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
|
|---|---|---|---|---|---|
The chromosome 22, position 29604033 genetic variant in gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Neurofibromatosis,_type_2']
|
AGTATCTTCACCTGTGGAGTTGGGGGGGTGATGCTAATGTTAGCTAACATTTATGGGGTGATTATTGTTGTTAAAACTCAGTACACCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCCCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAACTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGAGAGCCGAGACCGCCCCATTGTACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAACAAAAAACAAACGAAAAAACACAGTAAATTGTCCCTATTTGACTACTAAGAGCTATTTTAAAATAGAATTTATTATCTAAGTACAGAAAGGTGTAATTATCCCCCCTACACCCGTTAGAACCCTTGATGACACTAAATAAATAATACATGAATACGGTTCAAAAATGGGCATCATAGAGTATAAAATAAAGAATGCTTTCATTTTCAACCCAAATTCAGCAATTTCATAGGATGCCAGGCTCAGCTCTAAAGCCTTATATGTATTCAGTGCGCTGAAATTCAACAACCTCACGAGGTAGGTATAACCAATAATAATTCTAGGCGGGGCGTGGTGGCTCACGCCTGTAATCCTAGCACTTCGGGAGGCCGAGGCGGGCGGATCACCTGAGGTTCGAGACCAGCCTGACGAACATGGAGAAACCCCGTCTCTAATAAAAATACAAAATTAGCCGGGCGTGGTGACGCATACCTGTAATCCCAGCTACTCGGGAGGCTGACGCCGGAAAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCCCAATAATAATAATAATTAATAATAATAATAATAACAATAATAATAATAATTCTAAAGGGAAGCAGAGGGATCTGGCGGGAAAGTGCCAGCAAACCTAACAGGCCTCCACAAGTGTCTTTAAAGTTTCATAGGGGTCGGTATATGTGATTAACTGCCAAAGAAGAATATTCGCCGTGTGTCCGAAACGCAGTCCCCTGGGGCGCCACACTCGGAGCCTACTTGAACCGAAGAGTCCCTCCCTGGGCCAACGAAGGACCCAATTCCCCTCGCCCCGGATCCAGCCTCTAAGTGGTTTCCCGGGTAAGGTCAGCAGAGGTCCGCCGCCTCAACCAGTCTTGTTAGAGTAGGCACAAAAGCATTCAGAGTGACTGCCACTGTAGCCACTCAACGCCGAGCCTAGGCCTGCTTTTTTTGCAGTTAGAGTGAAACTTTCCATTGGTGGAGTCACCCCAAAGGAGGCGGGACGGAGCGGGAAAGTCCTGCCTACCTTGGCCTTCCCAGCCAATCGCAGCATCTATGCGTCAGCCTCCGGTTCGGTTGCGCTGCGCGTAGTGGTCTGGGCGACCTGAGGGCGGGGCCGGGAGCAGGCCCCGGGCTGTGGGGAGGGTGCGCTTCCCGCGGGCGCGCGGAGTGAGGACGGTGACAGCCACGCGCGCGCGTACGCGCCCGATGCAGCGCGGCCCCGTGACCCTAGTCGGCCGCTGAGAGGCGCGCGGAGTCTGGGCCGCTGCCGTCTAGGGGTCCCGTCCCGAGGCGTCCCCGGCATCTCCGGCCCGAATCCCGGAGTGCCGGGTCGCGCCTGCACCGAAGGTCCCGGCTCCTGTGCCCTCCCTGCAGCCGTCAGGGCCCGTCCCCCAACTCCCCTTTCCGCTCAGGCAGGGTCCTCGCGGCCCATGCTGGCCGCTGGGGACCCGCGCAGCCCAGACCGTTCCCGGGCCGGGCAGCCGGCCACCATGGTGGCCCTGAGGCCTGTGCAGCAACTCCAGGGGGGCTAAAGGGCTCAGAGTGCAGGCCGTGGGGCGCGAGGGTCCCGGGCCTGAGCCCCGCGCCATGGCCGGGGCCATCGCTTCCCGCATGAGCTTCAGCTCTCTCAAGAGGAAGCAACCCAAGACGTTCACCGTGAGGATCGTCACCATGGACGCCGAGATGGAGTTCAATTGCGAGGTAACCGGCCGGCAGCCCCGACTGCTGCGGTGACAGTCGAGGTGGAAGCTCGAGAGGTTCTCTTTATATCATCTTATGGGTGTAGCTAGAGACGGGCAGAACCGGAAGGGCCAACTAGGCCCAAAACCTCATGTTAAAGATGATTGCTGCTTTTTTTCATAGGACTTTTGGGTTTTGGCATTTCCTGAAGGTTATTTTCATTCATTGTTATTGGAAGAAGCTGGATGCTCCTGTGATAGAAAATTCAGGATTTCAGTGTCAGGCTTAAGTTAGGCTTACGCTTAAAAGCTTGAAAGTTTATTCTTTCATTAGGTAATATTGTTATGTACCCAGGTATTAGAAGTTGCGTCTTGTTTATTGGAAAGCCAATACTTGTTTCCCTTTTCTAAAGCTTGCATATTCTGGGAAAAAAAACCCTTTGAAGAACGATATAACATCTCATACTTACTTTCCACATAGTTTCCAACATGATGATAACAGCTATCAATTGTTCAGTATTTTCAAAGTGCTAGACATTTGCACATTTAATCCTCAGAACAAACCCATTTATCTAGTAAATGGCAAGGTGGGGTTTTGAACCAAGCTCACAGCCCGTACAGTACTGCTTCTCAAGTAATTTAAGTTCTTGCTGCTAAAAGTGTGGTTTGTGGACCAGCAGCATTGGCAGCAGTAAGCAAGGGTTGGCATGCTTTTTCTGTACAGGACCACATAGTAAATATTTTCAACTTTGTAGACTAGAGAATCTCTGTTGGAGTTATTCAACTCTTCAACTCTACCATTGTAACACAAAAGCAGCCTTAGATAAGATCAGCTTCCAGCATGACAGCTTAAGGAACCCATTCCTCTGTAAAACTGGTGAAAATTCTTTTTTGTTTTGTTTCGTTTTGAGACAGAATCTCACTCTGTCACCGAGGCTGGCATGCAGTAGTGTGATCATGGCTTACTGCAACCCTGACCAACCTCCCTGGCTCAATCAGTCCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACCACAGGCGTGTGCCACCACACCTGGCTAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGAGTGCACCGGGCTAGAGTGCAATGGCGCGATCTTGTCTCACTGCCACCTCCACTTCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTTCCAGGTAGCTGGGATTACAGGCGTGCGCCACCTCGTCTGGCTAATTTTTCTATTTTTAGTAGAGACAGGGTTTCACCATATTGGGCAGGCTGATCTCGAACTCCTGACCTCGTGACCAGCCGACCTGGGCCTCCCAAAGTGGTGGGAAAGTGGTGCGATTACAGATGTGAGCCACCCCGCCCAGCCTCACCTAGCTAATTTTTGTAAAGACAGGGTTTTGCCATGTTGCCCAGGCTGATCTTGAACTCCTGAGCTCAAGCAATCCACTCGCCTTGGCCTCCCAAAGTGATGGGATTACAGATGCAGCCACCACGCCTGGCCCAAAAATTCTTTTTTTAAAATCAACTATTTAAACCCTCCGGCAATGGTCCTGAGGGCAAACAACAAATGAAAAAACACCTATTCAAGAAAATCTACAAATTCGGTAAGAAAGATGAGAGGGTATGGTATTTGAACCAAGATCATTCCCTCCTTACTCACTCCTAGCTTAGTGAGGTGGAGCTTCTACTCCAGACTATTGCAAACTGTAATACCGGGCACTGCTCCCCCAGCTCCCAATCAAATGCTTTCTTCCCAGGAAAAGCAGGACATCAGCATTTCTCATCCTACCTAGAGCTACTTGTTGCTGAGGTTAAAACCTGTGTGAGTGCAATTGAAAGTTGGAGCTCTCTTTTTTTTTCTTTTGAGACGGAGTTTTGCTCTTGTTGCTCAAACTGGAGTGCAATGGTGTGATCTCGCCTCACCGCAGCCTCTGCTTCCCGGGTTCAAGCGATTCTCCCACATCAGCCTCCCA
|
AGTATCTTCACCTGTGGAGTTGGGGGGGTGATGCTAATGTTAGCTAACATTTATGGGGTGATTATTGTTGTTAAAACTCAGTACACCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGAAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCCCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAACTACTGGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGAGAGCCGAGACCGCCCCATTGTACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAACAAAAAACAAACGAAAAAACACAGTAAATTGTCCCTATTTGACTACTAAGAGCTATTTTAAAATAGAATTTATTATCTAAGTACAGAAAGGTGTAATTATCCCCCCTACACCCGTTAGAACCCTTGATGACACTAAATAAATAATACATGAATACGGTTCAAAAATGGGCATCATAGAGTATAAAATAAAGAATGCTTTCATTTTCAACCCAAATTCAGCAATTTCATAGGATGCCAGGCTCAGCTCTAAAGCCTTATATGTATTCAGTGCGCTGAAATTCAACAACCTCACGAGGTAGGTATAACCAATAATAATTCTAGGCGGGGCGTGGTGGCTCACGCCTGTAATCCTAGCACTTCGGGAGGCCGAGGCGGGCGGATCACCTGAGGTTCGAGACCAGCCTGACGAACATGGAGAAACCCCGTCTCTAATAAAAATACAAAATTAGCCGGGCGTGGTGACGCATACCTGTAATCCCAGCTACTCGGGAGGCTGACGCCGGAAAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCCCAATAATAATAATAATTAATAATAATAATAATAACAATAATAATAATAATTCTAAAGGGAAGCAGAGGGATCTGGCGGGAAAGTGCCAGCAAACCTAACAGGCCTCCACAAGTGTCTTTAAAGTTTCATAGGGGTCGGTATATGTGATTAACTGCCAAAGAAGAATATTCGCCGTGTGTCCGAAACGCAGTCCCCTGGGGCGCCACACTCGGAGCCTACTTGAACCGAAGAGTCCCTCCCTGGGCCAACGAAGGACCCAATTCCCCTCGCCCCGGATCCAGCCTCTAAGTGGTTTCCCGGGTAAGGTCAGCAGAGGTCCGCCGCCTCAACCAGTCTTGTTAGAGTAGGCACAAAAGCATTCAGAGTGACTGCCACTGTAGCCACTCAACGCCGAGCCTAGGCCTGCTTTTTTTGCAGTTAGAGTGAAACTTTCCATTGGTGGAGTCACCCCAAAGGAGGCGGGACGGAGCGGGAAAGTCCTGCCTACCTTGGCCTTCCCAGCCAATCGCAGCATCTATGCGTCAGCCTCCGGTTCGGTTGCGCTGCGCGTAGTGGTCTGGGCGACCTGAGGGCGGGGCCGGGAGCAGGCCCCGGGCTGTGGGGAGGGTGCGCTTCCCGCGGGCGCGCGGAGTGAGGACGGTGACAGCCACGCGCGCGCGTACGCGCCCGATGCAGCGCGGCCCCGTGACCCTAGTCGGCCGCTGAGAGGCGCGCGGAGTCTGGGCCGCTGCCGTCTAGGGGTCCCGTCCCGAGGCGTCCCCGGCATCTCCGGCCCGAATCCCGGAGTGCCGGGTCGCGCCTGCACCGAAGGTCCCGGCTCCTGTGCCCTCCCTGCAGCCGTCAGGGCCCGTCCCCCAACTCCCCTTTCCGCTCAGGCAGGGTCCTCGCGGCCCATGCTGGCCGCTGGGGACCCGCGCAGCCCAGACCGTTCCCGGGCCGGGCAGCCGGCCACCATGGTGGCCCTGAGGCCTGTGCAGCAACTCCAGGGGGGCTAAAGGGCTCAGAGTGCAGGCCGTGGGGCGCGAGGGTCCCGGGCCTGAGCCCCGCGCCATGGCCGGGGCCATCGCTTCCCGCATGAGCTTCAGCTCTCAAGAGGAAGCAACCCAAGACGTTCACCGTGAGGATCGTCACCATGGACGCCGAGATGGAGTTCAATTGCGAGGTAACCGGCCGGCAGCCCCGACTGCTGCGGTGACAGTCGAGGTGGAAGCTCGAGAGGTTCTCTTTATATCATCTTATGGGTGTAGCTAGAGACGGGCAGAACCGGAAGGGCCAACTAGGCCCAAAACCTCATGTTAAAGATGATTGCTGCTTTTTTTCATAGGACTTTTGGGTTTTGGCATTTCCTGAAGGTTATTTTCATTCATTGTTATTGGAAGAAGCTGGATGCTCCTGTGATAGAAAATTCAGGATTTCAGTGTCAGGCTTAAGTTAGGCTTACGCTTAAAAGCTTGAAAGTTTATTCTTTCATTAGGTAATATTGTTATGTACCCAGGTATTAGAAGTTGCGTCTTGTTTATTGGAAAGCCAATACTTGTTTCCCTTTTCTAAAGCTTGCATATTCTGGGAAAAAAAACCCTTTGAAGAACGATATAACATCTCATACTTACTTTCCACATAGTTTCCAACATGATGATAACAGCTATCAATTGTTCAGTATTTTCAAAGTGCTAGACATTTGCACATTTAATCCTCAGAACAAACCCATTTATCTAGTAAATGGCAAGGTGGGGTTTTGAACCAAGCTCACAGCCCGTACAGTACTGCTTCTCAAGTAATTTAAGTTCTTGCTGCTAAAAGTGTGGTTTGTGGACCAGCAGCATTGGCAGCAGTAAGCAAGGGTTGGCATGCTTTTTCTGTACAGGACCACATAGTAAATATTTTCAACTTTGTAGACTAGAGAATCTCTGTTGGAGTTATTCAACTCTTCAACTCTACCATTGTAACACAAAAGCAGCCTTAGATAAGATCAGCTTCCAGCATGACAGCTTAAGGAACCCATTCCTCTGTAAAACTGGTGAAAATTCTTTTTTGTTTTGTTTCGTTTTGAGACAGAATCTCACTCTGTCACCGAGGCTGGCATGCAGTAGTGTGATCATGGCTTACTGCAACCCTGACCAACCTCCCTGGCTCAATCAGTCCTCCTGCCTCAGCCTCTCGAGTAGCTGGGACCACAGGCGTGTGCCACCACACCTGGCTAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGAGTGCACCGGGCTAGAGTGCAATGGCGCGATCTTGTCTCACTGCCACCTCCACTTCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTTCCAGGTAGCTGGGATTACAGGCGTGCGCCACCTCGTCTGGCTAATTTTTCTATTTTTAGTAGAGACAGGGTTTCACCATATTGGGCAGGCTGATCTCGAACTCCTGACCTCGTGACCAGCCGACCTGGGCCTCCCAAAGTGGTGGGAAAGTGGTGCGATTACAGATGTGAGCCACCCCGCCCAGCCTCACCTAGCTAATTTTTGTAAAGACAGGGTTTTGCCATGTTGCCCAGGCTGATCTTGAACTCCTGAGCTCAAGCAATCCACTCGCCTTGGCCTCCCAAAGTGATGGGATTACAGATGCAGCCACCACGCCTGGCCCAAAAATTCTTTTTTTAAAATCAACTATTTAAACCCTCCGGCAATGGTCCTGAGGGCAAACAACAAATGAAAAAACACCTATTCAAGAAAATCTACAAATTCGGTAAGAAAGATGAGAGGGTATGGTATTTGAACCAAGATCATTCCCTCCTTACTCACTCCTAGCTTAGTGAGGTGGAGCTTCTACTCCAGACTATTGCAAACTGTAATACCGGGCACTGCTCCCCCAGCTCCCAATCAAATGCTTTCTTCCCAGGAAAAGCAGGACATCAGCATTTCTCATCCTACCTAGAGCTACTTGTTGCTGAGGTTAAAACCTGTGTGAGTGCAATTGAAAGTTGGAGCTCTCTTTTTTTTTCTTTTGAGACGGAGTTTTGCTCTTGTTGCTCAAACTGGAGTGCAATGGTGTGATCTCGCCTCACCGCAGCCTCTGCTTCCCGGGTTCAAGCGATTCTCCCACATCAGCCTCCCANN
|
pathogenic
| 325,256 |
Variant chromosome 22, position 29639200, gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor): benign or pathogenic? Disease(s)?
