTGAGGCACAGAGAGGTTAAGTAACTTATCCAACTATAACCAGCTATCAGGGGCAGAGCCATTTAAGCAGGGCAGTGCAGTTCCAGAATCTGGTCCTTTAACCTTGATGCTTTGGTGCCTATCAGGTGACCTTTGAATGTCATCGATCTTGTGAGTCATGTTGGTAAATGGAGCTTGGGTCATGTGAAAGAGGTCCTAGAAAGCCAAGTTCCAAGCTCAGCCGGATGACTCAAGGCAGCTTATCTTCTGAATCTGGGCCTCAGCTTCCTTACCTGTGAAATGGGAGTCACCATCCCTGCAGGTCCTCCTCCCACAGGCACCAGCTATCTTGCCAACTTAAAAGCCAAAACTAGAGGAGAGGGGTCAACCCAAGGTGACTTCCCATCCTCCCTCCCTCCCAACCCTTCCAGGCAATGACTACATTGTCCCTCGGCACTGCCCGGAGCTGGCGGAGATGAGCCGGTGTCCATACGCATCCTTGACGAGCTGGTGCTGCCCTTCCAGGAGCTGCAGATCGATGACAATGAGTATGCCTACCTCAAAGCCATCATCTTCTTTGACCCAGGTACAGTGCACACCTCCTAAGCCATCCCTGACTCTCTCTCCAGAACGCTCTGCCAGACTTCTCCTATTGGGTTCTGTACACTGAGTTCACAGCCTCATCTCATGTTAACGACAGCCAGGAGAGGCCGTTTTCATTTAACAGATGAGGCAAGTCAAGATTTGAAGAGACAATATGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGGGTTCAAGATGAGCCTGGCTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCCGCCACTGCATTCCAGCCTGGGTGACTCCATCTCAAAAAAACAAAAACAAAGGGAGGATATGACTTGACAGGGCACCCTGACTCCAAAGGCCTGGGCTTTCCCTTCTTTTACTTCTTCCCTCCATCCTTCTTTCTCTTTACTTCCCATCTTCCTCTTTTCTTTCATATTTGCTTCTTTTCCTCAAAAAAATTTATCAAAATAATATCTAGAACCGGATGTGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGAGGATCACTTCAGGCCAGGAGTTCGAGGCCAGCCTGGCCAACATAACAAGACCTCGTCTCTATAGAAACTAAAAAAAATTAGCCAGGGATAGTGGTGAGCACCTGCAGTCCCAGCTACTCGGGAAGCCAAGGTGAGCACCTGCAGTCCCAGCTACTCAGGAGGCCAAGGTGGGAGGATCTCTTGAGCCCAGGAGGTGGAGGCTGCTGTGAGATGTGATTGCACCACTGCACTCCAGTCTGGGTGACAAAGCAAGACCTCATCTAAAAAATAATAATAAATAAATAAATAAATCTACACATACTTAAAATGCAAATACTTCTCCCCATCCTACTTTTCCAGCTCTAAGTCTACTCCCCAAGAGAAGCATGTCTGATTATTTTAATTGTTTCTTCTGGCAGTTTCCTCAACAATTCTAAATGAAAGACAAAGCCTTATATTTGTTGATGCATCCATTTTGGATCATAATGTTCCTCCTAGGATGGCAGAGGATTTTGCTTTTCTCCATCACCATTCCCATCTTTTCTTCCCCATTTTTCCCAATATATTTTTATTGCTATTTTTGAGTCTCTGTTGCAAGTTATGTGCTTTTATCTTTCCTTTCTTGTTCTATCAACTGTAGACGGTATCTCCCAACCCTTCACATTGCAGGATGAAGAAAAAGCATTCCTACCCTCTCCTGTGGCTCTTGGCTCTCCTCTCCCCATTCTGTCCACTGACTTTTGCACCTGCATTTATACAGAATGCATTTGTCATCAGTCTTTGTACAAAACTTGCTTTTGTTTCCCAGCATCAAAGGTGCCTGAACTCTGGAGGCTTGCTTGCCTTCCCTGCTTACATGTTAGAGGGGACCTACTGTGTGCCAGGCACTGTCCTTCACGCTGCAAATAGATTACCTCTAGTAATAATAGTAATGAAAAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAGGCAGATTACTTGACGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGTTGTGTGTGGTGGTCCGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGGGGTTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTTCATCTCAAAAAAATACATATATGTGTATATATATATAATATATATTATATATATATAATATATAGTGATAN
|
pathogenic
| 313,763 |
Clinical impact (benign or pathogenic) of the variant at chromosome 20, location 44419905, gene HNF4A (hepatocyte nuclear factor 4 alpha): what disease(s) if pathogenic?
|
benign
|
TACTCTGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCGGAAGCTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAATAGAATCTGTATTTTTACAAAGCACCCTTCATAATTCTCCATAGCTGGTCCATGGGTGGGAATTTGGGACCCACAGTTTTGGAACTTTTTGGGATCATAGACCTTTTTGAGAATCTCAAAAAAGAAAAAAAAAGCACACAGAATGTTGCTTACAGTTTCATCAGGCACACAGAAGAGGCCCAGCACGAAGCAGTTTCTTGCCCAAGGACACAGCAGTTCAAGGACAGAGTCAGCGCGAGGTCTCTCAGCTCTGAGCACATGTTCTTTCCCCTTCCAGGTTTCTAGTTTTATGGGTAGTAGTTTTATGATGCCCATTTCACAGTTCAGGCAGGTAGAGGCAGAGGGGAGCATTAAGCTGACTTGCCCAGCGTCACTGAGTTGGCTACGGGCAGCCTTCCCAAGGGTACAGATGGCAAACACTGTTCCTTCTCTCTTTCAGGTGGCCCTGCTCAGAGCCCATGCTGGCGAGCACCTGCTGCTCGGAGCCACCAAGAGATCCATGGTGTTCAAGGACGTGCTGCTCCTAGGTGAGGCGGCTGCCTGCCCTGGCCAGGGCTCCAGGGAGGGTATGCCTAGCATGGCACTCACCCAGGCAAGGAGATTCACATGGTGGCATGCAAGGGTGAGGGAGACTAGTCAGGAGTGGCCCTGTCCTCAGGCTTGCATTAGAGGGCTCCAGGACTCAGTTTTCAACTGGGTACCCCACTCAGATGCAAGGAAATGTGGATGCAAGTCACCAAATTCCCAGCATTGAAGTCAGAGCACGATCAGGGTTATCCCTGGAATTACCTGTGCATCCTTTTTTCTTTTGACAGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGATGTGATCTCGGCTCACTTCAGCCTCCACCCGCCACGTTCAAGCAATTCTCCTGCCTCACCCTCCAGAGTTGCTGGGACCACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAATAATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTACCTGTGCATTCTGATGTTCTTTCTGGAGTAGGAGCAAGAGGTGGTTAAGAATGGCACAAAGCCCCAGCCCGCGTCACCTGTGCCTTCATGGCATAGTTATTATTTTAAACGCTTGTACAGCACACACTGTGTGCCAGGGACTGTGCTCACTGCTTTGCAAACACTACCTATTTTAATATAACAATGCTATGAGGGAAGCTCGATTATTTATCCTCATCTTATAGATAAGAAAACTGAGGCACAGAGAGGTTAAGTAACTTATCCAACTATAACCAGCTATCAGGGGCAGAGCCATTTAAGCAGGGCAGTGCAGTTCCAGAATCTGGTCCTTTAACCTTGATGCTTTGGTGCCTATCAGGTGACCTTTGAATGTCATCGATCTTGTGAGTCATGTTGGTAAATGGAGCTTGGGTCATGTGAAAGAGGTCCTAGAAAGCCAAGTTCCAAGCTCAGCCGGATGACTCAAGGCAGCTTATCTTCTGAATCTGGGCCTCAGCTTCCTTACCTGTGAAATGGGAGTCACCATCCCTGCAGGTCCTCCTCCCACAGGCACCAGCTATCTTGCCAACTTAAAAGCCAAAACTAGAGGAGAGGGGTCAACCCAAGGTGACTTCCCATCCTCCCTCCCTCCCAACCCTTCCAGGCAATGACTACATTGTCCCTCGGCACTGCCCGGAGCTGGCGGAGATGAGCCGGGTGTCCATACGCATCCTTGACGAGCTGGTGCTGCCCTTCCAGGAGCTGCAGATCGATGACAATGAGTATGCCTACCTCAAAGCCATCATCTTCTTTGACCCAGGTACAGTGCACACCTCCTAAGCCATCCCTGACTCTCTCTCCAGAACGCTCTGCCAGACTTCTCCTATTGGGTTCTGTACACTGAGTTCACAGCCTCATCTCATGTTAACGACAGCCAGGAGAGGCCGTTTTCATTTAACAGATGAGGCAAGTCAAGATTTGAAGAGACAATATGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGGGTTCAAGATGAGCCTGGCTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCCGCCACTGCATTCCAGCCTGGGTGACTCCATCTCAAAAAAACAAAAACAAAGGGAGGATATGACTTGACAGGGCACCCTGACTCCAAAGGCCTGGGCTTTCCCTTCTTTTACTTCTTCCCTCCATCCTTCTTTCTCTTTACTTCCCATCTTCCTCTTTTCTTTCATATTTGCTTCTTTTCCTCAAAAAAATTTATCAAAATAATATCTAGAACCGGATGTGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGAGGATCACTTCAGGCCAGGAGTTCGAGGCCAGCCTGGCCAACATAACAAGACCTCGTCTCTATAGAAACTAAAAAAAATTAGCCAGGGATAGTGGTGAGCACCTGCAGTCCCAGCTACTCGGGAAGCCAAGGTGAGCACCTGCAGTCCCAGCTACTCAGGAGGCCAAGGTGGGAGGATCTCTTGAGCCCAGGAGGTGGAGGCTGCTGTGAGATGTGATTGCACCACTGCACTCCAGTCTGGGTGACAAAGCAAGACCTCATCTAAAAAATAATAATAAATAAATAAATAAATCTACACATACTTAAAATGCAAATACTTCTCCCCATCCTACTTTTCCAGCTCTAAGTCTACTCCCCAAGAGAAGCATGTCTGATTATTTTAATTGTTTCTTCTGGCAGTTTCCTCAACAATTCTAAATGAAAGACAAAGCCTTATATTTGTTGATGCATCCATTTTGGATCATAATGTTCCTCCTAGGATGGCAGAGGATTTTGCTTTTCTCCATCACCATTCCCATCTTTTCTTCCCCATTTTTCCCAATATATTTTTATTGCTATTTTTGAGTCTCTGTTGCAAGTTATGTGCTTTTATCTTTCCTTTCTTGTTCTATCAACTGTAGACGGTATCTCCCAACCCTTCACATTGCAGGATGAAGAAAAAGCATTCCTACCCTCTCCTGTGGCTCTTGGCTCTCCTCTCCCCATTCTGTCCACTGACTTTTGCACCTGCATTTATACAGAATGCATTTGTCATCAGTCTTTGTACAAAACTTGCTTTTGTTTCCCAGCATCAAAGGTGCCTGAACTCTGGAGGCTTGCTTGCCTTCCCTGCTTACATGTTAGAGGGGACCTACTGTGTGCCAGGCACTGTCCTTCACGCTGCAAATAGATTACCTCTAGTAATAATAGTAATGAAAAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAGGCAGATTACTTGACGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGTTGTGTGTGGTGGTCCGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGGGGTTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTTCATCTCAAAAAAATACATATATGTGTATATATATATAATATATATTATATATATATAATATATAGTGATATATATAGTATATAGTGATATATTACGTATAATATATATTATATATAGTGATATATATTTTATATATATATAGTGATATATATTATATATAGAGAGAGTGATGAAGTGGAAGATGAGCCCCATGTATTGAATGCT
|
TACTCTGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCGGAAGCTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAATAGAATCTGTATTTTTACAAAGCACCCTTCATAATTCTCCATAGCTGGTCCATGGGTGGGAATTTGGGACCCACAGTTTTGGAACTTTTTGGGATCATAGACCTTTTTGAGAATCTCAAAAAAGAAAAAAAAAGCACACAGAATGTTGCTTACAGTTTCATCAGGCACACAGAAGAGGCCCAGCACGAAGCAGTTTCTTGCCCAAGGACACAGCAGTTCAAGGACAGAGTCAGCGCGAGGTCTCTCAGCTCTGAGCACATGTTCTTTCCCCTTCCAGGTTTCTAGTTTTATGGGTAGTAGTTTTATGATGCCCATTTCACAGTTCAGGCAGGTAGAGGCAGAGGGGAGCATTAAGCTGACTTGCCCAGCGTCACTGAGTTGGCTACGGGCAGCCTTCCCAAGGGTACAGATGGCAAACACTGTTCCTTCTCTCTTTCAGGTGGCCCTGCTCAGAGCCCATGCTGGCGAGCACCTGCTGCTCGGAGCCACCAAGAGATCCATGGTGTTCAAGGACGTGCTGCTCCTAGGTGAGGCGGCTGCCTGCCCTGGCCAGGGCTCCAGGGAGGGTATGCCTAGCATGGCACTCACCCAGGCAAGGAGATTCACATGGTGGCATGCAAGGGTGAGGGAGACTAGTCAGGAGTGGCCCTGTCCTCAGGCTTGCATTAGAGGGCTCCAGGACTCAGTTTTCAACTGGGTACCCCACTCAGATGCAAGGAAATGTGGATGCAAGTCACCAAATTCCCAGCATTGAAGTCAGAGCACGATCAGGGTTATCCCTGGAATTACCTGTGCATCCTTTTTTCTTTTGACAGAGTCTTGCTCTGTCACTCAGGCTGGAGTGCAATGATGTGATCTCGGCTCACTTCAGCCTCCACCCGCCACGTTCAAGCAATTCTCCTGCCTCACCCTCCAGAGTTGCTGGGACCACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAATAATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTACCTGTGCATTCTGATGTTCTTTCTGGAGTAGGAGCAAGAGGTGGTTAAGAATGGCACAAAGCCCCAGCCCGCGTCACCTGTGCCTTCATGGCATAGTTATTATTTTAAACGCTTGTACAGCACACACTGTGTGCCAGGGACTGTGCTCACTGCTTTGCAAACACTACCTATTTTAATATAACAATGCTATGAGGGAAGCTCGATTATTTATCCTCATCTTATAGATAAGAAAACTGAGGCACAGAGAGGTTAAGTAACTTATCCAACTATAACCAGCTATCAGGGGCAGAGCCATTTAAGCAGGGCAGTGCAGTTCCAGAATCTGGTCCTTTAACCTTGATGCTTTGGTGCCTATCAGGTGACCTTTGAATGTCATCGATCTTGTGAGTCATGTTGGTAAATGGAGCTTGGGTCATGTGAAAGAGGTCCTAGAAAGCCAAGTTCCAAGCTCAGCCGGATGACTCAAGGCAGCTTATCTTCTGAATCTGGGCCTCAGCTTCCTTACCTGTGAAATGGGAGTCACCATCCCTGCAGGTCCTCCTCCCACAGGCACCAGCTATCTTGCCAACTTAAAAGCCAAAACTAGAGGAGAGGGGTCAACCCAAGGTGACTTCCCATCCTCCCTCCCTCCCAACCCTTCCAGGCAATGACTACATTGTCCCTCGGCACTGCCCGGAGCTGGCGGAGATGAGCCGGGTGTCCATACGCATCCTTGACGAGCTGGTGCTGCCCTTCCAGGAGCTGCAGATCGATGACAATGAGTATGCCTACCTCAAAGCCATCATCTTCTTTGACCCAGGTACAGTGCACACCTCCTAAGCCATCCCTGGACTCTCTCTCCAGAACGCTCTGCCAGACTTCTCCTATTGGGTTCTGTACACTGAGTTCACAGCCTCATCTCATGTTAACGACAGCCAGGAGAGGCCGTTTTCATTTAACAGATGAGGCAAGTCAAGATTTGAAGAGACAATATGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGGGTTCAAGATGAGCCTGGCTAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCCGCCACTGCATTCCAGCCTGGGTGACTCCATCTCAAAAAAACAAAAACAAAGGGAGGATATGACTTGACAGGGCACCCTGACTCCAAAGGCCTGGGCTTTCCCTTCTTTTACTTCTTCCCTCCATCCTTCTTTCTCTTTACTTCCCATCTTCCTCTTTTCTTTCATATTTGCTTCTTTTCCTCAAAAAAATTTATCAAAATAATATCTAGAACCGGATGTGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGAGGATCACTTCAGGCCAGGAGTTCGAGGCCAGCCTGGCCAACATAACAAGACCTCGTCTCTATAGAAACTAAAAAAAATTAGCCAGGGATAGTGGTGAGCACCTGCAGTCCCAGCTACTCGGGAAGCCAAGGTGAGCACCTGCAGTCCCAGCTACTCAGGAGGCCAAGGTGGGAGGATCTCTTGAGCCCAGGAGGTGGAGGCTGCTGTGAGATGTGATTGCACCACTGCACTCCAGTCTGGGTGACAAAGCAAGACCTCATCTAAAAAATAATAATAAATAAATAAATAAATCTACACATACTTAAAATGCAAATACTTCTCCCCATCCTACTTTTCCAGCTCTAAGTCTACTCCCCAAGAGAAGCATGTCTGATTATTTTAATTGTTTCTTCTGGCAGTTTCCTCAACAATTCTAAATGAAAGACAAAGCCTTATATTTGTTGATGCATCCATTTTGGATCATAATGTTCCTCCTAGGATGGCAGAGGATTTTGCTTTTCTCCATCACCATTCCCATCTTTTCTTCCCCATTTTTCCCAATATATTTTTATTGCTATTTTTGAGTCTCTGTTGCAAGTTATGTGCTTTTATCTTTCCTTTCTTGTTCTATCAACTGTAGACGGTATCTCCCAACCCTTCACATTGCAGGATGAAGAAAAAGCATTCCTACCCTCTCCTGTGGCTCTTGGCTCTCCTCTCCCCATTCTGTCCACTGACTTTTGCACCTGCATTTATACAGAATGCATTTGTCATCAGTCTTTGTACAAAACTTGCTTTTGTTTCCCAGCATCAAAGGTGCCTGAACTCTGGAGGCTTGCTTGCCTTCCCTGCTTACATGTTAGAGGGGACCTACTGTGTGCCAGGCACTGTCCTTCACGCTGCAAATAGATTACCTCTAGTAATAATAGTAATGAAAAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCAGGCAGATTACTTGACGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGTTGTGTGTGGTGGTCCGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGGGGTTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTTCATCTCAAAAAAATACATATATGTGTATATATATATAATATATATTATATATATATAATATATAGTGATATATATAGTATATAGTGATATATTACGTATAATATATATTATATATAGTGATATATATTTTATATATATATAGTGATATATATTATATATAGAGAGAGTGATGAAGTGGAAGATGAGCCCCATGTATTGAATGC
|
benign
| 313,775 |
Clinical classification of chromosome 20, position 44424067, gene HNF4A (hepatocyte nuclear factor 4 alpha): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Monogenic_diabetes']
|
TAGGAATTATTATTATCTCCATTTTACAGATAAGGAAACTGAGGCATGATTAACTTGCTCAAGGTCACACAACCGGAAAATGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGAC
|
TAGGAATTATTATTATCTCCATTTTACAGATAAGGAAACTGAGGCATGATTAACTTGCTCAAGGTCACACAACCGGAAAATGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGTGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGA
|
pathogenic
| 313,785 |
Variant in HNF4A (hepatocyte nuclear factor 4 alpha), chromosome 20, position 44424104—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Monogenic_diabetes']
|
ACTGAGGCATGATTAACTTGCTCAAGGTCACACAACCGGAAAATGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAG
|
ACTGAGGCATGATTAACTTGCTCAAGGTCACACAACCGGAAAATGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCA
|
pathogenic
| 313,789 |
A genetic variant at chromosome 20, position 44424132, affecting gene HNF4A (hepatocyte nuclear factor 4 alpha)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Fanconi_renotubular_syndrome_4_with_maturity-onset_diabetes_of_the_young', 'Hyperinsulinism_due_to_HNF4A_deficiency', 'Maturity-onset_diabetes_of_the_young_type_1', 'Monogenic_diabetes', 'Type_2_diabetes_mellitus']
|
CACACAACCGGAAAATGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAAGGA
|
CACACAACCGGAAAATGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAA
|
pathogenic
| 313,799 |
Considering the genetic mutation at chromosome 20, position 44424158, impacting HNF4A (hepatocyte nuclear factor 4 alpha): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes']
|
GGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAAGGACAGAGTGTTTAATGGTGTTAAACTCT
|
GGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAAGGACAGAGTGTTTAATGGTGTTAAACTCTN
|
pathogenic
| 313,801 |
Is the genetic change at chromosome 20, position 44424242, within gene HNF4A (hepatocyte nuclear factor 4 alpha) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Maturity_onset_diabetes_mellitus_in_young']
|
ACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAAGGACAGAGTGTTTAATGGTGTTAAACTCTACAGAGAAACAGAAAGAAGCGGGGAAGAAAGGAGAGGTGAAGAGAGGAGGGGAAGAGAGAGGAAAGGGTCCATTGGATTGACAG
|
ACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGTGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAAGGACAGAGTGTTTAATGGTGTTAAACTCTACAGAGAAACAGAAAGAAGCGGGGAAGAAAGGAGAGGTGAAGAGAGGAGGGGAAGAGAGAGGAAAGGGTCCATTGGATTGAC
|
pathogenic
| 313,814 |
Chromosome 20, position 44424249, gene HNF4A (hepatocyte nuclear factor 4 alpha): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Monogenic_diabetes']
|
GGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAAGGACAGAGTGTTTAATGGTGTTAAACTCTACAGAGAAACAGAAAGAAGCGGGGAAGAAAGGAGAGGTGAAGAGAGGAGGGGAAGAGAGAGGAAAGGGTCCATTGGATTGACAGCTGGAGG
|
GGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCATTACCTCCATGAAGGTTGAGATTAAATATTGTATGACCGCTTAAGTTCCTTTCTAGGCTAAGGATCTAGAATTTATTCACTGATTTTTTTTTCATTCATTCATCCAGCCATCTAACAAAAAATATACATATAGTTATCAATAAATATATATTTATATATAAATATATATTTTTTAAAATATATATATATATAGTCTGTCACCCAGGCTGGAGTGCAGTGGCACCGTCTTGGCTCACTGCGACCTCCACCTCCCAGTTTCAAGCGATTCTCCCACCTCACCTCCTGAGTCGCTGGGATTACAGGCATGTGTCACCACGCCAGGTGAATTTTTGTATTATCAGTAGAGATGGGGTTTCACCATATTGACCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCCCCCGCCTCGGCCTCTGACAGTGCTGGGCTTACAGGCATGAGCCACCATGCCTGGCCCTATTCAATAAATATTGACTATGCATGGTGCTAGGTGGTGAGTTTGAAAAGGCAAAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGCAGATTACTTGAGGTCAGAAGTTTGAGATGAGCCTGACCAGCATGGTGAAACCCCGTCTCTACTAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCACGCCACTGCACTCCAGGCTGGGGGTCAGAGGGAGACTCAGTCTCAAAATAAAATAAAATAAAATAAAAATGGCAAATAAGACATACGCGTGCCCCTGCCAAACTCACAGTTGGATGGCACAACAATTACATCCTGTGTGGTCAGCAGTGATGGAGGGGCCGCAGAGATTTGGAAACAGGAGGGACACAGGATACAGATATAGGAGGGTAGAAGGCAGACTTCCTGGAGGAGGTGAAACCTAACCTGAGTCCCTAAGGTGATAGGAAGCAGGAACCAGGGAAGGGGAGCCTATTCTAACACAGTAGAAGCAGCAACTGCTGAGGTCTGGATGAGGGGACCTCAACTGTGGCCCAAAACCCCAAGTTCCCATTGTGGCTCTGCCAACAACTGGCTGTGCGACCCAGGACAAGTCCTATCTTTGCACTGTGTCTGGGTTTCCCCGTGTGTAAGATGAGGCGGTTGCTAGGTGCTTATTGGATGCATTCCTCAAGTCCCGCCCTCCATCTCCTATTCCCCTCTCTTCTGGTTTAGTGCTTTAGGAAATGTGGCAGAAATCTTTTTCTGCCTGTGTCTAGGAAATCATAATTCATGCTGGCGTACCCTGGTTGTTGAGGTCCCTGAATCCTTGTGCCCACACTGCTGAAGACTCCTTGTGTGATACAAGTCAGGGGACATCTGGGTCTTGACTCCCCAGATGCTCCAGCTGGACCCTGCTGCCCTCCCTTGCCCACCCTCTTCCATTGTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCCACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGCATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGAGGTCCGTGCCAAGCCCAGGAGGGGCGGGGTTGGAGTGGGGACTCCCCAGGAGACAGGCCTCACACAGTGAGCTCACCCCTCAGCTCCTTGGCTTCCCCACTGTGCCGCTTTGGGCAAGTTGCTTAACCTGTCTGTGCCTCAGTTTCCTCACCAGAAAAATGGGAACAAGGCAATGGTCTATTTGTTCAGGCACCGAGAACCTAGCACGTGCCAGTCACTGTTCTAAGTGCTGGCAATTCAGCAAAGAACAAGATCTTTGCCCTCGGGGAGGCTGTGTGTGTGTGAGTATGTATGGATGCGTGGATATCTGTGTATATGCCCGTATGTGCGTGCATGTGTATATAAAGCCTCACATTTTATGATTTTGAAATAAACAGGTAATATGATAGAGTTTAACTGAAAAGGAATCCTCTTTAGATAGGGGAGGCCACAGGAGACCTCTCTGAAGTGGTGACTCTTGTGCTAAGACCCTAACGGCTGAAAGGAAATGGAAGGCTTAAAAGACAAGAGAGGAATATTCCAAGAAGAAGAAACTACTTCAAGGGCTGCGGATAGGAGAGAGTGTTGTGTTTGAGAAAGAAGGGCAAGGTTGTGAGATGGAGGACGTGTAGGAGGTGAAGATGGAGATTGGGCAGAAACCAAATCATAAACATATGGCTTTGTCAGCCTTTTCAGAAATTTGGATTTTATTCTCATTGCAACTATTGTAAGGAGAGTGAAAACCAGACTAAGTATTTTTATTCTTTGAGACAAAGTCTCCCTCAATCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTGACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCACAGCCTCCTGAGTAGTTGGGATTACAGGCGCCCGCCACCACGCCCTGCTCATTTTTTTATATTTTTAGTAAAGACAGGGTTTCACCCTATTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCACCCACCTCAGTCTCCCAAAGTGCTGGAATGACAGGTGTGAGCCGCCACACCCATCCCAGACTAATGCTTCAAACAAACCACTCTGTTGGGTAGAGAGTGAATTGCAGATTCCTGAGAATGTCACTGTCTCCAATCATGTGATGGATGATGGAGGCTTGGACCCTGGCAATGGAGCAGTGAAGATAAACCTGATCATCTATTTGGAGGAAGAGCCCACACCCACAGGATTTGCTGATTGATCAGACATAGGGAGTGAGAGAAAGAGGAAGAGTCAAGGACAAAGTCTACATTTTTGCTTTGAGTAGCAGAAATGACGATGGAGTAATTTACTGAAATGAGGAGGACAGAATAAACAACAAGACACTGGGTCTGGGGGTGGTAGTGAGGGGTGACCTCAGAGATCCATTGTGGACCCTCTTTTCTTTTTTCCTTTTTTTTTTTTTTTTGAGACGAGATCTCTCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCAATCATAGTTCACTGTAGCCTCAACCTTCCAGGCTCAAGAGATCCTCCTACCCCAGCCTTTCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTCTTCATTCTTATTTTTTATAGAGACAAGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTAGCCTTAAGCAATCCTTCCGACTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTCATTGTGGACTTTCATTAAGCATGAGATGACTATTACAAATCCAAGTTATCAAGGAGGCTGTTGAATGTATGAGTCTGTTGCTCAAGCACAAGATTAAAGGCAGCTCTGTGGAATCAGGGGGAAGATGGAGCCATGGAGGGAAGGGAAGAAGACTGGCCAGAGGGGTAGGAGAAAACCAGGGCAATTCCAGAATCCAAGAGAAGAGCGTGTTTGAAGGACAGAGTGTTTAATGGTGTTAAACTCTACAGAGAAACAGAAAGAAGCGGGGAAGAAAGGAGAGGTGAAGAGAGGAGGGGAAGAGAGAGGAAAGGGTCCATTGGATTGACAGCTGGAGGN
|
pathogenic
| 313,816 |
Determine whether the variant at chromosome 20, position 44432803, in gene HNF4A (hepatocyte nuclear factor 4 alpha) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
benign
|
AGGCTGGAAGCTGGGAGGTCAGGTGGGGTGGATGATATAATGCGGGTGAGAGTAATGAGGCTTGGGGCTGGAGAGGACAAGATGGGTAAACCCTCACATCAGAGTGACATCCAGGAGGAATAAGCTCCCAGGGCCTGTCTCAAGCTCTTCCTTACTCCCAGGCACTGTCTTAAGGCATCTGACATGCATCATCTCATTTAATCCTCCCTTCCTCCCTATTAACCTAGAGATTGTTTTTGTTTTTTATTCTCCTCCTCCCTCCCCGCCCTCACCCGCCCCACTCCCTCCTAACCTAGAGATTGTTACAGAAGCTGAAATTGCGTTCTAAGAGGTGAAGTGATTTTTTTTCTGAAACTCACACAACTAGGAAGTGGCTGAGTCAGGACTTGAACCCAGGTCTCCCTGGATCAGAACAGGAGCTCTTAACTACAGTGGCTGAATAGCTTCTCCAAAGGCTCCCTGTGTTCTCACCGTGATCAAGTTGAGGGGCTTCCGGCTCCCTTCTACAGCCTCAGAAACCAGACTCGTTCTTCTGGGAACCCTGCCCACTCCCAGGACCAAGATTGGCCTGAGGCTGCACTAAAATTCACTTAGGGTCGAGCATCCTGTTTGCTGATAAATATTAAGGAGAATTCATGACTCTTGACAGCTTTTCTCTCTTCACTCCCCAAGTCAAGGGGAGGGGTGGCAGGGGTCTGTTTCCTGGAAGTCAGGCTCATCTGGCCTGTTGGCATGGGGGTGGGACAGTGTGCACAGTGTGGGGGCAGGGGAGGGCTAAGCAGGCCTGGGTTTGAGGGCTGCTCCGGAGACCGTCACTCCAGGTGCATTCTGGAAGCATTAGACCCCAGGATGGAGCGACCAGCATGTCATCCATGTGGAATCTTGGTGGCTTTGAGGACATTCTGGAAAATGCCACTGACCAGTGTGAACAAAAGGGATGTGTTATGGGGCTGGAGGTGTGATTAGGTAGGAGGGAAACTGTTGGACCGACTCCTGCCCCCTGCTCAACACTGACCCCTCTGAGTGGTTGGAGGCAGTGCCCCAGTGCCCAGAAATCCCACCATTAGTGATTGTTTTTTATGAGAAAGAGGCGTGGAGAAGTATTGGGGCAATGTGTCAGGGAGGAATCACCACATCCCTACGGCAGTCCCAGCCAAGCCCCCAATCCCAGCGGAGACTGTGCCCTGCTCAGAGCTCCCAAGCCTTCCCCCACCACCTCACTCAAGTGCCCCTGAAATCCCTGCCAGACGGCTCAGCCTGGTCTGCGGTAAGGCAGGGAGGCTGGAACCATTTCTGGGCATTGTGGTCATTCCCACTGTGTTCCTCCACCTCCTCCCTCCAGCGTTGCTCAGACCTCTGTCTTGGGAGAAAGGTTGAGATAAGAATGTCCCATGGAGTGCCGTGGGCAACAGTGGCCCTTCATGGGAACAATCTGTTGGAGCAGGGGGTCAGTTCTCTGCTGGGAATCTACCCCTTTCTGGAGGAGAAACCCATTCCACCTTAATAACTTTATTGTAATGTGAGAAACACAAAACAAAGTTTACTTTTTTGACTCTAAGCTGACATGATATTAGAAAATCTCTCGCTCTCTTTTTTTTTTTTTTTTTTTTTTTTGGCTACTTGAGTTGTGGTCCTAAAACATAAAATCTGATGGACAAACAGAGGGTTGCTGGGGGGACAAGCGTGGGCACAATTTCCCCACCAAGACACCCTGATCTTCAGGCGGGTCTCAGGAGCTTCTAAAAATCCGCATGGCTCTCCTGAGAGTGGACAGAGGAGAGGAGAGGGTCAGAAATGAACGCTCTTCTATTTCTTGTCATTACCAAGCCAATTACTTTTGCCAAATTTTTCTGTGATCTGCCCTGATTAAGATGAATTGTGAAATTTACATCAAGCAATTATCAAAGCGGGCTGGGTCCCATCAGAACGACCCACATCTTTCTGTGGGTGTGAATGTCATTAGGTCTTGCGCTGACCCCTGAGCCCCCATCACTGCCGCCTGATGGGGCAAAGAAACAAAAAACATTTCTTACTCTTCTGTGTTTTAACAAAAGTTTATAAAACAAAATAAATGGCGCATATGTTTTCTAAGTCCTTGGATAAGTATCTTTTCTTTCAGGTATCAGAAATAAGACTGAATCTTCTGGTTCTACTTGGGGGTTAAAAAATTTTTTTTAAAGGAAGAATGAGAATAGTTTTATAGTTCTTTGTGATGTGCAGAATGTTTTTGTGTCCATTATAATTTTTCAGTCTTCACATCAAGAGGTAAGCAGTTAGACATGATTACTCCCACTTTCCAGATGAGGAGACTGAGGCTTGGGGGAAGTGACTTCTCTTGGAAGGCAGAGGTGGACATCTAACCCTGGTCTCTTGATTCCAAGTACTTAGTATATCGAGAGAGTGAAAGTTGATCCCCCTTCTTGAAGAGGGGAGTGATGAGGGGAGAGTGCAATGGCAAGATCTGGAAGAATGGCAAGAGGGTCCAAGGGTCTGTCATCCTCCACCAAGGTTCAAGACAGAACCTTTTGCTGGGTCACCTCAATCTGCCAGCAATGGAAGATGAGTAGCTGTGGGGACATTTCATAAAAGCAAGTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTGTTTTTTTTTCTAGAACAAGGCTGTGCACAGTGGCTCACCTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCAGAGCAATATAAGGAGACCCCATCTCTACAAAAAATTTAAAAATTAGCCAGGTATAGTGGTGTGTGCCTATAGTACCAGCTACTCTGAAGGCTGAGGTGGGAAGATTGCTTCAGCCCAGGAGTTCGAGGATGCAGTGAGCTATGAATGCAACACTGCACTACAGCCTGGATGAAAGAACAAGACTCTGTCTCAAAACATAAATAATAAGTAAAAAGAATAAAAGCAAGAGATGCACTTGAGAATCTCCAGCCAGATCTGTAGCCACTGGGCTTCTCTCCAAGGCTAAACTATTACAGGAGGGTGGCCTTGTGTCTCGGTCACCACAGACCACAGCGTTCCATTCACTCGGGGTTGTGCTGGAGCTGGCTTGTGAGAACTGACTGTTAGCTTCTCTTCCCAACTCCATGTTTGCCAGTGCCACACTGATAGCTTGAAATTGGTTATTGCCGGAGTGTTTACACCACAAGGACTAGCAAACTCTACAAATCCGGGCTTTTGTTCCTGGAGAGCCCGTTGTTAACATTCACCAGCACACCACAGCATTCGGCAATGGCTGGACCATGGGATGCCTACATATGGGGACATCCTCCTTGGGGATGAGGGTAGAGCAGGGCGATCCTTTCACCTCTTCCTTAAGGGAGGGGACAAAAGTTCTGGTCTGGGAAGCACACGTTTTGCTGATCAGCGTAACCTTGGGCAGGTCACTCCACCACTCCGAGCCTCATCTGTAAAGTGGGAATGATATCTCCCTCCAGGGCAGATGTCAGGATTCAATGGAATGAGATCACAGTAACTGTGAGAGCTCCCGTTACATGAGGAGTACAAGTGAACTCTTCATGCGCCCCTTTTTAGCGAGAAGTTAACCATTAAACTCTCCAGGCTTCAGAGCACCCATTCGCTGTCTACCTGATCCCTAGGGCCGCTCCCGCCTTCCCCTGTGCCTTCCCTCCACTAGTCAGCACCAGGAAATGTTTTCGATAACGTTGCAACGGAGGCCTTGTTCATGCTGCCGCCATCGGGGACAAGCGCGGGGGGGGGGGGGTGGAGGCCAGAGGAGACTATTTCAGTCCTAAATTGTGCTTAATAAACCCATATCAAAACCATAAACCCTTGGCTGCCATAAATTCCTCTACCCTTGGATCCTCCACCTCATCAGCCCTTTGCCCTGGTTAATCTCAAATCTCAGCGCAGGCAGCCGGAGCTTTAGGTTTGGTTTCTACTTCAGTTGCTAAACAGCATCAGCTCAGGTGGCAGACAGTAAAATTCCCATTTTAGAGATGATGAAACTGAGGTTCAGAAAGGTGAAGAAACTTGTCCAAGGTCACACAGCTAGAGACCCCAGCCAAGACCTGAGCCCATGC
|
AGGCTGGAAGCTGGGAGGTCAGGTGGGGTGGATGATATAATGCGGGTGAGAGTAATGAGGCTTGGGGCTGGAGAGGACAAGATGGGTAAACCCTCACATCAGAGTGACATCCAGGAGGAATAAGCTCCCAGGGCCTGTCTCAAGCTCTTCCTTACTCCCAGGCACTGTCTTAAGGCATCTGACATGCATCATCTCATTTAATCCTCCCTTCCTCCCTATTAACCTAGAGATTGTTTTTGTTTTTTATTCTCCTCCTCCCTCCCCGCCCTCACCCGCCCCACTCCCTCCTAACCTAGAGATTGTTACAGAAGCTGAAATTGCGTTCTAAGAGGTGAAGTGATTTTTTTTCTGAAACTCACACAACTAGGAAGTGGCTGAGTCAGGACTTGAACCCAGGTCTCCCTGGATCAGAACAGGAGCTCTTAACTACAGTGGCTGAATAGCTTCTCCAAAGGCTCCCTGTGTTCTCACCGTGATCAAGTTGAGGGGCTTCCGGCTCCCTTCTACAGCCTCAGAAACCAGACTCGTTCTTCTGGGAACCCTGCCCACTCCCAGGACCAAGATTGGCCTGAGGCTGCACTAAAATTCACTTAGGGTCGAGCATCCTGTTTGCTGATAAATATTAAGGAGAATTCATGACTCTTGACAGCTTTTCTCTCTTCACTCCCCAAGTCAAGGGGAGGGGTGGCAGGGGTCTGTTTCCTGGAAGTCAGGCTCATCTGGCCTGTTGGCATGGGGGTGGGACAGTGTGCACAGTGTGGGGGCAGGGGAGGGCTAAGCAGGCCTGGGTTTGAGGGCTGCTCCGGAGACCGTCACTCCAGGTGCATTCTGGAAGCATTAGACCCCAGGATGGAGCGACCAGCATGTCATCCATGTGGAATCTTGGTGGCTTTGAGGACATTCTGGAAAATGCCACTGACCAGTGTGAACAAAAGGGATGTGTTATGGGGCTGGAGGTGTGATTAGGTAGGAGGGAAACTGTTGGACCGACTCCTGCCCCCTGCTCAACACTGACCCCTCTGAGTGGTTGGAGGCAGTGCCCCAGTGCCCAGAAATCCCACCATTAGTGATTGTTTTTTATGAGAAAGAGGCGTGGAGAAGTATTGGGGCAATGTGTCAGGGAGGAATCACCACATCCCTACGGCAGTCCCAGCCAAGCCCCCAATCCCAGCGGAGACTGTGCCCTGCTCAGAGCTCCCAAGCCTTCCCCCACCACCTCACTCAAGTGCCCCTGAAATCCCTGCCAGACGGCTCAGCCTGGTCTGCGGTAAGGCAGGGAGGCTGGAACCATTTCTGGGCATTGTGGTCATTCCCACTGTGTTCCTCCACCTCCTCCCTCCAGCGTTGCTCAGACCTCTGTCTTGGGAGAAAGGTTGAGATAAGAATGTCCCATGGAGTGCCGTGGGCAACAGTGGCCCTTCATGGGAACAATCTGTTGGAGCAGGGGGTCAGTTCTCTGCTGGGAATCTACCCCTTTCTGGAGGAGAAACCCATTCCACCTTAATAACTTTATTGTAATGTGAGAAACACAAAACAAAGTTTACTTTTTTGACTCTAAGCTGACATGATATTAGAAAATCTCTCGCTCTCTTTTTTTTTTTTTTTTTTTTTTTTGGCTACTTGAGTTGTGGTCCTAAAACATAAAATCTGATGGACAAACAGAGGGTTGCTGGGGGGACAAGCGTGGGCACAATTTCCCCACCAAGACACCCTGATCTTCAGGCGGGTCTCAGGAGCTTCTAAAAATCCGCATGGCTCTCCTGAGAGTGGACAGAGGAGAGGAGAGGGTCAGAAATGAACGCTCTTCTATTTCTTGTCATTACCAAGCCAATTACTTTTGCCAAATTTTTCTGTGATCTGCCCTGATTAAGATGAATTGTGAAATTTACATCAAGCAATTATCAAAGCGGGCTGGGTCCCATCAGAACGACCCACATCTTTCTGTGGGTGTGAATGTCATTAGGTCTTGCGCTGACCCCTGAGCCCCCATCACTGCCGCCTGATGGGGCAAAGAAACAAAAAACATTTCTTACTCTTCTGTGTTTTAACAAAGTTTATAAAACAAAATAAATGGCGCATATGTTTTCTAAGTCCTTGGATAAGTATCTTTTCTTTCAGGTATCAGAAATAAGACTGAATCTTCTGGTTCTACTTGGGGGTTAAAAAATTTTTTTTAAAGGAAGAATGAGAATAGTTTTATAGTTCTTTGTGATGTGCAGAATGTTTTTGTGTCCATTATAATTTTTCAGTCTTCACATCAAGAGGTAAGCAGTTAGACATGATTACTCCCACTTTCCAGATGAGGAGACTGAGGCTTGGGGGAAGTGACTTCTCTTGGAAGGCAGAGGTGGACATCTAACCCTGGTCTCTTGATTCCAAGTACTTAGTATATCGAGAGAGTGAAAGTTGATCCCCCTTCTTGAAGAGGGGAGTGATGAGGGGAGAGTGCAATGGCAAGATCTGGAAGAATGGCAAGAGGGTCCAAGGGTCTGTCATCCTCCACCAAGGTTCAAGACAGAACCTTTTGCTGGGTCACCTCAATCTGCCAGCAATGGAAGATGAGTAGCTGTGGGGACATTTCATAAAAGCAAGTGGTTTTTTTGTTTTGTTTTGTTTTGTTTTTTGTTTTTTTTTCTAGAACAAGGCTGTGCACAGTGGCTCACCTCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCAGAGCAATATAAGGAGACCCCATCTCTACAAAAAATTTAAAAATTAGCCAGGTATAGTGGTGTGTGCCTATAGTACCAGCTACTCTGAAGGCTGAGGTGGGAAGATTGCTTCAGCCCAGGAGTTCGAGGATGCAGTGAGCTATGAATGCAACACTGCACTACAGCCTGGATGAAAGAACAAGACTCTGTCTCAAAACATAAATAATAAGTAAAAAGAATAAAAGCAAGAGATGCACTTGAGAATCTCCAGCCAGATCTGTAGCCACTGGGCTTCTCTCCAAGGCTAAACTATTACAGGAGGGTGGCCTTGTGTCTCGGTCACCACAGACCACAGCGTTCCATTCACTCGGGGTTGTGCTGGAGCTGGCTTGTGAGAACTGACTGTTAGCTTCTCTTCCCAACTCCATGTTTGCCAGTGCCACACTGATAGCTTGAAATTGGTTATTGCCGGAGTGTTTACACCACAAGGACTAGCAAACTCTACAAATCCGGGCTTTTGTTCCTGGAGAGCCCGTTGTTAACATTCACCAGCACACCACAGCATTCGGCAATGGCTGGACCATGGGATGCCTACATATGGGGACATCCTCCTTGGGGATGAGGGTAGAGCAGGGCGATCCTTTCACCTCTTCCTTAAGGGAGGGGACAAAAGTTCTGGTCTGGGAAGCACACGTTTTGCTGATCAGCGTAACCTTGGGCAGGTCACTCCACCACTCCGAGCCTCATCTGTAAAGTGGGAATGATATCTCCCTCCAGGGCAGATGTCAGGATTCAATGGAATGAGATCACAGTAACTGTGAGAGCTCCCGTTACATGAGGAGTACAAGTGAACTCTTCATGCGCCCCTTTTTAGCGAGAAGTTAACCATTAAACTCTCCAGGCTTCAGAGCACCCATTCGCTGTCTACCTGATCCCTAGGGCCGCTCCCGCCTTCCCCTGTGCCTTCCCTCCACTAGTCAGCACCAGGAAATGTTTTCGATAACGTTGCAACGGAGGCCTTGTTCATGCTGCCGCCATCGGGGACAAGCGCGGGGGGGGGGGGGTGGAGGCCAGAGGAGACTATTTCAGTCCTAAATTGTGCTTAATAAACCCATATCAAAACCATAAACCCTTGGCTGCCATAAATTCCTCTACCCTTGGATCCTCCACCTCATCAGCCCTTTGCCCTGGTTAATCTCAAATCTCAGCGCAGGCAGCCGGAGCTTTAGGTTTGGTTTCTACTTCAGTTGCTAAACAGCATCAGCTCAGGTGGCAGACAGTAAAATTCCCATTTTAGAGATGATGAAACTGAGGTTCAGAAAGGTGAAGAAACTTGTCCAAGGTCACACAGCTAGAGACCCCAGCCAAGACCTGAGCCCATGCN
|
benign
| 313,855 |
Regarding the variant found on chromosome 20 at position 44620354 in gene ADA (adenosine deaminase): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
|
CCCCAGACAAGGAAGCTGGCAACCAGCCCCAGAGCAGCGATGGGACCACCTCGTCTTGAATCTGACCTTGTCCAAGAAGGCTGGACGAGAGACCTTCTGTCCCCTCCCAGAGGGGGAACCCTGGCACTGGCCCAGCAGCCTCTTCTCTGAGCTCCATGTCCCAGATAAACCAGGCCAGACTGAGAAGGCTCCCCAGAGGCCTCTGTGGCCTCCACTCCGGGAAAGCCCTCTGCCCACACCCACAGGCTTCACATTCCCACCACCTTCGCACCGTGCCCAGGTACACTTTCAAGACACTGTAACCACAAGATGTTATTTATTGAGCTGGCGCCGGGACTTGGGCGGGGCCTGCCCTACAGTGAGCAGCCCACACAGGAACGCTCCTCTCGCGAGCGGCCCGGGCAGGGACCCTGTCCCAACACCAACACCTCCTCTCCAGCCCAATCTTCTGGGTCCAGACCTGCTTGTCCCTTTTTTAGAAAACACTTTTAAACTTTTTAAAAATTTTAAACCTTTTTTCAGCAGATATGGAGAGAGCTGACAATCAATTCACATTTTTTAAGCCATTTTAGCTAAACTGTCATTGTGCATCTCTGAGGTTCCCTCATGGAGCTCCACAGATCCATTTTTAGGGAAGGGATTTTGGCTCAAAACGATCTGACCACCTCTGCCCTGTCCACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAG
|
CCCCAGACAAGGAAGCTGGCAACCAGCCCCAGAGCAGCGATGGGACCACCTCGTCTTGAATCTGACCTTGTCCAAGAAGGCTGGACGAGAGACCTTCTGTCCCCTCCCAGAGGGGGAACCCTGGCACTGGCCCAGCAGCCTCTTCTCTGAGCTCCATGTCCCAGATAAACCAGGCCAGACTGAGAAGGCTCCCCAGAGGCCTCTGTGGCCTCCACTCCGGGAAAGCCCTCTGCCCACACCCACAGGCTTCACATTCCCACCACCTTCGCACCGTGCCCAGGTACACTTTCAAGACACTGTAACCACAAGATGTTATTTATTGAGCTGGCGCCGGGACTTGGGCGGGGCCTGCCCTACAGTGAGCAGCCCACACAGGAACGCTCCTCTCGCGAGCGGCCCGGGCAGGGACCCTGTCCCAACACCAACACCTCCTCTCCAGCCCAATCTTCTGGGTCCAGACCTGCTTGTCCCTTTTTTAGAAAACACTTTTAAACTTTTTAAAAATTTTAAACCTTTTTTCAGCAGATATGGAGAGAGCTGACAATCAATTCACATTTTTTAAGCCATTTTAGCTAAACTGTCATTGTGCATCTCTGAGGTTCCCTCATGGAGCTCCACAGATCCATTTTTAGGGAAGGGATTTTGGCTCAAAACGATCTGACCACCTCTGCCCTGTCCACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGNN
|
pathogenic
| 313,861 |
Variant chromosome 20, position 44620379, gene ADA (adenosine deaminase): benign or pathogenic? Disease(s)?
|
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency', 'Severe_combined_immunodeficiency_disease']
|
GCCCCAGAGCAGCGATGGGACCACCTCGTCTTGAATCTGACCTTGTCCAAGAAGGCTGGACGAGAGACCTTCTGTCCCCTCCCAGAGGGGGAACCCTGGCACTGGCCCAGCAGCCTCTTCTCTGAGCTCCATGTCCCAGATAAACCAGGCCAGACTGAGAAGGCTCCCCAGAGGCCTCTGTGGCCTCCACTCCGGGAAAGCCCTCTGCCCACACCCACAGGCTTCACATTCCCACCACCTTCGCACCGTGCCCAGGTACACTTTCAAGACACTGTAACCACAAGATGTTATTTATTGAGCTGGCGCCGGGACTTGGGCGGGGCCTGCCCTACAGTGAGCAGCCCACACAGGAACGCTCCTCTCGCGAGCGGCCCGGGCAGGGACCCTGTCCCAACACCAACACCTCCTCTCCAGCCCAATCTTCTGGGTCCAGACCTGCTTGTCCCTTTTTTAGAAAACACTTTTAAACTTTTTAAAAATTTTAAACCTTTTTTCAGCAGATATGGAGAGAGCTGACAATCAATTCACATTTTTTAAGCCATTTTAGCTAAACTGTCATTGTGCATCTCTGAGGTTCCCTCATGGAGCTCCACAGATCCATTTTTAGGGAAGGGATTTTGGCTCAAAACGATCTGACCACCTCTGCCCTGTCCACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATT
|
GCCCCAGAGCAGCGATGGGACCACCTCGTCTTGAATCTGACCTTGTCCAAGAAGGCTGGACGAGAGACCTTCTGTCCCCTCCCAGAGGGGGAACCCTGGCACTGGCCCAGCAGCCTCTTCTCTGAGCTCCATGTCCCAGATAAACCAGGCCAGACTGAGAAGGCTCCCCAGAGGCCTCTGTGGCCTCCACTCCGGGAAAGCCCTCTGCCCACACCCACAGGCTTCACATTCCCACCACCTTCGCACCGTGCCCAGGTACACTTTCAAGACACTGTAACCACAAGATGTTATTTATTGAGCTGGCGCCGGGACTTGGGCGGGGCCTGCCCTACAGTGAGCAGCCCACACAGGAACGCTCCTCTCGCGAGCGGCCCGGGCAGGGACCCTGTCCCAACACCAACACCTCCTCTCCAGCCCAATCTTCTGGGTCCAGACCTGCTTGTCCCTTTTTTAGAAAACACTTTTAAACTTTTTAAAAATTTTAAACCTTTTTTCAGCAGATATGGAGAGAGCTGACAATCAATTCACATTTTTTAAGCCATTTTAGCTAAACTGTCATTGTGCATCTCTGAGGTTCCCTCATGGAGCTCCACAGATCCATTTTTAGGGAAGGGATTTTGGCTCAAAACGATCTGACCACCTCTGCCCTGTCCACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTNN
|
pathogenic
| 313,862 |
Clinical classification of chromosome 20, position 44620397, gene ADA (adenosine deaminase): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
|
GACCACCTCGTCTTGAATCTGACCTTGTCCAAGAAGGCTGGACGAGAGACCTTCTGTCCCCTCCCAGAGGGGGAACCCTGGCACTGGCCCAGCAGCCTCTTCTCTGAGCTCCATGTCCCAGATAAACCAGGCCAGACTGAGAAGGCTCCCCAGAGGCCTCTGTGGCCTCCACTCCGGGAAAGCCCTCTGCCCACACCCACAGGCTTCACATTCCCACCACCTTCGCACCGTGCCCAGGTACACTTTCAAGACACTGTAACCACAAGATGTTATTTATTGAGCTGGCGCCGGGACTTGGGCGGGGCCTGCCCTACAGTGAGCAGCCCACACAGGAACGCTCCTCTCGCGAGCGGCCCGGGCAGGGACCCTGTCCCAACACCAACACCTCCTCTCCAGCCCAATCTTCTGGGTCCAGACCTGCTTGTCCCTTTTTTAGAAAACACTTTTAAACTTTTTAAAAATTTTAAACCTTTTTTCAGCAGATATGGAGAGAGCTGACAATCAATTCACATTTTTTAAGCCATTTTAGCTAAACTGTCATTGTGCATCTCTGAGGTTCCCTCATGGAGCTCCACAGATCCATTTTTAGGGAAGGGATTTTGGCTCAAAACGATCTGACCACCTCTGCCCTGTCCACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAG
|
GACCACCTCGTCTTGAATCTGACCTTGTCCAAGAAGGCTGGACGAGAGACCTTCTGTCCCCTCCCAGAGGGGGAACCCTGGCACTGGCCCAGCAGCCTCTTCTCTGAGCTCCATGTCCCAGATAAACCAGGCCAGACTGAGAAGGCTCCCCAGAGGCCTCTGTGGCCTCCACTCCGGGAAAGCCCTCTGCCCACACCCACAGGCTTCACATTCCCACCACCTTCGCACCGTGCCCAGGTACACTTTCAAGACACTGTAACCACAAGATGTTATTTATTGAGCTGGCGCCGGGACTTGGGCGGGGCCTGCCCTACAGTGAGCAGCCCACACAGGAACGCTCCTCTCGCGAGCGGCCCGGGCAGGGACCCTGTCCCAACACCAACACCTCCTCTCCAGCCCAATCTTCTGGGTCCAGACCTGCTTGTCCCTTTTTTAGAAAACACTTTTAAACTTTTTAAAAATTTTAAACCTTTTTTCAGCAGATATGGAGAGAGCTGACAATCAATTCACATTTTTTAAGCCATTTTAGCTAAACTGTCATTGTGCATCTCTGAGGTTCCCTCATGGAGCTCCACAGATCCATTTTTAGGGAAGGGATTTTGGCTCAAAACGATCTGACCACCTCTGCCCTGTCCACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGNNNNN
|
pathogenic
| 313,864 |
Considering the variant on chromosome 20, location 44621022, involving gene ADA (adenosine deaminase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
|
TGCCCTGTCCACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTT
|
TGCCCTGTCCACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTN
|
pathogenic
| 313,870 |
Clinically, how would you classify the variant at chromosome 20, position 44621032, gene ADA (adenosine deaminase): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
|
ACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCC
|
ACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCNNNNN
|
pathogenic
| 313,871 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 44621094, gene ADA (adenosine deaminase). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
|
AGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTG
|
AGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGATTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 313,875 |
Is the genetic mutation found on chromosome 20 at position 44621138, within the gene ADA (adenosine deaminase), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
|
TTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTT
|
TTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATTCACAGCCACCCTTAGGCTCAGGCCCTGCTGCTGAGCAGGCTGACCCAGCTCCCTCCATGCTCATCCTGCCCACATCGGCCCGCCCAAGACCACCAAATTACATGCCACCTGCTGCATGCCACCAGCCATGGGCTTCTTTATTGAGCACCAGATTTTCAGTACAAGTTGCCACAGAAGGAGGGTTTCAGATTCAACCATGCCCATGTGCAAGGGCGCTGGTCCCTGGCCAGGGCACATAATCAGAGAAGTGACGCGGCCATGCCGAGGTATACGTGTGTGCAGAAATGGACACATAGGGTTCAGGAGCATCAGTAACTGACTATTGAGATCATGGTCTTCTTGGAAGGAATAAATGTAAAAATGTTGCTCAGCCCCACAGAGTTGGGGTGACTCCACAGGGTGAAGGCTTGGAGGAGTGGCGTCTTCAGAGGTTCTGCCCTGCTCGTTGGTTCAGAGAAGCAAAAAGATCAGGCAACTTGTAGTACCCAGGATGTTGTAAAAATCATAGAACACCAGAACCAGAAAGGAACTCCTTCCTATGATGGCAAGAAGATGCCTTGCCAAGACCACATAGGAAGAAAGGAGCAGAACAGGCCTGGGCCCCTCTCCCTGCCCTTGGCTTTGGGCAGCCATGGAGGTGTCCCCAACTGCCCAGACCTTTGGGACTGGGCTTCAGAAAGTCTCCCCTTAGAACAGCCTCTCAAGAACTTTTATAGAAAACAAACCGATCTAATGAGACGCTGCTCCCAGCCAGGGCCCAGAAACCAGGGAGTCATCACACATTCATGGCGCTGCCCAAGAATGGAAGGGCATCTTGCTAGAAGTCCCACAGAAAGCCACACTGGGGCCAGGACAGGGCAACTGCCCAGAAGCCCAGACAGGAACCTACCTGCAGAGGCTGAAGGTGGCATCCCATAGGCTTTATAGAGCAGGTCGAGAAGCTCCCTCTTTTCATCTTCTGGGAGGAAACTAGATTTGGCCGCATTGATGTTCTGGAAAGGCCAGAATGGCAGACAACATGGAACCAGAGAACAAAGAAGGCAGCTCTTAGCAATGTAGTGATAGTCCATCCTCTTCACTCAACATGGGCAGATACGCTTAGAGGGGGAAGGATTTGTCCACTGTCACACGGCAGCAAGTGCCAGAGTAGAGACCATGAGGTCGTGTTCTTAATTTGTCATTACATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCT
|
pathogenic
| 313,879 |
Evaluate the clinical significance of the mutation at chromosome 20, position 44622642 in gene ADA (adenosine deaminase): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
|
ATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGC
|
ATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCN
|
pathogenic
| 313,885 |
Variant in ADA (adenosine deaminase), chromosome 20, position 44622647—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
|
AAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGA
|
AAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGACCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGC
|
pathogenic
| 313,886 |
The mutation impacting ADA (adenosine deaminase) on chromosome 20 at position 44622903: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
|
ACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGC
|
ACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCN
|
pathogenic
| 313,895 |
Variant in ADA (adenosine deaminase), chromosome 20, position 44622918—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
|
CTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGC
|
CTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTG
|
pathogenic
| 313,898 |
Variant in ADA (adenosine deaminase), chromosome 20, position 44623036—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
|
TCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGC
|
TCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGTGACTTGTTCAAGTCTATGTAACCAGAAAGTCCAGAATCCAGCCCATCCTGAAGACCAGAGCTGGGCAAAGGCAGCAGAGGGGCCAGACATGGGAACCAGGCAGAATGGCAGCCGGTGGGGGCGTGGGGGTGGGAGCCAAGAAAGCAACATCCCCCTCCGGCTGCCACCCTCTCCAGCCTTCCCCTCTGCACCCTACCCTGCTTGTTCCTCAGTCCCACTGGGAGCTGGCTACTCCAACATACCATGGAAGCTGTTCTTGGCACGATCCCTGACCACCATCTTGTTGTATCTAATGGATCTTTCCTAGCTCTGACCATAATCGACTTGCATAGCAGAATTTCACACTGTTGACTGTTTCTTGAAACCTTTTCCCTGGATTTCTGTGACACCACACTTTTGACTTTCCTCCTACTTGTCTCTTTTGCTGGTCCCTTAAATACCATTGTCCTTCTGGGTTCTATCCTAGGCCCTTCTTGCTCCACCACCTCCTGGGGCCACTGCTTCTCCTTCAGCCACCATATCTGTGCAGATGACTCCTGGATCTTTTTCCAGCCCATGGTATACCCACATGCCTCCAAGAACCTCCACAGGTGCCACGTGTCCCTAAGGCAAGCCCCAAGACCCCCTTGTCATCAGAACATCAGAGCCGAAGCCCCTCCCCTTCTCATATGCCTGGCAGATGGATAAGTGCTGGCCTGACCATGGTCACCCTGAGTTCTTGCTGTCCTTGTCTTGGGGAAGGCGGCTTTTTCCTAAGGCCTGATACTGCTCCTGTGGCTTGGCGACAGGACGGAAGGAGGGCCTTGACCCTGGTTAGACTCCAGGATGGGAGCCAGGCAGGGTGGAACAGACCCTCCGGTGGAAAGCTTCAAGATGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTG
|
pathogenic
| 313,900 |
Is the genetic mutation found on chromosome 20 at position 44624230, within the gene ADA (adenosine deaminase), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
|
TGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGA
|
TGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGG
|
pathogenic
| 313,911 |
Is the genetic variant on chromosome 20, position 44624275, gene ADA (adenosine deaminase), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
|
GAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAG
|
GAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGA
|
pathogenic
| 313,914 |
Clinical significance of chromosome 20, position 44624275, gene ADA (adenosine deaminase): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['ADA-related_disorder', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency', 'Severe_combined_immunodeficiency_disease']
|
GAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAG
|
GAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTTCCTGGAACAAAATTGAACAGGCCCAGGGGAACAGAGCTCACCGAATGACTGCATGCTCCGTGTCCGGCTTCCAGGCACCAGTGAGGTAGCTGGACCAGGGGCAGATCTGGAAGAGCAGGTGTGTGGCTGGCAGGGATGGCCCCAGGCCATGCTGATTCCTCCCCCCATGTCTGGGCCTGGGGCCACCCCTCGAGTTCCTGGGACCCGCCCTGCTTTCTGCCTCTCTATACAGGAAGTTGGGACAGCCGGGGATGGTTCCTCCCCACTCCCTGGCCCGCTTACCTCGAAGTGCATGTTTTCCTGCCGCAGCCTGTTATAAAGGGCCTGGTCTTCCAGGGTGTGGTAGCCGTGTCCCAGCCGCTCTGTCTTGAGTATGTCCACAGCCTGTAGAGAAGCAGAATAGAGCCAAGTATGGGAGGAGGCAGTGAGGAGGGACCCCATGGCCAGCCCAGGCCCTCACCTCTTTTACTACTTCGGCCGAGCCCACCTCCCCGGCGTGGACAGTACGGTGAATGCCGCTCTTCACAGCCTCCTGGAAGGGGGAGAGCCAGGTCATGGGTGCCCTAGCGGGAGGGCCCCGGCAGGCCCTGCCTTGACCATGCTGTGGAGATTGAACCATCCTAGTCATGCTGCCTGCTTCAACAGCATGGGGAAACCTGGTCTTTTACCCTCCAAGTCCTTATCTAAGTGGTAGCTGTCACTCATTAGCCAGTTACCATGTGTCAGGTAGTATATGAAGTGACTTGTATACATTATCTAATATTCACAACTATTATCCCACCCATTTTATGATGAAGGACTGAAGCTCAGGAGATTCAAGTAATGTGACCAAGGTCAGACAGGAAGTGTGGAACCAAGCTCTGAGCCCGGGCAGTGGGACTCCAGAGCCCTGACTTCTCCACCATGCTGCACCCTCCACAGGAGGCCCATTCATCATCACGCTGGAAGCGACTTTTGAGATGTCGGCTCCAACTCAGTCATCCCAATAGAAGAAACAGAGGCCCAGAGAAGACACAGTGTTGCCCAGGTTCACACAGCAAATCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGN
|
pathogenic
| 313,915 |
Classify the chromosome 20 variant at position 44625636 affecting gene ADA (adenosine deaminase) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
|
TCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGG
|
TCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGN
|
pathogenic
| 313,928 |
A genetic alteration at chromosome 20, position 44625642, in gene ADA (adenosine deaminase)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
|
CCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAG
|
CCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCT
|
pathogenic
| 313,929 |
The chromosome 20, position 44625650 genetic variant in gene ADA (adenosine deaminase): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency', 'Severe_combined_immunodeficiency_disease']
|
AGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAA
|
AGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCA
|
pathogenic
| 313,931 |
Variant in gene ADA (adenosine deaminase), located at chromosome 20 position 44625679: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
|
TGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGC
|
TGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCN
|
pathogenic
| 313,937 |
Does the chromosome 20 mutation at position 44625679 within gene ADA (adenosine deaminase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency', 'Severe_combined_immunodeficiency_disease']
|
TGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGC
|
TGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGTTGCCCTGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCTGCCTCGCCTCCCAAAGTGCTGGGATCACAGGCATGAACCACCACGCCTGGCCCAGGGGGATTCCAGTTCCAAGCCTTAAGACCCAACAAAGACACACTTCAGAACTCAGGAGACACCATGGTCCCTGGTTCTTGTGATTTCTCCCAACTATGGGTGGGAGACAAGCTCACCCAGGGCCAGCCTCTCCATTCCTTCTCACAGGACCCACCTGGTAGGCCTGGACATGTCCAGGCAAGAGGCTGCTTCCTGGGATGGTCTCATCTCCAGCCAGGTCAATGGCTACCACGGTCTGCTGCTGGTACTTCTTACACAGCTCCACCACCTTGGGGGACCAGTCTGTGGGCGAGATGCCCACCCAGGCTCTGTCACCAGCACCATGGAGAGACCTCCCAGCCTACCTGCCTGCTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCNN
|
pathogenic
| 313,938 |
Evaluate this variant at chromosome 20, position 44626447, gene ADA (adenosine deaminase): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency']
|
CTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCAGGGAAGAGAAATGAGAGAAAAGGACACAGCTGGACAAGTCCAGAGGGATGCCTGGATGTGGGAGACACGTGGGATACAGTCATGGACTTGGATCCTTGTGCCCACACTTATCTGCTGTGTGACCCCTGGTTAGTCACCCTCTGACACCTAGGTCAAGGAGTTATTGCGGGGACAAATGAGTCAAACTTCATAAACCCCACCCGGGTCAGTGCTTGGAGCAGAGCGGACAAATGCTCAAAACATTTTCGTTGTTATTACTGCATGTTTGTTCCAGAAGCAAGGCACAAATTGGCCTGCCAGGGCCACTGTGTTGATCACGTAACGGTGGACTGTGCTTAGCTGGAAGTTCCCACCATGAAGAGTGAAAATGAAGTGGTTACTAGAATGTGTGAGGGAAGGCACACAAGTGCTGGGAGAGCCCAGCGTGGGAAGAAAGTGCCCTGCCCAGGGGAGATCAGGCCACTCTCAGGAGAAGGGGTCACCAGAAGTTCTTGCATCTTCAGGATGAGGATGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCAAACATAGTAAAACCCCATCTCTACTAAAAATACAAAACCATTAGTTGGGTGTGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTAAAGCAGGAGAATCCCTTAAACTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTT
|
CTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAACACGTCATCTAAAATAGAACTCACACTAGTATTGGGAAGTATCTCGCTAATGTATTAGGTACTCTTAACCAATAAAGTTATTCTGAAGTGTTTAAGAAAGAATGAATGAACACAGGCTTTGGAACTAGATGTCCCCGGATACAAATCCAGGGTTTGTGCCTTGCAAGAGGCTGCACCTCACTCCACCTCAGTTTCCTCATCTGTCAAATGGGACTAAGCAATGGTAGTTCTGCTTTGCAGGCTGCTGCGAGGATTAGAGGAAATGCGTGCAGGTAGCTCTTTGGTTCTTACTAATCCTGAGGGTAGAGGAATGAAGTAAGTGTGATCATCTCCTTGTGACAGTGCACAACTGAGGTGTCTTGGTGCATAACCAGAGCAGCAGTGTGACCTGCCCAATATCACACAGTGAGGCTGTGCACCATGAGGCACAAACTCTAGAGATCTGATCTGCGTCAGTGACAAGGGAGACCCCTCAGAAATCTTGGAAATCAGACCTATTCAGGCCCAGACAGGATGGGGCCTGGTCCACTGGGTCTCGAGGGAGGACTATGGGCTGATCAGAATCTAGCCTAGATTTTTTTTTCAATAGTTACGTTCCTATTTGGTGTTGAGCTTCCTGCAGGGTGGCTATAAAGGCATGGTGTCCCTGGGGAGAACATCTCCAGAAGTTCTGAGCCTGCCTAGGAGGTCTCCAGTTGTTTCATGAAGCCCCAAGTTCATGCCAGTGGGCTCAAGGGGACACCATGGGGCTGTGGGGCACAGGGGAGATCAGGTACAGCCCCACTGCTAGGCCAGGAGGTCAGGGCCAGGGTGAGACGGGCGGCCCTGGGCAGGGCGGTGATCCTACTCACTGGGCTGGTGGCGCATGCAGCACAGGATGGACCGGGCCTTGACCCCGAAGTCTCGCTCCCCCTCCTGCAGGCCCTGGCCCACTAGGGCCACCACCTCGTCTGGGGTGAGGTCCCCTCTGTGTGAGGAGAGGAGTAGGGATGGGCCTGAGGCAAAAGGAAGGCCTAAAGGGCAGCTCTGGGACTGGGACAGAGGAGGAAGAGGAGGCTTTGGGGAGGACCCTCCTCCCCCACTGACCCACTGCCTCAGAGGAAAGACTGGCAGAGATGCCCCCAGGCCCTAGCATGTCCCTCTAGCTCTTAAAGCAGCTGGGTGCTCCTAGATCTTAGTGGGAGGTGTGGGGTGTCAACATGGCCCTCCCCACCCCCAGATGGACAGCATTGCTAAGCTTGGGCCTGCCATGATGTTCACATTCTATATGTATCAGAATCATGGCTCAGAAAATGGGGCAGGGTGGTTTTGTGATACCACTTAGAGATCCATGGGGGCCCAGGCAGGGGGCTAGAAATGGGCCAGACTCACTTCAGTTATGAAGTTAGAGCAGGACCTTTAGGGCCTTTAGAGATCTGATCAGCATCAGTGACAAGGGAGACCCCTCAGAAATCCTGGGTGGCTAAGCAGGTTAACATTCCTGGACAGCAGGCCTGTGGCCAGAGCAAGACACAGCCAAACACTTGTGCCCAAGGTAAGAACATAACGGCAAAGGGAGGATGGGAACCACGTCTCTTGTGACAGAGTTAAACCCATCTTTCTGAGGCCATGGACCAGACTGGGGGCAAGAACAAGGTCTTGCTTGGGTCAGGGATTCCCAGCAGTTCGCCCTTCCAGTCTCAGAGCTGAGCCTCCCAGCCACACCCTCAGCATGGCCCCTTCCAGGCCCATCACTCAGCCTGGTTCCAGGGGATTGGCTCCACTTTGGAGTTGGCCAGCAGGTGCGGACTGTACCGCACCTCCACATACACCACGCCCTCTTTGGCCTTCATCTCTACAAACTCATAGGCGATCCTTTTGATAGCCTCCCGGCAGCCCCTGGGAAGGGAAGAAAGGGGTTGGGAACAACCTTCCCCAAGTCCCTTGGGAGCTCCAGGAGCAAATGACATCCCCAACCCTTGGCAGATTAAACCCACTTCATCCCCCAGACCCAAGCTCTGGGCATCCACTGGATAAGATCCCAGACACTGGGCAAGTCCTATCAGCTCTACTTTGGAACTGCATACCAGTTCTCACCCCTCCATCCTGGCCTGAATCACGCCATCTCTAACTGGCCTCCCTGTCTCCATGCTTGCCCCTGTCATCCTGTTCTCCACCCAGCAGTTGGGGCAATCTTTTAAGAAGGTAAATCAAAGCATATCACTTCTCCCCTCGAAGCCCCAGTAGCTTCCTGCCACGGAGAGTGACATCGCAACTCCCAGGTCCTGCCCACAAGGCCTGCATCCTCCAGGCCTTGCCAGCCTCCCCAGCACCTTCCTTCTCCCTCATTCCCTGAGGCCACCGGAGAAGACACAGGCCTGCTCTTCCCCGATACTGTCCTACACTGCGTCTCTCCCGCTCCCCTGGTTTAGAGCCAGCTGAAGCTTCACCTCCTCAGAGAGGCCTTCCCTGACCACCTTATCTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCGTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCGCTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGGATACAGGCGTGAGCCACTGTACCTGGCCCAGACCGCCTTATCTTAAAACGGCCCCTCCACCATTCTCCTGGGCTTTCTTTTTCTCCCAGGTCCTTATCACTACTCAACATTGTGTGTCATATGGCTTATCAGCCAGTTTGCTGTATTCCCTACTAGAATGCAGTCTCCATGTGGCAAGGACCCCTCTGTCTTGGGATGGCTGCGACCTCTCAGCTGAGGACCATGCCTAGGACAGAGTAGCCCAATATTTGTTGGTGATGGAGTTAAGGCTGGCAGGGAAGAGAAATGAGAGAAAAGGACACAGCTGGACAAGTCCAGAGGGATGCCTGGATGTGGGAGACACGTGGGATACAGTCATGGACTTGGATCCTTGTGCCCACACTTATCTGCTGTGTGACCCCTGGTTAGTCACCCTCTGACACCTAGGTCAAGGAGTTATTGCGGGGACAAATGAGTCAAACTTCATAAACCCCACCCGGGTCAGTGCTTGGAGCAGAGCGGACAAATGCTCAAAACATTTTCGTTGTTATTACTGCATGTTTGTTCCAGAAGCAAGGCACAAATTGGCCTGCCAGGGCCACTGTGTTGATCACGTAACGGTGGACTGTGCTTAGCTGGAAGTTCCCACCATGAAGAGTGAAAATGAAGTGGTTACTAGAATGTGTGAGGGAAGGCACACAAGTGCTGGGAGAGCCCAGCGTGGGAAGAAAGTGCCCTGCCCAGGGGAGATCAGGCCACTCTCAGGAGAAGGGGTCACCAGAAGTTCTTGCATCTTCAGGATGAGGATGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCAAACATAGTAAAACCCCATCTCTACTAAAAATACAAAACCATTAGTTGGGTGTGATGGTGGGTGCCTGTGATCCCAGCTACTTGGGAGGCTAAAGCAGGAGAATCCCTTAAACTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTTNNNN
|
pathogenic
| 313,940 |
Variant chromosome 20, position 45419425, gene PIGT (phosphatidylinositol glycan anchor biosynthesis class T): benign or pathogenic? Disease(s)?