|
pathogenic; ['Neurofibromatosis,_type_2']
|
GCCTTTCAGTTTATGAATAAAAACTTCATGAATAAAAATTACTGTTATCTTCATATACTTAAAAATAACCAATTTGTGTCTTTTAGAGAGTATTGGGGCTTGTGTTCTTTAGGGAATTTTTTAAAGTCTTTTTGAGGAACACCATAGTCTGACATGAAGTAATCATTAATATGATCTAAGGAATAGAGAGTGCCTGGTCCCCAGGGTGAAAGAATGTCCATTTTGTCCTCAGGATTCTCTGGGGCTTCTGACACATGGCCAAGAAAGCTGGGCTCCTGGCAATTTTAATGTGGCTTGGAAATGAATATTGCCTAAAGGAACTGCCCTCTGCATGGGTTCATATGTTCACACAAGGATACACTTGCTTACTGACCTGCCTACCTAGCCATGAAAGGCAGGCGGGGAGCAGGACCATATGCTTTTGTCAGTAACTCCTAAAAGACACCTGAACTTCAAAGTAAGTCAATGTCTAATTCTTACCCCAAATGATGCCCCCTCCAGTTGCCTACCTGAGCATAATAAATAATGAAAGCTTCCTATTTTTTTTTTTTTTACCAGTTTGACTCAAAGCTTAAGTGTTCGAATTGTGTTCACATATGTACACAGTAATCTAAATAATCACATGGGAATCCCTGCTGGTTGTAAGTTCAATGGTAATTCCCAATGATCATGAGCATCTAAGTGCCACTGGGGGCCACTGTCAGTGAGGGTGTCGTAGACCAGATTTTGAATCTCCTTGGCATTGCCATCTAGAATTTGGGCAGGAGCATGGAGAGTTATGTGTCAAAGACAGCAAAACTTTTTGTATGTTTTTCATGATTCTTAGCAAAGTGAATTTTAATGATAGCTGAGTGTAGGCCAAATGGATATTAGACTGGGGGCATCAGGAGCCGTGGAACTTGCTGCTCAAGGGAAATACATCATGACACATGTTAATGGAGCCTTGTAGCCTGTCACATGGCGTGTTTATGTCTTGAAATTCACTCTGGAGAGCAGATGGTTCAAGCTTTACAGGGGTGAATGGAATTGTTAGAAGATTTAAAGGCAGTGGTTTACAGACTGTGCTTCAAGTATTTTGTGGGGCATCTCTGGAGGTTCCTTGAAACAAAGGGTTGCCATGATGGACACATTTTATTCTGTTGCTCAGTTAATGTTTAGATGACTTCATAATGATCTAGTTCATCATCTCTAAGCTGTATTTTTTTTTTTTTTTTTTAAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGCAGTACAATGACGCAGTCTCGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGTGTCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCTGTGGCCTCCCAGCGTGCTGGGATTATAGGTGTGAGCCACCACGCCCAGCGCTCTAAGCCGTATTCTATCACGGACCTAAATATTGGCAGTAGGCACCAAGAAAAAAGAAATAAAGGAAGATTCCACTACTTCAGATAATTAAAAAACCTTCCACCTACCATAAAGGACAGTGTCCAAGACTGCTGAGTGATACATTTCTAGTTTTTAACTATTCTGTGGCCCTGAGAACATTTATGCCTTAATCCTAGCTCTGCTCACTTCTTGGGGCTATTGATTAATTTGTTTCAGAAACACCATAGGAAGTGAATATTACCTCTTGCTATAGGTGACTTTGTGAATACTTCAAACTGTAAAATCACAACTTTCAGGAAATGTGATAAATTTAGTGGGAAAAAAATTTAATGCACGCCTTGCAAAGGCTTCTTTGAGGGTAGCACAGGAGGAAGTGCCAATATAGTGTGTTTGTCTTTTGCTCTGCAATTCTGCAGGTACTGGATCATGATGTTTCAAAGGAAGAACCAGTCACCTTTCACTTCTTGGCCAAATTTTATCCTGAGAATGCTGAAGAGGAGCTGGTTCAGGAGATCACACAACATTTATTCTTCTTACAGGTACATCAGTCAAGGCTACCCCCCAGTTCTGAGAGAACTTGCCCAGGAGTGGTTGCAGAGTTGGCCTCAGAGTTGACCACAAACACCTTTGTATTGCAAAAATATTCTACCTCTGGAAGGTCAGCCCCTTTGGTTCTGTAATGGAAAAAAGGCTTCAGAACAGAACTATACTTGAGTGATGAAAATTGGTGTCAGATGAAATTGTGAAGGTGTGATGGTGAAGAATGGATACAAGTAGCTACCTAACTTAAAACCTCCTTGAAAATGGGTCCTATTTTCTTCTAGCTAACTTAAAAGTACTCAATAGTTTCAAAGGAAGGCTAAAGAGAGAGTCTTATAAAGCAGTAGTTCTTCCAAAAGTTTAAAATCTGCTCTCATTAAGAGAGGACTGGCCGGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCTGGCTAACATGGTGAAACCCCGTCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGATGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCTTGGGCAACAGAGTGAGGTTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGGACTTCAGCCGGGCGGGTTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACTCCATGTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGATGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAAATTGAGTCACTTCACTCTAGCCTGGGTGACAGAGTGAGACTCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAGAGGACTTCAGAGCTCTAGTGACACTTGGTTTGTCCCCCATATGTGGTACTTCAGACATCGTGCTTCATGCTATGCTGTGTCTCTAATTGTCCTATTTCTTCCTTAATTCCTCATTAGATTGTAAGCCCCTTAAAGGCAAGCCTCATTAAGTACACAGTAGGCATTCCATAAGTAATTGTCCCACCGAATTGAAGAAATTAAGAAATTCACAATTACAGGTTGACCATCCAGAGGCACAGGGAGGGGAACTGGTCTGAGGATGAAAACCTTATCAGTTTCACTTATGTTCTTACTGCAGGTCAGAGTGGCTCCCCAGTTTCATGGCCAGTTGCAGTGATTGGCACTGGGGCTATTTGTGTGCTCAAAGGTTTCAGTAATGTAAAAGATGGCAGTAGGGGCATTAATTACATGATTTCCCAGAGATAGTTGGGTAGTCTGTCACATAGCCCTCCTGTAATTAATTTCAGCCTCAGTATATTGTGGTCAGCAAATATTAAGTTAAATATAATAAAACCCCCTAAATTCTTTTTAAAAAAGGTCTGGGGGGCGTGTGTGTGTGTGTGTGTGTGTGCACGCGCAAAAGAGGTGACAAATTTATTTCTGATGTTTGCAGATCAAAGGGACACTCTTAGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCACCCTGACCAACATGGAGAAACCCCGTCCCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGGGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTCCTTCTCAAAAGAAAAGGGATGTTCTTGCAGTTTTTCTATAGCGTTGCTTTTTCCCCCCTCTCTTTGGAAATGAAACCAAGGGATTAGAAAGTTGCACTGCTTGAGAAACATCTCAGGTTT
|
GCCTTTCAGTTTATGAATAAAAACTTCATGAATAAAAATTACTGTTATCTTCATATACTTAAAAATAACCAATTTGTGTCTTTTAGAGAGTATTGGGGCTTGTGTTCTTTAGGGAATTTTTTAAAGTCTTTTTGAGGAACACCATAGTCTGACATGAAGTAATCATTAATATGATCTAAGGAATAGAGAGTGCCTGGTCCCCAGGGTGAAAGAATGTCCATTTTGTCCTCAGGATTCTCTGGGGCTTCTGACACATGGCCAAGAAAGCTGGGCTCCTGGCAATTTTAATGTGGCTTGGAAATGAATATTGCCTAAAGGAACTGCCCTCTGCATGGGTTCATATGTTCACACAAGGATACACTTGCTTACTGACCTGCCTACCTAGCCATGAAAGGCAGGCGGGGAGCAGGACCATATGCTTTTGTCAGTAACTCCTAAAAGACACCTGAACTTCAAAGTAAGTCAATGTCTAATTCTTACCCCAAATGATGCCCCCTCCAGTTGCCTACCTGAGCATAATAAATAATGAAAGCTTCCTATTTTTTTTTTTTTTACCAGTTTGACTCAAAGCTTAAGTGTTCGAATTGTGTTCACATATGTACACAGTAATCTAAATAATCACATGGGAATCCCTGCTGGTTGTAAGTTCAATGGTAATTCCCAATGATCATGAGCATCTAAGTGCCACTGGGGGCCACTGTCAGTGAGGGTGTCGTAGACCAGATTTTGAATCTCCTTGGCATTGCCATCTAGAATTTGGGCAGGAGCATGGAGAGTTATGTGTCAAAGACAGCAAAACTTTTTGTATGTTTTTCATGATTCTTAGCAAAGTGAATTTTAATGATAGCTGAGTGTAGGCCAAATGGATATTAGACTGGGGGCATCAGGAGCCGTGGAACTTGCTGCTCAAGGGAAATACATCATGACACATGTTAATGGAGCCTTGTAGCCTGTCACATGGCGTGTTTATGTCTTGAAATTCACTCTGGAGAGCAGATGGTTCAAGCTTTACAGGGGTGAATGGAATTGTTAGAAGATTTAAAGGCAGTGGTTTACAGACTGTGCTTCAAGTATTTTGTGGGGCATCTCTGGAGGTTCCTTGAAACAAAGGGTTGCCATGATGGACACATTTTATTCTGTTGCTCAGTTAATGTTTAGATGACTTCATAATGATCTAGTTCATCATCTCTAAGCTGTATTTTTTTTTTTTTTTTTTAAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGCAGTACAATGACGCAGTCTCGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGTGTCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCTGTGGCCTCCCAGCGTGCTGGGATTATAGGTGTGAGCCACCACGCCCAGCGCTCTAAGCCGTATTCTATCACGGACCTAAATATTGGCAGTAGGCACCAAGAAAAAAGAAATAAAGGAAGATTCCACTACTTCAGATAATTAAAAAACCTTCCACCTACCATAAAGGACAGTGTCCAAGACTGCTGAGTGATACATTTCTAGTTTTTAACTATTCTGTGGCCCTGAGAACATTTATGCCTTAATCCTAGCTCTGCTCACTTCTTGGGGCTATTGATTAATTTGTTTCAGAAACACCATAGGAAGTGAATATTACCTCTTGCTATAGGTGACTTTGTGAATACTTCAAACTGTAAAATCACAACTTTCAGGAAATGTGATAAATTTAGTGGGAAAAAAATTTAATGCACGCCTTGCAAAGGCTTCTTTGAGGGTAGCACAGGAGGAAGTGCCAATATAGTGTGTTTGTCTTTTGCTCTGCAATTCTGCAGGTACTGGATCATGATGTTTCAAAGGAAGAACCAGTCACCTTTCACTTCTTGGCCAAATTTTATCCTGAGAATGCTGAAGAGGAGCTGGTTCAGGAGATCACACAACATTTATTCTTACAGGTACATCAGTCAAGGCTACCCCCCAGTTCTGAGAGAACTTGCCCAGGAGTGGTTGCAGAGTTGGCCTCAGAGTTGACCACAAACACCTTTGTATTGCAAAAATATTCTACCTCTGGAAGGTCAGCCCCTTTGGTTCTGTAATGGAAAAAAGGCTTCAGAACAGAACTATACTTGAGTGATGAAAATTGGTGTCAGATGAAATTGTGAAGGTGTGATGGTGAAGAATGGATACAAGTAGCTACCTAACTTAAAACCTCCTTGAAAATGGGTCCTATTTTCTTCTAGCTAACTTAAAAGTACTCAATAGTTTCAAAGGAAGGCTAAAGAGAGAGTCTTATAAAGCAGTAGTTCTTCCAAAAGTTTAAAATCTGCTCTCATTAAGAGAGGACTGGCCGGGCATGGTGGCTCAGGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCTGGCTAACATGGTGAAACCCCGTCTCTACTAAATATACAAAAATTAGCCGGGTGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGATGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCTTGGGCAACAGAGTGAGGTTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGGACTTCAGCCGGGCGGGTTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACTCCATGTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGATGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAAATTGAGTCACTTCACTCTAGCCTGGGTGACAGAGTGAGACTCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAGAGGACTTCAGAGCTCTAGTGACACTTGGTTTGTCCCCCATATGTGGTACTTCAGACATCGTGCTTCATGCTATGCTGTGTCTCTAATTGTCCTATTTCTTCCTTAATTCCTCATTAGATTGTAAGCCCCTTAAAGGCAAGCCTCATTAAGTACACAGTAGGCATTCCATAAGTAATTGTCCCACCGAATTGAAGAAATTAAGAAATTCACAATTACAGGTTGACCATCCAGAGGCACAGGGAGGGGAACTGGTCTGAGGATGAAAACCTTATCAGTTTCACTTATGTTCTTACTGCAGGTCAGAGTGGCTCCCCAGTTTCATGGCCAGTTGCAGTGATTGGCACTGGGGCTATTTGTGTGCTCAAAGGTTTCAGTAATGTAAAAGATGGCAGTAGGGGCATTAATTACATGATTTCCCAGAGATAGTTGGGTAGTCTGTCACATAGCCCTCCTGTAATTAATTTCAGCCTCAGTATATTGTGGTCAGCAAATATTAAGTTAAATATAATAAAACCCCCTAAATTCTTTTTAAAAAAGGTCTGGGGGGCGTGTGTGTGTGTGTGTGTGTGTGCACGCGCAAAAGAGGTGACAAATTTATTTCTGATGTTTGCAGATCAAAGGGACACTCTTAGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCACCCTGACCAACATGGAGAAACCCCGTCCCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGGGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTCCTTCTCAAAAGAAAAGGGATGTTCTTGCAGTTTTTCTATAGCGTTGCTTTTTCCCCCCTCTCTTTGGAAATGAAACCAAGGGATTAGAAAGTTGCACTGCTTGAGAAACATCTCAGGTTTNNN
|
pathogenic
| 325,311 |
Benign or pathogenic: chromosome 22, position 29642268, gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor) variant? Disease(s) if pathogenic?
|
pathogenic; ['NF2-related_disorder', 'Neurofibromatosis,_type_2']
|
GAGGACTTCAGAGCTCTAGTGACACTTGGTTTGTCCCCCATATGTGGTACTTCAGACATCGTGCTTCATGCTATGCTGTGTCTCTAATTGTCCTATTTCTTCCTTAATTCCTCATTAGATTGTAAGCCCCTTAAAGGCAAGCCTCATTAAGTACACAGTAGGCATTCCATAAGTAATTGTCCCACCGAATTGAAGAAATTAAGAAATTCACAATTACAGGTTGACCATCCAGAGGCACAGGGAGGGGAACTGGTCTGAGGATGAAAACCTTATCAGTTTCACTTATGTTCTTACTGCAGGTCAGAGTGGCTCCCCAGTTTCATGGCCAGTTGCAGTGATTGGCACTGGGGCTATTTGTGTGCTCAAAGGTTTCAGTAATGTAAAAGATGGCAGTAGGGGCATTAATTACATGATTTCCCAGAGATAGTTGGGTAGTCTGTCACATAGCCCTCCTGTAATTAATTTCAGCCTCAGTATATTGTGGTCAGCAAATATTAAGTTAAATATAATAAAACCCCCTAAATTCTTTTTAAAAAAGGTCTGGGGGGCGTGTGTGTGTGTGTGTGTGTGTGCACGCGCAAAAGAGGTGACAAATTTATTTCTGATGTTTGCAGATCAAAGGGACACTCTTAGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCACCCTGACCAACATGGAGAAACCCCGTCCCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGGGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTCCTTCTCAAAAGAAAAGGGATGTTCTTGCAGTTTTTCTATAGCGTTGCTTTTTCCCCCCTCTCTTTGGAAATGAAACCAAGGGATTAGAAAGTTGCACTGCTTGAGAAACATCTCAGGTTTCATTTTCTCTCTAAGAATGTAAAATCACTTTTAAAACCTAAGAAGAATTTTTGTGTTTGAACGTAAACACCTAACAATCTCCTAGGTCCCAGAATGTCCTAATGTTATAGAAATGGCTTTCTTGTAAGTACTTGGAAGCACTGCCTGTCTCTTGTGTGACTGACTTGATTTTCCCCATACTGAAATGTTAAGGCATTTTTATGACTGAGCAAGGCAAAATTTACTGCTTTTATGAATCCGGTGACTGTTGACATCTGTGAGAGGAGAGCTGGCTTTCCTGCTGTGTTTATTTCAGTGTCCCCCTGCCACGTCATGCAGTTGTCTTGCTTCTGTGTCTGGAACATCCCAAGTTGCACCATTCTAAGAAAATTAAGTGCAATGAAATATGTTAATTCAACATTATGGCTTAAGAATTATATTTCCTGGACCTCACGTGTACTTAAAAGTTGAATCGATCAAATTTTATTGCTTCCTTTTCCCTTAGAGCAGCACGTTGAGAGTGATGGTTTTTTCTGCAATCATAACTCAGTGGCCTTGGTGACTTTTGTCTTGTGTTAATACTTAAAAGTAGATCCATTTCCTCTGGGGCCATGCATATTCAAAGGGGCTGAGGCTGTAGTCATCCCCAGAGCTGCTCTTGACACTTCTTGAGTTCATAGCGCTCTGTCACACAGCCTCTGTTGTAACTACAGAGACCGTTTTTACTCTTCAGCATTGATCATGAAGAGAAGAGATAAGGGGTTTTTATGCATAGCCGTCATACCAGTAACTTCTGTGACTGAACTCTCCACCTGTCTGCATCAGTAAAAAAAAAATTGTACCCTTTGTCAGAAAATTATTAACAGGCTGCTCTGGCAGCCCTCATTAGAACGCCGTGAGGCCATCTGTTGTGATCAGCCTACACACCTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGTTAATTTGGGTCATGGGATCACTCCTATCTTCTCTTTCTTTGGGTTTTCTGTACTTCAGAGAGACTTGCCCCAGAAAGTGAGATGTTATGGGACTTGTGGACTTGAAGAACCACTGTCACTGTTCCAGTGTTTGTATAATCTTGTGTGTGTATGTGTGTGTGTGTGTATGTGTGTGTGTGGTGTGCAGAAATTATAAGTATCGTTCTAATGAATTAGAATTCATTCTAAGTGAATTCATTCAGAAAGATGAATTTCCTGTGTAATCTCATTATGTACATGTGGTTTATGACATTTACTGGAAAAACCTTTTTTCTTTTTTTTTTTTAAACCATAAACTCAACCATGTGGTACAACCTTTCTATTAGCCAGGAAAAATGAATTTATGGTCTCCAATTTTAGCCAAACATGGCCTTTAGGTCAGAAAGGCCCAGGTCCTCACTCCAAACTCATTTGCAAACAAGCTGCCTTGTGTGTGGACACTACACTACACCTTCAGAGAATGCCCTGCTTCATCTGCCCCTGATTGACATGCTAGCTGTTCATGTGGCTAAGCACTGCAGGTGCTGTGGCCCACCAAGCCCACTTGAGCTGTCTGGTTAGCTGAAAATCGTTCACTTCCGTTAAATCACTATAGACCTTTTTTTTTTTTTTACAAGACCGATGAGAGGGTTAGCCACGGAGTTTCATGTCCCTCAGATTTTTCACTTCAGTCATATATCACCTTCTCTTGGTTCCCCTGATCCCTGCCTTTCACCAGAGCACAAGATGTTGTCCCCAGAATTGGGGCTCCTTGATTACTTGTGTGATTTTATTTTATTTATGTTTTATTTGTATTTTTATAGAGATGGGGTCTCACTATGTTGTCCAGGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTTCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGTCACCATGCCTGGTCTTACTTGTGTGATTTTTTTTTTTTTTTTTATTGATCATTCTTGGGTGTTTCTCACAGAGGGGGCTTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGACTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAATGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACATAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCGTGTCTACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCCCTTTCTATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGACGGGGTGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCATATGGGGCGGCTGCCTGGCGGAGGAGCTCCTCACTTCACAGACGGGGCGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTGGCGGCCGGGCAGAGGCGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCCCA
|
GAGGACTTCAGAGCTCTAGTGACACTTGGTTTGTCCCCCATATGTGGTACTTCAGACATCGTGCTTCATGCTATGCTGTGTCTCTAATTGTCCTATTTCTTCCTTAATTCCTCATTAGATTGTAAGCCCCTTAAAGGCAAGCCTCATTAAGTACACAGTAGGCATTCCATAAGTAATTGTCCCACCGAATTGAAGAAATTAAGAAATTCACAATTACAGGTTGACCATCCAGAGGCACAGGGAGGGGAACTGGTCTGAGGATGAAAACCTTATCAGTTTCACTTATGTTCTTACTGCAGGTCAGAGTGGCTCCCCAGTTTCATGGCCAGTTGCAGTGATTGGCACTGGGGCTATTTGTGTGCTCAAAGGTTTCAGTAATGTAAAAGATGGCAGTAGGGGCATTAATTACATGATTTCCCAGAGATAGTTGGGTAGTCTGTCACATAGCCCTCCTGTAATTAATTTCAGCCTCAGTATATTGTGGTCAGCAAATATTAAGTTAAATATAATAAAACCCCCTAAATTCTTTTTAAAAAAGGTCTGGGGGGCGTGTGTGTGTGTGTGTGTGTGTGCACGCGCAAAAGAGGTGACAAATTTATTTCTGATGTTTGCAGATCAAAGGGACACTCTTAGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCACCCTGACCAACATGGAGAAACCCCGTCCCTACTAAAAATACAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGGGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACCAGAGTGAAACTCCTTCTCAAAAGAAAAGGGATGTTCTTGCAGTTTTTCTATAGCGTTGCTTTTTCCCCCCTCTCTTTGGAAATGAAACCAAGGGATTAGAAAGTTGCACTGCTTGAGAAACATCTCAGGTTTCATTTTCTCTCTAAGAATGTAAAATCACTTTTAAAACCTAAGAAGAATTTTTGTGTTTGAACGTAAACACCTAACAATCTCCTAGGTCCCAGAATGTCCTAATGTTATAGAAATGGCTTTCTTGTAAGTACTTGGAAGCACTGCCTGTCTCTTGTGTGACTGACTTGATTTTCCCCATACTGAAATGTTAAGGCATTTTTATGACTGAGCAAGGCAAAATTTACTGCTTTTATGAATCCGGTGACTGTTGACATCTGTGAGAGGAGAGCTGGCTTTCCTGCTGTGTTTATTTCAGTGTCCCCCTGCCACGTCATGCAGTTGTCTTGCTTCTGTGTCTGGAACATCCCAAGTTGCACCATTCTAAGAAAATTAAGTGCAATGAAATATGTTAATTCAACATTATGGCTTAAGAATTATATTTCCTGGACCTCACGTGTACTTAAAAGTTGAATCGATCAAATTTTATTGCTTCCTTTTCCCTTAGAGCAGCACGTTGAGAGTGATGGTTTTTTCTGCAATCATAACTCAGTGGCCTTGGTGACTTTTGTCTTGTGTTAATACTTAAAAGTAGATCCATTTCCTCTGGGGCCATGCATATTCAAAGGGGCTGAGGCTGTAGTCATCCCCAGAGCTGCTCTTGACACTTCTTGAGTTCATAGCGCTCTGTCACACAGCCTCTGTTGTAACTACAGAGACCGTTTTTACTCTTCAGCATTGATCATGAAGAGAAGAGATAAGGGGTTTTTATGCATAGCCGTCATACCAGTAACTTCTGTGACTGAACTCTCCACCTGTCTGCATCAGTAAAAAAAAAATTGTACCCTTTGTCAGAAAATTATTAACAGGCTGCTCTGGCAGCCCTCATTAGAACGCCGTGAGGCCATCTGTTGTGATCAGCCTACACACCTCACTTCCACTCACAGAGTATCATGTCTCCCTTGTTGCTCCTTTCAGGTAAAGAAGCAGATTTTAGATGAAAAGATCTACTGCCCTCCTGAGGCTTCTGTGCTCCTGGCTTCTTAACGCCGTCCAGGCCAAGGTAGGCTCAAAGAAGAAAAATGTATTTTTCCTGGGCGTTAATTTGGGTCATGGGATCACTCCTATCTTCTCTTTCTTTGGGTTTTCTGTACTTCAGAGAGACTTGCCCCAGAAAGTGAGATGTTATGGGACTTGTGGACTTGAAGAACCACTGTCACTGTTCCAGTGTTTGTATAATCTTGTGTGTGTATGTGTGTGTGTGTGTATGTGTGTGTGTGGTGTGCAGAAATTATAAGTATCGTTCTAATGAATTAGAATTCATTCTAAGTGAATTCATTCAGAAAGATGAATTTCCTGTGTAATCTCATTATGTACATGTGGTTTATGACATTTACTGGAAAAACCTTTTTTCTTTTTTTTTTTTAAACCATAAACTCAACCATGTGGTACAACCTTTCTATTAGCCAGGAAAAATGAATTTATGGTCTCCAATTTTAGCCAAACATGGCCTTTAGGTCAGAAAGGCCCAGGTCCTCACTCCAAACTCATTTGCAAACAAGCTGCCTTGTGTGTGGACACTACACTACACCTTCAGAGAATGCCCTGCTTCATCTGCCCCTGATTGACATGCTAGCTGTTCATGTGGCTAAGCACTGCAGGTGCTGTGGCCCACCAAGCCCACTTGAGCTGTCTGGTTAGCTGAAAATCGTTCACTTCCGTTAAATCACTATAGACCTTTTTTTTTTTTTTACAAGACCGATGAGAGGGTTAGCCACGGAGTTTCATGTCCCTCAGATTTTTCACTTCAGTCATATATCACCTTCTCTTGGTTCCCCTGATCCCTGCCTTTCACCAGAGCACAAGATGTTGTCCCCAGAATTGGGGCTCCTTGATTACTTGTGTGATTTTATTTTATTTATGTTTTATTTGTATTTTTATAGAGATGGGGTCTCACTATGTTGTCCAGGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTTCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGTCACCATGCCTGGTCTTACTTGTGTGATTTTTTTTTTTTTTTTTATTGATCATTCTTGGGTGTTTCTCACAGAGGGGGCTTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGACTTCCGCAGCGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAATGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACATAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCGTGTCTACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCCCTTTCTATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGACGGGGTGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCATATGGGGCGGCTGCCTGGCGGAGGAGCTCCTCACTTCACAGACGGGGCGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTGGCGGCCGGGCAGAGGCGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCCC
|
pathogenic
| 325,324 |
Gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor) variant at chromosome position 29655632 on chromosome 22: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Neurofibromatosis,_type_2']
|
ATGGGAATGAGACATGATTTAAAGTTAATGATGAATATCTTCTTTCACTCCTGTGTCTGTAGTTTTAGGCCGCTTCATTTGGAGAACACACCAGAAGTCTTAACTTGAGGCTCTTTGAGAATGAGAGAACATAACGAAATAATGAGATTTGGTGGTATATAGAAACAGCAGCCTTGTGCCTGACCTTTGTTTTTTCACTGTTGGTGGCTAAAAGAATAAATGTTTATAGATTATACTGAAGTACTGAGCTTTGTTGTTTTTGGTAAAATGAAGAGCCACTGTACGCTGATTGATAAGAGATAGGCTTTGATTTTATATTCTACTGTATGTTTCAGTTAGTTTCTTTTTAAACATTCTTTAACTTTTGATTATTTCCTTATCAGACTTGAGTTTTCTAGGAAAGGAGTTTTTTTTTTTAATCAGAGAATAAATTTCCAAGTCATTGTCCCCGGAGGGATAAATTAAAATGCAGGGCCTATTTCCAACCGCATTAGTGACTTCTCTGTAGCTTTAGGAAGATCAATTAACCTTTTACTCACTTCTTTGTCTGTACAATAGGAATGGCAGTGTTGACATCAGATTTTTCCAAAGTATTTTTCAGAAACTTGGGTGAAAGGTATTAAAACTACTGCCTGCATTATTCCTGGATCCCCCTAGTAATGGGCTCCAATTACCAGTCACTTATAAGAATTTATAGGTAAGACTCTTATCATATGTTGTTAATCACAACTTTCACAGTTGTGATTTGGTGTTTTAATTCAAAAGCTACTGTTTTGGAAGTGACTGCTTTCTTTGAGGGTTAGAAAACATGCCCACATTTCCATACAAGTGTCACATTCTTGTTAGCACATCACCCATCCATCTCTTACAGGATTATGCAACTCAGTTCATAGATATAATCAGCTTTGTATTTTCATTCAAGGATAACAAACTAGCAAGGTTGAAATCTTGACTTGTCATCGGAATTGAATTGCTCCCTGGAGCTGGGAGGGAATGAGATTGGTCCAGCTCTGTTCAGAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTGGTCTAAAAGAAAGCTAACCAAAGGACTTGAAGGAATATTGGAAGTACATAGCAATTTAATTTTAATAAATATTTTGTAATCTCCAGTAAACAGTGTGGGATCTCTGTTAAGAATATTAAAAAGCAAAGGTTTTTGGAGTTAGTTTGGGGTCACCAGGACTAGCATGGCCTGTAAATGTTTTTTCTAGCGTGGTTGTTTTTTCAGATGCAGTTGAGCATCATTGATTCCCAAAGAGGAGGCTGGAGCAGAGTGTATTCAGCTTGGGGAATTGAGCTGTTTGCAGTGGCGAGGGGCGGATAGAGGAGATGAGGTAGGGGTGGGCATTGTGGTTTTTAATCCTCAGTGTTGTTCATCTTATTCATTAGCCACAGAAGCAGGCCCGCCCTCCCTTTTGCTCCTGCCGATTTTACAGCCCTCACTCATCTGTCACTGGGTAATAAAGGCCCGTTTCTCACCTCTCACTCTCTTTACCTGTCCCTCGATGGCTTCTGAGCATGTGAAGGCCTGAGATGAGTGAGCATTGCTTCTGACTGAGCTCCGCTGTCAGAGGTGGTCTCTGTGATGTATCGCCCAGGCAGGGACAGGGGCACTGCCAGATGAGGGTTGCACCTAGGTCTGAGTTATCATGCAGCTTTCTGAGTTGCTCCTCCAATAGAATGGTGCCTTATTTACACGCCCTCTCTCTGTGTGACTATCTCCCTGGGTGTAGCTTTTTAAAAATAGCTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAGAATTACTGCTTGGTACGCAGAGCACCGAGGCCGAGCCAGGTGAGGCCCATTCATTGTTGGTTTACATTCCTTTATGGGCTTTTTTTTTTTTTTTTGCCTTAAAGAACTGCAAAACTAGGACATGCTTGTTAAACAAAATGCAGTACTGAAGTCTATAAAAGAAAAGGGGAGAGCTGGGGAGCTGGGAGTAACGTTGGTCTTCAGTTTTGTGTGTGTCCTTTTCTAGTACGTATGACATAAAGTAGGTATGTGTACTGCCTGTCAAGATATATAGACCTGTACTCACTGGTAATTAAGTTTAAGATTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGTCCAGGCTGAAATGCAGTGGCGCCATCTCAGCTCACTGCAGCCTTGACCTCCTGGGTTCAAGCAAACCTCCTGCCTCAGCACCCCCAGTAGCTGGCACTACAGGCACACGCCACCATGCCCAGCTAGTTTTTCTATTTTTAGTAGAGATGGGGTTTCAACATGTTACCCAGGCTGGTCTTCAACTCCTGGGCTCAAAGCAATCTGCCCACCTCGGCCTCCCAAAGTGTTGGGATTAGAGGCGTGAGCTGAGCCACTGTGCCTAGCCTGAATTTTAAGAATTCTATTGTATGGCTATCCCATTGCTTTTGCATCCATCCCTTTATTGATGGCATTTGAGTATCTGTAGGTTTTTCACTTTTACAAAAATTTCTGCAGTGCACAATCTTTTATTTTTATACAATTGTATGAGTAGTTCTGGGGATATATTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCAGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCATCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCTAGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCAATATATTCTTTAAAACAAGAGTTGTTGGGACAAAGGATGTGAGCATTTTGCATTTTGCCAGGTACCACCAAATTGTTCTCCAAAAAGGCTGTACCTGTTTATACATGCCTGTCGACAAGTGTTATGAGAGTGTCCCACCCCCCACCCCCAGTCTATCCTCAACAATTGTTTTTATCAGTCTAATTTTTGTAATCTAAAAAGTGAAAAGTTGTATTATGTTAGAATTCCATTCCCTTGATTAGGAATTGGTCATGTTTTCATTAGCCTTTAACATTTTTTTCTCTTCTTCAAATCAGTTTCCTAACACTTTTTTTTTTAAACTTAAGTGCAACATGCATATGGAAAAGTAGACAAATTATAAGTATACAACTTGATCAATTATTGTAAGGTGAAAACACCAGAGGAAGAAATAACCTGTGTCTCCCTACCCCCAATTCCCCTTTCTTCCTCCCCAAAGGCAACCAGTCTCCTGATTTTTAATTCCAGATTGGCGTTGCCCATCTTAAACTTTGCATTCTGTTTTTTGTGTCTCCTTTTACTCAGCATCATGTTGTCAGATTGGGGTTTGTGGCATGTGGCAATAGTTTTCTCATTTTCATTGCTGTATAGACTTCCACTGTATTAGTATATTAAAAATTATTTATTCATTCTACTAATGATGGACAGTTAGGTTGTTGGGTTGTCCCCTGAGTTTTGCTATTACAATAATGTCAAACAATTTCCCAAAGTAATTGTACCAATTTACGTCAATGTGCATGATTTCTGATTTCTCCACCTTTTCACCAACACTTGGCGTTCTCTCAGGCTGGGTTTTTAAAAATTCATTGAGAGCATTTGGAGATTGGAGAGAGAAGGAAGAGGACAAGGTCATAGGGAGACTTGAGTTAAAATATTTCAGTATGATACCTGTTTGGGAGTTTTCTGCAAGTTATTGCTACTTCAAGAGCTTACTTTAAATTATAACTTA
|
ATGGGAATGAGACATGATTTAAAGTTAATGATGAATATCTTCTTTCACTCCTGTGTCTGTAGTTTTAGGCCGCTTCATTTGGAGAACACACCAGAAGTCTTAACTTGAGGCTCTTTGAGAATGAGAGAACATAACGAAATAATGAGATTTGGTGGTATATAGAAACAGCAGCCTTGTGCCTGACCTTTGTTTTTTCACTGTTGGTGGCTAAAAGAATAAATGTTTATAGATTATACTGAAGTACTGAGCTTTGTTGTTTTTGGTAAAATGAAGAGCCACTGTACGCTGATTGATAAGAGATAGGCTTTGATTTTATATTCTACTGTATGTTTCAGTTAGTTTCTTTTTAAACATTCTTTAACTTTTGATTATTTCCTTATCAGACTTGAGTTTTCTAGGAAAGGAGTTTTTTTTTTTAATCAGAGAATAAATTTCCAAGTCATTGTCCCCGGAGGGATAAATTAAAATGCAGGGCCTATTTCCAACCGCATTAGTGACTTCTCTGTAGCTTTAGGAAGATCAATTAACCTTTTACTCACTTCTTTGTCTGTACAATAGGAATGGCAGTGTTGACATCAGATTTTTCCAAAGTATTTTTCAGAAACTTGGGTGAAAGGTATTAAAACTACTGCCTGCATTATTCCTGGATCCCCCTAGTAATGGGCTCCAATTACCAGTCACTTATAAGAATTTATAGGTAAGACTCTTATCATATGTTGTTAATCACAACTTTCACAGTTGTGATTTGGTGTTTTAATTCAAAAGCTACTGTTTTGGAAGTGACTGCTTTCTTTGAGGGTTAGAAAACATGCCCACATTTCCATACAAGTGTCACATTCTTGTTAGCACATCACCCATCCATCTCTTACAGGATTATGCAACTCAGTTCATAGATATAATCAGCTTTGTATTTTCATTCAAGGATAACAAACTAGCAAGGTTGAAATCTTGACTTGTCATCGGAATTGAATTGCTCCCTGGAGCTGGGAGGGAATGAGATTGGTCCAGCTCTGTTCAGAAATGGCAGTTATCTTTAGAATCTCAATCGCCTGCTCTCCCTTTCTTCTTTCCAGTATGGTGACTACGACCCCAGTGTTCACAAGCGGGGATTTTTGGCCCAAGAGGAATTGCTTCCAAAAAGGGTAAGAGATTAAATTCCCTTTTCAGGAAGACATAGCAGATATGTGGTCTAAAAGAAAGCTAACCAAAGGACTTGAAGGAATATTGGAAGTACATAGCAATTTAATTTTAATAAATATTTTGTAATCTCCAGTAAACAGTGTGGGATCTCTGTTAAGAATATTAAAAAGCAAAGGTTTTTGGAGTTAGTTTGGGGTCACCAGGACTAGCATGGCCTGTAAATGTTTTTTCTAGCGTGGTTGTTTTTTCAGATGCAGTTGAGCATCATTGATTCCCAAAGAGGAGGCTGGAGCAGAGTGTATTCAGCTTGGGGAATTGAGCTGTTTGCAGTGGCGAGGGGCGGATAGAGGAGATGAGGTAGGGGTGGGCATTGTGGTTTTTAATCCTCAGTGTTGTTCATCTTATTCATTAGCCACAGAAGCAGGCCCGCCCTCCCTTTTGCTCCTGCCGATTTTACAGCCCTCACTCATCTGTCACTGGGTAATAAAGGCCCGTTTCTCACCTCTCACTCTCTTTACCTGTCCCTCGATGGCTTCTGAGCATGTGAAGGCCTGAGATGAGTGAGCATTGCTTCTGACTGAGCTCCGCTGTCAGAGGTGGTCTCTGTGATGTATCGCCCAGGCAGGGACAGGGGCACTGCCAGATGAGGGTTGCACCTAGGTCTGAGTTATCATGCAGCTTTCTGAGTTGCTCCTCCAATAGAATGGTGCCTTATTTACACGCCCTCTCTCTGTGTGACTATCTCCCTGGGTGTAGCTTTTTAAAAATAGCTTTACTGTTTTGTAAAAATGATGCATAATTATAAAAGTGGCAAACAATACCAAATTTACTTCATGTGTAGGTTTTTTATTTTGCTCTATTTTTTGGTAGGTAATAAATCTGTATCAGATGACTCCGGAAATGTGGGAGGAGAATTACTGCTTGGTACGCAGAGCACCGAGGCCGAGCCAGGTGAGGCCCATTCATTGTTGGTTTACATTCCTTTATGGGCTTTTTTTTTTTTTTTTGCCTTAAAGAACTGCAAAACTAGGACATGCTTGTTAAACAAAATGCAGTACTGAAGTCTATAAAAGAAAAGGGGAGAGCTGGGGAGCTGGGAGTAACGTTGGTCTTCAGTTTTGTGTGTGTCCTTTTCTAGTACGTATGACATAAAGTAGGTATGTGTACTGCCTGTCAAGATATATAGACCTGTACTCACTGGTAATTAAGTTTAAGATTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGTCCAGGCTGAAATGCAGTGGCGCCATCTCAGCTCACTGCAGCCTTGACCTCCTGGGTTCAAGCAAACCTCCTGCCTCAGCACCCCCAGTAGCTGGCACTACAGGCACACGCCACCATGCCCAGCTAGTTTTTCTATTTTTAGTAGAGATGGGGTTTCAACATGTTACCCAGGCTGGTCTTCAACTCCTGGGCTCAAAGCAATCTGCCCACCTCGGCCTCCCAAAGTGTTGGGATTAGAGGCGTGAGCTGAGCCACTGTGCCTAGCCTGAATTTTAAGAATTCTATTGTATGGCTATCCCATTGCTTTTGCATCCATCCCTTTATTGATGGCATTTGAGTATCTGTAGGTTTTTCACTTTTACAAAAATTTCTGCAGTGCACAATCTTTTATTTTTATACAATTGTATGAGTAGTTCTGGGGATATATTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCAGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCATCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCTAGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCAATATATTCTTTAAAACAAGAGTTGTTGGGACAAAGGATGTGAGCATTTTGCATTTTGCCAGGTACCACCAAATTGTTCTCCAAAAAGGCTGTACCTGTTTATACATGCCTGTCGACAAGTGTTATGAGAGTGTCCCACCCCCCACCCCCAGTCTATCCTCAACAATTGTTTTTATCAGTCTAATTTTTGTAATCTAAAAAGTGAAAAGTTGTATTATGTTAGAATTCCATTCCCTTGATTAGGAATTGGTCATGTTTTCATTAGCCTTTAACATTTTTTTCTCTTCTTCAAATCAGTTTCCTAACACTTTTTTTTTTAAACTTAAGTGCAACATGCATATGGAAAAGTAGACAAATTATAAGTATACAACTTGATCAATTATTGTAAGGTGAAAACACCAGAGGAAGAAATAACCTGTGTCTCCCTACCCCCAATTCCCCTTTCTTCCTCCCCAAAGGCAACCAGTCTCCTGATTTTTAATTCCAGATTGGCGTTGCCCATCTTAAACTTTGCATTCTGTTTTTTGTGTCTCCTTTTACTCAGCATCATGTTGTCAGATTGGGGTTTGTGGCATGTGGCAATAGTTTTCTCATTTTCATTGCTGTATAGACTTCCACTGTATTAGTATATTAAAAATTATTTATTCATTCTACTAATGATGGACAGTTAGGTTGTTGGGTTGTCCCCTGAGTTTTGCTATTACAATAATGTCAAACAATTTCCCAAAGTAATTGTACCAATTTACGTCAATGTGCATGATTTCTGATTTCTCCACCTTTTCACCAACACTTGGCGTTCTCTCAGGCTGGGTTTTTAAAAATTCATTGAGAGCATTTGGAGATTGGAGAGAGAAGGAAGAGGACAAGGTCATAGGGAGACTTGAGTTAAAATATTTCAGTATGATACCTGTTTGGGAGTTTTCTGCAAGTTATTGCTACTTCAAGAGCTTACTTTAAATTATAACTTANN
|
pathogenic
| 325,350 |
Is the genetic change at chromosome 22, position 29661360, within gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor) benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