|
benign
|
GAATTGTGGCAGGCTAGAGAGTTTGTGTGACATTCTAACGAGGACAGCTCTGCCACTCAGCTTCTATGGATTGTTGCCATGTGGGAATAGAGGCCTAATGTGGTCAGAGTCAAATGTTTCTAAAAATTTTTTGTAGAAACAAGGTCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCAAGAGCCACCACACCTGGCCTCATTTTTCAAGAGATACCAGAAATCTGGAATTTAATGTGAAAATTGGCAAATTCAAATATCAGCAAGTAATTTAAAAATTTTTTGAGTGCTGTGCGGGTCAATGTTGTGCATACCAAATGAAGCATGTTTATGGTTTGAGTAGAGCTTTCCGGCTTCAAGTTTGCCATTTTTATTTGAGGCTTAAGGATTGGAGCAGTTGAAAAGCTCTGAACATAGAATTATCAAAAGCTCCTGGACAACACTAAGGAATAAGGAATAAGCAGTAACTCCCCAGCTTGCCAAGACTTTCTCTCTTGCCTCAACTCTGGCTCCCCTACCCTTTCCTGTCTACTCTGCTGTCACTGTCTTCCCTCAGCCCGTAATTGCCTGAAATGTGGAGCAAATGCTTAGAATTCTTTCTAGTGCTTATTAAGTTTTATGCTTTCTCTATTACTGAGAGCAAATCTCTTTTGATATTTCTCCAAGAAAAGAACATTAATTTAATTTGATGTTTTTATGAAATCCTAGAACAGTTGTTTTTCCCATGTTCAGTGAGCTTTTTTGGATATAAGACTTCTCACCATGATAGTAGAATCAGGACTTACCTTTATTCCCAGAGTATACACAGGGTAGTATGCATTGTTTTGCCCAGCCCAGCACATTCAAGGAAGATCAGTGAGCTCATTTCAGCTCTGATACATGAGGCGCTTTCCATGGTGTCAGGGGAAGTACATAGATGACCCAGACTGGTCCTTGTCCTCAAGTTGCTTACAGCCTAGTTAGGGAGAAAAGGTGGTCAGGACACGATGCTGCTGCCACCTAGCCATCTCCCAGGAGGGACCTAGTAAGATGCTTGGATGGTCAGAACCGTGACTGCACAGAGGAGACTGTGCTTAAGGAGGGCAGGAAAGGCTTCGTGGAGGGGAGGTAAGCACTGGAGCCGGATCATGAAGGTAGGCAGAAAGAAGTTAGCAAAGGCTTGCAAGGAAGGAAGAATCACCTGAGCAGAGACCCATGGGGATGCAGAGATGTCCAGAGGAGAGTGAGGAAGAAGGGGCTGAGTAGGATGAGACCCAGCAAGTGGGCTGGCTGGGGGCAGCAATGTTCCAGCTCCATCAACTGGCCCGTCTAATAGTTAAGAATACAGCCTCCTCCTATCATAGGTTTAGCAGCCAGCTGTGGACTTTGAAAGAGGGAGCAGAGGTAGCCCCAGGACAGTGAGTGGATTTGTGTCTCTATCCAGTGTGGATAAATCTTGGAAGGAGCTCAGTAATGTCCTCTCAGGGATCTTCTGCGCCTCTCTCAACTTCATCGACTCCACCAACACAGTCACTCCCACTGCCTCCTTCAAACCCCTGGGTCTGGCCAATGGTGAGATAACCCCTACAGCCCTTTCCTTCTTCCTCTTACCTCCTGCCCAAACCTTTGCCTCCTTTTCCCTCAGTTTCCTGCTTCCTCAGCCTGGGCTAGATCCTAAGTCCCCTGTGTGTGCAGGCCCCCAATACTGTGCCATCTCTGCATGCCTTTTCCCAAGGAGAGAAGGGAGTCCTACTCCCAGTTGGGACTGTCCAGACTGTGGTGCTAGAGGTGGTGTGGGGAGCAGGAGGGTCATTCCCATCTCTGGAATGTGGATCCCGAGGGGTCAGAGCCCAAGGCCCACCCCAGACAGACCTCTGTCTCCCTCAGACACTGACCACTACTTTCTGCGCTATGCTGTGCTGCCGCGGGAGGTGGTCTGCACCGAAAACCTCACCCCCTGGAAGAAGCTCTTGCCCTGTAGTTCCAAGGTGAGGCCGCAGAGCCTGGCAGCCGGGGGCGGGGGGTGTATAGAGAACCTGCGCCCCATGCCAAGTGCTCCATACAGGGCTTCTCTTATCTCTTTCCATCTCCTCCAGGCAGGCCTCTCTGTGCTGCTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAGGCAGTGCATATCCGCCCTGTTTGCAGAGTAAGTCATGGGGAGTAGAGGAAGCTGCCATCCAGGGGCTCAGAGAAGGTACATGTAAAGCATGTGGTCAGTGTCTGGCTCAGGCTGAGTGAGTACTGAGTGGTAGATGTGATGACGGTTATTCAGGGCATTGGCCAAGCACCAAGAAAACAGTGGTTGCCTAGCAAGCACTGAATAAATATTTGTCATGGAAAATAGTGGTTCAGAACAATAGCTATGCGGGTGCAATTGCTAGCTCAGTCACTTGCCAGCTGGCGTAACCTTGGGTGAATCATTTCATTCCCCTGAGCTTGGTTTCCCACCCTGCCACATGACATTGATAGTAGAATCCACTCCTAGGGTTGTTGTGATAGTTTATCAAACTGATGCACATACAGCTGTCAGCACGGGGTCTGGCACGAGGTCAAGTGCTCAGGAGTGGGTGGTAGCAAATCGATGGATGTGAAGATACATAGATGAGGGATTGAGTCTGAGTAGGAGTCTTTTTGGGGGCTGTGTGGTGAGAGTGATACCCCCTCACTGCTGCCATCTGGCCCTTGTGATAGAATGCACGCTGTACTAGCATCTCCTGGGAGCTGAGGCAGACCCTGTCAGTTGTATTTGATGCCTTCATCACGGGGCAGGGAAAGAAAGGTAAGTTACCTTGGCAACTCATCTGTACCCACCCATGCCAGCCCTGCCTTATCTATGTGGACTAGGCCTAGGCCTGGCCCCTGCTCAGCCCTGCGCTCTGTTTCTCAGACTGGTCCCTCTTCCGGATGTTCTCCCGAACCCTCACGGAGCCCTGCCCCCTGGCTTCAGAGAGCCGAGTCTATGTGGACATCACCACCTACAACCAGGTAACAAGGTCTCCAGCCACACACACAAACACACCGCTGGTCCCCAGGACCAGCCTACCCTCTCTGCTTGCTTCTTAGCCCTGCCTTTGTGTCCCCAGGACAACGAGACATTAGAGGTGCACCCACCCCCGACCACTACATATCAGGACGTCATCCTAGGCACTCGGAAGACCTATGCCATCTATGACTTGCTTGACACCGCCATGATCAACAACTCTCGAAACCTCAACATCCAGCTCAAGTGGAAGAGACCCCCAGAGAATGGTGAGTGGGTGGTTGGTTGGACTGCTGGGTTGCAACGGCTACAGAGAAAAGACTCACAATCCCACGTCTTTGCCGTTAGATGATTGGGTTGTATTTAGACCAGATTTCCAGAGTCATATGCTGCTGACTGTAGCTATTCCAAGCTCTACGATTTTGGGTAGGTTCCTAAACTCCCCAAGCTTCAGCATCCACATCTGAAAAATAGAGTATACTTAGCAAATTGGATGAGATGATGTGAAAAATGGAGTTAGTTCATGCATTTGCTTAATCAACCAAATACTTTTGAATTCATACTAAGTGCCAGGCATAGAGTGTTGAATAAGACAGAGGACACTGCACTCAAGAAATATAAGTCTACTAGCTAGGGCAGGTGTCAGTTAATTAATTACAGTTGTGTTCAGTTCCCTTACCAAGGGAAAGAGCAGAATATCCTGAGAGGACCTGGATTGGGTTCGAAGGGGGCACGGTGTTCGTCACGTAAGCACTTCAATACTAGCAACCTATTGTCATCATCGCTTGTTGGCTGGGGAAGACAGGGATGATTCCAGAACCCAGATTGCCCAGTTTCAGTGGCAGGGCTGTTCCCCATCTACTCACTGGCTTGGGACTCTGAACATGGCCTGGGCAGGTGGGGTGGGGAGTGATTCTTACCTTTGGCAGCTGTTAACTGTTGATATTTCTTTACACAGAGGCCCCCCCAGTGCCCTTCCTGCATGCCCAGCGGTACGTGAGTGGCTATGGGCTGCAGAAGGGGGAGCTGAGCACACTGCTGTACAACA
|
GAATTGTGGCAGGCTAGAGAGTTTGTGTGACATTCTAACGAGGACAGCTCTGCCACTCAGCTTCTATGGATTGTTGCCATGTGGGAATAGAGGCCTAATGTGGTCAGAGTCAAATGTTTCTAAAAATTTTTTGTAGAAACAAGGTCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCAAGAGCCACCACACCTGGCCTCATTTTTCAAGAGATACCAGAAATCTGGAATTTAATGTGAAAATTGGCAAATTCAAATATCAGCAAGTAATTTAAAAATTTTTTGAGTGCTGTGCGGGTCAATGTTGTGCATACCAAATGAAGCATGTTTATGGTTTGAGTAGAGCTTTCCGGCTTCAAGTTTGCCATTTTTATTTGAGGCTTAAGGATTGGAGCAGTTGAAAAGCTCTGAACATAGAATTATCAAAAGCTCCTGGACAACACTAAGGAATAAGGAATAAGCAGTAACTCCCCAGCTTGCCAAGACTTTCTCTCTTGCCTCAACTCTGGCTCCCCTACCCTTTCCTGTCTACTCTGCTGTCACTGTCTTCCCTCAGCCCGTAATTGCCTGAAATGTGGAGCAAATGCTTAGAATTCTTTCTAGTGCTTATTAAGTTTTATGCTTTCTCTATTACTGAGAGCAAATCTCTTTTGATATTTCTCCAAGAAAAGAACATTAATTTAATTTGATGTTTTTATGAAATCCTAGAACAGTTGTTTTTCCCATGTTCAGTGAGCTTTTTTGGATATAAGACTTCTCACCATGATAGTAGAATCAGGACTTACCTTTATTCCCAGAGTATACACAGGGTAGTATGCATTGTTTTGCCCAGCCCAGCACATTCAAGGAAGATCAGTGAGCTCATTTCAGCTCTGATACATGAGGCGCTTTCCATGGTGTCAGGGGAAGTACATAGATGACCCAGACTGGTCCTTGTCCTCAAGTTGCTTACAGCCTAGTTAGGGAGAAAAGGTGGTCAGGACACGATGCTGCTGCCACCTAGCCATCTCCCAGGAGGGACCTAGTAAGATGCTTGGATGGTCAGAACCGTGACTGCACAGAGGAGACTGTGCTTAAGGAGGGCAGGAAAGGCTTCGTGGAGGGGAGGTAAGCACTGGAGCCGGATCATGAAGGTAGGCAGAAAGAAGTTAGCAAAGGCTTGCAAGGAAGGAAGAATCACCTGAGCAGAGACCCATGGGGATGCAGAGATGTCCAGAGGAGAGTGAGGAAGAAGGGGCTGAGTAGGATGAGACCCAGCAAGTGGGCTGGCTGGGGGCAGCAATGTTCCAGCTCCATCAACTGGCCCGTCTAATAGTTAAGAATACAGCCTCCTCCTATCATAGGTTTAGCAGCCAGCTGTGGACTTTGAAAGAGGGAGCAGAGGTAGCCCCAGGACAGTGAGTGGATTTGTGTCTCTATCCAGTGTGGATAAATCTTGGAAGGAGCTCAGTAATGTCCTCTCAGGGATCTTCTGCGCCTCTCTCAACTTCATCGACTCCACCAACACAGTCACTCCCACTGCCTCCTTCAAACCCCTGGGTCTGGCCAATGGTGAGATAACCCCTACAGCCCTTTCCTTCTTCCTCTTACCTCCTGCCCAAACCTTTGCCTCCTTTTCCCTCAGTTTCCTGCTTCCTCAGCCTGGGCTAGATCCTAAGTCCCCTGTGTGTGCAGGCCCCCAATACTGTGCCATCTCTGCATGCCTTTTCCCAAGGAGAGAAGGGAGTCCTACTCCCAGTTGGGACTGTCCAGACTGTGGTGCTAGAGGTGGTGTGGGGAGCAGGAGGGTCATTCCCATCTCTGGAATGTGGATCCCGAGGGGTCAGAGCCCAAGGCCCACCCCAGACAGACCTCTGTCTCCCTCAGACACTGACCACTACTTTCTGCGCTATGCTGTGCTGCCGCGGGAGGTGGTCTGCACCGAAAACCTCACCCCCTGGAAGAAGCTCTTGCCCTGTAGTTCCAAGGTGAGGCCGCAGAGCCTGGCAGCCGGGGGCGGGGGGGTGTATAGAGAACCTGCGCCCCATGCCAAGTGCTCCATACAGGGCTTCTCTTATCTCTTTCCATCTCCTCCAGGCAGGCCTCTCTGTGCTGCTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAGGCAGTGCATATCCGCCCTGTTTGCAGAGTAAGTCATGGGGAGTAGAGGAAGCTGCCATCCAGGGGCTCAGAGAAGGTACATGTAAAGCATGTGGTCAGTGTCTGGCTCAGGCTGAGTGAGTACTGAGTGGTAGATGTGATGACGGTTATTCAGGGCATTGGCCAAGCACCAAGAAAACAGTGGTTGCCTAGCAAGCACTGAATAAATATTTGTCATGGAAAATAGTGGTTCAGAACAATAGCTATGCGGGTGCAATTGCTAGCTCAGTCACTTGCCAGCTGGCGTAACCTTGGGTGAATCATTTCATTCCCCTGAGCTTGGTTTCCCACCCTGCCACATGACATTGATAGTAGAATCCACTCCTAGGGTTGTTGTGATAGTTTATCAAACTGATGCACATACAGCTGTCAGCACGGGGTCTGGCACGAGGTCAAGTGCTCAGGAGTGGGTGGTAGCAAATCGATGGATGTGAAGATACATAGATGAGGGATTGAGTCTGAGTAGGAGTCTTTTTGGGGGCTGTGTGGTGAGAGTGATACCCCCTCACTGCTGCCATCTGGCCCTTGTGATAGAATGCACGCTGTACTAGCATCTCCTGGGAGCTGAGGCAGACCCTGTCAGTTGTATTTGATGCCTTCATCACGGGGCAGGGAAAGAAAGGTAAGTTACCTTGGCAACTCATCTGTACCCACCCATGCCAGCCCTGCCTTATCTATGTGGACTAGGCCTAGGCCTGGCCCCTGCTCAGCCCTGCGCTCTGTTTCTCAGACTGGTCCCTCTTCCGGATGTTCTCCCGAACCCTCACGGAGCCCTGCCCCCTGGCTTCAGAGAGCCGAGTCTATGTGGACATCACCACCTACAACCAGGTAACAAGGTCTCCAGCCACACACACAAACACACCGCTGGTCCCCAGGACCAGCCTACCCTCTCTGCTTGCTTCTTAGCCCTGCCTTTGTGTCCCCAGGACAACGAGACATTAGAGGTGCACCCACCCCCGACCACTACATATCAGGACGTCATCCTAGGCACTCGGAAGACCTATGCCATCTATGACTTGCTTGACACCGCCATGATCAACAACTCTCGAAACCTCAACATCCAGCTCAAGTGGAAGAGACCCCCAGAGAATGGTGAGTGGGTGGTTGGTTGGACTGCTGGGTTGCAACGGCTACAGAGAAAAGACTCACAATCCCACGTCTTTGCCGTTAGATGATTGGGTTGTATTTAGACCAGATTTCCAGAGTCATATGCTGCTGACTGTAGCTATTCCAAGCTCTACGATTTTGGGTAGGTTCCTAAACTCCCCAAGCTTCAGCATCCACATCTGAAAAATAGAGTATACTTAGCAAATTGGATGAGATGATGTGAAAAATGGAGTTAGTTCATGCATTTGCTTAATCAACCAAATACTTTTGAATTCATACTAAGTGCCAGGCATAGAGTGTTGAATAAGACAGAGGACACTGCACTCAAGAAATATAAGTCTACTAGCTAGGGCAGGTGTCAGTTAATTAATTACAGTTGTGTTCAGTTCCCTTACCAAGGGAAAGAGCAGAATATCCTGAGAGGACCTGGATTGGGTTCGAAGGGGGCACGGTGTTCGTCACGTAAGCACTTCAATACTAGCAACCTATTGTCATCATCGCTTGTTGGCTGGGGAAGACAGGGATGATTCCAGAACCCAGATTGCCCAGTTTCAGTGGCAGGGCTGTTCCCCATCTACTCACTGGCTTGGGACTCTGAACATGGCCTGGGCAGGTGGGGTGGGGAGTGATTCTTACCTTTGGCAGCTGTTAACTGTTGATATTTCTTTACACAGAGGCCCCCCCAGTGCCCTTCCTGCATGCCCAGCGGTACGTGAGTGGCTATGGGCTGCAGAAGGGGGAGCTGAGCACACTGCTGTACAAC
|
benign
| 314,008 |
The chromosome 20, position 45419514 genetic variant in gene PIGT (phosphatidylinositol glycan anchor biosynthesis class T): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Inborn_genetic_diseases']
|
GAGGCCTAATGTGGTCAGAGTCAAATGTTTCTAAAAATTTTTTGTAGAAACAAGGTCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCAAGAGCCACCACACCTGGCCTCATTTTTCAAGAGATACCAGAAATCTGGAATTTAATGTGAAAATTGGCAAATTCAAATATCAGCAAGTAATTTAAAAATTTTTTGAGTGCTGTGCGGGTCAATGTTGTGCATACCAAATGAAGCATGTTTATGGTTTGAGTAGAGCTTTCCGGCTTCAAGTTTGCCATTTTTATTTGAGGCTTAAGGATTGGAGCAGTTGAAAAGCTCTGAACATAGAATTATCAAAAGCTCCTGGACAACACTAAGGAATAAGGAATAAGCAGTAACTCCCCAGCTTGCCAAGACTTTCTCTCTTGCCTCAACTCTGGCTCCCCTACCCTTTCCTGTCTACTCTGCTGTCACTGTCTTCCCTCAGCCCGTAATTGCCTGAAATGTGGAGCAAATGCTTAGAATTCTTTCTAGTGCTTATTAAGTTTTATGCTTTCTCTATTACTGAGAGCAAATCTCTTTTGATATTTCTCCAAGAAAAGAACATTAATTTAATTTGATGTTTTTATGAAATCCTAGAACAGTTGTTTTTCCCATGTTCAGTGAGCTTTTTTGGATATAAGACTTCTCACCATGATAGTAGAATCAGGACTTACCTTTATTCCCAGAGTATACACAGGGTAGTATGCATTGTTTTGCCCAGCCCAGCACATTCAAGGAAGATCAGTGAGCTCATTTCAGCTCTGATACATGAGGCGCTTTCCATGGTGTCAGGGGAAGTACATAGATGACCCAGACTGGTCCTTGTCCTCAAGTTGCTTACAGCCTAGTTAGGGAGAAAAGGTGGTCAGGACACGATGCTGCTGCCACCTAGCCATCTCCCAGGAGGGACCTAGTAAGATGCTTGGATGGTCAGAACCGTGACTGCACAGAGGAGACTGTGCTTAAGGAGGGCAGGAAAGGCTTCGTGGAGGGGAGGTAAGCACTGGAGCCGGATCATGAAGGTAGGCAGAAAGAAGTTAGCAAAGGCTTGCAAGGAAGGAAGAATCACCTGAGCAGAGACCCATGGGGATGCAGAGATGTCCAGAGGAGAGTGAGGAAGAAGGGGCTGAGTAGGATGAGACCCAGCAAGTGGGCTGGCTGGGGGCAGCAATGTTCCAGCTCCATCAACTGGCCCGTCTAATAGTTAAGAATACAGCCTCCTCCTATCATAGGTTTAGCAGCCAGCTGTGGACTTTGAAAGAGGGAGCAGAGGTAGCCCCAGGACAGTGAGTGGATTTGTGTCTCTATCCAGTGTGGATAAATCTTGGAAGGAGCTCAGTAATGTCCTCTCAGGGATCTTCTGCGCCTCTCTCAACTTCATCGACTCCACCAACACAGTCACTCCCACTGCCTCCTTCAAACCCCTGGGTCTGGCCAATGGTGAGATAACCCCTACAGCCCTTTCCTTCTTCCTCTTACCTCCTGCCCAAACCTTTGCCTCCTTTTCCCTCAGTTTCCTGCTTCCTCAGCCTGGGCTAGATCCTAAGTCCCCTGTGTGTGCAGGCCCCCAATACTGTGCCATCTCTGCATGCCTTTTCCCAAGGAGAGAAGGGAGTCCTACTCCCAGTTGGGACTGTCCAGACTGTGGTGCTAGAGGTGGTGTGGGGAGCAGGAGGGTCATTCCCATCTCTGGAATGTGGATCCCGAGGGGTCAGAGCCCAAGGCCCACCCCAGACAGACCTCTGTCTCCCTCAGACACTGACCACTACTTTCTGCGCTATGCTGTGCTGCCGCGGGAGGTGGTCTGCACCGAAAACCTCACCCCCTGGAAGAAGCTCTTGCCCTGTAGTTCCAAGGTGAGGCCGCAGAGCCTGGCAGCCGGGGGCGGGGGGTGTATAGAGAACCTGCGCCCCATGCCAAGTGCTCCATACAGGGCTTCTCTTATCTCTTTCCATCTCCTCCAGGCAGGCCTCTCTGTGCTGCTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAGGCAGTGCATATCCGCCCTGTTTGCAGAGTAAGTCATGGGGAGTAGAGGAAGCTGCCATCCAGGGGCTCAGAGAAGGTACATGTAAAGCATGTGGTCAGTGTCTGGCTCAGGCTGAGTGAGTACTGAGTGGTAGATGTGATGACGGTTATTCAGGGCATTGGCCAAGCACCAAGAAAACAGTGGTTGCCTAGCAAGCACTGAATAAATATTTGTCATGGAAAATAGTGGTTCAGAACAATAGCTATGCGGGTGCAATTGCTAGCTCAGTCACTTGCCAGCTGGCGTAACCTTGGGTGAATCATTTCATTCCCCTGAGCTTGGTTTCCCACCCTGCCACATGACATTGATAGTAGAATCCACTCCTAGGGTTGTTGTGATAGTTTATCAAACTGATGCACATACAGCTGTCAGCACGGGGTCTGGCACGAGGTCAAGTGCTCAGGAGTGGGTGGTAGCAAATCGATGGATGTGAAGATACATAGATGAGGGATTGAGTCTGAGTAGGAGTCTTTTTGGGGGCTGTGTGGTGAGAGTGATACCCCCTCACTGCTGCCATCTGGCCCTTGTGATAGAATGCACGCTGTACTAGCATCTCCTGGGAGCTGAGGCAGACCCTGTCAGTTGTATTTGATGCCTTCATCACGGGGCAGGGAAAGAAAGGTAAGTTACCTTGGCAACTCATCTGTACCCACCCATGCCAGCCCTGCCTTATCTATGTGGACTAGGCCTAGGCCTGGCCCCTGCTCAGCCCTGCGCTCTGTTTCTCAGACTGGTCCCTCTTCCGGATGTTCTCCCGAACCCTCACGGAGCCCTGCCCCCTGGCTTCAGAGAGCCGAGTCTATGTGGACATCACCACCTACAACCAGGTAACAAGGTCTCCAGCCACACACACAAACACACCGCTGGTCCCCAGGACCAGCCTACCCTCTCTGCTTGCTTCTTAGCCCTGCCTTTGTGTCCCCAGGACAACGAGACATTAGAGGTGCACCCACCCCCGACCACTACATATCAGGACGTCATCCTAGGCACTCGGAAGACCTATGCCATCTATGACTTGCTTGACACCGCCATGATCAACAACTCTCGAAACCTCAACATCCAGCTCAAGTGGAAGAGACCCCCAGAGAATGGTGAGTGGGTGGTTGGTTGGACTGCTGGGTTGCAACGGCTACAGAGAAAAGACTCACAATCCCACGTCTTTGCCGTTAGATGATTGGGTTGTATTTAGACCAGATTTCCAGAGTCATATGCTGCTGACTGTAGCTATTCCAAGCTCTACGATTTTGGGTAGGTTCCTAAACTCCCCAAGCTTCAGCATCCACATCTGAAAAATAGAGTATACTTAGCAAATTGGATGAGATGATGTGAAAAATGGAGTTAGTTCATGCATTTGCTTAATCAACCAAATACTTTTGAATTCATACTAAGTGCCAGGCATAGAGTGTTGAATAAGACAGAGGACACTGCACTCAAGAAATATAAGTCTACTAGCTAGGGCAGGTGTCAGTTAATTAATTACAGTTGTGTTCAGTTCCCTTACCAAGGGAAAGAGCAGAATATCCTGAGAGGACCTGGATTGGGTTCGAAGGGGGCACGGTGTTCGTCACGTAAGCACTTCAATACTAGCAACCTATTGTCATCATCGCTTGTTGGCTGGGGAAGACAGGGATGATTCCAGAACCCAGATTGCCCAGTTTCAGTGGCAGGGCTGTTCCCCATCTACTCACTGGCTTGGGACTCTGAACATGGCCTGGGCAGGTGGGGTGGGGAGTGATTCTTACCTTTGGCAGCTGTTAACTGTTGATATTTCTTTACACAGAGGCCCCCCCAGTGCCCTTCCTGCATGCCCAGCGGTACGTGAGTGGCTATGGGCTGCAGAAGGGGGAGCTGAGCACACTGCTGTACAACACCCACCCATACCGGGCCTTCCCGGTGCTGCTGCTGGACACCGTACCCTGGTATCTGCGGCTGTATGTGCACACCCTCACCATCACCTCC
|
GAGGCCTAATGTGGTCAGAGTCAAATGTTTCTAAAAATTTTTTGTAGAAACAAGGTCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCAAGAGCCACCACACCTGGCCTCATTTTTCAAGAGATACCAGAAATCTGGAATTTAATGTGAAAATTGGCAAATTCAAATATCAGCAAGTAATTTAAAAATTTTTTGAGTGCTGTGCGGGTCAATGTTGTGCATACCAAATGAAGCATGTTTATGGTTTGAGTAGAGCTTTCCGGCTTCAAGTTTGCCATTTTTATTTGAGGCTTAAGGATTGGAGCAGTTGAAAAGCTCTGAACATAGAATTATCAAAAGCTCCTGGACAACACTAAGGAATAAGGAATAAGCAGTAACTCCCCAGCTTGCCAAGACTTTCTCTCTTGCCTCAACTCTGGCTCCCCTACCCTTTCCTGTCTACTCTGCTGTCACTGTCTTCCCTCAGCCCGTAATTGCCTGAAATGTGGAGCAAATGCTTAGAATTCTTTCTAGTGCTTATTAAGTTTTATGCTTTCTCTATTACTGAGAGCAAATCTCTTTTGATATTTCTCCAAGAAAAGAACATTAATTTAATTTGATGTTTTTATGAAATCCTAGAACAGTTGTTTTTCCCATGTTCAGTGAGCTTTTTTGGATATAAGACTTCTCACCATGATAGTAGAATCAGGACTTACCTTTATTCCCAGAGTATACACAGGGTAGTATGCATTGTTTTGCCCAGCCCAGCACATTCAAGGAAGATCAGTGAGCTCATTTCAGCTCTGATACATGAGGCGCTTTCCATGGTGTCAGGGGAAGTACATAGATGACCCAGACTGGTCCTTGTCCTCAAGTTGCTTACAGCCTAGTTAGGGAGAAAAGGTGGTCAGGACACGATGCTGCTGCCACCTAGCCATCTCCCAGGAGGGACCTAGTAAGATGCTTGGATGGTCAGAACCGTGACTGCACAGAGGAGACTGTGCTTAAGGAGGGCAGGAAAGGCTTCGTGGAGGGGAGGTAAGCACTGGAGCCGGATCATGAAGGTAGGCAGAAAGAAGTTAGCAAAGGCTTGCAAGGAAGGAAGAATCACCTGAGCAGAGACCCATGGGGATGCAGAGATGTCCAGAGGAGAGTGAGGAAGAAGGGGCTGAGTAGGATGAGACCCAGCAAGTGGGCTGGCTGGGGGCAGCAATGTTCCAGCTCCATCAACTGGCCCGTCTAATAGTTAAGAATACAGCCTCCTCCTATCATAGGTTTAGCAGCCAGCTGTGGACTTTGAAAGAGGGAGCAGAGGTAGCCCCAGGACAGTGAGTGGATTTGTGTCTCTATCCAGTGTGGATAAATCTTGGAAGGAGCTCAGTAATGTCCTCTCAGGGATCTTCTGCGCCTCTCTCAACTTCATCGACTCCACCAACACAGTCACTCCCACTGCCTCCTTCAAACCCCTGGGTCTGGCCAATGGTGAGATAACCCCTACAGCCCTTTCCTTCTTCCTCTTACCTCCTGCCCAAACCTTTGCCTCCTTTTCCCTCAGTTTCCTGCTTCCTCAGCCTGGGCTAGATCCTAAGTCCCCTGTGTGTGCAGGCCCCCAATACTGTGCCATCTCTGCATGCCTTTTCCCAAGGAGAGAAGGGAGTCCTACTCCCAGTTGGGACTGTCCAGACTGTGGTGCTAGAGGTGGTGTGGGGAGCAGGAGGGTCATTCCCATCTCTGGAATGTGGATCCCGAGGGGTCAGAGCCCAAGGCCCACCCCAGACAGACCTCTGTCTCCCTCAGACACTGACCACTACTTTCTGCGCTATGCTGTGCTGCCGCGGGAGGTGGTCTGCACCGAAAACCTCACCCCCTGGAAGAAGCTCTTGCCCTGTAGTTCCAAGGTGAGGCCGCAGAGCCTGGCAGCCGGGGGCGGGGGGTGTATAGAGAACCTGCGCCCCATGCCAAGTGCTCCATACAGGGCTTCTCTTATCTCTTTCCATCTCCTCCAGGCAGGCCTCTCTGCTGCTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAGGCAGTGCATATCCGCCCTGTTTGCAGAGTAAGTCATGGGGAGTAGAGGAAGCTGCCATCCAGGGGCTCAGAGAAGGTACATGTAAAGCATGTGGTCAGTGTCTGGCTCAGGCTGAGTGAGTACTGAGTGGTAGATGTGATGACGGTTATTCAGGGCATTGGCCAAGCACCAAGAAAACAGTGGTTGCCTAGCAAGCACTGAATAAATATTTGTCATGGAAAATAGTGGTTCAGAACAATAGCTATGCGGGTGCAATTGCTAGCTCAGTCACTTGCCAGCTGGCGTAACCTTGGGTGAATCATTTCATTCCCCTGAGCTTGGTTTCCCACCCTGCCACATGACATTGATAGTAGAATCCACTCCTAGGGTTGTTGTGATAGTTTATCAAACTGATGCACATACAGCTGTCAGCACGGGGTCTGGCACGAGGTCAAGTGCTCAGGAGTGGGTGGTAGCAAATCGATGGATGTGAAGATACATAGATGAGGGATTGAGTCTGAGTAGGAGTCTTTTTGGGGGCTGTGTGGTGAGAGTGATACCCCCTCACTGCTGCCATCTGGCCCTTGTGATAGAATGCACGCTGTACTAGCATCTCCTGGGAGCTGAGGCAGACCCTGTCAGTTGTATTTGATGCCTTCATCACGGGGCAGGGAAAGAAAGGTAAGTTACCTTGGCAACTCATCTGTACCCACCCATGCCAGCCCTGCCTTATCTATGTGGACTAGGCCTAGGCCTGGCCCCTGCTCAGCCCTGCGCTCTGTTTCTCAGACTGGTCCCTCTTCCGGATGTTCTCCCGAACCCTCACGGAGCCCTGCCCCCTGGCTTCAGAGAGCCGAGTCTATGTGGACATCACCACCTACAACCAGGTAACAAGGTCTCCAGCCACACACACAAACACACCGCTGGTCCCCAGGACCAGCCTACCCTCTCTGCTTGCTTCTTAGCCCTGCCTTTGTGTCCCCAGGACAACGAGACATTAGAGGTGCACCCACCCCCGACCACTACATATCAGGACGTCATCCTAGGCACTCGGAAGACCTATGCCATCTATGACTTGCTTGACACCGCCATGATCAACAACTCTCGAAACCTCAACATCCAGCTCAAGTGGAAGAGACCCCCAGAGAATGGTGAGTGGGTGGTTGGTTGGACTGCTGGGTTGCAACGGCTACAGAGAAAAGACTCACAATCCCACGTCTTTGCCGTTAGATGATTGGGTTGTATTTAGACCAGATTTCCAGAGTCATATGCTGCTGACTGTAGCTATTCCAAGCTCTACGATTTTGGGTAGGTTCCTAAACTCCCCAAGCTTCAGCATCCACATCTGAAAAATAGAGTATACTTAGCAAATTGGATGAGATGATGTGAAAAATGGAGTTAGTTCATGCATTTGCTTAATCAACCAAATACTTTTGAATTCATACTAAGTGCCAGGCATAGAGTGTTGAATAAGACAGAGGACACTGCACTCAAGAAATATAAGTCTACTAGCTAGGGCAGGTGTCAGTTAATTAATTACAGTTGTGTTCAGTTCCCTTACCAAGGGAAAGAGCAGAATATCCTGAGAGGACCTGGATTGGGTTCGAAGGGGGCACGGTGTTCGTCACGTAAGCACTTCAATACTAGCAACCTATTGTCATCATCGCTTGTTGGCTGGGGAAGACAGGGATGATTCCAGAACCCAGATTGCCCAGTTTCAGTGGCAGGGCTGTTCCCCATCTACTCACTGGCTTGGGACTCTGAACATGGCCTGGGCAGGTGGGGTGGGGAGTGATTCTTACCTTTGGCAGCTGTTAACTGTTGATATTTCTTTACACAGAGGCCCCCCCAGTGCCCTTCCTGCATGCCCAGCGGTACGTGAGTGGCTATGGGCTGCAGAAGGGGGAGCTGAGCACACTGCTGTACAACACCCACCCATACCGGGCCTTCCCGGTGCTGCTGCTGGACACCGTACCCTGGTATCTGCGGCTGTATGTGCACACCCTCACCATCACCTCCNN
|
pathogenic
| 314,009 |
Variant chromosome 20, position 45420577, gene PIGT (phosphatidylinositol glycan anchor biosynthesis class T): benign or pathogenic? Disease(s)?
|
pathogenic; ['Inborn_genetic_diseases', 'Multiple_congenital_anomalies-hypotonia-seizures_syndrome_3', 'PIGT-related_disorder']
|
AGGGGAGGTAAGCACTGGAGCCGGATCATGAAGGTAGGCAGAAAGAAGTTAGCAAAGGCTTGCAAGGAAGGAAGAATCACCTGAGCAGAGACCCATGGGGATGCAGAGATGTCCAGAGGAGAGTGAGGAAGAAGGGGCTGAGTAGGATGAGACCCAGCAAGTGGGCTGGCTGGGGGCAGCAATGTTCCAGCTCCATCAACTGGCCCGTCTAATAGTTAAGAATACAGCCTCCTCCTATCATAGGTTTAGCAGCCAGCTGTGGACTTTGAAAGAGGGAGCAGAGGTAGCCCCAGGACAGTGAGTGGATTTGTGTCTCTATCCAGTGTGGATAAATCTTGGAAGGAGCTCAGTAATGTCCTCTCAGGGATCTTCTGCGCCTCTCTCAACTTCATCGACTCCACCAACACAGTCACTCCCACTGCCTCCTTCAAACCCCTGGGTCTGGCCAATGGTGAGATAACCCCTACAGCCCTTTCCTTCTTCCTCTTACCTCCTGCCCAAACCTTTGCCTCCTTTTCCCTCAGTTTCCTGCTTCCTCAGCCTGGGCTAGATCCTAAGTCCCCTGTGTGTGCAGGCCCCCAATACTGTGCCATCTCTGCATGCCTTTTCCCAAGGAGAGAAGGGAGTCCTACTCCCAGTTGGGACTGTCCAGACTGTGGTGCTAGAGGTGGTGTGGGGAGCAGGAGGGTCATTCCCATCTCTGGAATGTGGATCCCGAGGGGTCAGAGCCCAAGGCCCACCCCAGACAGACCTCTGTCTCCCTCAGACACTGACCACTACTTTCTGCGCTATGCTGTGCTGCCGCGGGAGGTGGTCTGCACCGAAAACCTCACCCCCTGGAAGAAGCTCTTGCCCTGTAGTTCCAAGGTGAGGCCGCAGAGCCTGGCAGCCGGGGGCGGGGGGTGTATAGAGAACCTGCGCCCCATGCCAAGTGCTCCATACAGGGCTTCTCTTATCTCTTTCCATCTCCTCCAGGCAGGCCTCTCTGTGCTGCTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAGGCAGTGCATATCCGCCCTGTTTGCAGAGTAAGTCATGGGGAGTAGAGGAAGCTGCCATCCAGGGGCTCAGAGAAGGTACATGTAAAGCATGTGGTCAGTGTCTGGCTCAGGCTGAGTGAGTACTGAGTGGTAGATGTGATGACGGTTATTCAGGGCATTGGCCAAGCACCAAGAAAACAGTGGTTGCCTAGCAAGCACTGAATAAATATTTGTCATGGAAAATAGTGGTTCAGAACAATAGCTATGCGGGTGCAATTGCTAGCTCAGTCACTTGCCAGCTGGCGTAACCTTGGGTGAATCATTTCATTCCCCTGAGCTTGGTTTCCCACCCTGCCACATGACATTGATAGTAGAATCCACTCCTAGGGTTGTTGTGATAGTTTATCAAACTGATGCACATACAGCTGTCAGCACGGGGTCTGGCACGAGGTCAAGTGCTCAGGAGTGGGTGGTAGCAAATCGATGGATGTGAAGATACATAGATGAGGGATTGAGTCTGAGTAGGAGTCTTTTTGGGGGCTGTGTGGTGAGAGTGATACCCCCTCACTGCTGCCATCTGGCCCTTGTGATAGAATGCACGCTGTACTAGCATCTCCTGGGAGCTGAGGCAGACCCTGTCAGTTGTATTTGATGCCTTCATCACGGGGCAGGGAAAGAAAGGTAAGTTACCTTGGCAACTCATCTGTACCCACCCATGCCAGCCCTGCCTTATCTATGTGGACTAGGCCTAGGCCTGGCCCCTGCTCAGCCCTGCGCTCTGTTTCTCAGACTGGTCCCTCTTCCGGATGTTCTCCCGAACCCTCACGGAGCCCTGCCCCCTGGCTTCAGAGAGCCGAGTCTATGTGGACATCACCACCTACAACCAGGTAACAAGGTCTCCAGCCACACACACAAACACACCGCTGGTCCCCAGGACCAGCCTACCCTCTCTGCTTGCTTCTTAGCCCTGCCTTTGTGTCCCCAGGACAACGAGACATTAGAGGTGCACCCACCCCCGACCACTACATATCAGGACGTCATCCTAGGCACTCGGAAGACCTATGCCATCTATGACTTGCTTGACACCGCCATGATCAACAACTCTCGAAACCTCAACATCCAGCTCAAGTGGAAGAGACCCCCAGAGAATGGTGAGTGGGTGGTTGGTTGGACTGCTGGGTTGCAACGGCTACAGAGAAAAGACTCACAATCCCACGTCTTTGCCGTTAGATGATTGGGTTGTATTTAGACCAGATTTCCAGAGTCATATGCTGCTGACTGTAGCTATTCCAAGCTCTACGATTTTGGGTAGGTTCCTAAACTCCCCAAGCTTCAGCATCCACATCTGAAAAATAGAGTATACTTAGCAAATTGGATGAGATGATGTGAAAAATGGAGTTAGTTCATGCATTTGCTTAATCAACCAAATACTTTTGAATTCATACTAAGTGCCAGGCATAGAGTGTTGAATAAGACAGAGGACACTGCACTCAAGAAATATAAGTCTACTAGCTAGGGCAGGTGTCAGTTAATTAATTACAGTTGTGTTCAGTTCCCTTACCAAGGGAAAGAGCAGAATATCCTGAGAGGACCTGGATTGGGTTCGAAGGGGGCACGGTGTTCGTCACGTAAGCACTTCAATACTAGCAACCTATTGTCATCATCGCTTGTTGGCTGGGGAAGACAGGGATGATTCCAGAACCCAGATTGCCCAGTTTCAGTGGCAGGGCTGTTCCCCATCTACTCACTGGCTTGGGACTCTGAACATGGCCTGGGCAGGTGGGGTGGGGAGTGATTCTTACCTTTGGCAGCTGTTAACTGTTGATATTTCTTTACACAGAGGCCCCCCCAGTGCCCTTCCTGCATGCCCAGCGGTACGTGAGTGGCTATGGGCTGCAGAAGGGGGAGCTGAGCACACTGCTGTACAACACCCACCCATACCGGGCCTTCCCGGTGCTGCTGCTGGACACCGTACCCTGGTATCTGCGGCTGTATGTGCACACCCTCACCATCACCTCCAAGGGCAAGGAGAACAAACCAAGTGAGGACCTGAGTCCTGAACCAGGCCCCCAGCCCGCCCTCTCATGTCCTCTCCAGGTCCCCCAAACTCTCATTTCCCAGGGTAGTTCCTGAAGTACCTCTGAAAAGCTACACAGGCATAAAGAGTAAGGAATAGTTTCTCAAAACTGGAACGGGAGCCTCACTGTGCCAGGTTCAGAAGTAATTTATAAAACAGCAATAATTAAAACACATAATACTGGTGATTCTTAATAGGACTGTACAAGGACAGTAGCTTCCTTTTTCACTTACTTTTGCCTCCTTTCTGGAGCATTGGGTTTTGTGATGATTCATAGACTCTTTAAGGTAGGGAAAGGGTTTGGCAACGTTAGGCTTTTGAAGCTAGGAAGATAGCAGAGCTGGAGTAGATGGTGTTTTGCTTCCTTGGGAGGGGTAAAGAGGTACAGTTAATTAAATTTTTTTATTTCTATTTTTATTAAAATTTATTTTTATTTTCTATTATTTTTCTAAGGAGAAGATAATATTAGTGCTTCCTATTAGGTGCCAGGCATAGCACTAAAGCACTTGCCTTTCTTTGGTGTAGGGGGAGACTAGTAGTAAAGTAAAAGACCTCTGAGGAAGAGGTTGTACCATATCCCAAACGGCCAAACTTAAAAACCTTTCAGTACTTTAGTTGATTCCTATATTTTCAAACATACGGTGAATAGTTTCACTTATTTTCAGCACCATTATTTGTACCACCTTCAAAATCTCTATTTCAGACATCCTAACTGCATATTCTATAGGTTTTTCTGTTATTATTCTTTTAAATCTTCTCCTTTGGAAAATTTCAAACCCAAACCCAAACAGAATAGTGTAATAATCCCCTGTACACACCCTGCAGCCTTTTTTTTTTTTTTTTAAGAGACAGACTGTTGCTCTGTCAGCTATGCCGGAGTGCAGTGGCATGATCATGGCTCATTGCAGTCTCAGACTGCTCGGCTCAAGCAATCCTCCTACCTCCGCTTCCCTAGGACTACAGGCATGAACCGCCATGCCTTTAATTTTTTCACAGAGGCAGGGT
|
AGGGGAGGTAAGCACTGGAGCCGGATCATGAAGGTAGGCAGAAAGAAGTTAGCAAAGGCTTGCAAGGAAGGAAGAATCACCTGAGCAGAGACCCATGGGGATGCAGAGATGTCCAGAGGAGAGTGAGGAAGAAGGGGCTGAGTAGGATGAGACCCAGCAAGTGGGCTGGCTGGGGGCAGCAATGTTCCAGCTCCATCAACTGGCCCGTCTAATAGTTAAGAATACAGCCTCCTCCTATCATAGGTTTAGCAGCCAGCTGTGGACTTTGAAAGAGGGAGCAGAGGTAGCCCCAGGACAGTGAGTGGATTTGTGTCTCTATCCAGTGTGGATAAATCTTGGAAGGAGCTCAGTAATGTCCTCTCAGGGATCTTCTGCGCCTCTCTCAACTTCATCGACTCCACCAACACAGTCACTCCCACTGCCTCCTTCAAACCCCTGGGTCTGGCCAATGGTGAGATAACCCCTACAGCCCTTTCCTTCTTCCTCTTACCTCCTGCCCAAACCTTTGCCTCCTTTTCCCTCAGTTTCCTGCTTCCTCAGCCTGGGCTAGATCCTAAGTCCCCTGTGTGTGCAGGCCCCCAATACTGTGCCATCTCTGCATGCCTTTTCCCAAGGAGAGAAGGGAGTCCTACTCCCAGTTGGGACTGTCCAGACTGTGGTGCTAGAGGTGGTGTGGGGAGCAGGAGGGTCATTCCCATCTCTGGAATGTGGATCCCGAGGGGTCAGAGCCCAAGGCCCACCCCAGACAGACCTCTGTCTCCCTCAGACACTGACCACTACTTTCTGCGCTATGCTGTGCTGCCGCGGGAGGTGGTCTGCACCGAAAACCTCACCCCCTGGAAGAAGCTCTTGCCCTGTAGTTCCAAGGTGAGGCCGCAGAGCCTGGCAGCCGGGGGCGGGGGGTGTATAGAGAACCTGCGCCCCATGCCAAGTGCTCCATACAGGGCTTCTCTTATCTCTTTCCATCTCCTCCAGGCAGGCCTCTCTGTGCTGCTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAGGCAGTGCATATCCGCCCTGTTTGCAGAGTAAGTCATGGGGAGTAGAGGAAGCTGCCATCCAGGGGCTCAGAGAAGGTACATGTAAAGCATGTGGTCAGTGTCTGGCTCAGGCTGAGTGAGTACTGAGTGGTAGATGTGATGACGGTTATTCAGGGCATTGGCCAAGCACCAAGAAAACAGTGGTTGCCTAGCAAGCACTGAATAAATATTTGTCATGGAAAATAGTGGTTCAGAACAATAGCTATGCGGGTGCAATTGCTAGCTCAGTCACTTGCCAGCTGGCGTAACCTTGGGTGAATCATTTCATTCCCCTGAGCTTGGTTTCCCACCCTGCCACATGACATTGATAGTAGAATCCACTCCTAGGGTTGTTGTGATAGTTTATCAAACTGATGCACATACAGCTGTCAGCACGGGGTCTGGCACGAGGTCAAGTGCTCAGGAGTGGGTGGTAGCAAATCGATGGATGTGAAGATACATAGATGAGGGATTGAGTCTGAGTAGGAGTCTTTTTGGGGGCTGTGTGGTGAGAGTGATACCCCCTCACTGCTGCCATCTGGCCCTTGTGATAGAATGCACGCTGTACTAGCATCTCCTGGGAGCTGAGGCAGACCCTGTCAGTTGTATTTGATGCCTTCATCACGGGGCAGGGAAAGAAAGGTAAGTTACCTTGGCAACTCATCTGTACCCACCCATGCCAGCCCTGCCTTATCTATGTGGACTAGGCCTAGGCCTGGCCCCTGCTCAGCCCTGCGCTCTGTTTCTCAGACTGGTCCCTCTTCCGGATGTTCTCCCGAACCCTCACGGAGCCCTGCCCCCTGGCTTCAGAGAGCCGAGTCTATGTGGACATCACCACCTACAACCAGGTAACAAGGTCTCCAGCCACACACACAAACACACCGCTGGTCCCCAGGACCAGCCTACCCTCTCTGCTTGCTTCTTAGCCCTGCCTTTGTGTCCCCAGGACAACGAGACATTAGAGGTGCACCCACCCCCGACCACTACATATCAGGACCGTCATCCTAGGCACTCGGAAGACCTATGCCATCTATGACTTGCTTGACACCGCCATGATCAACAACTCTCGAAACCTCAACATCCAGCTCAAGTGGAAGAGACCCCCAGAGAATGGTGAGTGGGTGGTTGGTTGGACTGCTGGGTTGCAACGGCTACAGAGAAAAGACTCACAATCCCACGTCTTTGCCGTTAGATGATTGGGTTGTATTTAGACCAGATTTCCAGAGTCATATGCTGCTGACTGTAGCTATTCCAAGCTCTACGATTTTGGGTAGGTTCCTAAACTCCCCAAGCTTCAGCATCCACATCTGAAAAATAGAGTATACTTAGCAAATTGGATGAGATGATGTGAAAAATGGAGTTAGTTCATGCATTTGCTTAATCAACCAAATACTTTTGAATTCATACTAAGTGCCAGGCATAGAGTGTTGAATAAGACAGAGGACACTGCACTCAAGAAATATAAGTCTACTAGCTAGGGCAGGTGTCAGTTAATTAATTACAGTTGTGTTCAGTTCCCTTACCAAGGGAAAGAGCAGAATATCCTGAGAGGACCTGGATTGGGTTCGAAGGGGGCACGGTGTTCGTCACGTAAGCACTTCAATACTAGCAACCTATTGTCATCATCGCTTGTTGGCTGGGGAAGACAGGGATGATTCCAGAACCCAGATTGCCCAGTTTCAGTGGCAGGGCTGTTCCCCATCTACTCACTGGCTTGGGACTCTGAACATGGCCTGGGCAGGTGGGGTGGGGAGTGATTCTTACCTTTGGCAGCTGTTAACTGTTGATATTTCTTTACACAGAGGCCCCCCCAGTGCCCTTCCTGCATGCCCAGCGGTACGTGAGTGGCTATGGGCTGCAGAAGGGGGAGCTGAGCACACTGCTGTACAACACCCACCCATACCGGGCCTTCCCGGTGCTGCTGCTGGACACCGTACCCTGGTATCTGCGGCTGTATGTGCACACCCTCACCATCACCTCCAAGGGCAAGGAGAACAAACCAAGTGAGGACCTGAGTCCTGAACCAGGCCCCCAGCCCGCCCTCTCATGTCCTCTCCAGGTCCCCCAAACTCTCATTTCCCAGGGTAGTTCCTGAAGTACCTCTGAAAAGCTACACAGGCATAAAGAGTAAGGAATAGTTTCTCAAAACTGGAACGGGAGCCTCACTGTGCCAGGTTCAGAAGTAATTTATAAAACAGCAATAATTAAAACACATAATACTGGTGATTCTTAATAGGACTGTACAAGGACAGTAGCTTCCTTTTTCACTTACTTTTGCCTCCTTTCTGGAGCATTGGGTTTTGTGATGATTCATAGACTCTTTAAGGTAGGGAAAGGGTTTGGCAACGTTAGGCTTTTGAAGCTAGGAAGATAGCAGAGCTGGAGTAGATGGTGTTTTGCTTCCTTGGGAGGGGTAAAGAGGTACAGTTAATTAAATTTTTTTATTTCTATTTTTATTAAAATTTATTTTTATTTTCTATTATTTTTCTAAGGAGAAGATAATATTAGTGCTTCCTATTAGGTGCCAGGCATAGCACTAAAGCACTTGCCTTTCTTTGGTGTAGGGGGAGACTAGTAGTAAAGTAAAAGACCTCTGAGGAAGAGGTTGTACCATATCCCAAACGGCCAAACTTAAAAACCTTTCAGTACTTTAGTTGATTCCTATATTTTCAAACATACGGTGAATAGTTTCACTTATTTTCAGCACCATTATTTGTACCACCTTCAAAATCTCTATTTCAGACATCCTAACTGCATATTCTATAGGTTTTTCTGTTATTATTCTTTTAAATCTTCTCCTTTGGAAAATTTCAAACCCAAACCCAAACAGAATAGTGTAATAATCCCCTGTACACACCCTGCAGCCTTTTTTTTTTTTTTTTAAGAGACAGACTGTTGCTCTGTCAGCTATGCCGGAGTGCAGTGGCATGATCATGGCTCATTGCAGTCTCAGACTGCTCGGCTCAAGCAATCCTCCTACCTCCGCTTCCCTAGGACTACAGGCATGAACCGCCATGCCTTTAATTTTTTCACAGAGGCAGGG
|
pathogenic
| 314,014 |
Benign or pathogenic: chromosome 20, position 45421385, gene PIGT (phosphatidylinositol glycan anchor biosynthesis class T) variant? Disease(s) if pathogenic?
|
pathogenic; ['Multiple_congenital_anomalies-hypotonia-seizures_syndrome_3']
|
AGGTGGTCTGCACCGAAAACCTCACCCCCTGGAAGAAGCTCTTGCCCTGTAGTTCCAAGGTGAGGCCGCAGAGCCTGGCAGCCGGGGGCGGGGGGTGTATAGAGAACCTGCGCCCCATGCCAAGTGCTCCATACAGGGCTTCTCTTATCTCTTTCCATCTCCTCCAGGCAGGCCTCTCTGTGCTGCTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAGGCAGTGCATATCCGCCCTGTTTGCAGAGTAAGTCATGGGGAGTAGAGGAAGCTGCCATCCAGGGGCTCAGAGAAGGTACATGTAAAGCATGTGGTCAGTGTCTGGCTCAGGCTGAGTGAGTACTGAGTGGTAGATGTGATGACGGTTATTCAGGGCATTGGCCAAGCACCAAGAAAACAGTGGTTGCCTAGCAAGCACTGAATAAATATTTGTCATGGAAAATAGTGGTTCAGAACAATAGCTATGCGGGTGCAATTGCTAGCTCAGTCACTTGCCAGCTGGCGTAACCTTGGGTGAATCATTTCATTCCCCTGAGCTTGGTTTCCCACCCTGCCACATGACATTGATAGTAGAATCCACTCCTAGGGTTGTTGTGATAGTTTATCAAACTGATGCACATACAGCTGTCAGCACGGGGTCTGGCACGAGGTCAAGTGCTCAGGAGTGGGTGGTAGCAAATCGATGGATGTGAAGATACATAGATGAGGGATTGAGTCTGAGTAGGAGTCTTTTTGGGGGCTGTGTGGTGAGAGTGATACCCCCTCACTGCTGCCATCTGGCCCTTGTGATAGAATGCACGCTGTACTAGCATCTCCTGGGAGCTGAGGCAGACCCTGTCAGTTGTATTTGATGCCTTCATCACGGGGCAGGGAAAGAAAGGTAAGTTACCTTGGCAACTCATCTGTACCCACCCATGCCAGCCCTGCCTTATCTATGTGGACTAGGCCTAGGCCTGGCCCCTGCTCAGCCCTGCGCTCTGTTTCTCAGACTGGTCCCTCTTCCGGATGTTCTCCCGAACCCTCACGGAGCCCTGCCCCCTGGCTTCAGAGAGCCGAGTCTATGTGGACATCACCACCTACAACCAGGTAACAAGGTCTCCAGCCACACACACAAACACACCGCTGGTCCCCAGGACCAGCCTACCCTCTCTGCTTGCTTCTTAGCCCTGCCTTTGTGTCCCCAGGACAACGAGACATTAGAGGTGCACCCACCCCCGACCACTACATATCAGGACGTCATCCTAGGCACTCGGAAGACCTATGCCATCTATGACTTGCTTGACACCGCCATGATCAACAACTCTCGAAACCTCAACATCCAGCTCAAGTGGAAGAGACCCCCAGAGAATGGTGAGTGGGTGGTTGGTTGGACTGCTGGGTTGCAACGGCTACAGAGAAAAGACTCACAATCCCACGTCTTTGCCGTTAGATGATTGGGTTGTATTTAGACCAGATTTCCAGAGTCATATGCTGCTGACTGTAGCTATTCCAAGCTCTACGATTTTGGGTAGGTTCCTAAACTCCCCAAGCTTCAGCATCCACATCTGAAAAATAGAGTATACTTAGCAAATTGGATGAGATGATGTGAAAAATGGAGTTAGTTCATGCATTTGCTTAATCAACCAAATACTTTTGAATTCATACTAAGTGCCAGGCATAGAGTGTTGAATAAGACAGAGGACACTGCACTCAAGAAATATAAGTCTACTAGCTAGGGCAGGTGTCAGTTAATTAATTACAGTTGTGTTCAGTTCCCTTACCAAGGGAAAGAGCAGAATATCCTGAGAGGACCTGGATTGGGTTCGAAGGGGGCACGGTGTTCGTCACGTAAGCACTTCAATACTAGCAACCTATTGTCATCATCGCTTGTTGGCTGGGGAAGACAGGGATGATTCCAGAACCCAGATTGCCCAGTTTCAGTGGCAGGGCTGTTCCCCATCTACTCACTGGCTTGGGACTCTGAACATGGCCTGGGCAGGTGGGGTGGGGAGTGATTCTTACCTTTGGCAGCTGTTAACTGTTGATATTTCTTTACACAGAGGCCCCCCCAGTGCCCTTCCTGCATGCCCAGCGGTACGTGAGTGGCTATGGGCTGCAGAAGGGGGAGCTGAGCACACTGCTGTACAACACCCACCCATACCGGGCCTTCCCGGTGCTGCTGCTGGACACCGTACCCTGGTATCTGCGGCTGTATGTGCACACCCTCACCATCACCTCCAAGGGCAAGGAGAACAAACCAAGTGAGGACCTGAGTCCTGAACCAGGCCCCCAGCCCGCCCTCTCATGTCCTCTCCAGGTCCCCCAAACTCTCATTTCCCAGGGTAGTTCCTGAAGTACCTCTGAAAAGCTACACAGGCATAAAGAGTAAGGAATAGTTTCTCAAAACTGGAACGGGAGCCTCACTGTGCCAGGTTCAGAAGTAATTTATAAAACAGCAATAATTAAAACACATAATACTGGTGATTCTTAATAGGACTGTACAAGGACAGTAGCTTCCTTTTTCACTTACTTTTGCCTCCTTTCTGGAGCATTGGGTTTTGTGATGATTCATAGACTCTTTAAGGTAGGGAAAGGGTTTGGCAACGTTAGGCTTTTGAAGCTAGGAAGATAGCAGAGCTGGAGTAGATGGTGTTTTGCTTCCTTGGGAGGGGTAAAGAGGTACAGTTAATTAAATTTTTTTATTTCTATTTTTATTAAAATTTATTTTTATTTTCTATTATTTTTCTAAGGAGAAGATAATATTAGTGCTTCCTATTAGGTGCCAGGCATAGCACTAAAGCACTTGCCTTTCTTTGGTGTAGGGGGAGACTAGTAGTAAAGTAAAAGACCTCTGAGGAAGAGGTTGTACCATATCCCAAACGGCCAAACTTAAAAACCTTTCAGTACTTTAGTTGATTCCTATATTTTCAAACATACGGTGAATAGTTTCACTTATTTTCAGCACCATTATTTGTACCACCTTCAAAATCTCTATTTCAGACATCCTAACTGCATATTCTATAGGTTTTTCTGTTATTATTCTTTTAAATCTTCTCCTTTGGAAAATTTCAAACCCAAACCCAAACAGAATAGTGTAATAATCCCCTGTACACACCCTGCAGCCTTTTTTTTTTTTTTTTAAGAGACAGACTGTTGCTCTGTCAGCTATGCCGGAGTGCAGTGGCATGATCATGGCTCATTGCAGTCTCAGACTGCTCGGCTCAAGCAATCCTCCTACCTCCGCTTCCCTAGGACTACAGGCATGAACCGCCATGCCTTTAATTTTTTCACAGAGGCAGGGTCTTGTTATGTTGCACAGGCTGGTCTCAAACTCCTGGCCTCAAGCGATTCTCCTGCCTCAGTCTCCTAAAGTGCTGGGATTATAGGTGTAAGCCGCTGCCTGCTGGCATATCTTAAAGCAAATCTTAGACATTGCATCAATTAACCTTTAAATACTTTAAGGATTTTTAAAAATGTAACCGTATCATTACCACTTCTGTTTTCCCCTGTGGTCTTAAAAATGTCTTTTTATAATTGGTTTGTTTAAATTGGGATAAACAAGGTTCTCACATTGCATTTGCTTTATACTAAGTTCCTCTCTTGGGTGGGCACAGTGGTGCACACCTGTAATCTCAGCACTTTGGGAGGCCAACACAGAAGGACCACTTGAGTCCAGGAGTTCGAAACCAGCCTGGACAACATTGTGAGGCTCCCCCTACCTATACAAAAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCCACCTCCCGAGTAGCTGGGACTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTCTGTTTTTAGTAGAGATGCGGTTTCACTGTGTTAGCCAGGGTGGTCTCGATCTTCTGACCTTGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTAAAATAAATTGTTTTTAATTAGCTGGGGGTGGTGTTGCACGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATCACTTGAACCCAGG
|
AGGTGGTCTGCACCGAAAACCTCACCCCCTGGAAGAAGCTCTTGCCCTGTAGTTCCAAGGTGAGGCCGCAGAGCCTGGCAGCCGGGGGCGGGGGGTGTATAGAGAACCTGCGCCCCATGCCAAGTGCTCCATACAGGGCTTCTCTTATCTCTTTCCATCTCCTCCAGGCAGGCCTCTCTGTGCTGCTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAGGCAGTGCATATCCGCCCTGTTTGCAGAGTAAGTCATGGGGAGTAGAGGAAGCTGCCATCCAGGGGCTCAGAGAAGGTACATGTAAAGCATGTGGTCAGTGTCTGGCTCAGGCTGAGTGAGTACTGAGTGGTAGATGTGATGACGGTTATTCAGGGCATTGGCCAAGCACCAAGAAAACAGTGGTTGCCTAGCAAGCACTGAATAAATATTTGTCATGGAAAATAGTGGTTCAGAACAATAGCTATGCGGGTGCAATTGCTAGCTCAGTCACTTGCCAGCTGGCGTAACCTTGGGTGAATCATTTCATTCCCCTGAGCTTGGTTTCCCACCCTGCCACATGACATTGATAGTAGAATCCACTCCTAGGGTTGTTGTGATAGTTTATCAAACTGATGCACATACAGCTGTCAGCACGGGGTCTGGCACGAGGTCAAGTGCTCAGGAGTGGGTGGTAGCAAATCGATGGATGTGAAGATACATAGATGAGGGATTGAGTCTGAGTAGGAGTCTTTTTGGGGGCTGTGTGGTGAGAGTGATACCCCCTCACTGCTGCCATCTGGCCCTTGTGATAGAATGCACGCTGTACTAGCATCTCCTGGGAGCTGAGGCAGACCCTGTCAGTTGTATTTGATGCCTTCATCACGGGGCAGGGAAAGAAAGGTAAGTTACCTTGGCAACTCATCTGTACCCACCCATGCCAGCCCTGCCTTATCTATGTGGACTAGGCCTAGGCCTGGCCCCTGCTCAGCCCTGCGCTCTGTTTCTCAGACTGGTCCCTCTTCCGGATGTTCTCCCGAACCCTCACGGAGCCCTGCCCCCTGGCTTCAGAGAGCCGAGTCTATGTGGACATCACCACCTACAACCAGGTAACAAGGTCTCCAGCCACACACACAAACACACCGCTGGTCCCCAGGACCAGCCTACCCTCTCTGCTTGCTTCTTAGCCCTGCCTTTGTGTCCCCAGGACAACGAGACATTAGAGGTGCACCCACCCCCGACCACTACATATCAGGACGTCATCCTAGGCACTCGGAAGACCTATGCCATCTATGACTTGCTTGACACCGCCATGATCAACAACTCTCGAAACCTCAACATCCAGCTCAAGTGGAAGAGACCCCCAGAGAATGGTGAGTGGGTGGTTGGTTGGACTGCTGGGTTGCAACGGCTACAGAGAAAAGACTCACAATCCCACGTCTTTGCCGTTAGATGATTGGGTTGTATTTAGACCAGATTTCCAGAGTCATATGCTGCTGACTGTAGCTATTCCAAGCTCTACGATTTTGGGTAGGTTCCTAAACTCCCCAAGCTTCAGCATCCACATCTGAAAAATAGAGTATACTTAGCAAATTGGATGAGATGATGTGAAAAATGGAGTTAGTTCATGCATTTGCTTAATCAACCAAATACTTTTGAATTCATACTAAGTGCCAGGCATAGAGTGTTGAATAAGACAGAGGACACTGCACTCAAGAAATATAAGTCTACTAGCTAGGGCAGGTGTCAGTTAATTAATTACAGTTGTGTTCAGTTCCCTTACCAAGGGAAAGAGCAGAATATCCTGAGAGGACCTGGATTGGGTTCGAAGGGGGCACGGTGTTCGTCACGTAAGCACTTCAATACTAGCAACCTATTGTCATCATCGCTTGTTGGCTGGGGAAGACAGGGATGATTCCAGAACCCAGATTGCCCAGTTTCAGTGGCAGGGCTGTTCCCCATCTACTCACTGGCTTGGGACTCTGAACATGGCCTGGGCAGGTGGGGTGGGGAGTGATTCTTACCTTTGGCAGCTGTTAACTGTTGATATTTCTTTACACAGAGGCCCCCCCCAGTGCCCTTCCTGCATGCCCAGCGGTACGTGAGTGGCTATGGGCTGCAGAAGGGGGAGCTGAGCACACTGCTGTACAACACCCACCCATACCGGGCCTTCCCGGTGCTGCTGCTGGACACCGTACCCTGGTATCTGCGGCTGTATGTGCACACCCTCACCATCACCTCCAAGGGCAAGGAGAACAAACCAAGTGAGGACCTGAGTCCTGAACCAGGCCCCCAGCCCGCCCTCTCATGTCCTCTCCAGGTCCCCCAAACTCTCATTTCCCAGGGTAGTTCCTGAAGTACCTCTGAAAAGCTACACAGGCATAAAGAGTAAGGAATAGTTTCTCAAAACTGGAACGGGAGCCTCACTGTGCCAGGTTCAGAAGTAATTTATAAAACAGCAATAATTAAAACACATAATACTGGTGATTCTTAATAGGACTGTACAAGGACAGTAGCTTCCTTTTTCACTTACTTTTGCCTCCTTTCTGGAGCATTGGGTTTTGTGATGATTCATAGACTCTTTAAGGTAGGGAAAGGGTTTGGCAACGTTAGGCTTTTGAAGCTAGGAAGATAGCAGAGCTGGAGTAGATGGTGTTTTGCTTCCTTGGGAGGGGTAAAGAGGTACAGTTAATTAAATTTTTTTATTTCTATTTTTATTAAAATTTATTTTTATTTTCTATTATTTTTCTAAGGAGAAGATAATATTAGTGCTTCCTATTAGGTGCCAGGCATAGCACTAAAGCACTTGCCTTTCTTTGGTGTAGGGGGAGACTAGTAGTAAAGTAAAAGACCTCTGAGGAAGAGGTTGTACCATATCCCAAACGGCCAAACTTAAAAACCTTTCAGTACTTTAGTTGATTCCTATATTTTCAAACATACGGTGAATAGTTTCACTTATTTTCAGCACCATTATTTGTACCACCTTCAAAATCTCTATTTCAGACATCCTAACTGCATATTCTATAGGTTTTTCTGTTATTATTCTTTTAAATCTTCTCCTTTGGAAAATTTCAAACCCAAACCCAAACAGAATAGTGTAATAATCCCCTGTACACACCCTGCAGCCTTTTTTTTTTTTTTTTAAGAGACAGACTGTTGCTCTGTCAGCTATGCCGGAGTGCAGTGGCATGATCATGGCTCATTGCAGTCTCAGACTGCTCGGCTCAAGCAATCCTCCTACCTCCGCTTCCCTAGGACTACAGGCATGAACCGCCATGCCTTTAATTTTTTCACAGAGGCAGGGTCTTGTTATGTTGCACAGGCTGGTCTCAAACTCCTGGCCTCAAGCGATTCTCCTGCCTCAGTCTCCTAAAGTGCTGGGATTATAGGTGTAAGCCGCTGCCTGCTGGCATATCTTAAAGCAAATCTTAGACATTGCATCAATTAACCTTTAAATACTTTAAGGATTTTTAAAAATGTAACCGTATCATTACCACTTCTGTTTTCCCCTGTGGTCTTAAAAATGTCTTTTTATAATTGGTTTGTTTAAATTGGGATAAACAAGGTTCTCACATTGCATTTGCTTTATACTAAGTTCCTCTCTTGGGTGGGCACAGTGGTGCACACCTGTAATCTCAGCACTTTGGGAGGCCAACACAGAAGGACCACTTGAGTCCAGGAGTTCGAAACCAGCCTGGACAACATTGTGAGGCTCCCCCTACCTATACAAAAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGATCCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCCACCTCCCGAGTAGCTGGGACTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTTCTGTTTTTAGTAGAGATGCGGTTTCACTGTGTTAGCCAGGGTGGTCTCGATCTTCTGACCTTGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTAAAATAAATTGTTTTTAATTAGCTGGGGGTGGTGTTGCACGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATCACTTGAACCCAG
|
pathogenic
| 314,019 |
The chromosome 20, position 45891598 genetic variant in gene CTSA (cathepsin A): benign or pathogenic? If pathogenic, indicate disease(s).
|
benign
|
ACTTTGTTGCCCAGGCTTGAGCTAGCTAGCTTGCTTGCTTGCTTGCTTTCTCTCTCTTCCTCTCTCTCTCTCTTTCTTTTTTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGAGCTGGACAAGGCGCACGCTCTTTGTGGAAGCAAACACGTCCACCACCGCGTAGAGGGGCTGCGCAGCTGGCAGTCCCCGGGCGCTCGGGCCCATGTCCTCGCCGTTGATGATGATGTGCATGTCGGCCGTGCCATCGGGGCGCGGGCAAAAGAGGACACCCAGGCGGCTACGGCGCGCGGTCGGAGGCAGCACGTTCAGCTCATAGAGCTGGTCCAAGAGATGGCTGTAGAGCCCTGGCCGGCTGCGGCCCACCAGGCGGTCCCGGGGAATGCGAAACTGCTCAATGCGCAGATATGGTTCCACGAGGAGGGTTGGAGGTCGGCTGGGGGCCGCTGCCTCCGCCTCCGGGCGGCCCTCCCGGGGCACGCGGTTGTGGTGGCGCGTGATGGCGAAGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGC
|
ACTTTGTTGCCCAGGCTTGAGCTAGCTAGCTTGCTTGCTTGCTTGCTTTCTCTCTCTTCCTCTCTCTCTCTCTTTCTTTTTTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGAGCTGGACAAGGCGCACGCTCTTTGTGGAAGCAAACACGTCCACCACCGCGTAGAGGGGCTGCGCAGCTGGCAGTCCCCGGGCGCTCGGGCCCATGTCCTCGCCGTTGATGATGATGTGCATGTCGGCCGTGCCATCGGGGCGCGGGCAAAAGAGGACACCCAGGCGGCTACGGCGCGCGGTCGGAGGCAGCACGTTCAGCTCATAGAGCTGGTCCAAGAGATGGCTGTAGAGCCCTGGCCGGCTGCGGCCCACCAGGCGGTCCCGGGGAATGCGAAACTGCTCAATGCGCAGATATGGTTCCACGAGGAGGGTTGGAGGTCGGCTGGGGGCCGCTGCCTCCGCCTCCGGGCGGCCCTCCCGGGGCACGCGGTTGTGGTGGCGCGTGATGGCGAAGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACC
|
benign
| 314,039 |
Gene CTSA (cathepsin A) variant at chromosome position 45891598 on chromosome 20: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
benign
|
ACTTTGTTGCCCAGGCTTGAGCTAGCTAGCTTGCTTGCTTGCTTGCTTTCTCTCTCTTCCTCTCTCTCTCTCTTTCTTTTTTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGAGCTGGACAAGGCGCACGCTCTTTGTGGAAGCAAACACGTCCACCACCGCGTAGAGGGGCTGCGCAGCTGGCAGTCCCCGGGCGCTCGGGCCCATGTCCTCGCCGTTGATGATGATGTGCATGTCGGCCGTGCCATCGGGGCGCGGGCAAAAGAGGACACCCAGGCGGCTACGGCGCGCGGTCGGAGGCAGCACGTTCAGCTCATAGAGCTGGTCCAAGAGATGGCTGTAGAGCCCTGGCCGGCTGCGGCCCACCAGGCGGTCCCGGGGAATGCGAAACTGCTCAATGCGCAGATATGGTTCCACGAGGAGGGTTGGAGGTCGGCTGGGGGCCGCTGCCTCCGCCTCCGGGCGGCCCTCCCGGGGCACGCGGTTGTGGTGGCGCGTGATGGCGAAGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGC
|
ACTTTGTTGCCCAGGCTTGAGCTAGCTAGCTTGCTTGCTTGCTTGCTTTCTCTCTCTTCCTCTCTCTCTCTCTTTCTTTTTTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGAGCTGGACAAGGCGCACGCTCTTTGTGGAAGCAAACACGTCCACCACCGCGTAGAGGGGCTGCGCAGCTGGCAGTCCCCGGGCGCTCGGGCCCATGTCCTCGCCGTTGATGATGATGTGCATGTCGGCCGTGCCATCGGGGCGCGGGCAAAAGAGGACACCCAGGCGGCTACGGCGCGCGGTCGGAGGCAGCACGTTCAGCTCATAGAGCTGGTCCAAGAGATGGCTGTAGAGCCCTGGCCGGCTGCGGCCCACCAGGCGGTCCCGGGGAATGCGAAACTGCTCAATGCGCAGATATGGTTCCACGAGGAGGGTTGGAGGTCGGCTGGGGGCCGCTGCCTCCGCCTCCGGGCGGCCCTCCCGGGGCACGCGGTTGTGGTGGCGCGTGATGGCGAAGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCNNN
|
benign
| 314,040 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 45891598, gene CTSA (cathepsin A). What disease(s) is it linked to if pathogenic?
|
benign
|
ACTTTGTTGCCCAGGCTTGAGCTAGCTAGCTTGCTTGCTTGCTTGCTTTCTCTCTCTTCCTCTCTCTCTCTCTTTCTTTTTTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGAGCTGGACAAGGCGCACGCTCTTTGTGGAAGCAAACACGTCCACCACCGCGTAGAGGGGCTGCGCAGCTGGCAGTCCCCGGGCGCTCGGGCCCATGTCCTCGCCGTTGATGATGATGTGCATGTCGGCCGTGCCATCGGGGCGCGGGCAAAAGAGGACACCCAGGCGGCTACGGCGCGCGGTCGGAGGCAGCACGTTCAGCTCATAGAGCTGGTCCAAGAGATGGCTGTAGAGCCCTGGCCGGCTGCGGCCCACCAGGCGGTCCCGGGGAATGCGAAACTGCTCAATGCGCAGATATGGTTCCACGAGGAGGGTTGGAGGTCGGCTGGGGGCCGCTGCCTCCGCCTCCGGGCGGCCCTCCCGGGGCACGCGGTTGTGGTGGCGCGTGATGGCGAAGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGC
|
ACTTTGTTGCCCAGGCTTGAGCTAGCTAGCTTGCTTGCTTGCTTGCTTTCTCTCTCTTCCTCTCTCTCTCTCTTTCTTTTTTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGAGCTGGACAAGGCGCACGCTCTTTGTGGAAGCAAACACGTCCACCACCGCGTAGAGGGGCTGCGCAGCTGGCAGTCCCCGGGCGCTCGGGCCCATGTCCTCGCCGTTGATGATGATGTGCATGTCGGCCGTGCCATCGGGGCGCGGGCAAAAGAGGACACCCAGGCGGCTACGGCGCGCGGTCGGAGGCAGCACGTTCAGCTCATAGAGCTGGTCCAAGAGATGGCTGTAGAGCCCTGGCCGGCTGCGGCCCACCAGGCGGTCCCGGGGAATGCGAAACTGCTCAATGCGCAGATATGGTTCCACGAGGAGGGTTGGAGGTCGGCTGGGGGCCGCTGCCTCCGCCTCCGGGCGGCCCTCCCGGGGCACGCGGTTGTGGTGGCGCGTGATGGCGAAGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCNNNNNN
|
benign
| 314,041 |
Considering the genetic mutation at chromosome 20, position 45891678, impacting CTSA (cathepsin A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase']
|
TTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGAGCTGGACAAGGCGCACGCTCTTTGTGGAAGCAAACACGTCCACCACCGCGTAGAGGGGCTGCGCAGCTGGCAGTCCCCGGGCGCTCGGGCCCATGTCCTCGCCGTTGATGATGATGTGCATGTCGGCCGTGCCATCGGGGCGCGGGCAAAAGAGGACACCCAGGCGGCTACGGCGCGCGGTCGGAGGCAGCACGTTCAGCTCATAGAGCTGGTCCAAGAGATGGCTGTAGAGCCCTGGCCGGCTGCGGCCCACCAGGCGGTCCCGGGGAATGCGAAACTGCTCAATGCGCAGATATGGTTCCACGAGGAGGGTTGGAGGTCGGCTGGGGGCCGCTGCCTCCGCCTCCGGGCGGCCCTCCCGGGGCACGCGGTTGTGGTGGCGCGTGATGGCGAAGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATC
|
TTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAAAGAGGCCCCTAATATCTAAAATTGGTTTAGAATCCCTGCCCTAGGTGAATACAGGAAACACTATCAAAACTAAAAGGGAACTTGTAGGGCATCTTAATCAATCAACCAAGATAGGTACCAAGGCCCAAAACCATGTAGAGGCTTGTGCAAGATCACAAGCAGAGGTGCAATTTGAAGCTAGATTCTCCCACTCTTAAACTAGTGCCGGACAGACGAAGGCCTAGCACATGGGCTACGGAGCCCTAGTAGATTCCAGTCCCCACACTGAGCCAGGAGGGGTCGCTGCCCAGGGATACCTACAGCCATACTCGAGCTGGACAAGGCGCACGCTCTTTGTGGAAGCAAACACGTCCACCACCGCGTAGAGGGGCTGCGCAGCTGGCAGTCCCCGGGCGCTCGGGCCCATGTCCTCGCCGTTGATGATGATGTGCATGTCGGCCGTGCCATCGGGGCGCGGGCAAAAGAGGACACCCAGGCGGCTACGGCGCGCGGTCGGAGGCAGCACGTTCAGCTCATAGAGCTGGTCCAAGAGATGGCTGTAGAGCCCTGGCCGGCTGCGGCCCACCAGGCGGTCCCGGGGAATGCGAAACTGCTCAATGCGCAGATATGGTTCCACGAGGAGGGTTGGAGGTCGGCTGGGGGCCGCTGCCTCCGCCTCCGGGCGGCCCTCCCGGGGCACGCGGTTGTGGTGGCGCGTGATGGCGAAGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCN
|
pathogenic
| 314,044 |
Does the genetic variant at chromosome 20, position 45892703, impacting gene CTSA (cathepsin A), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase']
|
AGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCT
|
AGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 314,050 |
Does the variant on chromosome 20 at location 45892776 affecting gene CTSA (cathepsin A) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase']
|
CAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGG
|
CAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGN
|
pathogenic
| 314,052 |
A genetic variant on chromosome 20, position 45892794, affects the gene CTSA (cathepsin A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase', 'Galactosialidosis,_late_infantile']
|
ACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTT
|
ACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGCGACCTTGTAAGGCATTTCCCCCCTGACTCCCTTCCCCGAGCCTCTGCCCGGGGGTCCTAGCGCCGCTTTCTCAGCCATCCCGCCTACAACTTAGCCGTCCACAACAGGATCATCTGATCGCGTGCGCCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTNN
|
pathogenic
| 314,053 |
Clinical classification of chromosome 20, position 45893240, gene CTSA (cathepsin A): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase']
|
CCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAG
|
CCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGGGCTGCTGCACGGAAGCGCTGAGGAGCGAGTCAACAGCCCCTCTGCTGCCTCCCGTAGATGATCCGAGCCGCGCCGCCGCCGCTGTTCCTGCTGCTGCTGCTGCTGCTGCTGCTAGTGTCCTGGGCGTCCCGAGGCGAGGCAGCCCCCGACCAGGACGAGATCCAGCGCCTCCCCGGGCTGGCCAAGCAGCCGTCTTTCCGCCAGTACTCCGGCTACCTCAAAGGCTCCGGCTCCAAGCACCTCCACTACTGGTCTGCCGCCCTGCCTTCTGGGCGGGATTGGGAGAAGAGATGACGGATGAGGGATGGGGGGTAGTTCTGCAGACCCCTGAGGATGCCTGGGAGCCGGGAGGGCTGGAAAGGGCCCCTCCAACTGCGCCAACCCTGCCCTGACCCCCCTCCCAGGTTTGTGGAGTCCCAGAAGGATCCCGAGAACAGCCCTGTGGTGCTTTGGCTCAATGGGGGTCCCGGCTGCAGCTCACTAGATGGGCTCCTCACAGAGCATGGCCCCTTCCTGGTGAGTGGACAGCAGGGGGAAAGCACAGTTCCCAAAGTAAAAGGCTGGGGAAAGCGAGAGAGGGGCTTTGTGATTTTCCAAAAAGTTTCCTTCCTTCTAAGCCTCGGGATTTTCCTCTATGCCATTGGCTTTGCTGCCTGTACCTCTCAGAGGTTTTACCCACATGTAAAGTGCCTCTCATGGTGGCCCTTTCCCTCCACCCAGCTGGCCCTTGGGACTTACTCAGCCATCTCTTTCCTCCTCAGGTCCAGCCAGATGGTGTCACCCTGGAGTACAACCCCTATTCTTGGAATCTGGTATAGCTGGAGCTGTGGGTGTGTCTGGGCACTTGGATGGGGTGGCATTTAGCTAATTTTTCCCTCCCCTCTAGATTGCCAATGTGTTATACCTGGAGTCCCCAGCTGGGGTGGGCTTCTCCTACTCCGATGACAAGTTTTATGCAACTAATGACACTGAGGTGAGTCTGGTGCCTGCCCATCTGCCCCAGGCTCCCCGGTCCTCCATCCATGGCATGATGCTGGGAGAGAGAGCATGGCCTTGGAGTCTACTTTTCGCTCTGTCATATGCTATTGTGGTATGGTGGCCAGTCACTTCCTCTTGCACAAATAGGGTGGGTTAATGTCATTATCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGNN
|
pathogenic
| 314,056 |
The chromosome 20, position 45894703 genetic variant in gene CTSA (cathepsin A): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase']
|
TCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTC
|
TCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCNN
|
pathogenic
| 314,066 |
The chromosome 20, position 45894803 genetic variant in gene CTSA (cathepsin A): benign or pathogenic? If pathogenic, indicate disease(s).
|
benign
|
GATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAA
|
GATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAAN
|
benign
| 314,068 |
The mutation impacting CTSA (cathepsin A) on chromosome 20 at position 45895028: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase']
|
TTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAACCCAGCTGTCTGCCTTCTGGGTTGGAGCTTGGAGATAGGAGAGAAGGTCTGATCTGTTGACTACTTTTCGCCCCGACCTGGTCTTCCTGGGGCCTGCTCGTATGTTCCCGGCAGCTTTCTGGTAAACTTACAGTACCGCCGTCTCTACCGAAGCATGAACTCCCAGTATCTGAAGCTGCTTAGCTCACAGGTGAGTGGGGAGAGCACAGCTGGATCACCAGCAGC
|
TTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAACCCAGCTGTCTGCCTTCTGGGTTGGAGCTTGGAGATAGGAGAGAAGGTCTGATCTGTTGACTACTTTTCGCCCCGACCTGGTCTTCCTGGGGCCTGCTCGTATGTTCCCGGCAGCTTTCTGGTAAACTTACAGTACCGCCGTCTCTACCGAAGCATGAACTCCCAGTATCTGAAGCTGCTTAGCTCACAGGTGAGTGGGGAGAGCACAGCTGGATCACCAGCAG
|
pathogenic
| 314,073 |
A genetic variant on chromosome 20, position 45895049, affects the gene CTSA (cathepsin A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase']
|
ACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAACCCAGCTGTCTGCCTTCTGGGTTGGAGCTTGGAGATAGGAGAGAAGGTCTGATCTGTTGACTACTTTTCGCCCCGACCTGGTCTTCCTGGGGCCTGCTCGTATGTTCCCGGCAGCTTTCTGGTAAACTTACAGTACCGCCGTCTCTACCGAAGCATGAACTCCCAGTATCTGAAGCTGCTTAGCTCACAGGTGAGTGGGGAGAGCACAGCTGGATCACCAGCAGCCTTAGGACCCCAGAGTAGCAC
|
ACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAACCCAGCTGTCTGCCTTCTGGGTTGGAGCTTGGAGATAGGAGAGAAGGTCTGATCTGTTGACTACTTTTCGCCCCGACCTGGTCTTCCTGGGGCCTGCTCGTATGTTCCCGGCAGCTTTCTGGTAAACTTACAGTACCGCCGTCTCTACCGAAGCATGAACTCCCAGTATCTGAAGCTGCTTAGCTCACAGGTGAGTGGGGAGAGCACAGCTGGATCACCAGCAGCCTTAGGACCCCAGAGTAGCACN
|
pathogenic
| 314,074 |
The mutation in gene CTSA (cathepsin A) at chromosome 20, position 45895063—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase']
|
GTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAACCCAGCTGTCTGCCTTCTGGGTTGGAGCTTGGAGATAGGAGAGAAGGTCTGATCTGTTGACTACTTTTCGCCCCGACCTGGTCTTCCTGGGGCCTGCTCGTATGTTCCCGGCAGCTTTCTGGTAAACTTACAGTACCGCCGTCTCTACCGAAGCATGAACTCCCAGTATCTGAAGCTGCTTAGCTCACAGGTGAGTGGGGAGAGCACAGCTGGATCACCAGCAGCCTTAGGACCCCAGAGTAGCACAGCAAGCTGGGGGC
|
GTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCAATCTCTGGGGTGAGGCAGGTCACATGATCTCAGGTCTGTCCTCCAGGCACATGATATGACAGGCCCAGCCCAGGTTTATGAGCAGCAGGTGGGTTGCAGAAAGAACCTAGTGCTGAAAGGCCAAAGAATAGAGATCAGTTTTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGATTCTTACTTTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCATGCCTCAGACTCCCAGGCAGCTGGGACTACAGGCGCGTACCACCACACCTGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCTGTGTTGGCCAGGCTGGACTTGAACTCCTGGCCTCAAATGATCTTCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCGCCCAGCCAGAAATCAGATTTTAAAGGAACTAAGGAGGCCTGTCTGTATGACCCTGGGGCACCTCTTTGGGAGCTAGCTTAGATGACATACAGACCACACCCTGTGATATCTTTCCCAGTCTCCTAGGGTCAGGGAGGTTGGTGGGAGGTGGGGGGTATGCTCGCCTCCTCTGCCTTCCTCTTCCCACCAGCAGCTGATGCGCTTTTCACTCTCATCTCCTACAGGCTTTGGTCTTCTCTCCAGACCCACTGCTGCTCTCAAAACAAGTGTAACTTCTATGACAACAAAGACCTGGAATGCGTGACCAATGTGAGGTTCTGCCATCACTTTGCATGAGCTCTCCCATCCCTAATCCTGAGAACAGGACCACATTCCCTCCTTGGGGACTCCTTGTTCTCCGTCCCTCATTGCTTTCTTGCACCTTTAAGCAATTTAGTGTTCTCTGGGACATGTGTCTAAGTGTGTATTCCCACCACCACCTCCTATGGTGGCAAATCCCATAACCTCCGTGAGGAGAAAGGACTTCTTCACATTTATCAAACACCTGCAACGTGGCAGGCACTGTGCTGAACTGTGTCTATGTAGATTATTTAAGCTTCAAGATTCCCCCTCAAATGAGATCATACTACCCACATTTTCCAGATAAGGAAACTGAGGGCTATGAATTTTGAAATCACTGTCTGAAGTCACAGTGTTGGGAGGCAGTGATGCTAGGATTTGGACCCAGGTCTGGGAAGATTCCTGCCACTGAGCCTCAGTTTCCCTACCTGTGAAAAAAAGTGGGTGAAGAGGTGAAATCCAAGAGCAGTAAATCTTGGGACAACTTGGTGGGGTCGTGGAGAGGCTGGGGATCTGTAAAGCATGGTGGCTTGGTGTATCATTGCAGCTTCAGGAAGTGGCCCGCATCGTGGGCAACTCTGGCCTCAACATCTACAATCTCTATGCCCCGTGTGCTGGAGGGGTGCCCAGCCATTTTAGGTAGGTGCTGCTGGGTGCCCCTGGAGCCAACCCCAGCCCCATCTGGAGGCTCCACACCCATTCCCCCACCTCACATTGCAGGTATGAGAAGGACACTGTTGTGGTCCAGGATTTGGGCAACATCTTCACTCGCCTGCCACTCAAGCGGATGTGGCATCAGGTGTGCGAGGGCGTGGGCTTCCTCCTGGTGAGGTGGGGGCAGGGGGAGGGGCAGGGAAGCAGAGGCCCTGACCCACTGTCTGTGCCTTCCAGGCACTGCTGCGCTCAGGGGATAAAGTGCGCATGGACCCCCCCTGCACCAACACAACAGCTGCTTCCACCTAACCTCAACAACCCGTACGTGCGGAAGGCCCTCAACATCCCGGAGCAGCTGCCACAATGGGACATGTGCAAGTGAGGTTCCGTGGCCACCTGTGACTTGGGGTGGTGGGTTGCTGGGGCTTGTGGGCATCGGCAGGTTTCTCAGGGATCTTCTGTGTAGAGTTTCTCAATGAGATGAGCTGTAGAGGATGTTTAACATCCATCCCTGACCCCTCAGTGGATTGAGAGTCAGCCAATTCATTCTTTTATCTTTTTTAAATTTAAAATTTTTTTGTTTGAGACAAGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCATAGCTCACTGCAGCCTCAAACTCATGGGCTCAAGCAATCCTCCCACCTCCCCAGTAGCTGGGACTACAGACGCACCACCACCCCCAACAAGTTTTTGTATTTTTTGTACAGATGGTGTTTTACCACATTGCTCAGGCTGGTTTTGAACTCTGGGGCTCAAGTGATCTGCCCATTTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCCCGCCCAGCCCCATTTCATTACGTAGCCACATTGGTTGTTGTTTCACAGTTCACTACAGCCTCAACCTCCTAGGCTCAAGCGATCCTCCCACCTTAGTCTACTGAGTAGCTGGGTCTACAGGCACATGCCACCATTCCTGGCTAATTTTTAAAAAATTTTTTTGTAGAGACAGGGTCTCACTATGTTGTCCAGGTTGGTCTCAAACTCTTGGTCTCAAGCAATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGAGGGTCCCCACACCCGGCCATCACATTGGTTAATAACTATTACTTCCGACTGGGCGCAGTGGTTCACGCCTGTAATCCTAGCACTTTTGGAGGCTGAGGTGGGGGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGAAGAAACCCCATCTCTACTAAAAATACAACAATTAGCCAGGTGTGCTGTTGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGGAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCTACTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCCATCTCAAACAACAATAACAAACTGTTAACTTCCATGTCCAGTCTCCTGTGGCCACCCCCCCCCACAACCCCAAGTAAAAGGGTAACACTGGGCCCAGCAGGGCTGCTCAGGTCCATTTTGATTGGTCAGTGCTCACACTCTACCCTGTTGTATGTTGTGACTCCCACACCTGCTGGCCCCTAGACACTAAATGCCAGATGCATCCCAGTCCTCGTAACAACCAAAATGCGTCCCTTGTACATTTCTTTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTGTCACTCAGGCTGGAGTGCAGTGCTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACTCACCTCGGTCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCAGCATCCCTGTACCTTTCTAAATGGTGGTGAGTTGAGGCTGTCTGAATCCCAGCCCATCCAGCCCAACATCCAAGTCAGTCCTAGAGAGGTGGCCCCCCCCCAAAAAGGGGAGTGGAACCCAGCTGTCTGCCTTCTGGGTTGGAGCTTGGAGATAGGAGAGAAGGTCTGATCTGTTGACTACTTTTCGCCCCGACCTGGTCTTCCTGGGGCCTGCTCGTATGTTCCCGGCAGCTTTCTGGTAAACTTACAGTACCGCCGTCTCTACCGAAGCATGAACTCCCAGTATCTGAAGCTGCTTAGCTCACAGGTGAGTGGGGAGAGCACAGCTGGATCACCAGCAGCCTTAGGACCCCAGAGTAGCACAGCAAGCTGGGGG
|
pathogenic
| 314,075 |
Variant in SLC2A10 (solute carrier family 2 member 10), chromosome 20, position 46725514—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Arterial_tortuosity_syndrome', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection']
|
ATTGATTGGGCCACATTCACCTCATTTAGCATCTCCATACAACAGCAAGAGCAATATTTTAAAAATTAAAAATAGATGACCGATTTGTTTCCTGTTGGGACTCATAAAAAATGAAAAATAAAAGTAGATCACCTCATTCCTGGCTGAAGCCAGCAAAGGCTTCCAACCACTGAGAATGACATTCCTCATTGTCCTCTTGACTTGCAAAGCCCCACATGATCTGGCCCCTGCCTATTTCTCCTGCCTCATCATCTCCCATCACTCTCACTCACTGGGCTTCAGCCTCTGGCCTCCTGTCTGATTACCTCAGTGATTAAAGGTCCTCACTTTAGCCACATCATCTCTACAACTTACTTGTTATGTGACCATGAGAAAGTTTCTTAACTTCTCTGCACTTTGGAGGATGATATGTTATAGGGTAGCTGTAACAATTAAATGAGAAAATACATATAAAGCTCTTAAAACAGATTCTGGCATTTAGTAAGGGCCATATAAGTACTAACCATTAATATCCATAGTTGTTCAAACACCAAGAACTGTCCTACCTCAGGGCCTCTGTACTTTGTGTTCACTCTGTCTAGGATGTTCTTCTCCCAGATTTTCCTGGGACTTTCATGTCACTCAAATCTCTGCTCAAATTTTTGCTCTTCAGAGAGGCCTTAAAATAGTACTACTCCATCAACCTTAATTCTCCTTCCCTGCTTCATTTTTTATGACATCTTCACTATCTGAAATTATATACTTATTTATCATCTTCCTATTTCTTCTAGAACTTTAGATCCTGGACAACACATCTGTATTCCAGCCCTAAGAGCACTTCCTGGCATGTTGTAAATGCCAGATAAATAAATTTAGATGGATGGATAGATGGATGGATGGATGGACTGATGTGTGGATGAGTATACAAAGGGATGAAATACAGAGATGGGTGGATGAATGGATGGATTTGTAGATAGACTGATCAACAAATTGATGGATGGTTGGGTGAATTAAGGTATAGATAAATGGACATGCAGATGGATGAATATTTGGATGGATGAAGTAGATGAATGGATGGAGGATGCATAGATGGATGGATGGGTGGTTGAATAGATGGAGTGGATGGAAGAATGGATGGATAGTTAAATGGATGATTGAACAGATGGTGTAGATGGATGGTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAGTGGATGGATAGATGGATAGATGGATCAGTGAATGGTTGAATGGGTGGTTGAACAGATGGAGTAGATGGATGGAGGATGAATGGATGGATGGTTGAATTGATGGAGTGGATGGATGGACAGATGGAAGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGAATTGATGGAGTGGATGGATGGACGGATGGATGGATGGATGGATGGATGGATGGTTTGAATGGATGGTTGAATAGATGGAGTAGATGGATGGATAAATGAAGGTGTTGACAGATGGAGGGAAGGTTGAATGGATGGATGGTATGACAAGGAACCATTCTAACTCTGTCCCTCTCACTTTTGTTTTTTAGGCCACTCCCCACCTGTCCTGCCTTTGTGTGCCTCTGTGTCTTTGCTGGGTGGCCTGACCTTTGGTTATGAACTGGCAGTCATATCAGGTGCCCTGCTGCCACTGCAGCTTGACTTTGGGCTAAGCTGCTTGGAGCAGGAGTTCCTGGTGGGCAGCCTGCTCCTGGGGGCTCTCCTCGCCTCCCTGGTTGGTGGCTTCCTCATTGACTGCTATGGCAGGAAGCAAGCCATCCTCGGGAGCAACTTGGTGCTGCTGGCAGGCAGCCTGACCCTGGGCCTGGCTGGTTCCCTGGCCTGGCTGGTCCTGGGCCGCGCTGTGGTTGGCTTCGCCATTTCCCTCTCCTCCATGGCTTGCTGTATCTACGTGTCAGAGCTGGTGGGGCCACGGCAGCGGGGAGTGCTGGTGTCCCTCTATGAGGCAGGCATCACCGTGGGCATCCTGCTCTCCTATGCCCTCAACTATGCACTGGCTGGTACCCCCTGGGGATGGAGGCACATGTTCGGCTGGGCCACTGCACCTGCTGTCCTGCAATCCCTCAGCCTCCTCTTCCTCCCTGCTGGTACAGATGAGACTGCAACACACAAGGACCTCATCCCACTCCAGGGAGGTGAGGCCCCCAAGCTGGGCCCGGGGAGGCCACGGTACTCCTTTCTGGACCTCTTCAGGGCACGCGATAACATGCGAGGCCGGACCACAGTGGGCCTGGGGCTGGTGCTCTTCCAGCAACTAACAGGGCAGCCCAACGTGCTGTGCTATGCCTCCACCATCTTCAGCTCCGTTGGTTTCCATGGGGGATCCTCAGCCGTGCTGGCCTCTGTGGGGCTTGGCGCAGTGAAGGTGGCAGCTACCCTGACCGCCATGGGGCTGGTGGACCGTGCAGGCCGCAGGGCTCTGTTGCTAGCTGGCTGTGCCCTCATGGCCCTGTCCGTCAGTGGCATAGGCCTCGTCAGCTTTGCCGTGCCCATGGACTCAGGCCCAAGCTGTCTGGCTGTGCCCAATGCCACCGGGCAGACAGGCCTCCCTGGAGACTCTGGCCTGCTGCAGGACTCCTCTCTACCTCCCATTCCAAGGACCAATGAGGACCAAAGGGAGCCAATCTTGTCCACTGCTAAGAAAACCAAGCCCCATCCCAGATCTGGAGACCCCTCAGCCCCTCCTCGGCTGGCCCTGAGCTCTGCCCTCCCTGGGCCCCCTCTGCCCGCTCGGGGGCATGCACTGCTGCGCTGGACCGCACTGCTGTGCCTGATGGTCTTTGTCAGTGCCTTCTCCTTTGGGTTTGGGCCAGGTAAGTGGAGTTTTCTTGCAGGTGACTCTGGAGACTTCTACCCCTCCTAGGGGGAAGTTTGGGGACTTCCCACCCTGATGACCTGGCAGGGTGTCAGTGGGGCACTAGAGGTGGGTTGACCATGAAGCCTCAGGGCCCCTCACTTACCTGCAGTTGCTCCTCCCAGGGCCAGTGCCTAATTTTATGTTTGTAATTTGTATTCCTTAAAAGCCTCCCCAAGTCATTTGAGCTTCAGGTCCCTTAAAGCCCGGATAGCTCACAACTGGAAGGAATTTAATGAATAGCGTGAAAACCAATCATCCCAGTTCGTCCAAGACTGTTCCCATCTCGGCATTGAAAGTCTCATGTCTCAGAAAACCTCTCAGTCTTCAGCAAACTGAGACTCTACTGTAATTCTTATAGCAGAATGGGAGTGGGAGTTTAGTATCAGGAGCCTGACACTAGAAAATCCCATTGTTGAGAGGCTGCATGTTTGACCTGATGGTGCCAGGCCCCAGGTCCCACCACAGCCCAGGAGCCCTCCTGCTCTCCCACCCTAGTGACCTGGCTTGTCCTCAGCGAGATCTACCCTGTGGAGATACGAGGAAGAGCCTTCGCCTTCTGCAACAGCTTCAACTGGGCGGCCAACCTCTTCATCAGCCTCTCCTTCCTCGATCTCATTGGTGAGTCCTTCCCAGACAAGTCCGTTTTTTTTCTGTGGCCCAAGCTCCCTACTCTAAAGCAGAAATTTTTGGATTTTCCTATGTATTAGCTGCAGAACTATTATTCTGTGCAGAAACATCATCAAATGTCCAAGACGACATCCAGGACCCTCATATGCACTGTAAAACTCCCCAGGCCAGCTAATGGGTGATGGTCTACACCCAGTACTGGTGAGAGGTCATCTGAGGTCAACCGGCAGGAGTAAGAGTAGCAATGTTTATTTGCTCCAAACTGGCTTAAACTGGTTCATGACACCTGCCAGGTGGAAGTTTTTCTTGGCTTTTCTTTTCTTTTTAATTTTTAATTTTTTTTGAGATGGAATCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAACTATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGAT
|
ATTGATTGGGCCACATTCACCTCATTTAGCATCTCCATACAACAGCAAGAGCAATATTTTAAAAATTAAAAATAGATGACCGATTTGTTTCCTGTTGGGACTCATAAAAAATGAAAAATAAAAGTAGATCACCTCATTCCTGGCTGAAGCCAGCAAAGGCTTCCAACCACTGAGAATGACATTCCTCATTGTCCTCTTGACTTGCAAAGCCCCACATGATCTGGCCCCTGCCTATTTCTCCTGCCTCATCATCTCCCATCACTCTCACTCACTGGGCTTCAGCCTCTGGCCTCCTGTCTGATTACCTCAGTGATTAAAGGTCCTCACTTTAGCCACATCATCTCTACAACTTACTTGTTATGTGACCATGAGAAAGTTTCTTAACTTCTCTGCACTTTGGAGGATGATATGTTATAGGGTAGCTGTAACAATTAAATGAGAAAATACATATAAAGCTCTTAAAACAGATTCTGGCATTTAGTAAGGGCCATATAAGTACTAACCATTAATATCCATAGTTGTTCAAACACCAAGAACTGTCCTACCTCAGGGCCTCTGTACTTTGTGTTCACTCTGTCTAGGATGTTCTTCTCCCAGATTTTCCTGGGACTTTCATGTCACTCAAATCTCTGCTCAAATTTTTGCTCTTCAGAGAGGCCTTAAAATAGTACTACTCCATCAACCTTAATTCTCCTTCCCTGCTTCATTTTTTATGACATCTTCACTATCTGAAATTATATACTTATTTATCATCTTCCTATTTCTTCTAGAACTTTAGATCCTGGACAACACATCTGTATTCCAGCCCTAAGAGCACTTCCTGGCATGTTGTAAATGCCAGATAAATAAATTTAGATGGATGGATAGATGGATGGATGGATGGACTGATGTGTGGATGAGTATACAAAGGGATGAAATACAGAGATGGGTGGATGAATGGATGGATTTGTAGATAGACTGATCAACAAATTGATGGATGGTTGGGTGAATTAAGGTATAGATAAATGGACATGCAGATGGATGAATATTTGGATGGATGAAGTAGATGAATGGATGGAGGATGCATAGATGGATGGATGGGTGGTTGAATAGATGGAGTGGATGGAAGAATGGATGGATAGTTAAATGGATGATTGAACAGATGGTGTAGATGGATGGTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAGTGGATGGATAGATGGATAGATGGATCAGTGAATGGTTGAATGGGTGGTTGAACAGATGGAGTAGATGGATGGAGGATGAATGGATGGATGGTTGAATTGATGGAGTGGATGGATGGACAGATGGAAGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGAATTGATGGAGTGGATGGATGGACGGATGGATGGATGGATGGATGGATGGATGGTTTGAATGGATGGTTGAATAGATGGAGTAGATGGATGGATAAATGAAGGTGTTGACAGATGGAGGGAAGGTTGAATGGATGGATGGTATGACAAGGAACCATTCTAACTCTGTCCCTCTCACTTTTGTTTTTTAGGCCACTCCCCACCTGTCCTGCCTTTGTGTGCCTCTGTGTCTTTGCTGGGTGGCCTGACCTTTGGTTATGAACTGGCAGTCATATCAGGTGCCCTGCTGCCACTGCAGCTTGACTTTGGGCTAAGCTGCTTGGAGCAGGAGTTCCTGGTGGGCAGCCTGCTCCTGGGGGCTCTCCTCGCCTCCCTGGTTGGTGGCTTCCTCATTGACTGCTATGGCAGGAAGCAAGCCATCCTCGGGAGCAACTTGGTGCTGCTGGCAGGCAGCCTGACCCTGGGCCTGGCTGGTTCCCTGGCCTGGCTGGTCCTGGGCCGCGCTGTGGTTGGCTTCGCCATTTCCCTCTCCTCCATGGCTTGCTGTATCTACGTGTCAGAGCTGGTGGGGCCACGGCAGCGGGGAGTGCTGGTGTCCCTCTATGAGGCAGGCATCACCGTGGGCATCCTGCTCTCCTATGCCCTCAACTATGCACTGGCTGGTACCCCTGGGGATGGAGGCACATGTTCGGCTGGGCCACTGCACCTGCTGTCCTGCAATCCCTCAGCCTCCTCTTCCTCCCTGCTGGTACAGATGAGACTGCAACACACAAGGACCTCATCCCACTCCAGGGAGGTGAGGCCCCCAAGCTGGGCCCGGGGAGGCCACGGTACTCCTTTCTGGACCTCTTCAGGGCACGCGATAACATGCGAGGCCGGACCACAGTGGGCCTGGGGCTGGTGCTCTTCCAGCAACTAACAGGGCAGCCCAACGTGCTGTGCTATGCCTCCACCATCTTCAGCTCCGTTGGTTTCCATGGGGGATCCTCAGCCGTGCTGGCCTCTGTGGGGCTTGGCGCAGTGAAGGTGGCAGCTACCCTGACCGCCATGGGGCTGGTGGACCGTGCAGGCCGCAGGGCTCTGTTGCTAGCTGGCTGTGCCCTCATGGCCCTGTCCGTCAGTGGCATAGGCCTCGTCAGCTTTGCCGTGCCCATGGACTCAGGCCCAAGCTGTCTGGCTGTGCCCAATGCCACCGGGCAGACAGGCCTCCCTGGAGACTCTGGCCTGCTGCAGGACTCCTCTCTACCTCCCATTCCAAGGACCAATGAGGACCAAAGGGAGCCAATCTTGTCCACTGCTAAGAAAACCAAGCCCCATCCCAGATCTGGAGACCCCTCAGCCCCTCCTCGGCTGGCCCTGAGCTCTGCCCTCCCTGGGCCCCCTCTGCCCGCTCGGGGGCATGCACTGCTGCGCTGGACCGCACTGCTGTGCCTGATGGTCTTTGTCAGTGCCTTCTCCTTTGGGTTTGGGCCAGGTAAGTGGAGTTTTCTTGCAGGTGACTCTGGAGACTTCTACCCCTCCTAGGGGGAAGTTTGGGGACTTCCCACCCTGATGACCTGGCAGGGTGTCAGTGGGGCACTAGAGGTGGGTTGACCATGAAGCCTCAGGGCCCCTCACTTACCTGCAGTTGCTCCTCCCAGGGCCAGTGCCTAATTTTATGTTTGTAATTTGTATTCCTTAAAAGCCTCCCCAAGTCATTTGAGCTTCAGGTCCCTTAAAGCCCGGATAGCTCACAACTGGAAGGAATTTAATGAATAGCGTGAAAACCAATCATCCCAGTTCGTCCAAGACTGTTCCCATCTCGGCATTGAAAGTCTCATGTCTCAGAAAACCTCTCAGTCTTCAGCAAACTGAGACTCTACTGTAATTCTTATAGCAGAATGGGAGTGGGAGTTTAGTATCAGGAGCCTGACACTAGAAAATCCCATTGTTGAGAGGCTGCATGTTTGACCTGATGGTGCCAGGCCCCAGGTCCCACCACAGCCCAGGAGCCCTCCTGCTCTCCCACCCTAGTGACCTGGCTTGTCCTCAGCGAGATCTACCCTGTGGAGATACGAGGAAGAGCCTTCGCCTTCTGCAACAGCTTCAACTGGGCGGCCAACCTCTTCATCAGCCTCTCCTTCCTCGATCTCATTGGTGAGTCCTTCCCAGACAAGTCCGTTTTTTTTCTGTGGCCCAAGCTCCCTACTCTAAAGCAGAAATTTTTGGATTTTCCTATGTATTAGCTGCAGAACTATTATTCTGTGCAGAAACATCATCAAATGTCCAAGACGACATCCAGGACCCTCATATGCACTGTAAAACTCCCCAGGCCAGCTAATGGGTGATGGTCTACACCCAGTACTGGTGAGAGGTCATCTGAGGTCAACCGGCAGGAGTAAGAGTAGCAATGTTTATTTGCTCCAAACTGGCTTAAACTGGTTCATGACACCTGCCAGGTGGAAGTTTTTCTTGGCTTTTCTTTTCTTTTTAATTTTTAATTTTTTTTGAGATGGAATCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAACTATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATN
|
pathogenic
| 314,343 |
Is chromosome 20, position 46725763, gene SLC2A10 (solute carrier family 2 member 10) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Arterial_tortuosity_syndrome', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection']
|
CATCTCCCATCACTCTCACTCACTGGGCTTCAGCCTCTGGCCTCCTGTCTGATTACCTCAGTGATTAAAGGTCCTCACTTTAGCCACATCATCTCTACAACTTACTTGTTATGTGACCATGAGAAAGTTTCTTAACTTCTCTGCACTTTGGAGGATGATATGTTATAGGGTAGCTGTAACAATTAAATGAGAAAATACATATAAAGCTCTTAAAACAGATTCTGGCATTTAGTAAGGGCCATATAAGTACTAACCATTAATATCCATAGTTGTTCAAACACCAAGAACTGTCCTACCTCAGGGCCTCTGTACTTTGTGTTCACTCTGTCTAGGATGTTCTTCTCCCAGATTTTCCTGGGACTTTCATGTCACTCAAATCTCTGCTCAAATTTTTGCTCTTCAGAGAGGCCTTAAAATAGTACTACTCCATCAACCTTAATTCTCCTTCCCTGCTTCATTTTTTATGACATCTTCACTATCTGAAATTATATACTTATTTATCATCTTCCTATTTCTTCTAGAACTTTAGATCCTGGACAACACATCTGTATTCCAGCCCTAAGAGCACTTCCTGGCATGTTGTAAATGCCAGATAAATAAATTTAGATGGATGGATAGATGGATGGATGGATGGACTGATGTGTGGATGAGTATACAAAGGGATGAAATACAGAGATGGGTGGATGAATGGATGGATTTGTAGATAGACTGATCAACAAATTGATGGATGGTTGGGTGAATTAAGGTATAGATAAATGGACATGCAGATGGATGAATATTTGGATGGATGAAGTAGATGAATGGATGGAGGATGCATAGATGGATGGATGGGTGGTTGAATAGATGGAGTGGATGGAAGAATGGATGGATAGTTAAATGGATGATTGAACAGATGGTGTAGATGGATGGTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAGTGGATGGATAGATGGATAGATGGATCAGTGAATGGTTGAATGGGTGGTTGAACAGATGGAGTAGATGGATGGAGGATGAATGGATGGATGGTTGAATTGATGGAGTGGATGGATGGACAGATGGAAGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGAATTGATGGAGTGGATGGATGGACGGATGGATGGATGGATGGATGGATGGATGGTTTGAATGGATGGTTGAATAGATGGAGTAGATGGATGGATAAATGAAGGTGTTGACAGATGGAGGGAAGGTTGAATGGATGGATGGTATGACAAGGAACCATTCTAACTCTGTCCCTCTCACTTTTGTTTTTTAGGCCACTCCCCACCTGTCCTGCCTTTGTGTGCCTCTGTGTCTTTGCTGGGTGGCCTGACCTTTGGTTATGAACTGGCAGTCATATCAGGTGCCCTGCTGCCACTGCAGCTTGACTTTGGGCTAAGCTGCTTGGAGCAGGAGTTCCTGGTGGGCAGCCTGCTCCTGGGGGCTCTCCTCGCCTCCCTGGTTGGTGGCTTCCTCATTGACTGCTATGGCAGGAAGCAAGCCATCCTCGGGAGCAACTTGGTGCTGCTGGCAGGCAGCCTGACCCTGGGCCTGGCTGGTTCCCTGGCCTGGCTGGTCCTGGGCCGCGCTGTGGTTGGCTTCGCCATTTCCCTCTCCTCCATGGCTTGCTGTATCTACGTGTCAGAGCTGGTGGGGCCACGGCAGCGGGGAGTGCTGGTGTCCCTCTATGAGGCAGGCATCACCGTGGGCATCCTGCTCTCCTATGCCCTCAACTATGCACTGGCTGGTACCCCCTGGGGATGGAGGCACATGTTCGGCTGGGCCACTGCACCTGCTGTCCTGCAATCCCTCAGCCTCCTCTTCCTCCCTGCTGGTACAGATGAGACTGCAACACACAAGGACCTCATCCCACTCCAGGGAGGTGAGGCCCCCAAGCTGGGCCCGGGGAGGCCACGGTACTCCTTTCTGGACCTCTTCAGGGCACGCGATAACATGCGAGGCCGGACCACAGTGGGCCTGGGGCTGGTGCTCTTCCAGCAACTAACAGGGCAGCCCAACGTGCTGTGCTATGCCTCCACCATCTTCAGCTCCGTTGGTTTCCATGGGGGATCCTCAGCCGTGCTGGCCTCTGTGGGGCTTGGCGCAGTGAAGGTGGCAGCTACCCTGACCGCCATGGGGCTGGTGGACCGTGCAGGCCGCAGGGCTCTGTTGCTAGCTGGCTGTGCCCTCATGGCCCTGTCCGTCAGTGGCATAGGCCTCGTCAGCTTTGCCGTGCCCATGGACTCAGGCCCAAGCTGTCTGGCTGTGCCCAATGCCACCGGGCAGACAGGCCTCCCTGGAGACTCTGGCCTGCTGCAGGACTCCTCTCTACCTCCCATTCCAAGGACCAATGAGGACCAAAGGGAGCCAATCTTGTCCACTGCTAAGAAAACCAAGCCCCATCCCAGATCTGGAGACCCCTCAGCCCCTCCTCGGCTGGCCCTGAGCTCTGCCCTCCCTGGGCCCCCTCTGCCCGCTCGGGGGCATGCACTGCTGCGCTGGACCGCACTGCTGTGCCTGATGGTCTTTGTCAGTGCCTTCTCCTTTGGGTTTGGGCCAGGTAAGTGGAGTTTTCTTGCAGGTGACTCTGGAGACTTCTACCCCTCCTAGGGGGAAGTTTGGGGACTTCCCACCCTGATGACCTGGCAGGGTGTCAGTGGGGCACTAGAGGTGGGTTGACCATGAAGCCTCAGGGCCCCTCACTTACCTGCAGTTGCTCCTCCCAGGGCCAGTGCCTAATTTTATGTTTGTAATTTGTATTCCTTAAAAGCCTCCCCAAGTCATTTGAGCTTCAGGTCCCTTAAAGCCCGGATAGCTCACAACTGGAAGGAATTTAATGAATAGCGTGAAAACCAATCATCCCAGTTCGTCCAAGACTGTTCCCATCTCGGCATTGAAAGTCTCATGTCTCAGAAAACCTCTCAGTCTTCAGCAAACTGAGACTCTACTGTAATTCTTATAGCAGAATGGGAGTGGGAGTTTAGTATCAGGAGCCTGACACTAGAAAATCCCATTGTTGAGAGGCTGCATGTTTGACCTGATGGTGCCAGGCCCCAGGTCCCACCACAGCCCAGGAGCCCTCCTGCTCTCCCACCCTAGTGACCTGGCTTGTCCTCAGCGAGATCTACCCTGTGGAGATACGAGGAAGAGCCTTCGCCTTCTGCAACAGCTTCAACTGGGCGGCCAACCTCTTCATCAGCCTCTCCTTCCTCGATCTCATTGGTGAGTCCTTCCCAGACAAGTCCGTTTTTTTTCTGTGGCCCAAGCTCCCTACTCTAAAGCAGAAATTTTTGGATTTTCCTATGTATTAGCTGCAGAACTATTATTCTGTGCAGAAACATCATCAAATGTCCAAGACGACATCCAGGACCCTCATATGCACTGTAAAACTCCCCAGGCCAGCTAATGGGTGATGGTCTACACCCAGTACTGGTGAGAGGTCATCTGAGGTCAACCGGCAGGAGTAAGAGTAGCAATGTTTATTTGCTCCAAACTGGCTTAAACTGGTTCATGACACCTGCCAGGTGGAAGTTTTTCTTGGCTTTTCTTTTCTTTTTAATTTTTAATTTTTTTTGAGATGGAATCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAACTATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGTAATCCCAAAGTGCTGGGATTACGGGCATGAGCCACCGTGTCTGGCCTGGAAGTTTTTCTCAAATCAAGTTTGGGTGACATCATCTCTTCCTCCCTAGCATTGAAACCCATTCTGAGGTGTGGTGGGATGGGGTGGAAATGATGTGGGCCCAGAACACCAGGGAATGACTCTGAGATGCTGAGATGCTCATGGCTCCAGGCCCTGGTCTTCAGTGGGTATTGCTCATCTGGGCCAGAGTACA
|
CATCTCCCATCACTCTCACTCACTGGGCTTCAGCCTCTGGCCTCCTGTCTGATTACCTCAGTGATTAAAGGTCCTCACTTTAGCCACATCATCTCTACAACTTACTTGTTATGTGACCATGAGAAAGTTTCTTAACTTCTCTGCACTTTGGAGGATGATATGTTATAGGGTAGCTGTAACAATTAAATGAGAAAATACATATAAAGCTCTTAAAACAGATTCTGGCATTTAGTAAGGGCCATATAAGTACTAACCATTAATATCCATAGTTGTTCAAACACCAAGAACTGTCCTACCTCAGGGCCTCTGTACTTTGTGTTCACTCTGTCTAGGATGTTCTTCTCCCAGATTTTCCTGGGACTTTCATGTCACTCAAATCTCTGCTCAAATTTTTGCTCTTCAGAGAGGCCTTAAAATAGTACTACTCCATCAACCTTAATTCTCCTTCCCTGCTTCATTTTTTATGACATCTTCACTATCTGAAATTATATACTTATTTATCATCTTCCTATTTCTTCTAGAACTTTAGATCCTGGACAACACATCTGTATTCCAGCCCTAAGAGCACTTCCTGGCATGTTGTAAATGCCAGATAAATAAATTTAGATGGATGGATAGATGGATGGATGGATGGACTGATGTGTGGATGAGTATACAAAGGGATGAAATACAGAGATGGGTGGATGAATGGATGGATTTGTAGATAGACTGATCAACAAATTGATGGATGGTTGGGTGAATTAAGGTATAGATAAATGGACATGCAGATGGATGAATATTTGGATGGATGAAGTAGATGAATGGATGGAGGATGCATAGATGGATGGATGGGTGGTTGAATAGATGGAGTGGATGGAAGAATGGATGGATAGTTAAATGGATGATTGAACAGATGGTGTAGATGGATGGTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAGTGGATGGATAGATGGATAGATGGATCAGTGAATGGTTGAATGGGTGGTTGAACAGATGGAGTAGATGGATGGAGGATGAATGGATGGATGGTTGAATTGATGGAGTGGATGGATGGACAGATGGAAGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGAATTGATGGAGTGGATGGATGGACGGATGGATGGATGGATGGATGGATGGATGGTTTGAATGGATGGTTGAATAGATGGAGTAGATGGATGGATAAATGAAGGTGTTGACAGATGGAGGGAAGGTTGAATGGATGGATGGTATGACAAGGAACCATTCTAACTCTGTCCCTCTCACTTTTGTTTTTTAGGCCACTCCCCACCTGTCCTGCCTTTGTGTGCCTCTGTGTCTTTGCTGGGTGGCCTGACCTTTGGTTATGAACTGGCAGTCATATCAGGTGCCCTGCTGCCACTGCAGCTTGACTTTGGGCTAAGCTGCTTGGAGCAGGAGTTCCTGGTGGGCAGCCTGCTCCTGGGGGCTCTCCTCGCCTCCCTGGTTGGTGGCTTCCTCATTGACTGCTATGGCAGGAAGCAAGCCATCCTCGGGAGCAACTTGGTGCTGCTGGCAGGCAGCCTGACCCTGGGCCTGGCTGGTTCCCTGGCCTGGCTGGTCCTGGGCCGCGCTGTGGTTGGCTTCGCCATTTCCCTCTCCTCCATGGCTTGCTGTATCTACGTGTCAGAGCTGGTGGGGCCACGGCAGCGGGGAGTGCTGGTGTCCCTCTATGAGGCAGGCATCACCGTGGGCATCCTGCTCTCCTATGCCCTCAACTATGCACTGGCTGGTACCCCCTGGGGATGGAGGCACATGTTCGGCTGGGCCACTGCACCTGCTGTCCTGCAATCCCTCAGCCTCCTCTTCCTCCCTGCTGGTACAGATGAGACTGCAACACACAAGGACCTCATCCCACTCCAGGGAGGTGAGGCCCCCAAGCTGGGCCCGGGGAGGCCACGGTACTCCTTTCTGGACCTCTTCAGGGCACGCGATAACATGCGAGGCCGGACCACAGTGGGCCTGGGGCTGGTGCTCTTCCAGCAACAGGGCAGCCCAACGTGCTGTGCTATGCCTCCACCATCTTCAGCTCCGTTGGTTTCCATGGGGGATCCTCAGCCGTGCTGGCCTCTGTGGGGCTTGGCGCAGTGAAGGTGGCAGCTACCCTGACCGCCATGGGGCTGGTGGACCGTGCAGGCCGCAGGGCTCTGTTGCTAGCTGGCTGTGCCCTCATGGCCCTGTCCGTCAGTGGCATAGGCCTCGTCAGCTTTGCCGTGCCCATGGACTCAGGCCCAAGCTGTCTGGCTGTGCCCAATGCCACCGGGCAGACAGGCCTCCCTGGAGACTCTGGCCTGCTGCAGGACTCCTCTCTACCTCCCATTCCAAGGACCAATGAGGACCAAAGGGAGCCAATCTTGTCCACTGCTAAGAAAACCAAGCCCCATCCCAGATCTGGAGACCCCTCAGCCCCTCCTCGGCTGGCCCTGAGCTCTGCCCTCCCTGGGCCCCCTCTGCCCGCTCGGGGGCATGCACTGCTGCGCTGGACCGCACTGCTGTGCCTGATGGTCTTTGTCAGTGCCTTCTCCTTTGGGTTTGGGCCAGGTAAGTGGAGTTTTCTTGCAGGTGACTCTGGAGACTTCTACCCCTCCTAGGGGGAAGTTTGGGGACTTCCCACCCTGATGACCTGGCAGGGTGTCAGTGGGGCACTAGAGGTGGGTTGACCATGAAGCCTCAGGGCCCCTCACTTACCTGCAGTTGCTCCTCCCAGGGCCAGTGCCTAATTTTATGTTTGTAATTTGTATTCCTTAAAAGCCTCCCCAAGTCATTTGAGCTTCAGGTCCCTTAAAGCCCGGATAGCTCACAACTGGAAGGAATTTAATGAATAGCGTGAAAACCAATCATCCCAGTTCGTCCAAGACTGTTCCCATCTCGGCATTGAAAGTCTCATGTCTCAGAAAACCTCTCAGTCTTCAGCAAACTGAGACTCTACTGTAATTCTTATAGCAGAATGGGAGTGGGAGTTTAGTATCAGGAGCCTGACACTAGAAAATCCCATTGTTGAGAGGCTGCATGTTTGACCTGATGGTGCCAGGCCCCAGGTCCCACCACAGCCCAGGAGCCCTCCTGCTCTCCCACCCTAGTGACCTGGCTTGTCCTCAGCGAGATCTACCCTGTGGAGATACGAGGAAGAGCCTTCGCCTTCTGCAACAGCTTCAACTGGGCGGCCAACCTCTTCATCAGCCTCTCCTTCCTCGATCTCATTGGTGAGTCCTTCCCAGACAAGTCCGTTTTTTTTCTGTGGCCCAAGCTCCCTACTCTAAAGCAGAAATTTTTGGATTTTCCTATGTATTAGCTGCAGAACTATTATTCTGTGCAGAAACATCATCAAATGTCCAAGACGACATCCAGGACCCTCATATGCACTGTAAAACTCCCCAGGCCAGCTAATGGGTGATGGTCTACACCCAGTACTGGTGAGAGGTCATCTGAGGTCAACCGGCAGGAGTAAGAGTAGCAATGTTTATTTGCTCCAAACTGGCTTAAACTGGTTCATGACACCTGCCAGGTGGAAGTTTTTCTTGGCTTTTCTTTTCTTTTTAATTTTTAATTTTTTTTGAGATGGAATCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAACTATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGTAATCCCAAAGTGCTGGGATTACGGGCATGAGCCACCGTGTCTGGCCTGGAAGTTTTTCTCAAATCAAGTTTGGGTGACATCATCTCTTCCTCCCTAGCATTGAAACCCATTCTGAGGTGTGGTGGGATGGGGTGGAAATGATGTGGGCCCAGAACACCAGGGAATGACTCTGAGATGCTGAGATGCTCATGGCTCCAGGCCCTGGTCTTCAGTGGGTATTGCTCATCTGGGCCAGAGTACANNNN
|
pathogenic
| 314,359 |
Does the chromosome 20 mutation at position 46726907 within gene SLC2A10 (solute carrier family 2 member 10) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Arterial_tortuosity_syndrome', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'SLC2A10-related_disorder']
|
GGAGTGGATGGATGGACGGATGGATGGATGGATGGATGGATGGATGGTTTGAATGGATGGTTGAATAGATGGAGTAGATGGATGGATAAATGAAGGTGTTGACAGATGGAGGGAAGGTTGAATGGATGGATGGTATGACAAGGAACCATTCTAACTCTGTCCCTCTCACTTTTGTTTTTTAGGCCACTCCCCACCTGTCCTGCCTTTGTGTGCCTCTGTGTCTTTGCTGGGTGGCCTGACCTTTGGTTATGAACTGGCAGTCATATCAGGTGCCCTGCTGCCACTGCAGCTTGACTTTGGGCTAAGCTGCTTGGAGCAGGAGTTCCTGGTGGGCAGCCTGCTCCTGGGGGCTCTCCTCGCCTCCCTGGTTGGTGGCTTCCTCATTGACTGCTATGGCAGGAAGCAAGCCATCCTCGGGAGCAACTTGGTGCTGCTGGCAGGCAGCCTGACCCTGGGCCTGGCTGGTTCCCTGGCCTGGCTGGTCCTGGGCCGCGCTGTGGTTGGCTTCGCCATTTCCCTCTCCTCCATGGCTTGCTGTATCTACGTGTCAGAGCTGGTGGGGCCACGGCAGCGGGGAGTGCTGGTGTCCCTCTATGAGGCAGGCATCACCGTGGGCATCCTGCTCTCCTATGCCCTCAACTATGCACTGGCTGGTACCCCCTGGGGATGGAGGCACATGTTCGGCTGGGCCACTGCACCTGCTGTCCTGCAATCCCTCAGCCTCCTCTTCCTCCCTGCTGGTACAGATGAGACTGCAACACACAAGGACCTCATCCCACTCCAGGGAGGTGAGGCCCCCAAGCTGGGCCCGGGGAGGCCACGGTACTCCTTTCTGGACCTCTTCAGGGCACGCGATAACATGCGAGGCCGGACCACAGTGGGCCTGGGGCTGGTGCTCTTCCAGCAACTAACAGGGCAGCCCAACGTGCTGTGCTATGCCTCCACCATCTTCAGCTCCGTTGGTTTCCATGGGGGATCCTCAGCCGTGCTGGCCTCTGTGGGGCTTGGCGCAGTGAAGGTGGCAGCTACCCTGACCGCCATGGGGCTGGTGGACCGTGCAGGCCGCAGGGCTCTGTTGCTAGCTGGCTGTGCCCTCATGGCCCTGTCCGTCAGTGGCATAGGCCTCGTCAGCTTTGCCGTGCCCATGGACTCAGGCCCAAGCTGTCTGGCTGTGCCCAATGCCACCGGGCAGACAGGCCTCCCTGGAGACTCTGGCCTGCTGCAGGACTCCTCTCTACCTCCCATTCCAAGGACCAATGAGGACCAAAGGGAGCCAATCTTGTCCACTGCTAAGAAAACCAAGCCCCATCCCAGATCTGGAGACCCCTCAGCCCCTCCTCGGCTGGCCCTGAGCTCTGCCCTCCCTGGGCCCCCTCTGCCCGCTCGGGGGCATGCACTGCTGCGCTGGACCGCACTGCTGTGCCTGATGGTCTTTGTCAGTGCCTTCTCCTTTGGGTTTGGGCCAGGTAAGTGGAGTTTTCTTGCAGGTGACTCTGGAGACTTCTACCCCTCCTAGGGGGAAGTTTGGGGACTTCCCACCCTGATGACCTGGCAGGGTGTCAGTGGGGCACTAGAGGTGGGTTGACCATGAAGCCTCAGGGCCCCTCACTTACCTGCAGTTGCTCCTCCCAGGGCCAGTGCCTAATTTTATGTTTGTAATTTGTATTCCTTAAAAGCCTCCCCAAGTCATTTGAGCTTCAGGTCCCTTAAAGCCCGGATAGCTCACAACTGGAAGGAATTTAATGAATAGCGTGAAAACCAATCATCCCAGTTCGTCCAAGACTGTTCCCATCTCGGCATTGAAAGTCTCATGTCTCAGAAAACCTCTCAGTCTTCAGCAAACTGAGACTCTACTGTAATTCTTATAGCAGAATGGGAGTGGGAGTTTAGTATCAGGAGCCTGACACTAGAAAATCCCATTGTTGAGAGGCTGCATGTTTGACCTGATGGTGCCAGGCCCCAGGTCCCACCACAGCCCAGGAGCCCTCCTGCTCTCCCACCCTAGTGACCTGGCTTGTCCTCAGCGAGATCTACCCTGTGGAGATACGAGGAAGAGCCTTCGCCTTCTGCAACAGCTTCAACTGGGCGGCCAACCTCTTCATCAGCCTCTCCTTCCTCGATCTCATTGGTGAGTCCTTCCCAGACAAGTCCGTTTTTTTTCTGTGGCCCAAGCTCCCTACTCTAAAGCAGAAATTTTTGGATTTTCCTATGTATTAGCTGCAGAACTATTATTCTGTGCAGAAACATCATCAAATGTCCAAGACGACATCCAGGACCCTCATATGCACTGTAAAACTCCCCAGGCCAGCTAATGGGTGATGGTCTACACCCAGTACTGGTGAGAGGTCATCTGAGGTCAACCGGCAGGAGTAAGAGTAGCAATGTTTATTTGCTCCAAACTGGCTTAAACTGGTTCATGACACCTGCCAGGTGGAAGTTTTTCTTGGCTTTTCTTTTCTTTTTAATTTTTAATTTTTTTTGAGATGGAATCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAACTATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGTAATCCCAAAGTGCTGGGATTACGGGCATGAGCCACCGTGTCTGGCCTGGAAGTTTTTCTCAAATCAAGTTTGGGTGACATCATCTCTTCCTCCCTAGCATTGAAACCCATTCTGAGGTGTGGTGGGATGGGGTGGAAATGATGTGGGCCCAGAACACCAGGGAATGACTCTGAGATGCTGAGATGCTCATGGCTCCAGGCCCTGGTCTTCAGTGGGTATTGCTCATCTGGGCCAGAGTACACAGGCTCCTTCACTGTGGTCCCCAAGGCACAGTTCTTAGGGTTCAGTTATTTTCCTATTCCCTATGGCCAAGAGTTTCCTTCCCAAAGGTGCAGCCAACTTGGGAGGCTGGGGGGCAGTGCTGTGGGAAACCCCAGTGGAAGAACCCCCCCTATCATGGCTGTCTTCCAACCCCAGTCTTAGGGAATCCAAGCTTCTCCCTGCAGCCTCAGTCTTCAAGCATTTCCCTTTGTGTGGAGTAAATGAGTGAGAGAGGAGAAAGAAGGAGAGAAACAAGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGAATTTATTAGAATTGTGTCATATATCATCCCCATTTCACAGATGGGAAAATACATCCTTACCCCGTCCAGCCAGGGAGTCAAAAGACTAGAACCAGCCCCACTGCCTTCCAGCCCATTGCTCTCCCTGCTGGCGATAGGTCCAGCTGGTCATGGGAGGCTGCCTAAAGGAGGTATGGACGTGGCTGTCAGAGGTGAGAATGGCTTCCAAAACATAATTTGTCTTCCACCTTGACAAAGATCCTTCCTCCACAGCCTCTTCTCTGTCTTGGGATGAATGACATCAAATGACTCAGGGTCATTCCCATCTTGGCTGCTGGTTCTGAGACCCACCGGAGGCTCTAGGAGGAGGCTGACTCTGGGACTGAACTGTGGCTTTTGTCCTCTCTCCCAAACCAGTCACAGGTCAAACTGGCTGAAACTCAATTCTCTGAATGATCAATTCACTGAATGACCGATTCATGGAATTTCTGGGTGTGTTTTTTTTTTTTTTTTTTTTTTTTGAAACAGGGTCTCACTCTGTCGCCCTGAGTGCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAGCCTTGACCTCCGGGGCTCAAACAATCCTCCAGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTTTATTTTTTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAACCACTGCACCAAGCCCAATTCATGAAATTTCTAAGGATTTTTTTT
|
GGAGTGGATGGATGGACGGATGGATGGATGGATGGATGGATGGATGGTTTGAATGGATGGTTGAATAGATGGAGTAGATGGATGGATAAATGAAGGTGTTGACAGATGGAGGGAAGGTTGAATGGATGGATGGTATGACAAGGAACCATTCTAACTCTGTCCCTCTCACTTTTGTTTTTTAGGCCACTCCCCACCTGTCCTGCCTTTGTGTGCCTCTGTGTCTTTGCTGGGTGGCCTGACCTTTGGTTATGAACTGGCAGTCATATCAGGTGCCCTGCTGCCACTGCAGCTTGACTTTGGGCTAAGCTGCTTGGAGCAGGAGTTCCTGGTGGGCAGCCTGCTCCTGGGGGCTCTCCTCGCCTCCCTGGTTGGTGGCTTCCTCATTGACTGCTATGGCAGGAAGCAAGCCATCCTCGGGAGCAACTTGGTGCTGCTGGCAGGCAGCCTGACCCTGGGCCTGGCTGGTTCCCTGGCCTGGCTGGTCCTGGGCCGCGCTGTGGTTGGCTTCGCCATTTCCCTCTCCTCCATGGCTTGCTGTATCTACGTGTCAGAGCTGGTGGGGCCACGGCAGCGGGGAGTGCTGGTGTCCCTCTATGAGGCAGGCATCACCGTGGGCATCCTGCTCTCCTATGCCCTCAACTATGCACTGGCTGGTACCCCCTGGGGATGGAGGCACATGTTCGGCTGGGCCACTGCACCTGCTGTCCTGCAATCCCTCAGCCTCCTCTTCCTCCCTGCTGGTACAGATGAGACTGCAACACACAAGGACCTCATCCCACTCCAGGGAGGTGAGGCCCCCAAGCTGGGCCCGGGGAGGCCACGGTACTCCTTTCTGGACCTCTTCAGGGCACGCGATAACATGCGAGGCCGGACCACAGTGGGCCTGGGGCTGGTGCTCTTCCAGCAACTAACAGGGCAGCCCAACGTGCTGTGCTATGCCTCCACCATCTTCAGCTCCGTTGGTTTCCATGGGGGATCCTCAGCCGTGCTGGCCTCTGTGGGGCTTGGCGCAGTGAAGGTGGCAGCTACCCTGACCGCCATGGGGCTGGTGGACCGTGCAGGCCGCAGGGCTCTGTTGCTAGCTGGCTGTGCCCTCATGGCCCTGTCCGTCAGTGGCATAGGCCTCGTCAGCTTTGCCGTGCCCATGGACTCAGGCCCAAGCTGTCTGGCTGTGCCCAATGCCACCGGGCAGACAGGCCTCCCTGGAGACTCTGGCCTGCTGCAGGACTCCTCTCTACCTCCCATTCCAAGGACCAATGAGGACCAAAGGGAGCCAATCTTGTCCACTGCTAAGAAAACCAAGCCCCATCCCAGATCTGGAGACCCCTCAGCCCCTCCTCGGCTGGCCCTGAGCTCTGCCCTCCCTGGGCCCCCTCTGCCCGCTCGGGGGCATGCACTGCTGCGCTGGACCGCACTGCTGTGCCTGATGGTCTTTGTCAGTGCCTTCTCCTTTGGGTTTGGGCCAGGTAAGTGGAGTTTTCTTGCAGGTGACTCTGGAGACTTCTACCCCTCCTAGGGGGAAGTTTGGGGACTTCCCACCCTGATGACCTGGCAGGGTGTCAGTGGGGCACTAGAGGTGGGTTGACCATGAAGCCTCAGGGCCCCTCACTTACCTGCAGTTGCTCCTCCCAGGGCCAGTGCCTAATTTTATGTTTGTAATTTGTATTCCTTAAAAGCCTCCCCAAGTCATTTGAGCTTCAGGTCCCTTAAAGCCCGGATAGCTCACAACTGGAAGGAATTTAATGAATAGCGTGAAAACCAATCATCCCAGTTCGTCCAAGACTGTTCCCATCTCGGCATTGAAAGTCTCATGTCTCAGAAAACCTCTCAGTCTTCAGCAAACTGAGACTCTACTGTAATTCTTATAGCAGAATGGGAGTGGGAGTTTAGTATCAGGAGCCTGACACTAGAAAATCCCATTGTTGAGAGGCTGCATGTTTGACCTGATGGTGCCAGGCCCCAGGTCCCACCACAGCCCAGGAGCCCTCCTGCTCTCCCACCCTAGTGACCTGGCTTGTCCTCAGCGAGATCTACCCTGTGGAGATACGAGAAGAGCCTTCGCCTTCTGCAACAGCTTCAACTGGGCGGCCAACCTCTTCATCAGCCTCTCCTTCCTCGATCTCATTGGTGAGTCCTTCCCAGACAAGTCCGTTTTTTTTCTGTGGCCCAAGCTCCCTACTCTAAAGCAGAAATTTTTGGATTTTCCTATGTATTAGCTGCAGAACTATTATTCTGTGCAGAAACATCATCAAATGTCCAAGACGACATCCAGGACCCTCATATGCACTGTAAAACTCCCCAGGCCAGCTAATGGGTGATGGTCTACACCCAGTACTGGTGAGAGGTCATCTGAGGTCAACCGGCAGGAGTAAGAGTAGCAATGTTTATTTGCTCCAAACTGGCTTAAACTGGTTCATGACACCTGCCAGGTGGAAGTTTTTCTTGGCTTTTCTTTTCTTTTTAATTTTTAATTTTTTTTGAGATGGAATCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAACTATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGTAATCCCAAAGTGCTGGGATTACGGGCATGAGCCACCGTGTCTGGCCTGGAAGTTTTTCTCAAATCAAGTTTGGGTGACATCATCTCTTCCTCCCTAGCATTGAAACCCATTCTGAGGTGTGGTGGGATGGGGTGGAAATGATGTGGGCCCAGAACACCAGGGAATGACTCTGAGATGCTGAGATGCTCATGGCTCCAGGCCCTGGTCTTCAGTGGGTATTGCTCATCTGGGCCAGAGTACACAGGCTCCTTCACTGTGGTCCCCAAGGCACAGTTCTTAGGGTTCAGTTATTTTCCTATTCCCTATGGCCAAGAGTTTCCTTCCCAAAGGTGCAGCCAACTTGGGAGGCTGGGGGGCAGTGCTGTGGGAAACCCCAGTGGAAGAACCCCCCCTATCATGGCTGTCTTCCAACCCCAGTCTTAGGGAATCCAAGCTTCTCCCTGCAGCCTCAGTCTTCAAGCATTTCCCTTTGTGTGGAGTAAATGAGTGAGAGAGGAGAAAGAAGGAGAGAAACAAGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGAATTTATTAGAATTGTGTCATATATCATCCCCATTTCACAGATGGGAAAATACATCCTTACCCCGTCCAGCCAGGGAGTCAAAAGACTAGAACCAGCCCCACTGCCTTCCAGCCCATTGCTCTCCCTGCTGGCGATAGGTCCAGCTGGTCATGGGAGGCTGCCTAAAGGAGGTATGGACGTGGCTGTCAGAGGTGAGAATGGCTTCCAAAACATAATTTGTCTTCCACCTTGACAAAGATCCTTCCTCCACAGCCTCTTCTCTGTCTTGGGATGAATGACATCAAATGACTCAGGGTCATTCCCATCTTGGCTGCTGGTTCTGAGACCCACCGGAGGCTCTAGGAGGAGGCTGACTCTGGGACTGAACTGTGGCTTTTGTCCTCTCTCCCAAACCAGTCACAGGTCAAACTGGCTGAAACTCAATTCTCTGAATGATCAATTCACTGAATGACCGATTCATGGAATTTCTGGGTGTGTTTTTTTTTTTTTTTTTTTTTTTTGAAACAGGGTCTCACTCTGTCGCCCTGAGTGCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAGCCTTGACCTCCGGGGCTCAAACAATCCTCCAGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTTTATTTTTTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAACCACTGCACCAAGCCCAATTCATGAAATTTCTAAGGATTTTTTTTN
|
pathogenic
| 314,390 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 46729502, gene SLC2A10 (solute carrier family 2 member 10). What disease(s) is it linked to if pathogenic?
|
benign
|
GGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGTAATCCCAAAGTGCTGGGATTACGGGCATGAGCCACCGTGTCTGGCCTGGAAGTTTTTCTCAAATCAAGTTTGGGTGACATCATCTCTTCCTCCCTAGCATTGAAACCCATTCTGAGGTGTGGTGGGATGGGGTGGAAATGATGTGGGCCCAGAACACCAGGGAATGACTCTGAGATGCTGAGATGCTCATGGCTCCAGGCCCTGGTCTTCAGTGGGTATTGCTCATCTGGGCCAGAGTACACAGGCTCCTTCACTGTGGTCCCCAAGGCACAGTTCTTAGGGTTCAGTTATTTTCCTATTCCCTATGGCCAAGAGTTTCCTTCCCAAAGGTGCAGCCAACTTGGGAGGCTGGGGGGCAGTGCTGTGGGAAACCCCAGTGGAAGAACCCCCCCTATCATGGCTGTCTTCCAACCCCAGTCTTAGGGAATCCAAGCTTCTCCCTGCAGCCTCAGTCTTCAAGCATTTCCCTTTGTGTGGAGTAAATGAGTGAGAGAGGAGAAAGAAGGAGAGAAACAAGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGAATTTATTAGAATTGTGTCATATATCATCCCCATTTCACAGATGGGAAAATACATCCTTACCCCGTCCAGCCAGGGAGTCAAAAGACTAGAACCAGCCCCACTGCCTTCCAGCCCATTGCTCTCCCTGCTGGCGATAGGTCCAGCTGGTCATGGGAGGCTGCCTAAAGGAGGTATGGACGTGGCTGTCAGAGGTGAGAATGGCTTCCAAAACATAATTTGTCTTCCACCTTGACAAAGATCCTTCCTCCACAGCCTCTTCTCTGTCTTGGGATGAATGACATCAAATGACTCAGGGTCATTCCCATCTTGGCTGCTGGTTCTGAGACCCACCGGAGGCTCTAGGAGGAGGCTGACTCTGGGACTGAACTGTGGCTTTTGTCCTCTCTCCCAAACCAGTCACAGGTCAAACTGGCTGAAACTCAATTCTCTGAATGATCAATTCACTGAATGACCGATTCATGGAATTTCTGGGTGTGTTTTTTTTTTTTTTTTTTTTTTTTGAAACAGGGTCTCACTCTGTCGCCCTGAGTGCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAGCCTTGACCTCCGGGGCTCAAACAATCCTCCAGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTTTATTTTTTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAACCACTGCACCAAGCCCAATTCATGAAATTTCTAAGGATTTTTTTTTTTTCAAACTGAGATTTGCCAAGGCCGTGTCCATGCAGCTGTTTGGCCACTCAGCTGGATCCACGATCCCTCAGGCCAGGCTTTCGGAGCCCAAGCGTGCTCCACGGGATAGTGCTCTAGATGTGGGTGAGGGGCCTTTCCCATAAACACAAGTTGCCTTTGTCTCTGTGCTTGTGGACTTGCGTCCTGGCTCATCCCCGCCTTTGAGACAATCAGCGAGATTTCCGCTTTAAGGTACTTCACTGACAGCTTATTGGTCACTCTGCAAATTGACCAACGGGAACATTTGCTTTGAGTGAACTGACTTTCCATGCCTGACCTAGAACCTACCAGTTGGCCCAGGCTGCGGGGCCAGAGTGCTTGGTCCTGGGCCTACACTCCCGCCCTCCTGTTTCCAGGCACCATCGGCTTGTCCTGGACCTTCCTGCTCTACGGACTGACCGCTGTCCTCGGCCTGGGCTTCATCTATTTATTTGTTCCTGAAACAAAAGGCCAGTCGTTGGCAGAGATAGACCAGCAGTTCCAGAAGAGACGGTAGGAAGCTGACAGGGTGGGTCTGGGGGAAGAGCTGTAGCACACCCCAAGCACACAGCTTCAGGATTTTAGTCTTTGTGCTTTCCTTTTGCAAGCGGGCATTCCTCCTGTCTTCCTTATTGCCTGGGCACTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAAGCGTGAGCCACCGCGCCCGGCCGGCACTATGAGTTTTGTCCGGTCACACACAAACTGTTTTCCTTGAGTTGTTTTGTGTCTCCCTACAGTGCCTTTTCATTTGACTTTAAGACCCAGCTCATGGGGATTTAAAAATCATTTGATTATGGAATCACAGGAGGCTAGAAGAGTAGAATCTTAAAACCATAAACTATCTTAGAGTCACAGGACCTTGGAGTAGCAAAATATCATAACTATGGCCTTTAAACATTGCACGCAAAACGCTTGTGGGCTTCATGCATTCATTCCGTGGCTATTTATTAAGTCCTTACTCTGTGCCAGACAGTGTTCAGAGCCTTAGGAAACATGCTGAGATTAAGGAAGACAAAGTGCCTGTCCTCAAGAGCTTCCATTTGATGGGGGAGGGAAGCCAACAAATGCATAAACAAGAGCGTTTTAGTTGGTGATGAGTAATTAGGAGAAAATGAAGCAGAGCAAAATATGTTGAGAGGGCCAGGTTGACACAGGAGGAACAAAGAAGAAAGGGGTTGTGGCTGAAGTAGAGTGGGTGGTGAGGGAGGGAAGTCGTCTCAGAGGAGGTGGAATTTAAGTTAGTGAGAAGGAGGCACCCACGTAATGATGAGGGGAGGAGCATTCTAAGCAGAAGGAACAGCAAGTGCAAAGGCCCTGAGGTGGGCATGTATCTGGCATGTGCAAGGAACAACAAGGAAGCCAGTGTGCCTGGAACAGAGGGAGGAAGGGAAGAGCGTGGAGGGTCAGACAGGCCAGATGGGTAGGATCACATCAGGTCTTCAGGTTATTGAGGGGAGTTCAGAATCTTAGCATCATGAGACCTTAGGCTGTTCAAATAAAAGAAGAGTGAAATGGGAGCTTCAGAAGGAACTTCAAAGTGCTACAGTCCTAAGCATCCTTGGCAAATATCCCCAGTTACCTCTTAAAAGCAGGTGATAGTCACCAGCTCCTGACTGCCCATTCTGTTTCTGGGAAGTCATAAAACGTTTTAAAAAATCATTCTATTATTGACTAGCATCCCTGCACTGGCTGCTAAGCCCCACCCCAATCTGGATCCTAATGTAAGAACCTGTGACCCAGTCCTCCCCACCCCAGAATGTTCTCTCCTACTTTGTTGAGTGGAACCTTCTGCAGTTTCGGCAGGCGCCTCAGCAACCCAGCTGTATTAGTTAGGAAATCGATTTGGCTGCTTGAAGTCGTCCAAATGTCGGTTGGGGGTCCAGGGTTGGGTGGATGCAGCATGCCATGAGCTCATGTAGGGTCCCAGGCTCCTTCTGTCTTGTTGCTCTGCCACCTCTTCCATATCACCTTTCCTGCATGGCCTAAGGAGGTGCACCCCCACATACCTGCCAGAGGATGGGGGAGGGGAAGGGGTGGGCACAGTCCTCAAGGTCACTTCCACCCACATGACTTTCCATAGAACTTGGCTACACCTATATGCAGGGGAGGCCAAGAAATGTGGTCTTCAATCTGGGCAGCCATGTGCCCAGCTAAAAATCGAGGGTTCTGTTACTAGACAGCTGCCTGGCATCTCTGCCACACTGGTTTTCTTGGGAGAAGATTCCAAATCCATCCTCTGGGATAAAAAGCAACGGAGGCAGAAACGCTGGTGGGAGCCAGCTTTGGGGTA
|
GGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGTAATCCCAAAGTGCTGGGATTACGGGCATGAGCCACCGTGTCTGGCCTGGAAGTTTTTCTCAAATCAAGTTTGGGTGACATCATCTCTTCCTCCCTAGCATTGAAACCCATTCTGAGGTGTGGTGGGATGGGGTGGAAATGATGTGGGCCCAGAACACCAGGGAATGACTCTGAGATGCTGAGATGCTCATGGCTCCAGGCCCTGGTCTTCAGTGGGTATTGCTCATCTGGGCCAGAGTACACAGGCTCCTTCACTGTGGTCCCCAAGGCACAGTTCTTAGGGTTCAGTTATTTTCCTATTCCCTATGGCCAAGAGTTTCCTTCCCAAAGGTGCAGCCAACTTGGGAGGCTGGGGGGCAGTGCTGTGGGAAACCCCAGTGGAAGAACCCCCCCTATCATGGCTGTCTTCCAACCCCAGTCTTAGGGAATCCAAGCTTCTCCCTGCAGCCTCAGTCTTCAAGCATTTCCCTTTGTGTGGAGTAAATGAGTGAGAGAGGAGAAAGAAGGAGAGAAACAAGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGAATTTATTAGAATTGTGTCATATATCATCCCCATTTCACAGATGGGAAAATACATCCTTACCCCGTCCAGCCAGGGAGTCAAAAGACTAGAACCAGCCCCACTGCCTTCCAGCCCATTGCTCTCCCTGCTGGCGATAGGTCCAGCTGGTCATGGGAGGCTGCCTAAAGGAGGTATGGACGTGGCTGTCAGAGGTGAGAATGGCTTCCAAAACATAATTTGTCTTCCACCTTGACAAAGATCCTTCCTCCACAGCCTCTTCTCTGTCTTGGGATGAATGACATCAAATGACTCAGGGTCATTCCCATCTTGGCTGCTGGTTCTGAGACCCACCGGAGGCTCTAGGAGGAGGCTGACTCTGGGACTGAACTGTGGCTTTTGTCCTCTCTCCCAAACCAGTCACAGGTCAAACTGGCTGAAACTCAATTCTCTGAATGATCAATTCACTGAATGACCGATTCATGGAATTTCTGGGTGTGTTTTTTTTTTTTTTTTTTTTTTTTGAAACAGGGTCTCACTCTGTCGCCCTGAGTGCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAGCCTTGACCTCCGGGGCTCAAACAATCCTCCAGCCTCAGCCTCCCGAGTAGCTGGGGCTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTTTATTTTTTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCACTTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAACCACTGCACCAAGCCCAATTCATGAAATTTCTAAGGATTTTTTTTTTTTCAAACTGAGATTTGCCAAGGCCGTGTCCATGCAGCTGTTTGGCCACTCAGCTGGATCCACGATCCCTCAGGCCAGGCTTTCGGAGCCCAAGCGTGCTCCACGGGATAGTGCTCTAGATGTGGGTGAGGGGCCTTTCCCATAAACACAAGTTGCCTTTGTCTCTGTGCTTGTGGACTTGCGTCCTGGCTCATCCCCGCCTTTGAGACAATCAGCGAGATTTCCGCTTTAAGGTACTTCACTGACAGCTTATTGGTCACTCTGCAAATTGACCAACGGGAACATTTGCTTTGAGTGAACTGACTTTCCATGCCTGACCTAGAACCTACCAGTTGGCCCAGGCTGCGGGGCCAGAGTGCTTGGTCCTGGGCCTACACTCCCGCCCTCCTGTTTCCAGGCACCATCGGCTTGTCCTGGACCTTCCTGCTCTACGGACTGACCGCTGTCCTCGGCCTGGGCTTCATCTATTTATTTGTTCCTGAAACAAAAGGCCAGTCGTTGGCAGAGATAGACCAGCAGTTCCAGAAGAGACGGTAGGAAGCTGACAGGGGTGGGTCTGGGGGAAGAGCTGTAGCACACCCCAAGCACACAGCTTCAGGATTTTAGTCTTTGTGCTTTCCTTTTGCAAGCGGGCATTCCTCCTGTCTTCCTTATTGCCTGGGCACTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAAGCGTGAGCCACCGCGCCCGGCCGGCACTATGAGTTTTGTCCGGTCACACACAAACTGTTTTCCTTGAGTTGTTTTGTGTCTCCCTACAGTGCCTTTTCATTTGACTTTAAGACCCAGCTCATGGGGATTTAAAAATCATTTGATTATGGAATCACAGGAGGCTAGAAGAGTAGAATCTTAAAACCATAAACTATCTTAGAGTCACAGGACCTTGGAGTAGCAAAATATCATAACTATGGCCTTTAAACATTGCACGCAAAACGCTTGTGGGCTTCATGCATTCATTCCGTGGCTATTTATTAAGTCCTTACTCTGTGCCAGACAGTGTTCAGAGCCTTAGGAAACATGCTGAGATTAAGGAAGACAAAGTGCCTGTCCTCAAGAGCTTCCATTTGATGGGGGAGGGAAGCCAACAAATGCATAAACAAGAGCGTTTTAGTTGGTGATGAGTAATTAGGAGAAAATGAAGCAGAGCAAAATATGTTGAGAGGGCCAGGTTGACACAGGAGGAACAAAGAAGAAAGGGGTTGTGGCTGAAGTAGAGTGGGTGGTGAGGGAGGGAAGTCGTCTCAGAGGAGGTGGAATTTAAGTTAGTGAGAAGGAGGCACCCACGTAATGATGAGGGGAGGAGCATTCTAAGCAGAAGGAACAGCAAGTGCAAAGGCCCTGAGGTGGGCATGTATCTGGCATGTGCAAGGAACAACAAGGAAGCCAGTGTGCCTGGAACAGAGGGAGGAAGGGAAGAGCGTGGAGGGTCAGACAGGCCAGATGGGTAGGATCACATCAGGTCTTCAGGTTATTGAGGGGAGTTCAGAATCTTAGCATCATGAGACCTTAGGCTGTTCAAATAAAAGAAGAGTGAAATGGGAGCTTCAGAAGGAACTTCAAAGTGCTACAGTCCTAAGCATCCTTGGCAAATATCCCCAGTTACCTCTTAAAAGCAGGTGATAGTCACCAGCTCCTGACTGCCCATTCTGTTTCTGGGAAGTCATAAAACGTTTTAAAAAATCATTCTATTATTGACTAGCATCCCTGCACTGGCTGCTAAGCCCCACCCCAATCTGGATCCTAATGTAAGAACCTGTGACCCAGTCCTCCCCACCCCAGAATGTTCTCTCCTACTTTGTTGAGTGGAACCTTCTGCAGTTTCGGCAGGCGCCTCAGCAACCCAGCTGTATTAGTTAGGAAATCGATTTGGCTGCTTGAAGTCGTCCAAATGTCGGTTGGGGGTCCAGGGTTGGGTGGATGCAGCATGCCATGAGCTCATGTAGGGTCCCAGGCTCCTTCTGTCTTGTTGCTCTGCCACCTCTTCCATATCACCTTTCCTGCATGGCCTAAGGAGGTGCACCCCCACATACCTGCCAGAGGATGGGGGAGGGGAAGGGGTGGGCACAGTCCTCAAGGTCACTTCCACCCACATGACTTTCCATAGAACTTGGCTACACCTATATGCAGGGGAGGCCAAGAAATGTGGTCTTCAATCTGGGCAGCCATGTGCCCAGCTAAAAATCGAGGGTTCTGTTACTAGACAGCTGCCTGGCATCTCTGCCACACTGGTTTTCTTGGGAGAAGATTCCAAATCCATCCTCTGGGATAAAAAGCAACGGAGGCAGAAACGCTGGTGGGAGCCAGCTTTGGGGT
|
benign
| 314,410 |
Is the variant located on chromosome 20 at position 49374471, gene KCNB1 (potassium voltage-gated channel subfamily B member 1), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_26']
|
GGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCTTGGCCAACTTCATGCTGATGGACCTGTCATGGCTCTCAAGGTCTTAGGGAGCCTTCTCTGGAGTCTCTCTTCTCTCTGAGGGCTTTACAGGGCCTTTCTGTTCCAGAGTTCATGCAGAAAAGCTCTGTGGCAGGTAAGCTGAACAGCTCTCCTCTTTGGACCTCACCCAAAAGTCTCTCCTCCAAGGCAGGGCAGTTCAGATGCTCTGATCTCGTGTGCTTCCATGGGCTCCTCCCCCTGGCAACACACGGACGTCAGGGGAGATGTGGTTCTCAAGTTTGCACTTTTCCTGACCACTGGGGCCTTTTCCAGTCAATGCTTCTGTGGAGTAAATACAGTTCTGCCTTAAGAACTTAGGGGAGGTGGGTAAAGGGGAGCTTTCAAAGTGGTTTTTCTCCGATCTTGTCCCCGTGCTGAACTTCGGACTGGTGCTCCCAGGGAGGCTTTTGGGGGGGCTGGAGTCCACACTGTAGAGCAGCTGTCCCTCATCATCTGTGTCTGCGTCAATGTACTGGTGGACACCCGCCTCAAAGTTGAACGCTATTGCTGTGTGTTTCTCAGGAGACCGGGGGGGTGTCTTAGCACTTGCTGTGGTGTAGATGGAGGACTCTGGGCTCAGCACAGCCTTGTCCAAAAGCGTGGCACACTCCAGTCCAGCGACAGCAGCCGCAGCACTCCCCCGGTTCCTGAGAGGGTCATGGTACATCCCTAGAACGGGGAGGAGTGGACTGGGGTCACCCTCCATGAAGTTGACTTTAAGTGCTCGGAGCTTCAAAGGGTTGTTAGTTTTCATGGAACTCTTGGGGCTCTCGATGAAGAAACTAGAGTGCTGGCTGGCATCAGGGCTGGGGTTGGCCTCCACAAACCTACCACCACTGGCACCCAGAGCTCCCCGCCAGCCCACTTCTGGGGCTGTGCTGCCCCCAGTCTTGCTGGGGAGTGATGTCAAAGGGCTGTGGGAGAATCTGGTGGCCTCAGGGAAGTCTGTGGCACAGCTAATGAAACTATCAATGCTTGACATACTTCGCATGTCAATGACCCCTTCTGTGCGAGTGGGCAGAGGGGCTACGGGGCTGGGGATACTCTCCATTTCAAGTTCTTCCTTTGGTTTGCTCTGTGCTGCTGACTCCTTGGTATTGAGGATGGGTTGGGATTGGGTCTTGGCCATCTTATTGTACATGTCTTCCAACTGCTGAACGTTCAGGTGCTGAGGACTAGAAGACGATCTGGCTTTTTCAGGGGATCCCTGTTCCTTGGTTTCAAAGGACTTACTTGAGCTGGTTTCAGACAGTGTCCTCTTTGTCCATTTCCATTTGTTAGGAGACAAGTGGTTATCTTGTACTTTGTCTTTCTTACCCATATTCTCCCCATTTTTCTCAACCACAATGTCCATCATCTCAATGCTCCGGGCAAAAGCATCCTTCATGTTCATGGATACGATGCTGCCATTCCTCTTGGCTCTCTCCAGAGCCTCTCGCCGTTTGATTGCTTTCTCCTGTCTCTTCTGCTCCTTATAGAACTCAGAGAAGTTATTGACGATGATGGGGATGGGAAGAGCAATCACCAGGACTCCTGCAATGCAGCAGAGTCCCCCAACAATTTTCCCCAGGAGAGTCTTGGGGTAGATGTCTCCATACCCAACAGTAGTCATGGTGATGGTGGCCCACCAGAAAGAGGCTGGGATGCTTTTGAACTTGGTGTCGTCCTCATCCTTCTCAGCAAAGAAGACAAGGCTGGAGAAGATCATAATGCCCATGGCAAGGAAGAGGATGAGCAAGCCCAACTCATTGTAGCTCCTCCGCAAAGTGAAGCCCAGAGACTGGAGGCCAGTGGAGTGGCGTGCAAGCTTAAGGATGCGGAGAATTCGCATGATGCGGAAGATCTGGACCACGCGGCGGACATTCTGGAATTGCAGCACGCTCTTGTTGGATTCGGTGAGGAAAATGGTGACATAGTATGGCAGAATGGCCAACAAGTCAATGGCATTGAGTGGGCCCTTGAAGAACTTCCACTTCTTGGGCGAGGAGAGGAACCTCAGCAGGTACTCCATGGTGAACCATGCGATGCACACGGCCTCCACGTGGGCCAGCTGGGGGTTGTCTGTGGACTGGCCGAACTCATCGAGGCTCTGTAGCTCAGGCAGCGTGTTGAGGGACAGGGCAATGGTGGAGAGGACGATGAACATGATGGAAATTATGGCAAGGATCTGTGAGGAGAAGAGAGTGGGATTTAGTTATCAACCACCCCACAGGATGATCATCATAATATCCTGGATCTACAGGGCACTCCTCAATGTTCAAGAGCATTTTCACATTTCACTAGTCATTTAATGAGCCAAAAAGAGAATTTGTTGTAATCCATTTATTGTCTAGATGTGGAAACCAAGGCCCAGAGAAATGAAATGTTTTAAAGCTATCAGCAAGCCCAGGGTTCAAGCATACTTTTTCAGATAGTAACCATTTTATAGGCCCTGAAACCCTGCATTGTCTGTCACAACGACTCGACTCTGCAGCTGTAGCATAAAACCAACCTTGGATAATACATACATGAATGGGCATAGCTGTGTTTCAATAAAACTTTATTTACAAAAATAGGCAGTGGACTGAATTTGGCCTGTGAACCATGATTTGCTGACTTCTGATCTAGACCAGTGGCTCACACTGGATGGGGAACTACCTTCACAGAGATGATACTAATGATAATAACTATCCTTGATTGAGTGTTCATTGTGTGCTAGGCACTTTCCATGAAATAGCTCATTTCATTCTTATAATAACCCCGTTCAGTGCTATTAGCTCCATTGAACAGATGCGGACACTTGGGTTTCCACAGCTAGTAAGTGGAAGAGCCAGCATTTTAACCCAGGTCTGTGTGACCCAAGAACATGAGCTCTTAAGGCTGTGTTAAAAATCAGATTTGGCTGGGTATGGTGCCTCATGTCTGTAATCCCAGCACTTTGGGAGACCTAGGCAGGAGGATCGTTTGAGGCCAGGAGTTCGAGTCTAGCCTGGGCAACATAGTGAGACTCTGTCTCTATAGAAGAACAAAGGGGAAAAAAATCAGATGAAAGCTAACCTTTTGCTAGAAAAATGCCTAGACACTCAAGATTTTGCAGGTAATTCCTAGGGAGGCACAGACATTCTGGGCCCATGTTAACTCCTGATTGGAACTATGTGCTTTTGGGGGCTAAAGACCTTGGCTTAACTACCTTTGAGTCCCCTGGATCAAGAAGAGAGCTTGGCCCAGAGAAAGGGCTCAATGGATATATGTTGAAATTAATGGAATCTAGGCCAGTAGGCCAGTCTACAGACTATGCAGAAAAGCAAACAGATGTAATCAATTGCTCTGAGGGTCTTTTTTTTTTTTTTCAAAAATACAAATCCAATCACATTACTCCTTTGTTTAATAAATCTCCAGGGCTCCTCATGAAAAAATCCAAACCCCTAAACCTGTCTATTGGGTCCCCTATACCTGTCTTGCTTTTGTAGATTTTCCCTTTCTCTTCCTCTGCCCCTGCTAAGTGGGAAGGGGGGGGCCTGGTCACCATGGTTGTATCATTTGATCCTGCCTGCCAATGATCAGAGCATGAAGTTTGGATAAAAAAATCCAAGTTAAGCCAATCCGTACACTGGGGCTTAGCCAGCCTACCTTTGAGAAATTTGAGTTCAGGAACCCAGGCGGTGAGTGGGTTACGGGAGGGTAAGTCCCTGAATTAAATGTTAAGTAGAATCT
|
GGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAAGAGGGCTATAGAGTTGTTACAAGGAGGTGCTGTGCCCTATGGCTTGGCCAACTTCATGCTGATGGACCTGTCATGGCTCTCAAGGTCTTAGGGAGCCTTCTCTGGAGTCTCTCTTCTCTCTGAGGGCTTTACAGGGCCTTTCTGTTCCAGAGTTCATGCAGAAAAGCTCTGTGGCAGGTAAGCTGAACAGCTCTCCTCTTTGGACCTCACCCAAAAGTCTCTCCTCCAAGGCAGGGCAGTTCAGATGCTCTGATCTCGTGTGCTTCCATGGGCTCCTCCCCCTGGCAACACACGGACGTCAGGGGAGATGTGGTTCTCAAGTTTGCACTTTTCCTGACCACTGGGGCCTTTTCCAGTCAATGCTTCTGTGGAGTAAATACAGTTCTGCCTTAAGAACTTAGGGGAGGTGGGTAAAGGGGAGCTTTCAAAGTGGTTTTTCTCCGATCTTGTCCCCGTGCTGAACTTCGGACTGGTGCTCCCAGGGAGGCTTTTGGGGGGGCTGGAGTCCACACTGTAGAGCAGCTGTCCCTCATCATCTGTGTCTGCGTCAATGTACTGGTGGACACCCGCCTCAAAGTTGAACGCTATTGCTGTGTGTTTCTCAGGAGACCGGGGGGGTGTCTTAGCACTTGCTGTGGTGTAGATGGAGGACTCTGGGCTCAGCACAGCCTTGTCCAAAAGCGTGGCACACTCCAGTCCAGCGACAGCAGCCGCAGCACTCCCCCGGTTCCTGAGAGGGTCATGGTACATCCCTAGAACGGGGAGGAGTGGACTGGGGTCACCCTCCATGAAGTTGACTTTAAGTGCTCGGAGCTTCAAAGGGTTGTTAGTTTTCATGGAACTCTTGGGGCTCTCGATGAAGAAACTAGAGTGCTGGCTGGCATCAGGGCTGGGGTTGGCCTCCACAAACCTACCACCACTGGCACCCAGAGCTCCCCGCCAGCCCACTTCTGGGGCTGTGCTGCCCCCAGTCTTGCTGGGGAGTGATGTCAAAGGGCTGTGGGAGAATCTGGTGGCCTCAGGGAAGTCTGTGGCACAGCTAATGAAACTATCAATGCTTGACATACTTCGCATGTCAATGACCCCTTCTGTGCGAGTGGGCAGAGGGGCTACGGGGCTGGGGATACTCTCCATTTCAAGTTCTTCCTTTGGTTTGCTCTGTGCTGCTGACTCCTTGGTATTGAGGATGGGTTGGGATTGGGTCTTGGCCATCTTATTGTACATGTCTTCCAACTGCTGAACGTTCAGGTGCTGAGGACTAGAAGACGATCTGGCTTTTTCAGGGGATCCCTGTTCCTTGGTTTCAAAGGACTTACTTGAGCTGGTTTCAGACAGTGTCCTCTTTGTCCATTTCCATTTGTTAGGAGACAAGTGGTTATCTTGTACTTTGTCTTTCTTACCCATATTCTCCCCATTTTTCTCAACCACAATGTCCATCATCTCAATGCTCCGGGCAAAAGCATCCTTCATGTTCATGGATACGATGCTGCCATTCCTCTTGGCTCTCTCCAGAGCCTCTCGCCGTTTGATTGCTTTCTCCTGTCTCTTCTGCTCCTTATAGAACTCAGAGAAGTTATTGACGATGATGGGGATGGGAAGAGCAATCACCAGGACTCCTGCAATGCAGCAGAGTCCCCCAACAATTTTCCCCAGGAGAGTCTTGGGGTAGATGTCTCCATACCCAACAGTAGTCATGGTGATGGTGGCCCACCAGAAAGAGGCTGGGATGTTTTGAACTTGGTGTCGTCCTCATCCTTCTCAGCAAAGAAGACAAGGCTGGAGAAGATCATAATGCCCATGGCAAGGAAGAGGATGAGCAAGCCCAACTCATTGTAGCTCCTCCGCAAAGTGAAGCCCAGAGACTGGAGGCCAGTGGAGTGGCGTGCAAGCTTAAGGATGCGGAGAATTCGCATGATGCGGAAGATCTGGACCACGCGGCGGACATTCTGGAATTGCAGCACGCTCTTGTTGGATTCGGTGAGGAAAATGGTGACATAGTATGGCAGAATGGCCAACAAGTCAATGGCATTGAGTGGGCCCTTGAAGAACTTCCACTTCTTGGGCGAGGAGAGGAACCTCAGCAGGTACTCCATGGTGAACCATGCGATGCACACGGCCTCCACGTGGGCCAGCTGGGGGTTGTCTGTGGACTGGCCGAACTCATCGAGGCTCTGTAGCTCAGGCAGCGTGTTGAGGGACAGGGCAATGGTGGAGAGGACGATGAACATGATGGAAATTATGGCAAGGATCTGTGAGGAGAAGAGAGTGGGATTTAGTTATCAACCACCCCACAGGATGATCATCATAATATCCTGGATCTACAGGGCACTCCTCAATGTTCAAGAGCATTTTCACATTTCACTAGTCATTTAATGAGCCAAAAAGAGAATTTGTTGTAATCCATTTATTGTCTAGATGTGGAAACCAAGGCCCAGAGAAATGAAATGTTTTAAAGCTATCAGCAAGCCCAGGGTTCAAGCATACTTTTTCAGATAGTAACCATTTTATAGGCCCTGAAACCCTGCATTGTCTGTCACAACGACTCGACTCTGCAGCTGTAGCATAAAACCAACCTTGGATAATACATACATGAATGGGCATAGCTGTGTTTCAATAAAACTTTATTTACAAAAATAGGCAGTGGACTGAATTTGGCCTGTGAACCATGATTTGCTGACTTCTGATCTAGACCAGTGGCTCACACTGGATGGGGAACTACCTTCACAGAGATGATACTAATGATAATAACTATCCTTGATTGAGTGTTCATTGTGTGCTAGGCACTTTCCATGAAATAGCTCATTTCATTCTTATAATAACCCCGTTCAGTGCTATTAGCTCCATTGAACAGATGCGGACACTTGGGTTTCCACAGCTAGTAAGTGGAAGAGCCAGCATTTTAACCCAGGTCTGTGTGACCCAAGAACATGAGCTCTTAAGGCTGTGTTAAAAATCAGATTTGGCTGGGTATGGTGCCTCATGTCTGTAATCCCAGCACTTTGGGAGACCTAGGCAGGAGGATCGTTTGAGGCCAGGAGTTCGAGTCTAGCCTGGGCAACATAGTGAGACTCTGTCTCTATAGAAGAACAAAGGGGAAAAAAATCAGATGAAAGCTAACCTTTTGCTAGAAAAATGCCTAGACACTCAAGATTTTGCAGGTAATTCCTAGGGAGGCACAGACATTCTGGGCCCATGTTAACTCCTGATTGGAACTATGTGCTTTTGGGGGCTAAAGACCTTGGCTTAACTACCTTTGAGTCCCCTGGATCAAGAAGAGAGCTTGGCCCAGAGAAAGGGCTCAATGGATATATGTTGAAATTAATGGAATCTAGGCCAGTAGGCCAGTCTACAGACTATGCAGAAAAGCAAACAGATGTAATCAATTGCTCTGAGGGTCTTTTTTTTTTTTTTCAAAAATACAAATCCAATCACATTACTCCTTTGTTTAATAAATCTCCAGGGCTCCTCATGAAAAAATCCAAACCCCTAAACCTGTCTATTGGGTCCCCTATACCTGTCTTGCTTTTGTAGATTTTCCCTTTCTCTTCCTCTGCCCCTGCTAAGTGGGAAGGGGGGGGCCTGGTCACCATGGTTGTATCATTTGATCCTGCCTGCCAATGATCAGAGCATGAAGTTTGGATAAAAAAATCCAAGTTAAGCCAATCCGTACACTGGGGCTTAGCCAGCCTACCTTTGAGAAATTTGAGTTCAGGAACCCAGGCGGTGAGTGGGTTACGGGAGGGTAAGTCCCTGAATTAAATGTTAAGTAGAATCTN
|
pathogenic
| 314,612 |
Benign or pathogenic: chromosome 20, position 50891845, gene ADNP (activity dependent neuroprotector homeobox) variant? Disease(s) if pathogenic?