TTATAATCCTCAGAAAACAGTTTTTTTGGTTTTTAAAAATCTTTTTTGTTTTTTAGAGGTGGAGTTTTGCTATATCGCCCAGGCCTGCTAGGCTCAAGTGATCCTTCCACCCCAGCCTTCCAAGTAGCTGGGGAGTATCACTGTGCCTGGCTGAAAAGGTTTCTTATTAGGGAATATTTCTACATCAGTCAGACTAATGGATACTGTTTTTTGTGTGTGTTTCCTATATTGAGCAATAGACAAAGCTACTGGCTATCTTAGTGTCTTTTATGTTAAATTTCCTGAAATCTCACCATTAACTAAGGAAGATGTATGCTTAAAACAGTTTAAAAGGGGCTGCTTGAGTCCTCACCTCTCTCTCTGTTTAATCTCTAGGAGTGTTGGAGTCATAATGGTAGGAGGCAGAAGGCTGAATCTTTTTTTAAAAATTTAAACTAAATAGTCAGAAACTATTTTCTGACTATTGAAACACAATGAAACATCTCATTTTCCAAAATGTACTGCAGATGTAAAAGTACAAAGCCTCACTTCTATTAATGCAGTAGCTTTCATGGCTTTGCTGACGAGCAGAAGAGTCTCTCATGGTTTGGTGATAGCACCTGACTTCAGGATGTTAGGAGTAAAAAGATTTATGCTGGAGTACTCACTCCTCAGTCTGATATCTGCTGTTAGATGGGTACTTCTCTTCACAGTCCCAGTACCTTCTCAGTTTGCAGACCTGTTTTTCTGCCCTTGAGTCTTGGTTCAGTTTCCATTATCGTCAAGGGGTCAGGAGCTGTAGTATCCTTGTGCAGCGAGTTTCCTTCCACTCCAAATGAGGGCTAGACCACAGCACTGGCGGGTGGACCTGCACGTGAAGATACAGCCACTCAGTCCGTCGCAGGTTCAGTGCTGTGGGAGCCCAGGGCACCCGCCGCGGGCTGCTCTGACTGCTGGCCAGGACCGCTGTCAGGGGCAGAGCATAAGTACGGCTTTTAGACAACTTTGTTGATGAATAGAATTCTTTTTGATATGTATTTCCCATCATGCAATTATTAAAAATTTCAAACTTACAGGAAAACTGAAAGAATTTTTCAGTGAATACCCATATATATGCACAATCTAGATTCTACAGTTAACATTTTACCAGACTTGCTTTATCACATGAAGACTACATTTTATCATAAAATGAGACCATCCAGCCCCAGGCACTGAAAATTTTCTTCCTAGTAGTCCAACAATGGTTTCTTTAAATATAAGAAATCATTAAACCTATGGGTTTTTTTTGTTTTGTTTTTTAACGAAGTCTCTCTTTGTCGACCAGGCTGGAGTGCCGGGGCACCATCTCAGCTCACTGCAGCCTTCTGGGTTCAACCAGTTCTCCTGCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGTGCCACCATGCCCGGCTAATTTTTTTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGAACCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCTCCCCGCCTAAACCTATGGGCTTTAATTCTATACCTATGATAGCCTGCTTATTTAACCAGAGGGAACAACACTTATGTTACTCTTCCTTTAGCCATCGAGCCAGTGACAGAAGCCCTCAGTGATTGTTCTGGGGGACCCAGAAGTCACAAGAATGGAACAGTTTTGCTTCTACCTGCCCCAATTCAGAAAGCTGAAATCTTCTTGGTTTATAAGACAGCTGTGACTTCTGTTGGGACCTGCTGAAACTTGTCACATGTGACAGTGTGTGCCAGATTCTTTGGAAGGTTGAATAAAATTTTGAGCCTCAGCTGGCGCTTACAGTAGCTGTTCTTATTGGATCCACAGAATAAAAAGGGCACAGAGCTGCTGCTTGGAGTGGATGCCCTGGGGCTTCACATTTATGACCCTGAGAACAGACTGACCCCCAAGATCTCCTTCCCGTGGAATGAAATCCGAAACATCTCGTACAGTGACAAGGAGGTAGGACATGTGTGTACTGCAGATGGGTCCAGCAGATCTTTCCCTGTCTGCCCCCCTCACTGGAGCCTCCCCAGCCAGGGCATCTCCTTGTTATTCATAGAGTCCTTTAATTCCCAGGCTTTGAGGGTGTGGTTGTTGATTTTCGAAGTCTTTACAGAACAGTATTGGCATCAATAACCCCACTATGACTAATAGGAAACTGGGAAGCTCAACTGGCCAGGGAGAAACCCCAAAGAATAGTGAACAAAAACAGTAACATTTTCTTATTACTTGGCTTTCTATTTTTGTCGATACATTCTCTTTGTATGTTTTCTTTTCTTTTTTAGAGACAGGATTTCATTATGCATGCCCAGACTGGATTTGAATCCTGGGCTCAAGCAATCCTTCCACCTCAGCCTCCTGAGTAGCTACTACAGGTGTGCGCCACAGCACCTGGCTTAAATTCTCTTCGTATTTTAAGTGTGGTCTTTATTGAGCTTTCTTTCTGTGTCCGGTGCTTGATACATGTGGCAGAGAAATACATATACACACATATACACATATGGACATATATGTGTTTTGTGTGTGTATCTCTCAGTAATTATATAAATAAGTATATTAGGTTAATATGCTTACAAGAATTCCAAAATAATTAAGGTGGAATAACTTAGATAAATGCTCTTAGAATTTAAATATTTCCATATAGGGTGGTGACTTTTACCAAAAAGGTCCCATAATGTATAATCTTATGTTTACTCATCCATCCATTCATTCATTCACTCATCCATTCATTCATTCTTCATTCATTTTATTTTATTATTATCATTTTTTGAGACAGGCTCTCATTCTGTCACCGAGGCTGGAATGCAGTGGCACATGATCACGGCTCACTGCAGCCTTGACCTCCCTGGGCTCAGGTGATCCTCTCACCTCAGCCTCCCAGGTAACAGACTACAGGCGTGTGCCACCACATCTGGCTAATTTTTTGTAGAGATGGGGTTTTGCCACATTGCCCACCAGGCTGGTCTTGAACTTCTGGGCTTGAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGCTCAGCAGTTCTTCATTAATTTTAAAGGAATTATTGAGCATCTGCTTTGTGTTAGATTTCATGGGGGAAACAAAGATGTAGAAAATCCAGTCTTAGCATTCAAGGAAGTCAAGTAACTACTCACCTGCTATAATAAATAAGTGCCGTGGAAGAGACATGATGACAACAAATGTAGTCTTCCACATACAAGCACATTCACCCTGACCGTCTGAATTTAATCTCTATAAGAACACTGCTGTAAAGGCAGGGGCTGTGTTGTCAATATCTCTGTGTCACATCAGGAAGCAGAGACACAGAAGGATCAAGTGACCTGTGTCTGAGTGAAGTAGCAGAGATTAGGAGCCAGAGTTGCTGATGCCACAGCCCCCGCCTTTCAGGGAGGCCCAGAGGCTGAGTCCTGAGAGCACAGGGGCACTGGGGAGAGGGAGGCTCCACTCAGTGACCTCCTGGTACCTGCACAGCCAGGACACAGACTAGAGAGTGAAGAACAGGAACAGCTTATGTTGCTGCCTGCAGAGCCCCAAACCTGAGCATATTTCCTGTTTTCTCTTTTTCATGGCAACTCAAGGAAGGGAACACCAGGCCCCTGGTTTCCAGTATATGGTTGGGATCTACTCAGCCATGCTTGATAAGACAGACTGAGCCCCTTAATTCAAAACATTCTGACTTTGAAGTTTTTGTTAGTAGTTAGCCCAGGAGATAAGCAGTTAGGTATTTCTTTTTTAAAGTACTTAAATTGAAAGTTCCACATGACATAAAGCTGTATGTGTGCCACCGTATGGTAGTTTTTCATCTCCCAATTTCATAAAGTCTGTTTATTGCACGTCCACACATTTGTGTGCTAAAGGCTCCCTAAACACCCGTTCTTCAAAGAAGCCAAGGATTGAAATCTCCCATACTATGGCCTGACACAGTAAACTCTAATATGCCCTCTCCGGGGGACAGGCGCCATCATGTTCCATCATGTCAATAACTCATGCAGTAAGC
|
TTATAATCCTCAGAAAACAGTTTTTTTGGTTTTTAAAAATCTTTTTTGTTTTTTAGAGGTGGAGTTTTGCTATATCGCCCAGGCCTGCTAGGCTCAAGTGATCCTTCCACCCCAGCCTTCCAAGTAGCTGGGGAGTATCACTGTGCCTGGCTGAAAAGGTTTCTTATTAGGGAATATTTCTACATCAGTCAGACTAATGGATACTGTTTTTTGTGTGTGTTTCCTATATTGAGCAATAGACAAAGCTACTGGCTATCTTAGTGTCTTTTATGTTAAATTTCCTGAAATCTCACCATTAACTAAGGAAGATGTATGCTTAAAACAGTTTAAAAGGGGCTGCTTGAGTCCTCACCTCTCTCTCTGTTTAATCTCTAGGAGTGTTGGAGTCATAATGGTAGGAGGCAGAAGGCTGAATCTTTTTTTAAAAATTTAAACTAAATAGTCAGAAACTATTTTCTGACTATTGAAACACAATGAAACATCTCATTTTCCAAAATGTACTGCAGATGTAAAAGTACAAAGCCTCACTTCTATTAATGCAGTAGCTTTCATGGCTTTGCTGACGAGCAGAAGAGTCTCTCATGGTTTGGTGATAGCACCTGACTTCAGGATGTTAGGAGTAAAAAGATTTATGCTGGAGTACTCACTCCTCAGTCTGATATCTGCTGTTAGATGGGTACTTCTCTTCACAGTCCCAGTACCTTCTCAGTTTGCAGACCTGTTTTTCTGCCCTTGAGTCTTGGTTCAGTTTCCATTATCGTCAAGGGGTCAGGAGCTGTAGTATCCTTGTGCAGCGAGTTTCCTTCCACTCCAAATGAGGGCTAGACCACAGCACTGGCGGGTGGACCTGCACGTGAAGATACAGCCACTCAGTCCGTCGCAGGTTCAGTGCTGTGGGAGCCCAGGGCACCCGCCGCGGGCTGCTCTGACTGCTGGCCAGGACCGCTGTCAGGGGCAGAGCATAAGTACGGCTTTTAGACAACTTTGTTGATGAATAGAATTCTTTTTGATATGTATTTCCCATCATGCAATTATTAAAAATTTCAAACTTACAGGAAAACTGAAAGAATTTTTCAGTGAATACCCATATATATGCACAATCTAGATTCTACAGTTAACATTTTACCAGACTTGCTTTATCACATGAAGACTACATTTTATCATAAAATGAGACCATCCAGCCCCAGGCACTGAAAATTTTCTTCCTAGTAGTCCAACAATGGTTTCTTTAAATATAAGAAATCATTAAACCTATGGGTTTTTTTTGTTTTGTTTTTTAACGAAGTCTCTCTTTGTCGACCAGGCTGGAGTGCCGGGGCACCATCTCAGCTCACTGCAGCCTTCTGGGTTCAACCAGTTCTCCTGCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGTGCCACCATGCCCGGCTAATTTTTTTGTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGAACCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCTCCCCGCCTAAACCTATGGGCTTTAATTCTATACCTATGATAGCCTGCTTATTTAACCAGAGGGAACAACACTTATGTTACTCTTCCTTTAGCCATCGAGCCAGTGACAGAAGCCCTCAGTGATTGTTCTGGGGGACCCAGAAGTCACAAGAATGGAACAGTTTTGCTTCTACCTGCCCCAATTCAGAAAGCTGAAATCTTCTTGGTTTATAAGACAGCTGTGACTTCTGTTGGGACCTGCTGAAACTTGTCACATGTGACAGTGTGTGCCAGATTCTTTGGAAGGTTGAATAAAATTTTGAGCCTCAGCTGGCGCTTACAGTAGCTGTTCTTATTGGATCCACAGAATAAAAAGGGCACAGAGCTGCTGCTTGGAGTGGATGCCCTGGGGCTTCACATTTATGACCCTGAGAACAGACTGACCCCCAAGATCTCCTTCCCGTGGAATGAAATCCGAAACATCTCGTACAGTGACAAGGAGGTAGGACATGTGTGTACTGCAGGGTCCAGCAGATCTTTCCCTGTCTGCCCCCCTCACTGGAGCCTCCCCAGCCAGGGCATCTCCTTGTTATTCATAGAGTCCTTTAATTCCCAGGCTTTGAGGGTGTGGTTGTTGATTTTCGAAGTCTTTACAGAACAGTATTGGCATCAATAACCCCACTATGACTAATAGGAAACTGGGAAGCTCAACTGGCCAGGGAGAAACCCCAAAGAATAGTGAACAAAAACAGTAACATTTTCTTATTACTTGGCTTTCTATTTTTGTCGATACATTCTCTTTGTATGTTTTCTTTTCTTTTTTAGAGACAGGATTTCATTATGCATGCCCAGACTGGATTTGAATCCTGGGCTCAAGCAATCCTTCCACCTCAGCCTCCTGAGTAGCTACTACAGGTGTGCGCCACAGCACCTGGCTTAAATTCTCTTCGTATTTTAAGTGTGGTCTTTATTGAGCTTTCTTTCTGTGTCCGGTGCTTGATACATGTGGCAGAGAAATACATATACACACATATACACATATGGACATATATGTGTTTTGTGTGTGTATCTCTCAGTAATTATATAAATAAGTATATTAGGTTAATATGCTTACAAGAATTCCAAAATAATTAAGGTGGAATAACTTAGATAAATGCTCTTAGAATTTAAATATTTCCATATAGGGTGGTGACTTTTACCAAAAAGGTCCCATAATGTATAATCTTATGTTTACTCATCCATCCATTCATTCATTCACTCATCCATTCATTCATTCTTCATTCATTTTATTTTATTATTATCATTTTTTGAGACAGGCTCTCATTCTGTCACCGAGGCTGGAATGCAGTGGCACATGATCACGGCTCACTGCAGCCTTGACCTCCCTGGGCTCAGGTGATCCTCTCACCTCAGCCTCCCAGGTAACAGACTACAGGCGTGTGCCACCACATCTGGCTAATTTTTTGTAGAGATGGGGTTTTGCCACATTGCCCACCAGGCTGGTCTTGAACTTCTGGGCTTGAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGCTCAGCAGTTCTTCATTAATTTTAAAGGAATTATTGAGCATCTGCTTTGTGTTAGATTTCATGGGGGAAACAAAGATGTAGAAAATCCAGTCTTAGCATTCAAGGAAGTCAAGTAACTACTCACCTGCTATAATAAATAAGTGCCGTGGAAGAGACATGATGACAACAAATGTAGTCTTCCACATACAAGCACATTCACCCTGACCGTCTGAATTTAATCTCTATAAGAACACTGCTGTAAAGGCAGGGGCTGTGTTGTCAATATCTCTGTGTCACATCAGGAAGCAGAGACACAGAAGGATCAAGTGACCTGTGTCTGAGTGAAGTAGCAGAGATTAGGAGCCAGAGTTGCTGATGCCACAGCCCCCGCCTTTCAGGGAGGCCCAGAGGCTGAGTCCTGAGAGCACAGGGGCACTGGGGAGAGGGAGGCTCCACTCAGTGACCTCCTGGTACCTGCACAGCCAGGACACAGACTAGAGAGTGAAGAACAGGAACAGCTTATGTTGCTGCCTGCAGAGCCCCAAACCTGAGCATATTTCCTGTTTTCTCTTTTTCATGGCAACTCAAGGAAGGGAACACCAGGCCCCTGGTTTCCAGTATATGGTTGGGATCTACTCAGCCATGCTTGATAAGACAGACTGAGCCCCTTAATTCAAAACATTCTGACTTTGAAGTTTTTGTTAGTAGTTAGCCCAGGAGATAAGCAGTTAGGTATTTCTTTTTTAAAGTACTTAAATTGAAAGTTCCACATGACATAAAGCTGTATGTGTGCCACCGTATGGTAGTTTTTCATCTCCCAATTTCATAAAGTCTGTTTATTGCACGTCCACACATTTGTGTGCTAAAGGCTCCCTAAACACCCGTTCTTCAAAGAAGCCAAGGATTGAAATCTCCCATACTATGGCCTGACACAGTAAACTCTAATATGCCCTCTCCGGGGGACAGGCGCCATCATGTTCCATCATGTCAATAACTCATGCAGTAAGCNNN
|
benign
| 325,396 |
Is the variant located on chromosome 22 at position 29671831, gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Neurofibromatosis,_type_2']
|
ATTTAGAATGTGAGTAAGTCAATGACTTACCTTCCAGACCTTAGTTTTCTCATCCATCAGGTGAAACTAATGATATACCTTCTCCATCTCAGATGAAGGGACGTATATTACACCTTACAGTCTTTGTATGCAGTAAACTTCTTTTGTGAATAGGAGGTCTTTTATATTGGGGTAGAGGTCTCAGGGAAAGTACAGGGCCAGGAACTGAAGGAGATTACCTGGCTTTTTTTTTTAATAAAAGGGTCTTGTTCTGTCACTGAGGCTGGAGTGCAGTGGTGCCATCATAGCTCACTGTAACCTCAAGCTCCTGGGCTTGAGCAATCCTTCTGCCTCAGCCCCTCAAGTAGCTGGGACTACAAGTGCATGCTACCACACCTAGTTAATTTTAATTGTTTCGTAGAGATCAGGTCTTGCTATGTTACCCAGGCTGATCTCAAACTCCTGGGCTCAAACATTCCTCCTACTTCAGCCCCCCAAAGTGCTAGGGTTACAGGCATGAGCTGCTATGCCTGCCTGGCCTGACTGGGCTTTTTCTTTCTTTCTTTCTTAGTTTCTTTTTTTTTAAAAGAATTGTAGATATGTAGTAAGCCACCTTATGGAAATTGTAATATGATGGAAATTAGAGAACAAATTGGCCAAGCTTTTCATTGACTTACAAGGAGAAAATTGGAGAAGAACTTTCACTGTTTTATTGCTTGTCTTTGCATTATCTTTTTGAGCTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTTGGCTTAGGATTTAGAAAAAGCAGCAGTCTTAGAAACCTTGTATGACCAGAGTGTGGGATAAGATTGAAGCAAGAAGTAATTAAATGTGCTTTAATTATTTAAGGCAGAAAATAGTGCAGTGGTCACTTCTGGGTTCTGCTTTTTGAACTCAGTTAGTACCCTGGGATCACAGAGGAATGGCACTGTCTTGTGCTTGTTCCCCTTATTAAGCTCAGCATGTGGCCCAATTAATGCAGTGATCCAGAAGGCAAGGGAGGTAGTGGTGGCTTTGTGCTGTTGCCTTAAGGACACGGGGCTGTGTTTCCCGCCTGGCTCCCTCCTGTCCTAGGCCTGGCTCAGGAGTTGTCTCCACATGAGGCTGTGCAAGTCTGTGCTGTGGCTGTTGCAGCTCCCCCCTGTGAAATACAATGTGTGAACTATTGATGCATCACGTAGAATGATTCCATCTTCTCTGTGGGTCAGAGGCAAGAGTGGAGCTATTGTTGATGAAATCAGAGATGTGAGAGGGGTCCATGTGGATTAGAAATGGTGAGATGGCTTGCCTGCCCAGATGAGAAAGCTGCTTATTTCTGGGGCTCTATCTGAGGGAGGAGGTCCTGCATTGCATCCCATCGGCCATGGGGCAGAGCCACCTGGGGTTTCCCAACAAAAAGCAACATTGGCAAGGTAGCCATTTCAGTGCACCGTGTATAAGAATGCCTCCTTCTGCCAGGCGCGGCGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATAAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTGATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGTGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGATTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAAACTCTGTCCCCTCCACCAAAAAAAAAGAATGCCTTTTTCTATCCGGGTCAAGACTCAACAGGTTTTTATTGTTTGTTCATTTGTTCATTCACCACTAGACTGTTTTTCAAGTGGCACAGCTTTCAACTCTGCAACTGGTTTAGAAGGACGGGGTGGGGGGCAATAAGAATGACCCTGGCTACCTAAAGGAAAGGGAAGGAAAAAGGTCCCAAAAGGGGAGACTGGAGATGGGGCATCTTTGGGCCCTTGTGGCACCCTAGGTCTCGAGCCCTGTGATTCAATGACTGTTTTTCTTCACCCCTCGCAGATGGAGCGGCAGCGCCTCGCTCGAGAGAAGCAGATGAGGGAGGAGGCTGAACGCACGAGGGATGAGTTGGAGAGGAGGCTGCTGCAGATGAAAGAAGAAGCAACAATGGCCAACGAAGCACTGGTGATTTCTGAGGGGCTGGGGTTCCAGGAGGCTACTTGGGGACTTCCTTGGCTTTTCTGGAGCTTGGTCTCCTGAAAACCATGAGTTAGCAGCGTTTGCTTTGAAATACTTAATTTCAGCTTTGAAAAAATCAGTGCCTTTTCTTTTCACCTGTGTTGGCAGAAGCAGATTTAGGTTGAGCTTATGTGCAGCCAAACTCCACTTTCACCACGAGGTTGCCTTTATAGCAGGGCTTCTCAGCCTGGGCACTACTGACATTTGGGGCTGACCATCCTTTGCTGTAGGAACTAGATCCCAGTAGCAGCACCTCACCCTCCATTTGTAACAATCCAAAACATCTTCAGACATTGCCACATGTCTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGTACAGTGGCACGATCTCAGCTTACTGCAATCTTCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGGCATGCATCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTTAGCCACCGTGCCCAGCTGTACTTTTATTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAAGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCGCCAACACATCCAGCTTTTTTTTTTTTGTATTTTTAGTAGAAATGGGTTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAAGGCTGGGATTATAGGCGTGAGCCACCGTGCCCCACCTGCCACATGTCTCTTGCAGGGGACAAAAAACTCCTCTGGTTCTAACCACTGATTTAAAGGGAAAGAACAGAGTTTAAGTTGTTTTTCTCCACGTGAAGCATAAGCCTGAGCTGAGGTGGGTACTCAGAGAAGGTGCTCTTGTTACTCCCCATGGGTGCAGCCCGAAGGGCCCTTCTGAAAAGTTGGGGAATGTGGCTTGTCATTTCTTGTCAGAGGGTCATGGAGGGCACTCAGCAGCAGGGCCCCAGGAGTCCGAGACTCTGGTTTGTCCCATCTCAGTGTTCAAGGCAGATCTGGGCGGGAGAACAGCACATGATCCCACTTCAGCTAAGAGCACTGTGCCCTCCAGATGCGGTCTGAGGAGACAGCTGACCTGTTGGCTGAAAAGGCCCAGATCACCGAGGAGGAGGCAAAACTTCTGGCCCAGAAGGCCGCAGAGGCTGAGCAGGAAATGCAGCGCATCAAGGCCACAGCGATTCGCACGGAGGAGGAGAAGCGCCTGATGGAGCAGAAGGTGCTGGAAGCCGAGGTGCTGGCACTGAAGATGGCTGAGGAGTCAGAGAGGAGGTGAGGGGGCACCGGGCACCAGACTGGCGAGGAGGCTGGCGAAGGGCCGCAGACCAGCCTGCCCTGAGGCTGAGCTCTACAGCAGTTGTCCTCAAGCTGCTTGCCCATCTTCTGGGCCGTGGGGAGGCTCCTCCTTGGCTGATGGTGACTGGTGCTTTATCCATTTTGGGGCTGGCGCTACTGGTTGGGCACAGGAACTCAGTTCCCCCTCCAGGGGGGCCTCTCTGGTCATACTTGTGTCTCTTTGATAAGCCCCTGTCCCTCTGATGGCCGTGTGTGCAGGAAAACCCCTGAGCATATCCACAGACCGCTTTCAGCTGAAGAGATGTGAGGAGGCTCTTTGTGCATTTAAAAAAAGTGTGGTTCTTTTCTGCTTTCATTCAGTGGGGCTG
|