|
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder', 'Inborn_genetic_diseases']
|
GGTAAAAATACCAGCTCCTTCCATCTTTACAGCCCTGTCAGTGCTGTGCTCTTCAAAGCCTTTCCCTTAATAGCAAGAGGGCCAAGAGTGGCAAATAGAGGCAGAGCCGCCTGCACTACAGTTGTTCCCATCGTAAGGTGAAAACGAACGTTTAACTTCATCTAGAAGAAAAAACAAACAAAAAACCCATCAGGCTATTAAGATTCTGCTTGCAAATTAATGCCAATCCATGTTTACATTTTTTTTTTTATCATTGAGACATTTACATATATATGCAGGCTCTGCTCCTTAACAAAAGGTGAACTGAAAAACTCAAGGGTGTTTGTTTTTCAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAACAGATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGT
|
GGTAAAAATACCAGCTCCTTCCATCTTTACAGCCCTGTCAGTGCTGTGCTCTTCAAAGCCTTTCCCTTAATAGCAAGAGGGCCAAGAGTGGCAAATAGAGGCAGAGCCGCCTGCACTACAGTTGTTCCCATCGTAAGGTGAAAACGAACGTTTAACTTCATCTAGAAGAAAAAACAAACAAAAAACCCATCAGGCTATTAAGATTCTGCTTGCAAATTAATGCCAATCCATGTTTACATTTTTTTTTTTATCATTGAGACATTTACATATATATGCAGGCTCTGCTCCTTAACAAAAGGTGAACTGAAAAACTCAAGGGTGTTTGTTTTTCAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAACAGATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTNNNN
|
pathogenic
| 314,686 |
Is the variant located on chromosome 20 at position 50892001, gene ADNP (activity dependent neuroprotector homeobox), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder']
|
TTCATCTAGAAGAAAAAACAAACAAAAAACCCATCAGGCTATTAAGATTCTGCTTGCAAATTAATGCCAATCCATGTTTACATTTTTTTTTTTATCATTGAGACATTTACATATATATGCAGGCTCTGCTCCTTAACAAAAGGTGAACTGAAAAACTCAAGGGTGTTTGTTTTTCAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAACAGATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAG
|
TTCATCTAGAAGAAAAAACAAACAAAAAACCCATCAGGCTATTAAGATTCTGCTTGCAAATTAATGCCAATCCATGTTTACATTTTTTTTTTTATCATTGAGACATTTACATATATATGCAGGCTCTGCTCCTTAACAAAAGGTGAACTGAAAAACTCAAGGGTGTTTGTTTTTCAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAACAGATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCA
|
pathogenic
| 314,695 |
Does the variant impacting ADNP (activity dependent neuroprotector homeobox) on chromosome 20, position 50892214, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder', 'Inborn_genetic_diseases']
|
AACAGATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGG
|
AACAGATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGNNNN
|
pathogenic
| 314,701 |
The chromosome 20, position 50892214 genetic variant in gene ADNP (activity dependent neuroprotector homeobox): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder']
|
AACAGATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGG
|
AACAGATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGNNNNN
|
pathogenic
| 314,702 |
Benign or pathogenic: chromosome 20, position 50892219, gene ADNP (activity dependent neuroprotector homeobox) variant? Disease(s) if pathogenic?
|
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder', 'Inborn_genetic_diseases', 'Intellectual_disability']
|
ATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATC
|
ATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCNNNN
|
pathogenic
| 314,703 |
Regarding the variant found on chromosome 20 at position 50892501 in gene ADNP (activity dependent neuroprotector homeobox): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder']
|
GTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCAC
|
GTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCA
|
pathogenic
| 314,711 |
Is the variant located on chromosome 20 at position 50892516, gene ADNP (activity dependent neuroprotector homeobox), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder']
|
CCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTT
|
CCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTNNNN
|
pathogenic
| 314,712 |
A genetic alteration at chromosome 20, position 50892556, in gene ADNP (activity dependent neuroprotector homeobox)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['ADNP-related_disorder', 'ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder']
|
AATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCA
|
AATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCAN
|
pathogenic
| 314,714 |
A genetic variant on chromosome 20, position 50892557, affects the gene ADNP (activity dependent neuroprotector homeobox). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder', 'Inborn_genetic_diseases', 'Intellectual_disability', 'Neurodevelopmental_disorder']
|
ATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCAT
|
ATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTAGGTAAACTAGATAGAGCGTTTATTACACAGCAAGGGCAACACTAAAAAAAGAAATCTATGATGGGCACACAGTAACAGGATCATGAGCATCACTTGAATAGGTCTAAAAGACTGTACAAATATACATTTCAACTATTCAGAATGAATACATGAAAAAAAATCGCTTTTCCCAAAGTCTACTATACACATTAGACTGGTAGCTTGTATGTTGGCCCTACACTACCATGTGAATTAGTTTAACACTTCTCAAAGACATCTGACCAATCATTTCACAGAGGGAAAGAAATGTTGAAAAGGCAGATAAAATAAACCTCTGCTTTTCCTCGTGTGTATTCATGAGTCACCAGCTTATTGGTTTTTCACATTTAGTTACCGTGTCTGTCAGAGAAGGTTCTGAAGCAAGAACAGCCTGTCCTGTCATAGACTTAGAAATAACCACTGGAACTGCAGCGGCCACATGCCCCACAGTCCAACCAGTACTCACAAGGCAGTACCAGTGAGAAGACAGCTTTGCAGTCACACTGGATATCAGAGTTCCAGGCTGCAGCATGTCACCAACGCCAGGGAACCTGGCACTTAGGCCTGTTGGCTGCTCAGTTTAACTCCGGCTAAGCTGCCATGCATGGGCTCAGCTACTCCATCAGTCATGTTGTCAAACTGTTCCCCATCCTCACTGTCAATTGTGCTATTCTGCCACTCAATCTGGGGGTTAGATAAGCGCTCATCATTCTCAGATGCATTCTTCCACTGTGACTGGTCCTTAGACCAAAACCCTTCAACTTTTCCATAGGAACTATTCTTCCATTTCAACTGCTCTCTGTCACCTTGCATGGTAGCCTTTTTTTTGGCAGCTGGCTTACTGCTCCTTGCATCTTCGCTTTGGGAAGACTCGTCAGACCAGGTTCCTGGTTTCATTTCGCAGGTATTGTCCTCAAAGTCTGACACTTGTTGGGATCCAGGCCCACTCTCAGATGGAGAAGCACCGTCTTTCCACTCAACAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCA
|
pathogenic
| 314,717 |
Is the chromosome 20, position 50893875 variant in ADNP (activity dependent neuroprotector homeobox) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
benign
|
CAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCATTGATTTTAGGCCGCGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCAAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATAAGCTGAGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTTCAGGAGGGTGAGGCAGGAGAATCGCCTGAAGCTGGGAGGTGGAGGTTGCAACGAGCCGAGATCGGCCATTGCACTCCAGCCTGGGCGACAAGAGCGAAACTGTCTCAAAAAAAAGCACTGATTTTAGTATGTTTTCCCCTTTTGTATAGTAACTTTATAAAATAGAAACTCAAAAAAAAAGCTATCTTAAACCAAATATTTTTGTCAGTGTAAATTAAAAAAATGCTAAGTTCTTTCTCAATGTTTAGGGAAAAAAAGTCACATTTTAGCTAAACCAAAGACAAATGACTTGAAGATAAACATTTTGCAGCTAGAAATAACAAGAATAACCTAAATGAAGGAAGTTACTAAAGACTTCAGGTTTACTATACAGTCATGTGTTGCTAAACCACAGGGATGCATTCTGAAAAATGTATCATGGTGTGAAATCCTCAAGTGTGTATTCACACAGACCTAGATGGTAGAACCTACTACACGCCTAGGCTACATGGCATAGCTTATTGCTCTTAGGCTACAAACCTGTACAGCATGTTTCTGTACTGATTACCATAGGCAATGATTAACACAATGGTAAATATTTGTATGTTTAAACATAGCTGAGCACAGAAAAGGTACAGTAAAAATACAATGTAAAAGATAAATGATACCATGAACAAAGCTTACAGGACTAGAAGTTACTCTGGGTGAGTCAATATGAAAGCCTGGGACATTACTGTACACTACTGTAGACTTTATGAACACTTAGGCTACACAAGTTTTACTAAAAAAAAAATTTTGAGACAAAGTCTCACTTTGTTGCTCAGGCTGGAGTGCAGTGGCACAATCGGCTCACTGCAGCCTCAACCTCTTGGGCTCATGCGATCCTCCCACCTCCGCCTCAGTCCTGGGGACTACAGGTGTGTGCCACCACACTAGGGTAAATTTTGTAGAGACAGGGTCTCCCTCTGTTGCCCAGGCTGGCCTTGAACTCCTGGGCTCGAGCAATCCTCCCGCTTTGGCTTCCCAAAGTGCTGGGATTGCAAGCCGCTGTGCCGAGCCCTAAAAAATATTTTTTCTTCAATAATAACCTCAGCTTGCTGTGGTTTATACACTTTTAAATTTTTAACTTTTTGACTCTTTTGTAGTAATACTTA
|
CAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCATTGATTTTAGGCCGCGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCAAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATAAGCTGAGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTTCAGGAGGGTGAGGCAGGAGAATCGCCTGAAGCTGGGAGGTGGAGGTTGCAACGAGCCGAGATCGGCCATTGCACTCCAGCCTGGGCGACAAGAGCGAAACTGTCTCAAAAAAAAGCACTGATTTTAGTATGTTTTCCCCTTTTGTATAGTAACTTTATAAAATAGAAACTCAAAAAAAAAGCTATCTTAAACCAAATATTTTTGTCAGTGTAAATTAAAAAAATGCTAAGTTCTTTCTCAATGTTTAGGGAAAAAAAGTCACATTTTAGCTAAACCAAAGACAAATGACTTGAAGATAAACATTTTGCAGCTAGAAATAACAAGAATAACCTAAATGAAGGAAGTTACTAAAGACTTCAGGTTTACTATACAGTCATGTGTTGCTAAACCACAGGGATGCATTCTGAAAAATGTATCATGGTGTGAAATCCTCAAGTGTGTATTCACACAGACCTAGATGGTAGAACCTACTACACGCCTAGGCTACATGGCATAGCTTATTGCTCTTAGGCTACAAACCTGTACAGCATGTTTCTGTACTGATTACCATAGGCAATGATTAACACAATGGTAAATATTTGTATGTTTAAACATAGCTGAGCACAGAAAAGGTACAGTAAAAATACAATGTAAAAGATAAATGATACCATGAACAAAGCTTACAGGACTAGAAGTTACTCTGGGTGAGTCAATATGAAAGCCTGGGACATTACTGTACACTACTGTAGACTTTATGAACACTTAGGCTACACAAGTTTTACTAAAAAAAAAATTTTGAGACAAAGTCTCACTTTGTTGCTCAGGCTGGAGTGCAGTGGCACAATCGGCTCACTGCAGCCTCAACCTCTTGGGCTCATGCGATCCTCCCACCTCCGCCTCAGTCCTGGGGACTACAGGTGTGTGCCACCACACTAGGGTAAATTTTGTAGAGACAGGGTCTCCCTCTGTTGCCCAGGCTGGCCTTGAACTCCTGGGCTCGAGCAATCCTCCCGCTTTGGCTTCCCAAAGTGCTGGGATTGCAAGCCGCTGTGCCGAGCCCTAAAAAATATTTTTTCTTCAATAATAACCTCAGCTTGCTGTGGTTTATACACTTTTAAATTTTTAACTTTTTGACTCTTTTGTAGTAATACTTANNN
|
benign
| 314,750 |
Does the variant impacting ADNP (activity dependent neuroprotector homeobox) on chromosome 20, position 50894057, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder']
|
TTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCATTGATTTTAGGCCGCGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCAAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATAAGCTGAGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTTCAGGAGGGTGAGGCAGGAGAATCGCCTGAAGCTGGGAGGTGGAGGTTGCAACGAGCCGAGATCGGCCATTGCACTCCAGCCTGGGCGACAAGAGCGAAACTGTCTCAAAAAAAAGCACTGATTTTAGTATGTTTTCCCCTTTTGTATAGTAACTTTATAAAATAGAAACTCAAAAAAAAAGCTATCTTAAACCAAATATTTTTGTCAGTGTAAATTAAAAAAATGCTAAGTTCTTTCTCAATGTTTAGGGAAAAAAAGTCACATTTTAGCTAAACCAAAGACAAATGACTTGAAGATAAACATTTTGCAGCTAGAAATAACAAGAATAACCTAAATGAAGGAAGTTACTAAAGACTTCAGGTTTACTATACAGTCATGTGTTGCTAAACCACAGGGATGCATTCTGAAAAATGTATCATGGTGTGAAATCCTCAAGTGTGTATTCACACAGACCTAGATGGTAGAACCTACTACACGCCTAGGCTACATGGCATAGCTTATTGCTCTTAGGCTACAAACCTGTACAGCATGTTTCTGTACTGATTACCATAGGCAATGATTAACACAATGGTAAATATTTGTATGTTTAAACATAGCTGAGCACAGAAAAGGTACAGTAAAAATACAATGTAAAAGATAAATGATACCATGAACAAAGCTTACAGGACTAGAAGTTACTCTGGGTGAGTCAATATGAAAGCCTGGGACATTACTGTACACTACTGTAGACTTTATGAACACTTAGGCTACACAAGTTTTACTAAAAAAAAAATTTTGAGACAAAGTCTCACTTTGTTGCTCAGGCTGGAGTGCAGTGGCACAATCGGCTCACTGCAGCCTCAACCTCTTGGGCTCATGCGATCCTCCCACCTCCGCCTCAGTCCTGGGGACTACAGGTGTGTGCCACCACACTAGGGTAAATTTTGTAGAGACAGGGTCTCCCTCTGTTGCCCAGGCTGGCCTTGAACTCCTGGGCTCGAGCAATCCTCCCGCTTTGGCTTCCCAAAGTGCTGGGATTGCAAGCCGCTGTGCCGAGCCCTAAAAAATATTTTTTCTTCAATAATAACCTCAGCTTGCTGTGGTTTATACACTTTTAAATTTTTAACTTTTTGACTCTTTTGTAGTAATACTTAGCTTAAAACACAAACAGATTGGCCAGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGCGGGTGGATCACCTGAGGTCAAGAGCTTGAGACCAGCCTGACCAACATGGTGAAACCCTACCTTTACTGAAAATAAAAAAAATAGCTGCACATGGTGGCAGGCACCTGTA
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TTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCATTGATTTTAGGCCGCGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCAAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATAAGCTGAGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTTCAGGAGGGTGAGGCAGGAGAATCGCCTGAAGCTGGGAGGTGGAGGTTGCAACGAGCCGAGATCGGCCATTGCACTCCAGCCTGGGCGACAAGAGCGAAACTGTCTCAAAAAAAAGCACTGATTTTAGTATGTTTTCCCCTTTTGTATAGTAACTTTATAAAATAGAAACTCAAAAAAAAAGCTATCTTAAACCAAATATTTTTGTCAGTGTAAATTAAAAAAATGCTAAGTTCTTTCTCAATGTTTAGGGAAAAAAAGTCACATTTTAGCTAAACCAAAGACAAATGACTTGAAGATAAACATTTTGCAGCTAGAAATAACAAGAATAACCTAAATGAAGGAAGTTACTAAAGACTTCAGGTTTACTATACAGTCATGTGTTGCTAAACCACAGGGATGCATTCTGAAAAATGTATCATGGTGTGAAATCCTCAAGTGTGTATTCACACAGACCTAGATGGTAGAACCTACTACACGCCTAGGCTACATGGCATAGCTTATTGCTCTTAGGCTACAAACCTGTACAGCATGTTTCTGTACTGATTACCATAGGCAATGATTAACACAATGGTAAATATTTGTATGTTTAAACATAGCTGAGCACAGAAAAGGTACAGTAAAAATACAATGTAAAAGATAAATGATACCATGAACAAAGCTTACAGGACTAGAAGTTACTCTGGGTGAGTCAATATGAAAGCCTGGGACATTACTGTACACTACTGTAGACTTTATGAACACTTAGGCTACACAAGTTTTACTAAAAAAAAAATTTTGAGACAAAGTCTCACTTTGTTGCTCAGGCTGGAGTGCAGTGGCACAATCGGCTCACTGCAGCCTCAACCTCTTGGGCTCATGCGATCCTCCCACCTCCGCCTCAGTCCTGGGGACTACAGGTGTGTGCCACCACACTAGGGTAAATTTTGTAGAGACAGGGTCTCCCTCTGTTGCCCAGGCTGGCCTTGAACTCCTGGGCTCGAGCAATCCTCCCGCTTTGGCTTCCCAAAGTGCTGGGATTGCAAGCCGCTGTGCCGAGCCCTAAAAAATATTTTTTCTTCAATAATAACCTCAGCTTGCTGTGGTTTATACACTTTTAAATTTTTAACTTTTTGACTCTTTTGTAGTAATACTTAGCTTAAAACACAAACAGATTGGCCAGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGCGGGTGGATCACCTGAGGTCAAGAGCTTGAGACCAGCCTGACCAACATGGTGAAACCCTACCTTTACTGAAAATAAAAAAAATAGCTGCACATGGTGGCAGGCACCTGTANN
|
pathogenic
| 314,755 |
Considering the variant on chromosome 20, location 50894171, involving gene ADNP (activity dependent neuroprotector homeobox), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder', 'Inborn_genetic_diseases']
|
TTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCATTGATTTTAGGCCGCGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCAAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATAAGCTGAGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTTCAGGAGGGTGAGGCAGGAGAATCGCCTGAAGCTGGGAGGTGGAGGTTGCAACGAGCCGAGATCGGCCATTGCACTCCAGCCTGGGCGACAAGAGCGAAACTGTCTCAAAAAAAAGCACTGATTTTAGTATGTTTTCCCCTTTTGTATAGTAACTTTATAAAATAGAAACTCAAAAAAAAAGCTATCTTAAACCAAATATTTTTGTCAGTGTAAATTAAAAAAATGCTAAGTTCTTTCTCAATGTTTAGGGAAAAAAAGTCACATTTTAGCTAAACCAAAGACAAATGACTTGAAGATAAACATTTTGCAGCTAGAAATAACAAGAATAACCTAAATGAAGGAAGTTACTAAAGACTTCAGGTTTACTATACAGTCATGTGTTGCTAAACCACAGGGATGCATTCTGAAAAATGTATCATGGTGTGAAATCCTCAAGTGTGTATTCACACAGACCTAGATGGTAGAACCTACTACACGCCTAGGCTACATGGCATAGCTTATTGCTCTTAGGCTACAAACCTGTACAGCATGTTTCTGTACTGATTACCATAGGCAATGATTAACACAATGGTAAATATTTGTATGTTTAAACATAGCTGAGCACAGAAAAGGTACAGTAAAAATACAATGTAAAAGATAAATGATACCATGAACAAAGCTTACAGGACTAGAAGTTACTCTGGGTGAGTCAATATGAAAGCCTGGGACATTACTGTACACTACTGTAGACTTTATGAACACTTAGGCTACACAAGTTTTACTAAAAAAAAAATTTTGAGACAAAGTCTCACTTTGTTGCTCAGGCTGGAGTGCAGTGGCACAATCGGCTCACTGCAGCCTCAACCTCTTGGGCTCATGCGATCCTCCCACCTCCGCCTCAGTCCTGGGGACTACAGGTGTGTGCCACCACACTAGGGTAAATTTTGTAGAGACAGGGTCTCCCTCTGTTGCCCAGGCTGGCCTTGAACTCCTGGGCTCGAGCAATCCTCCCGCTTTGGCTTCCCAAAGTGCTGGGATTGCAAGCCGCTGTGCCGAGCCCTAAAAAATATTTTTTCTTCAATAATAACCTCAGCTTGCTGTGGTTTATACACTTTTAAATTTTTAACTTTTTGACTCTTTTGTAGTAATACTTAGCTTAAAACACAAACAGATTGGCCAGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGCGGGTGGATCACCTGAGGTCAAGAGCTTGAGACCAGCCTGACCAACATGGTGAAACCCTACCTTTACTGAAAATAAAAAAAATAGCTGCACATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACAGCACAGCACTCTAGCCTGGGCAACACAGCGAGACTC
|
TTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCATTGATTTTAGGCCGCGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCAAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATAAGCTGAGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTTCAGGAGGGTGAGGCAGGAGAATCGCCTGAAGCTGGGAGGTGGAGGTTGCAACGAGCCGAGATCGGCCATTGCACTCCAGCCTGGGCGACAAGAGCGAAACTGTCTCAAAAAAAAGCACTGATTTTAGTATGTTTTCCCCTTTTGTATAGTAACTTTATAAAATAGAAACTCAAAAAAAAAGCTATCTTAAACCAAATATTTTTGTCAGTGTAAATTAAAAAAATGCTAAGTTCTTTCTCAATGTTTAGGGAAAAAAAGTCACATTTTAGCTAAACCAAAGACAAATGACTTGAAGATAAACATTTTGCAGCTAGAAATAACAAGAATAACCTAAATGAAGGAAGTTACTAAAGACTTCAGGTTTACTATACAGTCATGTGTTGCTAAACCACAGGGATGCATTCTGAAAAATGTATCATGGTGTGAAATCCTCAAGTGTGTATTCACACAGACCTAGATGGTAGAACCTACTACACGCCTAGGCTACATGGCATAGCTTATTGCTCTTAGGCTACAAACCTGTACAGCATGTTTCTGTACTGATTACCATAGGCAATGATTAACACAATGGTAAATATTTGTATGTTTAAACATAGCTGAGCACAGAAAAGGTACAGTAAAAATACAATGTAAAAGATAAATGATACCATGAACAAAGCTTACAGGACTAGAAGTTACTCTGGGTGAGTCAATATGAAAGCCTGGGACATTACTGTACACTACTGTAGACTTTATGAACACTTAGGCTACACAAGTTTTACTAAAAAAAAAATTTTGAGACAAAGTCTCACTTTGTTGCTCAGGCTGGAGTGCAGTGGCACAATCGGCTCACTGCAGCCTCAACCTCTTGGGCTCATGCGATCCTCCCACCTCCGCCTCAGTCCTGGGGACTACAGGTGTGTGCCACCACACTAGGGTAAATTTTGTAGAGACAGGGTCTCCCTCTGTTGCCCAGGCTGGCCTTGAACTCCTGGGCTCGAGCAATCCTCCCGCTTTGGCTTCCCAAAGTGCTGGGATTGCAAGCCGCTGTGCCGAGCCCTAAAAAATATTTTTTCTTCAATAATAACCTCAGCTTGCTGTGGTTTATACACTTTTAAATTTTTAACTTTTTGACTCTTTTGTAGTAATACTTAGCTTAAAACACAAACAGATTGGCCAGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGCGGGTGGATCACCTGAGGTCAAGAGCTTGAGACCAGCCTGACCAACATGGTGAAACCCTACCTTTACTGAAAATAAAAAAAATAGCTGCACATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACAGCACAGCACTCTAGCCTGGGCAACACAGCGAGACTCNNNN
|
pathogenic
| 314,758 |
Variant in gene ADNP (activity dependent neuroprotector homeobox), located at chromosome 20 position 50894289: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
benign
|
CCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCATTGATTTTAGGCCGCGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCAAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATAAGCTGAGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTTCAGGAGGGTGAGGCAGGAGAATCGCCTGAAGCTGGGAGGTGGAGGTTGCAACGAGCCGAGATCGGCCATTGCACTCCAGCCTGGGCGACAAGAGCGAAACTGTCTCAAAAAAAAGCACTGATTTTAGTATGTTTTCCCCTTTTGTATAGTAACTTTATAAAATAGAAACTCAAAAAAAAAGCTATCTTAAACCAAATATTTTTGTCAGTGTAAATTAAAAAAATGCTAAGTTCTTTCTCAATGTTTAGGGAAAAAAAGTCACATTTTAGCTAAACCAAAGACAAATGACTTGAAGATAAACATTTTGCAGCTAGAAATAACAAGAATAACCTAAATGAAGGAAGTTACTAAAGACTTCAGGTTTACTATACAGTCATGTGTTGCTAAACCACAGGGATGCATTCTGAAAAATGTATCATGGTGTGAAATCCTCAAGTGTGTATTCACACAGACCTAGATGGTAGAACCTACTACACGCCTAGGCTACATGGCATAGCTTATTGCTCTTAGGCTACAAACCTGTACAGCATGTTTCTGTACTGATTACCATAGGCAATGATTAACACAATGGTAAATATTTGTATGTTTAAACATAGCTGAGCACAGAAAAGGTACAGTAAAAATACAATGTAAAAGATAAATGATACCATGAACAAAGCTTACAGGACTAGAAGTTACTCTGGGTGAGTCAATATGAAAGCCTGGGACATTACTGTACACTACTGTAGACTTTATGAACACTTAGGCTACACAAGTTTTACTAAAAAAAAAATTTTGAGACAAAGTCTCACTTTGTTGCTCAGGCTGGAGTGCAGTGGCACAATCGGCTCACTGCAGCCTCAACCTCTTGGGCTCATGCGATCCTCCCACCTCCGCCTCAGTCCTGGGGACTACAGGTGTGTGCCACCACACTAGGGTAAATTTTGTAGAGACAGGGTCTCCCTCTGTTGCCCAGGCTGGCCTTGAACTCCTGGGCTCGAGCAATCCTCCCGCTTTGGCTTCCCAAAGTGCTGGGATTGCAAGCCGCTGTGCCGAGCCCTAAAAAATATTTTTTCTTCAATAATAACCTCAGCTTGCTGTGGTTTATACACTTTTAAATTTTTAACTTTTTGACTCTTTTGTAGTAATACTTAGCTTAAAACACAAACAGATTGGCCAGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGCGGGTGGATCACCTGAGGTCAAGAGCTTGAGACCAGCCTGACCAACATGGTGAAACCCTACCTTTACTGAAAATAAAAAAAATAGCTGCACATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACAGCACAGCACTCTAGCCTGGGCAACACAGCGAGACTCCGTCTCAGAAACAAACAAAAACCCCCAAAACAAACACATTGTACAGCCGTACAAAAATATTTTCTATCTTCATATGCCTATTCTATAAGCTTAAAAAAATTTGTTTTAAAAAAAAACT
|
CCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAAGTGCGCTTCACAGGTGCCAGACTTGGAGACTGATTAAGCCGAGAGGGTGCATTTGTCTTATCCTGGCCATTTTGGGTCTTTCCAACGCCCCTGCAGTGAACTAGATGCAGAGTGATAGTTGAGGCGGTCATGTTGCTGGTATACACACCAAGGCAATGGATACATTTGTAGGTGAGCTTTTTCTCAACTGGATGAACCGTCTGAATAACTTGGTGCCTCTCTCGTAAGTGATGTGCAAGTGCATCAGATATGGGTCCTTTTAGGATTGAAAAGCAAAGAGGACAAAGGGTTTTCCCAACATCTTTTTTATAGGGCACTGCAGCTTGAGGTGAACTTTTTACAGGGATATCTGCCTTTTCCTGAACCTTTGGCTGTGGCTTTGGAGGAACTGGAGGATTATTTTGGGCATGGTAAGCAACAGATTCAGCTGGGGCATCCCTCAGATTGTATGTAGTTACCAGGAGATGGATGTTAGTGTGACTACCCTGCTGCAATGTCAAATCAAAACTCAAAGTAGAATCTGTTTTAGGTCCCATCTCTTCATCAATGTGAACCATCCGCATGTGTGCGGCCATCTTTTCCACATCATTGAAAGTTGAACGGCAATATGGACAAGACAGACCATGAATTAACATATGGTTGAGCAGAGTATCTGTGGGTAAATAGCGATTACAGTAGAGGCATTTGCTAGTAAAATTGTGTATTTTCATAATGTAGTTGGCTACTGCTGGGACTTTCTCAGCTTTATGTTCTTTTTCGAAGTGCACACTATAGACATTTTCAGGAAAAAGCTCATTACAGATTGTACATATTTTCCACTTTTGAGTTGAGGAAGTGTTACCTGGGGGAGGGCCTGTGGCAGCTGCAGCAGGTTTGGAACTGGACTGACCTAACACTCTGGATGCCTGTGACTGAGAGAGGGAAGGAGACTTTAACTGGCCCGATGAGAGAGAAGAGGCATTAGCAGACTGCAGGGAGTATCTTGCTGGTGCCTGGGACCTCTGCTCTGACCCAAGCCCATAAGACCTTCCGTTTCCACTTGGAAGTAACTGCTTTACAGACTGAGATTGTTGAGGAATGGAAACTGGTGCGTTGCCACCTAGACCCAGTCTCATTGACTGACCAACACTGTAACCCTGGCCTACAGATTTGACTCCATAGTTGTTCTGCTGCAGATGAACACTGGACATCATGTTGACTCCTGTAGAATTTAAGTTAGGCTTTGGTATTGAGAGTCGATTCACCATCTGCTGTGATGGTAAAGACCGGACATTTCCAGAAGCAAGGGAACCGATCCTTGGTGGGAGTCCCATGCTCTTCTTGTCTTGAGGTTTGGGAGCAATTAGCATCAAGGGTTTGGATCGGGGAACCACTACATTTGTGTGCCCAATCATGGCAGTGACCTGATAGCCTATACGTTCATGGTCTTCGATGACATGCTGTACCAAAGCTTCATAGGACTTTGGCATGAAAAGGCATCGCTTGCAGTGAATACTACTCTCTTCTCGGGCATTCGAGCCTAAGGGGACTGCCCCATTGAGTGATTTTTCTCCTGCCTTTGCTATGTAAGGTGCTGCCACATGCTGAAAATGTTCCCTGTAAATGTGCTTCCTAACTATTTCATAAAGAGGATCTCGGTAAGTGCACTTCTTACAGTAATAAACAGCTTGCTCTACACTGTCAGCCTGCTTAGGTTTAAGGCCATCATTTTTGTTTTTATCTTTGAAAGTGCTGCTGAGGCTGCTACTTGGTGCGCTGGCGTTCGGAGCATGAAATATTTTAATGTGTGTTTCCAAAGTCTTTTTGTCTGCATTGAAGGTACAGTAGGGGCAATTAAGGAGAATCCTATTTTCAAAGTCTTCACTATGGACATTGCGGAAATGACTTTTGTAGGCAGAGAAGAATTTTGAGGAAAATGGACAAGCGCTGCAGCAGAAAGGTTTTGTCCGATAGTCCTAAAGTAAACACAAAAACTAGAATTAGAATGCCACTTCAGATAGGCAGTTAACAGATTCCAGATCCCCCCCGGATATTCTTAATAATGCATTGATTTTAGGCCGCGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCCAAGGTCAGGAGTTCAAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCAACTAAAAATACAAAAAAATAAGCTGAGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTTCAGGAGGGTGAGGCAGGAGAATCGCCTGAAGCTGGGAGGTGGAGGTTGCAACGAGCCGAGATCGGCCATTGCACTCCAGCCTGGGCGACAAGAGCGAAACTGTCTCAAAAAAAAGCACTGATTTTAGTATGTTTTCCCCTTTTGTATAGTAACTTTATAAAATAGAAACTCAAAAAAAAAGCTATCTTAAACCAAATATTTTTGTCAGTGTAAATTAAAAAAATGCTAAGTTCTTTCTCAATGTTTAGGGAAAAAAAGTCACATTTTAGCTAAACCAAAGACAAATGACTTGAAGATAAACATTTTGCAGCTAGAAATAACAAGAATAACCTAAATGAAGGAAGTTACTAAAGACTTCAGGTTTACTATACAGTCATGTGTTGCTAAACCACAGGGATGCATTCTGAAAAATGTATCATGGTGTGAAATCCTCAAGTGTGTATTCACACAGACCTAGATGGTAGAACCTACTACACGCCTAGGCTACATGGCATAGCTTATTGCTCTTAGGCTACAAACCTGTACAGCATGTTTCTGTACTGATTACCATAGGCAATGATTAACACAATGGTAAATATTTGTATGTTTAAACATAGCTGAGCACAGAAAAGGTACAGTAAAAATACAATGTAAAAGATAAATGATACCATGAACAAAGCTTACAGGACTAGAAGTTACTCTGGGTGAGTCAATATGAAAGCCTGGGACATTACTGTACACTACTGTAGACTTTATGAACACTTAGGCTACACAAGTTTTACTAAAAAAAAAATTTTGAGACAAAGTCTCACTTTGTTGCTCAGGCTGGAGTGCAGTGGCACAATCGGCTCACTGCAGCCTCAACCTCTTGGGCTCATGCGATCCTCCCACCTCCGCCTCAGTCCTGGGGACTACAGGTGTGTGCCACCACACTAGGGTAAATTTTGTAGAGACAGGGTCTCCCTCTGTTGCCCAGGCTGGCCTTGAACTCCTGGGCTCGAGCAATCCTCCCGCTTTGGCTTCCCAAAGTGCTGGGATTGCAAGCCGCTGTGCCGAGCCCTAAAAAATATTTTTTCTTCAATAATAACCTCAGCTTGCTGTGGTTTATACACTTTTAAATTTTTAACTTTTTGACTCTTTTGTAGTAATACTTAGCTTAAAACACAAACAGATTGGCCAGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCCAGGCGGGTGGATCACCTGAGGTCAAGAGCTTGAGACCAGCCTGACCAACATGGTGAAACCCTACCTTTACTGAAAATAAAAAAAATAGCTGCACATGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACAGCACAGCACTCTAGCCTGGGCAACACAGCGAGACTCCGTCTCAGAAACAAACAAAAACCCCCAAAACAAACACATTGTACAGCCGTACAAAAATATTTTCTATCTTCATATGCCTATTCTATAAGCTTAAAAAAATTTGTTTTAAAAAAAA
|
benign
| 314,762 |
The mutation in gene ADNP (activity dependent neuroprotector homeobox) at chromosome 20, position 50902027—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder']
|
AAGCTAAGTGTTATTACAAAAGATTCAGAAGTTAAGAATTTTAAAGTTTTACTTTTTATGTAGCCTAAGTGTGTTTATAAAGTCTACAGTGATGTACAATAATGTCCCTTCATATTCAGTCACCACTCAGAGCAACTTCCAGTCCCGCAAGTGCCCAATATAGGTGTACCAATTTTTCTTTTATATTGCATTTTTACTGTACCTTTTCTATGCTTCACTATGTTTAGAAACACAAATACTTACCATTGTGTTAATCACTCTTATAGTATTCAGTATATAGTATTCTCTTATAGTAACATGCCATACAAGTTTGTAGCCTAGGAGCAACAGGCCATACCATATAGCGTAGGGGTAATAGGAGGCTATACCACCTAGGTCTGTGTAAGTACCCTTTATGATGTTTGTACAACAATGACATCACCTAACAGGGCATTTCTCAGAATGCATCCCATCATTAAGCAATGCACGACGGTATTATACGCTGTAAATAACTGTATGTGCTATACTTCTATGACTGGCAGCACAGGTGTGTTTACATTAGTATCACTACAAACATGAATCATATGTTGCGCTATGATGTCATAAGGTAGCAAGTTTTTCAGCTCAATTATATTCTTATGGGACCACTGTCGTAGATGTAGTTCATCACTGACCAAAATGTCGTTATGTGGTGAATGACTGCGGTAAAATTCAGGGCCCACGATGTTTTAGTGCAATTAGACAATTACAAGAGATAAAGCTATATCTTTTATTCCTTTCCTCATTATGGATAAATTTTCATAGAAAAAAGGCAAATCTCCATTTTTTCCTCTGATTAAAGTACAGTGTAGTATCAGATTCAGCGCTGATCAAAAGAAAGACTGATTTGAAAAGTTGGCTTTCTTCTATAAGCCTTGCTGTTCCTTCTCAACCAAGAACACTTCAAAAGAGCTAATGAAGTAATAGCTGCTTTGATTCAAATCAAGAAGTTAAATAAAAATGTCCTACAGACTGTGAGGAGGGTGAGGTATTTAAAAGCCAATAATACATTATAGAATATACTGATATCAAAGAGCAACTTTCAGAATTATGATTGTTAACACCTATGCAGTCAGTCCTTTGATGAAGGCAGGTGAACTGACATGCTTGGTAAGAGATTATCTTTTCTCCCTAGAAACCTACTTGTTTCAGATACTGGTTTGAACCATGATGAAATACTCTGCTTCTCCTCAAAGCTCAACTCTTCTTTAGTATTCAGCTATGAGGCTTTCAGATTGATAAAACTGAATTAAATAAATGATGTGTCCCACTGGAAAGCATTCTCATTCTAAGACTGCTGGTTAGTAACTTTGCCTGGGGTATTTAAAAAAAAAAAAAAAAAAAAAAAAAAGTCAAATATCTGAGTACTAATTTCCTGAAAAGTATGTTCCGATAGATGAACAGATCATTAATGCAGAATGAGAATCACTCCTAAAATAGGTAATGGTAAAAATTAAATTGACAATTACCTCTCTCTATGCAGAAGGAAATATCACCTATATGACATCATCATCATCTATTGATACTTGCTGGCAGTGCTAATATTGTTTTTAATGCCAATTTGTAAGAAGTTTTATCTCTCTGTCACTGACATCCTACAGAGTCACTTCCCCAGGCCTCCCATAGAAGTTGGGTGCCATCAACATAGGGAAATAAGAAAAGCTTAAATGTAAGGAAGGGTCTTGTCTTTTTCTGTGCAGAAAAAACAAGAATGGCAACACAGATGCAGAAAAATAGAGCCAGAGCACTTTTAGGGGAAATGGTGGGATACAGCAGGCTTCGTAACTTTTAAGTAACAAAATTTTGTTTCTTCTTACACCTCAAGTTTTAGTCCAATGACAAAAAAGGACAAAAAGTTTTTCTTAGTCTTCCCACTGGTCAGGAAAATATGAAATGCAATTTTGACACTTTCGATGTTTGGCACTTGCCCGCAATCACTGCACCGCTATAAAAGGCCTAGAGCTGAAAAGGGAGTATACCAAGCATGCTGCCATCTGAGGAAGTCTCCTGTGCCACTTACCTGGTTTTTCGTAAGTGATGGGTCCCACAGTCCTACATCCTCCCATGTAGTGTTTTTCAAATAAAAGTCATTAGGTTCAAATTGTTTAAAATCCTAGAAAACAGTGAAATAAGTTTACAAAAACATAGTGGTATAAACGCTAACCCAATCTTACATGTAAATCTCACCTCTTAACTAAGATGGGGAGAGGCACAGGAAAACCAACGTCAACAAGGACTTAAACTAGGAGTGATAAGGCTCTTAAATATAAAAAGGCATATGGAAGTTGCAGTCTACATTTTATATCAACCAACCACTTTCCTGATGGTCAGTCAGGTTTCCAAGGAAATTGCTGGAAGTTCTAATTAAGTAAAAAATTCAGCCACACACTAATATCAAAGCACTTTTCATTAGAGTACTGTACTCTAACTCGTCAGTTACAGTACTGGAATGGTGTCTAAAATAGCAATGTTTGCTTACAGCACTGCAAATATGATTTCTGGTTCTGTGCAAAAAAAAGATTTTTTTCGAGGGGAGGGGGCAGGAGATCAGATCAGGAAGAAAACTCAAATTTCAAACCCAAAAAGGCAGAAAGAAAGCTATTCAAAGAAAGTTAAGCAGTATGATGTTAAATTTATACTCTCATGTAAAAATTTAATGGTCCACTTCCCTCCAGACTAGGAAGATTAAAAGTCTTAGGGTAAAATCCCACTTGTTCCTAAAAAGTTCACAGTTCAAGGTGGAAAATGAAGTCTACACATAAATAATCATAGGAGGAACAAATCAAATGCATGACAGAAATGTACTGTGATGTTGGTATTAATTATTTCTATGAAGATGACCCCACAGAGTGCAAAGTGAATGGACTGTTTCATTTGGGCAGATCTACCTGAACTCTGGGGTTGGAGAAGGGCTACTTCCACACTTGGAACAACGTGACTAGAGAAGTCAACTTTTGAGCAGCTTCTGTTTCCATGCCATACTCTTCAAGTATTATTAGTGGAACTCAAATTAAGAAAACCTGTTGTATGAATGAATTTGCTTTTTTACTTCCAATTCCATTCAAACACTTACTGATCACCTATTACGTGCAAAACACTGTGCTAGGTGCTGGGGCTAAATGGATAAACAAGGTAGCTATGTTCCCTAGCCACCTAGAACTTAAAGGTTAGTGGGGGAAACAGCTTCAAACATTTCTTTTCAATCAGGGGCTCTGACCAACAAACCATAAGACCTGGAACAGTGAGATGTTGAAAAGGAGACCACTGCATGGCTATCCCACAGAGCTGTTATAAAGCTCATAGAATAAAACAGCTTGAAAAACAGTTCATAAAGCCCAAACTGTTATACAAGGGGGAAAGTAATAGTCTATGATGGGTCAAAAGGGGCAACAAATGCTCAAATCCTAAGGAAAGAGACAACAAGCACCCACACAAGCACGCCTCAACAATTAGAAGAAGGTCAACCAGAACATTCAGGCGTATCAGAATGAGAACAGGCTTTGAGTCCCACAGACACTGCCACTTTCTCAGCTGCAAGGCTGGGCCTATTTATTTGTTCTTCATCTGTGAAGTGGAGATAAGAACTGCTACACTGCCTCCCGCCTCCATGGTTGTTCTAAGGATTAAATGTATAGACAACTTTACGGCACCTAGTTCAACGCCTGACATGCTTAAGTCCTCAATGGTAGCCTTCTGCTTCAGGATGCAAAAATGAAAAAGCCCATTTTAGGGAGAAAGGCACAAGTTAATGCTATTGAGAATGTTTTCGTGAAGCTACTGCTGTGGCTGAAATTCAGAATCACATCTAAGATTTAGCCATCTTGGCCACTGACACAAAGTAATGGATCAGAAGCTGAGTCATGTTAAAATTTAAAAATGACATGCTACTTACTTCTATATGTTCTTTACAGTATTCCAACCCAATGTCACTAAGTATTTTTTTCACAGTTTTCCGGGCTTTTCTTAAACTGCCAAGATTGTTGACAGGAAGTTGGAACATAGTTTCTATTGGAAAAAAAAATTTAAGTCAAAGTCAAAACACGTACAACTTGTAATATTTACTAATTCCACTGATGAT
|
AAGCTAAGTGTTATTACAAAAGATTCAGAAGTTAAGAATTTTAAAGTTTTACTTTTTATGTAGCCTAAGTGTGTTTATAAAGTCTACAGTGATGTACAATAATGTCCCTTCATATTCAGTCACCACTCAGAGCAACTTCCAGTCCCGCAAGTGCCCAATATAGGTGTACCAATTTTTCTTTTATATTGCATTTTTACTGTACCTTTTCTATGCTTCACTATGTTTAGAAACACAAATACTTACCATTGTGTTAATCACTCTTATAGTATTCAGTATATAGTATTCTCTTATAGTAACATGCCATACAAGTTTGTAGCCTAGGAGCAACAGGCCATACCATATAGCGTAGGGGTAATAGGAGGCTATACCACCTAGGTCTGTGTAAGTACCCTTTATGATGTTTGTACAACAATGACATCACCTAACAGGGCATTTCTCAGAATGCATCCCATCATTAAGCAATGCACGACGGTATTATACGCTGTAAATAACTGTATGTGCTATACTTCTATGACTGGCAGCACAGGTGTGTTTACATTAGTATCACTACAAACATGAATCATATGTTGCGCTATGATGTCATAAGGTAGCAAGTTTTTCAGCTCAATTATATTCTTATGGGACCACTGTCGTAGATGTAGTTCATCACTGACCAAAATGTCGTTATGTGGTGAATGACTGCGGTAAAATTCAGGGCCCACGATGTTTTAGTGCAATTAGACAATTACAAGAGATAAAGCTATATCTTTTATTCCTTTCCTCATTATGGATAAATTTTCATAGAAAAAAGGCAAATCTCCATTTTTTCCTCTGATTAAAGTACAGTGTAGTATCAGATTCAGCGCTGATCAAAAGAAAGACTGATTTGAAAAGTTGGCTTTCTTCTATAAGCCTTGCTGTTCCTTCTCAACCAAGAACACTTCAAAAGAGCTAATGAAGTAATAGCTGCTTTGATTCAAATCAAGAAGTTAAATAAAAATGTCCTACAGACTGTGAGGAGGGTGAGGTATTTAAAAGCCAATAATACATTATAGAATATACTGATATCAAAGAGCAACTTTCAGAATTATGATTGTTAACACCTATGCAGTCAGTCCTTTGATGAAGGCAGGTGAACTGACATGCTTGGTAAGAGATTATCTTTTCTCCCTAGAAACCTACTTGTTTCAGATACTGGTTTGAACCATGATGAAATACTCTGCTTCTCCTCAAAGCTCAACTCTTCTTTAGTATTCAGCTATGAGGCTTTCAGATTGATAAAACTGAATTAAATAAATGATGTGTCCCACTGGAAAGCATTCTCATTCTAAGACTGCTGGTTAGTAACTTTGCCTGGGGTATTTAAAAAAAAAAAAAAAAAAAAAAAAAAGTCAAATATCTGAGTACTAATTTCCTGAAAAGTATGTTCCGATAGATGAACAGATCATTAATGCAGAATGAGAATCACTCCTAAAATAGGTAATGGTAAAAATTAAATTGACAATTACCTCTCTCTATGCAGAAGGAAATATCACCTATATGACATCATCATCATCTATTGATACTTGCTGGCAGTGCTAATATTGTTTTTAATGCCAATTTGTAAGAAGTTTTATCTCTCTGTCACTGACATCCTACAGAGTCACTTCCCCAGGCCTCCCATAGAAGTTGGGTGCCATCAACATAGGGAAATAAGAAAAGCTTAAATGTAAGGAAGGGTCTTGTCTTTTTCTGTGCAGAAAAAACAAGAATGGCAACACAGATGCAGAAAAATAGAGCCAGAGCACTTTTAGGGGAAATGGTGGGATACAGCAGGCTTCGTAACTTTTAAGTAACAAAATTTTGTTTCTTCTTACACCTCAAGTTTTAGTCCAATGACAAAAAAGGACAAAAAGTTTTTCTTAGTCTTCCCACTGGTCAGGAAAATATGAAATGCAATTTTGACACTTTCGATGTTTGGCACTTGCCCGCAATCACTGCACCGCTATAAAAGGCCTAGAGCTGAAAAGGGAGTATACCAAGCATGCTGCCATCTGAGGAAGTCTCCTGTGCCACTTACCTGGTTTTTCGTTAAGTGATGGGTCCCACAGTCCTACATCCTCCCATGTAGTGTTTTTCAAATAAAAGTCATTAGGTTCAAATTGTTTAAAATCCTAGAAAACAGTGAAATAAGTTTACAAAAACATAGTGGTATAAACGCTAACCCAATCTTACATGTAAATCTCACCTCTTAACTAAGATGGGGAGAGGCACAGGAAAACCAACGTCAACAAGGACTTAAACTAGGAGTGATAAGGCTCTTAAATATAAAAAGGCATATGGAAGTTGCAGTCTACATTTTATATCAACCAACCACTTTCCTGATGGTCAGTCAGGTTTCCAAGGAAATTGCTGGAAGTTCTAATTAAGTAAAAAATTCAGCCACACACTAATATCAAAGCACTTTTCATTAGAGTACTGTACTCTAACTCGTCAGTTACAGTACTGGAATGGTGTCTAAAATAGCAATGTTTGCTTACAGCACTGCAAATATGATTTCTGGTTCTGTGCAAAAAAAAGATTTTTTTCGAGGGGAGGGGGCAGGAGATCAGATCAGGAAGAAAACTCAAATTTCAAACCCAAAAAGGCAGAAAGAAAGCTATTCAAAGAAAGTTAAGCAGTATGATGTTAAATTTATACTCTCATGTAAAAATTTAATGGTCCACTTCCCTCCAGACTAGGAAGATTAAAAGTCTTAGGGTAAAATCCCACTTGTTCCTAAAAAGTTCACAGTTCAAGGTGGAAAATGAAGTCTACACATAAATAATCATAGGAGGAACAAATCAAATGCATGACAGAAATGTACTGTGATGTTGGTATTAATTATTTCTATGAAGATGACCCCACAGAGTGCAAAGTGAATGGACTGTTTCATTTGGGCAGATCTACCTGAACTCTGGGGTTGGAGAAGGGCTACTTCCACACTTGGAACAACGTGACTAGAGAAGTCAACTTTTGAGCAGCTTCTGTTTCCATGCCATACTCTTCAAGTATTATTAGTGGAACTCAAATTAAGAAAACCTGTTGTATGAATGAATTTGCTTTTTTACTTCCAATTCCATTCAAACACTTACTGATCACCTATTACGTGCAAAACACTGTGCTAGGTGCTGGGGCTAAATGGATAAACAAGGTAGCTATGTTCCCTAGCCACCTAGAACTTAAAGGTTAGTGGGGGAAACAGCTTCAAACATTTCTTTTCAATCAGGGGCTCTGACCAACAAACCATAAGACCTGGAACAGTGAGATGTTGAAAAGGAGACCACTGCATGGCTATCCCACAGAGCTGTTATAAAGCTCATAGAATAAAACAGCTTGAAAAACAGTTCATAAAGCCCAAACTGTTATACAAGGGGGAAAGTAATAGTCTATGATGGGTCAAAAGGGGCAACAAATGCTCAAATCCTAAGGAAAGAGACAACAAGCACCCACACAAGCACGCCTCAACAATTAGAAGAAGGTCAACCAGAACATTCAGGCGTATCAGAATGAGAACAGGCTTTGAGTCCCACAGACACTGCCACTTTCTCAGCTGCAAGGCTGGGCCTATTTATTTGTTCTTCATCTGTGAAGTGGAGATAAGAACTGCTACACTGCCTCCCGCCTCCATGGTTGTTCTAAGGATTAAATGTATAGACAACTTTACGGCACCTAGTTCAACGCCTGACATGCTTAAGTCCTCAATGGTAGCCTTCTGCTTCAGGATGCAAAAATGAAAAAGCCCATTTTAGGGAGAAAGGCACAAGTTAATGCTATTGAGAATGTTTTCGTGAAGCTACTGCTGTGGCTGAAATTCAGAATCACATCTAAGATTTAGCCATCTTGGCCACTGACACAAAGTAATGGATCAGAAGCTGAGTCATGTTAAAATTTAAAAATGACATGCTACTTACTTCTATATGTTCTTTACAGTATTCCAACCCAATGTCACTAAGTATTTTTTTCACAGTTTTCCGGGCTTTTCTTAAACTGCCAAGATTGTTGACAGGAAGTTGGAACATAGTTTCTATTGGAAAAAAAAATTTAAGTCAAAGTCAAAACACGTACAACTTGTAATATTTACTAATTCCACTGATGA
|
pathogenic
| 314,767 |
Chromosome 20, position 50903932, gene ADNP (activity dependent neuroprotector homeobox): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder']
|
TATGAAATGCAATTTTGACACTTTCGATGTTTGGCACTTGCCCGCAATCACTGCACCGCTATAAAAGGCCTAGAGCTGAAAAGGGAGTATACCAAGCATGCTGCCATCTGAGGAAGTCTCCTGTGCCACTTACCTGGTTTTTCGTAAGTGATGGGTCCCACAGTCCTACATCCTCCCATGTAGTGTTTTTCAAATAAAAGTCATTAGGTTCAAATTGTTTAAAATCCTAGAAAACAGTGAAATAAGTTTACAAAAACATAGTGGTATAAACGCTAACCCAATCTTACATGTAAATCTCACCTCTTAACTAAGATGGGGAGAGGCACAGGAAAACCAACGTCAACAAGGACTTAAACTAGGAGTGATAAGGCTCTTAAATATAAAAAGGCATATGGAAGTTGCAGTCTACATTTTATATCAACCAACCACTTTCCTGATGGTCAGTCAGGTTTCCAAGGAAATTGCTGGAAGTTCTAATTAAGTAAAAAATTCAGCCACACACTAATATCAAAGCACTTTTCATTAGAGTACTGTACTCTAACTCGTCAGTTACAGTACTGGAATGGTGTCTAAAATAGCAATGTTTGCTTACAGCACTGCAAATATGATTTCTGGTTCTGTGCAAAAAAAAGATTTTTTTCGAGGGGAGGGGGCAGGAGATCAGATCAGGAAGAAAACTCAAATTTCAAACCCAAAAAGGCAGAAAGAAAGCTATTCAAAGAAAGTTAAGCAGTATGATGTTAAATTTATACTCTCATGTAAAAATTTAATGGTCCACTTCCCTCCAGACTAGGAAGATTAAAAGTCTTAGGGTAAAATCCCACTTGTTCCTAAAAAGTTCACAGTTCAAGGTGGAAAATGAAGTCTACACATAAATAATCATAGGAGGAACAAATCAAATGCATGACAGAAATGTACTGTGATGTTGGTATTAATTATTTCTATGAAGATGACCCCACAGAGTGCAAAGTGAATGGACTGTTTCATTTGGGCAGATCTACCTGAACTCTGGGGTTGGAGAAGGGCTACTTCCACACTTGGAACAACGTGACTAGAGAAGTCAACTTTTGAGCAGCTTCTGTTTCCATGCCATACTCTTCAAGTATTATTAGTGGAACTCAAATTAAGAAAACCTGTTGTATGAATGAATTTGCTTTTTTACTTCCAATTCCATTCAAACACTTACTGATCACCTATTACGTGCAAAACACTGTGCTAGGTGCTGGGGCTAAATGGATAAACAAGGTAGCTATGTTCCCTAGCCACCTAGAACTTAAAGGTTAGTGGGGGAAACAGCTTCAAACATTTCTTTTCAATCAGGGGCTCTGACCAACAAACCATAAGACCTGGAACAGTGAGATGTTGAAAAGGAGACCACTGCATGGCTATCCCACAGAGCTGTTATAAAGCTCATAGAATAAAACAGCTTGAAAAACAGTTCATAAAGCCCAAACTGTTATACAAGGGGGAAAGTAATAGTCTATGATGGGTCAAAAGGGGCAACAAATGCTCAAATCCTAAGGAAAGAGACAACAAGCACCCACACAAGCACGCCTCAACAATTAGAAGAAGGTCAACCAGAACATTCAGGCGTATCAGAATGAGAACAGGCTTTGAGTCCCACAGACACTGCCACTTTCTCAGCTGCAAGGCTGGGCCTATTTATTTGTTCTTCATCTGTGAAGTGGAGATAAGAACTGCTACACTGCCTCCCGCCTCCATGGTTGTTCTAAGGATTAAATGTATAGACAACTTTACGGCACCTAGTTCAACGCCTGACATGCTTAAGTCCTCAATGGTAGCCTTCTGCTTCAGGATGCAAAAATGAAAAAGCCCATTTTAGGGAGAAAGGCACAAGTTAATGCTATTGAGAATGTTTTCGTGAAGCTACTGCTGTGGCTGAAATTCAGAATCACATCTAAGATTTAGCCATCTTGGCCACTGACACAAAGTAATGGATCAGAAGCTGAGTCATGTTAAAATTTAAAAATGACATGCTACTTACTTCTATATGTTCTTTACAGTATTCCAACCCAATGTCACTAAGTATTTTTTTCACAGTTTTCCGGGCTTTTCTTAAACTGCCAAGATTGTTGACAGGAAGTTGGAACATAGTTTCTATTGGAAAAAAAAATTTAAGTCAAAGTCAAAACACGTACAACTTGTAATATTTACTAATTCCACTGATGATAGGATCATAAAACCTACCCATCTGACAAAAAAGGTGCATAGATATCCTCATCTAGTGTGTACACACACAGACACACACCTGCTTTCATGTGCATATGGCTTGATATATCCATCCATCCATCCTTCCTTCCTTTTCTTAAGACAGAGTCTTACTCTGTCGCGCAGGCTGGAGTGCAGTGCACTCATGGTTCATTGACTGCAGTGCACTCACGATTCACCATAGCCTCAACCTTCTGGGCTCAAGTGATCCTCTCACCTCAGCTTCTCAAGAGGAAGGGACTCCAGGAGTGCGCCACTATGCCCAACTAATTTTTAAAATTTTTTTGTAGAGACTAGGTCTCACTATGTTGCCAAGGCTGCTCACAAACTCCTGGACTCAAGCCATCCTCCTGCCTTGGCACCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGAGCCGAGCACATATCTACTATATTTTGAATACTTAAAGCAGGCAGGCAAAATAAGTACTCTCTGATTTTCCCAGTTTTTAACAGGACATTTTGACTATGAGTCTAATCTGGCATAATTCTGATAAGACTTAACAACAGTTCAGTAATGAACTTCAAGATGAAAATTAGAGAAATACTAGCAATCAATTATTTTTAAATCAAGTGTTAGTGCTTTTCTCATTTTGATGTTGAACATCTGAAAACAGAAAAATGCTTACCAGTTCATCATCATTACAGTTTTGAGTGCCAGGGTAAAGAGGTTTTTGTTGAATTGGAACTGTCCTGCCTACTGCTACGGTATTCTTTAAAACAAAAACAAAAACAAAAACAAAAACAAAAAAACCTTAAGTTTCTGTATACTCCCCAAACTAAATACAGTAATGATATGTGACTCGACCAATGCATGCCCCCACTCCACCCCTGCCTGCAACGTACCTGGGCAAAGGTACTCAAAAATGTTAACTGTTACAGACTTTAAGGAGGGTACTTTTGAAAAAAATGAAAAGCCTGTATGTGTCTAAGGGAACTCAAAAATTATTTTAATGACCTAATACATTAAATTAGAAATTCATATCAACTTTCCCAAGTTCCTTAAAACAGAAGTTTGTCTTTAATGAGAAAATAAAATCAGTAAAACCTGGGCAGCTGAGAATATGTATGGTTTCTAATGAGATCAGAAATGCTTCCCATAATATGGTAAAAATTTATCAATTTAATAATCCAAATCTAACACAATTTCGCAGGATATAAAGTAGTTCTAAAACCCAAAACAGCAAAAACAAAAGACAAAGCACCAGGAATTAAAATTTAATATATGCAAATCCAGTTTTCTAATTAACAAAGGCTGTTACTCTGTAATACCAATATCATCTGTAAATGGCAAGTCAACTAATCCAAATGTAATAAAATGCTGCCTCATTTATTATTCTAATCCAAAATCAACGTTAACTATAAAAAAATGGAAAATAAAAGGAGAAAGAGTGAAATCTACCAAAATCAAAGAGTAACCCCTAGAAATTTTGAAACTGGGTACGTTACTCTAACTTAGAAGTCTCAAAATATTCTATATGAAGTACCAAAGTCTAATTGGGGCCGAAAATGAAAAGTATTTCAAAAAAACCTTCTAGGCCTTATCATACTCAAGATAGAATTGCTGCTCACTATGAAGCAATGACTATGGTGTCCCCTGCTCTCTCTGCTATGCTAATAATCTGCATATTGTGAAGCCAACTACAGACTTAGAAGTCACTTCTGATATAAATTAAGACCAAATCAATTATTTTTTGTCCAAATTTTATTGCTAAATTGTTTTAAACCATCTTTTGTGGTGGCTTAAAACCAGCAAATTCTTTATCACTTGCTTAATTTAAAACAGTTAGTACACACTGGGCATGGTGCCTCACGCCTGTAATCCCAACACTTTAGGAGGCCG
|
TATGAAATGCAATTTTGACACTTTCGATGTTTGGCACTTGCCCGCAATCACTGCACCGCTATAAAAGGCCTAGAGCTGAAAAGGGAGTATACCAAGCATGCTGCCATCTGAGGAAGTCTCCTGTGCCACTTACCTGGTTTTTCGTAAGTGATGGGTCCCACAGTCCTACATCCTCCCATGTAGTGTTTTTCAAATAAAAGTCATTAGGTTCAAATTGTTTAAAATCCTAGAAAACAGTGAAATAAGTTTACAAAAACATAGTGGTATAAACGCTAACCCAATCTTACATGTAAATCTCACCTCTTAACTAAGATGGGGAGAGGCACAGGAAAACCAACGTCAACAAGGACTTAAACTAGGAGTGATAAGGCTCTTAAATATAAAAAGGCATATGGAAGTTGCAGTCTACATTTTATATCAACCAACCACTTTCCTGATGGTCAGTCAGGTTTCCAAGGAAATTGCTGGAAGTTCTAATTAAGTAAAAAATTCAGCCACACACTAATATCAAAGCACTTTTCATTAGAGTACTGTACTCTAACTCGTCAGTTACAGTACTGGAATGGTGTCTAAAATAGCAATGTTTGCTTACAGCACTGCAAATATGATTTCTGGTTCTGTGCAAAAAAAAGATTTTTTTCGAGGGGAGGGGGCAGGAGATCAGATCAGGAAGAAAACTCAAATTTCAAACCCAAAAAGGCAGAAAGAAAGCTATTCAAAGAAAGTTAAGCAGTATGATGTTAAATTTATACTCTCATGTAAAAATTTAATGGTCCACTTCCCTCCAGACTAGGAAGATTAAAAGTCTTAGGGTAAAATCCCACTTGTTCCTAAAAAGTTCACAGTTCAAGGTGGAAAATGAAGTCTACACATAAATAATCATAGGAGGAACAAATCAAATGCATGACAGAAATGTACTGTGATGTTGGTATTAATTATTTCTATGAAGATGACCCCACAGAGTGCAAAGTGAATGGACTGTTTCATTTGGGCAGATCTACCTGAACTCTGGGGTTGGAGAAGGGCTACTTCCACACTTGGAACAACGTGACTAGAGAAGTCAACTTTTGAGCAGCTTCTGTTTCCATGCCATACTCTTCAAGTATTATTAGTGGAACTCAAATTAAGAAAACCTGTTGTATGAATGAATTTGCTTTTTTACTTCCAATTCCATTCAAACACTTACTGATCACCTATTACGTGCAAAACACTGTGCTAGGTGCTGGGGCTAAATGGATAAACAAGGTAGCTATGTTCCCTAGCCACCTAGAACTTAAAGGTTAGTGGGGGAAACAGCTTCAAACATTTCTTTTCAATCAGGGGCTCTGACCAACAAACCATAAGACCTGGAACAGTGAGATGTTGAAAAGGAGACCACTGCATGGCTATCCCACAGAGCTGTTATAAAGCTCATAGAATAAAACAGCTTGAAAAACAGTTCATAAAGCCCAAACTGTTATACAAGGGGGAAAGTAATAGTCTATGATGGGTCAAAAGGGGCAACAAATGCTCAAATCCTAAGGAAAGAGACAACAAGCACCCACACAAGCACGCCTCAACAATTAGAAGAAGGTCAACCAGAACATTCAGGCGTATCAGAATGAGAACAGGCTTTGAGTCCCACAGACACTGCCACTTTCTCAGCTGCAAGGCTGGGCCTATTTATTTGTTCTTCATCTGTGAAGTGGAGATAAGAACTGCTACACTGCCTCCCGCCTCCATGGTTGTTCTAAGGATTAAATGTATAGACAACTTTACGGCACCTAGTTCAACGCCTGACATGCTTAAGTCCTCAATGGTAGCCTTCTGCTTCAGGATGCAAAAATGAAAAAGCCCATTTTAGGGAGAAAGGCACAAGTTAATGCTATTGAGAATGTTTTCGTGAAGCTACTGCTGTGGCTGAAATTCAGAATCACATCTAAGATTTAGCCATCTTGGCCACTGACACAAAGTAATGGATCAGAAGCTGAGTCATGTTAAAATTTAAAAATGACATGCTACTTACTTCTATATGTTCTTTACAGTATTCCAACCCAATGTCACTAAGTATTTTTTTTCACAGTTTTCCGGGCTTTTCTTAAACTGCCAAGATTGTTGACAGGAAGTTGGAACATAGTTTCTATTGGAAAAAAAAATTTAAGTCAAAGTCAAAACACGTACAACTTGTAATATTTACTAATTCCACTGATGATAGGATCATAAAACCTACCCATCTGACAAAAAAGGTGCATAGATATCCTCATCTAGTGTGTACACACACAGACACACACCTGCTTTCATGTGCATATGGCTTGATATATCCATCCATCCATCCTTCCTTCCTTTTCTTAAGACAGAGTCTTACTCTGTCGCGCAGGCTGGAGTGCAGTGCACTCATGGTTCATTGACTGCAGTGCACTCACGATTCACCATAGCCTCAACCTTCTGGGCTCAAGTGATCCTCTCACCTCAGCTTCTCAAGAGGAAGGGACTCCAGGAGTGCGCCACTATGCCCAACTAATTTTTAAAATTTTTTTGTAGAGACTAGGTCTCACTATGTTGCCAAGGCTGCTCACAAACTCCTGGACTCAAGCCATCCTCCTGCCTTGGCACCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGAGCCGAGCACATATCTACTATATTTTGAATACTTAAAGCAGGCAGGCAAAATAAGTACTCTCTGATTTTCCCAGTTTTTAACAGGACATTTTGACTATGAGTCTAATCTGGCATAATTCTGATAAGACTTAACAACAGTTCAGTAATGAACTTCAAGATGAAAATTAGAGAAATACTAGCAATCAATTATTTTTAAATCAAGTGTTAGTGCTTTTCTCATTTTGATGTTGAACATCTGAAAACAGAAAAATGCTTACCAGTTCATCATCATTACAGTTTTGAGTGCCAGGGTAAAGAGGTTTTTGTTGAATTGGAACTGTCCTGCCTACTGCTACGGTATTCTTTAAAACAAAAACAAAAACAAAAACAAAAACAAAAAAACCTTAAGTTTCTGTATACTCCCCAAACTAAATACAGTAATGATATGTGACTCGACCAATGCATGCCCCCACTCCACCCCTGCCTGCAACGTACCTGGGCAAAGGTACTCAAAAATGTTAACTGTTACAGACTTTAAGGAGGGTACTTTTGAAAAAAATGAAAAGCCTGTATGTGTCTAAGGGAACTCAAAAATTATTTTAATGACCTAATACATTAAATTAGAAATTCATATCAACTTTCCCAAGTTCCTTAAAACAGAAGTTTGTCTTTAATGAGAAAATAAAATCAGTAAAACCTGGGCAGCTGAGAATATGTATGGTTTCTAATGAGATCAGAAATGCTTCCCATAATATGGTAAAAATTTATCAATTTAATAATCCAAATCTAACACAATTTCGCAGGATATAAAGTAGTTCTAAAACCCAAAACAGCAAAAACAAAAGACAAAGCACCAGGAATTAAAATTTAATATATGCAAATCCAGTTTTCTAATTAACAAAGGCTGTTACTCTGTAATACCAATATCATCTGTAAATGGCAAGTCAACTAATCCAAATGTAATAAAATGCTGCCTCATTTATTATTCTAATCCAAAATCAACGTTAACTATAAAAAAATGGAAAATAAAAGGAGAAAGAGTGAAATCTACCAAAATCAAAGAGTAACCCCTAGAAATTTTGAAACTGGGTACGTTACTCTAACTTAGAAGTCTCAAAATATTCTATATGAAGTACCAAAGTCTAATTGGGGCCGAAAATGAAAAGTATTTCAAAAAAACCTTCTAGGCCTTATCATACTCAAGATAGAATTGCTGCTCACTATGAAGCAATGACTATGGTGTCCCCTGCTCTCTCTGCTATGCTAATAATCTGCATATTGTGAAGCCAACTACAGACTTAGAAGTCACTTCTGATATAAATTAAGACCAAATCAATTATTTTTTGTCCAAATTTTATTGCTAAATTGTTTTAAACCATCTTTTGTGGTGGCTTAAAACCAGCAAATTCTTTATCACTTGCTTAATTTAAAACAGTTAGTACACACTGGGCATGGTGCCTCACGCCTGTAATCCCAACACTTTAGGAGGCC
|
pathogenic
| 314,771 |
For chromosome 20, position 50903939, gene ADNP (activity dependent neuroprotector homeobox): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic
|
TGCAATTTTGACACTTTCGATGTTTGGCACTTGCCCGCAATCACTGCACCGCTATAAAAGGCCTAGAGCTGAAAAGGGAGTATACCAAGCATGCTGCCATCTGAGGAAGTCTCCTGTGCCACTTACCTGGTTTTTCGTAAGTGATGGGTCCCACAGTCCTACATCCTCCCATGTAGTGTTTTTCAAATAAAAGTCATTAGGTTCAAATTGTTTAAAATCCTAGAAAACAGTGAAATAAGTTTACAAAAACATAGTGGTATAAACGCTAACCCAATCTTACATGTAAATCTCACCTCTTAACTAAGATGGGGAGAGGCACAGGAAAACCAACGTCAACAAGGACTTAAACTAGGAGTGATAAGGCTCTTAAATATAAAAAGGCATATGGAAGTTGCAGTCTACATTTTATATCAACCAACCACTTTCCTGATGGTCAGTCAGGTTTCCAAGGAAATTGCTGGAAGTTCTAATTAAGTAAAAAATTCAGCCACACACTAATATCAAAGCACTTTTCATTAGAGTACTGTACTCTAACTCGTCAGTTACAGTACTGGAATGGTGTCTAAAATAGCAATGTTTGCTTACAGCACTGCAAATATGATTTCTGGTTCTGTGCAAAAAAAAGATTTTTTTCGAGGGGAGGGGGCAGGAGATCAGATCAGGAAGAAAACTCAAATTTCAAACCCAAAAAGGCAGAAAGAAAGCTATTCAAAGAAAGTTAAGCAGTATGATGTTAAATTTATACTCTCATGTAAAAATTTAATGGTCCACTTCCCTCCAGACTAGGAAGATTAAAAGTCTTAGGGTAAAATCCCACTTGTTCCTAAAAAGTTCACAGTTCAAGGTGGAAAATGAAGTCTACACATAAATAATCATAGGAGGAACAAATCAAATGCATGACAGAAATGTACTGTGATGTTGGTATTAATTATTTCTATGAAGATGACCCCACAGAGTGCAAAGTGAATGGACTGTTTCATTTGGGCAGATCTACCTGAACTCTGGGGTTGGAGAAGGGCTACTTCCACACTTGGAACAACGTGACTAGAGAAGTCAACTTTTGAGCAGCTTCTGTTTCCATGCCATACTCTTCAAGTATTATTAGTGGAACTCAAATTAAGAAAACCTGTTGTATGAATGAATTTGCTTTTTTACTTCCAATTCCATTCAAACACTTACTGATCACCTATTACGTGCAAAACACTGTGCTAGGTGCTGGGGCTAAATGGATAAACAAGGTAGCTATGTTCCCTAGCCACCTAGAACTTAAAGGTTAGTGGGGGAAACAGCTTCAAACATTTCTTTTCAATCAGGGGCTCTGACCAACAAACCATAAGACCTGGAACAGTGAGATGTTGAAAAGGAGACCACTGCATGGCTATCCCACAGAGCTGTTATAAAGCTCATAGAATAAAACAGCTTGAAAAACAGTTCATAAAGCCCAAACTGTTATACAAGGGGGAAAGTAATAGTCTATGATGGGTCAAAAGGGGCAACAAATGCTCAAATCCTAAGGAAAGAGACAACAAGCACCCACACAAGCACGCCTCAACAATTAGAAGAAGGTCAACCAGAACATTCAGGCGTATCAGAATGAGAACAGGCTTTGAGTCCCACAGACACTGCCACTTTCTCAGCTGCAAGGCTGGGCCTATTTATTTGTTCTTCATCTGTGAAGTGGAGATAAGAACTGCTACACTGCCTCCCGCCTCCATGGTTGTTCTAAGGATTAAATGTATAGACAACTTTACGGCACCTAGTTCAACGCCTGACATGCTTAAGTCCTCAATGGTAGCCTTCTGCTTCAGGATGCAAAAATGAAAAAGCCCATTTTAGGGAGAAAGGCACAAGTTAATGCTATTGAGAATGTTTTCGTGAAGCTACTGCTGTGGCTGAAATTCAGAATCACATCTAAGATTTAGCCATCTTGGCCACTGACACAAAGTAATGGATCAGAAGCTGAGTCATGTTAAAATTTAAAAATGACATGCTACTTACTTCTATATGTTCTTTACAGTATTCCAACCCAATGTCACTAAGTATTTTTTTCACAGTTTTCCGGGCTTTTCTTAAACTGCCAAGATTGTTGACAGGAAGTTGGAACATAGTTTCTATTGGAAAAAAAAATTTAAGTCAAAGTCAAAACACGTACAACTTGTAATATTTACTAATTCCACTGATGATAGGATCATAAAACCTACCCATCTGACAAAAAAGGTGCATAGATATCCTCATCTAGTGTGTACACACACAGACACACACCTGCTTTCATGTGCATATGGCTTGATATATCCATCCATCCATCCTTCCTTCCTTTTCTTAAGACAGAGTCTTACTCTGTCGCGCAGGCTGGAGTGCAGTGCACTCATGGTTCATTGACTGCAGTGCACTCACGATTCACCATAGCCTCAACCTTCTGGGCTCAAGTGATCCTCTCACCTCAGCTTCTCAAGAGGAAGGGACTCCAGGAGTGCGCCACTATGCCCAACTAATTTTTAAAATTTTTTTGTAGAGACTAGGTCTCACTATGTTGCCAAGGCTGCTCACAAACTCCTGGACTCAAGCCATCCTCCTGCCTTGGCACCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGAGCCGAGCACATATCTACTATATTTTGAATACTTAAAGCAGGCAGGCAAAATAAGTACTCTCTGATTTTCCCAGTTTTTAACAGGACATTTTGACTATGAGTCTAATCTGGCATAATTCTGATAAGACTTAACAACAGTTCAGTAATGAACTTCAAGATGAAAATTAGAGAAATACTAGCAATCAATTATTTTTAAATCAAGTGTTAGTGCTTTTCTCATTTTGATGTTGAACATCTGAAAACAGAAAAATGCTTACCAGTTCATCATCATTACAGTTTTGAGTGCCAGGGTAAAGAGGTTTTTGTTGAATTGGAACTGTCCTGCCTACTGCTACGGTATTCTTTAAAACAAAAACAAAAACAAAAACAAAAACAAAAAAACCTTAAGTTTCTGTATACTCCCCAAACTAAATACAGTAATGATATGTGACTCGACCAATGCATGCCCCCACTCCACCCCTGCCTGCAACGTACCTGGGCAAAGGTACTCAAAAATGTTAACTGTTACAGACTTTAAGGAGGGTACTTTTGAAAAAAATGAAAAGCCTGTATGTGTCTAAGGGAACTCAAAAATTATTTTAATGACCTAATACATTAAATTAGAAATTCATATCAACTTTCCCAAGTTCCTTAAAACAGAAGTTTGTCTTTAATGAGAAAATAAAATCAGTAAAACCTGGGCAGCTGAGAATATGTATGGTTTCTAATGAGATCAGAAATGCTTCCCATAATATGGTAAAAATTTATCAATTTAATAATCCAAATCTAACACAATTTCGCAGGATATAAAGTAGTTCTAAAACCCAAAACAGCAAAAACAAAAGACAAAGCACCAGGAATTAAAATTTAATATATGCAAATCCAGTTTTCTAATTAACAAAGGCTGTTACTCTGTAATACCAATATCATCTGTAAATGGCAAGTCAACTAATCCAAATGTAATAAAATGCTGCCTCATTTATTATTCTAATCCAAAATCAACGTTAACTATAAAAAAATGGAAAATAAAAGGAGAAAGAGTGAAATCTACCAAAATCAAAGAGTAACCCCTAGAAATTTTGAAACTGGGTACGTTACTCTAACTTAGAAGTCTCAAAATATTCTATATGAAGTACCAAAGTCTAATTGGGGCCGAAAATGAAAAGTATTTCAAAAAAACCTTCTAGGCCTTATCATACTCAAGATAGAATTGCTGCTCACTATGAAGCAATGACTATGGTGTCCCCTGCTCTCTCTGCTATGCTAATAATCTGCATATTGTGAAGCCAACTACAGACTTAGAAGTCACTTCTGATATAAATTAAGACCAAATCAATTATTTTTTGTCCAAATTTTATTGCTAAATTGTTTTAAACCATCTTTTGTGGTGGCTTAAAACCAGCAAATTCTTTATCACTTGCTTAATTTAAAACAGTTAGTACACACTGGGCATGGTGCCTCACGCCTGTAATCCCAACACTTTAGGAGGCCGAGGAGGG
|
TGCAATTTTGACACTTTCGATGTTTGGCACTTGCCCGCAATCACTGCACCGCTATAAAAGGCCTAGAGCTGAAAAGGGAGTATACCAAGCATGCTGCCATCTGAGGAAGTCTCCTGTGCCACTTACCTGGTTTTTCGTAAGTGATGGGTCCCACAGTCCTACATCCTCCCATGTAGTGTTTTTCAAATAAAAGTCATTAGGTTCAAATTGTTTAAAATCCTAGAAAACAGTGAAATAAGTTTACAAAAACATAGTGGTATAAACGCTAACCCAATCTTACATGTAAATCTCACCTCTTAACTAAGATGGGGAGAGGCACAGGAAAACCAACGTCAACAAGGACTTAAACTAGGAGTGATAAGGCTCTTAAATATAAAAAGGCATATGGAAGTTGCAGTCTACATTTTATATCAACCAACCACTTTCCTGATGGTCAGTCAGGTTTCCAAGGAAATTGCTGGAAGTTCTAATTAAGTAAAAAATTCAGCCACACACTAATATCAAAGCACTTTTCATTAGAGTACTGTACTCTAACTCGTCAGTTACAGTACTGGAATGGTGTCTAAAATAGCAATGTTTGCTTACAGCACTGCAAATATGATTTCTGGTTCTGTGCAAAAAAAAGATTTTTTTCGAGGGGAGGGGGCAGGAGATCAGATCAGGAAGAAAACTCAAATTTCAAACCCAAAAAGGCAGAAAGAAAGCTATTCAAAGAAAGTTAAGCAGTATGATGTTAAATTTATACTCTCATGTAAAAATTTAATGGTCCACTTCCCTCCAGACTAGGAAGATTAAAAGTCTTAGGGTAAAATCCCACTTGTTCCTAAAAAGTTCACAGTTCAAGGTGGAAAATGAAGTCTACACATAAATAATCATAGGAGGAACAAATCAAATGCATGACAGAAATGTACTGTGATGTTGGTATTAATTATTTCTATGAAGATGACCCCACAGAGTGCAAAGTGAATGGACTGTTTCATTTGGGCAGATCTACCTGAACTCTGGGGTTGGAGAAGGGCTACTTCCACACTTGGAACAACGTGACTAGAGAAGTCAACTTTTGAGCAGCTTCTGTTTCCATGCCATACTCTTCAAGTATTATTAGTGGAACTCAAATTAAGAAAACCTGTTGTATGAATGAATTTGCTTTTTTACTTCCAATTCCATTCAAACACTTACTGATCACCTATTACGTGCAAAACACTGTGCTAGGTGCTGGGGCTAAATGGATAAACAAGGTAGCTATGTTCCCTAGCCACCTAGAACTTAAAGGTTAGTGGGGGAAACAGCTTCAAACATTTCTTTTCAATCAGGGGCTCTGACCAACAAACCATAAGACCTGGAACAGTGAGATGTTGAAAAGGAGACCACTGCATGGCTATCCCACAGAGCTGTTATAAAGCTCATAGAATAAAACAGCTTGAAAAACAGTTCATAAAGCCCAAACTGTTATACAAGGGGGAAAGTAATAGTCTATGATGGGTCAAAAGGGGCAACAAATGCTCAAATCCTAAGGAAAGAGACAACAAGCACCCACACAAGCACGCCTCAACAATTAGAAGAAGGTCAACCAGAACATTCAGGCGTATCAGAATGAGAACAGGCTTTGAGTCCCACAGACACTGCCACTTTCTCAGCTGCAAGGCTGGGCCTATTTATTTGTTCTTCATCTGTGAAGTGGAGATAAGAACTGCTACACTGCCTCCCGCCTCCATGGTTGTTCTAAGGATTAAATGTATAGACAACTTTACGGCACCTAGTTCAACGCCTGACATGCTTAAGTCCTCAATGGTAGCCTTCTGCTTCAGGATGCAAAAATGAAAAAGCCCATTTTAGGGAGAAAGGCACAAGTTAATGCTATTGAGAATGTTTTCGTGAAGCTACTGCTGTGGCTGAAATTCAGAATCACATCTAAGATTTAGCCATCTTGGCCACTGACACAAAGTAATGGATCAGAAGCTGAGTCATGTTAAAATTTAAAAATGACATGCTACTTACTTCTATATGTTCTTTACAGTATTCCAACCCAATGTCACTAAGTATTTTTTTCAGTTTTCCGGGCTTTTCTTAAACTGCCAAGATTGTTGACAGGAAGTTGGAACATAGTTTCTATTGGAAAAAAAAATTTAAGTCAAAGTCAAAACACGTACAACTTGTAATATTTACTAATTCCACTGATGATAGGATCATAAAACCTACCCATCTGACAAAAAAGGTGCATAGATATCCTCATCTAGTGTGTACACACACAGACACACACCTGCTTTCATGTGCATATGGCTTGATATATCCATCCATCCATCCTTCCTTCCTTTTCTTAAGACAGAGTCTTACTCTGTCGCGCAGGCTGGAGTGCAGTGCACTCATGGTTCATTGACTGCAGTGCACTCACGATTCACCATAGCCTCAACCTTCTGGGCTCAAGTGATCCTCTCACCTCAGCTTCTCAAGAGGAAGGGACTCCAGGAGTGCGCCACTATGCCCAACTAATTTTTAAAATTTTTTTGTAGAGACTAGGTCTCACTATGTTGCCAAGGCTGCTCACAAACTCCTGGACTCAAGCCATCCTCCTGCCTTGGCACCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGAGCCGAGCACATATCTACTATATTTTGAATACTTAAAGCAGGCAGGCAAAATAAGTACTCTCTGATTTTCCCAGTTTTTAACAGGACATTTTGACTATGAGTCTAATCTGGCATAATTCTGATAAGACTTAACAACAGTTCAGTAATGAACTTCAAGATGAAAATTAGAGAAATACTAGCAATCAATTATTTTTAAATCAAGTGTTAGTGCTTTTCTCATTTTGATGTTGAACATCTGAAAACAGAAAAATGCTTACCAGTTCATCATCATTACAGTTTTGAGTGCCAGGGTAAAGAGGTTTTTGTTGAATTGGAACTGTCCTGCCTACTGCTACGGTATTCTTTAAAACAAAAACAAAAACAAAAACAAAAACAAAAAAACCTTAAGTTTCTGTATACTCCCCAAACTAAATACAGTAATGATATGTGACTCGACCAATGCATGCCCCCACTCCACCCCTGCCTGCAACGTACCTGGGCAAAGGTACTCAAAAATGTTAACTGTTACAGACTTTAAGGAGGGTACTTTTGAAAAAAATGAAAAGCCTGTATGTGTCTAAGGGAACTCAAAAATTATTTTAATGACCTAATACATTAAATTAGAAATTCATATCAACTTTCCCAAGTTCCTTAAAACAGAAGTTTGTCTTTAATGAGAAAATAAAATCAGTAAAACCTGGGCAGCTGAGAATATGTATGGTTTCTAATGAGATCAGAAATGCTTCCCATAATATGGTAAAAATTTATCAATTTAATAATCCAAATCTAACACAATTTCGCAGGATATAAAGTAGTTCTAAAACCCAAAACAGCAAAAACAAAAGACAAAGCACCAGGAATTAAAATTTAATATATGCAAATCCAGTTTTCTAATTAACAAAGGCTGTTACTCTGTAATACCAATATCATCTGTAAATGGCAAGTCAACTAATCCAAATGTAATAAAATGCTGCCTCATTTATTATTCTAATCCAAAATCAACGTTAACTATAAAAAAATGGAAAATAAAAGGAGAAAGAGTGAAATCTACCAAAATCAAAGAGTAACCCCTAGAAATTTTGAAACTGGGTACGTTACTCTAACTTAGAAGTCTCAAAATATTCTATATGAAGTACCAAAGTCTAATTGGGGCCGAAAATGAAAAGTATTTCAAAAAAACCTTCTAGGCCTTATCATACTCAAGATAGAATTGCTGCTCACTATGAAGCAATGACTATGGTGTCCCCTGCTCTCTCTGCTATGCTAATAATCTGCATATTGTGAAGCCAACTACAGACTTAGAAGTCACTTCTGATATAAATTAAGACCAAATCAATTATTTTTTGTCCAAATTTTATTGCTAAATTGTTTTAAACCATCTTTTGTGGTGGCTTAAAACCAGCAAATTCTTTATCACTTGCTTAATTTAAAACAGTTAGTACACACTGGGCATGGTGCCTCACGCCTGTAATCCCAACACTTTAGGAGGCCGAGGAGGGNN
|
pathogenic
| 314,772 |
Regarding the variant found on chromosome 20 at position 50935242 in gene DPM1: is it benign or pathogenic? If pathogenic, identify the disease(s).