ATTTAGAATGTGAGTAAGTCAATGACTTACCTTCCAGACCTTAGTTTTCTCATCCATCAGGTGAAACTAATGATATACCTTCTCCATCTCAGATGAAGGGACGTATATTACACCTTACAGTCTTTGTATGCAGTAAACTTCTTTTGTGAATAGGAGGTCTTTTATATTGGGGTAGAGGTCTCAGGGAAAGTACAGGGCCAGGAACTGAAGGAGATTACCTGGCTTTTTTTTTTAATAAAAGGGTCTTGTTCTGTCACTGAGGCTGGAGTGCAGTGGTGCCATCATAGCTCACTGTAACCTCAAGCTCCTGGGCTTGAGCAATCCTTCTGCCTCAGCCCCTCAAGTAGCTGGGACTACAAGTGCATGCTACCACACCTAGTTAATTTTAATTGTTTCGTAGAGATCAGGTCTTGCTATGTTACCCAGGCTGATCTCAAACTCCTGGGCTCAAACATTCCTCCTACTTCAGCCCCCCAAAGTGCTAGGGTTACAGGCATGAGCTGCTATGCCTGCCTGGCCTGACTGGGCTTTTTCTTTCTTTCTTTCTTAGTTTCTTTTTTTTTAAAAGAATTGTAGATATGTAGTAAGCCACCTTATGGAAATTGTAATATGATGGAAATTAGAGAACAAATTGGCCAAGCTTTTCATTGACTTACAAGGAGAAAATTGGAGAAGAACTTTCACTGTTTTATTGCTTGTCTTTGCATTATCTTTTTGAGCTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTTGGCTTAGGATTTAGAAAAAGCAGCAGTCTTAGAAACCTTGTATGACCAGAGTGTGGGATAAGATTGAAGCAAGAAGTAATTAAATGTGCTTTAATTATTTAAGGCAGAAAATAGTGCAGTGGTCACTTCTGGGTTCTGCTTTTTGAACTCAGTTAGTACCCTGGGATCACAGAGGAATGGCACTGTCTTGTGCTTGTTCCCCTTATTAAGCTCAGCATGTGGCCCAATTAATGCAGTGATCCAGAAGGCAAGGGAGGTAGTGGTGGCTTTGTGCTGTTGCCTTAAGGACACGGGGCTGTGTTTCCCGCCTGGCTCCCTCCTGTCCTAGGCCTGGCTCAGGAGTTGTCTCCACATGAGGCTGTGCAAGTCTGTGCTGTGGCTGTTGCAGCTCCCCCCTGTGAAATACAATGTGTGAACTATTGATGCATCACGTAGAATGATTCCATCTTCTCTGTGGGTCAGAGGCAAGAGTGGAGCTATTGTTGATGAAATCAGAGATGTGAGAGGGGTCCATGTGGATTAGAAATGGTGAGATGGCTTGCCTGCCCAGATGAGAAAGCTGCTTATTTCTGGGGCTCTATCTGAGGGAGGAGGTCCTGCATTGCATCCCATCGGCCATGGGGCAGAGCCACCTGGGGTTTCCCAACAAAAAGCAACATTGGCAAGGTAGCCATTTCAGTGCACCGTGTATAAGAATGCCTCCTTCTGCCAGGCGCGGCGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATAAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCTGATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGTGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGATTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAAACTCTGTCCCCTCCACCAAAAAAAAAGAATGCCTTTTTCTATCCGGGTCAAGACTCAACAGGTTTTTATTGTTTGTTCATTTGTTCATTCACCACTAGACTGTTTTTCAAGTGGCACAGCTTTCAACTCTGCAACTGGTTTAGAAGGACGGGGTGGGGGGCAATAAGAATGACCCTGGCTACCTAAAGGAAAGGGAAGGAAAAAGGTCCCAAAAGGGGAGACTGGAGATGGGGCATCTTTGGGCCCTTGTGGCACCCTAGGTCTCGAGCCCTGTGATTCAATGACTGTTTTTCTTCACCCCTCGCAGATGGAGCCGGCAGCGCCTCGCTCGAGAGAAGCAGATGAGGGAGGAGGCTGAACGCACGAGGGATGAGTTGGAGAGGAGGCTGCTGCAGATGAAAGAAGAAGCAACAATGGCCAACGAAGCACTGGTGATTTCTGAGGGGCTGGGGTTCCAGGAGGCTACTTGGGGACTTCCTTGGCTTTTCTGGAGCTTGGTCTCCTGAAAACCATGAGTTAGCAGCGTTTGCTTTGAAATACTTAATTTCAGCTTTGAAAAAATCAGTGCCTTTTCTTTTCACCTGTGTTGGCAGAAGCAGATTTAGGTTGAGCTTATGTGCAGCCAAACTCCACTTTCACCACGAGGTTGCCTTTATAGCAGGGCTTCTCAGCCTGGGCACTACTGACATTTGGGGCTGACCATCCTTTGCTGTAGGAACTAGATCCCAGTAGCAGCACCTCACCCTCCATTTGTAACAATCCAAAACATCTTCAGACATTGCCACATGTCTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGTACAGTGGCACGATCTCAGCTTACTGCAATCTTCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGGCATGCATCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTTAGCCACCGTGCCCAGCTGTACTTTTATTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAAGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCGCCAACACATCCAGCTTTTTTTTTTTTGTATTTTTAGTAGAAATGGGTTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAAGGCTGGGATTATAGGCGTGAGCCACCGTGCCCCACCTGCCACATGTCTCTTGCAGGGGACAAAAAACTCCTCTGGTTCTAACCACTGATTTAAAGGGAAAGAACAGAGTTTAAGTTGTTTTTCTCCACGTGAAGCATAAGCCTGAGCTGAGGTGGGTACTCAGAGAAGGTGCTCTTGTTACTCCCCATGGGTGCAGCCCGAAGGGCCCTTCTGAAAAGTTGGGGAATGTGGCTTGTCATTTCTTGTCAGAGGGTCATGGAGGGCACTCAGCAGCAGGGCCCCAGGAGTCCGAGACTCTGGTTTGTCCCATCTCAGTGTTCAAGGCAGATCTGGGCGGGAGAACAGCACATGATCCCACTTCAGCTAAGAGCACTGTGCCCTCCAGATGCGGTCTGAGGAGACAGCTGACCTGTTGGCTGAAAAGGCCCAGATCACCGAGGAGGAGGCAAAACTTCTGGCCCAGAAGGCCGCAGAGGCTGAGCAGGAAATGCAGCGCATCAAGGCCACAGCGATTCGCACGGAGGAGGAGAAGCGCCTGATGGAGCAGAAGGTGCTGGAAGCCGAGGTGCTGGCACTGAAGATGGCTGAGGAGTCAGAGAGGAGGTGAGGGGGCACCGGGCACCAGACTGGCGAGGAGGCTGGCGAAGGGCCGCAGACCAGCCTGCCCTGAGGCTGAGCTCTACAGCAGTTGTCCTCAAGCTGCTTGCCCATCTTCTGGGCCGTGGGGAGGCTCCTCCTTGGCTGATGGTGACTGGTGCTTTATCCATTTTGGGGCTGGCGCTACTGGTTGGGCACAGGAACTCAGTTCCCCCTCCAGGGGGGCCTCTCTGGTCATACTTGTGTCTCTTTGATAAGCCCCTGTCCCTCTGATGGCCGTGTGTGCAGGAAAACCCCTGAGCATATCCACAGACCGCTTTCAGCTGAAGAGATGTGAGGAGGCTCTTTGTGCATTTAAAAAAAGTGTGGTTCTTTTCTGCTTTCATTCAGTGGGGCT
|
pathogenic
| 325,427 |
Gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor) variant at chromosome position 29673477 on chromosome 22: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Neurofibromatosis,_type_2']
|
TGAGGCAGGAGAATTGATTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAAACTCTGTCCCCTCCACCAAAAAAAAAGAATGCCTTTTTCTATCCGGGTCAAGACTCAACAGGTTTTTATTGTTTGTTCATTTGTTCATTCACCACTAGACTGTTTTTCAAGTGGCACAGCTTTCAACTCTGCAACTGGTTTAGAAGGACGGGGTGGGGGGCAATAAGAATGACCCTGGCTACCTAAAGGAAAGGGAAGGAAAAAGGTCCCAAAAGGGGAGACTGGAGATGGGGCATCTTTGGGCCCTTGTGGCACCCTAGGTCTCGAGCCCTGTGATTCAATGACTGTTTTTCTTCACCCCTCGCAGATGGAGCGGCAGCGCCTCGCTCGAGAGAAGCAGATGAGGGAGGAGGCTGAACGCACGAGGGATGAGTTGGAGAGGAGGCTGCTGCAGATGAAAGAAGAAGCAACAATGGCCAACGAAGCACTGGTGATTTCTGAGGGGCTGGGGTTCCAGGAGGCTACTTGGGGACTTCCTTGGCTTTTCTGGAGCTTGGTCTCCTGAAAACCATGAGTTAGCAGCGTTTGCTTTGAAATACTTAATTTCAGCTTTGAAAAAATCAGTGCCTTTTCTTTTCACCTGTGTTGGCAGAAGCAGATTTAGGTTGAGCTTATGTGCAGCCAAACTCCACTTTCACCACGAGGTTGCCTTTATAGCAGGGCTTCTCAGCCTGGGCACTACTGACATTTGGGGCTGACCATCCTTTGCTGTAGGAACTAGATCCCAGTAGCAGCACCTCACCCTCCATTTGTAACAATCCAAAACATCTTCAGACATTGCCACATGTCTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGTACAGTGGCACGATCTCAGCTTACTGCAATCTTCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGGCATGCATCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTTAGCCACCGTGCCCAGCTGTACTTTTATTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAAGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCGCCAACACATCCAGCTTTTTTTTTTTTGTATTTTTAGTAGAAATGGGTTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAAGGCTGGGATTATAGGCGTGAGCCACCGTGCCCCACCTGCCACATGTCTCTTGCAGGGGACAAAAAACTCCTCTGGTTCTAACCACTGATTTAAAGGGAAAGAACAGAGTTTAAGTTGTTTTTCTCCACGTGAAGCATAAGCCTGAGCTGAGGTGGGTACTCAGAGAAGGTGCTCTTGTTACTCCCCATGGGTGCAGCCCGAAGGGCCCTTCTGAAAAGTTGGGGAATGTGGCTTGTCATTTCTTGTCAGAGGGTCATGGAGGGCACTCAGCAGCAGGGCCCCAGGAGTCCGAGACTCTGGTTTGTCCCATCTCAGTGTTCAAGGCAGATCTGGGCGGGAGAACAGCACATGATCCCACTTCAGCTAAGAGCACTGTGCCCTCCAGATGCGGTCTGAGGAGACAGCTGACCTGTTGGCTGAAAAGGCCCAGATCACCGAGGAGGAGGCAAAACTTCTGGCCCAGAAGGCCGCAGAGGCTGAGCAGGAAATGCAGCGCATCAAGGCCACAGCGATTCGCACGGAGGAGGAGAAGCGCCTGATGGAGCAGAAGGTGCTGGAAGCCGAGGTGCTGGCACTGAAGATGGCTGAGGAGTCAGAGAGGAGGTGAGGGGGCACCGGGCACCAGACTGGCGAGGAGGCTGGCGAAGGGCCGCAGACCAGCCTGCCCTGAGGCTGAGCTCTACAGCAGTTGTCCTCAAGCTGCTTGCCCATCTTCTGGGCCGTGGGGAGGCTCCTCCTTGGCTGATGGTGACTGGTGCTTTATCCATTTTGGGGCTGGCGCTACTGGTTGGGCACAGGAACTCAGTTCCCCCTCCAGGGGGGCCTCTCTGGTCATACTTGTGTCTCTTTGATAAGCCCCTGTCCCTCTGATGGCCGTGTGTGCAGGAAAACCCCTGAGCATATCCACAGACCGCTTTCAGCTGAAGAGATGTGAGGAGGCTCTTTGTGCATTTAAAAAAAGTGTGGTTCTTTTCTGCTTTCATTCAGTGGGGCTGCAGGAGAACAGCAGCTGCCTACCTTTAAAGGGAAGCTAGTGCCTGCATCCCCCAGCCTTTCTTGGCACATGGGGGAGGAGGGCTAGGATGATCTCTGTGACTGGGATGTCCCACTCATGGCCAGGTTGAAGGATGGAACTGTTGTCTGTACTTTTGAAAGACTATTCTAGGCCTGCAACCTTCAGATAAACACTGACACATTCCCCACAGCTTTTGGCTCTGTTGATTTAGAGCACTTGAATTTGGCTTTTAGCTACCAAGGTGCATTCACTACAGTTTTCCTCACCACGCTTTGCATGTCGTTCTGGGAATATGGTTCCTTTTTGCCTGCCCTGCTTCAGGCCCCTTACTGTATTCGGGGGTCACTCCCTGTGCATGATGCAGGTTGGGCCAGGTCCCTGCACCAGGCCTCACATGCCGTGACCACCTGAGCCCCATAGGATGAGGATCTGCACCAGGGTGCGGGTGCCCTCAGTGACTGGGCTCATCTTTCTGCTGGAGAAAGTGGGCACAAGGCCCACTGGTGTTTTATCCGGGGGCTGTGAAGACGCAGTTCTTGCACATTCTGCCCTTTGCGATCCAATATAAGAACTTTGATCCTCCAGGTTCTTCCTTTGCCCAGCTCACTCTCACCCAAAAATAAAGCAGAGAAAGCTGCTGGTGCCCTCTCCAGCTCCTCTGTCTCCTGGCTGCAGAAGGTCTGGTTTCTCTCATTCCCCACCAGTTTTCCTGCTCTTCCAGTTTAGATTTACCAACTCAAACAAAAGTCCTCAGGAATGTTGTCCTTGCTTGGAAGTTCTGATTTCATGTAAATATCCCTGTCTCACTGTCCTTTTTCACCTCTTTGGGTGCCATCCTCAGGGTTAGCCCAGGTCCCTCCTCTGCAGGGGTGGGGTGGTGTCTTTTCCTGCTACCTGCCCTCTTCTGTGAAGCTGACATCTCATCCTTTCCTTGCAGGGCCAAAGAGGCAGATCAGCTGAAGCAGGACCTGCAGGAAGCACGCGAGGCGGAGCGAAGAGCCAAGCAGAAGCTCCTGGAGATTGCCACCAAGCCCACGTACCCGGTGAGCCTGGGGGCCACCAGCTGGGGCTGCCTTAGTCCTGGTGATGTTCTCTTTCCTCCCGGCCCTTCAGTTCATCTGGCGGTGCCTTCAGGGTGACCATTCAGGCAAACACATGGCTGGATGAGAGGTGCAGAGAGCCTGCAGTTAGGGACTGGGTAGAACATCCTGGTCTGCCATTTGGCTTTGGACTAGTTAGTTGTCTCTTTGGTTGCCTGGATAACAGGCAACAGGGCCTTTTCCAGCTCTGGAATGTTTTTCTTTTTCTAAGTAATATAGTCCCAAATTATCCTCAAGAGAATTTGCTCTCTTGCCTCTTAATGCTGAGCTGAATGTAATCTTCAACTATCAGTATATACCATATATCATAATTATAGTTCTGGGAAGGGATTGGCTGTACACCTCAGAGTGAATTACTGCCGTGCAAGAACGAGCAGCCACTCTCAGTTTGGGGACAGAGAGTCAGACTTCCATTAAATGGGGTCACAAAATGAATAGAAGCCTCTTTCCTTCCTTTCTTCTGTGCATTCAGTTTGGCATTTTTTTTTTTTTCATATTTGTTCAGTGTCCACATAGTGCCATGCAG
|
TGAGGCAGGAGAATTGATTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAAACTCTGTCCCCTCCACCAAAAAAAAAGAATGCCTTTTTCTATCCGGGTCAAGACTCAACAGGTTTTTATTGTTTGTTCATTTGTTCATTCACCACTAGACTGTTTTTCAAGTGGCACAGCTTTCAACTCTGCAACTGGTTTAGAAGGACGGGGTGGGGGGCAATAAGAATGACCCTGGCTACCTAAAGGAAAGGGAAGGAAAAAGGTCCCAAAAGGGGAGACTGGAGATGGGGCATCTTTGGGCCCTTGTGGCACCCTAGGTCTCGAGCCCTGTGATTCAATGACTGTTTTTCTTCACCCCTCGCAGATGGAGCGGCAGCGCCTCGCTCGAGAGAAGCAGATGAGGGAGGAGGCTGAACGCACGAGGGATGAGTTGGAGAGGAGGCTGCTGCAGATGAAAGAAGAAGCAACAATGGCCAACGAAGCACTGGTGATTTCTGAGGGGCTGGGGTTCCAGGAGGCTACTTGGGGACTTCCTTGGCTTTTCTGGAGCTTGGTCTCCTGAAAACCATGAGTTAGCAGCGTTTGCTTTGAAATACTTAATTTCAGCTTTGAAAAAATCAGTGCCTTTTCTTTTCACCTGTGTTGGCAGAAGCAGATTTAGGTTGAGCTTATGTGCAGCCAAACTCCACTTTCACCACGAGGTTGCCTTTATAGCAGGGCTTCTCAGCCTGGGCACTACTGACATTTGGGGCTGACCATCCTTTGCTGTAGGAACTAGATCCCAGTAGCAGCACCTCACCCTCCATTTGTAACAATCCAAAACATCTTCAGACATTGCCACATGTCTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGTACAGTGGCACGATCTCAGCTTACTGCAATCTTCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGGCATGCATCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTTAGCCACCGTGCCCAGCTGTACTTTTATTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAAGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCGCGCCAACACATCCAGCTTTTTTTTTTTTGTATTTTTAGTAGAAATGGGTTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAAGGCTGGGATTATAGGCGTGAGCCACCGTGCCCCACCTGCCACATGTCTCTTGCAGGGGACAAAAAACTCCTCTGGTTCTAACCACTGATTTAAAGGGAAAGAACAGAGTTTAAGTTGTTTTTCTCCACGTGAAGCATAAGCCTGAGCTGAGGTGGGTACTCAGAGAAGGTGCTCTTGTTACTCCCCATGGGTGCAGCCCGAAGGGCCCTTCTGAAAAGTTGGGGAATGTGGCTTGTCATTTCTTGTCAGAGGGTCATGGAGGGCACTCAGCAGCAGGGCCCCAGGAGTCCGAGACTCTGGTTTGTCCCATCTCAGTGTTCAAGGCAGATCTGGGCGGGAGAACAGCACATGATCCCACTTCAGCTAAGAGCACTGTGCCCTCCAGATGCGGTCTGAGGAGACAGCTGACCTGTTGGCTGAAAAGGCCCAGATCACCGAGGAGGAGGCAAAACTTCTGGCCCAGAAGGCCGCAGAGGCTGAGCAGGAAATGCAGCGCATCAAGGCCACAGCGATTCGCACGGAGGAGGAGAAGCGCCTGATGGAGCAGAAGGTGCTGGAAGCCGAGGTGCTGGCACTGAAGATGGCTGAGGAGTCAGGAGGTGAGGGGGCACCGGGCACCAGACTGGCGAGGAGGCTGGCGAAGGGCCGCAGACCAGCCTGCCCTGAGGCTGAGCTCTACAGCAGTTGTCCTCAAGCTGCTTGCCCATCTTCTGGGCCGTGGGGAGGCTCCTCCTTGGCTGATGGTGACTGGTGCTTTATCCATTTTGGGGCTGGCGCTACTGGTTGGGCACAGGAACTCAGTTCCCCCTCCAGGGGGGCCTCTCTGGTCATACTTGTGTCTCTTTGATAAGCCCCTGTCCCTCTGATGGCCGTGTGTGCAGGAAAACCCCTGAGCATATCCACAGACCGCTTTCAGCTGAAGAGATGTGAGGAGGCTCTTTGTGCATTTAAAAAAAGTGTGGTTCTTTTCTGCTTTCATTCAGTGGGGCTGCAGGAGAACAGCAGCTGCCTACCTTTAAAGGGAAGCTAGTGCCTGCATCCCCCAGCCTTTCTTGGCACATGGGGGAGGAGGGCTAGGATGATCTCTGTGACTGGGATGTCCCACTCATGGCCAGGTTGAAGGATGGAACTGTTGTCTGTACTTTTGAAAGACTATTCTAGGCCTGCAACCTTCAGATAAACACTGACACATTCCCCACAGCTTTTGGCTCTGTTGATTTAGAGCACTTGAATTTGGCTTTTAGCTACCAAGGTGCATTCACTACAGTTTTCCTCACCACGCTTTGCATGTCGTTCTGGGAATATGGTTCCTTTTTGCCTGCCCTGCTTCAGGCCCCTTACTGTATTCGGGGGTCACTCCCTGTGCATGATGCAGGTTGGGCCAGGTCCCTGCACCAGGCCTCACATGCCGTGACCACCTGAGCCCCATAGGATGAGGATCTGCACCAGGGTGCGGGTGCCCTCAGTGACTGGGCTCATCTTTCTGCTGGAGAAAGTGGGCACAAGGCCCACTGGTGTTTTATCCGGGGGCTGTGAAGACGCAGTTCTTGCACATTCTGCCCTTTGCGATCCAATATAAGAACTTTGATCCTCCAGGTTCTTCCTTTGCCCAGCTCACTCTCACCCAAAAATAAAGCAGAGAAAGCTGCTGGTGCCCTCTCCAGCTCCTCTGTCTCCTGGCTGCAGAAGGTCTGGTTTCTCTCATTCCCCACCAGTTTTCCTGCTCTTCCAGTTTAGATTTACCAACTCAAACAAAAGTCCTCAGGAATGTTGTCCTTGCTTGGAAGTTCTGATTTCATGTAAATATCCCTGTCTCACTGTCCTTTTTCACCTCTTTGGGTGCCATCCTCAGGGTTAGCCCAGGTCCCTCCTCTGCAGGGGTGGGGTGGTGTCTTTTCCTGCTACCTGCCCTCTTCTGTGAAGCTGACATCTCATCCTTTCCTTGCAGGGCCAAAGAGGCAGATCAGCTGAAGCAGGACCTGCAGGAAGCACGCGAGGCGGAGCGAAGAGCCAAGCAGAAGCTCCTGGAGATTGCCACCAAGCCCACGTACCCGGTGAGCCTGGGGGCCACCAGCTGGGGCTGCCTTAGTCCTGGTGATGTTCTCTTTCCTCCCGGCCCTTCAGTTCATCTGGCGGTGCCTTCAGGGTGACCATTCAGGCAAACACATGGCTGGATGAGAGGTGCAGAGAGCCTGCAGTTAGGGACTGGGTAGAACATCCTGGTCTGCCATTTGGCTTTGGACTAGTTAGTTGTCTCTTTGGTTGCCTGGATAACAGGCAACAGGGCCTTTTCCAGCTCTGGAATGTTTTTCTTTTTCTAAGTAATATAGTCCCAAATTATCCTCAAGAGAATTTGCTCTCTTGCCTCTTAATGCTGAGCTGAATGTAATCTTCAACTATCAGTATATACCATATATCATAATTATAGTTCTGGGAAGGGATTGGCTGTACACCTCAGAGTGAATTACTGCCGTGCAAGAACGAGCAGCCACTCTCAGTTTGGGGACAGAGAGTCAGACTTCCATTAAATGGGGTCACAAAATGAATAGAAGCCTCTTTCCTTCCTTTCTTCTGTGCATTCAGTTTGGCATTTTTTTTTTTTTCATATTTGTTCAGTGTCCACATAGTGCCATGCAGNNNN
|
pathogenic
| 325,482 |
Mutation found at chromosome 22 position 29674839, gene NF2 (NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Neurofibromatosis,_type_2']
|
TGTATTTTTAGTAGAAATGGGTTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAAGGCTGGGATTATAGGCGTGAGCCACCGTGCCCCACCTGCCACATGTCTCTTGCAGGGGACAAAAAACTCCTCTGGTTCTAACCACTGATTTAAAGGGAAAGAACAGAGTTTAAGTTGTTTTTCTCCACGTGAAGCATAAGCCTGAGCTGAGGTGGGTACTCAGAGAAGGTGCTCTTGTTACTCCCCATGGGTGCAGCCCGAAGGGCCCTTCTGAAAAGTTGGGGAATGTGGCTTGTCATTTCTTGTCAGAGGGTCATGGAGGGCACTCAGCAGCAGGGCCCCAGGAGTCCGAGACTCTGGTTTGTCCCATCTCAGTGTTCAAGGCAGATCTGGGCGGGAGAACAGCACATGATCCCACTTCAGCTAAGAGCACTGTGCCCTCCAGATGCGGTCTGAGGAGACAGCTGACCTGTTGGCTGAAAAGGCCCAGATCACCGAGGAGGAGGCAAAACTTCTGGCCCAGAAGGCCGCAGAGGCTGAGCAGGAAATGCAGCGCATCAAGGCCACAGCGATTCGCACGGAGGAGGAGAAGCGCCTGATGGAGCAGAAGGTGCTGGAAGCCGAGGTGCTGGCACTGAAGATGGCTGAGGAGTCAGAGAGGAGGTGAGGGGGCACCGGGCACCAGACTGGCGAGGAGGCTGGCGAAGGGCCGCAGACCAGCCTGCCCTGAGGCTGAGCTCTACAGCAGTTGTCCTCAAGCTGCTTGCCCATCTTCTGGGCCGTGGGGAGGCTCCTCCTTGGCTGATGGTGACTGGTGCTTTATCCATTTTGGGGCTGGCGCTACTGGTTGGGCACAGGAACTCAGTTCCCCCTCCAGGGGGGCCTCTCTGGTCATACTTGTGTCTCTTTGATAAGCCCCTGTCCCTCTGATGGCCGTGTGTGCAGGAAAACCCCTGAGCATATCCACAGACCGCTTTCAGCTGAAGAGATGTGAGGAGGCTCTTTGTGCATTTAAAAAAAGTGTGGTTCTTTTCTGCTTTCATTCAGTGGGGCTGCAGGAGAACAGCAGCTGCCTACCTTTAAAGGGAAGCTAGTGCCTGCATCCCCCAGCCTTTCTTGGCACATGGGGGAGGAGGGCTAGGATGATCTCTGTGACTGGGATGTCCCACTCATGGCCAGGTTGAAGGATGGAACTGTTGTCTGTACTTTTGAAAGACTATTCTAGGCCTGCAACCTTCAGATAAACACTGACACATTCCCCACAGCTTTTGGCTCTGTTGATTTAGAGCACTTGAATTTGGCTTTTAGCTACCAAGGTGCATTCACTACAGTTTTCCTCACCACGCTTTGCATGTCGTTCTGGGAATATGGTTCCTTTTTGCCTGCCCTGCTTCAGGCCCCTTACTGTATTCGGGGGTCACTCCCTGTGCATGATGCAGGTTGGGCCAGGTCCCTGCACCAGGCCTCACATGCCGTGACCACCTGAGCCCCATAGGATGAGGATCTGCACCAGGGTGCGGGTGCCCTCAGTGACTGGGCTCATCTTTCTGCTGGAGAAAGTGGGCACAAGGCCCACTGGTGTTTTATCCGGGGGCTGTGAAGACGCAGTTCTTGCACATTCTGCCCTTTGCGATCCAATATAAGAACTTTGATCCTCCAGGTTCTTCCTTTGCCCAGCTCACTCTCACCCAAAAATAAAGCAGAGAAAGCTGCTGGTGCCCTCTCCAGCTCCTCTGTCTCCTGGCTGCAGAAGGTCTGGTTTCTCTCATTCCCCACCAGTTTTCCTGCTCTTCCAGTTTAGATTTACCAACTCAAACAAAAGTCCTCAGGAATGTTGTCCTTGCTTGGAAGTTCTGATTTCATGTAAATATCCCTGTCTCACTGTCCTTTTTCACCTCTTTGGGTGCCATCCTCAGGGTTAGCCCAGGTCCCTCCTCTGCAGGGGTGGGGTGGTGTCTTTTCCTGCTACCTGCCCTCTTCTGTGAAGCTGACATCTCATCCTTTCCTTGCAGGGCCAAAGAGGCAGATCAGCTGAAGCAGGACCTGCAGGAAGCACGCGAGGCGGAGCGAAGAGCCAAGCAGAAGCTCCTGGAGATTGCCACCAAGCCCACGTACCCGGTGAGCCTGGGGGCCACCAGCTGGGGCTGCCTTAGTCCTGGTGATGTTCTCTTTCCTCCCGGCCCTTCAGTTCATCTGGCGGTGCCTTCAGGGTGACCATTCAGGCAAACACATGGCTGGATGAGAGGTGCAGAGAGCCTGCAGTTAGGGACTGGGTAGAACATCCTGGTCTGCCATTTGGCTTTGGACTAGTTAGTTGTCTCTTTGGTTGCCTGGATAACAGGCAACAGGGCCTTTTCCAGCTCTGGAATGTTTTTCTTTTTCTAAGTAATATAGTCCCAAATTATCCTCAAGAGAATTTGCTCTCTTGCCTCTTAATGCTGAGCTGAATGTAATCTTCAACTATCAGTATATACCATATATCATAATTATAGTTCTGGGAAGGGATTGGCTGTACACCTCAGAGTGAATTACTGCCGTGCAAGAACGAGCAGCCACTCTCAGTTTGGGGACAGAGAGTCAGACTTCCATTAAATGGGGTCACAAAATGAATAGAAGCCTCTTTCCTTCCTTTCTTCTGTGCATTCAGTTTGGCATTTTTTTTTTTTTCATATTTGTTCAGTGTCCACATAGTGCCATGCAGTTGGAAGTCTCTATCCTGACAGGTGTTCTCAGGGTGCACAGGTGCCTAGAGGAGGAGGACACAGCCCACCCTGGAGGAGCAGGAGAGGCTCAGTGTGGTGTCTACACTGATGCTTGAAGGGGGAGCAGGAAGTAGCCAGGTGGAGAAGAGAACATAGGGTATTCAGGGTGAGGGCACAGATGCACACATGGCCCAGACTCACACACAGCACAGTCATCTACATGGCACAGACACACACACGTACCCATACATACATTGATGCACATAGCACATCCACACACACAGCACGGACACACACGCACCCATACTTACATTCATGCACATGGCACAGGCACATACATGACCCAGATGCACAAAGGGCACCAGAGGCACAAGCTGCCCAGGGTTTGAGGTGGGGAAAATGTAAGCAGTTTGCTGTTGCCGTATATCCCGGTTCTCCGTTACTGTGTAACAACCCACCCAAGCCAGCTGTGTGGCTTTGTTAGTACCTCTGGTGGCTTGTTGGGTTGACTGGGCCAGACAGAGATCCTTGCTGGGGATCTCTCTGGTGGTCACAGTCAGATGGTAGCTGGGACTGGAGTCGTCTGAGCAGTCAACTGGGCTGAACACCTGAGATGTGTTATGTTTTTATTTTTTATTTTATTTATTATTTTTTTTTTTAGAGAGAGAGAGTTTTATTTACTCTGTCACCCAGGCTGGAATGCGGTGGCAGAATCTCGGCTCACTGCAACCTTAGCCTCATAGGCTCAAGCGATCTTCCCGCCCCAGTCTCCTGAGTAGCTGGGACCACAGACATGCACCACCACGCCCAGCTAATTTTTTTTTTTATTTGGTAGGGACAGGGTTTTGCCATGTTGCCACAGCTGGTCTCAAACTCCCGAGCTCAAGTGATCTGCCTGCCTCAGCTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCTATATGTGTTGTTTTTAAAATATACACTGGAGCAAAGCTTATACACTGCTGTAACTGCTCTTTCCTCTTAGCAGTCAATCCTGAAGGAGATCATCCATATCAGCTTTTTAATCATGTTTTGTTGTGTGGATGGATTGTAATTTATTTAACCAGTCCCTCATGGATGAGTATTTAGTCTGTTTTCTTTTGCAATTTTGAACAAAATGACACTGAACATCCCTGAACACAAATCTTGACACACACACGTGGATATATTGGTAGAATAAATTCTTATAATAGAACTGTGGGGTCAAATTTTCGATTTTGATACTCTCCAAAGAAGTCATACCAGTTCATGCTCTCACTAGTGGTGCAGCAACTAGTACGCGTTTTTGCTGAAAATTTTTATGATGTGTAACATACACATAGAGA
|
TGTATTTTTAGTAGAAATGGGTTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAAGGCTGGGATTATAGGCGTGAGCCACCGTGCCCCACCTGCCACATGTCTCTTGCAGGGGACAAAAAACTCCTCTGGTTCTAACCACTGATTTAAAGGGAAAGAACAGAGTTTAAGTTGTTTTTCTCCACGTGAAGCATAAGCCTGAGCTGAGGTGGGTACTCAGAGAAGGTGCTCTTGTTACTCCCCATGGGTGCAGCCCGAAGGGCCCTTCTGAAAAGTTGGGGAATGTGGCTTGTCATTTCTTGTCAGAGGGTCATGGAGGGCACTCAGCAGCAGGGCCCCAGGAGTCCGAGACTCTGGTTTGTCCCATCTCAGTGTTCAAGGCAGATCTGGGCGGGAGAACAGCACATGATCCCACTTCAGCTAAGAGCACTGTGCCCTCCAGATGCGGTCTGAGGAGACAGCTGACCTGTTGGCTGAAAAGGCCCAGATCACCGAGGAGGAGGCAAAACTTCTGGCCCAGAAGGCCGCAGAGGCTGAGCAGGAAATGCAGCGCATCAAGGCCACAGCGATTCGCACGGAGGAGGAGAAGCGCCTGATGGAGCAGAAGGTGCTGGAAGCCGAGGTGCTGGCACTGAAGATGGCTGAGGAGTCAGAGAGGAGGTGAGGGGGCACCGGGCACCAGACTGGCGAGGAGGCTGGCGAAGGGCCGCAGACCAGCCTGCCCTGAGGCTGAGCTCTACAGCAGTTGTCCTCAAGCTGCTTGCCCATCTTCTGGGCCGTGGGGAGGCTCCTCCTTGGCTGATGGTGACTGGTGCTTTATCCATTTTGGGGCTGGCGCTACTGGTTGGGCACAGGAACTCAGTTCCCCCTCCAGGGGGGCCTCTCTGGTCATACTTGTGTCTCTTTGATAAGCCCCTGTCCCTCTGATGGCCGTGTGTGCAGGAAAACCCCTGAGCATATCCACAGACCGCTTTCAGCTGAAGAGATGTGAGGAGGCTCTTTGTGCATTTAAAAAAAGTGTGGTTCTTTTCTGCTTTCATTCAGTGGGGCTGCAGGAGAACAGCAGCTGCCTACCTTTAAAGGGAAGCTAGTGCCTGCATCCCCCAGCCTTTCTTGGCACATGGGGGAGGAGGGCTAGGATGATCTCTGTGACTGGGATGTCCCACTCATGGCCAGGTTGAAGGATGGAACTGTTGTCTGTACTTTTGAAAGACTATTCTAGGCCTGCAACCTTCAGATAAACACTGACACATTCCCCACAGCTTTTGGCTCTGTTGATTTAGAGCACTTGAATTTGGCTTTTAGCTACCAAGGTGCATTCACTACAGTTTTCCTCACCACGCTTTGCATGTCGTTCTGGGAATATGGTTCCTTTTTGCCTGCCCTGCTTCAGGCCCCTTACTGTATTCGGGGGTCACTCCCTGTGCATGATGCAGGTTGGGCCAGGTCCCTGCACCAGGCCTCACATGCCGTGACCACCTGAGCCCCATAGGATGAGGATCTGCACCAGGGTGCGGGTGCCCTCAGTGACTGGGCTCATCTTTCTGCTGGAGAAAGTGGGCACAAGGCCCACTGGTGTTTTATCCGGGGGCTGTGAAGACGCAGTTCTTGCACATTCTGCCCTTTGCGATCCAATATAAGAACTTTGATCCTCCAGGTTCTTCCTTTGCCCAGCTCACTCTCACCCAAAAATAAAGCAGAGAAAGCTGCTGGTGCCCTCTCCAGCTCCTCTGTCTCCTGGCTGCAGAAGGTCTGGTTTCTCTCATTCCCCACCAGTTTTCCTGCTCTTCCAGTTTAGATTTACCAACTCAAACAAAAGTCCTCAGGAATGTTGTCCTTGCTTGGAAGTTCTGATTTCATGTAAATATCCCTGTCTCACTGTCCTTTTTCACCTCTTTGGGTGCCATCCTCAGGGTTAGCCCAGGTCCCTCCTCTGCAGGGGTGGGGTGGTGTCTTTTCCTGCTACCTGCCCTCTTCTGTGAAGCTGACATCTCATCCTTTCCTTGCAGGGCCAGAGGCAGATCAGCTGAAGCAGGACCTGCAGGAAGCACGCGAGGCGGAGCGAAGAGCCAAGCAGAAGCTCCTGGAGATTGCCACCAAGCCCACGTACCCGGTGAGCCTGGGGGCCACCAGCTGGGGCTGCCTTAGTCCTGGTGATGTTCTCTTTCCTCCCGGCCCTTCAGTTCATCTGGCGGTGCCTTCAGGGTGACCATTCAGGCAAACACATGGCTGGATGAGAGGTGCAGAGAGCCTGCAGTTAGGGACTGGGTAGAACATCCTGGTCTGCCATTTGGCTTTGGACTAGTTAGTTGTCTCTTTGGTTGCCTGGATAACAGGCAACAGGGCCTTTTCCAGCTCTGGAATGTTTTTCTTTTTCTAAGTAATATAGTCCCAAATTATCCTCAAGAGAATTTGCTCTCTTGCCTCTTAATGCTGAGCTGAATGTAATCTTCAACTATCAGTATATACCATATATCATAATTATAGTTCTGGGAAGGGATTGGCTGTACACCTCAGAGTGAATTACTGCCGTGCAAGAACGAGCAGCCACTCTCAGTTTGGGGACAGAGAGTCAGACTTCCATTAAATGGGGTCACAAAATGAATAGAAGCCTCTTTCCTTCCTTTCTTCTGTGCATTCAGTTTGGCATTTTTTTTTTTTTCATATTTGTTCAGTGTCCACATAGTGCCATGCAGTTGGAAGTCTCTATCCTGACAGGTGTTCTCAGGGTGCACAGGTGCCTAGAGGAGGAGGACACAGCCCACCCTGGAGGAGCAGGAGAGGCTCAGTGTGGTGTCTACACTGATGCTTGAAGGGGGAGCAGGAAGTAGCCAGGTGGAGAAGAGAACATAGGGTATTCAGGGTGAGGGCACAGATGCACACATGGCCCAGACTCACACACAGCACAGTCATCTACATGGCACAGACACACACACGTACCCATACATACATTGATGCACATAGCACATCCACACACACAGCACGGACACACACGCACCCATACTTACATTCATGCACATGGCACAGGCACATACATGACCCAGATGCACAAAGGGCACCAGAGGCACAAGCTGCCCAGGGTTTGAGGTGGGGAAAATGTAAGCAGTTTGCTGTTGCCGTATATCCCGGTTCTCCGTTACTGTGTAACAACCCACCCAAGCCAGCTGTGTGGCTTTGTTAGTACCTCTGGTGGCTTGTTGGGTTGACTGGGCCAGACAGAGATCCTTGCTGGGGATCTCTCTGGTGGTCACAGTCAGATGGTAGCTGGGACTGGAGTCGTCTGAGCAGTCAACTGGGCTGAACACCTGAGATGTGTTATGTTTTTATTTTTTATTTTATTTATTATTTTTTTTTTTAGAGAGAGAGAGTTTTATTTACTCTGTCACCCAGGCTGGAATGCGGTGGCAGAATCTCGGCTCACTGCAACCTTAGCCTCATAGGCTCAAGCGATCTTCCCGCCCCAGTCTCCTGAGTAGCTGGGACCACAGACATGCACCACCACGCCCAGCTAATTTTTTTTTTTATTTGGTAGGGACAGGGTTTTGCCATGTTGCCACAGCTGGTCTCAAACTCCCGAGCTCAAGTGATCTGCCTGCCTCAGCTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCAGCCTATATGTGTTGTTTTTAAAATATACACTGGAGCAAAGCTTATACACTGCTGTAACTGCTCTTTCCTCTTAGCAGTCAATCCTGAAGGAGATCATCCATATCAGCTTTTTAATCATGTTTTGTTGTGTGGATGGATTGTAATTTATTTAACCAGTCCCTCATGGATGAGTATTTAGTCTGTTTTCTTTTGCAATTTTGAACAAAATGACACTGAACATCCCTGAACACAAATCTTGACACACACACGTGGATATATTGGTAGAATAAATTCTTATAATAGAACTGTGGGGTCAAATTTTCGATTTTGATACTCTCCAAAGAAGTCATACCAGTTCATGCTCTCACTAGTGGTGCAGCAACTAGTACGCGTTTTTGCTGAAAATTTTTATGATGTGTAACATACACATAGAGANN
|
pathogenic
| 325,486 |
Does the chromosome 22 mutation at position 30607368 within gene TCN2 classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Transcobalamin_II_deficiency']
|
TGTCTTCCTATTCCTACTCCCCCACCCTCTAGCACTGAGTCCAGGTAGGTAGGCAGGGGGGTGTCTCCCTCCTTTACTTCGACACCCTAACTACCTTGGGGATCAGAAGTGACTCTCTGGAAGGATGCTGCTGCTTCTCACCAGAGGCTGACGATAACGAAGGCTATCCTCCATGGCCACCTCCTCCAGGCTGCCTTCCTGGAAATAGGAATCATAATAGTTGTTACTGGAAACAGGCAGAGGGTTGGGGGAGCCAAGGCAGTCCCACCCAGGACCAAGGTGGCTCCATTGCACACACTTCACCATGACTCCCCTGAAGGTCCAAACGTGCGGTTCTGCGGAAGTTGGGCTCCCCACTGGCCTCCCTCCTTCCTCAGAACCTCCAGGGGTGCTCCTCCTAGTGGCCACATCCAGCCTTTCTGACTGGACAACCTATCATTTAAAATTTTCAAGTAGTTCCGTAAACAGACACACGTTGCTGTATTTATTTATGTCAAGGGCTTGGTTTGTGATAAATCAGGCTCAAAAAGATTGTCTTAAAAGAGTGAACCTTGGCAATTTACCATAAAATAATTGCAATGCAGATTGTGCATGGAAATGATTGGAGATATTTTAAGGTCATAGTGTCTTCACAAATTGAGCTGAAAGGGAACTGTTAGGATGATCTTGCCTAACCCTCTCTTCTCACACAGGAAGAACTATTTTAAACTCGAGAGGTTAAGTGACCTGGCCAAAGTCACACAGCCACCACTAGTTAACTCGTATACATTGATTCTCCTGTGGGGCTGGGCAGATGAGGAATCTTTTGTTCTCTTCCCTGTTTGCAGAGATTTTTTTTGAGGTTACTTTCCGAGTTCTGGCAAGTACCCCTGCTTCTGGTAGCTTTGTGTCTCGATTCAATCTCATTCTTTTTATTTTATTTTATTTTTGAGACAGGGTCTCACTTTGTCACCCAAGCTGGAGTGCAGTGGTGTAATCTTGGCTCACTGTAGCCTCCACCTCTTGGGTTCAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGGGATTACAGACGTCTGCCACCACGCCAGGCTAATTTATGGTTTTTTGTATGTGTTTTTTGTGTTTTTGTAGAGACAGTGTTTCCCCATGTTGCCCAGGCTGGTCTCCAACTCCTGAGCTCAAGTGATCTGCCCGCCTCAGCCTTTCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCGGACTTAATCCCATTCTTTAACTTGTTTTGTTTTGTCCTCTCCAGGAGGCTCCCAGCCCTTTCGGATTGGTTGAGAAAAGTGGCCTGGCTGGTCTGGGGCCAGCGGCACCCACCCTCCCCTCAATTGCCCAACTCCCCCCCCCCACCGAACTGCCCAACTCCCCCTCCCCAACTGCCCAACTCCCCCACCCCCACAATCCCCTCCCGCCACAACTGAGGGAGGCGGTGCTGAAAAACAGCTGACTCCAGCAATGCTGCTCACGTGACCACTGCAGCTGCAGCTCCCGTTCCACTCCTTGTCCTGGGCTAGGTGGGCACTACCAGGGGCTCCTTTGGTAAGGAGTACCGGGTAGGCACCCGGTCCTGCCAATCCACCACTGGAACAGCTGGGGGGACAGCAGACAGGCACGGTCGGACAGACTTGACAGATCAGGCATCAGGCCCTCTGCGCTGGTCCCGGGCTCTTTAAGCAGGAACGTGAATGGCCTCAAGATGTCTCACATGGTCCCACTAGCCCTCCTCCTCCCTTTGTTCCCTACCTCCAGGAGGGCTGCTCTGCCCTTCCTTCCTCTGTTCTTTGGCCTTATGTTCCCCGCCACCACAGACCTTCCCCCGCCCCACCCCTCTGCAGACTTAGCCGTGCATTGCAGGCATGGAGGATTAATCAGTGACAGGAAGCTGCGTCTCTCGGAGCGGTGACCAGCTGTGGTCAGGAGAGCCTCAGCAGGGCCAGCCCCAGGAGTCTTTCCCGATTCTTGCTCACTGCTCACCCACCTGCTGCTGCCATGAGGCACCTTGGGGCCTTCCTCTTCCTTCTGGGGGTCCTGGGGGCCCTCACTGAGATGTGTGGTGAGTAACTCGCCTCTATCCTGTGCCTCTTTCCTCCTGGGTCCTTAGTGGGGTGGCTAGGGCATAGGATGAGGGAACTTACCTGCCCTTCTAAGCTCCCATAGCAGTTTGGGCTTAGCTGGACCTCAGCATTTAACACATCCTATTGTGATTGATTATATGTTTGACTCCTCACCAGACAAGATCTCCGTTAATTCAGTCATTCGTTCACACATTCATTCAGCGCATACTGAGCCTTTTCTGTGTCAGGCCCAGTGTTAGCCTTTGGGGAACGTGCAAAGCATGAGACAAGTCTAATCCCTGCCATCCTAGAGCTTATGTTCTAGGGAAGGGGGACAGACAAAAGAAATGGTTAGGTGCTCCCACCTGAAATCTCAGCATTTTGGAAGGCTGAGGCGGGAGGGGAGGATCGCTTGAGCTCAACAGTTCAAGGTCAGCCTGGGCAACATAGGGAGACCCCATCTCTACAAAAAATAAAAAAAATTAAAAAATAGCTGGGCATGGGGAAGACTTTCTGAAGACCAAGAGGACACATGGGAGCTGAAACTCGAAGGAAGAAAAGGAGCTGGCAGGAAAGGAGTGGGGGACACACATTCTAGGCAGCAGGAAGTGAGCCTTCGGAGGTCCTGCCTGCTCCAGCTCTGTGCCCCAAGGGGTCTCTTGGAGCACAGTCTCCTGGGACCTGTCTATGAGTCTGAGCTTAGAGGCTCAGGGCTGCTCCTTCAGACAGGAGGCAGAAGGCAGGCTTTGGGAACTTTGGGCCGCCCACGCGCCTTTTCTCCTCCTCTGCACCTAGGATTACGTTGAGCAATACACTTTCACCCCCATGGTCTCTTGAGACCCTGGGGAAACCCTGAGAGGTGGGTGCAGTCATGTCCAGGTGTCAAGTGAAGAAGTCGAGGGTTGGAGGGGCTGAGTGACCCACTCAGGGTGCTCCACCTTTTCCAGAGCTTTGCTGAACTTAGTTTTTAGAACTTGAAGCCTCGTTTGTTTTCGTTTTGTTTTTTGTTGAGAGAGGTTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTTGTGGGTTCAAGTGATTCCCCCACCTCAGCCTCCCAAGTAGCTGGAGACTGCATGTGCATACTACCATGCTTGGCTAATTTTTGTATTTTTTTGTAGAGACAGGGTTTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGAAACTCTTGCGTCGGCCTCCCAAATTGCTGAGATTACAGGCGTGAGCCACCGTGCCCGGCCAGAACTCCAAGCCTCTCATCTGTGTTCCATAAATGCAATCAGACACCTCAGGTCTGGGCCCAGGAACCCCAGCTCTTGGTTCATGTCCGGACAGTCCCCAGGGGAGTTCTGGGTTCAACCAGCAAGAGCTCTTCCTCCTGGCTGATCTGGTCCTCAGCCTTGGACAGTTAGTCCATTAACCTGACCCCACAGGAGCCCCAATCCCTTGGGGTCTGGGGAATCTTGAACTGGGGTTTGGGGTGCAAATATCTGCACTGAGTCACTTAATTGCACCCAGCCTCATTCCTTTATCTGTAAAGTGGGCTAAGAATGCTCCCCTGCCTTCCTCCTCGGTGTAGTACAAGGAAGGATCCCATGACACCTGCTCTCCCAGTTTAAAGCTCTATATGTATGTTGTGAAATTGACAGGGATCGCTGCACAAACGCTAATGCAAAGTGGGCTCCTGTGCTTCCTTTTCTCTTTCTTCTTCTTTTTTTTTTTTTTAATTTTCTTCTAGAGATGAGGTCTCACTATATTGCCCAGGGTTGGTTTCAAACTCCTAGGGTCAAGCGATCCTCCCACCTTGGCCTCCCAAACTGCTGGTATTACAGGCGTGAGCCACTCTGTCTGGCTCCTGTGCTTGTGAATGTCAACAGCAATCAGCCCTTAGCTGGCAGGGCTGGGTTGGTAGGGCGAGAGCTCACCCAAGGCTGCTTTTATTACCCTGCGTGAATCTGCCTGGCCCC
|
TGTCTTCCTATTCCTACTCCCCCACCCTCTAGCACTGAGTCCAGGTAGGTAGGCAGGGGGGTGTCTCCCTCCTTTACTTCGACACCCTAACTACCTTGGGGATCAGAAGTGACTCTCTGGAAGGATGCTGCTGCTTCTCACCAGAGGCTGACGATAACGAAGGCTATCCTCCATGGCCACCTCCTCCAGGCTGCCTTCCTGGAAATAGGAATCATAATAGTTGTTACTGGAAACAGGCAGAGGGTTGGGGGAGCCAAGGCAGTCCCACCCAGGACCAAGGTGGCTCCATTGCACACACTTCACCATGACTCCCCTGAAGGTCCAAACGTGCGGTTCTGCGGAAGTTGGGCTCCCCACTGGCCTCCCTCCTTCCTCAGAACCTCCAGGGGTGCTCCTCCTAGTGGCCACATCCAGCCTTTCTGACTGGACAACCTATCATTTAAAATTTTCAAGTAGTTCCGTAAACAGACACACGTTGCTGTATTTATTTATGTCAAGGGCTTGGTTTGTGATAAATCAGGCTCAAAAAGATTGTCTTAAAAGAGTGAACCTTGGCAATTTACCATAAAATAATTGCAATGCAGATTGTGCATGGAAATGATTGGAGATATTTTAAGGTCATAGTGTCTTCACAAATTGAGCTGAAAGGGAACTGTTAGGATGATCTTGCCTAACCCTCTCTTCTCACACAGGAAGAACTATTTTAAACTCGAGAGGTTAAGTGACCTGGCCAAAGTCACACAGCCACCACTAGTTAACTCGTATACATTGATTCTCCTGTGGGGCTGGGCAGATGAGGAATCTTTTGTTCTCTTCCCTGTTTGCAGAGATTTTTTTTGAGGTTACTTTCCGAGTTCTGGCAAGTACCCCTGCTTCTGGTAGCTTTGTGTCTCGATTCAATCTCATTCTTTTTATTTTATTTTATTTTTGAGACAGGGTCTCACTTTGTCACCCAAGCTGGAGTGCAGTGGTGTAATCTTGGCTCACTGTAGCCTCCACCTCTTGGGTTCAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGGGATTACAGACGTCTGCCACCACGCCAGGCTAATTTATGGTTTTTTGTATGTGTTTTTTGTGTTTTTGTAGAGACAGTGTTTCCCCATGTTGCCCAGGCTGGTCTCCAACTCCTGAGCTCAAGTGATCTGCCCGCCTCAGCCTTTCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCGGACTTAATCCCATTCTTTAACTTGTTTTGTTTTGTCCTCTCCAGGAGGCTCCCAGCCCTTTCGGATTGGTTGAGAAAAGTGGCCTGGCTGGTCTGGGGCCAGCGGCACCCACCCTCCCCTCAATTGCCCAACTCCCCCCCCCCACCGAACTGCCCAACTCCCCCTCCCCAACTGCCCAACTCCCCCACCCCCACAATCCCCTCCCGCCACAACTGAGGGAGGCGGTGCTGAAAAACAGCTGACTCCAGCAATGCTGCTCACGTGACCACTGCAGCTGCAGCTCCCGTTCCACTCCTTGTCCTGGGCTAGGTGGGCACTACCAGGGGCTCCTTTGGTAAGGAGTACCGGGTAGGCACCCGGTCCTGCCAATCCACCACTGGAACAGCTGGGGGGACAGCAGACAGGCACGGTCGGACAGACTTGACAGATCAGGCATCAGGCCCTCTGCGCTGGTCCCGGGCTCTTTAAGCAGGAACGTGAATGGCCTCAAGATGTCTCACATGGTCCCACTAGCCCTCCTCCTCCCTTTGTTCCCTACCTCCAGGAGGGCTGCTCTGCCCTTCCTTCCTCTGTTCTTTGGCCTTATGTTCCCCGCCACCACAGACCTTCCCCCGCCCCACCCCTCTGCAGACTTAGCCGTGCATTGCAGGCATGGAGGATTAATCAGTGACAGGAAGCTGCGTCTCTCGGAGCGGTGACCAGCTGTGGTCAGGAGAGCCTCAGCAGGGCCAGCCCCAGGAGTCTTTCCCGATTCTTGCTCACTGCTCACCCACCTGCTGCTGCCATGAGGCACCTTGGGGCCTTCCTCTTCCTTCTGGGGGCCTGGGGGCCCTCACTGAGATGTGTGGTGAGTAACTCGCCTCTATCCTGTGCCTCTTTCCTCCTGGGTCCTTAGTGGGGTGGCTAGGGCATAGGATGAGGGAACTTACCTGCCCTTCTAAGCTCCCATAGCAGTTTGGGCTTAGCTGGACCTCAGCATTTAACACATCCTATTGTGATTGATTATATGTTTGACTCCTCACCAGACAAGATCTCCGTTAATTCAGTCATTCGTTCACACATTCATTCAGCGCATACTGAGCCTTTTCTGTGTCAGGCCCAGTGTTAGCCTTTGGGGAACGTGCAAAGCATGAGACAAGTCTAATCCCTGCCATCCTAGAGCTTATGTTCTAGGGAAGGGGGACAGACAAAAGAAATGGTTAGGTGCTCCCACCTGAAATCTCAGCATTTTGGAAGGCTGAGGCGGGAGGGGAGGATCGCTTGAGCTCAACAGTTCAAGGTCAGCCTGGGCAACATAGGGAGACCCCATCTCTACAAAAAATAAAAAAAATTAAAAAATAGCTGGGCATGGGGAAGACTTTCTGAAGACCAAGAGGACACATGGGAGCTGAAACTCGAAGGAAGAAAAGGAGCTGGCAGGAAAGGAGTGGGGGACACACATTCTAGGCAGCAGGAAGTGAGCCTTCGGAGGTCCTGCCTGCTCCAGCTCTGTGCCCCAAGGGGTCTCTTGGAGCACAGTCTCCTGGGACCTGTCTATGAGTCTGAGCTTAGAGGCTCAGGGCTGCTCCTTCAGACAGGAGGCAGAAGGCAGGCTTTGGGAACTTTGGGCCGCCCACGCGCCTTTTCTCCTCCTCTGCACCTAGGATTACGTTGAGCAATACACTTTCACCCCCATGGTCTCTTGAGACCCTGGGGAAACCCTGAGAGGTGGGTGCAGTCATGTCCAGGTGTCAAGTGAAGAAGTCGAGGGTTGGAGGGGCTGAGTGACCCACTCAGGGTGCTCCACCTTTTCCAGAGCTTTGCTGAACTTAGTTTTTAGAACTTGAAGCCTCGTTTGTTTTCGTTTTGTTTTTTGTTGAGAGAGGTTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAGCCTCTGCCTTGTGGGTTCAAGTGATTCCCCCACCTCAGCCTCCCAAGTAGCTGGAGACTGCATGTGCATACTACCATGCTTGGCTAATTTTTGTATTTTTTTGTAGAGACAGGGTTTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGAAACTCTTGCGTCGGCCTCCCAAATTGCTGAGATTACAGGCGTGAGCCACCGTGCCCGGCCAGAACTCCAAGCCTCTCATCTGTGTTCCATAAATGCAATCAGACACCTCAGGTCTGGGCCCAGGAACCCCAGCTCTTGGTTCATGTCCGGACAGTCCCCAGGGGAGTTCTGGGTTCAACCAGCAAGAGCTCTTCCTCCTGGCTGATCTGGTCCTCAGCCTTGGACAGTTAGTCCATTAACCTGACCCCACAGGAGCCCCAATCCCTTGGGGTCTGGGGAATCTTGAACTGGGGTTTGGGGTGCAAATATCTGCACTGAGTCACTTAATTGCACCCAGCCTCATTCCTTTATCTGTAAAGTGGGCTAAGAATGCTCCCCTGCCTTCCTCCTCGGTGTAGTACAAGGAAGGATCCCATGACACCTGCTCTCCCAGTTTAAAGCTCTATATGTATGTTGTGAAATTGACAGGGATCGCTGCACAAACGCTAATGCAAAGTGGGCTCCTGTGCTTCCTTTTCTCTTTCTTCTTCTTTTTTTTTTTTTTAATTTTCTTCTAGAGATGAGGTCTCACTATATTGCCCAGGGTTGGTTTCAAACTCCTAGGGTCAAGCGATCCTCCCACCTTGGCCTCCCAAACTGCTGGTATTACAGGCGTGAGCCACTCTGTCTGGCTCCTGTGCTTGTGAATGTCAACAGCAATCAGCCCTTAGCTGGCAGGGCTGGGTTGGTAGGGCGAGAGCTCACCCAAGGCTGCTTTTATTACCCTGCGTGAATCTGCCTGGCCCCN