|
benign
|
ATTGTGTGAATAACTAAAAAGATTTAAAAGGCAAACATTATCTACTCTAGTGAGTATCTGAGAAGGCAGTACTATCTATATTAGGTTCTCTAAGGTTGTTACTTAATTTCTGCTCCACATACTTGACACTGAGAACTCAACTTTGAGTTTAGGTTAAGAAAAAATAAATTCTAACCACTCCAAAAAAACTGAGAATATTACATTTCTATTATCTTAGCTTAAAACTAATTTCACATCAAGCACTGATGAATTTTCTTCTTGTTATGAATGAGAGAAGTTTCTTCCCTAAGGAAAGCAGTTCCCTCACTGGCCAGCTGGACAGTTCTGGACATAAGGGAAACAGAACAAGAGTGGCCCTTATTGGAATGTGTACTATGGGTTCAACTATAGAAGCGTGGGAGGGGGTGGTTTTAATGTTCGAAATGACACCACAGGTTTTATAGTCTGGGATTCATTTCTGGTAGAATCTGTCAGAGAGAAATGCAAATGAAAAATCAGATTTTCATTTTTTTTTCTTTTAAAAAAGACAGGGTCTCACTCTGTTGTCCAGGCATGATCACAGCTCACTGCAGCCTTGACCTCCCAGACTCAAGTGAACCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGAGTGCCACCACACCCAGCTTTTTTTATATTTTTGTAGAGACAGGATCTCCCTATGTTCCCTAGGCTGGTCTCAAATGCCTGTGCTCAAGCCATCCTCTTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGACATGGGCCATTGTGCTGGGCCTCAATTTCTTCAGCAGCCAAGTTAAGCCAGGAAAATGTAGTAATTAGGAATACTGTTCAATAAATAATTTAGAGACACCTCTTACTTTTATTTCCAGAAGAAAGTCAACTTAAACTTACTTGCTCAAAGCATGCCCTTACTCAAATTTTAAAAGATACTACATGACCATAACCTATGCTACAGTTAGAAATTAACTGATCTCTTCTGAAATACCTACTTTAGAGAAAGTGGGTAAACATAATATTTGCCCTGGCTTTATTGGATAGCTTAGCCCAAATTTTAACTGGCAGAACACTTTTCTAAATGGAGAGAAGAGCTTAAGGCAGAGATTTTTCAAATTAGTAGGGATGTGAGCTTTGCTGAGGGTCTTTAAATAATATGAAAACAAGTCTTTTGAGAAAAAAATTGTTATATAATTCAGTAAGATGTTTAAAAATTACTGTAGCAGCTAAGTTTCTGCCTCAGTGTCATTAATATTTTTCCTTACTGATAGAGGTTATTGCTCAAAAGAGAAAAAAACGGCTATGTAATCAACTGCTGTCAAATTGTTTCCCAATTCACAATATGCATTTTAAATAGACCTGCTTTGATAGATGAAATGTTTCATCAATTCAACAGCTGAAAAGAACCGAACTGTAAATGCCTGCTCTAAATGTATTTTCTAGTTTAAGAAATTTGAGATACATTTTTAAGGAAAGGGCAGAGGTGTGTATTTCTTTTTCAATTCATACAGACACAGCCATAAACATTTCATCAGTTAACATTATCTTACTTCTGAGATCAATTAGGTATAAAGATCTATGATTCCAGTTTTTAAAAAGACTATTTCAAATTATTCCCCATGTAAAAAATTCTACATTCACATACTCTAATGAAGGCAGCAATACTTTATGCAAAAAAAAATATACATTTATTTATAGGTCTCAATACAGCAAAATGAAAACGAAAATTGAGAACATTGCTCATTAGGCCAGCAACTTTAAAATTATTTAATTTGAAATATAAAATAGGTGGTCTTCATAAAAAGATGCATGAAATTTACCTTACCTTATATTTTATACTTTAAGAGTACATTTTATACAAATCAGTAACCAGGCTTCTTTCATGTTTAACCTGAAATGAACGTAACTATAAATGAGTATCTTTCTTTTATGTAGTAGCAAAAAGAGTCAATAATCCTTTCAAGAAAGATACTATTTCATTTCCTCCCAACTTGGATTCACCATAAACACGATCCACAAATGATATTGGAACCTAGTTTAAAAAAAAAAAAGTAACGTTAGTCTTTAAAAACAATTAGGCAGCTTAGCCGGTATACCACATTACCAACACAACAGAAATAGGATTAGTCCTACAACAGAGGTCCTTAAAGTAAGTATAAAATTAGGGGATTATGAAAGCAACTGTGTGTATCTCCAAGTCTTTAAAATTAAACATGCATTATCTAAAGATAGGTCACATGAAACAAATCTGCAACTGTTTAAAAAGCACTGATTCTAGGTATTACCTTGGTTTACTCAAGTTTCAGTTTGCATTTCAAGGAAAAATTATACTCCAAAAGTAAAATGGCCTTGTGCGTAGATTTTTCACTTGTCAAATTTAGCTACAATGGTTTAGCATTAAGTAAAATAGCTTGTAACTTCCACAAGAGAAGTGACATTCCATAGCTATTTTCTTGCTCTGAATAAGAGTTTTACTATTAAATGAGGAGAGTCTTCCCTACCCTAAGAGCTCACTAACGAGCCCTAAATATTACAGATCACCACCTCCTTGCTCTGTAATTCCTGGTCTTCTCTTACTAACAGGAAATGGACATATGGAACTCATCATTCATTTTAAAGTATGGTGGCCATTGGCGGTGACAAAAGGAAAAGAAGCAAAGAGACTCAGTCCATAATGCTGATTAGTTAGAAGAAAGGGCTAGGATTGAGAAAGTACCAGGAACTTTTAATTATTTAAAAGAGAATGCTGACTGTTAATGTTTTAAATCTTACTGTTCAAATGTACTAATATGAATTTTTACCCTTTGTGCATGAATATTCTAAACAACTAGAAGACCTCCACAATTTAGCAGTTATGAAAGTTAAACTTTTTATTATAAAAATTCTAAACCTTACTGCTCCTTTACCAGGAACATGACACACTATTTAGCATCAGTTGCATACCTCGCCAATAGTATAATTCAACTGTCTTGCCCGAACAATCATCTCCATCTGGAAGACGTAGCCTTTAGAAACACATTTTTCTATTAATTTCTCTAGAACTTCTTTTCGGTATAATCTGTAAGAAATTAAAAATATATATCAACTTCTGGATAAATACACATGCCTATGTATCCTGACCTTTCAAAGAGTTCACTGGTATGTATAAAGCCTAAAACTTTCACTGGCCATTGGTAAACAGAAAAGCTCGCACACTTGATGATTATGATACATTTGTCCTAAGCAAGAAAGGCCATTAAATATTTGCTAAATAACTTAGAATAATTGTGAAAATGAATTCTCAGTTATCTTTTTATAGAATTATTTTCCCACCATACTATCAGAAATTAGTGAAATACGGTAAAATGAATCATTTGATGCAGAACCATCCATTATTTAAGATTTCCCTAAAATTTAAAGTTGAAAGAAACTGTTCCAAATATTGAACAACAGGGTGGACAGATGATCATGAAGCAACTATATATGTTAGATGACAAGAAAGAACCTCATAATTCACAGTCATTTTCCAATAAATGTTTATGATGAGTTTTGATTTCTCATGATTTCCTTTATAAATTCCCCAGGATAAACTAAGTTGCTCTAGGATGAGCTTGGGAAGCTAGGTTAAAACAGGAACGAGGCATCACAGGATAGAAACAATCCTGGTGGGATTCACCTATCACCAGTTGAGGTCACAGTTAGACACTTAACAGTGGGTGAATGTGCAGCCTAACTTTAGATGGACTGCAGGCCAAACACCAGATTTACAAAGACAGCGGAGTTGGGCAGTCCAGTGGGTAGACCCAAGCACTTTCTTCAGTAACTAAATAGCAGGGAGCTCCGTATTTTCAGAGTCACACTTTTTTTTTTTTTTTTTTAAAGATCAGTGTCTCAGTTCATAGGGAGGCAGCAATTTCTACCTTTTTTTGTGGGGAGAGGGGAGAAAGCAAGAAGAGGCAGTTTGGTGTAACTTTGTTCTCTTCAAAGTTAAGGCCATCTGGACCTACTGTGCCTCAGGGTTTCACCCTGAATCCACATTTTTTTTCCCTCAGACTTCTAAGGCGACCTTATCTTTTGACTATGAAGTGGGTATAGGACAGCACAGC
|
ATTGTGTGAATAACTAAAAAGATTTAAAAGGCAAACATTATCTACTCTAGTGAGTATCTGAGAAGGCAGTACTATCTATATTAGGTTCTCTAAGGTTGTTACTTAATTTCTGCTCCACATACTTGACACTGAGAACTCAACTTTGAGTTTAGGTTAAGAAAAAATAAATTCTAACCACTCCAAAAAAACTGAGAATATTACATTTCTATTATCTTAGCTTAAAACTAATTTCACATCAAGCACTGATGAATTTTCTTCTTGTTATGAATGAGAGAAGTTTCTTCCCTAAGGAAAGCAGTTCCCTCACTGGCCAGCTGGACAGTTCTGGACATAAGGGAAACAGAACAAGAGTGGCCCTTATTGGAATGTGTACTATGGGTTCAACTATAGAAGCGTGGGAGGGGGTGGTTTTAATGTTCGAAATGACACCACAGGTTTTATAGTCTGGGATTCATTTCTGGTAGAATCTGTCAGAGAGAAATGCAAATGAAAAATCAGATTTTCATTTTTTTTTCTTTTAAAAAAGACAGGGTCTCACTCTGTTGTCCAGGCATGATCACAGCTCACTGCAGCCTTGACCTCCCAGACTCAAGTGAACCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGAGTGCCACCACACCCAGCTTTTTTTATATTTTTGTAGAGACAGGATCTCCCTATGTTCCCTAGGCTGGTCTCAAATGCCTGTGCTCAAGCCATCCTCTTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGACATGGGCCATTGTGCTGGGCCTCAATTTCTTCAGCAGCCAAGTTAAGCCAGGAAAATGTAGTAATTAGGAATACTGTTCAATAAATAATTTAGAGACACCTCTTACTTTTATTTCCAGAAGAAAGTCAACTTAAACTTACTTGCTCAAAGCATGCCCTTACTCAAATTTTAAAAGATACTACATGACCATAACCTATGCTACAGTTAGAAATTAACTGATCTCTTCTGAAATACCTACTTTAGAGAAAGTGGGTAAACATAATATTTGCCCTGGCTTTATTGGATAGCTTAGCCCAAATTTTAACTGGCAGAACACTTTTCTAAATGGAGAGAAGAGCTTAAGGCAGAGATTTTTCAAATTAGTAGGGATGTGAGCTTTGCTGAGGGTCTTTAAATAATATGAAAACAAGTCTTTTGAGAAAAAAATTGTTATATAATTCAGTAAGATGTTTAAAAATTACTGTAGCAGCTAAGTTTCTGCCTCAGTGTCATTAATATTTTTCCTTACTGATAGAGGTTATTGCTCAAAAGAGAAAAAAACGGCTATGTAATCAACTGCTGTCAAATTGTTTCCCAATTCACAATATGCATTTTAAATAGACCTGCTTTGATAGATGAAATGTTTCATCAATTCAACAGCTGAAAAGAACCGAACTGTAAATGCCTGCTCTAAATGTATTTTCTAGTTTAAGAAATTTGAGATACATTTTTAAGGAAAGGGCAGAGGTGTGTATTTCTTTTTCAATTCATACAGACACAGCCATAAACATTTCATCAGTTAACATTATCTTACTTCTGAGATCAATTAGGTATAAAGATCTATGATTCCAGTTTTTAAAAAGACTATTTCAAATTATTCCCCATGTAAAAAATTCTACATTCACATACTCTAATGAAGGCAGCAATACTTTATGCAAAAAAAAATATACATTTATTTATAGGTCTCAATACAGCAAAATGAAAACGAAAATTGAGAACATTGCTCATTAGGCCAGCAACTTTAAAATTATTTAATTTGAAATATAAAATAGGTGGTCTTCATAAAAAGATGCATGAAATTTACCTTACCTTATATTTTATACTTTAAGAGTACATTTTATACAAATCAGTAACCAGGCTTCTTTCATGTTTAACCTGAAATGAACGTAACTATAAATGAGTATCTTTCTTTTATGTAGTAGCAAAAAGAGTCAATAATCCTTTCAAGAAAGATACTATTTCATTTCCTCCCAACTTGGATTCACCATAAACACGATCCACAAATGATATTGGAACCTAGTTATAAAAAAAAAAAAGTAACGTTAGTCTTTAAAAACAATTAGGCAGCTTAGCCGGTATACCACATTACCAACACAACAGAAATAGGATTAGTCCTACAACAGAGGTCCTTAAAGTAAGTATAAAATTAGGGGATTATGAAAGCAACTGTGTGTATCTCCAAGTCTTTAAAATTAAACATGCATTATCTAAAGATAGGTCACATGAAACAAATCTGCAACTGTTTAAAAAGCACTGATTCTAGGTATTACCTTGGTTTACTCAAGTTTCAGTTTGCATTTCAAGGAAAAATTATACTCCAAAAGTAAAATGGCCTTGTGCGTAGATTTTTCACTTGTCAAATTTAGCTACAATGGTTTAGCATTAAGTAAAATAGCTTGTAACTTCCACAAGAGAAGTGACATTCCATAGCTATTTTCTTGCTCTGAATAAGAGTTTTACTATTAAATGAGGAGAGTCTTCCCTACCCTAAGAGCTCACTAACGAGCCCTAAATATTACAGATCACCACCTCCTTGCTCTGTAATTCCTGGTCTTCTCTTACTAACAGGAAATGGACATATGGAACTCATCATTCATTTTAAAGTATGGTGGCCATTGGCGGTGACAAAAGGAAAAGAAGCAAAGAGACTCAGTCCATAATGCTGATTAGTTAGAAGAAAGGGCTAGGATTGAGAAAGTACCAGGAACTTTTAATTATTTAAAAGAGAATGCTGACTGTTAATGTTTTAAATCTTACTGTTCAAATGTACTAATATGAATTTTTACCCTTTGTGCATGAATATTCTAAACAACTAGAAGACCTCCACAATTTAGCAGTTATGAAAGTTAAACTTTTTATTATAAAAATTCTAAACCTTACTGCTCCTTTACCAGGAACATGACACACTATTTAGCATCAGTTGCATACCTCGCCAATAGTATAATTCAACTGTCTTGCCCGAACAATCATCTCCATCTGGAAGACGTAGCCTTTAGAAACACATTTTTCTATTAATTTCTCTAGAACTTCTTTTCGGTATAATCTGTAAGAAATTAAAAATATATATCAACTTCTGGATAAATACACATGCCTATGTATCCTGACCTTTCAAAGAGTTCACTGGTATGTATAAAGCCTAAAACTTTCACTGGCCATTGGTAAACAGAAAAGCTCGCACACTTGATGATTATGATACATTTGTCCTAAGCAAGAAAGGCCATTAAATATTTGCTAAATAACTTAGAATAATTGTGAAAATGAATTCTCAGTTATCTTTTTATAGAATTATTTTCCCACCATACTATCAGAAATTAGTGAAATACGGTAAAATGAATCATTTGATGCAGAACCATCCATTATTTAAGATTTCCCTAAAATTTAAAGTTGAAAGAAACTGTTCCAAATATTGAACAACAGGGTGGACAGATGATCATGAAGCAACTATATATGTTAGATGACAAGAAAGAACCTCATAATTCACAGTCATTTTCCAATAAATGTTTATGATGAGTTTTGATTTCTCATGATTTCCTTTATAAATTCCCCAGGATAAACTAAGTTGCTCTAGGATGAGCTTGGGAAGCTAGGTTAAAACAGGAACGAGGCATCACAGGATAGAAACAATCCTGGTGGGATTCACCTATCACCAGTTGAGGTCACAGTTAGACACTTAACAGTGGGTGAATGTGCAGCCTAACTTTAGATGGACTGCAGGCCAAACACCAGATTTACAAAGACAGCGGAGTTGGGCAGTCCAGTGGGTAGACCCAAGCACTTTCTTCAGTAACTAAATAGCAGGGAGCTCCGTATTTTCAGAGTCACACTTTTTTTTTTTTTTTTTTAAAGATCAGTGTCTCAGTTCATAGGGAGGCAGCAATTTCTACCTTTTTTTGTGGGGAGAGGGGAGAAAGCAAGAAGAGGCAGTTTGGTGTAACTTTGTTCTCTTCAAAGTTAAGGCCATCTGGACCTACTGTGCCTCAGGGTTTCACCCTGAATCCACATTTTTTTTCCCTCAGACTTCTAAGGCGACCTTATCTTTTGACTATGAAGTGGGTATAGGACAGCACAG
|
benign
| 314,775 |
Clinical impact (benign or pathogenic) of the variant at chromosome 20, location 50935242, gene DPM1: what disease(s) if pathogenic?
|
benign
|
ATTGTGTGAATAACTAAAAAGATTTAAAAGGCAAACATTATCTACTCTAGTGAGTATCTGAGAAGGCAGTACTATCTATATTAGGTTCTCTAAGGTTGTTACTTAATTTCTGCTCCACATACTTGACACTGAGAACTCAACTTTGAGTTTAGGTTAAGAAAAAATAAATTCTAACCACTCCAAAAAAACTGAGAATATTACATTTCTATTATCTTAGCTTAAAACTAATTTCACATCAAGCACTGATGAATTTTCTTCTTGTTATGAATGAGAGAAGTTTCTTCCCTAAGGAAAGCAGTTCCCTCACTGGCCAGCTGGACAGTTCTGGACATAAGGGAAACAGAACAAGAGTGGCCCTTATTGGAATGTGTACTATGGGTTCAACTATAGAAGCGTGGGAGGGGGTGGTTTTAATGTTCGAAATGACACCACAGGTTTTATAGTCTGGGATTCATTTCTGGTAGAATCTGTCAGAGAGAAATGCAAATGAAAAATCAGATTTTCATTTTTTTTTCTTTTAAAAAAGACAGGGTCTCACTCTGTTGTCCAGGCATGATCACAGCTCACTGCAGCCTTGACCTCCCAGACTCAAGTGAACCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGAGTGCCACCACACCCAGCTTTTTTTATATTTTTGTAGAGACAGGATCTCCCTATGTTCCCTAGGCTGGTCTCAAATGCCTGTGCTCAAGCCATCCTCTTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGACATGGGCCATTGTGCTGGGCCTCAATTTCTTCAGCAGCCAAGTTAAGCCAGGAAAATGTAGTAATTAGGAATACTGTTCAATAAATAATTTAGAGACACCTCTTACTTTTATTTCCAGAAGAAAGTCAACTTAAACTTACTTGCTCAAAGCATGCCCTTACTCAAATTTTAAAAGATACTACATGACCATAACCTATGCTACAGTTAGAAATTAACTGATCTCTTCTGAAATACCTACTTTAGAGAAAGTGGGTAAACATAATATTTGCCCTGGCTTTATTGGATAGCTTAGCCCAAATTTTAACTGGCAGAACACTTTTCTAAATGGAGAGAAGAGCTTAAGGCAGAGATTTTTCAAATTAGTAGGGATGTGAGCTTTGCTGAGGGTCTTTAAATAATATGAAAACAAGTCTTTTGAGAAAAAAATTGTTATATAATTCAGTAAGATGTTTAAAAATTACTGTAGCAGCTAAGTTTCTGCCTCAGTGTCATTAATATTTTTCCTTACTGATAGAGGTTATTGCTCAAAAGAGAAAAAAACGGCTATGTAATCAACTGCTGTCAAATTGTTTCCCAATTCACAATATGCATTTTAAATAGACCTGCTTTGATAGATGAAATGTTTCATCAATTCAACAGCTGAAAAGAACCGAACTGTAAATGCCTGCTCTAAATGTATTTTCTAGTTTAAGAAATTTGAGATACATTTTTAAGGAAAGGGCAGAGGTGTGTATTTCTTTTTCAATTCATACAGACACAGCCATAAACATTTCATCAGTTAACATTATCTTACTTCTGAGATCAATTAGGTATAAAGATCTATGATTCCAGTTTTTAAAAAGACTATTTCAAATTATTCCCCATGTAAAAAATTCTACATTCACATACTCTAATGAAGGCAGCAATACTTTATGCAAAAAAAAATATACATTTATTTATAGGTCTCAATACAGCAAAATGAAAACGAAAATTGAGAACATTGCTCATTAGGCCAGCAACTTTAAAATTATTTAATTTGAAATATAAAATAGGTGGTCTTCATAAAAAGATGCATGAAATTTACCTTACCTTATATTTTATACTTTAAGAGTACATTTTATACAAATCAGTAACCAGGCTTCTTTCATGTTTAACCTGAAATGAACGTAACTATAAATGAGTATCTTTCTTTTATGTAGTAGCAAAAAGAGTCAATAATCCTTTCAAGAAAGATACTATTTCATTTCCTCCCAACTTGGATTCACCATAAACACGATCCACAAATGATATTGGAACCTAGTTTAAAAAAAAAAAAGTAACGTTAGTCTTTAAAAACAATTAGGCAGCTTAGCCGGTATACCACATTACCAACACAACAGAAATAGGATTAGTCCTACAACAGAGGTCCTTAAAGTAAGTATAAAATTAGGGGATTATGAAAGCAACTGTGTGTATCTCCAAGTCTTTAAAATTAAACATGCATTATCTAAAGATAGGTCACATGAAACAAATCTGCAACTGTTTAAAAAGCACTGATTCTAGGTATTACCTTGGTTTACTCAAGTTTCAGTTTGCATTTCAAGGAAAAATTATACTCCAAAAGTAAAATGGCCTTGTGCGTAGATTTTTCACTTGTCAAATTTAGCTACAATGGTTTAGCATTAAGTAAAATAGCTTGTAACTTCCACAAGAGAAGTGACATTCCATAGCTATTTTCTTGCTCTGAATAAGAGTTTTACTATTAAATGAGGAGAGTCTTCCCTACCCTAAGAGCTCACTAACGAGCCCTAAATATTACAGATCACCACCTCCTTGCTCTGTAATTCCTGGTCTTCTCTTACTAACAGGAAATGGACATATGGAACTCATCATTCATTTTAAAGTATGGTGGCCATTGGCGGTGACAAAAGGAAAAGAAGCAAAGAGACTCAGTCCATAATGCTGATTAGTTAGAAGAAAGGGCTAGGATTGAGAAAGTACCAGGAACTTTTAATTATTTAAAAGAGAATGCTGACTGTTAATGTTTTAAATCTTACTGTTCAAATGTACTAATATGAATTTTTACCCTTTGTGCATGAATATTCTAAACAACTAGAAGACCTCCACAATTTAGCAGTTATGAAAGTTAAACTTTTTATTATAAAAATTCTAAACCTTACTGCTCCTTTACCAGGAACATGACACACTATTTAGCATCAGTTGCATACCTCGCCAATAGTATAATTCAACTGTCTTGCCCGAACAATCATCTCCATCTGGAAGACGTAGCCTTTAGAAACACATTTTTCTATTAATTTCTCTAGAACTTCTTTTCGGTATAATCTGTAAGAAATTAAAAATATATATCAACTTCTGGATAAATACACATGCCTATGTATCCTGACCTTTCAAAGAGTTCACTGGTATGTATAAAGCCTAAAACTTTCACTGGCCATTGGTAAACAGAAAAGCTCGCACACTTGATGATTATGATACATTTGTCCTAAGCAAGAAAGGCCATTAAATATTTGCTAAATAACTTAGAATAATTGTGAAAATGAATTCTCAGTTATCTTTTTATAGAATTATTTTCCCACCATACTATCAGAAATTAGTGAAATACGGTAAAATGAATCATTTGATGCAGAACCATCCATTATTTAAGATTTCCCTAAAATTTAAAGTTGAAAGAAACTGTTCCAAATATTGAACAACAGGGTGGACAGATGATCATGAAGCAACTATATATGTTAGATGACAAGAAAGAACCTCATAATTCACAGTCATTTTCCAATAAATGTTTATGATGAGTTTTGATTTCTCATGATTTCCTTTATAAATTCCCCAGGATAAACTAAGTTGCTCTAGGATGAGCTTGGGAAGCTAGGTTAAAACAGGAACGAGGCATCACAGGATAGAAACAATCCTGGTGGGATTCACCTATCACCAGTTGAGGTCACAGTTAGACACTTAACAGTGGGTGAATGTGCAGCCTAACTTTAGATGGACTGCAGGCCAAACACCAGATTTACAAAGACAGCGGAGTTGGGCAGTCCAGTGGGTAGACCCAAGCACTTTCTTCAGTAACTAAATAGCAGGGAGCTCCGTATTTTCAGAGTCACACTTTTTTTTTTTTTTTTTTAAAGATCAGTGTCTCAGTTCATAGGGAGGCAGCAATTTCTACCTTTTTTTGTGGGGAGAGGGGAGAAAGCAAGAAGAGGCAGTTTGGTGTAACTTTGTTCTCTTCAAAGTTAAGGCCATCTGGACCTACTGTGCCTCAGGGTTTCACCCTGAATCCACATTTTTTTTCCCTCAGACTTCTAAGGCGACCTTATCTTTTGACTATGAAGTGGGTATAGGACAGCACAGC
|
ATTGTGTGAATAACTAAAAAGATTTAAAAGGCAAACATTATCTACTCTAGTGAGTATCTGAGAAGGCAGTACTATCTATATTAGGTTCTCTAAGGTTGTTACTTAATTTCTGCTCCACATACTTGACACTGAGAACTCAACTTTGAGTTTAGGTTAAGAAAAAATAAATTCTAACCACTCCAAAAAAACTGAGAATATTACATTTCTATTATCTTAGCTTAAAACTAATTTCACATCAAGCACTGATGAATTTTCTTCTTGTTATGAATGAGAGAAGTTTCTTCCCTAAGGAAAGCAGTTCCCTCACTGGCCAGCTGGACAGTTCTGGACATAAGGGAAACAGAACAAGAGTGGCCCTTATTGGAATGTGTACTATGGGTTCAACTATAGAAGCGTGGGAGGGGGTGGTTTTAATGTTCGAAATGACACCACAGGTTTTATAGTCTGGGATTCATTTCTGGTAGAATCTGTCAGAGAGAAATGCAAATGAAAAATCAGATTTTCATTTTTTTTTCTTTTAAAAAAGACAGGGTCTCACTCTGTTGTCCAGGCATGATCACAGCTCACTGCAGCCTTGACCTCCCAGACTCAAGTGAACCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGAGTGCCACCACACCCAGCTTTTTTTATATTTTTGTAGAGACAGGATCTCCCTATGTTCCCTAGGCTGGTCTCAAATGCCTGTGCTCAAGCCATCCTCTTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGACATGGGCCATTGTGCTGGGCCTCAATTTCTTCAGCAGCCAAGTTAAGCCAGGAAAATGTAGTAATTAGGAATACTGTTCAATAAATAATTTAGAGACACCTCTTACTTTTATTTCCAGAAGAAAGTCAACTTAAACTTACTTGCTCAAAGCATGCCCTTACTCAAATTTTAAAAGATACTACATGACCATAACCTATGCTACAGTTAGAAATTAACTGATCTCTTCTGAAATACCTACTTTAGAGAAAGTGGGTAAACATAATATTTGCCCTGGCTTTATTGGATAGCTTAGCCCAAATTTTAACTGGCAGAACACTTTTCTAAATGGAGAGAAGAGCTTAAGGCAGAGATTTTTCAAATTAGTAGGGATGTGAGCTTTGCTGAGGGTCTTTAAATAATATGAAAACAAGTCTTTTGAGAAAAAAATTGTTATATAATTCAGTAAGATGTTTAAAAATTACTGTAGCAGCTAAGTTTCTGCCTCAGTGTCATTAATATTTTTCCTTACTGATAGAGGTTATTGCTCAAAAGAGAAAAAAACGGCTATGTAATCAACTGCTGTCAAATTGTTTCCCAATTCACAATATGCATTTTAAATAGACCTGCTTTGATAGATGAAATGTTTCATCAATTCAACAGCTGAAAAGAACCGAACTGTAAATGCCTGCTCTAAATGTATTTTCTAGTTTAAGAAATTTGAGATACATTTTTAAGGAAAGGGCAGAGGTGTGTATTTCTTTTTCAATTCATACAGACACAGCCATAAACATTTCATCAGTTAACATTATCTTACTTCTGAGATCAATTAGGTATAAAGATCTATGATTCCAGTTTTTAAAAAGACTATTTCAAATTATTCCCCATGTAAAAAATTCTACATTCACATACTCTAATGAAGGCAGCAATACTTTATGCAAAAAAAAATATACATTTATTTATAGGTCTCAATACAGCAAAATGAAAACGAAAATTGAGAACATTGCTCATTAGGCCAGCAACTTTAAAATTATTTAATTTGAAATATAAAATAGGTGGTCTTCATAAAAAGATGCATGAAATTTACCTTACCTTATATTTTATACTTTAAGAGTACATTTTATACAAATCAGTAACCAGGCTTCTTTCATGTTTAACCTGAAATGAACGTAACTATAAATGAGTATCTTTCTTTTATGTAGTAGCAAAAAGAGTCAATAATCCTTTCAAGAAAGATACTATTTCATTTCCTCCCAACTTGGATTCACCATAAACACGATCCACAAATGATATTGGAACCTAGTTAATAAAAAAAAAAAAGTAACGTTAGTCTTTAAAAACAATTAGGCAGCTTAGCCGGTATACCACATTACCAACACAACAGAAATAGGATTAGTCCTACAACAGAGGTCCTTAAAGTAAGTATAAAATTAGGGGATTATGAAAGCAACTGTGTGTATCTCCAAGTCTTTAAAATTAAACATGCATTATCTAAAGATAGGTCACATGAAACAAATCTGCAACTGTTTAAAAAGCACTGATTCTAGGTATTACCTTGGTTTACTCAAGTTTCAGTTTGCATTTCAAGGAAAAATTATACTCCAAAAGTAAAATGGCCTTGTGCGTAGATTTTTCACTTGTCAAATTTAGCTACAATGGTTTAGCATTAAGTAAAATAGCTTGTAACTTCCACAAGAGAAGTGACATTCCATAGCTATTTTCTTGCTCTGAATAAGAGTTTTACTATTAAATGAGGAGAGTCTTCCCTACCCTAAGAGCTCACTAACGAGCCCTAAATATTACAGATCACCACCTCCTTGCTCTGTAATTCCTGGTCTTCTCTTACTAACAGGAAATGGACATATGGAACTCATCATTCATTTTAAAGTATGGTGGCCATTGGCGGTGACAAAAGGAAAAGAAGCAAAGAGACTCAGTCCATAATGCTGATTAGTTAGAAGAAAGGGCTAGGATTGAGAAAGTACCAGGAACTTTTAATTATTTAAAAGAGAATGCTGACTGTTAATGTTTTAAATCTTACTGTTCAAATGTACTAATATGAATTTTTACCCTTTGTGCATGAATATTCTAAACAACTAGAAGACCTCCACAATTTAGCAGTTATGAAAGTTAAACTTTTTATTATAAAAATTCTAAACCTTACTGCTCCTTTACCAGGAACATGACACACTATTTAGCATCAGTTGCATACCTCGCCAATAGTATAATTCAACTGTCTTGCCCGAACAATCATCTCCATCTGGAAGACGTAGCCTTTAGAAACACATTTTTCTATTAATTTCTCTAGAACTTCTTTTCGGTATAATCTGTAAGAAATTAAAAATATATATCAACTTCTGGATAAATACACATGCCTATGTATCCTGACCTTTCAAAGAGTTCACTGGTATGTATAAAGCCTAAAACTTTCACTGGCCATTGGTAAACAGAAAAGCTCGCACACTTGATGATTATGATACATTTGTCCTAAGCAAGAAAGGCCATTAAATATTTGCTAAATAACTTAGAATAATTGTGAAAATGAATTCTCAGTTATCTTTTTATAGAATTATTTTCCCACCATACTATCAGAAATTAGTGAAATACGGTAAAATGAATCATTTGATGCAGAACCATCCATTATTTAAGATTTCCCTAAAATTTAAAGTTGAAAGAAACTGTTCCAAATATTGAACAACAGGGTGGACAGATGATCATGAAGCAACTATATATGTTAGATGACAAGAAAGAACCTCATAATTCACAGTCATTTTCCAATAAATGTTTATGATGAGTTTTGATTTCTCATGATTTCCTTTATAAATTCCCCAGGATAAACTAAGTTGCTCTAGGATGAGCTTGGGAAGCTAGGTTAAAACAGGAACGAGGCATCACAGGATAGAAACAATCCTGGTGGGATTCACCTATCACCAGTTGAGGTCACAGTTAGACACTTAACAGTGGGTGAATGTGCAGCCTAACTTTAGATGGACTGCAGGCCAAACACCAGATTTACAAAGACAGCGGAGTTGGGCAGTCCAGTGGGTAGACCCAAGCACTTTCTTCAGTAACTAAATAGCAGGGAGCTCCGTATTTTCAGAGTCACACTTTTTTTTTTTTTTTTTTAAAGATCAGTGTCTCAGTTCATAGGGAGGCAGCAATTTCTACCTTTTTTTGTGGGGAGAGGGGAGAAAGCAAGAAGAGGCAGTTTGGTGTAACTTTGTTCTCTTCAAAGTTAAGGCCATCTGGACCTACTGTGCCTCAGGGTTTCACCCTGAATCCACATTTTTTTTCCCTCAGACTTCTAAGGCGACCTTATCTTTTGACTATGAAGTGGGTATAGGACAGCACA
|
benign
| 314,776 |
Chromosome 20, position 50935243, gene DPM1: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
TTGTGTGAATAACTAAAAAGATTTAAAAGGCAAACATTATCTACTCTAGTGAGTATCTGAGAAGGCAGTACTATCTATATTAGGTTCTCTAAGGTTGTTACTTAATTTCTGCTCCACATACTTGACACTGAGAACTCAACTTTGAGTTTAGGTTAAGAAAAAATAAATTCTAACCACTCCAAAAAAACTGAGAATATTACATTTCTATTATCTTAGCTTAAAACTAATTTCACATCAAGCACTGATGAATTTTCTTCTTGTTATGAATGAGAGAAGTTTCTTCCCTAAGGAAAGCAGTTCCCTCACTGGCCAGCTGGACAGTTCTGGACATAAGGGAAACAGAACAAGAGTGGCCCTTATTGGAATGTGTACTATGGGTTCAACTATAGAAGCGTGGGAGGGGGTGGTTTTAATGTTCGAAATGACACCACAGGTTTTATAGTCTGGGATTCATTTCTGGTAGAATCTGTCAGAGAGAAATGCAAATGAAAAATCAGATTTTCATTTTTTTTTCTTTTAAAAAAGACAGGGTCTCACTCTGTTGTCCAGGCATGATCACAGCTCACTGCAGCCTTGACCTCCCAGACTCAAGTGAACCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGAGTGCCACCACACCCAGCTTTTTTTATATTTTTGTAGAGACAGGATCTCCCTATGTTCCCTAGGCTGGTCTCAAATGCCTGTGCTCAAGCCATCCTCTTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGACATGGGCCATTGTGCTGGGCCTCAATTTCTTCAGCAGCCAAGTTAAGCCAGGAAAATGTAGTAATTAGGAATACTGTTCAATAAATAATTTAGAGACACCTCTTACTTTTATTTCCAGAAGAAAGTCAACTTAAACTTACTTGCTCAAAGCATGCCCTTACTCAAATTTTAAAAGATACTACATGACCATAACCTATGCTACAGTTAGAAATTAACTGATCTCTTCTGAAATACCTACTTTAGAGAAAGTGGGTAAACATAATATTTGCCCTGGCTTTATTGGATAGCTTAGCCCAAATTTTAACTGGCAGAACACTTTTCTAAATGGAGAGAAGAGCTTAAGGCAGAGATTTTTCAAATTAGTAGGGATGTGAGCTTTGCTGAGGGTCTTTAAATAATATGAAAACAAGTCTTTTGAGAAAAAAATTGTTATATAATTCAGTAAGATGTTTAAAAATTACTGTAGCAGCTAAGTTTCTGCCTCAGTGTCATTAATATTTTTCCTTACTGATAGAGGTTATTGCTCAAAAGAGAAAAAAACGGCTATGTAATCAACTGCTGTCAAATTGTTTCCCAATTCACAATATGCATTTTAAATAGACCTGCTTTGATAGATGAAATGTTTCATCAATTCAACAGCTGAAAAGAACCGAACTGTAAATGCCTGCTCTAAATGTATTTTCTAGTTTAAGAAATTTGAGATACATTTTTAAGGAAAGGGCAGAGGTGTGTATTTCTTTTTCAATTCATACAGACACAGCCATAAACATTTCATCAGTTAACATTATCTTACTTCTGAGATCAATTAGGTATAAAGATCTATGATTCCAGTTTTTAAAAAGACTATTTCAAATTATTCCCCATGTAAAAAATTCTACATTCACATACTCTAATGAAGGCAGCAATACTTTATGCAAAAAAAAATATACATTTATTTATAGGTCTCAATACAGCAAAATGAAAACGAAAATTGAGAACATTGCTCATTAGGCCAGCAACTTTAAAATTATTTAATTTGAAATATAAAATAGGTGGTCTTCATAAAAAGATGCATGAAATTTACCTTACCTTATATTTTATACTTTAAGAGTACATTTTATACAAATCAGTAACCAGGCTTCTTTCATGTTTAACCTGAAATGAACGTAACTATAAATGAGTATCTTTCTTTTATGTAGTAGCAAAAAGAGTCAATAATCCTTTCAAGAAAGATACTATTTCATTTCCTCCCAACTTGGATTCACCATAAACACGATCCACAAATGATATTGGAACCTAGTTTAAAAAAAAAAAAGTAACGTTAGTCTTTAAAAACAATTAGGCAGCTTAGCCGGTATACCACATTACCAACACAACAGAAATAGGATTAGTCCTACAACAGAGGTCCTTAAAGTAAGTATAAAATTAGGGGATTATGAAAGCAACTGTGTGTATCTCCAAGTCTTTAAAATTAAACATGCATTATCTAAAGATAGGTCACATGAAACAAATCTGCAACTGTTTAAAAAGCACTGATTCTAGGTATTACCTTGGTTTACTCAAGTTTCAGTTTGCATTTCAAGGAAAAATTATACTCCAAAAGTAAAATGGCCTTGTGCGTAGATTTTTCACTTGTCAAATTTAGCTACAATGGTTTAGCATTAAGTAAAATAGCTTGTAACTTCCACAAGAGAAGTGACATTCCATAGCTATTTTCTTGCTCTGAATAAGAGTTTTACTATTAAATGAGGAGAGTCTTCCCTACCCTAAGAGCTCACTAACGAGCCCTAAATATTACAGATCACCACCTCCTTGCTCTGTAATTCCTGGTCTTCTCTTACTAACAGGAAATGGACATATGGAACTCATCATTCATTTTAAAGTATGGTGGCCATTGGCGGTGACAAAAGGAAAAGAAGCAAAGAGACTCAGTCCATAATGCTGATTAGTTAGAAGAAAGGGCTAGGATTGAGAAAGTACCAGGAACTTTTAATTATTTAAAAGAGAATGCTGACTGTTAATGTTTTAAATCTTACTGTTCAAATGTACTAATATGAATTTTTACCCTTTGTGCATGAATATTCTAAACAACTAGAAGACCTCCACAATTTAGCAGTTATGAAAGTTAAACTTTTTATTATAAAAATTCTAAACCTTACTGCTCCTTTACCAGGAACATGACACACTATTTAGCATCAGTTGCATACCTCGCCAATAGTATAATTCAACTGTCTTGCCCGAACAATCATCTCCATCTGGAAGACGTAGCCTTTAGAAACACATTTTTCTATTAATTTCTCTAGAACTTCTTTTCGGTATAATCTGTAAGAAATTAAAAATATATATCAACTTCTGGATAAATACACATGCCTATGTATCCTGACCTTTCAAAGAGTTCACTGGTATGTATAAAGCCTAAAACTTTCACTGGCCATTGGTAAACAGAAAAGCTCGCACACTTGATGATTATGATACATTTGTCCTAAGCAAGAAAGGCCATTAAATATTTGCTAAATAACTTAGAATAATTGTGAAAATGAATTCTCAGTTATCTTTTTATAGAATTATTTTCCCACCATACTATCAGAAATTAGTGAAATACGGTAAAATGAATCATTTGATGCAGAACCATCCATTATTTAAGATTTCCCTAAAATTTAAAGTTGAAAGAAACTGTTCCAAATATTGAACAACAGGGTGGACAGATGATCATGAAGCAACTATATATGTTAGATGACAAGAAAGAACCTCATAATTCACAGTCATTTTCCAATAAATGTTTATGATGAGTTTTGATTTCTCATGATTTCCTTTATAAATTCCCCAGGATAAACTAAGTTGCTCTAGGATGAGCTTGGGAAGCTAGGTTAAAACAGGAACGAGGCATCACAGGATAGAAACAATCCTGGTGGGATTCACCTATCACCAGTTGAGGTCACAGTTAGACACTTAACAGTGGGTGAATGTGCAGCCTAACTTTAGATGGACTGCAGGCCAAACACCAGATTTACAAAGACAGCGGAGTTGGGCAGTCCAGTGGGTAGACCCAAGCACTTTCTTCAGTAACTAAATAGCAGGGAGCTCCGTATTTTCAGAGTCACACTTTTTTTTTTTTTTTTTTAAAGATCAGTGTCTCAGTTCATAGGGAGGCAGCAATTTCTACCTTTTTTTGTGGGGAGAGGGGAGAAAGCAAGAAGAGGCAGTTTGGTGTAACTTTGTTCTCTTCAAAGTTAAGGCCATCTGGACCTACTGTGCCTCAGGGTTTCACCCTGAATCCACATTTTTTTTCCCTCAGACTTCTAAGGCGACCTTATCTTTTGACTATGAAGTGGGTATAGGACAGCACAGCC
|
TTGTGTGAATAACTAAAAAGATTTAAAAGGCAAACATTATCTACTCTAGTGAGTATCTGAGAAGGCAGTACTATCTATATTAGGTTCTCTAAGGTTGTTACTTAATTTCTGCTCCACATACTTGACACTGAGAACTCAACTTTGAGTTTAGGTTAAGAAAAAATAAATTCTAACCACTCCAAAAAAACTGAGAATATTACATTTCTATTATCTTAGCTTAAAACTAATTTCACATCAAGCACTGATGAATTTTCTTCTTGTTATGAATGAGAGAAGTTTCTTCCCTAAGGAAAGCAGTTCCCTCACTGGCCAGCTGGACAGTTCTGGACATAAGGGAAACAGAACAAGAGTGGCCCTTATTGGAATGTGTACTATGGGTTCAACTATAGAAGCGTGGGAGGGGGTGGTTTTAATGTTCGAAATGACACCACAGGTTTTATAGTCTGGGATTCATTTCTGGTAGAATCTGTCAGAGAGAAATGCAAATGAAAAATCAGATTTTCATTTTTTTTTCTTTTAAAAAAGACAGGGTCTCACTCTGTTGTCCAGGCATGATCACAGCTCACTGCAGCCTTGACCTCCCAGACTCAAGTGAACCTCCCACCTCAGCCTCCCAAGTAGCTGGGACCACAGGTGAGTGCCACCACACCCAGCTTTTTTTATATTTTTGTAGAGACAGGATCTCCCTATGTTCCCTAGGCTGGTCTCAAATGCCTGTGCTCAAGCCATCCTCTTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGACATGGGCCATTGTGCTGGGCCTCAATTTCTTCAGCAGCCAAGTTAAGCCAGGAAAATGTAGTAATTAGGAATACTGTTCAATAAATAATTTAGAGACACCTCTTACTTTTATTTCCAGAAGAAAGTCAACTTAAACTTACTTGCTCAAAGCATGCCCTTACTCAAATTTTAAAAGATACTACATGACCATAACCTATGCTACAGTTAGAAATTAACTGATCTCTTCTGAAATACCTACTTTAGAGAAAGTGGGTAAACATAATATTTGCCCTGGCTTTATTGGATAGCTTAGCCCAAATTTTAACTGGCAGAACACTTTTCTAAATGGAGAGAAGAGCTTAAGGCAGAGATTTTTCAAATTAGTAGGGATGTGAGCTTTGCTGAGGGTCTTTAAATAATATGAAAACAAGTCTTTTGAGAAAAAAATTGTTATATAATTCAGTAAGATGTTTAAAAATTACTGTAGCAGCTAAGTTTCTGCCTCAGTGTCATTAATATTTTTCCTTACTGATAGAGGTTATTGCTCAAAAGAGAAAAAAACGGCTATGTAATCAACTGCTGTCAAATTGTTTCCCAATTCACAATATGCATTTTAAATAGACCTGCTTTGATAGATGAAATGTTTCATCAATTCAACAGCTGAAAAGAACCGAACTGTAAATGCCTGCTCTAAATGTATTTTCTAGTTTAAGAAATTTGAGATACATTTTTAAGGAAAGGGCAGAGGTGTGTATTTCTTTTTCAATTCATACAGACACAGCCATAAACATTTCATCAGTTAACATTATCTTACTTCTGAGATCAATTAGGTATAAAGATCTATGATTCCAGTTTTTAAAAAGACTATTTCAAATTATTCCCCATGTAAAAAATTCTACATTCACATACTCTAATGAAGGCAGCAATACTTTATGCAAAAAAAAATATACATTTATTTATAGGTCTCAATACAGCAAAATGAAAACGAAAATTGAGAACATTGCTCATTAGGCCAGCAACTTTAAAATTATTTAATTTGAAATATAAAATAGGTGGTCTTCATAAAAAGATGCATGAAATTTACCTTACCTTATATTTTATACTTTAAGAGTACATTTTATACAAATCAGTAACCAGGCTTCTTTCATGTTTAACCTGAAATGAACGTAACTATAAATGAGTATCTTTCTTTTATGTAGTAGCAAAAAGAGTCAATAATCCTTTCAAGAAAGATACTATTTCATTTCCTCCCAACTTGGATTCACCATAAACACGATCCACAAATGATATTGGAACCTAGTTTAAAAAAAAAAAAAGTAACGTTAGTCTTTAAAAACAATTAGGCAGCTTAGCCGGTATACCACATTACCAACACAACAGAAATAGGATTAGTCCTACAACAGAGGTCCTTAAAGTAAGTATAAAATTAGGGGATTATGAAAGCAACTGTGTGTATCTCCAAGTCTTTAAAATTAAACATGCATTATCTAAAGATAGGTCACATGAAACAAATCTGCAACTGTTTAAAAAGCACTGATTCTAGGTATTACCTTGGTTTACTCAAGTTTCAGTTTGCATTTCAAGGAAAAATTATACTCCAAAAGTAAAATGGCCTTGTGCGTAGATTTTTCACTTGTCAAATTTAGCTACAATGGTTTAGCATTAAGTAAAATAGCTTGTAACTTCCACAAGAGAAGTGACATTCCATAGCTATTTTCTTGCTCTGAATAAGAGTTTTACTATTAAATGAGGAGAGTCTTCCCTACCCTAAGAGCTCACTAACGAGCCCTAAATATTACAGATCACCACCTCCTTGCTCTGTAATTCCTGGTCTTCTCTTACTAACAGGAAATGGACATATGGAACTCATCATTCATTTTAAAGTATGGTGGCCATTGGCGGTGACAAAAGGAAAAGAAGCAAAGAGACTCAGTCCATAATGCTGATTAGTTAGAAGAAAGGGCTAGGATTGAGAAAGTACCAGGAACTTTTAATTATTTAAAAGAGAATGCTGACTGTTAATGTTTTAAATCTTACTGTTCAAATGTACTAATATGAATTTTTACCCTTTGTGCATGAATATTCTAAACAACTAGAAGACCTCCACAATTTAGCAGTTATGAAAGTTAAACTTTTTATTATAAAAATTCTAAACCTTACTGCTCCTTTACCAGGAACATGACACACTATTTAGCATCAGTTGCATACCTCGCCAATAGTATAATTCAACTGTCTTGCCCGAACAATCATCTCCATCTGGAAGACGTAGCCTTTAGAAACACATTTTTCTATTAATTTCTCTAGAACTTCTTTTCGGTATAATCTGTAAGAAATTAAAAATATATATCAACTTCTGGATAAATACACATGCCTATGTATCCTGACCTTTCAAAGAGTTCACTGGTATGTATAAAGCCTAAAACTTTCACTGGCCATTGGTAAACAGAAAAGCTCGCACACTTGATGATTATGATACATTTGTCCTAAGCAAGAAAGGCCATTAAATATTTGCTAAATAACTTAGAATAATTGTGAAAATGAATTCTCAGTTATCTTTTTATAGAATTATTTTCCCACCATACTATCAGAAATTAGTGAAATACGGTAAAATGAATCATTTGATGCAGAACCATCCATTATTTAAGATTTCCCTAAAATTTAAAGTTGAAAGAAACTGTTCCAAATATTGAACAACAGGGTGGACAGATGATCATGAAGCAACTATATATGTTAGATGACAAGAAAGAACCTCATAATTCACAGTCATTTTCCAATAAATGTTTATGATGAGTTTTGATTTCTCATGATTTCCTTTATAAATTCCCCAGGATAAACTAAGTTGCTCTAGGATGAGCTTGGGAAGCTAGGTTAAAACAGGAACGAGGCATCACAGGATAGAAACAATCCTGGTGGGATTCACCTATCACCAGTTGAGGTCACAGTTAGACACTTAACAGTGGGTGAATGTGCAGCCTAACTTTAGATGGACTGCAGGCCAAACACCAGATTTACAAAGACAGCGGAGTTGGGCAGTCCAGTGGGTAGACCCAAGCACTTTCTTCAGTAACTAAATAGCAGGGAGCTCCGTATTTTCAGAGTCACACTTTTTTTTTTTTTTTTTTAAAGATCAGTGTCTCAGTTCATAGGGAGGCAGCAATTTCTACCTTTTTTTGTGGGGAGAGGGGAGAAAGCAAGAAGAGGCAGTTTGGTGTAACTTTGTTCTCTTCAAAGTTAAGGCCATCTGGACCTACTGTGCCTCAGGGTTTCACCCTGAATCCACATTTTTTTTCCCTCAGACTTCTAAGGCGACCTTATCTTTTGACTATGAAGTGGGTATAGGACAGCACAGC
|
benign
| 314,778 |
The genetic variant at chromosome 20, position 50945875, affecting gene DPM1 (dolichyl-phosphate mannosyltransferase subunit 1, catalytic): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Congenital_disorder_of_glycosylation_type_1E', 'Inborn_genetic_diseases']
|
CCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCACACCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTCACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAAGCCTGAGTATTTTTAATTCTAACACATATTTTCCCAAATTTGAACACATATTTTCCAAAAGGGTTATAGCAACTTATACTTCCTTCAGCAATATTTGTGTGTCCATTTTTTACCATCTTATTGGTACTGGATATTACTACTGCTCTAAAAGTTTTTAACTTTGTTAAACTAATGGATAATAAAATGGTCACACACAGTTATTTTGTGTTTATTTCCTTGACTACATCCCAGGAAGAACGTCTTCTTTTATTAGCCATTTGGATTTCTTCTATAGATGGTCTGTTTGTATCTTTTTGCCCATTTTCTACTCTACAGGTTAAAGAGGCTTTTGTATACTGGAGATATAACCAAAAAAGGTCTAAGGTGACTTTACGCAGAGATTGAAGGATGAGCAGCAGATGGTCATCAAGGAGCATGGAAACAGCATTTCAGGCAAAGGAAAATGGAACTCTGTGAACTCAGAAGCATGCTATGGCATGGAAAGCAAAAAGGAAGGAGCACAAGGCAGAGGTCAGAAAGGGAGGCAGGGGCCAACAAACACATAGGGGCTTGAGGGACAAGGGAAGGAACTTGGATTTTTCCCTAGATGTTAGTGGGAACTCCCTGAACTCCCTGAACTGGAGGGACAATAATCTGATTCTGTTTTTATGTATCTAGCTTAAACTCAGAACAGCTTCCAAAATCTTATTCACAGAGGTTTTGTGGTCTTTTGGGCTAAGAATTTAATTATATTGCCTACAAACAAATATAACTGTGTATATTTTACTAACATTTAACTAAATTCTTATCTTACTGTATTAACATTTCCATGTTTAATGATAGCTAGCATGCCTGTATTAATGCATGTATTGGAAATGATTCAGCATTTCACTATTTGGTGTGGTATTTGTATTAGGACTGGGTTATTTTTATTATGCTTAAGAGGTTTCCTTCTATTCTTAAAGTTTTAACTAGAAAATGGTAGTAAATAATATCTCCTTTAGCATCTACAGACTTAACCACACTACTTTGTTAACATAATGAATGAATTATAAGTGATTACCAATAATGAGCCATTCTGGCATTCCTGGAATAAACCCTTTTGTTCACGGTGTTTTATTCTAATAACTCAAGGCTTAATTCCATTTATCAGAGAAGCCATCTTCCACCTTTTTCTGTGGTCTGAAAGAATTCAGATAACGAACTACCTGTTGATTTGCTCCTCAGGACTCCTAAAATACATCATTTAGTCTCAAATGTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTACTATCTATACAGATAAATATTTTAGAGACAAGGTCTCACTCTGTCTCAGGGTCACCAAGACTAGAATGGAGAGGCATGATCATAGCTCACTGCAGCCTTGAAGTCCTGGGCTCATGTCATCCTCCCACCTGAGCCGCCTGAGTAGCTGGGACTACAGGCGCATGCCATTGTGTCTGGCTAATTTTTGTTATTTTTTTTGTAGAGACAAGTACTTGTTTTGTTGCCCAGGCTGGTCTCAAACTGCTGACTTCAAGCAACCCTCCTACCCTGACTTCCCAAACTTTGTTTATATTTTTGATAGAAAAAATAGTATGTGTATTTTTGATTAATAAAAAATGAAAATAAGCCCAAAACCAGTAAGATAAATGTTTCCAGTCATATTTCTTTCAAATATTAGAAATAGTACCTACCTAATAAATTCAGGAATAAATTTTGGCTGAAATTTGAAAAGAATAAACAGTAAGTCAGTAAAACAGGCTAAGACTACCATAAATAGCTAATAAAGAAACATACCACTTACATGGTGTGAGAGATCAGCATCCATAATAATGATGTAGTTTCCTGTGGCATGTTTCATTCCATGAATATATGCAGTTCCTAAAAATGAAAGTAGATCCATTCAAGAAAATCAACAGAAATCTTTACATATACATTTGAACATCAAGGAAATTGTTTAGCACCTGAAGAGCACACATTAGTTCTCTAAAAGTCAGATTAATAAATTGGTATTTTTCACCTTAAGTACATAAGTTCATGTATATTACATATATAATCAAGAAGGTAGCTGGCCACACACCCCCATTCAGATGTCAATTTAATACAATAGATCATACCTCTATTTCAGTATAGCAAAGAAATAGTTTATAAGTTCAAAAGTCTAAGATTATGTAGCACAATTATCACATTCTCATGCTTTAAAAACCCATCTGGTGTTTCCTTGGCATCCCCCTAAGACACTGATGAGCTCCACATTTACAAATCAGCTTCCTACTTAATATCTCCACTTGGGTATTTCAGAAATCTCAAAGATAACATTGCAAAATCATCTTCCAATTCTCTACCTCTCTCTTACAGGCCACCTCTCCAGGAAAGGCACCAACTATCCAACTGCTCCATCCACAGGTCTAGAGATGATTCTTGATTTCCTGCCTTTAACCATAACTTCTAAACTGTAATTAAGTCCTATTGATTCTCCATCCAAAACATTTCAATTCCCTTTTTCTTGTCTTTTACACCGTAAACCTGGTACGCTAGACCCTTGCTCTGGTATTTGGGGCCAAAGGCCTAGGTGACAATTACTCAGCCAGCTCCATGCCTCAAAGTCCCACAGGGACTTGGCAGGCTAGGGTAACTTGTTAGGAGCAGGACTTGGGGATTCCTGCATTCTCTAGTCCAGACCCCTCACAAGTGTCTTATGAGCAAGGCTGAACTCTTCTAACTTATTTTGTTAAGAAGTGAATATCGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGTGGATCACTGGAGGTCAGGGAGTTTGAGACTAGCCTAACCAACATGGCAAAACCTCATCTCTACTAAAAATACAAAAAATTGGCCAGGCGCAGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATCTGAGGTCGGGAATTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACCAAAAATACAAAATTAGCTGGGCATGGTGGTGCATGCCTACAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATCGCGGTGAGCCGAGATCGCGTCATCGCACCCCAGCCTGGGCAAGAAGAGCGAAACTCCGTCTCAAACAAACAAAAATTAGCCGGGCATGGTGGTACACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATGGCTCAAACCCAGCAGGCAGGGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGGATCAGAGTAAGACTGTCTCAGAAAGATAAAGGAGTGAATATTTACACTTTTTGGTTTCATGGCAGTTTCCAGATTTTTTTGAATCCCAAAGAATCTTCTGGGTTCAGATACTGAGAACATTTGATGCTTGGGAATTGATGGTCTTCAAGATAGCAGACTCCAGTTAAGCATTGTGCTTTCTTCATGTTAAGTTTTAGCACAAATAAAGGCAGAGTTTCCTCTCAGAATTACTGAGCTCATATGAGCTTTTCAATAATGCTGTATGTTTAAAAGCTGGAAAAGCTTCCTTTTTTAAAAATAAAGAATAACTGTTTTTATCACTAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCATTGCAACCTCTGCCTCCTGAGTTCAAGCGACTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGATGCGCGTCACGACGCCCAGCTAATTTTTGTATTTTTAGTAGGGATGGGGTTTTACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGCTCTGCCCACCTCGGCCTCCCAAAGTGCTAAGATTACATTTGTGAGCCACTGTGCCC
|
CCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCACACCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTCACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAAGCCTGAGTATTTTTAATTCTAACACATATTTTCCCAAATTTGAACACATATTTTCCAAAAGGGTTATAGCAACTTATACTTCCTTCAGCAATATTTGTGTGTCCATTTTTTACCATCTTATTGGTACTGGATATTACTACTGCTCTAAAAGTTTTTAACTTTGTTAAACTAATGGATAATAAAATGGTCACACACAGTTATTTTGTGTTTATTTCCTTGACTACATCCCAGGAAGAACGTCTTCTTTTATTAGCCATTTGGATTTCTTCTATAGATGGTCTGTTTGTATCTTTTTGCCCATTTTCTACTCTACAGGTTAAAGAGGCTTTTGTATACTGGAGATATAACCAAAAAAGGTCTAAGGTGACTTTACGCAGAGATTGAAGGATGAGCAGCAGATGGTCATCAAGGAGCATGGAAACAGCATTTCAGGCAAAGGAAAATGGAACTCTGTGAACTCAGAAGCATGCTATGGCATGGAAAGCAAAAAGGAAGGAGCACAAGGCAGAGGTCAGAAAGGGAGGCAGGGGCCAACAAACACATAGGGGCTTGAGGGACAAGGGAAGGAACTTGGATTTTTCCCTAGATGTTAGTGGGAACTCCCTGAACTCCCTGAACTGGAGGGACAATAATCTGATTCTGTTTTTATGTATCTAGCTTAAACTCAGAACAGCTTCCAAAATCTTATTCACAGAGGTTTTGTGGTCTTTTGGGCTAAGAATTTAATTATATTGCCTACAAACAAATATAACTGTGTATATTTTACTAACATTTAACTAAATTCTTATCTTACTGTATTAACATTTCCATGTTTAATGATAGCTAGCATGCCTGTATTAATGCATGTATTGGAAATGATTCAGCATTTCACTATTTGGTGTGGTATTTGTATTAGGACTGGGTTATTTTTATTATGCTTAAGAGGTTTCCTTCTATTCTTAAAGTTTTAACTAGAAAATGGTAGTAAATAATATCTCCTTTAGCATCTACAGACTTAACCACACTACTTTGTTAACATAATGAATGAATTATAAGTGATTACCAATAATGAGCCATTCTGGCATTCCTGGAATAAACCCTTTTGTTCACGGTGTTTTATTCTAATAACTCAAGGCTTAATTCCATTTATCAGAGAAGCCATCTTCCACCTTTTTCTGTGGTCTGAAAGAATTCAGATAACGAACTACCTGTTGATTTGCTCCTCAGGACTCCTAAAATACATCATTTAGTCTCAAATGTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTACTATCTATACAGATAAATATTTTAGAGACAAGGTCTCACTCTGTCTCAGGGTCACCAAGACTAGAATGGAGAGGCATGATCATAGCTCACTGCAGCCTTGAAGTCCTGGGCTCATGTCATCCTCCCACCTGAGCCGCCTGAGTAGCTGGGACTACAGGCGCATGCCATTGTGTCTGGCTAATTTTTGTTATTTTTTTTGTAGAGACAAGTACTTGTTTTGTTGCCCAGGCTGGTCTCAAACTGCTGACTTCAAGCAACCCTCCTACCCTGACTTCCCAAACTTTGTTTATATTTTTGATAGAAAAAATAGTATGTGTATTTTTGATTAATAAAAAATGAAAATAAGCCCAAAACCAGTAAGATAAATGTTTCCAGTCATATTTCTTTCAAATATTAGAAATAGTACCTACCTAATAAATTCAGGAATAAATTTTGGCTGAAATTTGAAAAGAATAAACAGTAAGTCAGTAAAACAGGCTAAGACTACCATAAATAGCTAATAAAGAAACATACCACTTACATGGTGTGAGAGATCAGCATCCATAATAATGTGGCATGTTTCATTCCATGAATATATGCAGTTCCTAAAAATGAAAGTAGATCCATTCAAGAAAATCAACAGAAATCTTTACATATACATTTGAACATCAAGGAAATTGTTTAGCACCTGAAGAGCACACATTAGTTCTCTAAAAGTCAGATTAATAAATTGGTATTTTTCACCTTAAGTACATAAGTTCATGTATATTACATATATAATCAAGAAGGTAGCTGGCCACACACCCCCATTCAGATGTCAATTTAATACAATAGATCATACCTCTATTTCAGTATAGCAAAGAAATAGTTTATAAGTTCAAAAGTCTAAGATTATGTAGCACAATTATCACATTCTCATGCTTTAAAAACCCATCTGGTGTTTCCTTGGCATCCCCCTAAGACACTGATGAGCTCCACATTTACAAATCAGCTTCCTACTTAATATCTCCACTTGGGTATTTCAGAAATCTCAAAGATAACATTGCAAAATCATCTTCCAATTCTCTACCTCTCTCTTACAGGCCACCTCTCCAGGAAAGGCACCAACTATCCAACTGCTCCATCCACAGGTCTAGAGATGATTCTTGATTTCCTGCCTTTAACCATAACTTCTAAACTGTAATTAAGTCCTATTGATTCTCCATCCAAAACATTTCAATTCCCTTTTTCTTGTCTTTTACACCGTAAACCTGGTACGCTAGACCCTTGCTCTGGTATTTGGGGCCAAAGGCCTAGGTGACAATTACTCAGCCAGCTCCATGCCTCAAAGTCCCACAGGGACTTGGCAGGCTAGGGTAACTTGTTAGGAGCAGGACTTGGGGATTCCTGCATTCTCTAGTCCAGACCCCTCACAAGTGTCTTATGAGCAAGGCTGAACTCTTCTAACTTATTTTGTTAAGAAGTGAATATCGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGTGGATCACTGGAGGTCAGGGAGTTTGAGACTAGCCTAACCAACATGGCAAAACCTCATCTCTACTAAAAATACAAAAAATTGGCCAGGCGCAGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATCTGAGGTCGGGAATTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACCAAAAATACAAAATTAGCTGGGCATGGTGGTGCATGCCTACAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGATCGCGGTGAGCCGAGATCGCGTCATCGCACCCCAGCCTGGGCAAGAAGAGCGAAACTCCGTCTCAAACAAACAAAAATTAGCCGGGCATGGTGGTACACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATGGCTCAAACCCAGCAGGCAGGGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGGATCAGAGTAAGACTGTCTCAGAAAGATAAAGGAGTGAATATTTACACTTTTTGGTTTCATGGCAGTTTCCAGATTTTTTTGAATCCCAAAGAATCTTCTGGGTTCAGATACTGAGAACATTTGATGCTTGGGAATTGATGGTCTTCAAGATAGCAGACTCCAGTTAAGCATTGTGCTTTCTTCATGTTAAGTTTTAGCACAAATAAAGGCAGAGTTTCCTCTCAGAATTACTGAGCTCATATGAGCTTTTCAATAATGCTGTATGTTTAAAAGCTGGAAAAGCTTCCTTTTTTAAAAATAAAGAATAACTGTTTTTATCACTAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCATTGCAACCTCTGCCTCCTGAGTTCAAGCGACTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGATGCGCGTCACGACGCCCAGCTAATTTTTGTATTTTTAGTAGGGATGGGGTTTTACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGCTCTGCCCACCTCGGCCTCCCAAAGTGCTAAGATTACATTTGTGAGCCACTGTGCCCNNNNNNNNNNNNN
|
pathogenic
| 314,786 |
The mutation impacting SALL4 (spalt like transcription factor 4) on chromosome 20 at position 51790423: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
benign
|
TATGTTGCCAGGCTGGTCTCAAACTCCTGGACTCAGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGATCAGGAGATCGAGACCATCCTGGCTAACGCGGTGAAACCCCACCTCTACTAAAAATACAAAAAAATTAGCCGGCCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGAGGAGCTTGCAGTGAGCTTGAGCTTGAGATGGCGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACTCCGTCTCAAAAATAAATAAATAAATAAACAAACTCCTGGACTCAAGCAATCCTCCCACCTCGGCCTCCCAAAGGAGGAATGGAAGGATGGAAGAACTCATCACGGCTTGTGCCAATAAGAAGACACCTGGTGCCTAGCCCCCATCCTGCTGAAAGCCCACACAAACCCACCTTTAAGTTGCCTTTGGTGGTAAAAGCTCGCCCACAAATGTTGCACACAAAAGGCTTCTCTCCAGTGTGAGTCCGCTCGTGGATCTGAAGAGCGCTAGCAGACGAGAAGTTCTTCCCACACCGTGTGCAGCCATGTTGCTTGGCCTGTCGGCGTGGCTGGGCTGCTAACAAAGGGGTCATCCCTGGGGACAATGTCGAGGGTCCCACAAATGTGCCAGGAACTTCAACCTTGACATAGGTCGGCGGGGCTCGGATAAACGTGGAAGGGAGACTGCTCCGACCTAGTACACAGAGGGGAAAAAAGCCAGACCTTTATCATCCAACCTTCATTCTTTCTCTTCAAAGCAAAAGAGATCTTTAAAAATAACTGCCTGCTAGTTTGAGAGTCTGGAGCTGGCTTTGTAAGTAATTAACACCTTCCCCTTTGAATTGTTTATCTGCACAAAGAATAAAGCTTCAAATGCTTGGGAAAAGGTATCACTTTGGGTTTTTTTTTTTTAAAGGCATGGGCAACATATAAACACATATGTAATTTAAGTTCAAATTTCTGCATAAGAAACTACCTTTAAAGCATATGCCCAGACACCATCTTTCTTTGATTCTTTGATACAGCTTTTCCCTTATTTTACCATTAATGACATCAACAAACCTCTCAATAGATATGTGCATTTAAAATGGGTTCATCTTTCCCTGCTTCAAGAGTGGCTAATTTGTGAACATTACATCAGGCAGTGGGGCCTCAGAGTCAGGGAACCACGGCTTATTTCAGTGGTCAAAAAGCAGTGGCCACTTCCTCAAACATACTCTTAAGACACCCATATACAGAATCATAGTGTGGAGAAACAAAAAGAAAAAAACTATAACAAAATAGAACGACTACCCACCCCTATGTCCCAAGGGGCTCAAAGACAAAAATAAAAACCAACAAAAAAGGTATGCTGTCCATACCCATTTTGCATTAACCATCATAAATTAAAAGCATGTTCGTTACTAGGATAGAGGCAGTTACTATTGCCCTCTACCCAGAAGTAAAGAAAAGCTAATTGCCCTATAGAAGGGGCTGCTTCAAGTCATACTCTCCGTTTGTAAAGTTCAACCCAGGCTCCTTTTTGATGACCTTGAGCCCAAAATGGACATAAGTTAAATCCAAAGCTCTATCACCTTCCATCTCAGTGCGGCTGTTCTCGGAGCTCTCTGCTTTGCTCCCAGCATCGGGAGACTTTGACTTGATGCTTTCGGCTTGACTATTGGCCGGGGAGAGTGCCTGGAAGGATGTGGTTTCCAGGATATCTGGGCTTCGGCTCTGATACTCCTGGTCTCCCATCAGCGAGGATGAGTCGTTGGTCAAGCCATCGCTCTCCACGGAACCGTTTTCTCTGCTGCCCTGGCGCTGCAGGTTAAAAGGGGCAGGACCCACTTTCCCTGGGGCATCTAAGGAAGCCATCATGGCAAACCCTAGCGTGGGTGATGCCGAGTGGATGCTGGGAAGAGGCGTGGGGACCTTGGAGGAGCTGCTGGGAGCCTCCTGGGAGCTGACTTCCTCTACATCGATGCTTTCGATGACATCATCATGGCAGATAGCGCCGGTGCTGCCGTTCTCACCCACGGTCATTGGCTCAGAACCCGTAAAGTCACAGGGATTCTCTGGCAGGGGCGTGTTGGGAATCTGACCGCCCATGTGCATCCGAATATGTTGCTGCAGCATCACGGCATTAGTGAACTTCTTCTGGCAGATGGGGCACGAATGCTGCGTCTTAATGGATGTGTTGGTTCGGTGAACCCCAAGGTGTGTCTTCAGGTTACCTTTGGTAGAAAAGGCTCGGCCACAGATCTTACACTGGAACGGTCTCTCCCCGGTGTGGGTGCGATAATGCATCTTGAGGGAGCTCTGACAGCTTAAGACTCGGTGGCAAATGAGACATTCGTTGGGATCAGTGGTGGCCTTGTCAATGTTCTCCACCAACTGCTGCAATTTCAGGGTCTCTGACCCTGGCTCAGGGGTCCCACTCCCTTGGAAGCCACCAGCCCTTGGGGAATTATAGTTTGGTCCCACCCCAGGGAGTGTGGGTCCACCCTCACTTTCTGGAGAAGGCCCAGGCTGCAGGTCACCGGGCAAGGAGCCACCCGTGAGGTCCTTGGGATTAGTCCCCGAAGAAAGATTCTGAGGTAGCCCTACAGAGGTGGTTACAAGGACAGGTTTGCTGTCTAAAGAAAGACTCGGTTCATCTATGGGGTCAGGTACAGAGAGTGCATAGGGGATGCCATTGCCGGCCGCCACTTTGTCCTGGAACTCGGCAAACAGCTGGGGGTTTGCCTTCACCTGGGGATGTCGGTGAAAGTGCACCTTGAGGTTGCCCTTGGTGGTGAAGCGATGACCACAGACAGAGCACACGAAGGGTCTCTCTCCAGTGTGGGAGCGGAGGTGGATCTGCAAGGAGCTATCAGTCCCAAAAACCTTGCTACAGTACTTACACTTGTGCTTGTAGAGGGCCGCCTCGTCTTTGGGTTTGACATCCACCGCGGAGATGTTCGGTGGCTTCCCCTTCCCTTTCTTGGATGTGTCTAGCGCCACAGTGGAGAAAGGGCTCTGGAAGAGCACCGAGCCCGGGGCCTGAGGAAGCAAAGCGCTCGGGAGGCGGGACATGACGTTCGGGAGCACCCGGGTCCCATCCGGCTTCAGAGTGAAGGGTGCCAGCCCTGGGGACAGGGAGCTGGTGGCAGAAGGGATGTTGGCGTGAGGTAGCTTGGCTTGTTTCAAGGCATCCAGAGACAGACCTTGGCTTCCAGCTTTCTGGCTGAGCAAAGCCACAGCTGCAGAAACCTGCTGAGACATGTGGCTGCCCAAGGTCTTCAGAGTGTCGGCCCCTGCCCCGCTTGAGTGGAGGGCGTGGGAGGCCCACATGTTCACCTGGATGCGGATCTGCTCGGTGAGCTGGATCTGCTGTAGCTGCTGCTGCTGCAGACACAAGATCTGCTCGAGGACCCACGGGATGCTGTTGGCACCAGGCACGGGGGCAGGGAGTGCATCCGCGCTCCGCTGATTCACCGCCACCTTGGTGCCCCGTAGTGCCTGCAAGGTCACATTAGTGTTGGCCACTTTGCCTTTGGCTAAATAGCTTATGTCCTGGGGGGTGGGTGGCAGGGCTGTCTCTGTCTTTAGGTACACCACAGACTCCGCATCCGGCTTCTCCTTCATGTCCTCTGAGCTGCCGCCATTCTCCCTGTGACAGTCCTTACTGCCGGGACTGGTGGGCTGGTGGCTCAGTACAGCTCCGGAGAAGTCTTCTGAAGGCACAGGCCCCTCGCTGTCATTCATGATGAGGACAGGTGGATTTTTAGTGCAATTTTTCTTATGTTCCAGGAACTCAGAGATGCTGAAGAACTCCGCACAGCATTTCTCACAGACGTGCGTCTCCTCCCGACGAAGCCGCTTTACTGTGGCTTCATCCTCACTCGCCACCTCGTCATTCCCTGGGTGGTTCACTGGAGCACCTGTAACAAGACAGAAAAAGCTAAGGACTCTGCCCAAGTAAAAGATGTGGGGGGAGCCGGGCACCGTCGCTCACATCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATCAC
|
TATGTTGCCAGGCTGGTCTCAAACTCCTGGACTCAGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGATCAGGAGATCGAGACCATCCTGGCTAACGCGGTGAAACCCCACCTCTACTAAAAATACAAAAAAATTAGCCGGCCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGAGGAGCTTGCAGTGAGCTTGAGCTTGAGATGGCGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACTCCGTCTCAAAAATAAATAAATAAATAAACAAACTCCTGGACTCAAGCAATCCTCCCACCTCGGCCTCCCAAAGGAGGAATGGAAGGATGGAAGAACTCATCACGGCTTGTGCCAATAAGAAGACACCTGGTGCCTAGCCCCCATCCTGCTGAAAGCCCACACAAACCCACCTTTAAGTTGCCTTTGGTGGTAAAAGCTCGCCCACAAATGTTGCACACAAAAGGCTTCTCTCCAGTGTGAGTCCGCTCGTGGATCTGAAGAGCGCTAGCAGACGAGAAGTTCTTCCCACACCGTGTGCAGCCATGTTGCTTGGCCTGTCGGCGTGGCTGGGCTGCTAACAAAGGGGTCATCCCTGGGGACAATGTCGAGGGTCCCACAAATGTGCCAGGAACTTCAACCTTGACATAGGTCGGCGGGGCTCGGATAAACGTGGAAGGGAGACTGCTCCGACCTAGTACACAGAGGGGAAAAAAGCCAGACCTTTATCATCCAACCTTCATTCTTTCTCTTCAAAGCAAAAGAGATCTTTAAAAATAACTGCCTGCTAGTTTGAGAGTCTGGAGCTGGCTTTGTAAGTAATTAACACCTTCCCCTTTGAATTGTTTATCTGCACAAAGAATAAAGCTTCAAATGCTTGGGAAAAGGTATCACTTTGGGTTTTTTTTTTTTAAAGGCATGGGCAACATATAAACACATATGTAATTTAAGTTCAAATTTCTGCATAAGAAACTACCTTTAAAGCATATGCCCAGACACCATCTTTCTTTGATTCTTTGATACAGCTTTTCCCTTATTTTACCATTAATGACATCAACAAACCTCTCAATAGATATGTGCATTTAAAATGGGTTCATCTTTCCCTGCTTCAAGAGTGGCTAATTTGTGAACATTACATCAGGCAGTGGGGCCTCAGAGTCAGGGAACCACGGCTTATTTCAGTGGTCAAAAAGCAGTGGCCACTTCCTCAAACATACTCTTAAGACACCCATATACAGAATCATAGTGTGGAGAAACAAAAAGAAAAAAACTATAACAAAATAGAACGACTACCCACCCCTATGTCCCAAGGGGCTCAAAGACAAAAATAAAAACCAACAAAAAAGGTATGCTGTCCATACCCATTTTGCATTAACCATCATAAATTAAAAGCATGTTCGTTACTAGGATAGAGGCAGTTACTATTGCCCTCTACCCAGAAGTAAAGAAAAGCTAATTGCCCTATAGAAGGGGCTGCTTCAAGTCATACTCTCCGTTTGTAAAGTTCAACCCAGGCTCCTTTTTGATGACCTTGAGCCCAAAATGGACATAAGTTAAATCCAAAGCTCTATCACCTTCCATCTCAGTGCGGCTGTTCTCGGAGCTCTCTGCTTTGCTCCCAGCATCGGGAGACTTTGACTTGATGCTTTCGGCTTGACTATTGGCCGGGGAGAGTGCCTGGAAGGATGTGGTTTCCAGGATATCTGGGCTTCGGCTCTGATACTCCTGGTCTCCCATCAGCGAGGATGAGTCGTTGGTCAAGCCATCGCTCTCCACGGAACCGTTTTCTCTGCTGCCCTGGCGCTGCAGGTTAAAAGGGGCAGGACCCACTTTCCCTGGGGCATCTAAGGAAGCCATCATGGCAAACCCTAGCGTGGGTGATGCCGAGTGGATGCTGGGAAGAGGCGTGGGGACCTTGGAGGAGCTGCTGGGAGCCTCCTGGGAGCTGACTTCCTCTACATCGATGCTTTCGATGACATCATGGCAGATAGCGCCGGTGCTGCCGTTCTCACCCACGGTCATTGGCTCAGAACCCGTAAAGTCACAGGGATTCTCTGGCAGGGGCGTGTTGGGAATCTGACCGCCCATGTGCATCCGAATATGTTGCTGCAGCATCACGGCATTAGTGAACTTCTTCTGGCAGATGGGGCACGAATGCTGCGTCTTAATGGATGTGTTGGTTCGGTGAACCCCAAGGTGTGTCTTCAGGTTACCTTTGGTAGAAAAGGCTCGGCCACAGATCTTACACTGGAACGGTCTCTCCCCGGTGTGGGTGCGATAATGCATCTTGAGGGAGCTCTGACAGCTTAAGACTCGGTGGCAAATGAGACATTCGTTGGGATCAGTGGTGGCCTTGTCAATGTTCTCCACCAACTGCTGCAATTTCAGGGTCTCTGACCCTGGCTCAGGGGTCCCACTCCCTTGGAAGCCACCAGCCCTTGGGGAATTATAGTTTGGTCCCACCCCAGGGAGTGTGGGTCCACCCTCACTTTCTGGAGAAGGCCCAGGCTGCAGGTCACCGGGCAAGGAGCCACCCGTGAGGTCCTTGGGATTAGTCCCCGAAGAAAGATTCTGAGGTAGCCCTACAGAGGTGGTTACAAGGACAGGTTTGCTGTCTAAAGAAAGACTCGGTTCATCTATGGGGTCAGGTACAGAGAGTGCATAGGGGATGCCATTGCCGGCCGCCACTTTGTCCTGGAACTCGGCAAACAGCTGGGGGTTTGCCTTCACCTGGGGATGTCGGTGAAAGTGCACCTTGAGGTTGCCCTTGGTGGTGAAGCGATGACCACAGACAGAGCACACGAAGGGTCTCTCTCCAGTGTGGGAGCGGAGGTGGATCTGCAAGGAGCTATCAGTCCCAAAAACCTTGCTACAGTACTTACACTTGTGCTTGTAGAGGGCCGCCTCGTCTTTGGGTTTGACATCCACCGCGGAGATGTTCGGTGGCTTCCCCTTCCCTTTCTTGGATGTGTCTAGCGCCACAGTGGAGAAAGGGCTCTGGAAGAGCACCGAGCCCGGGGCCTGAGGAAGCAAAGCGCTCGGGAGGCGGGACATGACGTTCGGGAGCACCCGGGTCCCATCCGGCTTCAGAGTGAAGGGTGCCAGCCCTGGGGACAGGGAGCTGGTGGCAGAAGGGATGTTGGCGTGAGGTAGCTTGGCTTGTTTCAAGGCATCCAGAGACAGACCTTGGCTTCCAGCTTTCTGGCTGAGCAAAGCCACAGCTGCAGAAACCTGCTGAGACATGTGGCTGCCCAAGGTCTTCAGAGTGTCGGCCCCTGCCCCGCTTGAGTGGAGGGCGTGGGAGGCCCACATGTTCACCTGGATGCGGATCTGCTCGGTGAGCTGGATCTGCTGTAGCTGCTGCTGCTGCAGACACAAGATCTGCTCGAGGACCCACGGGATGCTGTTGGCACCAGGCACGGGGGCAGGGAGTGCATCCGCGCTCCGCTGATTCACCGCCACCTTGGTGCCCCGTAGTGCCTGCAAGGTCACATTAGTGTTGGCCACTTTGCCTTTGGCTAAATAGCTTATGTCCTGGGGGGTGGGTGGCAGGGCTGTCTCTGTCTTTAGGTACACCACAGACTCCGCATCCGGCTTCTCCTTCATGTCCTCTGAGCTGCCGCCATTCTCCCTGTGACAGTCCTTACTGCCGGGACTGGTGGGCTGGTGGCTCAGTACAGCTCCGGAGAAGTCTTCTGAAGGCACAGGCCCCTCGCTGTCATTCATGATGAGGACAGGTGGATTTTTAGTGCAATTTTTCTTATGTTCCAGGAACTCAGAGATGCTGAAGAACTCCGCACAGCATTTCTCACAGACGTGCGTCTCCTCCCGACGAAGCCGCTTTACTGTGGCTTCATCCTCACTCGCCACCTCGTCATTCCCTGGGTGGTTCACTGGAGCACCTGTAACAAGACAGAAAAAGCTAAGGACTCTGCCCAAGTAAAAGATGTGGGGGGAGCCGGGCACCGTCGCTCACATCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACNNN
|
benign
| 314,842 |
Clinically, how would you classify the variant at chromosome 20, position 51791237, gene SALL4 (spalt like transcription factor 4): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Duane-radial_ray_syndrome', 'SALL4-related_disorder']
|
ATTCTTTCTCTTCAAAGCAAAAGAGATCTTTAAAAATAACTGCCTGCTAGTTTGAGAGTCTGGAGCTGGCTTTGTAAGTAATTAACACCTTCCCCTTTGAATTGTTTATCTGCACAAAGAATAAAGCTTCAAATGCTTGGGAAAAGGTATCACTTTGGGTTTTTTTTTTTTAAAGGCATGGGCAACATATAAACACATATGTAATTTAAGTTCAAATTTCTGCATAAGAAACTACCTTTAAAGCATATGCCCAGACACCATCTTTCTTTGATTCTTTGATACAGCTTTTCCCTTATTTTACCATTAATGACATCAACAAACCTCTCAATAGATATGTGCATTTAAAATGGGTTCATCTTTCCCTGCTTCAAGAGTGGCTAATTTGTGAACATTACATCAGGCAGTGGGGCCTCAGAGTCAGGGAACCACGGCTTATTTCAGTGGTCAAAAAGCAGTGGCCACTTCCTCAAACATACTCTTAAGACACCCATATACAGAATCATAGTGTGGAGAAACAAAAAGAAAAAAACTATAACAAAATAGAACGACTACCCACCCCTATGTCCCAAGGGGCTCAAAGACAAAAATAAAAACCAACAAAAAAGGTATGCTGTCCATACCCATTTTGCATTAACCATCATAAATTAAAAGCATGTTCGTTACTAGGATAGAGGCAGTTACTATTGCCCTCTACCCAGAAGTAAAGAAAAGCTAATTGCCCTATAGAAGGGGCTGCTTCAAGTCATACTCTCCGTTTGTAAAGTTCAACCCAGGCTCCTTTTTGATGACCTTGAGCCCAAAATGGACATAAGTTAAATCCAAAGCTCTATCACCTTCCATCTCAGTGCGGCTGTTCTCGGAGCTCTCTGCTTTGCTCCCAGCATCGGGAGACTTTGACTTGATGCTTTCGGCTTGACTATTGGCCGGGGAGAGTGCCTGGAAGGATGTGGTTTCCAGGATATCTGGGCTTCGGCTCTGATACTCCTGGTCTCCCATCAGCGAGGATGAGTCGTTGGTCAAGCCATCGCTCTCCACGGAACCGTTTTCTCTGCTGCCCTGGCGCTGCAGGTTAAAAGGGGCAGGACCCACTTTCCCTGGGGCATCTAAGGAAGCCATCATGGCAAACCCTAGCGTGGGTGATGCCGAGTGGATGCTGGGAAGAGGCGTGGGGACCTTGGAGGAGCTGCTGGGAGCCTCCTGGGAGCTGACTTCCTCTACATCGATGCTTTCGATGACATCATCATGGCAGATAGCGCCGGTGCTGCCGTTCTCACCCACGGTCATTGGCTCAGAACCCGTAAAGTCACAGGGATTCTCTGGCAGGGGCGTGTTGGGAATCTGACCGCCCATGTGCATCCGAATATGTTGCTGCAGCATCACGGCATTAGTGAACTTCTTCTGGCAGATGGGGCACGAATGCTGCGTCTTAATGGATGTGTTGGTTCGGTGAACCCCAAGGTGTGTCTTCAGGTTACCTTTGGTAGAAAAGGCTCGGCCACAGATCTTACACTGGAACGGTCTCTCCCCGGTGTGGGTGCGATAATGCATCTTGAGGGAGCTCTGACAGCTTAAGACTCGGTGGCAAATGAGACATTCGTTGGGATCAGTGGTGGCCTTGTCAATGTTCTCCACCAACTGCTGCAATTTCAGGGTCTCTGACCCTGGCTCAGGGGTCCCACTCCCTTGGAAGCCACCAGCCCTTGGGGAATTATAGTTTGGTCCCACCCCAGGGAGTGTGGGTCCACCCTCACTTTCTGGAGAAGGCCCAGGCTGCAGGTCACCGGGCAAGGAGCCACCCGTGAGGTCCTTGGGATTAGTCCCCGAAGAAAGATTCTGAGGTAGCCCTACAGAGGTGGTTACAAGGACAGGTTTGCTGTCTAAAGAAAGACTCGGTTCATCTATGGGGTCAGGTACAGAGAGTGCATAGGGGATGCCATTGCCGGCCGCCACTTTGTCCTGGAACTCGGCAAACAGCTGGGGGTTTGCCTTCACCTGGGGATGTCGGTGAAAGTGCACCTTGAGGTTGCCCTTGGTGGTGAAGCGATGACCACAGACAGAGCACACGAAGGGTCTCTCTCCAGTGTGGGAGCGGAGGTGGATCTGCAAGGAGCTATCAGTCCCAAAAACCTTGCTACAGTACTTACACTTGTGCTTGTAGAGGGCCGCCTCGTCTTTGGGTTTGACATCCACCGCGGAGATGTTCGGTGGCTTCCCCTTCCCTTTCTTGGATGTGTCTAGCGCCACAGTGGAGAAAGGGCTCTGGAAGAGCACCGAGCCCGGGGCCTGAGGAAGCAAAGCGCTCGGGAGGCGGGACATGACGTTCGGGAGCACCCGGGTCCCATCCGGCTTCAGAGTGAAGGGTGCCAGCCCTGGGGACAGGGAGCTGGTGGCAGAAGGGATGTTGGCGTGAGGTAGCTTGGCTTGTTTCAAGGCATCCAGAGACAGACCTTGGCTTCCAGCTTTCTGGCTGAGCAAAGCCACAGCTGCAGAAACCTGCTGAGACATGTGGCTGCCCAAGGTCTTCAGAGTGTCGGCCCCTGCCCCGCTTGAGTGGAGGGCGTGGGAGGCCCACATGTTCACCTGGATGCGGATCTGCTCGGTGAGCTGGATCTGCTGTAGCTGCTGCTGCTGCAGACACAAGATCTGCTCGAGGACCCACGGGATGCTGTTGGCACCAGGCACGGGGGCAGGGAGTGCATCCGCGCTCCGCTGATTCACCGCCACCTTGGTGCCCCGTAGTGCCTGCAAGGTCACATTAGTGTTGGCCACTTTGCCTTTGGCTAAATAGCTTATGTCCTGGGGGGTGGGTGGCAGGGCTGTCTCTGTCTTTAGGTACACCACAGACTCCGCATCCGGCTTCTCCTTCATGTCCTCTGAGCTGCCGCCATTCTCCCTGTGACAGTCCTTACTGCCGGGACTGGTGGGCTGGTGGCTCAGTACAGCTCCGGAGAAGTCTTCTGAAGGCACAGGCCCCTCGCTGTCATTCATGATGAGGACAGGTGGATTTTTAGTGCAATTTTTCTTATGTTCCAGGAACTCAGAGATGCTGAAGAACTCCGCACAGCATTTCTCACAGACGTGCGTCTCCTCCCGACGAAGCCGCTTTACTGTGGCTTCATCCTCACTCGCCACCTCGTCATTCCCTGGGTGGTTCACTGGAGCACCTGTAACAAGACAGAAAAAGCTAAGGACTCTGCCCAAGTAAAAGATGTGGGGGGAGCCGGGCACCGTCGCTCACATCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTTGGGAATTCAAGACCAGTCTGGCCAACATGGTGAGACCCTGTCACTACTAAAAACACAAAAATTAGCTGGGCATGGTGGTGGGCTCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCTCAAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCCCGCCATTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGGCAAAAAGGCTGATCCCTGAATTTCTTTTGTAACTGGGGCTTACTTACTTTAGGGTTAGTGCCAGCCTACACATTGCAACTCCGAACTTGGGACTGTGTTTTAGCCAGATGCTGGGGTCCTTCACATGATGCCTGGAAGTCTCTCGAAGCTACTTCATTGTTCTCACCTCCCTGCTGTCCTCTCAGGTATACCCCATCATCAAGATATCAATGGAGCTTGGGGCCACAGGACAAAGACAGGCATATCTCAGACCCAGCAGCTAAGCCTATAAATCTAAACCACACAAGACATTCACACGAGCATACAATGATCTAGGTTTTCTTGTTTTTTCAGAAATGTTCACAGCAGCAAAGAAGTAAATTTTGGCCCACCCACCCATAGTGTGAGAAATATGCAGAATTTCTGTATGCCACAGAAATTAAGTGAAAGAAACGGGTTGCGCAACAATATGTACAACATGACCATTTTGCTTAAAACAAAACCTGTGTTTGAAATGTACAAATGTGGCTGGGTGCAGTGGCTCGCACCAGTCATCCCAGCACTTTGAGGCCACTTTTGAGAGGCCGGGAGTTT
|
ATTCTTTCTCTTCAAAGCAAAAGAGATCTTTAAAAATAACTGCCTGCTAGTTTGAGAGTCTGGAGCTGGCTTTGTAAGTAATTAACACCTTCCCCTTTGAATTGTTTATCTGCACAAAGAATAAAGCTTCAAATGCTTGGGAAAAGGTATCACTTTGGGTTTTTTTTTTTTAAAGGCATGGGCAACATATAAACACATATGTAATTTAAGTTCAAATTTCTGCATAAGAAACTACCTTTAAAGCATATGCCCAGACACCATCTTTCTTTGATTCTTTGATACAGCTTTTCCCTTATTTTACCATTAATGACATCAACAAACCTCTCAATAGATATGTGCATTTAAAATGGGTTCATCTTTCCCTGCTTCAAGAGTGGCTAATTTGTGAACATTACATCAGGCAGTGGGGCCTCAGAGTCAGGGAACCACGGCTTATTTCAGTGGTCAAAAAGCAGTGGCCACTTCCTCAAACATACTCTTAAGACACCCATATACAGAATCATAGTGTGGAGAAACAAAAAGAAAAAAACTATAACAAAATAGAACGACTACCCACCCCTATGTCCCAAGGGGCTCAAAGACAAAAATAAAAACCAACAAAAAAGGTATGCTGTCCATACCCATTTTGCATTAACCATCATAAATTAAAAGCATGTTCGTTACTAGGATAGAGGCAGTTACTATTGCCCTCTACCCAGAAGTAAAGAAAAGCTAATTGCCCTATAGAAGGGGCTGCTTCAAGTCATACTCTCCGTTTGTAAAGTTCAACCCAGGCTCCTTTTTGATGACCTTGAGCCCAAAATGGACATAAGTTAAATCCAAAGCTCTATCACCTTCCATCTCAGTGCGGCTGTTCTCGGAGCTCTCTGCTTTGCTCCCAGCATCGGGAGACTTTGACTTGATGCTTTCGGCTTGACTATTGGCCGGGGAGAGTGCCTGGAAGGATGTGGTTTCCAGGATATCTGGGCTTCGGCTCTGATACTCCTGGTCTCCCATCAGCGAGGATGAGTCGTTGGTCAAGCCATCGCTCTCCACGGAACCGTTTTCTCTGCTGCCCTGGCGCTGCAGGTTAAAAGGGGCAGGACCCACTTTCCCTGGGGCATCTAAGGAAGCCATCATGGCAAACCCTAGCGTGGGTGATGCCGAGTGGATGCTGGGAAGAGGCGTGGGGACCTTGGAGGAGCTGCTGGGAGCCTCCTGGGAGCTGACTTCCTCTACATCGATGCTTTCGATGACATCATCATGGCAGATAGCGCCGGTGCTGCCGTTCTCACCCACGGTCATTGGCTCAGAACCCGTAAAGTCACAGGGATTCTCTGGCAGGGGCGTGTTGGGAATCTGACCGCCCATGTGCATCCGAATATGTTGCTGCAGCATCACGGCATTAGTGAACTTCTTCTGGCAGATGGGGCACGAATGCTGCGTCTTAATGGATGTGTTGGTTCGGTGAACCCCAAGGTGTGTCTTCAGGTTACCTTTGGTAGAAAAGGCTCGGCCACAGATCTTACACTGGAACGGTCTCTCCCCGGTGTGGGTGCGATAATGCATCTTGAGGGAGCTCTGACAGCTTAAGACTCGGTGGCAAATGAGACATTCGTTGGGATCAGTGGTGGCCTTGTCAATGTTCTCCACCAACTGCTGCAATTTCAGGGTCTCTGACCCTGGCTCAGGGGTCCCACTCCCTTGGAAGCCACCAGCCCTTGGGGAATTATAGTTTGGTCCCACCCCAGGGAGTGTGGGTCCACCCTCACTTTCTGGAGAAGGCCCAGGCTGCAGGTCACCGGGCAAGGAGCCACCCGTGAGGTCCTTGGGATTAGTCCCCGAAGAAAGATTCTGAGGTAGCCCTACAGAGGTGGTTACAAGGACAGGTTTGCTGTCTAAAGAAAGACTCGGTTCATCTATGGGGTCAGGTACAGAGAGTGCATAGGGGATGCCATTGCCGGCCGCCACTTTGTCCTGGAACTCGGCAAACAGCTGGGGGTTTGCCTTCACCTGGGGATGTCGGTGAAAGTGCACCTTGAGGTTGCCCTTGGTGGTGAAGCGATGACCACAGAGCACACGAAGGGTCTCTCTCCAGTGTGGGAGCGGAGGTGGATCTGCAAGGAGCTATCAGTCCCAAAAACCTTGCTACAGTACTTACACTTGTGCTTGTAGAGGGCCGCCTCGTCTTTGGGTTTGACATCCACCGCGGAGATGTTCGGTGGCTTCCCCTTCCCTTTCTTGGATGTGTCTAGCGCCACAGTGGAGAAAGGGCTCTGGAAGAGCACCGAGCCCGGGGCCTGAGGAAGCAAAGCGCTCGGGAGGCGGGACATGACGTTCGGGAGCACCCGGGTCCCATCCGGCTTCAGAGTGAAGGGTGCCAGCCCTGGGGACAGGGAGCTGGTGGCAGAAGGGATGTTGGCGTGAGGTAGCTTGGCTTGTTTCAAGGCATCCAGAGACAGACCTTGGCTTCCAGCTTTCTGGCTGAGCAAAGCCACAGCTGCAGAAACCTGCTGAGACATGTGGCTGCCCAAGGTCTTCAGAGTGTCGGCCCCTGCCCCGCTTGAGTGGAGGGCGTGGGAGGCCCACATGTTCACCTGGATGCGGATCTGCTCGGTGAGCTGGATCTGCTGTAGCTGCTGCTGCTGCAGACACAAGATCTGCTCGAGGACCCACGGGATGCTGTTGGCACCAGGCACGGGGGCAGGGAGTGCATCCGCGCTCCGCTGATTCACCGCCACCTTGGTGCCCCGTAGTGCCTGCAAGGTCACATTAGTGTTGGCCACTTTGCCTTTGGCTAAATAGCTTATGTCCTGGGGGGTGGGTGGCAGGGCTGTCTCTGTCTTTAGGTACACCACAGACTCCGCATCCGGCTTCTCCTTCATGTCCTCTGAGCTGCCGCCATTCTCCCTGTGACAGTCCTTACTGCCGGGACTGGTGGGCTGGTGGCTCAGTACAGCTCCGGAGAAGTCTTCTGAAGGCACAGGCCCCTCGCTGTCATTCATGATGAGGACAGGTGGATTTTTAGTGCAATTTTTCTTATGTTCCAGGAACTCAGAGATGCTGAAGAACTCCGCACAGCATTTCTCACAGACGTGCGTCTCCTCCCGACGAAGCCGCTTTACTGTGGCTTCATCCTCACTCGCCACCTCGTCATTCCCTGGGTGGTTCACTGGAGCACCTGTAACAAGACAGAAAAAGCTAAGGACTCTGCCCAAGTAAAAGATGTGGGGGGAGCCGGGCACCGTCGCTCACATCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTTGGGAATTCAAGACCAGTCTGGCCAACATGGTGAGACCCTGTCACTACTAAAAACACAAAAATTAGCTGGGCATGGTGGTGGGCTCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCTCAAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCCCGCCATTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGGCAAAAAGGCTGATCCCTGAATTTCTTTTGTAACTGGGGCTTACTTACTTTAGGGTTAGTGCCAGCCTACACATTGCAACTCCGAACTTGGGACTGTGTTTTAGCCAGATGCTGGGGTCCTTCACATGATGCCTGGAAGTCTCTCGAAGCTACTTCATTGTTCTCACCTCCCTGCTGTCCTCTCAGGTATACCCCATCATCAAGATATCAATGGAGCTTGGGGCCACAGGACAAAGACAGGCATATCTCAGACCCAGCAGCTAAGCCTATAAATCTAAACCACACAAGACATTCACACGAGCATACAATGATCTAGGTTTTCTTGTTTTTTCAGAAATGTTCACAGCAGCAAAGAAGTAAATTTTGGCCCACCCACCCATAGTGTGAGAAATATGCAGAATTTCTGTATGCCACAGAAATTAAGTGAAAGAAACGGGTTGCGCAACAATATGTACAACATGACCATTTTGCTTAAAACAAAACCTGTGTTTGAAATGTACAAATGTGGCTGGGTGCAGTGGCTCGCACCAGTCATCCCAGCACTTTGAGGCCACTTTTGAGAGGCCGGGAGTTTNNNN
|
pathogenic
| 314,855 |
Determine whether the variant at chromosome 20, position 51791960, in gene SALL4 (spalt like transcription factor 4) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Duane-radial_ray_syndrome']
|
TAGAAGGGGCTGCTTCAAGTCATACTCTCCGTTTGTAAAGTTCAACCCAGGCTCCTTTTTGATGACCTTGAGCCCAAAATGGACATAAGTTAAATCCAAAGCTCTATCACCTTCCATCTCAGTGCGGCTGTTCTCGGAGCTCTCTGCTTTGCTCCCAGCATCGGGAGACTTTGACTTGATGCTTTCGGCTTGACTATTGGCCGGGGAGAGTGCCTGGAAGGATGTGGTTTCCAGGATATCTGGGCTTCGGCTCTGATACTCCTGGTCTCCCATCAGCGAGGATGAGTCGTTGGTCAAGCCATCGCTCTCCACGGAACCGTTTTCTCTGCTGCCCTGGCGCTGCAGGTTAAAAGGGGCAGGACCCACTTTCCCTGGGGCATCTAAGGAAGCCATCATGGCAAACCCTAGCGTGGGTGATGCCGAGTGGATGCTGGGAAGAGGCGTGGGGACCTTGGAGGAGCTGCTGGGAGCCTCCTGGGAGCTGACTTCCTCTACATCGATGCTTTCGATGACATCATCATGGCAGATAGCGCCGGTGCTGCCGTTCTCACCCACGGTCATTGGCTCAGAACCCGTAAAGTCACAGGGATTCTCTGGCAGGGGCGTGTTGGGAATCTGACCGCCCATGTGCATCCGAATATGTTGCTGCAGCATCACGGCATTAGTGAACTTCTTCTGGCAGATGGGGCACGAATGCTGCGTCTTAATGGATGTGTTGGTTCGGTGAACCCCAAGGTGTGTCTTCAGGTTACCTTTGGTAGAAAAGGCTCGGCCACAGATCTTACACTGGAACGGTCTCTCCCCGGTGTGGGTGCGATAATGCATCTTGAGGGAGCTCTGACAGCTTAAGACTCGGTGGCAAATGAGACATTCGTTGGGATCAGTGGTGGCCTTGTCAATGTTCTCCACCAACTGCTGCAATTTCAGGGTCTCTGACCCTGGCTCAGGGGTCCCACTCCCTTGGAAGCCACCAGCCCTTGGGGAATTATAGTTTGGTCCCACCCCAGGGAGTGTGGGTCCACCCTCACTTTCTGGAGAAGGCCCAGGCTGCAGGTCACCGGGCAAGGAGCCACCCGTGAGGTCCTTGGGATTAGTCCCCGAAGAAAGATTCTGAGGTAGCCCTACAGAGGTGGTTACAAGGACAGGTTTGCTGTCTAAAGAAAGACTCGGTTCATCTATGGGGTCAGGTACAGAGAGTGCATAGGGGATGCCATTGCCGGCCGCCACTTTGTCCTGGAACTCGGCAAACAGCTGGGGGTTTGCCTTCACCTGGGGATGTCGGTGAAAGTGCACCTTGAGGTTGCCCTTGGTGGTGAAGCGATGACCACAGACAGAGCACACGAAGGGTCTCTCTCCAGTGTGGGAGCGGAGGTGGATCTGCAAGGAGCTATCAGTCCCAAAAACCTTGCTACAGTACTTACACTTGTGCTTGTAGAGGGCCGCCTCGTCTTTGGGTTTGACATCCACCGCGGAGATGTTCGGTGGCTTCCCCTTCCCTTTCTTGGATGTGTCTAGCGCCACAGTGGAGAAAGGGCTCTGGAAGAGCACCGAGCCCGGGGCCTGAGGAAGCAAAGCGCTCGGGAGGCGGGACATGACGTTCGGGAGCACCCGGGTCCCATCCGGCTTCAGAGTGAAGGGTGCCAGCCCTGGGGACAGGGAGCTGGTGGCAGAAGGGATGTTGGCGTGAGGTAGCTTGGCTTGTTTCAAGGCATCCAGAGACAGACCTTGGCTTCCAGCTTTCTGGCTGAGCAAAGCCACAGCTGCAGAAACCTGCTGAGACATGTGGCTGCCCAAGGTCTTCAGAGTGTCGGCCCCTGCCCCGCTTGAGTGGAGGGCGTGGGAGGCCCACATGTTCACCTGGATGCGGATCTGCTCGGTGAGCTGGATCTGCTGTAGCTGCTGCTGCTGCAGACACAAGATCTGCTCGAGGACCCACGGGATGCTGTTGGCACCAGGCACGGGGGCAGGGAGTGCATCCGCGCTCCGCTGATTCACCGCCACCTTGGTGCCCCGTAGTGCCTGCAAGGTCACATTAGTGTTGGCCACTTTGCCTTTGGCTAAATAGCTTATGTCCTGGGGGGTGGGTGGCAGGGCTGTCTCTGTCTTTAGGTACACCACAGACTCCGCATCCGGCTTCTCCTTCATGTCCTCTGAGCTGCCGCCATTCTCCCTGTGACAGTCCTTACTGCCGGGACTGGTGGGCTGGTGGCTCAGTACAGCTCCGGAGAAGTCTTCTGAAGGCACAGGCCCCTCGCTGTCATTCATGATGAGGACAGGTGGATTTTTAGTGCAATTTTTCTTATGTTCCAGGAACTCAGAGATGCTGAAGAACTCCGCACAGCATTTCTCACAGACGTGCGTCTCCTCCCGACGAAGCCGCTTTACTGTGGCTTCATCCTCACTCGCCACCTCGTCATTCCCTGGGTGGTTCACTGGAGCACCTGTAACAAGACAGAAAAAGCTAAGGACTCTGCCCAAGTAAAAGATGTGGGGGGAGCCGGGCACCGTCGCTCACATCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTTGGGAATTCAAGACCAGTCTGGCCAACATGGTGAGACCCTGTCACTACTAAAAACACAAAAATTAGCTGGGCATGGTGGTGGGCTCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCTCAAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCCCGCCATTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGGCAAAAAGGCTGATCCCTGAATTTCTTTTGTAACTGGGGCTTACTTACTTTAGGGTTAGTGCCAGCCTACACATTGCAACTCCGAACTTGGGACTGTGTTTTAGCCAGATGCTGGGGTCCTTCACATGATGCCTGGAAGTCTCTCGAAGCTACTTCATTGTTCTCACCTCCCTGCTGTCCTCTCAGGTATACCCCATCATCAAGATATCAATGGAGCTTGGGGCCACAGGACAAAGACAGGCATATCTCAGACCCAGCAGCTAAGCCTATAAATCTAAACCACACAAGACATTCACACGAGCATACAATGATCTAGGTTTTCTTGTTTTTTCAGAAATGTTCACAGCAGCAAAGAAGTAAATTTTGGCCCACCCACCCATAGTGTGAGAAATATGCAGAATTTCTGTATGCCACAGAAATTAAGTGAAAGAAACGGGTTGCGCAACAATATGTACAACATGACCATTTTGCTTAAAACAAAACCTGTGTTTGAAATGTACAAATGTGGCTGGGTGCAGTGGCTCGCACCAGTCATCCCAGCACTTTGAGGCCACTTTTGAGAGGCCGGGAGTTTGAAACCAGCAACACAGTGACACCCCGTCTCTATAAAAAAAATAAGAAGATAAAAATAGCTGAGCATGGCAGCGTCCATGTATAGTTCAAGCAACTCCAGAGGCTGAGGCAGGAGAACCGCTTGAGCCTGGGAAGTCAAGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTGGAAAAAAAAAGTACAAATGCACAAGGAAAAGGCCAGGAAGGGCTGGAGTGCAGTGGCCCAATCTTGGCTCACTGTAACCTCCGCCTCCTGGATTCAAGCTATTCTCATGCCTCAGTCTCCCGAGTAGCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGGTGCAAGTGATCCGTCTGCCTCAGCCTCCCAAAGTGCTCGGATTACAGGCATGAGCCACCGTGCCCAGCCAAAGCCACGGACTTTTGACAGCACAGTCCACCCACGGGTTTCCAGGAGGGGCTGATCTTGAAGCATGGCCTTAACAAACTGATTTAATCTTTACTTATTTCAGACTGGGTCACAATATGAAGTCTTGCAAGGTATGTGTAGGCTGGGGGTGGGTCAGGGGAAGAGACAACAGCCATGGGCAGGTCTGGCCTGCCAGAGTTAAGAAAGCTAGGCAGGGCCAACCTAGCCTTGCCTATCAATAACAGGTAGTTATTGATAGGCAAGTCGGCACACCCCTAA
|
TAGAAGGGGCTGCTTCAAGTCATACTCTCCGTTTGTAAAGTTCAACCCAGGCTCCTTTTTGATGACCTTGAGCCCAAAATGGACATAAGTTAAATCCAAAGCTCTATCACCTTCCATCTCAGTGCGGCTGTTCTCGGAGCTCTCTGCTTTGCTCCCAGCATCGGGAGACTTTGACTTGATGCTTTCGGCTTGACTATTGGCCGGGGAGAGTGCCTGGAAGGATGTGGTTTCCAGGATATCTGGGCTTCGGCTCTGATACTCCTGGTCTCCCATCAGCGAGGATGAGTCGTTGGTCAAGCCATCGCTCTCCACGGAACCGTTTTCTCTGCTGCCCTGGCGCTGCAGGTTAAAAGGGGCAGGACCCACTTTCCCTGGGGCATCTAAGGAAGCCATCATGGCAAACCCTAGCGTGGGTGATGCCGAGTGGATGCTGGGAAGAGGCGTGGGGACCTTGGAGGAGCTGCTGGGAGCCTCCTGGGAGCTGACTTCCTCTACATCGATGCTTTCGATGACATCATCATGGCAGATAGCGCCGGTGCTGCCGTTCTCACCCACGGTCATTGGCTCAGAACCCGTAAAGTCACAGGGATTCTCTGGCAGGGGCGTGTTGGGAATCTGACCGCCCATGTGCATCCGAATATGTTGCTGCAGCATCACGGCATTAGTGAACTTCTTCTGGCAGATGGGGCACGAATGCTGCGTCTTAATGGATGTGTTGGTTCGGTGAACCCCAAGGTGTGTCTTCAGGTTACCTTTGGTAGAAAAGGCTCGGCCACAGATCTTACACTGGAACGGTCTCTCCCCGGTGTGGGTGCGATAATGCATCTTGAGGGAGCTCTGACAGCTTAAGACTCGGTGGCAAATGAGACATTCGTTGGGATCAGTGGTGGCCTTGTCAATGTTCTCCACCAACTGCTGCAATTTCAGGGTCTCTGACCCTGGCTCAGGGGTCCCACTCCCTTGGAAGCCACCAGCCCTTGGGGAATTATAGTTTGGTCCCACCCCAGGGAGTGTGGGTCCACCCTCACTTTCTGGAGAAGGCCCAGGCTGCAGGTCACCGGGCAAGGAGCCACCCGTGAGGTCCTTGGGATTAGTCCCCGAAGAAAGATTCTGAGGTAGCCCTACAGAGGTGGTTACAAGGACAGGTTTGCTGTCTAAAGAAAGACTCGGTTCATCTATGGGGTCAGGTACAGAGAGTGCATAGGGGATGCCATTGCCGGCCGCCACTTTGTCCTGGAACTCGGCAAACAGCTGGGGGTTTGCCTTCACCTGGGGATGTCGGTGAAAGTGCACCTTGAGGTTGCCCTTGGTGGTGAAGCGATGACCACAGACAGAGCACACGAAGGGTCTCTCTCCAGTGTGGGAGCGGAGGTGGATCTGCAAGGAGCTATCAGTCCCAAAAACCTTGCTACAGTACTTACACTTGTGCTTGTAGAGGGCCGCCTCGTCTTTGGGTTTGACATCCACCGCGGAGATGTTCGGTGGCTTCCCCTTCCCTTTCTTGGATGTGTCTAGCGCCACAGTGGAGAAAGGGCTCTGGAAGAGCACCGAGCCCGGGGCCTGAGGAAGCAAAGCGCTCGGGAGGCGGGACATGACGTTCGGGAGCACCCGGGTCCCATCCGGCTTCAGAGTGAAGGGTGCCAGCCCTGGGGACAGGGAGCTGGTGGCAGAAGGGATGTTGGCGTGAGGTAGCTTGGCTTGTTTCAAGGCATCCAGAGACAGACCTTGGCTTCCAGCTTTCTGGCTGAGCAAAGCCACAGCTGCAGAAACCTGCTGAGACATGTGGCTGCCCAAGGTCTTCAGAGTGTCGGCCCCTGCCCCGCTTGAGTGGAGGGCGTGGGAGGCCCACATGTTCACCTGGATGCGGATCTGCTCGGTGAGCTGGATCTGCTGTAGCTGCTGCTGCTGCAGACACAAGATCTGCTCGAGGACCCACGGGATGCTGTTGGCACCAGGCACGGGGGCAGGGAGTGCATCCGCGCTCCGCTGATTCACCGCCACCTTGGTGCCCCGTAGTGCCTGCAAGGTCACATTAGTGTTGGCCACTTTGCTAAATAGCTTATGTCCTGGGGGGTGGGTGGCAGGGCTGTCTCTGTCTTTAGGTACACCACAGACTCCGCATCCGGCTTCTCCTTCATGTCCTCTGAGCTGCCGCCATTCTCCCTGTGACAGTCCTTACTGCCGGGACTGGTGGGCTGGTGGCTCAGTACAGCTCCGGAGAAGTCTTCTGAAGGCACAGGCCCCTCGCTGTCATTCATGATGAGGACAGGTGGATTTTTAGTGCAATTTTTCTTATGTTCCAGGAACTCAGAGATGCTGAAGAACTCCGCACAGCATTTCTCACAGACGTGCGTCTCCTCCCGACGAAGCCGCTTTACTGTGGCTTCATCCTCACTCGCCACCTCGTCATTCCCTGGGTGGTTCACTGGAGCACCTGTAACAAGACAGAAAAAGCTAAGGACTCTGCCCAAGTAAAAGATGTGGGGGGAGCCGGGCACCGTCGCTCACATCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTTGGGAATTCAAGACCAGTCTGGCCAACATGGTGAGACCCTGTCACTACTAAAAACACAAAAATTAGCTGGGCATGGTGGTGGGCTCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCTCAAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCCCGCCATTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGGCAAAAAGGCTGATCCCTGAATTTCTTTTGTAACTGGGGCTTACTTACTTTAGGGTTAGTGCCAGCCTACACATTGCAACTCCGAACTTGGGACTGTGTTTTAGCCAGATGCTGGGGTCCTTCACATGATGCCTGGAAGTCTCTCGAAGCTACTTCATTGTTCTCACCTCCCTGCTGTCCTCTCAGGTATACCCCATCATCAAGATATCAATGGAGCTTGGGGCCACAGGACAAAGACAGGCATATCTCAGACCCAGCAGCTAAGCCTATAAATCTAAACCACACAAGACATTCACACGAGCATACAATGATCTAGGTTTTCTTGTTTTTTCAGAAATGTTCACAGCAGCAAAGAAGTAAATTTTGGCCCACCCACCCATAGTGTGAGAAATATGCAGAATTTCTGTATGCCACAGAAATTAAGTGAAAGAAACGGGTTGCGCAACAATATGTACAACATGACCATTTTGCTTAAAACAAAACCTGTGTTTGAAATGTACAAATGTGGCTGGGTGCAGTGGCTCGCACCAGTCATCCCAGCACTTTGAGGCCACTTTTGAGAGGCCGGGAGTTTGAAACCAGCAACACAGTGACACCCCGTCTCTATAAAAAAAATAAGAAGATAAAAATAGCTGAGCATGGCAGCGTCCATGTATAGTTCAAGCAACTCCAGAGGCTGAGGCAGGAGAACCGCTTGAGCCTGGGAAGTCAAGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTGGAAAAAAAAAGTACAAATGCACAAGGAAAAGGCCAGGAAGGGCTGGAGTGCAGTGGCCCAATCTTGGCTCACTGTAACCTCCGCCTCCTGGATTCAAGCTATTCTCATGCCTCAGTCTCCCGAGTAGCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGGTGCAAGTGATCCGTCTGCCTCAGCCTCCCAAAGTGCTCGGATTACAGGCATGAGCCACCGTGCCCAGCCAAAGCCACGGACTTTTGACAGCACAGTCCACCCACGGGTTTCCAGGAGGGGCTGATCTTGAAGCATGGCCTTAACAAACTGATTTAATCTTTACTTATTTCAGACTGGGTCACAATATGAAGTCTTGCAAGGTATGTGTAGGCTGGGGGTGGGTCAGGGGAAGAGACAACAGCCATGGGCAGGTCTGGCCTGCCAGAGTTAAGAAAGCTAGGCAGGGCCAACCTAGCCTTGCCTATCAATAACAGGTAGTTATTGATAGGCAAGTCGGCACACCCCTAANNNNNNN
|
pathogenic
| 314,863 |
Is chromosome 20, position 51792353, gene SALL4 (spalt like transcription factor 4) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Duane-radial_ray_syndrome', 'Oculootoradial_syndrome']
|
CATGGCAAACCCTAGCGTGGGTGATGCCGAGTGGATGCTGGGAAGAGGCGTGGGGACCTTGGAGGAGCTGCTGGGAGCCTCCTGGGAGCTGACTTCCTCTACATCGATGCTTTCGATGACATCATCATGGCAGATAGCGCCGGTGCTGCCGTTCTCACCCACGGTCATTGGCTCAGAACCCGTAAAGTCACAGGGATTCTCTGGCAGGGGCGTGTTGGGAATCTGACCGCCCATGTGCATCCGAATATGTTGCTGCAGCATCACGGCATTAGTGAACTTCTTCTGGCAGATGGGGCACGAATGCTGCGTCTTAATGGATGTGTTGGTTCGGTGAACCCCAAGGTGTGTCTTCAGGTTACCTTTGGTAGAAAAGGCTCGGCCACAGATCTTACACTGGAACGGTCTCTCCCCGGTGTGGGTGCGATAATGCATCTTGAGGGAGCTCTGACAGCTTAAGACTCGGTGGCAAATGAGACATTCGTTGGGATCAGTGGTGGCCTTGTCAATGTTCTCCACCAACTGCTGCAATTTCAGGGTCTCTGACCCTGGCTCAGGGGTCCCACTCCCTTGGAAGCCACCAGCCCTTGGGGAATTATAGTTTGGTCCCACCCCAGGGAGTGTGGGTCCACCCTCACTTTCTGGAGAAGGCCCAGGCTGCAGGTCACCGGGCAAGGAGCCACCCGTGAGGTCCTTGGGATTAGTCCCCGAAGAAAGATTCTGAGGTAGCCCTACAGAGGTGGTTACAAGGACAGGTTTGCTGTCTAAAGAAAGACTCGGTTCATCTATGGGGTCAGGTACAGAGAGTGCATAGGGGATGCCATTGCCGGCCGCCACTTTGTCCTGGAACTCGGCAAACAGCTGGGGGTTTGCCTTCACCTGGGGATGTCGGTGAAAGTGCACCTTGAGGTTGCCCTTGGTGGTGAAGCGATGACCACAGACAGAGCACACGAAGGGTCTCTCTCCAGTGTGGGAGCGGAGGTGGATCTGCAAGGAGCTATCAGTCCCAAAAACCTTGCTACAGTACTTACACTTGTGCTTGTAGAGGGCCGCCTCGTCTTTGGGTTTGACATCCACCGCGGAGATGTTCGGTGGCTTCCCCTTCCCTTTCTTGGATGTGTCTAGCGCCACAGTGGAGAAAGGGCTCTGGAAGAGCACCGAGCCCGGGGCCTGAGGAAGCAAAGCGCTCGGGAGGCGGGACATGACGTTCGGGAGCACCCGGGTCCCATCCGGCTTCAGAGTGAAGGGTGCCAGCCCTGGGGACAGGGAGCTGGTGGCAGAAGGGATGTTGGCGTGAGGTAGCTTGGCTTGTTTCAAGGCATCCAGAGACAGACCTTGGCTTCCAGCTTTCTGGCTGAGCAAAGCCACAGCTGCAGAAACCTGCTGAGACATGTGGCTGCCCAAGGTCTTCAGAGTGTCGGCCCCTGCCCCGCTTGAGTGGAGGGCGTGGGAGGCCCACATGTTCACCTGGATGCGGATCTGCTCGGTGAGCTGGATCTGCTGTAGCTGCTGCTGCTGCAGACACAAGATCTGCTCGAGGACCCACGGGATGCTGTTGGCACCAGGCACGGGGGCAGGGAGTGCATCCGCGCTCCGCTGATTCACCGCCACCTTGGTGCCCCGTAGTGCCTGCAAGGTCACATTAGTGTTGGCCACTTTGCCTTTGGCTAAATAGCTTATGTCCTGGGGGGTGGGTGGCAGGGCTGTCTCTGTCTTTAGGTACACCACAGACTCCGCATCCGGCTTCTCCTTCATGTCCTCTGAGCTGCCGCCATTCTCCCTGTGACAGTCCTTACTGCCGGGACTGGTGGGCTGGTGGCTCAGTACAGCTCCGGAGAAGTCTTCTGAAGGCACAGGCCCCTCGCTGTCATTCATGATGAGGACAGGTGGATTTTTAGTGCAATTTTTCTTATGTTCCAGGAACTCAGAGATGCTGAAGAACTCCGCACAGCATTTCTCACAGACGTGCGTCTCCTCCCGACGAAGCCGCTTTACTGTGGCTTCATCCTCACTCGCCACCTCGTCATTCCCTGGGTGGTTCACTGGAGCACCTGTAACAAGACAGAAAAAGCTAAGGACTCTGCCCAAGTAAAAGATGTGGGGGGAGCCGGGCACCGTCGCTCACATCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTTGGGAATTCAAGACCAGTCTGGCCAACATGGTGAGACCCTGTCACTACTAAAAACACAAAAATTAGCTGGGCATGGTGGTGGGCTCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCTCAAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCCCGCCATTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGGCAAAAAGGCTGATCCCTGAATTTCTTTTGTAACTGGGGCTTACTTACTTTAGGGTTAGTGCCAGCCTACACATTGCAACTCCGAACTTGGGACTGTGTTTTAGCCAGATGCTGGGGTCCTTCACATGATGCCTGGAAGTCTCTCGAAGCTACTTCATTGTTCTCACCTCCCTGCTGTCCTCTCAGGTATACCCCATCATCAAGATATCAATGGAGCTTGGGGCCACAGGACAAAGACAGGCATATCTCAGACCCAGCAGCTAAGCCTATAAATCTAAACCACACAAGACATTCACACGAGCATACAATGATCTAGGTTTTCTTGTTTTTTCAGAAATGTTCACAGCAGCAAAGAAGTAAATTTTGGCCCACCCACCCATAGTGTGAGAAATATGCAGAATTTCTGTATGCCACAGAAATTAAGTGAAAGAAACGGGTTGCGCAACAATATGTACAACATGACCATTTTGCTTAAAACAAAACCTGTGTTTGAAATGTACAAATGTGGCTGGGTGCAGTGGCTCGCACCAGTCATCCCAGCACTTTGAGGCCACTTTTGAGAGGCCGGGAGTTTGAAACCAGCAACACAGTGACACCCCGTCTCTATAAAAAAAATAAGAAGATAAAAATAGCTGAGCATGGCAGCGTCCATGTATAGTTCAAGCAACTCCAGAGGCTGAGGCAGGAGAACCGCTTGAGCCTGGGAAGTCAAGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTGGAAAAAAAAAGTACAAATGCACAAGGAAAAGGCCAGGAAGGGCTGGAGTGCAGTGGCCCAATCTTGGCTCACTGTAACCTCCGCCTCCTGGATTCAAGCTATTCTCATGCCTCAGTCTCCCGAGTAGCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGGTGCAAGTGATCCGTCTGCCTCAGCCTCCCAAAGTGCTCGGATTACAGGCATGAGCCACCGTGCCCAGCCAAAGCCACGGACTTTTGACAGCACAGTCCACCCACGGGTTTCCAGGAGGGGCTGATCTTGAAGCATGGCCTTAACAAACTGATTTAATCTTTACTTATTTCAGACTGGGTCACAATATGAAGTCTTGCAAGGTATGTGTAGGCTGGGGGTGGGTCAGGGGAAGAGACAACAGCCATGGGCAGGTCTGGCCTGCCAGAGTTAAGAAAGCTAGGCAGGGCCAACCTAGCCTTGCCTATCAATAACAGGTAGTTATTGATAGGCAAGTCGGCACACCCCTAAGAAAGCCTACTGGGCACGCGTAATCGCGAGATGACAACCTCGTGATTAGATGATTAGGTAGATGCCTGGATTTACTGATTCAACCAGGACTGCTGAGAACAATGCCTTACAATAAAACAATGTAATGCCTCTCGTTCCACAATACTAACCTCCTACTGCGTGCAAAGCAGGGGTTGGGGACCCAATGGTGAAAAGATGAGCCCCATTATCTTCCTATAATTCAGATTTTGTACCAGCAGATGCCCATACTGTAATCATTCAATCCTATTAAATATCAGCTCCATTAAAGGCTGGGCGTGATGGCTCACACCTGTGATCCCAGCACTTTGGGAGGCTGAGAGTTCGAAACCAGCCTGACCAATATGGTGAAACTCCATCTCTACTAAAACTATA
|
CATGGCAAACCCTAGCGTGGGTGATGCCGAGTGGATGCTGGGAAGAGGCGTGGGGACCTTGGAGGAGCTGCTGGGAGCCTCCTGGGAGCTGACTTCCTCTACATCGATGCTTTCGATGACATCATCATGGCAGATAGCGCCGGTGCTGCCGTTCTCACCCACGGTCATTGGCTCAGAACCCGTAAAGTCACAGGGATTCTCTGGCAGGGGCGTGTTGGGAATCTGACCGCCCATGTGCATCCGAATATGTTGCTGCAGCATCACGGCATTAGTGAACTTCTTCTGGCAGATGGGGCACGAATGCTGCGTCTTAATGGATGTGTTGGTTCGGTGAACCCCAAGGTGTGTCTTCAGGTTACCTTTGGTAGAAAAGGCTCGGCCACAGATCTTACACTGGAACGGTCTCTCCCCGGTGTGGGTGCGATAATGCATCTTGAGGGAGCTCTGACAGCTTAAGACTCGGTGGCAAATGAGACATTCGTTGGGATCAGTGGTGGCCTTGTCAATGTTCTCCACCAACTGCTGCAATTTCAGGGTCTCTGACCCTGGCTCAGGGGTCCCACTCCCTTGGAAGCCACCAGCCCTTGGGGAATTATAGTTTGGTCCCACCCCAGGGAGTGTGGGTCCACCCTCACTTTCTGGAGAAGGCCCAGGCTGCAGGTCACCGGGCAAGGAGCCACCCGTGAGGTCCTTGGGATTAGTCCCCGAAGAAAGATTCTGAGGTAGCCCTACAGAGGTGGTTACAAGGACAGGTTTGCTGTCTAAAGAAAGACTCGGTTCATCTATGGGGTCAGGTACAGAGAGTGCATAGGGGATGCCATTGCCGGCCGCCACTTTGTCCTGGAACTCGGCAAACAGCTGGGGGTTTGCCTTCACCTGGGGATGTCGGTGAAAGTGCACCTTGAGGTTGCCCTTGGTGGTGAAGCGATGACCACAGACAGAGCACACGAAGGGTCTCTCTCCAGTGTGGGAGCGGAGGTGGATCTGCAAGGAGCTATCAGTCCCAAAAACCTTGCTACAGTACTTACACTTGTGCTTGTAGAGGGCCGCCTCGTCTTTGGGTTTGACATCCACCGCGGAGATGTTCGGTGGCTTCCCCTTCCCTTTCTTGGATGTGTCTAGCGCCACAGTGGAGAAAGGGCTCTGGAAGAGCACCGAGCCCGGGGCCTGAGGAAGCAAAGCGCTCGGGAGGCGGGACATGACGTTCGGGAGCACCCGGGTCCCATCCGGCTTCAGAGTGAAGGGTGCCAGCCCTGGGGACAGGGAGCTGGTGGCAGAAGGGATGTTGGCGTGAGGTAGCTTGGCTTGTTTCAAGGCATCCAGAGACAGACCTTGGCTTCCAGCTTTCTGGCTGAGCAAAGCCACAGCTGCAGAAACCTGCTGAGACATGTGGCTGCCCAAGGTCTTCAGAGTGTCGGCCCCTGCCCCGCTTGAGTGGAGGGCGTGGGAGGCCCACATGTTCACCTGGATGCGGATCTGCTCGGTGAGCTGGATCTGCTGTAGCTGCTGCTGCTGCAGACACAAGATCTGCTCGAGGACCCACGGGATGCTGTTGGCACCAGGCACGGGGGCAGGGAGTGCATCCGCGCTCCGCTGATTCACCGCCACCTTGGTGCCCCGTAGTGCCTGCAAGGTCACATTAGTGTTGGCCACTTTGCCTTTGGCTAAATAGCTTATGTCCTGGGGGGTGGGTGGCAGGGCTGTCTCTGTCTTTAGGTACACCACAGACTCCGCATCCGGCTTCTCCTTCATGTCCTCTGAGCTGCCGCCATTCTCCCTGTGACAGTCCTTACTGCCGGGACTGGTGGGCTGGTGGCTCAGTACAGCTCCGGAGAAGTCTTCTGAAGGCACAGGCCCCTCGCTGTCATTCATGATGAGGACAGGTGGATTTTTAGTGCAATTTTTCTTATGTTCCAGGAACTCAGAGATGCTGAAGAACTCCGCACAGCATTTCTCACAGACGTGCGTCTCCTCCCGACGAAGCCGCTTTACTGTGGCTTCATCCTCACTCGCCACCTCGTCATTCCCTGGGTGGTTCACTGGAGCACCGTAACAAGACAGAAAAAGCTAAGGACTCTGCCCAAGTAAAAGATGTGGGGGGAGCCGGGCACCGTCGCTCACATCTATAATCCTAGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTTGGGAATTCAAGACCAGTCTGGCCAACATGGTGAGACCCTGTCACTACTAAAAACACAAAAATTAGCTGGGCATGGTGGTGGGCTCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCTCAAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCCCGCCATTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGGCAAAAAGGCTGATCCCTGAATTTCTTTTGTAACTGGGGCTTACTTACTTTAGGGTTAGTGCCAGCCTACACATTGCAACTCCGAACTTGGGACTGTGTTTTAGCCAGATGCTGGGGTCCTTCACATGATGCCTGGAAGTCTCTCGAAGCTACTTCATTGTTCTCACCTCCCTGCTGTCCTCTCAGGTATACCCCATCATCAAGATATCAATGGAGCTTGGGGCCACAGGACAAAGACAGGCATATCTCAGACCCAGCAGCTAAGCCTATAAATCTAAACCACACAAGACATTCACACGAGCATACAATGATCTAGGTTTTCTTGTTTTTTCAGAAATGTTCACAGCAGCAAAGAAGTAAATTTTGGCCCACCCACCCATAGTGTGAGAAATATGCAGAATTTCTGTATGCCACAGAAATTAAGTGAAAGAAACGGGTTGCGCAACAATATGTACAACATGACCATTTTGCTTAAAACAAAACCTGTGTTTGAAATGTACAAATGTGGCTGGGTGCAGTGGCTCGCACCAGTCATCCCAGCACTTTGAGGCCACTTTTGAGAGGCCGGGAGTTTGAAACCAGCAACACAGTGACACCCCGTCTCTATAAAAAAAATAAGAAGATAAAAATAGCTGAGCATGGCAGCGTCCATGTATAGTTCAAGCAACTCCAGAGGCTGAGGCAGGAGAACCGCTTGAGCCTGGGAAGTCAAGCCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTGGAAAAAAAAAGTACAAATGCACAAGGAAAAGGCCAGGAAGGGCTGGAGTGCAGTGGCCCAATCTTGGCTCACTGTAACCTCCGCCTCCTGGATTCAAGCTATTCTCATGCCTCAGTCTCCCGAGTAGCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGGTGCAAGTGATCCGTCTGCCTCAGCCTCCCAAAGTGCTCGGATTACAGGCATGAGCCACCGTGCCCAGCCAAAGCCACGGACTTTTGACAGCACAGTCCACCCACGGGTTTCCAGGAGGGGCTGATCTTGAAGCATGGCCTTAACAAACTGATTTAATCTTTACTTATTTCAGACTGGGTCACAATATGAAGTCTTGCAAGGTATGTGTAGGCTGGGGGTGGGTCAGGGGAAGAGACAACAGCCATGGGCAGGTCTGGCCTGCCAGAGTTAAGAAAGCTAGGCAGGGCCAACCTAGCCTTGCCTATCAATAACAGGTAGTTATTGATAGGCAAGTCGGCACACCCCTAAGAAAGCCTACTGGGCACGCGTAATCGCGAGATGACAACCTCGTGATTAGATGATTAGGTAGATGCCTGGATTTACTGATTCAACCAGGACTGCTGAGAACAATGCCTTACAATAAAACAATGTAATGCCTCTCGTTCCACAATACTAACCTCCTACTGCGTGCAAAGCAGGGGTTGGGGACCCAATGGTGAAAAGATGAGCCCCATTATCTTCCTATAATTCAGATTTTGTACCAGCAGATGCCCATACTGTAATCATTCAATCCTATTAAATATCAGCTCCATTAAAGGCTGGGCGTGATGGCTCACACCTGTGATCCCAGCACTTTGGGAGGCTGAGAGTTCGAAACCAGCCTGACCAATATGGTGAAACTCCATCTCTACTAAAACTATAN
|
pathogenic
| 314,868 |
A genetic variant on chromosome 20, position 54157436, affects the gene CYP24A1 (cytochrome P450 family 24 subfamily A member 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Hypercalcemia,_infantile,_1']
|
ATCCGGGTTTAAACACCGACATGTCAGCCTATAAAGCCATATGTTACAAATGTCTTATTTCCACCACCAGGGGTGGTGGCTCACACTTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATAATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTGTGCACCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCATGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCATTGCACTCCAGCCCAGGTGACAGTGTGAGACACTGTCTCAAAAAAAAAAAAAAAAAAAAAAATTAGGGCCTTCTTAGGCTAACTTTTGATCACTTCAATAGTTTTGAATTCATTGTAATGTCTATTAGGAGAACATAACTAGACTTACTAACTCTTAATTTCATTAAGGAAATTATTACTCAGGACGAGGCCAACATATGCTATTTGGCTTATGTTATTTAAAGGAAATAACTCAGTAGTATTGAAATAAATAGCACCTGGTTGGTATATGGACATGGCAAAAGTTGTGGAGGGAACATGAGAACTCCTCTATTGTCAGAAAAAGTATTGAATGGCATACTGCAGAAAAAATATTCTATTGTGTTCAATACAGGCTGATAAATATATACATTTATATTACATGTGGTTGCATAACACAAACCTAGACCCTAGGGCTAAATACAGTCCACCGCTTGTTTTTTATAAAATTTATCAGAACACAGCCTTTGTAGGCAGAATAACAGATCTCCTAAAATGTGAATGCCCTAATCCCTGGAACACGTGAATATACTACCTTATATGAAAAAAAGGGCTTTCCAGATGAAATTAAATTTATGAACTTGGAGATGGGAGACATGATCCTGGATAATATCTTGTCAGACAGAAGCAATGTAAGAAGAAAGAGAGATTCAAAGTGTGAGAGGGACTCAACCAACCATTGTTACTGGCTTTCAGTTGGGGAAGGTTTCATGAGCCAAGGAATATGGGAAATCTCTCAAAGTTGAGGATCGCCTTCAGCTGACAGCAGCAAAAAAATAAAGACTTCAGTCCTGTAACCATGAAGAACTAAATTCTGCCAACAACCAAACTAGCAAGAGAATAGATCCTCCTCTAGAACCTCCAGAAAGAGCCCCGACAACACGATAATTTTAGCCTGGAAGAGCCTCATCAGACTTCTGACCTATAGAACTGTAAGATAATAGATGTGTGTCGTGTAACTCACTAAGTTTTAGTAATTTGCGGTGGCAGCAATAGAAAGCTAGGACATCAGCTCACTCATTAGTTTACAAATTGCCTGTGGCTGCTTTCATGTTCCAAGGTAGTATTAAGAGGATGTGACAAAGACTGTATGGTCCATAAAACCTAAAATATTTGCCAACTGGCCCTTTACGGAAAAAGTTTGCCAACCCTTACTATTCACATGCAAAAACCATGAACAGCTGCTAGCATTTACTGAACACTTAATTGATGCCAGGCTCAGGAATAACTACTTGGTATTCATATTAAATTTTTGTGATACACTCTCTTTGGGTCATCATTTTACAAATGAAAAAAAAAAAGGAAGTAGAGAGTTTAGGGAACTGCTCAAGGTCACCCAGCAAGTTAGAGGTGAGCTGGGATTCAAACCCCAGTCTGGCTGACTTCCCAGCATAGCTCATCCCTCGTCATTCTCACTACCTTGCAGAGGATAATGAACCGCCTAGATGCTCACCTGAGGCGTATTATCGCTGGCAAAACGCGATGGGGAGTTCCCGGCTGGGCACCAGGGTGCCTGAGTGTAGCATCTCAACAGGCTCATTGTCTGTGGCCTGGATGTCGTATTTGCGGACAATCTGTAATGCACACGCACACAAAAACAGAATTACCCCTCTCTTCTTCTGCCTTGTGAAACAGCACAGAACATAATTGCAGAAACCGGTAAAGGTTTTACCCAACAAAGAGCCAAATGCAGTTGAAGCTCTGCTAATCGGCGACCAATGCACATTCTTTTTCCAACGCCAAATGGAAGATGCGCAAAAGGATTAATTTTTTCCTTCTCCTGAAGCCAACGTTCAGGTCTAAACTGACTTGAATCTTCAAAATTGTCTTCACTGGATCCCAACACCTGGGTATTTAGCATGAGCACTGTCTAAACACATGCAGAGACACATAGTATTTAAAATAACCAGAAGAGACCTTTGAATGGCAAAATTGACACAAGTTGTCACCTTACAAATCAAAAGCCAAATCCACAAATTTATAATAATGATGGTTGCCAACATGCGCTGAGTGCTTAAAATGTGCCAGGTAATAAATAGGTAAAGGGCTTTAGAATTGTGCACCATACTCACAACCACCCTGCGCAGCAGATTCTGTTATTAAACCCCTTTTACAGACGAAGTTGAGGCTCACAGAGATTATGTAACTCACTCAAGACAACACAGATAAAAGATGAAACTGAATGCAGGTCTCTGTCTCCATAGCCGTGAATTCTAATTCTATACTATGCAACATGTCAACTATTCTCTACCATCTCTGCATTCCCAAAATGAATATTTTCCAGTACAAAGTCTAGGGAGATCTGGTGAATATTTGCAAAGTGTATCTTCCAAGGTTTTGTAAGGTATAGAATATACAAATTCTACTTACTCCTTTGGGTAAAGCATATTCACCCAGAACTGTTGCCTTGTCAAGAGTCCGAGTTGTAAATGGTACACTCGGCGTAAGCCTGAAAAGATAAAATCAAAGATGTAAAGGTGAGCACAGTCTAAGTTCTCTCTGAAGTGTCAATGGGAATGCAGATTGGATTAAATAAATGCTGCCCAAGTGCATACTCAAAGAGGCAGCATGATCACAGATCTTCCTAAAGAAGTTGTTTTTTTCTTCTCAATAATTGTATCTCTTGTTCCTCTCATCTTCTTGAGTTAGTTAAAACCCCAGTGCAAGGCTGTTTAGTAAACTGTTAACGTTGGTTTTCCCCCTTCATTCCAGACTAAAATGTGTATGTTTCCGTGCTAGCCCTTGAAGCGTGATGTTTGTTCTATGTTTCTCCAATCTACTCTTCACAAAGTTGACAGTATCCTTCTAATCCTAAAATGTTGTGAGTTTTGTTTTCCCAAAAGGATGTAAAAAGAATTTCCAAAAAATGTTTTATACCAGAGGCTCAAAAGCAAAGCTTTCTCTGTGTCCTATTATATAATAATATAGCTCTTTTGTGAGCCTCCATCTCATAACCTTCAATCATGCCCCTATCTTAATTAGTGCTTACAGCGTTCATTAGAGTAGCAAGATTATTGAATTAAAGGGGAGGGCACTGGCTTTCCAAGATTTAATAGAATTTGCCCAAATGATTTAGGAAATGAGTGCCAGAAAAGAAATATGGCTCCAAAGATTTTTTTGCAGTGTGATAATTGTTTCTAATTAGCTAGGGGAAGCCGCCCATGAGTAGGGGACCACTTGTTTTGTGTTTACGAGAACAGTGTTCTAACACATTTATATTGGCTCAGAGATAGGCTCTTACCTCATAGATTCTTTCAGACAGGCTTTTAAATACGGCATATTCCTCAAATCTTCTGCCCGTGGCACCTGATTCTCAGGTAATACACTTTGAATTTCCTTAAGAAGCTTTTGTTGCACTTGGGGATTACGGGATAAATTGTAGAGAATCCACATTAGACTGTTTGCTGTCTGCAAGCCAAATGGACATAAACTTGAGTTTTTGTAAATAACTGCATTAAACCACTATTAGCTGAAAAAAAGGTGATGCCCACCACCTTATTCTGCAAATGTATCAGTGAAGCTCTTTCACGCGTCCTTATAGCTACGCCTTTAGACAAATCCAATATATAAAAAAGCAGACTTATTTCATAAAACATATCAATTAAGGATATATTTTAAATTATTTACTGAGGGAATCAAAGTATAATCCTTTAATCAGCTGCTTTAGAACATTTAAATACAGTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGACTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAACCTCCACC
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ATCCGGGTTTAAACACCGACATGTCAGCCTATAAAGCCATATGTTACAAATGTCTTATTTCCACCACCAGGGGTGGTGGCTCACACTTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATAATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTGTGCACCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCATGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCATTGCACTCCAGCCCAGGTGACAGTGTGAGACACTGTCTCAAAAAAAAAAAAAAAAAAAAAAATTAGGGCCTTCTTAGGCTAACTTTTGATCACTTCAATAGTTTTGAATTCATTGTAATGTCTATTAGGAGAACATAACTAGACTTACTAACTCTTAATTTCATTAAGGAAATTATTACTCAGGACGAGGCCAACATATGCTATTTGGCTTATGTTATTTAAAGGAAATAACTCAGTAGTATTGAAATAAATAGCACCTGGTTGGTATATGGACATGGCAAAAGTTGTGGAGGGAACATGAGAACTCCTCTATTGTCAGAAAAAGTATTGAATGGCATACTGCAGAAAAAATATTCTATTGTGTTCAATACAGGCTGATAAATATATACATTTATATTACATGTGGTTGCATAACACAAACCTAGACCCTAGGGCTAAATACAGTCCACCGCTTGTTTTTTATAAAATTTATCAGAACACAGCCTTTGTAGGCAGAATAACAGATCTCCTAAAATGTGAATGCCCTAATCCCTGGAACACGTGAATATACTACCTTATATGAAAAAAAGGGCTTTCCAGATGAAATTAAATTTATGAACTTGGAGATGGGAGACATGATCCTGGATAATATCTTGTCAGACAGAAGCAATGTAAGAAGAAAGAGAGATTCAAAGTGTGAGAGGGACTCAACCAACCATTGTTACTGGCTTTCAGTTGGGGAAGGTTTCATGAGCCAAGGAATATGGGAAATCTCTCAAAGTTGAGGATCGCCTTCAGCTGACAGCAGCAAAAAAATAAAGACTTCAGTCCTGTAACCATGAAGAACTAAATTCTGCCAACAACCAAACTAGCAAGAGAATAGATCCTCCTCTAGAACCTCCAGAAAGAGCCCCGACAACACGATAATTTTAGCCTGGAAGAGCCTCATCAGACTTCTGACCTATAGAACTGTAAGATAATAGATGTGTGTCGTGTAACTCACTAAGTTTTAGTAATTTGCGGTGGCAGCAATAGAAAGCTAGGACATCAGCTCACTCATTAGTTTACAAATTGCCTGTGGCTGCTTTCATGTTCCAAGGTAGTATTAAGAGGATGTGACAAAGACTGTATGGTCCATAAAACCTAAAATATTTGCCAACTGGCCCTTTACGGAAAAAGTTTGCCAACCCTTACTATTCACATGCAAAAACCATGAACAGCTGCTAGCATTTACTGAACACTTAATTGATGCCAGGCTCAGGAATAACTACTTGGTATTCATATTAAATTTTTGTGATACACTCTCTTTGGGTCATCATTTTACAAATGAAAAAAAAAAAGGAAGTAGAGAGTTTAGGGAACTGCTCAAGGTCACCCAGCAAGTTAGAGGTGAGCTGGGATTCAAACCCCAGTCTGGCTGACTTCCCAGCATAGCTCATCCCTCGTCATTCTCACTACCTTGCAGAGGATAATGAACCGCCTAGATGCTCACCTGAGGCGTATTATCGCTGGCAAAACGCGATGGGGAGTTCCCGGCTGGGCACCAGGGTGCCTGAGTGTAGCATCTCAACAGGCTCATTGTCTGTGGCCTGGATGTCGTATTTGCGGACAATCTGTAATGCACACGCACACAAAAACAGAATTACCCCTCTCTTCTTCTGCCTTGTGAAACAGCACAGAACATAATTGCAGAAACCGGTAAAGGTTTTACCCAACAAAGAGCCAAATGCAGTTGAAGCTCTGCTAATCGGCGACCAATGCATTCTTTTTCCAACGCCAAATGGAAGATGCGCAAAAGGATTAATTTTTTCCTTCTCCTGAAGCCAACGTTCAGGTCTAAACTGACTTGAATCTTCAAAATTGTCTTCACTGGATCCCAACACCTGGGTATTTAGCATGAGCACTGTCTAAACACATGCAGAGACACATAGTATTTAAAATAACCAGAAGAGACCTTTGAATGGCAAAATTGACACAAGTTGTCACCTTACAAATCAAAAGCCAAATCCACAAATTTATAATAATGATGGTTGCCAACATGCGCTGAGTGCTTAAAATGTGCCAGGTAATAAATAGGTAAAGGGCTTTAGAATTGTGCACCATACTCACAACCACCCTGCGCAGCAGATTCTGTTATTAAACCCCTTTTACAGACGAAGTTGAGGCTCACAGAGATTATGTAACTCACTCAAGACAACACAGATAAAAGATGAAACTGAATGCAGGTCTCTGTCTCCATAGCCGTGAATTCTAATTCTATACTATGCAACATGTCAACTATTCTCTACCATCTCTGCATTCCCAAAATGAATATTTTCCAGTACAAAGTCTAGGGAGATCTGGTGAATATTTGCAAAGTGTATCTTCCAAGGTTTTGTAAGGTATAGAATATACAAATTCTACTTACTCCTTTGGGTAAAGCATATTCACCCAGAACTGTTGCCTTGTCAAGAGTCCGAGTTGTAAATGGTACACTCGGCGTAAGCCTGAAAAGATAAAATCAAAGATGTAAAGGTGAGCACAGTCTAAGTTCTCTCTGAAGTGTCAATGGGAATGCAGATTGGATTAAATAAATGCTGCCCAAGTGCATACTCAAAGAGGCAGCATGATCACAGATCTTCCTAAAGAAGTTGTTTTTTTCTTCTCAATAATTGTATCTCTTGTTCCTCTCATCTTCTTGAGTTAGTTAAAACCCCAGTGCAAGGCTGTTTAGTAAACTGTTAACGTTGGTTTTCCCCCTTCATTCCAGACTAAAATGTGTATGTTTCCGTGCTAGCCCTTGAAGCGTGATGTTTGTTCTATGTTTCTCCAATCTACTCTTCACAAAGTTGACAGTATCCTTCTAATCCTAAAATGTTGTGAGTTTTGTTTTCCCAAAAGGATGTAAAAAGAATTTCCAAAAAATGTTTTATACCAGAGGCTCAAAAGCAAAGCTTTCTCTGTGTCCTATTATATAATAATATAGCTCTTTTGTGAGCCTCCATCTCATAACCTTCAATCATGCCCCTATCTTAATTAGTGCTTACAGCGTTCATTAGAGTAGCAAGATTATTGAATTAAAGGGGAGGGCACTGGCTTTCCAAGATTTAATAGAATTTGCCCAAATGATTTAGGAAATGAGTGCCAGAAAAGAAATATGGCTCCAAAGATTTTTTTGCAGTGTGATAATTGTTTCTAATTAGCTAGGGGAAGCCGCCCATGAGTAGGGGACCACTTGTTTTGTGTTTACGAGAACAGTGTTCTAACACATTTATATTGGCTCAGAGATAGGCTCTTACCTCATAGATTCTTTCAGACAGGCTTTTAAATACGGCATATTCCTCAAATCTTCTGCCCGTGGCACCTGATTCTCAGGTAATACACTTTGAATTTCCTTAAGAAGCTTTTGTTGCACTTGGGGATTACGGGATAAATTGTAGAGAATCCACATTAGACTGTTTGCTGTCTGCAAGCCAAATGGACATAAACTTGAGTTTTTGTAAATAACTGCATTAAACCACTATTAGCTGAAAAAAAGGTGATGCCCACCACCTTATTCTGCAAATGTATCAGTGAAGCTCTTTCACGCGTCCTTATAGCTACGCCTTTAGACAAATCCAATATATAAAAAAGCAGACTTATTTCATAAAACATATCAATTAAGGATATATTTTAAATTATTTACTGAGGGAATCAAAGTATAATCCTTTAATCAGCTGCTTTAGAACATTTAAATACAGTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGACTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAACCTCCACCNN
|
pathogenic
| 314,894 |
Chromosome 20, position 54165795, gene CYP24A1 (cytochrome P450 family 24 subfamily A member 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Hypercalcemia,_infantile,_1']
|
ATGTTAACTGTAATCTGTAGTAGACCCAGAAACAGTTACATTGAGGTAGGTTCTCTTATTATTATTATTAATTATTAGTCCATTTTAGAGACAAGGCAACTGAGGATGAAAAGGTGATTGCACATTTGGCCAAGCCACCACAACCAGTGACAGAGCTGAACTTGAACTCAGGAGTCCCTGACTCTATAAATTTTACTTTTTTATTTTGAGATGGAGTCTCACTCTGCCTCCCAAGATGGAGTGCAGTGGCTCAGTCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCAGCTAATTTTTGTATTTGTAGTAGAGACTGGGTTTCACCGTGTTGACCGGGCTGATCTCAAACTCCTGGCCTCAAGTGATCTGCTCGCCTGGGCCACCCAAAGTGCTGGGATTACAGGGGTGAGCCACTGCACCTGGCCAGATTTTACTTTTAACCACTCTTAATTCCCAAAGAAGACTACAGAAAGCTTGTTACTTAGAATTTGTGTATGCTGGGGCAATCCCCAAAACACCTGTGTTTGCAAAACCTAAATGTGGTGATGAGGCTCAGGAGATCACTCCAGACCTCCTCTCTGAAGCTCCAGACACGGGGGTGCTGGGCTGGTTCTGGCTGGTTGTGAAGGGCGGCCCTTTACCTGATTTGAAAATGGTGTCCCAGGCCAGAGTGTGGTCCTGCCAGACCTTGGTGTTGAGGCTCTTGTGCAGCTCGACTGGAGTGACCATCATCCTCCCAAACGTGCTCATCATCTGAGAGAAATGCAAATGCCTTTTTATTCTGAATTCTCCTTCTCTCAAAGACAATGTTCGTTCTGGAAGAGGAACATTCTAAACCGCAGCACCCTGCACTTTTTAAAAGGCTGGAATTACAAGGACACCCCCGGCTCTCTCTGCACCGGTCCTGGGAGCAATGCCCGTACCCCACCTCCACCTCCTTTCAATATTGAAGGTAATGTGGGGGATGATTTTCCACTGGATGTGTTTGATAAAAATTGTAATCTTATGACCTAATTGTAAAAAAAAAAAAAAAAAGAGGAAAAACGATAACTTTCATATTCACTTCAATTTCTAATAATTTCCAAACTTCAGTGATTTCCAAACCAATTTCACAGCGTTTATCCTATCTACACGCCACCCAAACTATTCAAAAAGATAAAATCTGAAAAATTTTGGGCTCTTTTTAAAAAGTATTTTTAATCAACTGATCTTTAATTAAAATAGCTATTTTAACCTTGCCTAAACAAAGAAATAATGGATTTAATGTGCTTCTTTATGTTACGTGCATATATCCAGGGGTCCCCAACCCCCAGGCCGTGAACCAGTACTGGTCAGTGGCCTGTTAGGAACGGGGCCGCGCAGCAGGAGGTGATCAGCGGGCCAGCAGGTGTTACCACCTGAGCTCTGCCTCCTCTCAGATCAATGGCTGCATTAGATTCTTACAGGAGTGTGAACCCTATTGTGAATTGCCTATGCGAGGAATCTATGTTCCACACTCCTTATGAGAATCTAATGCCTGATGATCTGTCACTGTCTCCCATCACCCCCAGATGGGACTTTCGTGTTGCACGAAAACAAGCTCAGGGCTCCCACTGATTCTACATTATGGTGAGTATATAATAATAACAGAAATAAAGTGCACAGTAAACGTAATGCACTTAAATGATCCTCCCTCCCCTGCCCCACCACCCTGCCCTGTCCATGGAAAAATTGTCTTCCACGAAACTGGTCCCTGGTGCCAAAAAGGTTGGAGACAGCCGCATATATGCACATAAATATACTAAAATATATAATGCACATTAAAATGAACACTTAACTATTGAAATAAAATATGTGTGTATGCCATTTTTTGGGAATCACTGTGAAGTTCTGTAAAAATCGATCTGTAAAACATCAATCAAGAAAACTGCTTTCTTAAAGAGGCTGCTTACTGTTTTGATGGCCATGATGAAGTTCACAGCTTCATCCCCTGCATTCTTCTGGAGAAGCCCAAATCTCTTCTCATACAACACGAGGCAGATACCTGTCATTTAAAATAATCATCACTTTACACAAACAGCAATGCTGGAGTTGGAGTCTATGTTTAGCTGGTTATTAAAGACTCAATTCTATGCCTCTTAAAAGTGTGGGATTTTCTGAGAAAAGGCAACAGTCCAAGAATATTGAGGAAAAGCAGAGTCTGAGAGAAAGGGGACACCATCACTTTCTTTTTCTAGAAATTATCTCCAGGTCCAATGACTCATCACCTCAGAGTGTCATGATCAGAGATCCACTGTCCTGATCAAGTCACACAGGAGATCCAGGGGCCCTAGCAAAGGTGCTGCAGGGTCGGGTCTGCACTCTGCCTCTAACCCAGCTGTGTTTTTAGAGTCACTTATTGGATTCTATCTCCTGACATAATGAATTGGAAGCCATTCACCAGAGGAAGAGAAGGGAAGGGAATAATTATGTTCTAAACACCCATTACACGCCAGGTACTGGGCTAGCACTTCATATAGGGTTTTTTTTCCTTCCATTTCATCATTTTATTTAGAAGGAACCTTTTTACAAATAAAATTCTCAACTCTTCATTTCAAAACTTTTTACCTAGAGAAAAGTTGAAGGAATGGTAAAATGAATACCTGAATCCCCCGAACTCATCAACATCTTGCTGCCATTTCTTTCTCTTTGTGTGTATGTATGCATACAAGTGTATACGTGGTTGTGTGTGCTGAAGCATCTGAAAATAATTTTGAGCTCTCAGGTCACTTCACCGTTAAATACTTTAGCAGTAATGTCCTAAGAATAAAGCATTCTCCAACATAACCACAATGTCATTAACATCCCTAAGAACCTTAGCGACCATTCCATAAAAAATCTACTGTGTCCCATTTTAAAATGTTCCCCATTGTCCTAAAAATTATCTCTTGTAACCTTTTTTTTTTAAAAAAAGGACACAGGGCCGAGCGTGGTGGTTCACACCTGTAATCCCAACACTTCAGGAGGCTCGGGCAGGCAGACTGCTTGAGCCCAGGAGTTCGAGAATAGCCTGGGCAACATGGCAAAACGCTGTCTCTACAAAAAAATAAAAATAAAAAAATTATTCAGGCATGGCTACATGTGCCTGTAGTTCCAGCTACTCTGGAGGCTGAGGTGGGAAGATCTCTTGGGCCCAGGAGGCCGAGGTTGCAGTGGGCCGAGATCATACCACTGGCCACTGCACCCTAGCCTGAGTGACACAGTCTGGAAAAAAAAAATTATACAGGATTACTGCAACCAACTTTTTAGTGGTGGATAATTGGCTCTTGACTTATAAAGTAGGAGACTAGCATTAAAAAGGTAAACAAATGGCCTAAAATCATAAACCTGAGGAGTGAGAGTCAATTAGCTTAGTCAGCACCCACCCACAGCTTTTCCAACTACCTCCATGTTTTCCAAACTCTACTTATTTCTTCCCAGCCTTTCAAGGTTTCCCCGTATTTGTGTTCCACAGTGGTTGGCAGGTACACCACTGGGAATATGTGAGATAGCTCTGGATGGTACATGAACTTTAAAAATAATTAGTTACTCTGCTGGGCACAATGGCTCATGCTTGTAATCCCAGCACTCTCAGAGGTGGAGGTGGGAGCATCATCTGAGGTCAGGAGTTTGAGACCAACCGGTGGCAAAACCCCATCTCTACTTAAAAAACACAAAAGTTAGTCAGGCGTGGTATCGCACGCCTGCAATACCAGCACTTTGGGAGGCTGAGGTAAGTGGATCACCTGAGGTCAGCAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTGTACTAAAAAACACAAAAATCAGCCAGGCATGGTGGTGTGCACCTGTAGTCCCAGCTGCTCAGGATGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGGCAGAGTGAGAGTCTGTCTCAAATAAGTAATTAAAAAAAGTTACTTATATTTATCTATTTATGGCAATATTTCTGACCTTGAATTTATGGAA
|
ATGTTAACTGTAATCTGTAGTAGACCCAGAAACAGTTACATTGAGGTAGGTTCTCTTATTATTATTATTAATTATTAGTCCATTTTAGAGACAAGGCAACTGAGGATGAAAAGGTGATTGCACATTTGGCCAAGCCACCACAACCAGTGACAGAGCTGAACTTGAACTCAGGAGTCCCTGACTCTATAAATTTTACTTTTTTATTTTGAGATGGAGTCTCACTCTGCCTCCCAAGATGGAGTGCAGTGGCTCAGTCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCAGCTAATTTTTGTATTTGTAGTAGAGACTGGGTTTCACCGTGTTGACCGGGCTGATCTCAAACTCCTGGCCTCAAGTGATCTGCTCGCCTGGGCCACCCAAAGTGCTGGGATTACAGGGGTGAGCCACTGCACCTGGCCAGATTTTACTTTTAACCACTCTTAATTCCCAAAGAAGACTACAGAAAGCTTGTTACTTAGAATTTGTGTATGCTGGGGCAATCCCCAAAACACCTGTGTTTGCAAAACCTAAATGTGGTGATGAGGCTCAGGAGATCACTCCAGACCTCCTCTCTGAAGCTCCAGACACGGGGGTGCTGGGCTGGTTCTGGCTGGTTGTGAAGGGCGGCCCTTTACCTGATTTGAAAATGGTGTCCCAGGCCAGAGTGTGGTCCTGCCAGACCTTGGTGTTGAGGCTCTTGTGCAGCTCGACTGGAGTGACCATCATCCTCCCAAACGTGCTCATCATCTGAGAGAAATGCAAATGCCTTTTTATTCTGAATTCTCCTTCTCTCAAAGACAATGTTCGTTCTGGAAGAGGAACATTCTAAACCGCAGCACCCTGCACTTTTTAAAAGGCTGGAATTACAAGGACACCCCCGGCTCTCTCTGCACCGGTCCTGGGAGCAATGCCCGTACCCCACCTCCACCTCCTTTCAATATTGAAGGTAATGTGGGGGATGATTTTCCACTGGATGTGTTTGATAAAAATTGTAATCTTATGACCTAATTGTAAAAAAAAAAAAAAAAAGAGGAAAAACGATAACTTTCATATTCACTTCAATTTCTAATAATTTCCAAACTTCAGTGATTTCCAAACCAATTTCACAGCGTTTATCCTATCTACACGCCACCCAAACTATTCAAAAAGATAAAATCTGAAAAATTTTGGGCTCTTTTTAAAAAGTATTTTTAATCAACTGATCTTTAATTAAAATAGCTATTTTAACCTTGCCTAAACAAAGAAATAATGGATTTAATGTGCTTCTTTATGTTACGTGCATATATCCAGGGGTCCCCAACCCCCAGGCCGTGAACCAGTACTGGTCAGTGGCCTGTTAGGAACGGGGCCGCGCAGCAGGAGGTGATCAGCGGGCCAGCAGGTGTTACCACCTGAGCTCTGCCTCCTCTCAGATCAATGGCTGCATTAGATTCTTACAGGAGTGTGAACCCTATTGTGAATTGCCTATGCGAGGAATCTATGTTCCACACTCCTTATGAGAATCTAATGCCTGATGATCTGTCACTGTCTCCCATCACCCCCAGATGGGACTTTCGTGTTGCACGAAAACAAGCTCAGGGCTCCCACTGATTCTACATTATGGTGAGTATATAATAATAACAGAAATAAAGTGCACAGTAAACGTAATGCACTTAAATGATCCTCCCTCCCCTGCCCCACCACCCTGCCCTGTCCATGGAAAAATTGTCTTCCACGAAACTGGTCCCTGGTGCCAAAAAGGTTGGAGACAGCCGCATATATGCACATAAATATACTAAAATATATAATGCACATTAAAATGAACACTTAACTATTGAAATAAAATATGTGTGTATGCCATTTTTTGGGAATCACTGTGAAGTTCTGTAAAAATCGATCTGTAAAACATCAATCAAGAAAACTGCTTTCTTAAAGAGGCTGCTTACTGTTTTGATGGCCATGATGAAGTTCACAGCTTCATCCCCTGCATTCTTCTGGAGAGCCCAAATCTCTTCTCATACAACACGAGGCAGATACCTGTCATTTAAAATAATCATCACTTTACACAAACAGCAATGCTGGAGTTGGAGTCTATGTTTAGCTGGTTATTAAAGACTCAATTCTATGCCTCTTAAAAGTGTGGGATTTTCTGAGAAAAGGCAACAGTCCAAGAATATTGAGGAAAAGCAGAGTCTGAGAGAAAGGGGACACCATCACTTTCTTTTTCTAGAAATTATCTCCAGGTCCAATGACTCATCACCTCAGAGTGTCATGATCAGAGATCCACTGTCCTGATCAAGTCACACAGGAGATCCAGGGGCCCTAGCAAAGGTGCTGCAGGGTCGGGTCTGCACTCTGCCTCTAACCCAGCTGTGTTTTTAGAGTCACTTATTGGATTCTATCTCCTGACATAATGAATTGGAAGCCATTCACCAGAGGAAGAGAAGGGAAGGGAATAATTATGTTCTAAACACCCATTACACGCCAGGTACTGGGCTAGCACTTCATATAGGGTTTTTTTTCCTTCCATTTCATCATTTTATTTAGAAGGAACCTTTTTACAAATAAAATTCTCAACTCTTCATTTCAAAACTTTTTACCTAGAGAAAAGTTGAAGGAATGGTAAAATGAATACCTGAATCCCCCGAACTCATCAACATCTTGCTGCCATTTCTTTCTCTTTGTGTGTATGTATGCATACAAGTGTATACGTGGTTGTGTGTGCTGAAGCATCTGAAAATAATTTTGAGCTCTCAGGTCACTTCACCGTTAAATACTTTAGCAGTAATGTCCTAAGAATAAAGCATTCTCCAACATAACCACAATGTCATTAACATCCCTAAGAACCTTAGCGACCATTCCATAAAAAATCTACTGTGTCCCATTTTAAAATGTTCCCCATTGTCCTAAAAATTATCTCTTGTAACCTTTTTTTTTTAAAAAAAGGACACAGGGCCGAGCGTGGTGGTTCACACCTGTAATCCCAACACTTCAGGAGGCTCGGGCAGGCAGACTGCTTGAGCCCAGGAGTTCGAGAATAGCCTGGGCAACATGGCAAAACGCTGTCTCTACAAAAAAATAAAAATAAAAAAATTATTCAGGCATGGCTACATGTGCCTGTAGTTCCAGCTACTCTGGAGGCTGAGGTGGGAAGATCTCTTGGGCCCAGGAGGCCGAGGTTGCAGTGGGCCGAGATCATACCACTGGCCACTGCACCCTAGCCTGAGTGACACAGTCTGGAAAAAAAAAATTATACAGGATTACTGCAACCAACTTTTTAGTGGTGGATAATTGGCTCTTGACTTATAAAGTAGGAGACTAGCATTAAAAAGGTAAACAAATGGCCTAAAATCATAAACCTGAGGAGTGAGAGTCAATTAGCTTAGTCAGCACCCACCCACAGCTTTTCCAACTACCTCCATGTTTTCCAAACTCTACTTATTTCTTCCCAGCCTTTCAAGGTTTCCCCGTATTTGTGTTCCACAGTGGTTGGCAGGTACACCACTGGGAATATGTGAGATAGCTCTGGATGGTACATGAACTTTAAAAATAATTAGTTACTCTGCTGGGCACAATGGCTCATGCTTGTAATCCCAGCACTCTCAGAGGTGGAGGTGGGAGCATCATCTGAGGTCAGGAGTTTGAGACCAACCGGTGGCAAAACCCCATCTCTACTTAAAAAACACAAAAGTTAGTCAGGCGTGGTATCGCACGCCTGCAATACCAGCACTTTGGGAGGCTGAGGTAAGTGGATCACCTGAGGTCAGCAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTGTACTAAAAAACACAAAAATCAGCCAGGCATGGTGGTGTGCACCTGTAGTCCCAGCTGCTCAGGATGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCGCTGCACTCCAGCCTGGGGCAGAGTGAGAGTCTGTCTCAAATAAGTAATTAAAAAAAGTTACTTATATTTATCTATTTATGGCAATATTTCTGACCTTGAATTTATGGAAN
|
pathogenic
| 314,921 |
Variant in gene CYP24A1 (cytochrome P450 family 24 subfamily A member 1), located at chromosome 20 position 54172927: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Hypercalcemia,_infantile,_1']
|
AAAGAGATTACTTTATGCTTAAAACTCCCTTTGACTCCGTGCTGGCTAAGGGATAATGTCCAAATACCTTAGTATAATACAAAAATATTGTTAAGACCTATCCAGTATCATTTCAGAGAAAGCCTCACATCAGCTACACTAAATGACCGATTCTCTGAACACACCACGTCATTTCATGCCTCCCTGTTTTCAGAAGGCTACTCTGTCTGCCTTAATGCCTTCCCCCACTTTCTCTGCTTTCAGACTCCTCCTGCAAAACCCAGCTCAAATATCACTACTTAAGAACTTTACAATGTTATCTCATTTAATTCTCACAGCAAACCCGTGGGGTGGGAACTGTTACTCCCATTTTGTAGATGGGGAAACTGAGGCTTAGGGAAGGTAAGTGGTATATAGCCAGGTCTCATAGCCAGGGAGTGGAAAGCTGGGGTTCAAATCCAGGGCTGTAGAATACCAAAGTCCACACTCTCCATTGCTCCCTCATTGTGATATGACTTTAAAAGAGGGTGGAGGAGGGAGAAATAAGGGTTTGGTGGGGAGGAGGCTGTAGGAAGGAATGGAGAGAAAGAGAAGACCCCCACTTTGAATCACCCGAATTGCATTCTTTTTTCCTTTGTTCTTTGTAGCTGTGACTTGAAGCTCCACCAATATCCCTATGTCCCCACGAGCCCCAGGAAAGCTGGCCCCAGCCTGCAGACCTCATTGATTTTGTTGTCCAGCTTCATCACTTCCCCTGGTTTCATTAGTTTCTTTTGAAAGGCACTCCGGACCCGCTGCCAGTCTTCCCCTTCCCTGTGAGAGAAGCAGGAATACATTTAGAGCACACTGAAAAGAAAAGAAGGAGATGCAGAAATACTCCAGCTGCAACTTCAGGAACCATAAAATCAAACAAACACTGAGAATCATGCCAAGAAATAGCCAGAGAATATTAGCATCAGAATATTTGGGATAAAATAGTGATCATCTTTTGACAATAGTTTGACAATAGGATGAAAAAGCACCTTTCCTCCTAGTCAAAGATTGCACCAAAAAGTTGAAGTCCAGATAATTTGGGTTCAGGGATTTTGAGGTGTCCTTGCAGGGAGTGGGGCTGGGAGGCCTGGGGACAATTCCTAGCGGTAAAAGGGGGCATGTGAACACCCCATCACCAGCAACTCAGATCTGTTTGAGGGAAGAATCTTGTCTTCTTTCAACTCATTGGTGTGGGCTTCATATTTACAAAATATCTCAGATTTAGAATTTTGCCATCGCCTCCAAATAATAACATACAGTCAGAGAGTCACTGGAGTAATAAAAAGCCTTTTGCGATCGTGCACTTGTAGGCACCTGCCCCATAGCAGACCATACAGCCTGTGAAGCACCGTGAATTAATAGGGTTTTTAATTCCAGTCATTATATCCTGGAAAATATAACGATTAGGCATTACAGTTTGGGGGTAAATAAAGGTGCTAACTTGTTAAATGCTAACAACTAAAAAGCAGAAGAATCACATCCCATAGTAGCATTTGTCGACCTAAAACACAACTTTGATATCCCTCCTTATTCCACCTTTACAAGTAGAAATAAGGCATGTCCCCCAATCCTCTGCAGAAAATGTCACTGTAAAAAGCCAAAGAGGCTAACTCCTCGCTTTTGAGCTTACAAGGTGTTTCAGGGAGTTTTAAGGGATAATTTTGTTTGTATAAGATGTTTGCCTGGTACGCTGACTTCAGAACCTCATCCTGCCCAAGAGTCTGAACACCACAGTTGGTACAACCCTGTTTTGGCGTTTCTTTGATGGGAGGGTGTGGCCCTGCCCTGTTGCCAGAGAGAACGCAGGTGCTGGGTGCACAGCACGGCTTTTCCGTGGACCGACTCTAATCTGTACAAGAGCTCAGGGTTGCGATGGCACGGGAGAGGGGCTTTGGTATCCGCCCTACGTAAGAAGCTTCCAACCCCAGGGAACTCTAACTCCGCCTCTTCACAATTTCCAGGCGCCGTCAGGCTCATCAGGTCTGGCCGCATGCCCAGGTCCCTCGGATTGGACTCACAGGATCAGCAGCCCGTAGCCTTCTTTGCGGTAGTCGCGATAGGCCTTCCACGGTTTGATCTCCAGCCGCTGCGGGTACGCGCTCTCGGTGCGGTACAGCGCTTCCAGCAGGCATGGCGAGCCCAGGTGCACCGACTCAAAGGAACCCAACTTCATGCGGAAAATCTTGCCATACTTCTTGTGGTACTCCACCTGCAGCCGGCCGGGCACAGCGCGGTGTCAGCGCGCATCCTCCGCCGTGCCCGAAGCGCTTTCCCTCCTCCCGCCTCCTTCCTCCTAGGGGACCGGGGACCCTCCCTGCCCAGACGCCGAAGCGCACCATGCGCCCGAGGCGCGCATGTCGGGGAGGGTTTGGAGCGCCACTGGGAGGGCGGAAGAGGGAGGAGAGAGTCAGGGGCGCGAAAAGGGGTTTACCAGGGTGTCGTGCTGTTTCTTGAGACCCCCTTTCCAGAGAATCTGCAGCAGGCTGCCCAGCAGTGGCCAGCTGGTGGGGCCCGGCAGGGCGGCCGCGTTCTGAGTCTCGCCACCAGCTGTCAGCGGGCAGACTGGCACCTCTCGCGGCTGAGGGGACGTGTACGCCGTAGATGTCACCAGTCTCGGGGGCTGCCTCGGACTGCGCAGCTGCTGCAGGAAGGCGGCAAGCGAGCGGCTCTTGCTGATGGGGGAGCTCATGGCAGCGGGGGACACCGGAGCGCGGGAAGGCAGGAGGATGGGGTGGGGCGAGGTTGGTACGAGGTGCTAGTGGGAGTCGGGGCTTAACGATTCTGGGAAAAGGAAGCAAAGAGGGCCAGCTGGTGTGATGGAGCGGGGTGAGGCGGGACAGGCAGCAGAAAGGACCTCGGCGAGGATGCTCGACGCTGCACCACGCGACAGCCTCAGAGCATTGGTGCCTCCTTGCACTGGCCGCAGGGGCTGGAAGAGGGTGGCCGGTGTCTGGGGACCTCTTGAAAAGGGAAAGCTGGGAGTCCTCCTGTTGGTCCGCAAGGCTGACCTCTAGGGTCTGGCTGGAGCCACGGGGAGGTGTCAAGGAGGGTAGATGAGATGCTGCTGGCGCTGCGTTTCCTCCTGTCCCTCTCCATGTTCCTATGCCCAGGGACCATGCATTTATGGAGACAGAGCATGCCCTGGGTGGCCAATGAGCACGCAGAGGAGGGCGGAGTGGCCCCCGGCTGGCCAGACTCCGAGGGACGCGGGACCCAGGGGAGGGGGGGTGGAAGGAGGATGGAGTCAGCGAGGTGAGCGAGGGCGTCCGGGCCTGGGGTGACCGGGGCTATGTTCGCTGGGCGCGGGAGGTGGGGTGGGGGCGGCAGACTCCACCCCGGAGATAACCCCCAGGAAGTCATGCGAAGCCCGGAGTTCACCGGGTGTGCTTCGAACGCGCCTCCCCGCCCTCCCCCGGCGGGCAGGAGCCGGCAGCGGCGGCCGTGGTTGCCGCCCGGCGCTTGCACAATCGCGATGCCGGGCGGGCGAGGTCCCCGAGTGCGGGCCCAGAAAAGCTGCCGGCGTCTGCCAGGGCCCCGGGGAGCCCGGGCGCCTCCCGGGGAGCCAGATACCCCCAGCCTGGACTGAAGTGATTTTTTTTTTTTTTTTGCCTTTTTTTTTTTGGAGGAAGTTTGGCTTTCTGCGCCTCCCAGGGTGGGGAGGATTTGAGTCTTACTGAAATGCACCAGAAGAGGAGACTTTCTTAACTTGAGCAAGAAGGGGAGTTTGTAGAATTTCCTTCCTGCTGTTTCATGTTTGGTTGTTTTGCAGATTAAATGAATTAATGCACGTAAAGCGGCAACAACGAAGCCTTGTCTATAGTCAACAGTCAATAAAAGTTAGTTGCTGTTGTTACTTCTTTAGGAAGTTAGGAAATGCGCCTTGAGAGCGTGGCTTGCACCAACGATGCTTGAATTCAGGCTGGGCCACCTCCCCTATGTCCACTGCCCGCCTCTGTTCTTCTACACCGACTACCTTGTGCAAAGGAGGGGCACACAGAGCTTGAAACCACCGCCCCCAGTACTCCCCCTCTCCCCCAAGGTGCGTCCTAGGCAGGTCCAGTGACAAACATACACAATTTCTAGA
|
AAAGAGATTACTTTATGCTTAAAACTCCCTTTGACTCCGTGCTGGCTAAGGGATAATGTCCAAATACCTTAGTATAATACAAAAATATTGTTAAGACCTATCCAGTATCATTTCAGAGAAAGCCTCACATCAGCTACACTAAATGACCGATTCTCTGAACACACCACGTCATTTCATGCCTCCCTGTTTTCAGAAGGCTACTCTGTCTGCCTTAATGCCTTCCCCCACTTTCTCTGCTTTCAGACTCCTCCTGCAAAACCCAGCTCAAATATCACTACTTAAGAACTTTACAATGTTATCTCATTTAATTCTCACAGCAAACCCGTGGGGTGGGAACTGTTACTCCCATTTTGTAGATGGGGAAACTGAGGCTTAGGGAAGGTAAGTGGTATATAGCCAGGTCTCATAGCCAGGGAGTGGAAAGCTGGGGTTCAAATCCAGGGCTGTAGAATACCAAAGTCCACACTCTCCATTGCTCCCTCATTGTGATATGACTTTAAAAGAGGGTGGAGGAGGGAGAAATAAGGGTTTGGTGGGGAGGAGGCTGTAGGAAGGAATGGAGAGAAAGAGAAGACCCCCACTTTGAATCACCCGAATTGCATTCTTTTTTCCTTTGTTCTTTGTAGCTGTGACTTGAAGCTCCACCAATATCCCTATGTCCCCACGAGCCCCAGGAAAGCTGGCCCCAGCCTGCAGACCTCATTGATTTTGTTGTCCAGCTTCATCACTTCCCCTGGTTTCATTAGTTTCTTTTGAAAGGCACTCCGGACCCGCTGCCAGTCTTCCCCTTCCCTGTGAGAGAAGCAGGAATACATTTAGAGCACACTGAAAAGAAAAGAAGGAGATGCAGAAATACTCCAGCTGCAACTTCAGGAACCATAAAATCAAACAAACACTGAGAATCATGCCAAGAAATAGCCAGAGAATATTAGCATCAGAATATTTGGGATAAAATAGTGATCATCTTTTGACAATAGTTTGACAATAGGATGAAAAAGCACCTTTCCTCCTAGTCAAAGATTGCACCAAAAAGTTGAAGTCCAGATAATTTGGGTTCAGGGATTTTGAGGTGTCCTTGCAGGGAGTGGGGCTGGGAGGCCTGGGGACAATTCCTAGCGGTAAAAGGGGGCATGTGAACACCCCATCACCAGCAACTCAGATCTGTTTGAGGGAAGAATCTTGTCTTCTTTCAACTCATTGGTGTGGGCTTCATATTTACAAAATATCTCAGATTTAGAATTTTGCCATCGCCTCCAAATAATAACATACAGTCAGAGAGTCACTGGAGTAATAAAAAGCCTTTTGCGATCGTGCACTTGTAGGCACCTGCCCCATAGCAGACCATACAGCCTGTGAAGCACCGTGAATTAATAGGGTTTTTAATTCCAGTCATTATATCCTGGAAAATATAACGATTAGGCATTACAGTTTGGGGGTAAATAAAGGTGCTAACTTGTTAAATGCTAACAACTAAAAAGCAGAAGAATCACATCCCATAGTAGCATTTGTCGACCTAAAACACAACTTTGATATCCCTCCTTATTCCACCTTTACAAGTAGAAATAAGGCATGTCCCCCAATCCTCTGCAGAAAATGTCACTGTAAAAAGCCAAAGAGGCTAACTCCTCGCTTTTGAGCTTACAAGGTGTTTCAGGGAGTTTTAAGGGATAATTTTGTTTGTATAAGATGTTTGCCTGGTACGCTGACTTCAGAACCTCATCCTGCCCAAGAGTCTGAACACCACAGTTGGTACAACCCTGTTTTGGCGTTTCTTTGATGGGAGGGTGTGGCCCTGCCCTGTTGCCAGAGAGAACGCAGGTGCTGGGTGCACAGCACGGCTTTTCCGTGGACCGACTCTAATCTGTACAAGAGCTCAGGGTTGCGATGGCACGGGAGAGGGGCTTTGGTATCCGCCCTACGTAAGAAGCTTCCAACCCCAGGGAACTCTAACTCCGCCTCTTCACAATTTCCAGGCGCCGTCAGGCTCATCAGGTCTGGCCGCATGCCCAGGTCCCTCGGATTGGACTCACAGGATCAGCAGCCCGTAGCCTTTGCGGTAGTCGCGATAGGCCTTCCACGGTTTGATCTCCAGCCGCTGCGGGTACGCGCTCTCGGTGCGGTACAGCGCTTCCAGCAGGCATGGCGAGCCCAGGTGCACCGACTCAAAGGAACCCAACTTCATGCGGAAAATCTTGCCATACTTCTTGTGGTACTCCACCTGCAGCCGGCCGGGCACAGCGCGGTGTCAGCGCGCATCCTCCGCCGTGCCCGAAGCGCTTTCCCTCCTCCCGCCTCCTTCCTCCTAGGGGACCGGGGACCCTCCCTGCCCAGACGCCGAAGCGCACCATGCGCCCGAGGCGCGCATGTCGGGGAGGGTTTGGAGCGCCACTGGGAGGGCGGAAGAGGGAGGAGAGAGTCAGGGGCGCGAAAAGGGGTTTACCAGGGTGTCGTGCTGTTTCTTGAGACCCCCTTTCCAGAGAATCTGCAGCAGGCTGCCCAGCAGTGGCCAGCTGGTGGGGCCCGGCAGGGCGGCCGCGTTCTGAGTCTCGCCACCAGCTGTCAGCGGGCAGACTGGCACCTCTCGCGGCTGAGGGGACGTGTACGCCGTAGATGTCACCAGTCTCGGGGGCTGCCTCGGACTGCGCAGCTGCTGCAGGAAGGCGGCAAGCGAGCGGCTCTTGCTGATGGGGGAGCTCATGGCAGCGGGGGACACCGGAGCGCGGGAAGGCAGGAGGATGGGGTGGGGCGAGGTTGGTACGAGGTGCTAGTGGGAGTCGGGGCTTAACGATTCTGGGAAAAGGAAGCAAAGAGGGCCAGCTGGTGTGATGGAGCGGGGTGAGGCGGGACAGGCAGCAGAAAGGACCTCGGCGAGGATGCTCGACGCTGCACCACGCGACAGCCTCAGAGCATTGGTGCCTCCTTGCACTGGCCGCAGGGGCTGGAAGAGGGTGGCCGGTGTCTGGGGACCTCTTGAAAAGGGAAAGCTGGGAGTCCTCCTGTTGGTCCGCAAGGCTGACCTCTAGGGTCTGGCTGGAGCCACGGGGAGGTGTCAAGGAGGGTAGATGAGATGCTGCTGGCGCTGCGTTTCCTCCTGTCCCTCTCCATGTTCCTATGCCCAGGGACCATGCATTTATGGAGACAGAGCATGCCCTGGGTGGCCAATGAGCACGCAGAGGAGGGCGGAGTGGCCCCCGGCTGGCCAGACTCCGAGGGACGCGGGACCCAGGGGAGGGGGGGTGGAAGGAGGATGGAGTCAGCGAGGTGAGCGAGGGCGTCCGGGCCTGGGGTGACCGGGGCTATGTTCGCTGGGCGCGGGAGGTGGGGTGGGGGCGGCAGACTCCACCCCGGAGATAACCCCCAGGAAGTCATGCGAAGCCCGGAGTTCACCGGGTGTGCTTCGAACGCGCCTCCCCGCCCTCCCCCGGCGGGCAGGAGCCGGCAGCGGCGGCCGTGGTTGCCGCCCGGCGCTTGCACAATCGCGATGCCGGGCGGGCGAGGTCCCCGAGTGCGGGCCCAGAAAAGCTGCCGGCGTCTGCCAGGGCCCCGGGGAGCCCGGGCGCCTCCCGGGGAGCCAGATACCCCCAGCCTGGACTGAAGTGATTTTTTTTTTTTTTTTGCCTTTTTTTTTTTGGAGGAAGTTTGGCTTTCTGCGCCTCCCAGGGTGGGGAGGATTTGAGTCTTACTGAAATGCACCAGAAGAGGAGACTTTCTTAACTTGAGCAAGAAGGGGAGTTTGTAGAATTTCCTTCCTGCTGTTTCATGTTTGGTTGTTTTGCAGATTAAATGAATTAATGCACGTAAAGCGGCAACAACGAAGCCTTGTCTATAGTCAACAGTCAATAAAAGTTAGTTGCTGTTGTTACTTCTTTAGGAAGTTAGGAAATGCGCCTTGAGAGCGTGGCTTGCACCAACGATGCTTGAATTCAGGCTGGGCCACCTCCCCTATGTCCACTGCCCGCCTCTGTTCTTCTACACCGACTACCTTGTGCAAAGGAGGGGCACACAGAGCTTGAAACCACCGCCCCCAGTACTCCCCCTCTCCCCCAAGGTGCGTCCTAGGCAGGTCCAGTGACAAACATACACAATTTCTAGANNN
|
pathogenic
| 314,940 |
A mutation at chromosome position 54173517 on chromosome 20 in gene CYP24A1 (cytochrome P450 family 24 subfamily A member 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Hypercalcemia,_infantile,_1', 'Inborn_genetic_diseases']
|
CCCGAATTGCATTCTTTTTTCCTTTGTTCTTTGTAGCTGTGACTTGAAGCTCCACCAATATCCCTATGTCCCCACGAGCCCCAGGAAAGCTGGCCCCAGCCTGCAGACCTCATTGATTTTGTTGTCCAGCTTCATCACTTCCCCTGGTTTCATTAGTTTCTTTTGAAAGGCACTCCGGACCCGCTGCCAGTCTTCCCCTTCCCTGTGAGAGAAGCAGGAATACATTTAGAGCACACTGAAAAGAAAAGAAGGAGATGCAGAAATACTCCAGCTGCAACTTCAGGAACCATAAAATCAAACAAACACTGAGAATCATGCCAAGAAATAGCCAGAGAATATTAGCATCAGAATATTTGGGATAAAATAGTGATCATCTTTTGACAATAGTTTGACAATAGGATGAAAAAGCACCTTTCCTCCTAGTCAAAGATTGCACCAAAAAGTTGAAGTCCAGATAATTTGGGTTCAGGGATTTTGAGGTGTCCTTGCAGGGAGTGGGGCTGGGAGGCCTGGGGACAATTCCTAGCGGTAAAAGGGGGCATGTGAACACCCCATCACCAGCAACTCAGATCTGTTTGAGGGAAGAATCTTGTCTTCTTTCAACTCATTGGTGTGGGCTTCATATTTACAAAATATCTCAGATTTAGAATTTTGCCATCGCCTCCAAATAATAACATACAGTCAGAGAGTCACTGGAGTAATAAAAAGCCTTTTGCGATCGTGCACTTGTAGGCACCTGCCCCATAGCAGACCATACAGCCTGTGAAGCACCGTGAATTAATAGGGTTTTTAATTCCAGTCATTATATCCTGGAAAATATAACGATTAGGCATTACAGTTTGGGGGTAAATAAAGGTGCTAACTTGTTAAATGCTAACAACTAAAAAGCAGAAGAATCACATCCCATAGTAGCATTTGTCGACCTAAAACACAACTTTGATATCCCTCCTTATTCCACCTTTACAAGTAGAAATAAGGCATGTCCCCCAATCCTCTGCAGAAAATGTCACTGTAAAAAGCCAAAGAGGCTAACTCCTCGCTTTTGAGCTTACAAGGTGTTTCAGGGAGTTTTAAGGGATAATTTTGTTTGTATAAGATGTTTGCCTGGTACGCTGACTTCAGAACCTCATCCTGCCCAAGAGTCTGAACACCACAGTTGGTACAACCCTGTTTTGGCGTTTCTTTGATGGGAGGGTGTGGCCCTGCCCTGTTGCCAGAGAGAACGCAGGTGCTGGGTGCACAGCACGGCTTTTCCGTGGACCGACTCTAATCTGTACAAGAGCTCAGGGTTGCGATGGCACGGGAGAGGGGCTTTGGTATCCGCCCTACGTAAGAAGCTTCCAACCCCAGGGAACTCTAACTCCGCCTCTTCACAATTTCCAGGCGCCGTCAGGCTCATCAGGTCTGGCCGCATGCCCAGGTCCCTCGGATTGGACTCACAGGATCAGCAGCCCGTAGCCTTCTTTGCGGTAGTCGCGATAGGCCTTCCACGGTTTGATCTCCAGCCGCTGCGGGTACGCGCTCTCGGTGCGGTACAGCGCTTCCAGCAGGCATGGCGAGCCCAGGTGCACCGACTCAAAGGAACCCAACTTCATGCGGAAAATCTTGCCATACTTCTTGTGGTACTCCACCTGCAGCCGGCCGGGCACAGCGCGGTGTCAGCGCGCATCCTCCGCCGTGCCCGAAGCGCTTTCCCTCCTCCCGCCTCCTTCCTCCTAGGGGACCGGGGACCCTCCCTGCCCAGACGCCGAAGCGCACCATGCGCCCGAGGCGCGCATGTCGGGGAGGGTTTGGAGCGCCACTGGGAGGGCGGAAGAGGGAGGAGAGAGTCAGGGGCGCGAAAAGGGGTTTACCAGGGTGTCGTGCTGTTTCTTGAGACCCCCTTTCCAGAGAATCTGCAGCAGGCTGCCCAGCAGTGGCCAGCTGGTGGGGCCCGGCAGGGCGGCCGCGTTCTGAGTCTCGCCACCAGCTGTCAGCGGGCAGACTGGCACCTCTCGCGGCTGAGGGGACGTGTACGCCGTAGATGTCACCAGTCTCGGGGGCTGCCTCGGACTGCGCAGCTGCTGCAGGAAGGCGGCAAGCGAGCGGCTCTTGCTGATGGGGGAGCTCATGGCAGCGGGGGACACCGGAGCGCGGGAAGGCAGGAGGATGGGGTGGGGCGAGGTTGGTACGAGGTGCTAGTGGGAGTCGGGGCTTAACGATTCTGGGAAAAGGAAGCAAAGAGGGCCAGCTGGTGTGATGGAGCGGGGTGAGGCGGGACAGGCAGCAGAAAGGACCTCGGCGAGGATGCTCGACGCTGCACCACGCGACAGCCTCAGAGCATTGGTGCCTCCTTGCACTGGCCGCAGGGGCTGGAAGAGGGTGGCCGGTGTCTGGGGACCTCTTGAAAAGGGAAAGCTGGGAGTCCTCCTGTTGGTCCGCAAGGCTGACCTCTAGGGTCTGGCTGGAGCCACGGGGAGGTGTCAAGGAGGGTAGATGAGATGCTGCTGGCGCTGCGTTTCCTCCTGTCCCTCTCCATGTTCCTATGCCCAGGGACCATGCATTTATGGAGACAGAGCATGCCCTGGGTGGCCAATGAGCACGCAGAGGAGGGCGGAGTGGCCCCCGGCTGGCCAGACTCCGAGGGACGCGGGACCCAGGGGAGGGGGGGTGGAAGGAGGATGGAGTCAGCGAGGTGAGCGAGGGCGTCCGGGCCTGGGGTGACCGGGGCTATGTTCGCTGGGCGCGGGAGGTGGGGTGGGGGCGGCAGACTCCACCCCGGAGATAACCCCCAGGAAGTCATGCGAAGCCCGGAGTTCACCGGGTGTGCTTCGAACGCGCCTCCCCGCCCTCCCCCGGCGGGCAGGAGCCGGCAGCGGCGGCCGTGGTTGCCGCCCGGCGCTTGCACAATCGCGATGCCGGGCGGGCGAGGTCCCCGAGTGCGGGCCCAGAAAAGCTGCCGGCGTCTGCCAGGGCCCCGGGGAGCCCGGGCGCCTCCCGGGGAGCCAGATACCCCCAGCCTGGACTGAAGTGATTTTTTTTTTTTTTTTGCCTTTTTTTTTTTGGAGGAAGTTTGGCTTTCTGCGCCTCCCAGGGTGGGGAGGATTTGAGTCTTACTGAAATGCACCAGAAGAGGAGACTTTCTTAACTTGAGCAAGAAGGGGAGTTTGTAGAATTTCCTTCCTGCTGTTTCATGTTTGGTTGTTTTGCAGATTAAATGAATTAATGCACGTAAAGCGGCAACAACGAAGCCTTGTCTATAGTCAACAGTCAATAAAAGTTAGTTGCTGTTGTTACTTCTTTAGGAAGTTAGGAAATGCGCCTTGAGAGCGTGGCTTGCACCAACGATGCTTGAATTCAGGCTGGGCCACCTCCCCTATGTCCACTGCCCGCCTCTGTTCTTCTACACCGACTACCTTGTGCAAAGGAGGGGCACACAGAGCTTGAAACCACCGCCCCCAGTACTCCCCCTCTCCCCCAAGGTGCGTCCTAGGCAGGTCCAGTGACAAACATACACAATTTCTAGAGTTACCGCGGCTGGCAAGAGTAGAACTCGCTTTGCTAATTCAGGAACGGAAGTTGGAGATTTTTGTTGATTGTTTTAAAGTGGCTCGAATCCTTTCAACCTGATCCAATACAAAACTACCACCAGCCAGGGAGGAGGGGAGGGACATTCTGTTTCCTCGCCCTGCTTTTCAATTACGTGTCTCAGTCATTTTTGCCCCAAGTGTTGGCAAATCCTTCCCTGGTAAATTCTTTTGTAAGCCTCTAGTTTGTTTCTTAAAAATCTTTTGCAGTCCAACTTAAGCTTTAACACCATCATTTCTGATTTGTCTGGAGGGGCTAATGACTGTTTATGTTAATAAAAATAATAGCTATTGATATATACTAAACTTTATGAATCTTGTACATATTTATATATACATTGTATGGTATATATGTTACAGCATACACTATAGATTATGTTATATGCAATACACACTAAATATACATAATATAGTATAGATTGCATACAGTATGTAGATTCCATATGTTATATAATATTCTCATGAAAGCTTTCTAGGGCTTATGATAAGTCAGGCACTGAGCTAGACATTTTACATCATTTTTTCCGTTT
|
CCCGAATTGCATTCTTTTTTCCTTTGTTCTTTGTAGCTGTGACTTGAAGCTCCACCAATATCCCTATGTCCCCACGAGCCCCAGGAAAGCTGGCCCCAGCCTGCAGACCTCATTGATTTTGTTGTCCAGCTTCATCACTTCCCCTGGTTTCATTAGTTTCTTTTGAAAGGCACTCCGGACCCGCTGCCAGTCTTCCCCTTCCCTGTGAGAGAAGCAGGAATACATTTAGAGCACACTGAAAAGAAAAGAAGGAGATGCAGAAATACTCCAGCTGCAACTTCAGGAACCATAAAATCAAACAAACACTGAGAATCATGCCAAGAAATAGCCAGAGAATATTAGCATCAGAATATTTGGGATAAAATAGTGATCATCTTTTGACAATAGTTTGACAATAGGATGAAAAAGCACCTTTCCTCCTAGTCAAAGATTGCACCAAAAAGTTGAAGTCCAGATAATTTGGGTTCAGGGATTTTGAGGTGTCCTTGCAGGGAGTGGGGCTGGGAGGCCTGGGGACAATTCCTAGCGGTAAAAGGGGGCATGTGAACACCCCATCACCAGCAACTCAGATCTGTTTGAGGGAAGAATCTTGTCTTCTTTCAACTCATTGGTGTGGGCTTCATATTTACAAAATATCTCAGATTTAGAATTTTGCCATCGCCTCCAAATAATAACATACAGTCAGAGAGTCACTGGAGTAATAAAAAGCCTTTTGCGATCGTGCACTTGTAGGCACCTGCCCCATAGCAGACCATACAGCCTGTGAAGCACCGTGAATTAATAGGGTTTTTAATTCCAGTCATTATATCCTGGAAAATATAACGATTAGGCATTACAGTTTGGGGGTAAATAAAGGTGCTAACTTGTTAAATGCTAACAACTAAAAAGCAGAAGAATCACATCCCATAGTAGCATTTGTCGACCTAAAACACAACTTTGATATCCCTCCTTATTCCACCTTTACAAGTAGAAATAAGGCATGTCCCCCAATCCTCTGCAGAAAATGTCACTGTAAAAAGCCAAAGAGGCTAACTCCTCGCTTTTGAGCTTACAAGGTGTTTCAGGGAGTTTTAAGGGATAATTTTGTTTGTATAAGATGTTTGCCTGGTACGCTGACTTCAGAACCTCATCCTGCCCAAGAGTCTGAACACCACAGTTGGTACAACCCTGTTTTGGCGTTTCTTTGATGGGAGGGTGTGGCCCTGCCCTGTTGCCAGAGAGAACGCAGGTGCTGGGTGCACAGCACGGCTTTTCCGTGGACCGACTCTAATCTGTACAAGAGCTCAGGGTTGCGATGGCACGGGAGAGGGGCTTTGGTATCCGCCCTACGTAAGAAGCTTCCAACCCCAGGGAACTCTAACTCCGCCTCTTCACAATTTCCAGGCGCCGTCAGGCTCATCAGGTCTGGCCGCATGCCCAGGTCCCTCGGATTGGACTCACAGGATCAGCAGCCCGTAGCCTTCTTTGCGGTAGTCGCGATAGGCCTTCCACGGTTTGATCTCCAGCCGCTGCGGGTACGCGCTCTCGGTGCGGTACAGCGCTTCCAGCAGGCATGGCGAGCCCAGGTGCACCGACTCAAAGGAACCCAACTTCATGCGGAAAATCTTGCCATACTTCTTGTGGTACTCCACCTGCAGCCGGCCGGGCACAGCGCGGTGTCAGCGCGCATCCTCCGCCGTGCCCGAAGCGCTTTCCCTCCTCCCGCCTCCTTCCTCCTAGGGGACCGGGGACCCTCCCTGCCCAGACGCCGAAGCGCACCATGCGCCCGAGGCGCGCATGTCGGGGAGGGTTTGGAGCGCCACTGGGAGGGCGGAAGAGGGAGGAGAGAGTCAGGGGCGCGAAAAGGGGTTTACCAGGGTGTCGTGCTGTTTCTTGAGACCCCCTTTCCAGAGAATCTGCAGCAGGCTGCCCAGCAGTGGCCAGCTGGTGGGGCCCGGCAGGGCGGCCGCGTTCTGAGTCTCGCCACCAGCTGTCAGCGGGCAGACTGGCACCTCTCGCGGCTGAGGGGACGTGTACGCCGTAGATGTCACCAGTCTCGGGGGCTGCCTCGACTGCGCAGCTGCTGCAGGAAGGCGGCAAGCGAGCGGCTCTTGCTGATGGGGGAGCTCATGGCAGCGGGGGACACCGGAGCGCGGGAAGGCAGGAGGATGGGGTGGGGCGAGGTTGGTACGAGGTGCTAGTGGGAGTCGGGGCTTAACGATTCTGGGAAAAGGAAGCAAAGAGGGCCAGCTGGTGTGATGGAGCGGGGTGAGGCGGGACAGGCAGCAGAAAGGACCTCGGCGAGGATGCTCGACGCTGCACCACGCGACAGCCTCAGAGCATTGGTGCCTCCTTGCACTGGCCGCAGGGGCTGGAAGAGGGTGGCCGGTGTCTGGGGACCTCTTGAAAAGGGAAAGCTGGGAGTCCTCCTGTTGGTCCGCAAGGCTGACCTCTAGGGTCTGGCTGGAGCCACGGGGAGGTGTCAAGGAGGGTAGATGAGATGCTGCTGGCGCTGCGTTTCCTCCTGTCCCTCTCCATGTTCCTATGCCCAGGGACCATGCATTTATGGAGACAGAGCATGCCCTGGGTGGCCAATGAGCACGCAGAGGAGGGCGGAGTGGCCCCCGGCTGGCCAGACTCCGAGGGACGCGGGACCCAGGGGAGGGGGGGTGGAAGGAGGATGGAGTCAGCGAGGTGAGCGAGGGCGTCCGGGCCTGGGGTGACCGGGGCTATGTTCGCTGGGCGCGGGAGGTGGGGTGGGGGCGGCAGACTCCACCCCGGAGATAACCCCCAGGAAGTCATGCGAAGCCCGGAGTTCACCGGGTGTGCTTCGAACGCGCCTCCCCGCCCTCCCCCGGCGGGCAGGAGCCGGCAGCGGCGGCCGTGGTTGCCGCCCGGCGCTTGCACAATCGCGATGCCGGGCGGGCGAGGTCCCCGAGTGCGGGCCCAGAAAAGCTGCCGGCGTCTGCCAGGGCCCCGGGGAGCCCGGGCGCCTCCCGGGGAGCCAGATACCCCCAGCCTGGACTGAAGTGATTTTTTTTTTTTTTTTGCCTTTTTTTTTTTGGAGGAAGTTTGGCTTTCTGCGCCTCCCAGGGTGGGGAGGATTTGAGTCTTACTGAAATGCACCAGAAGAGGAGACTTTCTTAACTTGAGCAAGAAGGGGAGTTTGTAGAATTTCCTTCCTGCTGTTTCATGTTTGGTTGTTTTGCAGATTAAATGAATTAATGCACGTAAAGCGGCAACAACGAAGCCTTGTCTATAGTCAACAGTCAATAAAAGTTAGTTGCTGTTGTTACTTCTTTAGGAAGTTAGGAAATGCGCCTTGAGAGCGTGGCTTGCACCAACGATGCTTGAATTCAGGCTGGGCCACCTCCCCTATGTCCACTGCCCGCCTCTGTTCTTCTACACCGACTACCTTGTGCAAAGGAGGGGCACACAGAGCTTGAAACCACCGCCCCCAGTACTCCCCCTCTCCCCCAAGGTGCGTCCTAGGCAGGTCCAGTGACAAACATACACAATTTCTAGAGTTACCGCGGCTGGCAAGAGTAGAACTCGCTTTGCTAATTCAGGAACGGAAGTTGGAGATTTTTGTTGATTGTTTTAAAGTGGCTCGAATCCTTTCAACCTGATCCAATACAAAACTACCACCAGCCAGGGAGGAGGGGAGGGACATTCTGTTTCCTCGCCCTGCTTTTCAATTACGTGTCTCAGTCATTTTTGCCCCAAGTGTTGGCAAATCCTTCCCTGGTAAATTCTTTTGTAAGCCTCTAGTTTGTTTCTTAAAAATCTTTTGCAGTCCAACTTAAGCTTTAACACCATCATTTCTGATTTGTCTGGAGGGGCTAATGACTGTTTATGTTAATAAAAATAATAGCTATTGATATATACTAAACTTTATGAATCTTGTACATATTTATATATACATTGTATGGTATATATGTTACAGCATACACTATAGATTATGTTATATGCAATACACACTAAATATACATAATATAGTATAGATTGCATACAGTATGTAGATTCCATATGTTATATAATATTCTCATGAAAGCTTTCTAGGGCTTATGATAAGTCAGGCACTGAGCTAGACATTTTACATCATTTTTTCCGTTTN
|
pathogenic
| 314,951 |
Determine whether the variant at chromosome 20, position 58389302, in gene VAPB is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
benign
|
GCAAGCAAGCCAAAATATCTGTCAAGAACAAGGGCAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGCGGCTGAAGCAGGAGGATCACTTGAGCCCAGGAGTTTGAAACCAGCCTGGGCAACATAGTGAGATTTTACAGAAAATAAAAAAATTAGCTGGGCGTGGTGGTGCATGCTTTTAGTCCCAGCTACACCGGAGTCTGAGGTGGGAGGATTGTTTCAGCCTGGGAGATACAGGTTGCAGTGAGCCACGATCATGCCACTGCACTCCAGCATGGGCAACAGAGCAAGACCTCATCTCCAAATAAATAAATAAATAAAATAAAAACAACAAAAGGCAAAAATGAATCCATTTGCAGATGAGCAGAAACTGAGAGGATTTGCACCAACGAAGCTACAAAAAAATAAAATTTAAAGGATTTACCTCAGGCAAAAGGAGAGTGATCCTGTTGGTGAAAGCTGAGATGCAAGAAGAAAAGGTGGATAAAAATGGTAATTGTGTGGCTGAATCTAAACTAATGTTGACTGAATAAAACAATTTAGTAATGTCTCTTGGGGTTACAGTGGCAAAGGTTAAACTTAACATACACTACATTAAGGTGTATAATTTAGAGGATGGGTGATTAAAGTACTCCAAAGTCTTTATATTTTAAGGAAACAGGGTAAAGACATTTTTACAAATATTTAAAGATATTGGACTTTCACAAGGTAAGTATGCATGCCCAAAAGTTTGAAGTAACCACTAAAACTTAGAAATAGAGTATACAGGTGAAGAAAATCAGAATGAGAATAAAAATAAACCCTAAAGAAGAAAGGAAAGGGGAAAAAAACCAGGCAGGACAAATAGAAATAACAAAATACAATGGTAGAAATAATTCCAGATATATCAGTAAATATAATAAATGTAAATGGACTAAATGCTCCAGTTAAAATACAAAGACTATTCTTTTAAAAAACCTTTTTATCATGAAAAATTTCAAGTATACAGCAAAGTGGGAGAAACAGTACAAGAAAACCATATACCTGCGATGTAGAGTCAGCCATTGCTAGCAATTTGCCACATTTGTCTCACCTATATGGGTATGTATAGGAGACTATTAAGAACACCTATTTAACTTCCATAGTAAACATAATATAATGAAATACAATTTAAACGGTAATCATGATGTAGAGTATCCACTTTTGAGGTCAAGCAGATCTGGATTCTCCAGCAATTTTTAATTATTTAACTTACGTGTGTGGTTATTTATTCAAAAGATGTCTCTTCACTAGGCTATAGTAAAAGGATTGGAATCAGGTTCGCTTTTCTGATCATTGTATTTCTAAATATTTGTTGCATAAACAAATAGAATTTACTAGTAAAGAATTCAGCACAGTGCCAGTTGCATAGTAAACATTTAACGTAGAGTAGCTTGTATTTATTGTAGTTGCTGTTGTTATTGGAAGCATTCAGTAGAGTGATACAAAATAAATAAGCAATAATTGGTAGTTTATTATATTTATAATTATTATTTACAAGACGTCACAGTGCCTAGCCCATATCACTCACCCATAAACATTATACTTATACTAAGTACTTTCACTATTATTCAAAGTCTCTAACAGTGCCTGGCACTACATAAGCAAGAGAAAAGTGGAAGTTTATTCTAATTGTTATTATTGAATAAAGCACTTAACACGAAGCTGGCCCCCAGCGGGCCCTTAATAGTTTCCGCGGTGGCTGTCGTAGCTGGACTACAGACCCCGCCTCCTGAGCGGCCCGAAGCCCCGCCCCTTACTGCCCCGCAGTCCCGCCCCCGTGGCTTGTGCCGCGCCTGCGCACTGTCCCGGAAGGGGCTCTACGCGCGCAGCTTTAGTCCCCGCCCCTGGAGCCGGCGGCGCAGGGCGCAGCTTCCCGCCGCCAGAGCGGGCCAGCCTGCTGCGTGCGTGCGTGTGTACGACTCTGCGTGCGTGCGTGCGTGCGTGCGTGCCGTCAGCTCGCCGGGCACCGCGGCCTCGCCCTCGCCCTCCGCCCCTGCGCCTGCACCGCGTAGACCGACCCCCCCCCAGCGCGCCCACCCGGTAGAGGACCCCCGCCCGTGCCCCGACCGGTCCCCGCCTTTTTGTAAAACTTAAAGCGGGCGCAGCATTAACGCTTCCCGCCCCGGTGACCTCTCAGGGGTCTCCCCGCCAAAGGTGCTCCGCCGCTAAGGAACATGGCGAAGGTGGAGCAGGTCCTGAGCCTCGAGCCGCAGCACGAGCTCAAATTCCGAGGTAAGCCCCAGAGGCCGCCACCTTCCTGCCCGCGGCCTCCGCCCCAGTGCTGGAAGGACGGAGCCCGGCGCGGCGGGTGACGTCGGCCCTCGTCCCCACCCCGACGGCGCTGTCGCGGGGGGCGGCGAGGCCGGGCCGGGCCTTGGCGCTCGCCGCGCTCCCCAGAACTGCCCGGAGTGGCCGGGACCCGAGAGGGCTGGTGCGGGAGCCGGGGCCTGCGCCTCCTCCCCGACCCCCAGCCTCCTGGGACTTGCCTTCGAGGCACTTGTCACTTTGTAACTTACCAGTTTGTGATCCTCTCTAGTGTGAGCCTCCGCCGCTGCCTTTGCCTAGAAGTTTCTTCCCCTGCTCCGTGACAGTGTTGACCTCAGGGCTTAGTTGAGGTGTCAGCTGCTCAGAGAGGCCTGCTGTGACCACCCAGCCACCGTGCACACCTGCTGTCATTCCCTATTCCGTCACTGTTTCGTGGTCAGCACGGCACTTTTCATACCCAAAATCACTGTTTCAATACTAGAAGGGAAACTGCATGAGGACAGGCTCTTGTCAGTTCGCTGCTGTGTACCCAGCACACATTATACGCCTAGTAAATAAATACCTGTTGAACCAACAGATGAACATGTTGAACCAACAAATGAACCTCCTCAGGACTTCTGATGGGATTGGGCCCATTTTCCTTTCACTGCGTCCCTCATGCTGTCTCCTGGTTGCGGTGCAAGGAGGCTGCCACGGTGCTGGGATCCTTTTTCTCCGCAGAGCTGTCTGGAGCAACACCTGCGGCGATGGGAAGCCATGACCCTGGTTTCTCCCAGATACTATTACCTCTGTAATTTGTGCCTTTATGTTTTCTATGTTGTTACTTTTGTTTTTTTTTTTTTTTTCCTACCTTCACCAGGGCCACGAGGTAAAAGTTCTTGTCTGACATGCTCATTCTTTCTTTTTGCGTGTATCCAGTGATGTGGGAGGCTCTGGGGAGGTGATGGATGCACAAGACAGATAAGGCCTCTGCTCTCACAGAGCTTACCTTCCGACGAGGACAGACAAACCAACACACAAGATCATTGCAGATAGTGCTAAGTGCTGTGTAGGAAATGGAACAGTCTGACTCCATGGAAGCGTACTTTAGATTGGAAGGCCGGGTCTCCACTATATCGCTAGCACCGGACTCACAGTAGATGCTCAGTTGGTATTTATGAATGAATGAATGGCCAGAGGCTCTCCAGTTTATATGTCCTATTGGGAAGTAGTGTAGGGTAACTTACCCAAAGTTACCCAGTTGGCAAATGGTACATTTGAACCCAGACTTCAGAGTTCACGCTCTTAACCGTTTTGCTGTCTGATCGCTGGGAAATACTCCAGAACGGTGGCTGTCACTTTGCCTTCCAAGTTAACAATGTGAAATAACTCTGAATTTACAGAGAACCAAAGGCTTTCCAATTAAAATGAAAAAACCGAAAAACCCCACCAAACCTACCGTGGATTGTAATTCCAGGATAGTACTTGAGCTTTCATGATGTTCTCATGGCCTTCTGGGGATGCCAGATTGGGAAAGAAGTCCAGGTAGCTAAAGTGAAAATAGTGAGCCTTAGTTTCCACTTGAGTTGTCTGAAGTTCTTTCTCTATCTGGGAGGCCTGGCTTGGCTTCTCCTGATAATTGGTGGGTTCATTCGGTTAGTCCACAAACATTTACTGAGTACCTGATCTGTGTGTCAGATACCCAGAGAAGCCAAGTTATATCAGCTGTACTCTCCTATTTTCCCTCAACCTCCTCCCAGTACTTTAGGGAAGGGGGCAGATGAGAATAACAGCCAGGACAGGACAATGATGTAGGGTAG
|
GCAAGCAAGCCAAAATATCTGTCAAGAACAAGGGCAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGCGGCTGAAGCAGGAGGATCACTTGAGCCCAGGAGTTTGAAACCAGCCTGGGCAACATAGTGAGATTTTACAGAAAATAAAAAAATTAGCTGGGCGTGGTGGTGCATGCTTTTAGTCCCAGCTACACCGGAGTCTGAGGTGGGAGGATTGTTTCAGCCTGGGAGATACAGGTTGCAGTGAGCCACGATCATGCCACTGCACTCCAGCATGGGCAACAGAGCAAGACCTCATCTCCAAATAAATAAATAAATAAAATAAAAACAACAAAAGGCAAAAATGAATCCATTTGCAGATGAGCAGAAACTGAGAGGATTTGCACCAACGAAGCTACAAAAAAATAAAATTTAAAGGATTTACCTCAGGCAAAAGGAGAGTGATCCTGTTGGTGAAAGCTGAGATGCAAGAAGAAAAGGTGGATAAAAATGGTAATTGTGTGGCTGAATCTAAACTAATGTTGACTGAATAAAACAATTTAGTAATGTCTCTTGGGGTTACAGTGGCAAAGGTTAAACTTAACATACACTACATTAAGGTGTATAATTTAGAGGATGGGTGATTAAAGTACTCCAAAGTCTTTATATTTTAAGGAAACAGGGTAAAGACATTTTTACAAATATTTAAAGATATTGGACTTTCACAAGGTAAGTATGCATGCCCAAAAGTTTGAAGTAACCACTAAAACTTAGAAATAGAGTATACAGGTGAAGAAAATCAGAATGAGAATAAAAATAAACCCTAAAGAAGAAAGGAAAGGGGAAAAAAACCAGGCAGGACAAATAGAAATAACAAAATACAATGGTAGAAATAATTCCAGATATATCAGTAAATATAATAAATGTAAATGGACTAAATGCTCCAGTTAAAATACAAAGACTATTCTTTTAAAAAACCTTTTTATCATGAAAAATTTCAAGTATACAGCAAAGTGGGAGAAACAGTACAAGAAAACCATATACCTGCGATGTAGAGTCAGCCATTGCTAGCAATTTGCCACATTTGTCTCACCTATATGGGTATGTATAGGAGACTATTAAGAACACCTATTTAACTTCCATAGTAAACATAATATAATGAAATACAATTTAAACGGTAATCATGATGTAGAGTATCCACTTTTGAGGTCAAGCAGATCTGGATTCTCCAGCAATTTTTAATTATTTAACTTACGTGTGTGGTTATTTATTCAAAAGATGTCTCTTCACTAGGCTATAGTAAAAGGATTGGAATCAGGTTCGCTTTTCTGATCATTGTATTTCTAAATATTTGTTGCATAAACAAATAGAATTTACTAGTAAAGAATTCAGCACAGTGCCAGTTGCATAGTAAACATTTAACGTAGAGTAGCTTGTATTTATTGTAGTTGCTGTTGTTATTGGAAGCATTCAGTAGAGTGATACAAAATAAATAAGCAATAATTGGTAGTTTATTATATTTATAATTATTATTTACAAGACGTCACAGTGCCTAGCCCATATCACTCACCCATAAACATTATACTTATACTAAGTACTTTCACTATTATTCAAAGTCTCTAACAGTGCCTGGCACTACATAAGCAAGAGAAAAGTGGAAGTTTATTCTAATTGTTATTATTGAATAAAGCACTTAACACGAAGCTGGCCCCCAGCGGGCCCTTAATAGTTTCCGCGGTGGCTGTCGTAGCTGGACTACAGACCCCGCCTCCTGAGCGGCCCGAAGCCCCGCCCCTTACTGCCCCGCAGTCCCGCCCCCGTGGCTTGTGCCGCGCCTGCGCACTGTCCCGGAAGGGGCTCTACGCGCGCAGCTTTAGTCCCCGCCCCTGGAGCCGGCGGCGCAGGGCGCAGCTTCCCGCCGCCAGAGCGGGCCAGCCTGCTGCGTGCGTGCGTGTGTACGACTCTGCGTGCGTGCGTGCGTGCGTGCGTGCCGTCAGCTCGCCGGGCACCGCGGCCTCGCCCTCGCCCTCCGCCCCTGCGCCTGCACCGCGTAGACCGACCCCCCCCCCAGCGCGCCCACCCGGTAGAGGACCCCCGCCCGTGCCCCGACCGGTCCCCGCCTTTTTGTAAAACTTAAAGCGGGCGCAGCATTAACGCTTCCCGCCCCGGTGACCTCTCAGGGGTCTCCCCGCCAAAGGTGCTCCGCCGCTAAGGAACATGGCGAAGGTGGAGCAGGTCCTGAGCCTCGAGCCGCAGCACGAGCTCAAATTCCGAGGTAAGCCCCAGAGGCCGCCACCTTCCTGCCCGCGGCCTCCGCCCCAGTGCTGGAAGGACGGAGCCCGGCGCGGCGGGTGACGTCGGCCCTCGTCCCCACCCCGACGGCGCTGTCGCGGGGGGCGGCGAGGCCGGGCCGGGCCTTGGCGCTCGCCGCGCTCCCCAGAACTGCCCGGAGTGGCCGGGACCCGAGAGGGCTGGTGCGGGAGCCGGGGCCTGCGCCTCCTCCCCGACCCCCAGCCTCCTGGGACTTGCCTTCGAGGCACTTGTCACTTTGTAACTTACCAGTTTGTGATCCTCTCTAGTGTGAGCCTCCGCCGCTGCCTTTGCCTAGAAGTTTCTTCCCCTGCTCCGTGACAGTGTTGACCTCAGGGCTTAGTTGAGGTGTCAGCTGCTCAGAGAGGCCTGCTGTGACCACCCAGCCACCGTGCACACCTGCTGTCATTCCCTATTCCGTCACTGTTTCGTGGTCAGCACGGCACTTTTCATACCCAAAATCACTGTTTCAATACTAGAAGGGAAACTGCATGAGGACAGGCTCTTGTCAGTTCGCTGCTGTGTACCCAGCACACATTATACGCCTAGTAAATAAATACCTGTTGAACCAACAGATGAACATGTTGAACCAACAAATGAACCTCCTCAGGACTTCTGATGGGATTGGGCCCATTTTCCTTTCACTGCGTCCCTCATGCTGTCTCCTGGTTGCGGTGCAAGGAGGCTGCCACGGTGCTGGGATCCTTTTTCTCCGCAGAGCTGTCTGGAGCAACACCTGCGGCGATGGGAAGCCATGACCCTGGTTTCTCCCAGATACTATTACCTCTGTAATTTGTGCCTTTATGTTTTCTATGTTGTTACTTTTGTTTTTTTTTTTTTTTTCCTACCTTCACCAGGGCCACGAGGTAAAAGTTCTTGTCTGACATGCTCATTCTTTCTTTTTGCGTGTATCCAGTGATGTGGGAGGCTCTGGGGAGGTGATGGATGCACAAGACAGATAAGGCCTCTGCTCTCACAGAGCTTACCTTCCGACGAGGACAGACAAACCAACACACAAGATCATTGCAGATAGTGCTAAGTGCTGTGTAGGAAATGGAACAGTCTGACTCCATGGAAGCGTACTTTAGATTGGAAGGCCGGGTCTCCACTATATCGCTAGCACCGGACTCACAGTAGATGCTCAGTTGGTATTTATGAATGAATGAATGGCCAGAGGCTCTCCAGTTTATATGTCCTATTGGGAAGTAGTGTAGGGTAACTTACCCAAAGTTACCCAGTTGGCAAATGGTACATTTGAACCCAGACTTCAGAGTTCACGCTCTTAACCGTTTTGCTGTCTGATCGCTGGGAAATACTCCAGAACGGTGGCTGTCACTTTGCCTTCCAAGTTAACAATGTGAAATAACTCTGAATTTACAGAGAACCAAAGGCTTTCCAATTAAAATGAAAAAACCGAAAAACCCCACCAAACCTACCGTGGATTGTAATTCCAGGATAGTACTTGAGCTTTCATGATGTTCTCATGGCCTTCTGGGGATGCCAGATTGGGAAAGAAGTCCAGGTAGCTAAAGTGAAAATAGTGAGCCTTAGTTTCCACTTGAGTTGTCTGAAGTTCTTTCTCTATCTGGGAGGCCTGGCTTGGCTTCTCCTGATAATTGGTGGGTTCATTCGGTTAGTCCACAAACATTTACTGAGTACCTGATCTGTGTGTCAGATACCCAGAGAAGCCAAGTTATATCAGCTGTACTCTCCTATTTTCCCTCAACCTCCTCCCAGTACTTTAGGGAAGGGGGCAGATGAGAATAACAGCCAGGACAGGACAATGATGTAGGGTA
|
benign
| 315,018 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 58676941, gene STX16. What disease(s) is it linked to if pathogenic?
|
benign
|
CAGATAAAAGGAAAAGCTTTCTCTGCGGGAGTGAGCAAATCTAGTGGGAACTAAAAATTTTGTTTTAGGTTCTACTTTATAAATCATTTTGAGAGGTTTTACAGTATATTATTTAGTATTGGCTTCCCTGGTGTTCTGGGTTACTTATTAGAAAAGTCAGCGTGCTCCATCTTCCCTCCAGCCACAAGGCTGTAGGCAGCACGCGCGTGCTCGGCAGTCGGCTAGTCTAAGGGTGATTGAGCGTCGGGAGCTGCTCCCCATGACCGGACTCTCGGTGCTGTCCCCGTGCCTGATGTTTCCTCCTGGTGGATGAGGGGCTCCTCCAGGTGGGCGGGCAGGCTCACTTAGGAAACAAGCCCACCGCGGGGGATGGAGCAGGAGAGATTGCCATTCTCGCCAGGGCTGCCTTCCCGCTGTCTCCTCCTCCCTCCTGTGCCATAGCAAGGTCTGGAAGAGGCAGCGCATGCTCTCCCTGGACGTGCCTCCCGGCGCCCTCTGAACTCTGCTGTCCTCTGGCTCTCCTTTCTCAGTGCTCTGCGTCTTTCGCCAGCCAGGTGGGGCCCTTTGGCATTTCTCTAGCAGGCATGATGGAGTTCCCGCTCCTGCCGAGCTTCCAGGATGCGGTGTTAAGGTGAAGAGATGTGCAGGGTGCAGCCTCGTCCCCAGATTGAGCTTGGAGGGCTCCTTTGCTGTATCGTTAGCGGCACTGGGAGGACGCGCCTCAGAGGGATCTTTCTGCATATGACATCCATGGGGCACACGTGTCTGTTTTTATTTCAAAGGATGAGTTTTTGTTTCCAAATTTAGGGGAGGTCGAAATGGGGCCTCTTCCGGGTGTCTGTTGCCTACCTGCCAGGTACGGTCCTCCAGCCCGTTGTTTCCTTCCGCGGTGAAGGAACTGTGCATTCGCTCCAGGAACACGGACCGGGAACAGGCGACCCGTGCTGCAGGGGCACTTGCCACGGCCTGCAGGAGGAAAAGCCGGGAGAAGCAGGCCCAGCTGCACCCGGAAGCATGAGCTTTCACTTCCCTGTCAGGCTTTGTCTTAGTAGTAGGTTTCCAACAAATCCATTTCCACGTCCAGGGTAAATAAGCAGCACCAGGATCATGGGGCTCTTCCACTCCTGGTGATTGAATTCCGTGGGATTGATTGGAGGGATTACAATCATGTAGCCTGTAGCAGAGACCTCAGTCACTGTGCAGAGAGATCTGGAAGCCTCATTCTGGAAACGAGTGGGACTTGATTTGGGATTTTGGGGAAAATGACGGCCTTTTTTCCCTCCTCTTTTTGTAGGCAGAACAGTATCAAAAGAAGAATCGGAAGATGCTTGTGATTTTAATATTATTTGTCATCATCATTGTGCTCATTGTTGTCCTCGTTGGCGTGAAGTCTCGATAAGTGGCATTGGGTTTTCGTGTGTGCCGCGCGTGTGGATCTCCCGGGTGTGAGGGGCTTGGCCTGCGCCCCGCCAGCTGCCCGCAGAGGTGCAGCCTCGAGGAATCTGAGGGCGTCGGGGCAGCGAACCTTTGCATCCACGGACTCCTCCTTCCCTAGTCCTGCTCAAGCGGTCCGGGGAATGGGTTTTTGTTTTTCCTTCATTGTTGAGAATTTAAGGACCTTTGATACTGCTGCACAATAGAGATTGAGTTCTGGGATCAGTTATAATATATATTTTTTTTAGAAAGAGAAAATGAGCTGAGAGTTTACAGGCACTGCAGAAGCTGTTCAGTATTATATGTGTATATGCTATTTTTTTAGCAGCCATGTCTGAGCAGAATGTTAACATAATTTTTGGAAAAATTTTCTTTAAACCATCTGGTTTTTAAGAAATTTGGTACCAAAAATTGATGAGTAGAGGCAAAAATGCCCCTTCATCTTTCTCTATATATTTTCCAGTTGAAAACAAACTAAGAAGTCCTTTAAGAATTTATAATCCGTTCCCCATTAACTTAATTTAGCTTTTCCATCACTGTTAATGATCAGAGTAACAAAGTGTGAAAAATAAGAAACCATCATTGATGTTAATTAACACATTTAGATGGGCCAGTTAAAACAGCTTCATAAGTTTTAAATTAATTGTAAATGGAATATTCCTCATTTAAAATTTTTGCACTGCATTTTCTACTGTAAACCAAAAGAGGTTACTAAGCAAAACCACCTAAATTTAAGTTGGTGATTTAAATGAATCTCACATTAAAAGAAAGCTTGACAGTGTTATGAAAGCCACCAGACTCAGCCAGTGTGTCCCCATGGGTATCCCCAGCCATCCTTGCTCAATCCATTACTTATATACTAACTACATAATGACCTGTTCAAACCAGACTCTATTTAATGAACTGTGAATTTACACAGAGGCCATTTTAAATGGGTCACCCCATTTAGGATTAGTGGATCTCAAATTATTAACCAAACATCACTCCATTTCAAAGTAAAATATTCCACCAGCGATTTGATTTATTGGCTCTTCCATTGCCACTGAGCAATGCCCAGGAAGCAGGCACATTGCCAAGGACTGGGGGCATCTTGACTAGGAAGCTCCTCGTTTGTGTGAGCGTGGGTCAGACCGCCAAAGTAGGACTTCATCGTTTACCTACCTATTATCAATATGGTGCTTGAATATATTCCTATAACTGTAGAACAGTGTGGAAAGTGATGGTAACTTTGAAGTTGTTCATGTTTTATTGGCTTTGTTTTAATTGACACTAGTAGAGTTTTAATGGTCTTTGTGTAAATTTTAATGGCTTTTCCATTGTTTTTGCTTCTCTTAAAAAGTTTAAGAAGAATATGACCTCATTAAATGTGCTGTTTTATTTGGACCAGTCACACAAAATGTCTCTCTAGAGTTGACTTTAAAGTTGTTTACAGAAATTTAAACTCAATTCCAGAGATTGAAGTTGTCCAAACAGCTCATGGGCTTAGTGTCCAAACCCCTGCCCAGCCTTCCCTTTCCAAGTTGGTGCCACCTCCAGGTAGCCATTGGTGGTTTTCCTATTACTGATGTGGCTGTGGAATGATAAGGTCCTAGAGGGGCCCTGGCATTTCAGGAAGCGGACCTGGTATTCCCTGACAAACATTGCTTAGGAAAGAGGGCCGGAGAATAAGAAGCCAGCACCTCATCAGTCAGCCCTGCAATGTGAGACTTCCGTAGCTGTTGAGAGTCACTGCAGGTGTTCTTTCATCCCATCTGATTTTAACCCATGGTTGAGACGTTCCAAGTTAGATCTGCTGCTCTTAGGTGTGGGGCTGTCCACATTAGGGAACTTGCCTCAAAAACAGTCCACAGTGGCAATACCGGACTTCTGTTCAAGCTTTTTAAAGTGCTGAGCCTTACAAACCCCTGAAGGAAAGTGACCCTTTAAGAGAGGATCATCTTTTTTTATATTTATTTTCACCAAATAGGGTGATGAGGGTTGGTTTTTGTTCCCTCAACCCATTTGGGTAAAATAACGGATCTGATTAGAAACTGTTTTAAGGAGGGGCTGGGCTCGGTGGCTCACGCCTGTAATCCCAGACTTTGAGAGGCCAAGGCGGTCACGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCGTCTCTACAAAAAATACAAAAATTAGCCGGGTGGGACACGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAATTGTTTTAGCGCTGGGTTTCCCAAGGTGGGAGAGACAGACCCAGCCTGGAGCTGGCCCCTGGCCTGTGTGCTGACTTCTTGGGGTCCTCAAACCACTGTATTTTTCTGTTGAGCCTGTACTTGGGGAGAGATCAGTAGCATTTGAGGAAGTAAGAGAAAAGAATCATGGTACCTCAGGGTTTCTTTCCCTTTACTCGCTGGCAGCCATTGTCTGTGGGCACCTCATGTTTTTCCACACTCTACTGGGCCGTGGAGGTAACGATCACCCAGGCCAGTCTCCTCTGCCTGGGATGCGCCCTCTGAGAGGAGGCCTAGCAGGGCAGGCTCCCTC
|
CAGATAAAAGGAAAAGCTTTCTCTGCGGGAGTGAGCAAATCTAGTGGGAACTAAAAATTTTGTTTTAGGTTCTACTTTATAAATCATTTTGAGAGGTTTTACAGTATATTATTTAGTATTGGCTTCCCTGGTGTTCTGGGTTACTTATTAGAAAAGTCAGCGTGCTCCATCTTCCCTCCAGCCACAAGGCTGTAGGCAGCACGCGCGTGCTCGGCAGTCGGCTAGTCTAAGGGTGATTGAGCGTCGGGAGCTGCTCCCCATGACCGGACTCTCGGTGCTGTCCCCGTGCCTGATGTTTCCTCCTGGTGGATGAGGGGCTCCTCCAGGTGGGCGGGCAGGCTCACTTAGGAAACAAGCCCACCGCGGGGGATGGAGCAGGAGAGATTGCCATTCTCGCCAGGGCTGCCTTCCCGCTGTCTCCTCCTCCCTCCTGTGCCATAGCAAGGTCTGGAAGAGGCAGCGCATGCTCTCCCTGGACGTGCCTCCCGGCGCCCTCTGAACTCTGCTGTCCTCTGGCTCTCCTTTCTCAGTGCTCTGCGTCTTTCGCCAGCCAGGTGGGGCCCTTTGGCATTTCTCTAGCAGGCATGATGGAGTTCCCGCTCCTGCCGAGCTTCCAGGATGCGGTGTTAAGGTGAAGAGATGTGCAGGGTGCAGCCTCGTCCCCAGATTGAGCTTGGAGGGCTCCTTTGCTGTATCGTTAGCGGCACTGGGAGGACGCGCCTCAGAGGGATCTTTCTGCATATGACATCCATGGGGCACACGTGTCTGTTTTTATTTCAAAGGATGAGTTTTTGTTTCCAAATTTAGGGGAGGTCGAAATGGGGCCTCTTCCGGGTGTCTGTTGCCTACCTGCCAGGTACGGTCCTCCAGCCCGTTGTTTCCTTCCGCGGTGAAGGAACTGTGCATTCGCTCCAGGAACACGGACCGGGAACAGGCGACCCGTGCTGCAGGGGCACTTGCCACGGCCTGCAGGAGGAAAAGCCGGGAGAAGCAGGCCCAGCTGCACCCGGAAGCATGAGCTTTCACTTCCCTGTCAGGCTTTGTCTTAGTAGTAGGTTTCCAACAAATCCATTTCCACGTCCAGGGTAAATAAGCAGCACCAGGATCATGGGGCTCTTCCACTCCTGGTGATTGAATTCCGTGGGATTGATTGGAGGGATTACAATCATGTAGCCTGTAGCAGAGACCTCAGTCACTGTGCAGAGAGATCTGGAAGCCTCATTCTGGAAACGAGTGGGACTTGATTTGGGATTTTGGGGAAAATGACGGCCTTTTTTCCCTCCTCTTTTTGTAGGCAGAACAGTATCAAAAGAAGAATCGGAAGATGCTTGTGATTTTAATATTATTTGTCATCATCATTGTGCTCATTGTTGTCCTCGTTGGCGTGAAGTCTCGATAAGTGGCATTGGGTTTTCGTGTGTGCCGCGCGTGTGGATCTCCCGGGTGTGAGGGGCTTGGCCTGCGCCCCGCCAGCTGCCCGCAGAGGTGCAGCCTCGAGGAATCTGAGGGCGTCGGGGCAGCGAACCTTTGCATCCACGGACTCCTCCTTCCCTAGTCCTGCTCAAGCGGTCCGGGGAATGGGTTTTTGTTTTTCCTTCATTGTTGAGAATTTAAGGACCTTTGATACTGCTGCACAATAGAGATTGAGTTCTGGGATCAGTTATAATATATATTTTTTTTAGAAAGAGAAAATGAGCTGAGAGTTTACAGGCACTGCAGAAGCTGTTCAGTATTATATGTGTATATGCTATTTTTTTAGCAGCCATGTCTGAGCAGAATGTTAACATAATTTTTGGAAAAATTTTCTTTAAACCATCTGGTTTTTAAGAAATTTGGTACCAAAAATTGATGAGTAGAGGCAAAAATGCCCCTTCATCTTTCTCTATATATTTTCCAGTTGAAAACAAACTAAGAAGTCCTTTAAGAATTTATAATCCGTTCCCCATTAACTTAATTTAGCTTTTCCATCACTGTTAATGATCAGAGTAACAAAGTGTGAAAAATAAGAAACCATCATTGATGTTAATTAACACATTTAGATGGGCCAGTTAATAAAACAGCTTCATAAGTTTTAAATTAATTGTAAATGGAATATTCCTCATTTAAAATTTTTGCACTGCATTTTCTACTGTAAACCAAAAGAGGTTACTAAGCAAAACCACCTAAATTTAAGTTGGTGATTTAAATGAATCTCACATTAAAAGAAAGCTTGACAGTGTTATGAAAGCCACCAGACTCAGCCAGTGTGTCCCCATGGGTATCCCCAGCCATCCTTGCTCAATCCATTACTTATATACTAACTACATAATGACCTGTTCAAACCAGACTCTATTTAATGAACTGTGAATTTACACAGAGGCCATTTTAAATGGGTCACCCCATTTAGGATTAGTGGATCTCAAATTATTAACCAAACATCACTCCATTTCAAAGTAAAATATTCCACCAGCGATTTGATTTATTGGCTCTTCCATTGCCACTGAGCAATGCCCAGGAAGCAGGCACATTGCCAAGGACTGGGGGCATCTTGACTAGGAAGCTCCTCGTTTGTGTGAGCGTGGGTCAGACCGCCAAAGTAGGACTTCATCGTTTACCTACCTATTATCAATATGGTGCTTGAATATATTCCTATAACTGTAGAACAGTGTGGAAAGTGATGGTAACTTTGAAGTTGTTCATGTTTTATTGGCTTTGTTTTAATTGACACTAGTAGAGTTTTAATGGTCTTTGTGTAAATTTTAATGGCTTTTCCATTGTTTTTGCTTCTCTTAAAAAGTTTAAGAAGAATATGACCTCATTAAATGTGCTGTTTTATTTGGACCAGTCACACAAAATGTCTCTCTAGAGTTGACTTTAAAGTTGTTTACAGAAATTTAAACTCAATTCCAGAGATTGAAGTTGTCCAAACAGCTCATGGGCTTAGTGTCCAAACCCCTGCCCAGCCTTCCCTTTCCAAGTTGGTGCCACCTCCAGGTAGCCATTGGTGGTTTTCCTATTACTGATGTGGCTGTGGAATGATAAGGTCCTAGAGGGGCCCTGGCATTTCAGGAAGCGGACCTGGTATTCCCTGACAAACATTGCTTAGGAAAGAGGGCCGGAGAATAAGAAGCCAGCACCTCATCAGTCAGCCCTGCAATGTGAGACTTCCGTAGCTGTTGAGAGTCACTGCAGGTGTTCTTTCATCCCATCTGATTTTAACCCATGGTTGAGACGTTCCAAGTTAGATCTGCTGCTCTTAGGTGTGGGGCTGTCCACATTAGGGAACTTGCCTCAAAAACAGTCCACAGTGGCAATACCGGACTTCTGTTCAAGCTTTTTAAAGTGCTGAGCCTTACAAACCCCTGAAGGAAAGTGACCCTTTAAGAGAGGATCATCTTTTTTTATATTTATTTTCACCAAATAGGGTGATGAGGGTTGGTTTTTGTTCCCTCAACCCATTTGGGTAAAATAACGGATCTGATTAGAAACTGTTTTAAGGAGGGGCTGGGCTCGGTGGCTCACGCCTGTAATCCCAGACTTTGAGAGGCCAAGGCGGTCACGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCGTCTCTACAAAAAATACAAAAATTAGCCGGGTGGGACACGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAAAAAAAAAAAAAAATTGTTTTAGCGCTGGGTTTCCCAAGGTGGGAGAGACAGACCCAGCCTGGAGCTGGCCCCTGGCCTGTGTGCTGACTTCTTGGGGTCCTCAAACCACTGTATTTTTCTGTTGAGCCTGTACTTGGGGAGAGATCAGTAGCATTTGAGGAAGTAAGAGAAAAGAATCATGGTACCTCAGGGTTTCTTTCCCTTTACTCGCTGGCAGCCATTGTCTGTGGGCACCTCATGTTTTTCCACACTCTACTGGGCCGTGGAGGTAACGATCACCCAGGCCAGTCTCCTCTGCCTGGGATGCGCCCTCTGAGAGGAGGCCTAGCAGGGCAGGCTCC
|
benign
| 315,076 |
A genetic alteration at chromosome 20, position 58854492, in gene GNAS (GNAS complex locus)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
benign
|
CCTGCGCCCCTTCCCAGGCACCAAAAGCCTTGCGCTCCGGACTAGGGGCTTGAGATCCGGGGCTGCCTGGAGGCTGGGGGCTATGACTCAGAGTTTCAGGGGTATCCTGGGGTGATGAAATCCTTCTTCAGTCCCCCCTCCCCCGAGGAGTCGGTTGGGTTGGGGAGGGAGGGTTTCAGCTCCTGTACTCCAGCGTTCCGAGGCCCACGTCTTGCGTCACGTGTCCCGCAACGCAGGAGCGCTTTCTCTGGCCAGCGGAGAAGCGAGGAGAAAGACTCCAAATCAGTCAGGGAGAGGAGTGGAAGGAGCCAAAACGTCCCTGCGAGGCCTGCGCTCACCAGCCCCCTTACCCAAAGTCCCGGGCCCCTGGCGCCAGGAGCAGGCTCCTGGAGCCGGAGCCAGCTCGGCACTGGAACCGGCGTCCTCTGGTGGCAGAGAGAGAGCGCTACTGGCGATTTTCGGACCGAATCGGCACGCTCGTCAGATCCAAGCAGGCGGGACTGGCCTGGAGCAAAAAGAAAGAGAGAGGAGGGCGTAAGGATAGACCAAGGAAGAGGGGCTGGGGGGCAGCCTGGGGGCATGAAAAGTGGCCAGGAAGGAGCCAAGACTCCACCAGCAACAATTGAGTTGCTTCAGCCTCAGTCTAGGGTTCCTTCCAGGCCTTGAACCCCCCAACCTCACAAGGGTTGGAAAGTGAGGCCGGTGAACTTTCCAGCTGGTACTTTGATTTTAAAATAATAATAATAATTTTTTCACCCTAGTTCGGTTGGGTGCTCCATCTTACGGAGCCCCAAACTTATTTTGAGAGGCCGCCACCGTGTTATGGGCGTGCGCAACTGCCTCTACGGCAATAATATGTCAGGACAACGCGATATCCCCCCTGAAATCGGGGAACAGCCCGAGCAACCACCTTTGGAGGCCCCAGGGGCAGCTGCCCCCGGTGCTGGGCCTAGCCCAGCCGAAGAGATGGAGACCGAACCGCCTCACAACGAGCCCATCCCCGTCGAGAATGATGGCGAGGCCTGTGGACCCCCAGAGGTCTCCAGACCCAACTTTCAGGTCCTCAACCCGGCATTCAGGGAAGCTGGAGCCCATGGAAGCTACAGCCCACCTCCTGAGGAAGCAATGCCCTTCGAGGCTGAACAGCCCAGCTTGGGAGGCTTCTGGCCTACACTGGAGCAGCCTGGATTCCCCAGTGGGGTCCATGCAGGCCTTGAGGCCTTCGGCCCAGCACTCATGGAGCCCGGAGCCTTCAGTGGTGCCAGACCAGGCCTGGGAGGATACAGCCCTCCACCAGAAGAAGCTATGCCCTTTGAGTTTGACCAGCCTGCCCAGAGAGGCTGCAGTCAACTTCTCTTACAGGTCCCAGACCTTGCTCCAGGAGGCCCAGGTGCTGCAGGGGTCCCCGGAGCTCCTCCCGAGGAGCCCCAAGCCCTCAGGCCTGCAAAGGCTGGCTCCAGAGGAGGCTACAGCCCTCCCCCTGAGGAGACTATGCCATTTGAGCTTGATGGAGAAGGATTTGGGGACGACAGCCCACCCCCGGGGCTTTCCCGAGTTATCGCACAAGTCGACGGCAGCAGCCAGTTCGCGGCAGTCGCGGCCTCGAGTGCGGTCCGCCTCACTCCCGCCGCGAACGCGCCTCCCCTCTGGGTCCCAGGCGCCATCGGCAGCCCATCCCAAGAGGCTGTCAGACCTCCTTCTAACTTCACGGGCAGCAGCCCCTGGATGGAGATCTCCGGACCCCCGTTCGAGATTGGCAGCGCCCCCGCTGGGGTCGACGACACTCCCGTCAACATGGACAGCCCCCCAATCGCGCTTGACGGCCCGCCCATCAAGGTCTCCGGAGCCCCAGATAAGAGAGAGCGAGCAGAGAGACCCCCAGTTGAGGAGGAAGCAGCAGAGATGGAAGGAGCCGCTGATGCCGCGGAGGGAGGAAAAGTACCCTCTCCGGGGTACGGATCCCCTGCCGCCGGGGCAGCCTCAGCGGATACCGCTGCCAGGGCAGCCCCTGCAGCCCCAGCCGATCCTGACTCCGGGGCAACCCCAGAAGATCCCGACTCCGGGACAGCACCAGCCGATCCTGACTCCGGGGCATTCGCAGCCGATCCCGACTCCGGGGCAGCCCCTGCCGCCCCAGCCGATCCCGACTCCGGGGCGGCCCCTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCCTGACGCCCCAGCCGATCCAGATGCCGGGGCGGCCCCTGAGGCTCCCGCCGCCCCTGCGGCTGCTGAGACCCGGGCAGCCCATGTCGCCCCAGCTGCGCCAGACGCAGGGGCTCCCACTGCCCCAGCCGCTTCTGCCACCCGGGCAGCCCAAGTCCGCCGGGCGGCCTCTGCAGCCCCTGCCTCCGGGGCCAGACGCAAGATCCATCTCAGACCCCCCAGCCCCGAGATCCAGGCTGCCGATCCGCCTACTCCGCGGCCTACTCGCGCGTCTGCCTGGCGGGGCAAGTCCGAGAGCAGCCGCGGCCGCCGCGTGTACTACGATGAAGGGGTGGCCAGCAGCGACGATGACTCCAGCGGAGACGAGTCCGACGATGGGACCTCCGGATGCCTCCGCTGGTTTCAGCATCGGCGAAATCGCCGCCGCCGAAAGCCCCAGCGCAACTTACTCCGCAACTTTCTCGTGCAAGCCTTCGGGGGCTGCTTCGGTCGATCTGAGAGTCCCCAGCCCAAAGCCTCGCGCTCTCTCAAGGTCAAGAAGGTACCCCTGGCGGAGAAGCGCAGACAGATGCGCAAAGAAGCCCTGGAGAAGCGGGCCCAGAAGCGCGCAGAGAAGAAACGCAGTAAGCTCATCGACAAACAACTCCAGGACGAAAAGATGGGCTACATGTGTACGCACCGCCTGCTGCTTCTAGGTAATGCGGCGGACTCTGCCTGCGGGCAGCAGGGCCGCCGGGGAACCGGGGAGGGGGTGGCAGGGCTGCCTGGTGGGGCTAGGGGCTCCGCAGTGGGAGGAGGGGGTCCAGCCAAAGGCGGGAAGAACTTGCTAGAAAGTTCCAGGGAGGGACCCTAACTGCCCTGGGAGCGGGAGGGGATCTTTGGTGGATTCGGGTGGCCGAAGTATATGCCCTCCAGGGAGAAAAGTGGTGCCGAGCGACACTGAGGGTCGTTTCCGGCTGGACAGGCCAGCGCCAGCAACCGTAAGCTGGACAGGCAGGGGCTTCAGGTGAGCCAGGAACTGCCGGGGAGGGGCCCCGGGGCCCCGGGACTCCCCTGGCTAGGCTGGTGGGGTCCACGGTGGGCTGGGGTCATTGGGGAAGGCGCGCCCCGCCTCGCCTGGCACGGCTGCTTGGACTCAGACAGCTTGTCGTTGGTGTGTGTTGGTGTCCATATTCTGTGTTCGCCTGTGCATGATACGCTGAAGTGTCCCCTGTTCCTATCCCGGCACCCCCAAATTACCCGCCGACTGTGTACTTGTACTTGGGAACGGGCTGTGTTGTGGTTTGCGCCATGGCCCGGGCAAAAAACTTTCGCTGTTCGCACACTCTGGTGGTACCTGCGCCCGGGCGCTCTGCGGCAAGCGGTGCGGAGGACACGCGGGGAAGGTGGCGGGGCCTCCCGGGAAATAAGCGGGGCCCTTGGCCTGGGGGAGCGGGGAATCGCTTTTCGCCGGCCTCCGCGTAACCTTGTTTCTGTATGTCTTTCTCTCTTTTTCCTTTTGCGCTAAGCGTTTCCTCACTTCTCATTCGTTCGCCAAACCCTCCCGCCTTTACAGTTGAAAAACCAGACACACAGGTATCTGGGGCGCCCGGGGCTGCACACCTCAGTTCGGTATTCTGCACACACACAGCTCGCCTGGTCGGGGGATGGGGGAAAGGGGAAACACAACCTGCTGTAGGCAAGTCCGGATCCCAAACCACTTGGGGGCTGGTTCCAAGGGGGTGGGCGTGGCTGTGTTTAAAAAATATGAAATAATTTTTCTTCCTAGCGAAGAGCCCGAGGTAAGCCAATCATTTTTACAAAGAGTACAGTAGGAGGGGCTTGGTTTAAAAAGATGGGGGTTATGTGTTGTGAGTGGAATGTCACCTTTGTGTTTGAAATGCAACTAAAATAAAAGTTTT
|
CCTGCGCCCCTTCCCAGGCACCAAAAGCCTTGCGCTCCGGACTAGGGGCTTGAGATCCGGGGCTGCCTGGAGGCTGGGGGCTATGACTCAGAGTTTCAGGGGTATCCTGGGGTGATGAAATCCTTCTTCAGTCCCCCCTCCCCCGAGGAGTCGGTTGGGTTGGGGAGGGAGGGTTTCAGCTCCTGTACTCCAGCGTTCCGAGGCCCACGTCTTGCGTCACGTGTCCCGCAACGCAGGAGCGCTTTCTCTGGCCAGCGGAGAAGCGAGGAGAAAGACTCCAAATCAGTCAGGGAGAGGAGTGGAAGGAGCCAAAACGTCCCTGCGAGGCCTGCGCTCACCAGCCCCCTTACCCAAAGTCCCGGGCCCCTGGCGCCAGGAGCAGGCTCCTGGAGCCGGAGCCAGCTCGGCACTGGAACCGGCGTCCTCTGGTGGCAGAGAGAGAGCGCTACTGGCGATTTTCGGACCGAATCGGCACGCTCGTCAGATCCAAGCAGGCGGGACTGGCCTGGAGCAAAAAGAAAGAGAGAGGAGGGCGTAAGGATAGACCAAGGAAGAGGGGCTGGGGGGCAGCCTGGGGGCATGAAAAGTGGCCAGGAAGGAGCCAAGACTCCACCAGCAACAATTGAGTTGCTTCAGCCTCAGTCTAGGGTTCCTTCCAGGCCTTGAACCCCCCAACCTCACAAGGGTTGGAAAGTGAGGCCGGTGAACTTTCCAGCTGGTACTTTGATTTTAAAATAATAATAATAATTTTTTCACCCTAGTTCGGTTGGGTGCTCCATCTTACGGAGCCCCAAACTTATTTTGAGAGGCCGCCACCGTGTTATGGGCGTGCGCAACTGCCTCTACGGCAATAATATGTCAGGACAACGCGATATCCCCCCTGAAATCGGGGAACAGCCCGAGCAACCACCTTTGGAGGCCCCAGGGGCAGCTGCCCCCGGTGCTGGGCCTAGCCCAGCCGAAGAGATGGAGACCGAACCGCCTCACAACGAGCCCATCCCCGTCGAGAATGATGGCGAGGCCTGTGGACCCCCAGAGGTCTCCAGACCCAACTTTCAGGTCCTCAACCCGGCATTCAGGGAAGCTGGAGCCCATGGAAGCTACAGCCCACCTCCTGAGGAAGCAATGCCCTTCGAGGCTGAACAGCCCAGCTTGGGAGGCTTCTGGCCTACACTGGAGCAGCCTGGATTCCCCAGTGGGGTCCATGCAGGCCTTGAGGCCTTCGGCCCAGCACTCATGGAGCCCGGAGCCTTCAGTGGTGCCAGACCAGGCCTGGGAGGATACAGCCCTCCACCAGAAGAAGCTATGCCCTTTGAGTTTGACCAGCCTGCCCAGAGAGGCTGCAGTCAACTTCTCTTACAGGTCCCAGACCTTGCTCCAGGAGGCCCAGGTGCTGCAGGGGTCCCCGGAGCTCCTCCCGAGGAGCCCCAAGCCCTCAGGCCTGCAAAGGCTGGCTCCAGAGGAGGCTACAGCCCTCCCCCTGAGGAGACTATGCCATTTGAGCTTGATGGAGAAGGATTTGGGGACGACAGCCCACCCCCGGGGCTTTCCCGAGTTATCGCACAAGTCGACGGCAGCAGCCAGTTCGCGGCAGTCGCGGCCTCGAGTGCGGTCCGCCTCACTCCCGCCGCGAACGCGCCTCCCCTCTGGGTCCCAGGCGCCATCGGCAGCCCATCCCAAGAGGCTGTCAGACCTCCTTCTAACTTCACGGGCAGCAGCCCCTGGATGGAGATCTCCGGACCCCCGTTCGAGATTGGCAGCGCCCCCGCTGGGGTCGACGACACTCCCGTCAACATGGACAGCCCCCCAATCGCGCTTGACGGCCCGCCCATCAAGGTCTCCGGAGCCCCAGATAAGAGAGAGCGAGCAGAGAGACCCCCAGTTGAGGAGGAAGCAGCAGAGATGGAAGGAGCCGCTGATGCCGCGGAGGGAGGAAAAGTACCCTCTCCGGGGTACGGATCCCCTGCCGCCGGGGCAGCCTCAGCGGATACCGCTGCCAGGGCAGCCCCTGCAGCCCCAGCCGATCCTGACTCCGGGGCAACCCCAGAAGATCCTGACTCCGGGGCATTCGCAGCCGATCCCGACTCCGGGGCAGCCCCTGCCGCCCCAGCCGATCCCGACTCCGGGGCGGCCCCTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCCTGACGCCCCAGCCGATCCAGATGCCGGGGCGGCCCCTGAGGCTCCCGCCGCCCCTGCGGCTGCTGAGACCCGGGCAGCCCATGTCGCCCCAGCTGCGCCAGACGCAGGGGCTCCCACTGCCCCAGCCGCTTCTGCCACCCGGGCAGCCCAAGTCCGCCGGGCGGCCTCTGCAGCCCCTGCCTCCGGGGCCAGACGCAAGATCCATCTCAGACCCCCCAGCCCCGAGATCCAGGCTGCCGATCCGCCTACTCCGCGGCCTACTCGCGCGTCTGCCTGGCGGGGCAAGTCCGAGAGCAGCCGCGGCCGCCGCGTGTACTACGATGAAGGGGTGGCCAGCAGCGACGATGACTCCAGCGGAGACGAGTCCGACGATGGGACCTCCGGATGCCTCCGCTGGTTTCAGCATCGGCGAAATCGCCGCCGCCGAAAGCCCCAGCGCAACTTACTCCGCAACTTTCTCGTGCAAGCCTTCGGGGGCTGCTTCGGTCGATCTGAGAGTCCCCAGCCCAAAGCCTCGCGCTCTCTCAAGGTCAAGAAGGTACCCCTGGCGGAGAAGCGCAGACAGATGCGCAAAGAAGCCCTGGAGAAGCGGGCCCAGAAGCGCGCAGAGAAGAAACGCAGTAAGCTCATCGACAAACAACTCCAGGACGAAAAGATGGGCTACATGTGTACGCACCGCCTGCTGCTTCTAGGTAATGCGGCGGACTCTGCCTGCGGGCAGCAGGGCCGCCGGGGAACCGGGGAGGGGGTGGCAGGGCTGCCTGGTGGGGCTAGGGGCTCCGCAGTGGGAGGAGGGGGTCCAGCCAAAGGCGGGAAGAACTTGCTAGAAAGTTCCAGGGAGGGACCCTAACTGCCCTGGGAGCGGGAGGGGATCTTTGGTGGATTCGGGTGGCCGAAGTATATGCCCTCCAGGGAGAAAAGTGGTGCCGAGCGACACTGAGGGTCGTTTCCGGCTGGACAGGCCAGCGCCAGCAACCGTAAGCTGGACAGGCAGGGGCTTCAGGTGAGCCAGGAACTGCCGGGGAGGGGCCCCGGGGCCCCGGGACTCCCCTGGCTAGGCTGGTGGGGTCCACGGTGGGCTGGGGTCATTGGGGAAGGCGCGCCCCGCCTCGCCTGGCACGGCTGCTTGGACTCAGACAGCTTGTCGTTGGTGTGTGTTGGTGTCCATATTCTGTGTTCGCCTGTGCATGATACGCTGAAGTGTCCCCTGTTCCTATCCCGGCACCCCCAAATTACCCGCCGACTGTGTACTTGTACTTGGGAACGGGCTGTGTTGTGGTTTGCGCCATGGCCCGGGCAAAAAACTTTCGCTGTTCGCACACTCTGGTGGTACCTGCGCCCGGGCGCTCTGCGGCAAGCGGTGCGGAGGACACGCGGGGAAGGTGGCGGGGCCTCCCGGGAAATAAGCGGGGCCCTTGGCCTGGGGGAGCGGGGAATCGCTTTTCGCCGGCCTCCGCGTAACCTTGTTTCTGTATGTCTTTCTCTCTTTTTCCTTTTGCGCTAAGCGTTTCCTCACTTCTCATTCGTTCGCCAAACCCTCCCGCCTTTACAGTTGAAAAACCAGACACACAGGTATCTGGGGCGCCCGGGGCTGCACACCTCAGTTCGGTATTCTGCACACACACAGCTCGCCTGGTCGGGGGATGGGGGAAAGGGGAAACACAACCTGCTGTAGGCAAGTCCGGATCCCAAACCACTTGGGGGCTGGTTCCAAGGGGGTGGGCGTGGCTGTGTTTAAAAAATATGAAATAATTTTTCTTCCTAGCGAAGAGCCCGAGGTAAGCCAATCATTTTTACAAAGAGTACAGTAGGAGGGGCTTGGTTTAAAAAGATGGGGGTTATGTGTTGTGAGTGGAATGTCACCTTTGTGTTTGAAATGCAACTAAAATAAAAGTTTTNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
benign
| 315,101 |
Gene GNAS (GNAS complex locus) variant at chromosome 20, position 58891706—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
benign
|
TCCCTTTTTCGTTTGCTCATCCTTTTTGGCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCGAGAAGAAGCTGCTGGAGCAGAGGCGAAAGGAGGAGAAGAAGAAGGAGAAGGAGAGGAAGAAGATGGAGAAGATGCTGAAGAAGAAGAAGAAGAAGGTGCCAGAAGCCCAGGAGGAGGCCCGATGCCCCGAGGCCGCCGCCGCCGCGGCCGCCGCCGACGACGACGAGGGCGCCGAGGAGGGCGCCGTCGGGGGCGCCGAGGAGGGCGCCGCCGCCGGGGGCACGAGTAGGGCCTGGGCTGACTGGGACACGGACTCGAGCGACGAGGACGACGCCTACTACGCGGCGCCGCGCGTTGGGGGCATCGTGTGGCGGCCCGGGCCGCTCAAGGCTGGCGCGCTGAGCGCCCACCTGCCCCTCGTGGTGTTCCTGGTCTTCTCGGTGCGCAGCCCCTCGTGGGTGCTCAACTTCCTGCTGCAGAAGCGCACGGAGCAGGGCCGCGGCTGCGGCTTCGTGTTCGGGGCGACCTGCTGCTTCCGAGTGTTCCTGGGCTGCGCCTTCTTCTCCTACTTGGGCGGCCGCGCCAAGCGCAGAGGCCGCGGGCGCTCCGGGGCCAGAGGCGCCTTCGGCTCGGGCCATGGCGCCCGGCGCCGGGGGCGCGAGGAGCGGCTCATCTAGTCAGACCCCCCACCCCGCCACCGCCACCAGACACCACCATCGCTGTGTAGTGTGGGTTTTTATTCGTGTTCGTGTGTGTGTGTGGACACATTTTCCTTTTCGGTTGCTCTGTCCTTTGGTTCGTGCTCGCCTCGCTTTTTCCACACTCCTGCTCTCTGGCTCTCTGTGTCTCTCGCTCTTTCGAAAATTTTCCTAAGTCCGGGCGCGCGCTCCCTCCCCTTCCGCCCACCCCAGCCCCTCGGCGGCGCCCGCGGGAGGGGGAGGAGGCCTCGGGGGCGCCGGGCGACGCGGTCCGGGGGGTGGAGCGTTGGCGTCGTGCGAGGGGTCGTCACTGGCGCGGAGACGCCCCCTCTCCCCCCTCGGCTCAGCCGGGCTGCTGCCCGAGCCCGGGGGGTGGGGGGCGTCTCCCCGGCCCGTCCCGTCCCCGGCCGGGCGCGGGCGGAGGGACCCCCTCCCCGGGCTCCCGGGGGGCCGCCTCCCTCCGCCGGCTCCCGCCCTCCCAGCCGCCGCCGCCGCCGCGGCCGCTCCTCGGCCCTCCTCCTCCTCCTCCTCCTTCCACCCCCCTCGCCGCCGCCGCCTCCTCCTCCCCCCGCCTCCCCCCGCCCGCCGCGGCGCTTTTGGCTCGGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGCGGCGGCGGCGGCAGCGGCGGCAGCAGCTCCCGCAGCTCCTGCTCTGGTCCGCCTCGGCCCGGCGGCGGCCATCAGCCCCCTCGGCCTCGGCTCGAGGGGCGGGGAGCTGCGCGCGCCCCTCGGTCCGACCGACACCCTCCCCTTCCCGCCCGTCCGCGCGCCCCGCGGCCCGCGGCCCGCAGTCCGCCCCGCGCGCTCCTTGCCGAGGAGCCGAGCCCGCGCCCGGCCCGCCCGCCCGGCGCTGCCCCGGCCCTCCCGGCCCGCGTGAGGCCGCCCGCGCCCGCCGCCGCCGCAGCCCGGCCGCGCCCCGCCGCCGCCGCCGCCGCCATGGGCTGCCTCGGGAACAGTAAGACCGAGGACCAGCGCAACGAGGAGAAGGCGCAGCGTGAGGCCAACAAAAAGATCGAGAAGCAGCTGCAGAAGGACAAGCAGGTCTACCGGGCCACGCACCGCCTGCTGCTGCTGGGTAAGGGCGGGCGGGGGGCGCCGGCCCCGGCCCGGGGGCCCTCGAAGGGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCCCGCCCCGGGCGCGCGCTCCCGAGCCCCCCGCCCGTTCGCGGGCTCTGTCTGTGGGGGGCGAGGCCGGAAGGGGGACCCAGGGGCGCGGATTCGGCCGGGCGGGGGCTCAAAAACGGGGCGGGGGGCCGTGGCGACGCGGGCGCGGGTCCCCCTCCCCCGGCCTGCCCGCTCAGTGTCTCTCTCTTGCTCTCGCTCTCGCTCTCCCCCTCTTTCTCTCTTTCTCTCTTTTTCCGCGAGGCCTACACGACGCCAGGGGTTTGGGTGCGTGTTGGGGAGGGGGAGGGGGAGCCCATGGGGCTCCGGAGACTGCGACAAAAAGAGGGTTTCGGGGACAGGAAACCGGGTGGCGGGTAGAGGGAGGGGGACCCGCCTCCGTGGGGTGTGAGATTTGTTGGGAGAGGGAAAGAGGGGAAGAAAGGGGCGAGGAGAGGAGGGGGTGACGCTGGGGGGCGCCGTGGTGGCGGAGGGGGCCTCGCCAAAGGGAGGCTTTGGCGGGGAGAAGTGGCCGAGGAGAGTGGGGGGGCTGGTGACATCAGCCCCTCGGAAAGGATCGGAGCGGTAAAGGTGGTGCAGTGGGGGGGAGGGGGCGCAAGGGAGTCGTGGCGCCGGAGTCGGGAGGGGGGCGGCGAGGGGAGGAGGGAGGGCGGTTGCCGCTGGGCGCGACTTGGTGCGTTTCGGGCAGGACCGACTGACTGTGTGTGCGCGGAGCAGACGTGTCCCGGGCCAGGCCGGGCCGTGGAAGGAGGAGAAGGAGAGTCAAATAAAATAAGACCACCCCCCAACACCAAAAAATGGATAGAGTTAGTACGAGAAGTGCCCAGTGAAGCCAAATGACACGTCATTTTACAGTGTGACCTTTTTTTCCCCTTCCAGACTTGCAGGCTTTTTCAAAAGCAGAGCGGAGAATTAATTGTAGCAGCTGCCCCCCCCACCCACCACGAGCAGCGCCCCCCCAACACTATTTTAATAAACCATTAAAAAAAACACATTTTCCTGCTGGCTGGCCACATTGAGAGTGCTTTGTGAAAAGAAAAAACAAAGACATTCACAAATCAGATAAAACTGGAGAATGACATTTGTCTGTAAATGGCTTCTTGGTCTGGAAATGGCGTGGTTTCTTTTTTTTTTTTTTTTTTTTTTTGTCCTCCTCAAGGTGGGAGGGGGGATTGAGAGTGCTCTAAGGAGACTTTTCCTCCAGGTGGGAAGAGATAAAAAGACATTAATTAGTTGTTTATCAAGTGACATTTAGTTGTTTGGTTTTGGGTTTTCTTTTTTTGATTGCGATTTTTCCTCTGATTAAAAAAATAATAATAAAATAAAAAAAGGTTAACTATAAGGAGATGGCCTTTCCTCCTTTTTTTTCTTAAGGTGCTGTTTTGGGGGAAAAAAATGTAATGAAATGACCAAAAGAATTACACAGCATTAATTAAAAATGGAAGTTTTCCACTTCCTTGATAATTTGGCTATCTGAATAAATTTGTGAATTTGCTAGGTTAAGACCTAGTTCGTGGTCACATTTCAACAAAACAGCTTGAGTATAAAGAAAATAATAAAAGGCTGTTCTTATTTATTTTCCTTTGGTGGCTTTTGGTTTGCTCTTTTTGCATAGGTCATGACTTTGTTCTCCTGGGTCCAGATTTATAAAAGCAGAAAATTACTAATTAAGTCAAAATAAGTGTCTTTGGTGTTTATGCATTTGCAATTTCAGTAATTAAATGGTACATGTGTTGCTGTCTTGTCTAAAACTTTTAAAGGCAGAATTATGCTGTTGGGATATTAGTATGCGTATAACTTGATTTCAAAGT
|
TCCCTTTTTCGTTTGCTCATCCTTTTTGGCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCGAGAAGAAGCTGCTGGAGCAGAGGCGAAAGGAGGAGAAGAAGAAGGAGAAGGAGAGGAAGAAGATGGAGAAGATGCTGAAGAAGAAGAAGAAGAAGGTGCCAGAAGCCCAGGAGGAGGCCCGATGCCCCGAGGCCGCCGCCGCCGCGGCCGCCGCCGACGACGACGAGGGCGCCGAGGAGGGCGCCGTCGGGGGCGCCGAGGAGGGCGCCGCCGCCGGGGGCACGAGTAGGGCCTGGGCTGACTGGGACACGGACTCGAGCGACGAGGACGACGCCTACTACGCGGCGCCGCGCGTTGGGGGCATCGTGTGGCGGCCCGGGCCGCTCAAGGCTGGCGCGCTGAGCGCCCACCTGCCCCTCGTGGTGTTCCTGGTCTTCTCGGTGCGCAGCCCCTCGTGGGTGCTCAACTTCCTGCTGCAGAAGCGCACGGAGCAGGGCCGCGGCTGCGGCTTCGTGTTCGGGGCGACCTGCTGCTTCCGAGTGTTCCTGGGCTGCGCCTTCTTCTCCTACTTGGGCGGCCGCGCCAAGCGCAGAGGCCGCGGGCGCTCCGGGGCCAGAGGCGCCTTCGGCTCGGGCCATGGCGCCCGGCGCCGGGGGCGCGAGGAGCGGCTCATCTAGTCAGACCCCCCACCCCGCCACCGCCACCAGACACCACCATCGCTGTGTAGTGTGGGTTTTTATTCGTGTTCGTGTGTGTGTGTGGACACATTTTCCTTTTCGGTTGCTCTGTCCTTTGGTTCGTGCTCGCCTCGCTTTTTCCACACTCCTGCTCTCTGGCTCTCTGTGTCTCTCGCTCTTTCGAAAATTTTCCTAAGTCCGGGCGCGCGCTCCCTCCCCTTCCGCCCACCCCAGCCCCTCGGCGGCGCCCGCGGGAGGGGGAGGAGGCCTCGGGGGCGCCGGGCGACGCGGTCCGGGGGGTGGAGCGTTGGCGTCGTGCGAGGGGTCGTCACTGGCGCGGAGACGCCCCCTCTCCCCCCTCGGCTCAGCCGGGCTGCTGCCCGAGCCCGGGGGGTGGGGGGCGTCTCCCCGGCCCGTCCCGTCCCCGGCCGGGCGCGGGCGGAGGGACCCCCTCCCCGGGCTCCCGGGGGGCCGCCTCCCTCCGCCGGCTCCCGCCCTCCCAGCCGCCGCCGCCGCCGCGGCCGCTCCTCGGCCCTCCTCCTCCTCCTCCTCCTTCCACCCCCCTCGCCGCCGCCGCCTCCTCCTCCCCCCGCCTCCCCCCGCCCGCCGCGGCGCTTTTGGCTCGGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGCGGCGGCGGCGGCAGCGGCGGCAGCAGCTCCCGCAGCTCCTGCTCTGGTCCGCCTCGGCCCGGCGGCGGCCATCAGCCCCCTCGGCCTCGGCTCGAGGGGCGGGGAGCTGCGCGCGCCCCTCGGTCCGACCGACACCCTCCCCTTCCCGCCCGTCCGCGCGCCCCGCGGCCCGCGGCCCGCAGTCCGCCCCGCGCGCTCCTTGCCGAGGAGCCGAGCCCGCGCCCGGCCCGCCCGCCCGGCGCTGCCCCGGCCCTCCCGGCCCGCGTGAGGCCGCCCGCGCCCGCCGCCGCCGCAGCCCGGCCGCGCCCCGCCGCCGCCGCCGCCGCCGCCATGGGCTGCCTCGGGAACAGTAAGACCGAGGACCAGCGCAACGAGGAGAAGGCGCAGCGTGAGGCCAACAAAAAGATCGAGAAGCAGCTGCAGAAGGACAAGCAGGTCTACCGGGCCACGCACCGCCTGCTGCTGCTGGGTAAGGGCGGGCGGGGGGCGCCGGCCCCGGCCCGGGGGCCCTCGAAGGGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCCCGCCCCGGGCGCGCGCTCCCGAGCCCCCCGCCCGTTCGCGGGCTCTGTCTGTGGGGGGCGAGGCCGGAAGGGGGACCCAGGGGCGCGGATTCGGCCGGGCGGGGGCTCAAAAACGGGGCGGGGGGCCGTGGCGACGCGGGCGCGGGTCCCCCTCCCCCGGCCTGCCCGCTCAGTGTCTCTCTCTTGCTCTCGCTCTCGCTCTCCCCCTCTTTCTCTCTTTCTCTCTTTTTCCGCGAGGCCTACACGACGCCAGGGGTTTGGGTGCGTGTTGGGGAGGGGGAGGGGGAGCCCATGGGGCTCCGGAGACTGCGACAAAAAGAGGGTTTCGGGGACAGGAAACCGGGTGGCGGGTAGAGGGAGGGGGACCCGCCTCCGTGGGGTGTGAGATTTGTTGGGAGAGGGAAAGAGGGGAAGAAAGGGGCGAGGAGAGGAGGGGGTGACGCTGGGGGGCGCCGTGGTGGCGGAGGGGGCCTCGCCAAAGGGAGGCTTTGGCGGGGAGAAGTGGCCGAGGAGAGTGGGGGGGCTGGTGACATCAGCCCCTCGGAAAGGATCGGAGCGGTAAAGGTGGTGCAGTGGGGGGGAGGGGGCGCAAGGGAGTCGTGGCGCCGGAGTCGGGAGGGGGGCGGCGAGGGGAGGAGGGAGGGCGGTTGCCGCTGGGCGCGACTTGGTGCGTTTCGGGCAGGACCGACTGACTGTGTGTGCGCGGAGCAGACGTGTCCCGGGCCAGGCCGGGCCGTGGAAGGAGGAGAAGGAGAGTCAAATAAAATAAGACCACCCCCCAACACCAAAAAATGGATAGAGTTAGTACGAGAAGTGCCCAGTGAAGCCAAATGACACGTCATTTTACAGTGTGACCTTTTTTTCCCCTTCCAGACTTGCAGGCTTTTTCAAAAGCAGAGCGGAGAATTAATTGTAGCAGCTGCCCCCCCCACCCACCACGAGCAGCGCCCCCCCAACACTATTTTAATAAACCATTAAAAAAAACACATTTTCCTGCTGGCTGGCCACATTGAGAGTGCTTTGTGAAAAGAAAAAACAAAGACATTCACAAATCAGATAAAACTGGAGAATGACATTTGTCTGTAAATGGCTTCTTGGTCTGGAAATGGCGTGGTTTCTTTTTTTTTTTTTTTTTTTTTTTGTCCTCCTCAAGGTGGGAGGGGGGATTGAGAGTGCTCTAAGGAGACTTTTCCTCCAGGTGGGAAGAGATAAAAAGACATTAATTAGTTGTTTATCAAGTGACATTTAGTTGTTTGGTTTTGGGTTTTCTTTTTTTGATTGCGATTTTTCCTCTGATTAAAAAAATAATAATAAAATAAAAAAAGGTTAACTATAAGGAGATGGCCTTTCCTCCTTTTTTTTCTTAAGGTGCTGTTTTGGGGGAAAAAAATGTAATGAAATGACCAAAAGAATTACACAGCATTAATTAAAAATGGAAGTTTTCCACTTCCTTGATAATTTGGCTATCTGAATAAATTTGTGAATTTGCTAGGTTAAGACCTAGTTCGTGGTCACATTTCAACAAAACAGCTTGAGTATAAAGAAAATAATAAAAGGCTGTTCTTATTTATTTTCCTTTGGTGGCTTTTGGTTTGCTCTTTTTGCATAGGTCATGACTTTGTTCTCCTGGGTCCAGATTTATAAAAGCAGAAAATTACTAATTAAGTCAAAATAAGTGTCTTTGGTGTTTATGCATTTGCAATTTCAGTAATTAAATGGTACATGTGTTGCTGTCTTGTCTAAAACTTTTAAAGGCAGAATTATGCTGTTGGGATATTAGTATGCGTATAACTTGATTTCAA
|
benign
| 315,114 |
Gene mutation in GNAS (GNAS complex locus) at chromosome 20, position 58891706—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
benign
|
TCCCTTTTTCGTTTGCTCATCCTTTTTGGCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCGAGAAGAAGCTGCTGGAGCAGAGGCGAAAGGAGGAGAAGAAGAAGGAGAAGGAGAGGAAGAAGATGGAGAAGATGCTGAAGAAGAAGAAGAAGAAGGTGCCAGAAGCCCAGGAGGAGGCCCGATGCCCCGAGGCCGCCGCCGCCGCGGCCGCCGCCGACGACGACGAGGGCGCCGAGGAGGGCGCCGTCGGGGGCGCCGAGGAGGGCGCCGCCGCCGGGGGCACGAGTAGGGCCTGGGCTGACTGGGACACGGACTCGAGCGACGAGGACGACGCCTACTACGCGGCGCCGCGCGTTGGGGGCATCGTGTGGCGGCCCGGGCCGCTCAAGGCTGGCGCGCTGAGCGCCCACCTGCCCCTCGTGGTGTTCCTGGTCTTCTCGGTGCGCAGCCCCTCGTGGGTGCTCAACTTCCTGCTGCAGAAGCGCACGGAGCAGGGCCGCGGCTGCGGCTTCGTGTTCGGGGCGACCTGCTGCTTCCGAGTGTTCCTGGGCTGCGCCTTCTTCTCCTACTTGGGCGGCCGCGCCAAGCGCAGAGGCCGCGGGCGCTCCGGGGCCAGAGGCGCCTTCGGCTCGGGCCATGGCGCCCGGCGCCGGGGGCGCGAGGAGCGGCTCATCTAGTCAGACCCCCCACCCCGCCACCGCCACCAGACACCACCATCGCTGTGTAGTGTGGGTTTTTATTCGTGTTCGTGTGTGTGTGTGGACACATTTTCCTTTTCGGTTGCTCTGTCCTTTGGTTCGTGCTCGCCTCGCTTTTTCCACACTCCTGCTCTCTGGCTCTCTGTGTCTCTCGCTCTTTCGAAAATTTTCCTAAGTCCGGGCGCGCGCTCCCTCCCCTTCCGCCCACCCCAGCCCCTCGGCGGCGCCCGCGGGAGGGGGAGGAGGCCTCGGGGGCGCCGGGCGACGCGGTCCGGGGGGTGGAGCGTTGGCGTCGTGCGAGGGGTCGTCACTGGCGCGGAGACGCCCCCTCTCCCCCCTCGGCTCAGCCGGGCTGCTGCCCGAGCCCGGGGGGTGGGGGGCGTCTCCCCGGCCCGTCCCGTCCCCGGCCGGGCGCGGGCGGAGGGACCCCCTCCCCGGGCTCCCGGGGGGCCGCCTCCCTCCGCCGGCTCCCGCCCTCCCAGCCGCCGCCGCCGCCGCGGCCGCTCCTCGGCCCTCCTCCTCCTCCTCCTCCTTCCACCCCCCTCGCCGCCGCCGCCTCCTCCTCCCCCCGCCTCCCCCCGCCCGCCGCGGCGCTTTTGGCTCGGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGCGGCGGCGGCGGCAGCGGCGGCAGCAGCTCCCGCAGCTCCTGCTCTGGTCCGCCTCGGCCCGGCGGCGGCCATCAGCCCCCTCGGCCTCGGCTCGAGGGGCGGGGAGCTGCGCGCGCCCCTCGGTCCGACCGACACCCTCCCCTTCCCGCCCGTCCGCGCGCCCCGCGGCCCGCGGCCCGCAGTCCGCCCCGCGCGCTCCTTGCCGAGGAGCCGAGCCCGCGCCCGGCCCGCCCGCCCGGCGCTGCCCCGGCCCTCCCGGCCCGCGTGAGGCCGCCCGCGCCCGCCGCCGCCGCAGCCCGGCCGCGCCCCGCCGCCGCCGCCGCCGCCATGGGCTGCCTCGGGAACAGTAAGACCGAGGACCAGCGCAACGAGGAGAAGGCGCAGCGTGAGGCCAACAAAAAGATCGAGAAGCAGCTGCAGAAGGACAAGCAGGTCTACCGGGCCACGCACCGCCTGCTGCTGCTGGGTAAGGGCGGGCGGGGGGCGCCGGCCCCGGCCCGGGGGCCCTCGAAGGGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCCCGCCCCGGGCGCGCGCTCCCGAGCCCCCCGCCCGTTCGCGGGCTCTGTCTGTGGGGGGCGAGGCCGGAAGGGGGACCCAGGGGCGCGGATTCGGCCGGGCGGGGGCTCAAAAACGGGGCGGGGGGCCGTGGCGACGCGGGCGCGGGTCCCCCTCCCCCGGCCTGCCCGCTCAGTGTCTCTCTCTTGCTCTCGCTCTCGCTCTCCCCCTCTTTCTCTCTTTCTCTCTTTTTCCGCGAGGCCTACACGACGCCAGGGGTTTGGGTGCGTGTTGGGGAGGGGGAGGGGGAGCCCATGGGGCTCCGGAGACTGCGACAAAAAGAGGGTTTCGGGGACAGGAAACCGGGTGGCGGGTAGAGGGAGGGGGACCCGCCTCCGTGGGGTGTGAGATTTGTTGGGAGAGGGAAAGAGGGGAAGAAAGGGGCGAGGAGAGGAGGGGGTGACGCTGGGGGGCGCCGTGGTGGCGGAGGGGGCCTCGCCAAAGGGAGGCTTTGGCGGGGAGAAGTGGCCGAGGAGAGTGGGGGGGCTGGTGACATCAGCCCCTCGGAAAGGATCGGAGCGGTAAAGGTGGTGCAGTGGGGGGGAGGGGGCGCAAGGGAGTCGTGGCGCCGGAGTCGGGAGGGGGGCGGCGAGGGGAGGAGGGAGGGCGGTTGCCGCTGGGCGCGACTTGGTGCGTTTCGGGCAGGACCGACTGACTGTGTGTGCGCGGAGCAGACGTGTCCCGGGCCAGGCCGGGCCGTGGAAGGAGGAGAAGGAGAGTCAAATAAAATAAGACCACCCCCCAACACCAAAAAATGGATAGAGTTAGTACGAGAAGTGCCCAGTGAAGCCAAATGACACGTCATTTTACAGTGTGACCTTTTTTTCCCCTTCCAGACTTGCAGGCTTTTTCAAAAGCAGAGCGGAGAATTAATTGTAGCAGCTGCCCCCCCCACCCACCACGAGCAGCGCCCCCCCAACACTATTTTAATAAACCATTAAAAAAAACACATTTTCCTGCTGGCTGGCCACATTGAGAGTGCTTTGTGAAAAGAAAAAACAAAGACATTCACAAATCAGATAAAACTGGAGAATGACATTTGTCTGTAAATGGCTTCTTGGTCTGGAAATGGCGTGGTTTCTTTTTTTTTTTTTTTTTTTTTTTGTCCTCCTCAAGGTGGGAGGGGGGATTGAGAGTGCTCTAAGGAGACTTTTCCTCCAGGTGGGAAGAGATAAAAAGACATTAATTAGTTGTTTATCAAGTGACATTTAGTTGTTTGGTTTTGGGTTTTCTTTTTTTGATTGCGATTTTTCCTCTGATTAAAAAAATAATAATAAAATAAAAAAAGGTTAACTATAAGGAGATGGCCTTTCCTCCTTTTTTTTCTTAAGGTGCTGTTTTGGGGGAAAAAAATGTAATGAAATGACCAAAAGAATTACACAGCATTAATTAAAAATGGAAGTTTTCCACTTCCTTGATAATTTGGCTATCTGAATAAATTTGTGAATTTGCTAGGTTAAGACCTAGTTCGTGGTCACATTTCAACAAAACAGCTTGAGTATAAAGAAAATAATAAAAGGCTGTTCTTATTTATTTTCCTTTGGTGGCTTTTGGTTTGCTCTTTTTGCATAGGTCATGACTTTGTTCTCCTGGGTCCAGATTTATAAAAGCAGAAAATTACTAATTAAGTCAAAATAAGTGTCTTTGGTGTTTATGCATTTGCAATTTCAGTAATTAAATGGTACATGTGTTGCTGTCTTGTCTAAAACTTTTAAAGGCAGAATTATGCTGTTGGGATATTAGTATGCGTATAACTTGATTTCAAAGT
|
TCCCTTTTTCGTTTGCTCATCCTTTTTGGCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCGAGAAGAAGCTGCTGGAGCAGAGGCGAAAGGAGGAGAAGAAGAAGGAGAAGGAGAGGAAGAAGATGGAGAAGATGCTGAAGAAGAAGAAGAAGAAGGTGCCAGAAGCCCAGGAGGAGGCCCGATGCCCCGAGGCCGCCGCCGCCGCGGCCGCCGCCGACGACGACGAGGGCGCCGAGGAGGGCGCCGTCGGGGGCGCCGAGGAGGGCGCCGCCGCCGGGGGCACGAGTAGGGCCTGGGCTGACTGGGACACGGACTCGAGCGACGAGGACGACGCCTACTACGCGGCGCCGCGCGTTGGGGGCATCGTGTGGCGGCCCGGGCCGCTCAAGGCTGGCGCGCTGAGCGCCCACCTGCCCCTCGTGGTGTTCCTGGTCTTCTCGGTGCGCAGCCCCTCGTGGGTGCTCAACTTCCTGCTGCAGAAGCGCACGGAGCAGGGCCGCGGCTGCGGCTTCGTGTTCGGGGCGACCTGCTGCTTCCGAGTGTTCCTGGGCTGCGCCTTCTTCTCCTACTTGGGCGGCCGCGCCAAGCGCAGAGGCCGCGGGCGCTCCGGGGCCAGAGGCGCCTTCGGCTCGGGCCATGGCGCCCGGCGCCGGGGGCGCGAGGAGCGGCTCATCTAGTCAGACCCCCCACCCCGCCACCGCCACCAGACACCACCATCGCTGTGTAGTGTGGGTTTTTATTCGTGTTCGTGTGTGTGTGTGGACACATTTTCCTTTTCGGTTGCTCTGTCCTTTGGTTCGTGCTCGCCTCGCTTTTTCCACACTCCTGCTCTCTGGCTCTCTGTGTCTCTCGCTCTTTCGAAAATTTTCCTAAGTCCGGGCGCGCGCTCCCTCCCCTTCCGCCCACCCCAGCCCCTCGGCGGCGCCCGCGGGAGGGGGAGGAGGCCTCGGGGGCGCCGGGCGACGCGGTCCGGGGGGTGGAGCGTTGGCGTCGTGCGAGGGGTCGTCACTGGCGCGGAGACGCCCCCTCTCCCCCCTCGGCTCAGCCGGGCTGCTGCCCGAGCCCGGGGGGTGGGGGGCGTCTCCCCGGCCCGTCCCGTCCCCGGCCGGGCGCGGGCGGAGGGACCCCCTCCCCGGGCTCCCGGGGGGCCGCCTCCCTCCGCCGGCTCCCGCCCTCCCAGCCGCCGCCGCCGCCGCGGCCGCTCCTCGGCCCTCCTCCTCCTCCTCCTCCTTCCACCCCCCTCGCCGCCGCCGCCTCCTCCTCCCCCCGCCTCCCCCCGCCCGCCGCGGCGCTTTTGGCTCGGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGCGGCGGCGGCGGCAGCGGCGGCAGCAGCTCCCGCAGCTCCTGCTCTGGTCCGCCTCGGCCCGGCGGCGGCCATCAGCCCCCTCGGCCTCGGCTCGAGGGGCGGGGAGCTGCGCGCGCCCCTCGGTCCGACCGACACCCTCCCCTTCCCGCCCGTCCGCGCGCCCCGCGGCCCGCGGCCCGCAGTCCGCCCCGCGCGCTCCTTGCCGAGGAGCCGAGCCCGCGCCCGGCCCGCCCGCCCGGCGCTGCCCCGGCCCTCCCGGCCCGCGTGAGGCCGCCCGCGCCCGCCGCCGCCGCAGCCCGGCCGCGCCCCGCCGCCGCCGCCGCCGCCGCCGCCATGGGCTGCCTCGGGAACAGTAAGACCGAGGACCAGCGCAACGAGGAGAAGGCGCAGCGTGAGGCCAACAAAAAGATCGAGAAGCAGCTGCAGAAGGACAAGCAGGTCTACCGGGCCACGCACCGCCTGCTGCTGCTGGGTAAGGGCGGGCGGGGGGCGCCGGCCCCGGCCCGGGGGCCCTCGAAGGGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCCCGCCCCGGGCGCGCGCTCCCGAGCCCCCCGCCCGTTCGCGGGCTCTGTCTGTGGGGGGCGAGGCCGGAAGGGGGACCCAGGGGCGCGGATTCGGCCGGGCGGGGGCTCAAAAACGGGGCGGGGGGCCGTGGCGACGCGGGCGCGGGTCCCCCTCCCCCGGCCTGCCCGCTCAGTGTCTCTCTCTTGCTCTCGCTCTCGCTCTCCCCCTCTTTCTCTCTTTCTCTCTTTTTCCGCGAGGCCTACACGACGCCAGGGGTTTGGGTGCGTGTTGGGGAGGGGGAGGGGGAGCCCATGGGGCTCCGGAGACTGCGACAAAAAGAGGGTTTCGGGGACAGGAAACCGGGTGGCGGGTAGAGGGAGGGGGACCCGCCTCCGTGGGGTGTGAGATTTGTTGGGAGAGGGAAAGAGGGGAAGAAAGGGGCGAGGAGAGGAGGGGGTGACGCTGGGGGGCGCCGTGGTGGCGGAGGGGGCCTCGCCAAAGGGAGGCTTTGGCGGGGAGAAGTGGCCGAGGAGAGTGGGGGGGCTGGTGACATCAGCCCCTCGGAAAGGATCGGAGCGGTAAAGGTGGTGCAGTGGGGGGGAGGGGGCGCAAGGGAGTCGTGGCGCCGGAGTCGGGAGGGGGGCGGCGAGGGGAGGAGGGAGGGCGGTTGCCGCTGGGCGCGACTTGGTGCGTTTCGGGCAGGACCGACTGACTGTGTGTGCGCGGAGCAGACGTGTCCCGGGCCAGGCCGGGCCGTGGAAGGAGGAGAAGGAGAGTCAAATAAAATAAGACCACCCCCCAACACCAAAAAATGGATAGAGTTAGTACGAGAAGTGCCCAGTGAAGCCAAATGACACGTCATTTTACAGTGTGACCTTTTTTTCCCCTTCCAGACTTGCAGGCTTTTTCAAAAGCAGAGCGGAGAATTAATTGTAGCAGCTGCCCCCCCCACCCACCACGAGCAGCGCCCCCCCAACACTATTTTAATAAACCATTAAAAAAAACACATTTTCCTGCTGGCTGGCCACATTGAGAGTGCTTTGTGAAAAGAAAAAACAAAGACATTCACAAATCAGATAAAACTGGAGAATGACATTTGTCTGTAAATGGCTTCTTGGTCTGGAAATGGCGTGGTTTCTTTTTTTTTTTTTTTTTTTTTTTGTCCTCCTCAAGGTGGGAGGGGGGATTGAGAGTGCTCTAAGGAGACTTTTCCTCCAGGTGGGAAGAGATAAAAAGACATTAATTAGTTGTTTATCAAGTGACATTTAGTTGTTTGGTTTTGGGTTTTCTTTTTTTGATTGCGATTTTTCCTCTGATTAAAAAAATAATAATAAAATAAAAAAAGGTTAACTATAAGGAGATGGCCTTTCCTCCTTTTTTTTCTTAAGGTGCTGTTTTGGGGGAAAAAAATGTAATGAAATGACCAAAAGAATTACACAGCATTAATTAAAAATGGAAGTTTTCCACTTCCTTGATAATTTGGCTATCTGAATAAATTTGTGAATTTGCTAGGTTAAGACCTAGTTCGTGGTCACATTTCAACAAAACAGCTTGAGTATAAAGAAAATAATAAAAGGCTGTTCTTATTTATTTTCCTTTGGTGGCTTTTGGTTTGCTCTTTTTGCATAGGTCATGACTTTGTTCTCCTGGGTCCAGATTTATAAAAGCAGAAAATTACTAATTAAGTCAAAATAAGTGTCTTTGGTGTTTATGCATTTGCAATTTCAGTAATTAAATGGTACATGTGTTGCTGTCTTGTCTAAAACTTTTAAAGGCAGAATTATGCTGTTGGGATATTAGTATGCGTATAACTTGATTT
|
benign
| 315,115 |
Considering the variant on chromosome 20, location 58891722, involving gene GNAS (GNAS complex locus), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Disorders_of_GNAS_Inactivation']
|
TCATCCTTTTTGGCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCGAGAAGAAGCTGCTGGAGCAGAGGCGAAAGGAGGAGAAGAAGAAGGAGAAGGAGAGGAAGAAGATGGAGAAGATGCTGAAGAAGAAGAAGAAGAAGGTGCCAGAAGCCCAGGAGGAGGCCCGATGCCCCGAGGCCGCCGCCGCCGCGGCCGCCGCCGACGACGACGAGGGCGCCGAGGAGGGCGCCGTCGGGGGCGCCGAGGAGGGCGCCGCCGCCGGGGGCACGAGTAGGGCCTGGGCTGACTGGGACACGGACTCGAGCGACGAGGACGACGCCTACTACGCGGCGCCGCGCGTTGGGGGCATCGTGTGGCGGCCCGGGCCGCTCAAGGCTGGCGCGCTGAGCGCCCACCTGCCCCTCGTGGTGTTCCTGGTCTTCTCGGTGCGCAGCCCCTCGTGGGTGCTCAACTTCCTGCTGCAGAAGCGCACGGAGCAGGGCCGCGGCTGCGGCTTCGTGTTCGGGGCGACCTGCTGCTTCCGAGTGTTCCTGGGCTGCGCCTTCTTCTCCTACTTGGGCGGCCGCGCCAAGCGCAGAGGCCGCGGGCGCTCCGGGGCCAGAGGCGCCTTCGGCTCGGGCCATGGCGCCCGGCGCCGGGGGCGCGAGGAGCGGCTCATCTAGTCAGACCCCCCACCCCGCCACCGCCACCAGACACCACCATCGCTGTGTAGTGTGGGTTTTTATTCGTGTTCGTGTGTGTGTGTGGACACATTTTCCTTTTCGGTTGCTCTGTCCTTTGGTTCGTGCTCGCCTCGCTTTTTCCACACTCCTGCTCTCTGGCTCTCTGTGTCTCTCGCTCTTTCGAAAATTTTCCTAAGTCCGGGCGCGCGCTCCCTCCCCTTCCGCCCACCCCAGCCCCTCGGCGGCGCCCGCGGGAGGGGGAGGAGGCCTCGGGGGCGCCGGGCGACGCGGTCCGGGGGGTGGAGCGTTGGCGTCGTGCGAGGGGTCGTCACTGGCGCGGAGACGCCCCCTCTCCCCCCTCGGCTCAGCCGGGCTGCTGCCCGAGCCCGGGGGGTGGGGGGCGTCTCCCCGGCCCGTCCCGTCCCCGGCCGGGCGCGGGCGGAGGGACCCCCTCCCCGGGCTCCCGGGGGGCCGCCTCCCTCCGCCGGCTCCCGCCCTCCCAGCCGCCGCCGCCGCCGCGGCCGCTCCTCGGCCCTCCTCCTCCTCCTCCTCCTTCCACCCCCCTCGCCGCCGCCGCCTCCTCCTCCCCCCGCCTCCCCCCGCCCGCCGCGGCGCTTTTGGCTCGGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGCGGCGGCGGCGGCAGCGGCGGCAGCAGCTCCCGCAGCTCCTGCTCTGGTCCGCCTCGGCCCGGCGGCGGCCATCAGCCCCCTCGGCCTCGGCTCGAGGGGCGGGGAGCTGCGCGCGCCCCTCGGTCCGACCGACACCCTCCCCTTCCCGCCCGTCCGCGCGCCCCGCGGCCCGCGGCCCGCAGTCCGCCCCGCGCGCTCCTTGCCGAGGAGCCGAGCCCGCGCCCGGCCCGCCCGCCCGGCGCTGCCCCGGCCCTCCCGGCCCGCGTGAGGCCGCCCGCGCCCGCCGCCGCCGCAGCCCGGCCGCGCCCCGCCGCCGCCGCCGCCGCCATGGGCTGCCTCGGGAACAGTAAGACCGAGGACCAGCGCAACGAGGAGAAGGCGCAGCGTGAGGCCAACAAAAAGATCGAGAAGCAGCTGCAGAAGGACAAGCAGGTCTACCGGGCCACGCACCGCCTGCTGCTGCTGGGTAAGGGCGGGCGGGGGGCGCCGGCCCCGGCCCGGGGGCCCTCGAAGGGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCCCGCCCCGGGCGCGCGCTCCCGAGCCCCCCGCCCGTTCGCGGGCTCTGTCTGTGGGGGGCGAGGCCGGAAGGGGGACCCAGGGGCGCGGATTCGGCCGGGCGGGGGCTCAAAAACGGGGCGGGGGGCCGTGGCGACGCGGGCGCGGGTCCCCCTCCCCCGGCCTGCCCGCTCAGTGTCTCTCTCTTGCTCTCGCTCTCGCTCTCCCCCTCTTTCTCTCTTTCTCTCTTTTTCCGCGAGGCCTACACGACGCCAGGGGTTTGGGTGCGTGTTGGGGAGGGGGAGGGGGAGCCCATGGGGCTCCGGAGACTGCGACAAAAAGAGGGTTTCGGGGACAGGAAACCGGGTGGCGGGTAGAGGGAGGGGGACCCGCCTCCGTGGGGTGTGAGATTTGTTGGGAGAGGGAAAGAGGGGAAGAAAGGGGCGAGGAGAGGAGGGGGTGACGCTGGGGGGCGCCGTGGTGGCGGAGGGGGCCTCGCCAAAGGGAGGCTTTGGCGGGGAGAAGTGGCCGAGGAGAGTGGGGGGGCTGGTGACATCAGCCCCTCGGAAAGGATCGGAGCGGTAAAGGTGGTGCAGTGGGGGGGAGGGGGCGCAAGGGAGTCGTGGCGCCGGAGTCGGGAGGGGGGCGGCGAGGGGAGGAGGGAGGGCGGTTGCCGCTGGGCGCGACTTGGTGCGTTTCGGGCAGGACCGACTGACTGTGTGTGCGCGGAGCAGACGTGTCCCGGGCCAGGCCGGGCCGTGGAAGGAGGAGAAGGAGAGTCAAATAAAATAAGACCACCCCCCAACACCAAAAAATGGATAGAGTTAGTACGAGAAGTGCCCAGTGAAGCCAAATGACACGTCATTTTACAGTGTGACCTTTTTTTCCCCTTCCAGACTTGCAGGCTTTTTCAAAAGCAGAGCGGAGAATTAATTGTAGCAGCTGCCCCCCCCACCCACCACGAGCAGCGCCCCCCCAACACTATTTTAATAAACCATTAAAAAAAACACATTTTCCTGCTGGCTGGCCACATTGAGAGTGCTTTGTGAAAAGAAAAAACAAAGACATTCACAAATCAGATAAAACTGGAGAATGACATTTGTCTGTAAATGGCTTCTTGGTCTGGAAATGGCGTGGTTTCTTTTTTTTTTTTTTTTTTTTTTTGTCCTCCTCAAGGTGGGAGGGGGGATTGAGAGTGCTCTAAGGAGACTTTTCCTCCAGGTGGGAAGAGATAAAAAGACATTAATTAGTTGTTTATCAAGTGACATTTAGTTGTTTGGTTTTGGGTTTTCTTTTTTTGATTGCGATTTTTCCTCTGATTAAAAAAATAATAATAAAATAAAAAAAGGTTAACTATAAGGAGATGGCCTTTCCTCCTTTTTTTTCTTAAGGTGCTGTTTTGGGGGAAAAAAATGTAATGAAATGACCAAAAGAATTACACAGCATTAATTAAAAATGGAAGTTTTCCACTTCCTTGATAATTTGGCTATCTGAATAAATTTGTGAATTTGCTAGGTTAAGACCTAGTTCGTGGTCACATTTCAACAAAACAGCTTGAGTATAAAGAAAATAATAAAAGGCTGTTCTTATTTATTTTCCTTTGGTGGCTTTTGGTTTGCTCTTTTTGCATAGGTCATGACTTTGTTCTCCTGGGTCCAGATTTATAAAAGCAGAAAATTACTAATTAAGTCAAAATAAGTGTCTTTGGTGTTTATGCATTTGCAATTTCAGTAATTAAATGGTACATGTGTTGCTGTCTTGTCTAAAACTTTTAAAGGCAGAATTATGCTGTTGGGATATTAGTATGCGTATAACTTGATTTCAAAGTATAAATCTGGAAAAGT
|
TCATCCTTTTTGGCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCGAGAAGAAGCTGCTGGAGCAGAGGCGAAAGGAGGAGAAGAAGAAGGAGAAGGAGAGGAAGAAGATGGAGAAGATGCTGAAGAAGAAGAAGAAGAAGGTGCCAGAAGCCCAGGAGGAGGCCCGATGCCCCGAGGCCGCCGCCGCCGCGGCCGCCGCCGACGACGACGAGGGCGCCGAGGAGGGCGCCGTCGGGGGCGCCGAGGAGGGCGCCGCCGCCGGGGGCACGAGTAGGGCCTGGGCTGACTGGGACACGGACTCGAGCGACGAGGACGACGCCTACTACGCGGCGCCGCGCGTTGGGGGCATCGTGTGGCGGCCCGGGCCGCTCAAGGCTGGCGCGCTGAGCGCCCACCTGCCCCTCGTGGTGTTCCTGGTCTTCTCGGTGCGCAGCCCCTCGTGGGTGCTCAACTTCCTGCTGCAGAAGCGCACGGAGCAGGGCCGCGGCTGCGGCTTCGTGTTCGGGGCGACCTGCTGCTTCCGAGTGTTCCTGGGCTGCGCCTTCTTCTCCTACTTGGGCGGCCGCGCCAAGCGCAGAGGCCGCGGGCGCTCCGGGGCCAGAGGCGCCTTCGGCTCGGGCCATGGCGCCCGGCGCCGGGGGCGCGAGGAGCGGCTCATCTAGTCAGACCCCCCACCCCGCCACCGCCACCAGACACCACCATCGCTGTGTAGTGTGGGTTTTTATTCGTGTTCGTGTGTGTGTGTGGACACATTTTCCTTTTCGGTTGCTCTGTCCTTTGGTTCGTGCTCGCCTCGCTTTTTCCACACTCCTGCTCTCTGGCTCTCTGTGTCTCTCGCTCTTTCGAAAATTTTCCTAAGTCCGGGCGCGCGCTCCCTCCCCTTCCGCCCACCCCAGCCCCTCGGCGGCGCCCGCGGGAGGGGGAGGAGGCCTCGGGGGCGCCGGGCGACGCGGTCCGGGGGGTGGAGCGTTGGCGTCGTGCGAGGGGTCGTCACTGGCGCGGAGACGCCCCCTCTCCCCCCTCGGCTCAGCCGGGCTGCTGCCCGAGCCCGGGGGGTGGGGGGCGTCTCCCCGGCCCGTCCCGTCCCCGGCCGGGCGCGGGCGGAGGGACCCCCTCCCCGGGCTCCCGGGGGGCCGCCTCCCTCCGCCGGCTCCCGCCCTCCCAGCCGCCGCCGCCGCCGCGGCCGCTCCTCGGCCCTCCTCCTCCTCCTCCTCCTTCCACCCCCCTCGCCGCCGCCGCCTCCTCCTCCCCCCGCCTCCCCCCGCCCGCCGCGGCGCTTTTGGCTCGGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGCGGCGGCGGCGGCAGCGGCGGCAGCAGCTCCCGCAGCTCCTGCTCTGGTCCGCCTCGGCCCGGCGGCGGCCATCAGCCCCCTCGGCCTCGGCTCGAGGGGCGGGGAGCTGCGCGCGCCCCTCGGTCCGACCGACACCCTCCCCTTCCCGCCCGTCCGCGCGCCCCGCGGCCCGCGGCCCGCAGTCCGCCCCGCGCGCTCCTTGCCGAGGAGCCGAGCCCGCGCCCGGCCCGCCCGCCCGGCGCTGCCCCGGCCCTCCCGGCCCGCGTGAGGCCGCCCGCGCCCGCCGCCGCCGCAGCCCGGCCGCGCCCCGCCGCCGCCGCCGCGGGCTGCCTCGGGAACAGTAAGACCGAGGACCAGCGCAACGAGGAGAAGGCGCAGCGTGAGGCCAACAAAAAGATCGAGAAGCAGCTGCAGAAGGACAAGCAGGTCTACCGGGCCACGCACCGCCTGCTGCTGCTGGGTAAGGGCGGGCGGGGGGCGCCGGCCCCGGCCCGGGGGCCCTCGAAGGGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCCCGCCCCGGGCGCGCGCTCCCGAGCCCCCCGCCCGTTCGCGGGCTCTGTCTGTGGGGGGCGAGGCCGGAAGGGGGACCCAGGGGCGCGGATTCGGCCGGGCGGGGGCTCAAAAACGGGGCGGGGGGCCGTGGCGACGCGGGCGCGGGTCCCCCTCCCCCGGCCTGCCCGCTCAGTGTCTCTCTCTTGCTCTCGCTCTCGCTCTCCCCCTCTTTCTCTCTTTCTCTCTTTTTCCGCGAGGCCTACACGACGCCAGGGGTTTGGGTGCGTGTTGGGGAGGGGGAGGGGGAGCCCATGGGGCTCCGGAGACTGCGACAAAAAGAGGGTTTCGGGGACAGGAAACCGGGTGGCGGGTAGAGGGAGGGGGACCCGCCTCCGTGGGGTGTGAGATTTGTTGGGAGAGGGAAAGAGGGGAAGAAAGGGGCGAGGAGAGGAGGGGGTGACGCTGGGGGGCGCCGTGGTGGCGGAGGGGGCCTCGCCAAAGGGAGGCTTTGGCGGGGAGAAGTGGCCGAGGAGAGTGGGGGGGCTGGTGACATCAGCCCCTCGGAAAGGATCGGAGCGGTAAAGGTGGTGCAGTGGGGGGGAGGGGGCGCAAGGGAGTCGTGGCGCCGGAGTCGGGAGGGGGGCGGCGAGGGGAGGAGGGAGGGCGGTTGCCGCTGGGCGCGACTTGGTGCGTTTCGGGCAGGACCGACTGACTGTGTGTGCGCGGAGCAGACGTGTCCCGGGCCAGGCCGGGCCGTGGAAGGAGGAGAAGGAGAGTCAAATAAAATAAGACCACCCCCCAACACCAAAAAATGGATAGAGTTAGTACGAGAAGTGCCCAGTGAAGCCAAATGACACGTCATTTTACAGTGTGACCTTTTTTTCCCCTTCCAGACTTGCAGGCTTTTTCAAAAGCAGAGCGGAGAATTAATTGTAGCAGCTGCCCCCCCCACCCACCACGAGCAGCGCCCCCCCAACACTATTTTAATAAACCATTAAAAAAAACACATTTTCCTGCTGGCTGGCCACATTGAGAGTGCTTTGTGAAAAGAAAAAACAAAGACATTCACAAATCAGATAAAACTGGAGAATGACATTTGTCTGTAAATGGCTTCTTGGTCTGGAAATGGCGTGGTTTCTTTTTTTTTTTTTTTTTTTTTTTGTCCTCCTCAAGGTGGGAGGGGGGATTGAGAGTGCTCTAAGGAGACTTTTCCTCCAGGTGGGAAGAGATAAAAAGACATTAATTAGTTGTTTATCAAGTGACATTTAGTTGTTTGGTTTTGGGTTTTCTTTTTTTGATTGCGATTTTTCCTCTGATTAAAAAAATAATAATAAAATAAAAAAAGGTTAACTATAAGGAGATGGCCTTTCCTCCTTTTTTTTCTTAAGGTGCTGTTTTGGGGGAAAAAAATGTAATGAAATGACCAAAAGAATTACACAGCATTAATTAAAAATGGAAGTTTTCCACTTCCTTGATAATTTGGCTATCTGAATAAATTTGTGAATTTGCTAGGTTAAGACCTAGTTCGTGGTCACATTTCAACAAAACAGCTTGAGTATAAAGAAAATAATAAAAGGCTGTTCTTATTTATTTTCCTTTGGTGGCTTTTGGTTTGCTCTTTTTGCATAGGTCATGACTTTGTTCTCCTGGGTCCAGATTTATAAAAGCAGAAAATTACTAATTAAGTCAAAATAAGTGTCTTTGGTGTTTATGCATTTGCAATTTCAGTAATTAAATGGTACATGTGTTGCTGTCTTGTCTAAAACTTTTAAAGGCAGAATTATGCTGTTGGGATATTAGTATGCGTATAACTTGATTTCAAAGTATAAATCTGGAAAAGTNNNNNN
|
pathogenic
| 315,116 |
Evaluate if the mutation on chromosome 20 at position 58891852 in GNAS (GNAS complex locus) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['GNAS-related_disorder', 'Pseudohypoparathyroidism_type_I_A']
|
CGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCGAGAAGAAGCTGCTGGAGCAGAGGCGAAAGGAGGAGAAGAAGAAGGAGAAGGAGAGGAAGAAGATGGAGAAGATGCTGAAGAAGAAGAAGAAGAAGGTGCCAGAAGCCCAGGAGGAGGCCCGATGCCCCGAGGCCGCCGCCGCCGCGGCCGCCGCCGACGACGACGAGGGCGCCGAGGAGGGCGCCGTCGGGGGCGCCGAGGAGGGCGCCGCCGCCGGGGGCACGAGTAGGGCCTGGGCTGACTGGGACACGGACTCGAGCGACGAGGACGACGCCTACTACGCGGCGCCGCGCGTTGGGGGCATCGTGTGGCGGCCCGGGCCGCTCAAGGCTGGCGCGCTGAGCGCCCACCTGCCCCTCGTGGTGTTCCTGGTCTTCTCGGTGCGCAGCCCCTCGTGGGTGCTCAACTTCCTGCTGCAGAAGCGCACGGAGCAGGGCCGCGGCTGCGGCTTCGTGTTCGGGGCGACCTGCTGCTTCCGAGTGTTCCTGGGCTGCGCCTTCTTCTCCTACTTGGGCGGCCGCGCCAAGCGCAGAGGCCGCGGGCGCTCCGGGGCCAGAGGCGCCTTCGGCTCGGGCCATGGCGCCCGGCGCCGGGGGCGCGAGGAGCGGCTCATCTAGTCAGACCCCCCACCCCGCCACCGCCACCAGACACCACCATCGCTGTGTAGTGTGGGTTTTTATTCGTGTTCGTGTGTGTGTGTGGACACATTTTCCTTTTCGGTTGCTCTGTCCTTTGGTTCGTGCTCGCCTCGCTTTTTCCACACTCCTGCTCTCTGGCTCTCTGTGTCTCTCGCTCTTTCGAAAATTTTCCTAAGTCCGGGCGCGCGCTCCCTCCCCTTCCGCCCACCCCAGCCCCTCGGCGGCGCCCGCGGGAGGGGGAGGAGGCCTCGGGGGCGCCGGGCGACGCGGTCCGGGGGGTGGAGCGTTGGCGTCGTGCGAGGGGTCGTCACTGGCGCGGAGACGCCCCCTCTCCCCCCTCGGCTCAGCCGGGCTGCTGCCCGAGCCCGGGGGGTGGGGGGCGTCTCCCCGGCCCGTCCCGTCCCCGGCCGGGCGCGGGCGGAGGGACCCCCTCCCCGGGCTCCCGGGGGGCCGCCTCCCTCCGCCGGCTCCCGCCCTCCCAGCCGCCGCCGCCGCCGCGGCCGCTCCTCGGCCCTCCTCCTCCTCCTCCTCCTTCCACCCCCCTCGCCGCCGCCGCCTCCTCCTCCCCCCGCCTCCCCCCGCCCGCCGCGGCGCTTTTGGCTCGGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGCGGCGGCGGCGGCAGCGGCGGCAGCAGCTCCCGCAGCTCCTGCTCTGGTCCGCCTCGGCCCGGCGGCGGCCATCAGCCCCCTCGGCCTCGGCTCGAGGGGCGGGGAGCTGCGCGCGCCCCTCGGTCCGACCGACACCCTCCCCTTCCCGCCCGTCCGCGCGCCCCGCGGCCCGCGGCCCGCAGTCCGCCCCGCGCGCTCCTTGCCGAGGAGCCGAGCCCGCGCCCGGCCCGCCCGCCCGGCGCTGCCCCGGCCCTCCCGGCCCGCGTGAGGCCGCCCGCGCCCGCCGCCGCCGCAGCCCGGCCGCGCCCCGCCGCCGCCGCCGCCGCCATGGGCTGCCTCGGGAACAGTAAGACCGAGGACCAGCGCAACGAGGAGAAGGCGCAGCGTGAGGCCAACAAAAAGATCGAGAAGCAGCTGCAGAAGGACAAGCAGGTCTACCGGGCCACGCACCGCCTGCTGCTGCTGGGTAAGGGCGGGCGGGGGGCGCCGGCCCCGGCCCGGGGGCCCTCGAAGGGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCCCGCCCCGGGCGCGCGCTCCCGAGCCCCCCGCCCGTTCGCGGGCTCTGTCTGTGGGGGGCGAGGCCGGAAGGGGGACCCAGGGGCGCGGATTCGGCCGGGCGGGGGCTCAAAAACGGGGCGGGGGGCCGTGGCGACGCGGGCGCGGGTCCCCCTCCCCCGGCCTGCCCGCTCAGTGTCTCTCTCTTGCTCTCGCTCTCGCTCTCCCCCTCTTTCTCTCTTTCTCTCTTTTTCCGCGAGGCCTACACGACGCCAGGGGTTTGGGTGCGTGTTGGGGAGGGGGAGGGGGAGCCCATGGGGCTCCGGAGACTGCGACAAAAAGAGGGTTTCGGGGACAGGAAACCGGGTGGCGGGTAGAGGGAGGGGGACCCGCCTCCGTGGGGTGTGAGATTTGTTGGGAGAGGGAAAGAGGGGAAGAAAGGGGCGAGGAGAGGAGGGGGTGACGCTGGGGGGCGCCGTGGTGGCGGAGGGGGCCTCGCCAAAGGGAGGCTTTGGCGGGGAGAAGTGGCCGAGGAGAGTGGGGGGGCTGGTGACATCAGCCCCTCGGAAAGGATCGGAGCGGTAAAGGTGGTGCAGTGGGGGGGAGGGGGCGCAAGGGAGTCGTGGCGCCGGAGTCGGGAGGGGGGCGGCGAGGGGAGGAGGGAGGGCGGTTGCCGCTGGGCGCGACTTGGTGCGTTTCGGGCAGGACCGACTGACTGTGTGTGCGCGGAGCAGACGTGTCCCGGGCCAGGCCGGGCCGTGGAAGGAGGAGAAGGAGAGTCAAATAAAATAAGACCACCCCCCAACACCAAAAAATGGATAGAGTTAGTACGAGAAGTGCCCAGTGAAGCCAAATGACACGTCATTTTACAGTGTGACCTTTTTTTCCCCTTCCAGACTTGCAGGCTTTTTCAAAAGCAGAGCGGAGAATTAATTGTAGCAGCTGCCCCCCCCACCCACCACGAGCAGCGCCCCCCCAACACTATTTTAATAAACCATTAAAAAAAACACATTTTCCTGCTGGCTGGCCACATTGAGAGTGCTTTGTGAAAAGAAAAAACAAAGACATTCACAAATCAGATAAAACTGGAGAATGACATTTGTCTGTAAATGGCTTCTTGGTCTGGAAATGGCGTGGTTTCTTTTTTTTTTTTTTTTTTTTTTTGTCCTCCTCAAGGTGGGAGGGGGGATTGAGAGTGCTCTAAGGAGACTTTTCCTCCAGGTGGGAAGAGATAAAAAGACATTAATTAGTTGTTTATCAAGTGACATTTAGTTGTTTGGTTTTGGGTTTTCTTTTTTTGATTGCGATTTTTCCTCTGATTAAAAAAATAATAATAAAATAAAAAAAGGTTAACTATAAGGAGATGGCCTTTCCTCCTTTTTTTTCTTAAGGTGCTGTTTTGGGGGAAAAAAATGTAATGAAATGACCAAAAGAATTACACAGCATTAATTAAAAATGGAAGTTTTCCACTTCCTTGATAATTTGGCTATCTGAATAAATTTGTGAATTTGCTAGGTTAAGACCTAGTTCGTGGTCACATTTCAACAAAACAGCTTGAGTATAAAGAAAATAATAAAAGGCTGTTCTTATTTATTTTCCTTTGGTGGCTTTTGGTTTGCTCTTTTTGCATAGGTCATGACTTTGTTCTCCTGGGTCCAGATTTATAAAAGCAGAAAATTACTAATTAAGTCAAAATAAGTGTCTTTGGTGTTTATGCATTTGCAATTTCAGTAATTAAATGGTACATGTGTTGCTGTCTTGTCTAAAACTTTTAAAGGCAGAATTATGCTGTTGGGATATTAGTATGCGTATAACTTGATTTCAAAGTATAAATCTGGAAAAGTCTAGAATCTTTTCTGTGAATGCTATCTCAGTACTACTTTAAGTCAAGTGTGATGCTAATGATATCTTAAAATTTCCAACACCTTTTGTGCAGTGATCACAAAGTCTCCACTTAATTTGAGACTGTTACTC
|
CGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCGAGAAGAAGCTGCTGGAGCAGAGGCGAAAGGAGGAGAAGAAGAAGGAGAAGGAGAGGAAGAAGATGGAGAAGATGCTGAAGAAGAAGAAGAAGAAGGTGCCAGAAGCCCAGGAGGAGGCCCGATGCCCCGAGGCCGCCGCCGCCGCGGCCGCCGCCGACGACGACGAGGGCGCCGAGGAGGGCGCCGTCGGGGGCGCCGAGGAGGGCGCCGCCGCCGGGGGCACGAGTAGGGCCTGGGCTGACTGGGACACGGACTCGAGCGACGAGGACGACGCCTACTACGCGGCGCCGCGCGTTGGGGGCATCGTGTGGCGGCCCGGGCCGCTCAAGGCTGGCGCGCTGAGCGCCCACCTGCCCCTCGTGGTGTTCCTGGTCTTCTCGGTGCGCAGCCCCTCGTGGGTGCTCAACTTCCTGCTGCAGAAGCGCACGGAGCAGGGCCGCGGCTGCGGCTTCGTGTTCGGGGCGACCTGCTGCTTCCGAGTGTTCCTGGGCTGCGCCTTCTTCTCCTACTTGGGCGGCCGCGCCAAGCGCAGAGGCCGCGGGCGCTCCGGGGCCAGAGGCGCCTTCGGCTCGGGCCATGGCGCCCGGCGCCGGGGGCGCGAGGAGCGGCTCATCTAGTCAGACCCCCCACCCCGCCACCGCCACCAGACACCACCATCGCTGTGTAGTGTGGGTTTTTATTCGTGTTCGTGTGTGTGTGTGGACACATTTTCCTTTTCGGTTGCTCTGTCCTTTGGTTCGTGCTCGCCTCGCTTTTTCCACACTCCTGCTCTCTGGCTCTCTGTGTCTCTCGCTCTTTCGAAAATTTTCCTAAGTCCGGGCGCGCGCTCCCTCCCCTTCCGCCCACCCCAGCCCCTCGGCGGCGCCCGCGGGAGGGGGAGGAGGCCTCGGGGGCGCCGGGCGACGCGGTCCGGGGGGTGGAGCGTTGGCGTCGTGCGAGGGGTCGTCACTGGCGCGGAGACGCCCCCTCTCCCCCCTCGGCTCAGCCGGGCTGCTGCCCGAGCCCGGGGGGTGGGGGGCGTCTCCCCGGCCCGTCCCGTCCCCGGCCGGGCGCGGGCGGAGGGACCCCCTCCCCGGGCTCCCGGGGGGCCGCCTCCCTCCGCCGGCTCCCGCCCTCCCAGCCGCCGCCGCCGCCGCGGCCGCTCCTCGGCCCTCCTCCTCCTCCTCCTCCTTCCACCCCCCTCGCCGCCGCCGCCTCCTCCTCCCCCCGCCTCCCCCCGCCCGCCGCGGCGCTTTTGGCTCGGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGCGGCGGCGGCGGCAGCGGCGGCAGCAGCTCCCGCAGCTCCTGCTCTGGTCCGCCTCGGCCCGGCGGCGGCCATCAGCCCCCTCGGCCTCGGCTCGAGGGGCGGGGAGCTGCGCGCGCCCCTCGGTCCGACCGACACCCTCCCCTTCCCGCCCGTCCGCGCGCCCCGCGGCCCGCGGCCCGCAGTCCGCCCCGCGCGCTCCTTGCCGAGGAGCCGAGCCCGCGCCCGGCCCGCCCGCCCGGCGCTGCCCCGGCCCTCCCGGCCCGCGTGAGGCCGCCCGCGCCCGCCGCCGCCGCAGCCCGGCCGCGCCCCGCCGCCGCCGCCGCCGCCATGGGCTGCCTCGGGAACAGTAAGACCGAGGACCAGCGCAACGAGGAGAAGGCGCAGCGTGAGGCCAACAAAAAGATCGAGAAGCAGCTGCAGAAGGACAAGCAGGTCTACCGGGCCACGCACCGCCTGCTGCTGCTGCTGGGTAAGGGCGGGCGGGGGGCGCCGGCCCCGGCCCGGGGGCCCTCGAAGGGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCCCGCCCCGGGCGCGCGCTCCCGAGCCCCCCGCCCGTTCGCGGGCTCTGTCTGTGGGGGGCGAGGCCGGAAGGGGGACCCAGGGGCGCGGATTCGGCCGGGCGGGGGCTCAAAAACGGGGCGGGGGGCCGTGGCGACGCGGGCGCGGGTCCCCCTCCCCCGGCCTGCCCGCTCAGTGTCTCTCTCTTGCTCTCGCTCTCGCTCTCCCCCTCTTTCTCTCTTTCTCTCTTTTTCCGCGAGGCCTACACGACGCCAGGGGTTTGGGTGCGTGTTGGGGAGGGGGAGGGGGAGCCCATGGGGCTCCGGAGACTGCGACAAAAAGAGGGTTTCGGGGACAGGAAACCGGGTGGCGGGTAGAGGGAGGGGGACCCGCCTCCGTGGGGTGTGAGATTTGTTGGGAGAGGGAAAGAGGGGAAGAAAGGGGCGAGGAGAGGAGGGGGTGACGCTGGGGGGCGCCGTGGTGGCGGAGGGGGCCTCGCCAAAGGGAGGCTTTGGCGGGGAGAAGTGGCCGAGGAGAGTGGGGGGGCTGGTGACATCAGCCCCTCGGAAAGGATCGGAGCGGTAAAGGTGGTGCAGTGGGGGGGAGGGGGCGCAAGGGAGTCGTGGCGCCGGAGTCGGGAGGGGGGCGGCGAGGGGAGGAGGGAGGGCGGTTGCCGCTGGGCGCGACTTGGTGCGTTTCGGGCAGGACCGACTGACTGTGTGTGCGCGGAGCAGACGTGTCCCGGGCCAGGCCGGGCCGTGGAAGGAGGAGAAGGAGAGTCAAATAAAATAAGACCACCCCCCAACACCAAAAAATGGATAGAGTTAGTACGAGAAGTGCCCAGTGAAGCCAAATGACACGTCATTTTACAGTGTGACCTTTTTTTCCCCTTCCAGACTTGCAGGCTTTTTCAAAAGCAGAGCGGAGAATTAATTGTAGCAGCTGCCCCCCCCACCCACCACGAGCAGCGCCCCCCCAACACTATTTTAATAAACCATTAAAAAAAACACATTTTCCTGCTGGCTGGCCACATTGAGAGTGCTTTGTGAAAAGAAAAAACAAAGACATTCACAAATCAGATAAAACTGGAGAATGACATTTGTCTGTAAATGGCTTCTTGGTCTGGAAATGGCGTGGTTTCTTTTTTTTTTTTTTTTTTTTTTTGTCCTCCTCAAGGTGGGAGGGGGGATTGAGAGTGCTCTAAGGAGACTTTTCCTCCAGGTGGGAAGAGATAAAAAGACATTAATTAGTTGTTTATCAAGTGACATTTAGTTGTTTGGTTTTGGGTTTTCTTTTTTTGATTGCGATTTTTCCTCTGATTAAAAAAATAATAATAAAATAAAAAAAGGTTAACTATAAGGAGATGGCCTTTCCTCCTTTTTTTTCTTAAGGTGCTGTTTTGGGGGAAAAAAATGTAATGAAATGACCAAAAGAATTACACAGCATTAATTAAAAATGGAAGTTTTCCACTTCCTTGATAATTTGGCTATCTGAATAAATTTGTGAATTTGCTAGGTTAAGACCTAGTTCGTGGTCACATTTCAACAAAACAGCTTGAGTATAAAGAAAATAATAAAAGGCTGTTCTTATTTATTTTCCTTTGGTGGCTTTTGGTTTGCTCTTTTTGCATAGGTCATGACTTTGTTCTCCTGGGTCCAGATTTATAAAAGCAGAAAATTACTAATTAAGTCAAAATAAGTGTCTTTGGTGTTTATGCATTTGCAATTTCAGTAATTAAATGGTACATGTGTTGCTGTCTTGTCTAAAACTTTTAAAGGCAGAATTATGCTGTTGGGATATTAGTATGCGTATAACTTGATTTCAAAGTATAAATCTGGAAAAGTCTAGAATCTTTTCTGTGAATGCTATCTCAGTACTACTTTAAGTCAAGTGTGATGCTAATGATATCTTAAAATTTCCAACACCTTTTGTGCAGTGATCACAAAGTCTCCACTTAATTTGAGACTGTTA
|
pathogenic
| 315,130 |
Subsets and Splits
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