|
pathogenic
| 325,587 |
Is the genetic mutation found on chromosome 22 at position 30610870, within the gene TCN2 (transcobalamin 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Transcobalamin_II_deficiency']
|
TCCTCCTGGCTGATCTGGTCCTCAGCCTTGGACAGTTAGTCCATTAACCTGACCCCACAGGAGCCCCAATCCCTTGGGGTCTGGGGAATCTTGAACTGGGGTTTGGGGTGCAAATATCTGCACTGAGTCACTTAATTGCACCCAGCCTCATTCCTTTATCTGTAAAGTGGGCTAAGAATGCTCCCCTGCCTTCCTCCTCGGTGTAGTACAAGGAAGGATCCCATGACACCTGCTCTCCCAGTTTAAAGCTCTATATGTATGTTGTGAAATTGACAGGGATCGCTGCACAAACGCTAATGCAAAGTGGGCTCCTGTGCTTCCTTTTCTCTTTCTTCTTCTTTTTTTTTTTTTTAATTTTCTTCTAGAGATGAGGTCTCACTATATTGCCCAGGGTTGGTTTCAAACTCCTAGGGTCAAGCGATCCTCCCACCTTGGCCTCCCAAACTGCTGGTATTACAGGCGTGAGCCACTCTGTCTGGCTCCTGTGCTTGTGAATGTCAACAGCAATCAGCCCTTAGCTGGCAGGGCTGGGTTGGTAGGGCGAGAGCTCACCCAAGGCTGCTTTTATTACCCTGCGTGAATCTGCCTGGCCCCTTCCTTCTAAGGAGGTTGCTCTGTGGTTGTCAGTCTCTCCCTTTACAGCTGGATCCTGATCTTTCAGTTTCTAACCCTGTGCTGACTCATCGTGCTGGAAGTGAGAGCCCGGGGTGAGGTCAGGGAACTCCCTTGCGCGTTTCAAGAAAAGGGAAAAGGAAAGAGAGGTGAGGAGGGGGGCAGATGACCAGAGAGACACAGGCTGAGAGAGACTGAGACAGACCCAGAGAGCCTCACACATTGAGTGACAGAGACGGAGAAATGGAGATAGGCACCAAAAAATGGTTCTCAGTGACAGAAAGGGAAAAAAGCAACCCCCCAGTCTCTCTTAACATCTGGTGAGAAACCAGCCATGTGCTTTGGTCTGGGCCCACACAGCAAAGGATTATGTAGGGTTTCATGCTGGTGGATGGTCACCTTATAGCAACAGGTATCTGGGGCTGTCGGGAAAACAGACACGAGGTTGTGGGACCCAGACCCACAGAGATGGAGCTGTTCTAGGAGCTCTGGTCCTCGTTCTGGTCCCCTGGGATATGGCACAGTGAAGGCCACCATCAGGCAGCTGGAGCCCAGCAGCAACTGGGAGGCAGTAAACAGGGACCGAAAGTGCAAGGTTACCTCCGAGGCAAACTACTCTAAGCTACCCTGTGCTGAGCTCAAGTCCCTTGGAACTATCCCTAAGGCTTCCGCTTCCAGAGTGTTTGAGTATTTTCGTTGCACAGCTTCGAATAAATCCCACAGCAACAGGTAAACGGCTGCAAGCTGTGACTGTTTTCTAAGAGCTCATCTCACAATCTCAGGTCCTCTTCATTTAAACAGAGATGGCAGGAAAGGCGTTATTTTGAGATCTGCATGGAGGAAGTTCACCAGGCAGCCTCAATTCACCAGCTGGAAGTTTGCGTTGTTTGGAAATTTGATGTGTAACACGTTCTGCATGTGGGCTGATGTTTTTGTAAACGGGTAGCACACACATTCAGCAGGGCACCAAAGAGCGGGGGCTTTGCAGTTAGGTCCATCCTTGGCTCTGCAGCCTTGTGTAAGACATGACACGACTTTGAACTTCTGTTTCCTCTTCTGTGCAAAGCAATGATGACAGTATCTACATCACAGGACTGGCATGAGGACCAAGTGAGATTGGGCAAGGTGCCCGGGCACACCAGTCTCACTGTCACTGCTGATGGGCAGAGTGGTTGCCTGGCAGTAGCATCCTCTATCTTCAGCCCACCACCTCTCTTGCTGGCTCACTCCAACTGCTCTTTAGAGATACACGCTTCCCCTCTTTTCTCCTCCCACTGCCTTTCAGTATGGCTGCATTTCCCCCTGCAAGTTGGTGTGTGCTGGGTGGAGGTGGGGGTGAGGACATGTATTCTCTGGAGAAGGCCCTGGTAACGTCAAAGCACTTCTTTGCTGGTGGCCTGGCCCTGTGACCTCATTTGTACCATTTTCTTTTCTAAGAAATACCAGAGATGGACAGCCATCTGGTAGAGAAGTTGGGCCAGCACCTCTTACCTTGGATGGACCGGCTTTCCCTGGAGCACTTGAACCCCAGCATCTATGTGGGCCTACGCCTCTCCAGTCTGCAGGCTGGGACCAAGGAAGACCTCTACCTGCACAGCCTCAAGCTTGGTTACCAGCAGTGCCTCCTAGGGTATTGCCACACTCTCTTTTTCCATGTCTTGCTCCACATACTAAGAGATGGGAAACTTGGGTACTAGTTTGGGCCTGTCACCACTTTGTGGGCAGACCTTAGGCAAATTTTCTCCATCTATAGAATGGAGGACCTTTGTCCATCTATAGAATGAAGGGGTTGGTTGGATTAGATCAGAGATGCTAATGCAAGGCTCCTTTTGCTACTACTGTCCATCATGTGTCTGAGGCAGACATAACTAATCCGTGACTATACTCTTTGATGATGAGCCCAGGAGCAGCATCTGACTCTATGCTCCCTTAGTGTGCCTGAGGCAGATATCACTAATCGATGACTGCAGTCTTCTACATTGAGCTTAGAAGCAGCATCTGACTCTGTATGCTCCCCTCCCATGCATGAGGCAGACATCAGTAATCCATGACCGCATTCTTTCATACTGAGCCCAGAAGCAGCATCTTTTCTTTTCTTTCCTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCACAATCTTGGCTTGCCCCAACCTCCAATTCCCGGGTTCAAGTGATTCTCGTGCCTCAGCCACCTGAATAGCTGGGATTACAGGCGTGTGCCACCATGCCCAGCTGATTTTTGTATTTTTGGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTTGGCTTCCCAAAGTGTTGGGATTATAGGCATGAGCCACTGCACCAATCCAAAAGCAGCATCTTTGTGCTCCCTTTTCAAGAGGCATCACAGAGAGGCCTGTTTTGGGGTTTGAATGAGAGGCGAAGAATCAGCCATGGAGTGCCTCTTTCTCAGACTCCCTCTTGAGAAGTGGATGCAGGGGTGGAGAGAAAAGAAGACTAGGCATAGTGGCTCATACCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGAAGATTGCTTGAGCTCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCACATCTCTTAAAAAAAAGAAAAAGAAAAAAAATGAGCCAGGTGTAGTGACTCATGCCTGTGGTCCCCACTTCTCCGGAGGCAAAGGTGGGAGGATCTTTTGAGGCTGAGAAATCGAGGCTACAGTGAGCCATGGTGGCACCACTGCACTCCAGCCTGGGAGACAGAGAGACCCTATCTCAGTAAAAAAAAAAAATAAAAATATGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGTAGATCACATGAGGTTAGGAGTTCGAAACCAGTCTGGCCAACATAGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTAGCCAAGGGTGGTGGTGGGCAACTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGAAGAATCGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCTGAGAACATGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAGAAAATAAATAAATAAAATAAAAAAATAAAAAAGGAGGGGGCATATGGGTGAAGTATGGACAAAATAGTGGGGCAGGCACAGATGATCTGGACACAGGAGCCCTTGGAGTTTATTCTTGAATCTAACTGTTCATCTTTATTAAATATTTGTGGCATACACCTCACAACAACATAGCCAACACACCTCCTTTTGGAGCTTTTATCAAAGTTTCCCACTGTTAAGATTTTTTCCCGCTTTGTGATGCGGGTGGGGTGGGTGCTGTAAGCAGGCTTACGGGGTGGCAGTTTCTCACAAAGGCATTAACTGGCCTTGTCCTAGGTCTGCCTTCAGCGAGGATGACGGTGACTGCCAGGGCAAGCCTTC
|
TCCTCCTGGCTGATCTGGTCCTCAGCCTTGGACAGTTAGTCCATTAACCTGACCCCACAGGAGCCCCAATCCCTTGGGGTCTGGGGAATCTTGAACTGGGGTTTGGGGTGCAAATATCTGCACTGAGTCACTTAATTGCACCCAGCCTCATTCCTTTATCTGTAAAGTGGGCTAAGAATGCTCCCCTGCCTTCCTCCTCGGTGTAGTACAAGGAAGGATCCCATGACACCTGCTCTCCCAGTTTAAAGCTCTATATGTATGTTGTGAAATTGACAGGGATCGCTGCACAAACGCTAATGCAAAGTGGGCTCCTGTGCTTCCTTTTCTCTTTCTTCTTCTTTTTTTTTTTTTTAATTTTCTTCTAGAGATGAGGTCTCACTATATTGCCCAGGGTTGGTTTCAAACTCCTAGGGTCAAGCGATCCTCCCACCTTGGCCTCCCAAACTGCTGGTATTACAGGCGTGAGCCACTCTGTCTGGCTCCTGTGCTTGTGAATGTCAACAGCAATCAGCCCTTAGCTGGCAGGGCTGGGTTGGTAGGGCGAGAGCTCACCCAAGGCTGCTTTTATTACCCTGCGTGAATCTGCCTGGCCCCTTCCTTCTAAGGAGGTTGCTCTGTGGTTGTCAGTCTCTCCCTTTACAGCTGGATCCTGATCTTTCAGTTTCTAACCCTGTGCTGACTCATCGTGCTGGAAGTGAGAGCCCGGGGTGAGGTCAGGGAACTCCCTTGCGCGTTTCAAGAAAAGGGAAAAGGAAAGAGAGGTGAGGAGGGGGGCAGATGACCAGAGAGACACAGGCTGAGAGAGACTGAGACAGACCCAGAGAGCCTCACACATTGAGTGACAGAGACGGAGAAATGGAGATAGGCACCAAAAAATGGTTCTCAGTGACAGAAAGGGAAAAAAGCAACCCCCCAGTCTCTCTTAACATCTGGTGAGAAACCAGCCATGTGCTTTGGTCTGGGCCCACACAGCAAAGGATTATGTAGGGTTTCATGCTGGTGGATGGTCACCTTATAGCAACAGGTATCTGGGGCTGTCGGGAAAACAGACACGAGGTTGTGGGACCCAGACCCACAGAGATGGAGCTGTTCTAGGAGCTCTGGTCCTCGTTCTGGTCCCCTGGGATATGGCACAGTGAAGGCCACCATCAGGCAGCTGGAGCCCAGCAGCAACTGGGAGGCAGTAAACAGGGACCGAAAGTGCAAGGTTACCTCCGAGGCAAACTACTCTAAGCTACCCTGTGCTGAGCTCAAGTCCCTTGGAACTATCCCTAAGGCTTCCGCTTCCAGAGTGTTTGAGTATTTTCGTTGCACAGCTTCGAATAAATCCCACAGCAACAGGTAAACGGCTGCAAGCTGTGACTGTTTTCTAAGAGCTCATCTCACAATCTCAGGTCCTCTTCATTTAAACAGAGATGGCAGGAAAGGCGTTATTTTGAGATCTGCATGGAGGAAGTTCACCAGGCAGCCTCAATTCACCAGCTGGAAGTTTGCGTTGTTTGGAAATTTGATGTGTAACACGTTCTGCATGTGGGCTGATGTTTTTGTAAACGGGTAGCACACACATTCAGCAGGGCACCAAAGAGCGGGGGCTTTGCAGTTAGGTCCATCCTTGGCTCTGCAGCCTTGTGTAAGACATGACACGACTTTGAACTTCTGTTTCCTCTTCTGTGCAAAGCAATGATGACAGTATCTACATCACAGGACTGGCATGAGGACCAAGTGAGATTGGGCAAGGTGCCCGGGCACACCAGTCTCACTGTCACTGCTGATGGGCAGAGTGGTTGCCTGGCAGTAGCATCCTCTATCTTCAGCCCACCACCTCTCTTGCTGGCTCACTCCAACTGCTCTTTAGAGATACACGCTTCCCCTCTTTTCTCCTCCCACTGCCTTTCAGTATGGCTGCATTTCCCCCTGCAAGTTGGTGTGTGCTGGGTGGAGGTGGGGGTGAGGACATGTATTCTCTGGAGAAGGCCCTGGTAACGTCAAAGCACTTCTTTGCTGGTGGCCTGGCCCTGTGACCTCATTTGTACCATTTTCTTTTCTAATTAATACCAGAGATGGACAGCCATCTGGTAGAGAAGTTGGGCCAGCACCTCTTACCTTGGATGGACCGGCTTTCCCTGGAGCACTTGAACCCCAGCATCTATGTGGGCCTACGCCTCTCCAGTCTGCAGGCTGGGACCAAGGAAGACCTCTACCTGCACAGCCTCAAGCTTGGTTACCAGCAGTGCCTCCTAGGGTATTGCCACACTCTCTTTTTCCATGTCTTGCTCCACATACTAAGAGATGGGAAACTTGGGTACTAGTTTGGGCCTGTCACCACTTTGTGGGCAGACCTTAGGCAAATTTTCTCCATCTATAGAATGGAGGACCTTTGTCCATCTATAGAATGAAGGGGTTGGTTGGATTAGATCAGAGATGCTAATGCAAGGCTCCTTTTGCTACTACTGTCCATCATGTGTCTGAGGCAGACATAACTAATCCGTGACTATACTCTTTGATGATGAGCCCAGGAGCAGCATCTGACTCTATGCTCCCTTAGTGTGCCTGAGGCAGATATCACTAATCGATGACTGCAGTCTTCTACATTGAGCTTAGAAGCAGCATCTGACTCTGTATGCTCCCCTCCCATGCATGAGGCAGACATCAGTAATCCATGACCGCATTCTTTCATACTGAGCCCAGAAGCAGCATCTTTTCTTTTCTTTCCTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCACAATCTTGGCTTGCCCCAACCTCCAATTCCCGGGTTCAAGTGATTCTCGTGCCTCAGCCACCTGAATAGCTGGGATTACAGGCGTGTGCCACCATGCCCAGCTGATTTTTGTATTTTTGGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTTGGCTTCCCAAAGTGTTGGGATTATAGGCATGAGCCACTGCACCAATCCAAAAGCAGCATCTTTGTGCTCCCTTTTCAAGAGGCATCACAGAGAGGCCTGTTTTGGGGTTTGAATGAGAGGCGAAGAATCAGCCATGGAGTGCCTCTTTCTCAGACTCCCTCTTGAGAAGTGGATGCAGGGGTGGAGAGAAAAGAAGACTAGGCATAGTGGCTCATACCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGAAGATTGCTTGAGCTCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCACATCTCTTAAAAAAAAGAAAAAGAAAAAAAATGAGCCAGGTGTAGTGACTCATGCCTGTGGTCCCCACTTCTCCGGAGGCAAAGGTGGGAGGATCTTTTGAGGCTGAGAAATCGAGGCTACAGTGAGCCATGGTGGCACCACTGCACTCCAGCCTGGGAGACAGAGAGACCCTATCTCAGTAAAAAAAAAAAATAAAAATATGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGTAGATCACATGAGGTTAGGAGTTCGAAACCAGTCTGGCCAACATAGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTAGCCAAGGGTGGTGGTGGGCAACTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGAAGAATCGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCTGAGAACATGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAGAAAATAAATAAATAAAATAAAAAAATAAAAAAGGAGGGGGCATATGGGTGAAGTATGGACAAAATAGTGGGGCAGGCACAGATGATCTGGACACAGGAGCCCTTGGAGTTTATTCTTGAATCTAACTGTTCATCTTTATTAAATATTTGTGGCATACACCTCACAACAACATAGCCAACACACCTCCTTTTGGAGCTTTTATCAAAGTTTCCCACTGTTAAGATTTTTTCCCGCTTTGTGATGCGGGTGGGGTGGGTGCTGTAAGCAGGCTTACGGGGTGGCAGTTTCTCACAAAGGCATTAACTGGCCTTGTCCTAGGTCTGCCTTCAGCGAGGATGACGGTGACTGCCAGGGCAAGCCTTC
|
pathogenic
| 325,592 |
The genetic variant at chromosome 22, position 30612957, affecting gene TCN2 (transcobalamin 2): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['TCN2-related_disorder', 'Transcobalamin_II_deficiency']
|
GGCCAGCACCTCTTACCTTGGATGGACCGGCTTTCCCTGGAGCACTTGAACCCCAGCATCTATGTGGGCCTACGCCTCTCCAGTCTGCAGGCTGGGACCAAGGAAGACCTCTACCTGCACAGCCTCAAGCTTGGTTACCAGCAGTGCCTCCTAGGGTATTGCCACACTCTCTTTTTCCATGTCTTGCTCCACATACTAAGAGATGGGAAACTTGGGTACTAGTTTGGGCCTGTCACCACTTTGTGGGCAGACCTTAGGCAAATTTTCTCCATCTATAGAATGGAGGACCTTTGTCCATCTATAGAATGAAGGGGTTGGTTGGATTAGATCAGAGATGCTAATGCAAGGCTCCTTTTGCTACTACTGTCCATCATGTGTCTGAGGCAGACATAACTAATCCGTGACTATACTCTTTGATGATGAGCCCAGGAGCAGCATCTGACTCTATGCTCCCTTAGTGTGCCTGAGGCAGATATCACTAATCGATGACTGCAGTCTTCTACATTGAGCTTAGAAGCAGCATCTGACTCTGTATGCTCCCCTCCCATGCATGAGGCAGACATCAGTAATCCATGACCGCATTCTTTCATACTGAGCCCAGAAGCAGCATCTTTTCTTTTCTTTCCTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCACAATCTTGGCTTGCCCCAACCTCCAATTCCCGGGTTCAAGTGATTCTCGTGCCTCAGCCACCTGAATAGCTGGGATTACAGGCGTGTGCCACCATGCCCAGCTGATTTTTGTATTTTTGGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTTGGCTTCCCAAAGTGTTGGGATTATAGGCATGAGCCACTGCACCAATCCAAAAGCAGCATCTTTGTGCTCCCTTTTCAAGAGGCATCACAGAGAGGCCTGTTTTGGGGTTTGAATGAGAGGCGAAGAATCAGCCATGGAGTGCCTCTTTCTCAGACTCCCTCTTGAGAAGTGGATGCAGGGGTGGAGAGAAAAGAAGACTAGGCATAGTGGCTCATACCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGAAGATTGCTTGAGCTCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCACATCTCTTAAAAAAAAGAAAAAGAAAAAAAATGAGCCAGGTGTAGTGACTCATGCCTGTGGTCCCCACTTCTCCGGAGGCAAAGGTGGGAGGATCTTTTGAGGCTGAGAAATCGAGGCTACAGTGAGCCATGGTGGCACCACTGCACTCCAGCCTGGGAGACAGAGAGACCCTATCTCAGTAAAAAAAAAAAATAAAAATATGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGTAGATCACATGAGGTTAGGAGTTCGAAACCAGTCTGGCCAACATAGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTAGCCAAGGGTGGTGGTGGGCAACTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGAAGAATCGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCTGAGAACATGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAGAAAATAAATAAATAAAATAAAAAAATAAAAAAGGAGGGGGCATATGGGTGAAGTATGGACAAAATAGTGGGGCAGGCACAGATGATCTGGACACAGGAGCCCTTGGAGTTTATTCTTGAATCTAACTGTTCATCTTTATTAAATATTTGTGGCATACACCTCACAACAACATAGCCAACACACCTCCTTTTGGAGCTTTTATCAAAGTTTCCCACTGTTAAGATTTTTTCCCGCTTTGTGATGCGGGTGGGGTGGGTGCTGTAAGCAGGCTTACGGGGTGGCAGTTTCTCACAAAGGCATTAACTGGCCTTGTCCTAGGTCTGCCTTCAGCGAGGATGACGGTGACTGCCAGGGCAAGCCTTCCATGGGCCAGCTGGCCCTCTACCTGCTCGCTCTCAGAGCCAACTGTGAGTTTGTCAGGGGCCACAAGGGGGACAGGCTGGTCTCACAGCTCAAATGGTTCCTGGAGGATGAGAAGAGAGCCATTGGTGAGCAGACACCATCCGCTGGGGGTGGGGAGCAGCTGGGAGGGCTCATCAGATGATATTCTCCAATGAGAATCAGAACTTTGGGTTTTCTCCCCAGGCGTCTTTCCCACCATCCATTCTGCCCATCTCACTGCCTACGTAGAGGCTCGAACCTGTCCCCATAGCCATCCTTGACCCAGCTTTTCCCGCGCTGCACACATACTATTGACAGGTGTGTTTCGTGGTTTTTTGTTTTTTGTTTGTTTGTTTGTTTTGAGTTGGAGGTTTGCTCTTGCTGCCCAGGCTGGAGTACAATGGCGCAATCTCAGCTCACCGCAATCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCAGCTAATTTTGTATTTTTAGTAGACGTGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCTTGCCTTAGCCTCCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTTAGGCCCACTGACAAGCCTTGTATTGGCTAGCCACCAAGATTGACTTGATTATCCACCTTCGGGACAACTGGACAGCCTGCTTATGACTTACGCCATAGTCTGTCTCTACTAGCTCTCCTGCCCTGACTTGACCCAGCATACAACAGCCAGAGCCAGCCTTTTCAATATAAACCTGATCTTGCTGGCACTGCTTAAACCCTGCAGGGGCCTCGCACTGCTCCATGGCCCAGCCTGTCTACCCTTACCTTCTGCCCAGGCTGTGCTCATCCATTCTCTGCCTCCCACACACCTGCCCTCTGTGGGCTCCAGCCATACCATCTCTCAACTCATAAGCCAGTTTTTTCATACAGGCTCCCTCCATCTGGACTGGCTTCCCTGCGTGCAGTTCACTCCTGCTCTACCTTTGGCTCTGCCTCCACCCATCCTCAGCCGTCTCCAGCATTACCTCCTTGGAGAATCCTGCCTTGACTTCCCAGCCACCCAAATATCACTACTTGGTCTGCATTCTCGTTGCAATTGCAGTCGCATGAGCAATTGCTGTGGTTGAGGCCCGAACTGCGCAGTGCCTGTCTGCCATGGGTCTCCTGCTTCCTCTAAGCACAGTGCCTGACACACAGTGAGACCTCAGCACGTATGGGCTGAGGCAATGAAGGAATGAAGGATCCCATGACCCAAAAGAGCGTGTTGGAAAGTGCAGGCCAGGGTCCCAGGTGCTGGCGGGGCTGGCTGCTGGGTGGGGGCAGAGAGGCAACCCCTCTGTTTTTTTCCCTCTCAGGGCATGATCACAAGGGCCACCCCCACACTAGCTACTACCAGTATGGCCTGGGCATTCTGGCCCTGTGTCTCCACCAGAAGCGGGTCCATGACAGCGTGGTGGACAAACTTCTGTATGCTGTGGAACCTTTCCACCAGGGCCACCATTCTGTGGGTGAGTAGGTCAGACCGTGCCAAGGCCAGGCTGGCACTCCCTCAGTCCCCAGGTCTGCACTGATGACCTCCATACCCTGGCCCCCACACTCACCTTTCCTTGGGGCTCCTCCGAATCAAGTCCTTTAGGGACGAATTGGCGAGGGCTCATGGGTGATGCTTCAGCTGTGAGCCAGCTTTGGAGCTGGTAGGTGGATCTCTTGAGGCCAGGAGTTCAAGACAACGTGGTGAAACCCCATCTCTACTAAAAATAAAAAAGTTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGCTGCAGTGAGTGGAGATCGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAGTGAGACTCTGTCTCAAAAAATAAAAAATAAAATAAAACTCCCCTAGTGATTCCAATGTGCAGCTAAGTTTGGAAATAGGTGGTATGGGGTCAAGTCCTCTTGGGCC
|
GGCCAGCACCTCTTACCTTGGATGGACCGGCTTTCCCTGGAGCACTTGAACCCCAGCATCTATGTGGGCCTACGCCTCTCCAGTCTGCAGGCTGGGACCAAGGAAGACCTCTACCTGCACAGCCTCAAGCTTGGTTACCAGCAGTGCCTCCTAGGGTATTGCCACACTCTCTTTTTCCATGTCTTGCTCCACATACTAAGAGATGGGAAACTTGGGTACTAGTTTGGGCCTGTCACCACTTTGTGGGCAGACCTTAGGCAAATTTTCTCCATCTATAGAATGGAGGACCTTTGTCCATCTATAGAATGAAGGGGTTGGTTGGATTAGATCAGAGATGCTAATGCAAGGCTCCTTTTGCTACTACTGTCCATCATGTGTCTGAGGCAGACATAACTAATCCGTGACTATACTCTTTGATGATGAGCCCAGGAGCAGCATCTGACTCTATGCTCCCTTAGTGTGCCTGAGGCAGATATCACTAATCGATGACTGCAGTCTTCTACATTGAGCTTAGAAGCAGCATCTGACTCTGTATGCTCCCCTCCCATGCATGAGGCAGACATCAGTAATCCATGACCGCATTCTTTCATACTGAGCCCAGAAGCAGCATCTTTTCTTTTCTTTCCTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCACAATCTTGGCTTGCCCCAACCTCCAATTCCCGGGTTCAAGTGATTCTCGTGCCTCAGCCACCTGAATAGCTGGGATTACAGGCGTGTGCCACCATGCCCAGCTGATTTTTGTATTTTTGGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTTGGCTTCCCAAAGTGTTGGGATTATAGGCATGAGCCACTGCACCAATCCAAAAGCAGCATCTTTGTGCTCCCTTTTCAAGAGGCATCACAGAGAGGCCTGTTTTGGGGTTTGAATGAGAGGCGAAGAATCAGCCATGGAGTGCCTCTTTCTCAGACTCCCTCTTGAGAAGTGGATGCAGGGGTGGAGAGAAAAGAAGACTAGGCATAGTGGCTCATACCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGAAGATTGCTTGAGCTCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCACATCTCTTAAAAAAAAGAAAAAGAAAAAAAATGAGCCAGGTGTAGTGACTCATGCCTGTGGTCCCCACTTCTCCGGAGGCAAAGGTGGGAGGATCTTTTGAGGCTGAGAAATCGAGGCTACAGTGAGCCATGGTGGCACCACTGCACTCCAGCCTGGGAGACAGAGAGACCCTATCTCAGTAAAAAAAAAAAATAAAAATATGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGTAGATCACATGAGGTTAGGAGTTCGAAACCAGTCTGGCCAACATAGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTAGCCAAGGGTGGTGGTGGGCAACTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGAAGAATCGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCTGAGAACATGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAGAAAATAAATAAATAAAATAAAAAAATAAAAAAGGAGGGGGCATATGGGTGAAGTATGGACAAAATAGTGGGGCAGGCACAGATGATCTGGACACAGGAGCCCTTGGAGTTTATTCTTGAATCTAACTGTTCATCTTTATTAAATATTTGTGGCATACACCTCACAACAACATAGCCAACACACCTCCTTTTGGAGCTTTTATCAAAGTTTCCCACTGTTAAGATTTTTTCCCGCTTTGTGATGCGGGTGGGGTGGGTGCTGTAAGCAGGCTTACGGGGTGGCAGTTTCTCACAAAGGCATTAACTGGCCTTGTCCTAGGTCTGCCTTCAGCGAGGATGACGGTGACTGCCAGGGCAAGCCTTCCATGGGCCAGCTGGCCCTCTACCTGCTCGCTCTCAGAGCCACTGTGAGTTTGTCAGGGGCCACAAGGGGGACAGGCTGGTCTCACAGCTCAAATGGTTCCTGGAGGATGAGAAGAGAGCCATTGGTGAGCAGACACCATCCGCTGGGGGTGGGGAGCAGCTGGGAGGGCTCATCAGATGATATTCTCCAATGAGAATCAGAACTTTGGGTTTTCTCCCCAGGCGTCTTTCCCACCATCCATTCTGCCCATCTCACTGCCTACGTAGAGGCTCGAACCTGTCCCCATAGCCATCCTTGACCCAGCTTTTCCCGCGCTGCACACATACTATTGACAGGTGTGTTTCGTGGTTTTTTGTTTTTTGTTTGTTTGTTTGTTTTGAGTTGGAGGTTTGCTCTTGCTGCCCAGGCTGGAGTACAATGGCGCAATCTCAGCTCACCGCAATCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCAGCTAATTTTGTATTTTTAGTAGACGTGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCTTGCCTTAGCCTCCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTTAGGCCCACTGACAAGCCTTGTATTGGCTAGCCACCAAGATTGACTTGATTATCCACCTTCGGGACAACTGGACAGCCTGCTTATGACTTACGCCATAGTCTGTCTCTACTAGCTCTCCTGCCCTGACTTGACCCAGCATACAACAGCCAGAGCCAGCCTTTTCAATATAAACCTGATCTTGCTGGCACTGCTTAAACCCTGCAGGGGCCTCGCACTGCTCCATGGCCCAGCCTGTCTACCCTTACCTTCTGCCCAGGCTGTGCTCATCCATTCTCTGCCTCCCACACACCTGCCCTCTGTGGGCTCCAGCCATACCATCTCTCAACTCATAAGCCAGTTTTTTCATACAGGCTCCCTCCATCTGGACTGGCTTCCCTGCGTGCAGTTCACTCCTGCTCTACCTTTGGCTCTGCCTCCACCCATCCTCAGCCGTCTCCAGCATTACCTCCTTGGAGAATCCTGCCTTGACTTCCCAGCCACCCAAATATCACTACTTGGTCTGCATTCTCGTTGCAATTGCAGTCGCATGAGCAATTGCTGTGGTTGAGGCCCGAACTGCGCAGTGCCTGTCTGCCATGGGTCTCCTGCTTCCTCTAAGCACAGTGCCTGACACACAGTGAGACCTCAGCACGTATGGGCTGAGGCAATGAAGGAATGAAGGATCCCATGACCCAAAAGAGCGTGTTGGAAAGTGCAGGCCAGGGTCCCAGGTGCTGGCGGGGCTGGCTGCTGGGTGGGGGCAGAGAGGCAACCCCTCTGTTTTTTTCCCTCTCAGGGCATGATCACAAGGGCCACCCCCACACTAGCTACTACCAGTATGGCCTGGGCATTCTGGCCCTGTGTCTCCACCAGAAGCGGGTCCATGACAGCGTGGTGGACAAACTTCTGTATGCTGTGGAACCTTTCCACCAGGGCCACCATTCTGTGGGTGAGTAGGTCAGACCGTGCCAAGGCCAGGCTGGCACTCCCTCAGTCCCCAGGTCTGCACTGATGACCTCCATACCCTGGCCCCCACACTCACCTTTCCTTGGGGCTCCTCCGAATCAAGTCCTTTAGGGACGAATTGGCGAGGGCTCATGGGTGATGCTTCAGCTGTGAGCCAGCTTTGGAGCTGGTAGGTGGATCTCTTGAGGCCAGGAGTTCAAGACAACGTGGTGAAACCCCATCTCTACTAAAAATAAAAAAGTTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGCTGCAGTGAGTGGAGATCGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAGTGAGACTCTGTCTCAAAAAATAAAAAATAAAATAAAACTCCCCTAGTGATTCCAATGTGCAGCTAAGTTTGGAAATAGGTGGTATGGGGTCAAGTCCTCTTGGGCCN
|
pathogenic
| 325,599 |
Evaluate the clinical significance of the mutation at chromosome 22, position 30612965 in gene TCN2 (transcobalamin 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Transcobalamin_II_deficiency']
|
CCTCTTACCTTGGATGGACCGGCTTTCCCTGGAGCACTTGAACCCCAGCATCTATGTGGGCCTACGCCTCTCCAGTCTGCAGGCTGGGACCAAGGAAGACCTCTACCTGCACAGCCTCAAGCTTGGTTACCAGCAGTGCCTCCTAGGGTATTGCCACACTCTCTTTTTCCATGTCTTGCTCCACATACTAAGAGATGGGAAACTTGGGTACTAGTTTGGGCCTGTCACCACTTTGTGGGCAGACCTTAGGCAAATTTTCTCCATCTATAGAATGGAGGACCTTTGTCCATCTATAGAATGAAGGGGTTGGTTGGATTAGATCAGAGATGCTAATGCAAGGCTCCTTTTGCTACTACTGTCCATCATGTGTCTGAGGCAGACATAACTAATCCGTGACTATACTCTTTGATGATGAGCCCAGGAGCAGCATCTGACTCTATGCTCCCTTAGTGTGCCTGAGGCAGATATCACTAATCGATGACTGCAGTCTTCTACATTGAGCTTAGAAGCAGCATCTGACTCTGTATGCTCCCCTCCCATGCATGAGGCAGACATCAGTAATCCATGACCGCATTCTTTCATACTGAGCCCAGAAGCAGCATCTTTTCTTTTCTTTCCTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCACAATCTTGGCTTGCCCCAACCTCCAATTCCCGGGTTCAAGTGATTCTCGTGCCTCAGCCACCTGAATAGCTGGGATTACAGGCGTGTGCCACCATGCCCAGCTGATTTTTGTATTTTTGGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTTGGCTTCCCAAAGTGTTGGGATTATAGGCATGAGCCACTGCACCAATCCAAAAGCAGCATCTTTGTGCTCCCTTTTCAAGAGGCATCACAGAGAGGCCTGTTTTGGGGTTTGAATGAGAGGCGAAGAATCAGCCATGGAGTGCCTCTTTCTCAGACTCCCTCTTGAGAAGTGGATGCAGGGGTGGAGAGAAAAGAAGACTAGGCATAGTGGCTCATACCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGAAGATTGCTTGAGCTCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCACATCTCTTAAAAAAAAGAAAAAGAAAAAAAATGAGCCAGGTGTAGTGACTCATGCCTGTGGTCCCCACTTCTCCGGAGGCAAAGGTGGGAGGATCTTTTGAGGCTGAGAAATCGAGGCTACAGTGAGCCATGGTGGCACCACTGCACTCCAGCCTGGGAGACAGAGAGACCCTATCTCAGTAAAAAAAAAAAATAAAAATATGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGTAGATCACATGAGGTTAGGAGTTCGAAACCAGTCTGGCCAACATAGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTAGCCAAGGGTGGTGGTGGGCAACTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGAAGAATCGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCTGAGAACATGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAGAAAATAAATAAATAAAATAAAAAAATAAAAAAGGAGGGGGCATATGGGTGAAGTATGGACAAAATAGTGGGGCAGGCACAGATGATCTGGACACAGGAGCCCTTGGAGTTTATTCTTGAATCTAACTGTTCATCTTTATTAAATATTTGTGGCATACACCTCACAACAACATAGCCAACACACCTCCTTTTGGAGCTTTTATCAAAGTTTCCCACTGTTAAGATTTTTTCCCGCTTTGTGATGCGGGTGGGGTGGGTGCTGTAAGCAGGCTTACGGGGTGGCAGTTTCTCACAAAGGCATTAACTGGCCTTGTCCTAGGTCTGCCTTCAGCGAGGATGACGGTGACTGCCAGGGCAAGCCTTCCATGGGCCAGCTGGCCCTCTACCTGCTCGCTCTCAGAGCCAACTGTGAGTTTGTCAGGGGCCACAAGGGGGACAGGCTGGTCTCACAGCTCAAATGGTTCCTGGAGGATGAGAAGAGAGCCATTGGTGAGCAGACACCATCCGCTGGGGGTGGGGAGCAGCTGGGAGGGCTCATCAGATGATATTCTCCAATGAGAATCAGAACTTTGGGTTTTCTCCCCAGGCGTCTTTCCCACCATCCATTCTGCCCATCTCACTGCCTACGTAGAGGCTCGAACCTGTCCCCATAGCCATCCTTGACCCAGCTTTTCCCGCGCTGCACACATACTATTGACAGGTGTGTTTCGTGGTTTTTTGTTTTTTGTTTGTTTGTTTGTTTTGAGTTGGAGGTTTGCTCTTGCTGCCCAGGCTGGAGTACAATGGCGCAATCTCAGCTCACCGCAATCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCAGCTAATTTTGTATTTTTAGTAGACGTGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCTTGCCTTAGCCTCCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTTAGGCCCACTGACAAGCCTTGTATTGGCTAGCCACCAAGATTGACTTGATTATCCACCTTCGGGACAACTGGACAGCCTGCTTATGACTTACGCCATAGTCTGTCTCTACTAGCTCTCCTGCCCTGACTTGACCCAGCATACAACAGCCAGAGCCAGCCTTTTCAATATAAACCTGATCTTGCTGGCACTGCTTAAACCCTGCAGGGGCCTCGCACTGCTCCATGGCCCAGCCTGTCTACCCTTACCTTCTGCCCAGGCTGTGCTCATCCATTCTCTGCCTCCCACACACCTGCCCTCTGTGGGCTCCAGCCATACCATCTCTCAACTCATAAGCCAGTTTTTTCATACAGGCTCCCTCCATCTGGACTGGCTTCCCTGCGTGCAGTTCACTCCTGCTCTACCTTTGGCTCTGCCTCCACCCATCCTCAGCCGTCTCCAGCATTACCTCCTTGGAGAATCCTGCCTTGACTTCCCAGCCACCCAAATATCACTACTTGGTCTGCATTCTCGTTGCAATTGCAGTCGCATGAGCAATTGCTGTGGTTGAGGCCCGAACTGCGCAGTGCCTGTCTGCCATGGGTCTCCTGCTTCCTCTAAGCACAGTGCCTGACACACAGTGAGACCTCAGCACGTATGGGCTGAGGCAATGAAGGAATGAAGGATCCCATGACCCAAAAGAGCGTGTTGGAAAGTGCAGGCCAGGGTCCCAGGTGCTGGCGGGGCTGGCTGCTGGGTGGGGGCAGAGAGGCAACCCCTCTGTTTTTTTCCCTCTCAGGGCATGATCACAAGGGCCACCCCCACACTAGCTACTACCAGTATGGCCTGGGCATTCTGGCCCTGTGTCTCCACCAGAAGCGGGTCCATGACAGCGTGGTGGACAAACTTCTGTATGCTGTGGAACCTTTCCACCAGGGCCACCATTCTGTGGGTGAGTAGGTCAGACCGTGCCAAGGCCAGGCTGGCACTCCCTCAGTCCCCAGGTCTGCACTGATGACCTCCATACCCTGGCCCCCACACTCACCTTTCCTTGGGGCTCCTCCGAATCAAGTCCTTTAGGGACGAATTGGCGAGGGCTCATGGGTGATGCTTCAGCTGTGAGCCAGCTTTGGAGCTGGTAGGTGGATCTCTTGAGGCCAGGAGTTCAAGACAACGTGGTGAAACCCCATCTCTACTAAAAATAAAAAAGTTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGCTGCAGTGAGTGGAGATCGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAGTGAGACTCTGTCTCAAAAAATAAAAAATAAAATAAAACTCCCCTAGTGATTCCAATGTGCAGCTAAGTTTGGAAATAGGTGGTATGGGGTCAAGTCCTCTTGGGCCTCCCTCCT
|
CCTCTTACCTTGGATGGACCGGCTTTCCCTGGAGCACTTGAACCCCAGCATCTATGTGGGCCTACGCCTCTCCAGTCTGCAGGCTGGGACCAAGGAAGACCTCTACCTGCACAGCCTCAAGCTTGGTTACCAGCAGTGCCTCCTAGGGTATTGCCACACTCTCTTTTTCCATGTCTTGCTCCACATACTAAGAGATGGGAAACTTGGGTACTAGTTTGGGCCTGTCACCACTTTGTGGGCAGACCTTAGGCAAATTTTCTCCATCTATAGAATGGAGGACCTTTGTCCATCTATAGAATGAAGGGGTTGGTTGGATTAGATCAGAGATGCTAATGCAAGGCTCCTTTTGCTACTACTGTCCATCATGTGTCTGAGGCAGACATAACTAATCCGTGACTATACTCTTTGATGATGAGCCCAGGAGCAGCATCTGACTCTATGCTCCCTTAGTGTGCCTGAGGCAGATATCACTAATCGATGACTGCAGTCTTCTACATTGAGCTTAGAAGCAGCATCTGACTCTGTATGCTCCCCTCCCATGCATGAGGCAGACATCAGTAATCCATGACCGCATTCTTTCATACTGAGCCCAGAAGCAGCATCTTTTCTTTTCTTTCCTCTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCACAATCTTGGCTTGCCCCAACCTCCAATTCCCGGGTTCAAGTGATTCTCGTGCCTCAGCCACCTGAATAGCTGGGATTACAGGCGTGTGCCACCATGCCCAGCTGATTTTTGTATTTTTGGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTTGGCTTCCCAAAGTGTTGGGATTATAGGCATGAGCCACTGCACCAATCCAAAAGCAGCATCTTTGTGCTCCCTTTTCAAGAGGCATCACAGAGAGGCCTGTTTTGGGGTTTGAATGAGAGGCGAAGAATCAGCCATGGAGTGCCTCTTTCTCAGACTCCCTCTTGAGAAGTGGATGCAGGGGTGGAGAGAAAAGAAGACTAGGCATAGTGGCTCATACCTGTAATCCCAACATTTTGGGAGGCTGAGGCAGGAAGATTGCTTGAGCTCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCACATCTCTTAAAAAAAAGAAAAAGAAAAAAAATGAGCCAGGTGTAGTGACTCATGCCTGTGGTCCCCACTTCTCCGGAGGCAAAGGTGGGAGGATCTTTTGAGGCTGAGAAATCGAGGCTACAGTGAGCCATGGTGGCACCACTGCACTCCAGCCTGGGAGACAGAGAGACCCTATCTCAGTAAAAAAAAAAAATAAAAATATGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGTAGATCACATGAGGTTAGGAGTTCGAAACCAGTCTGGCCAACATAGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTAGCCAAGGGTGGTGGTGGGCAACTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGAAGAATCGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCTGAGAACATGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAGAAAATAAATAAATAAAATAAAAAAATAAAAAAGGAGGGGGCATATGGGTGAAGTATGGACAAAATAGTGGGGCAGGCACAGATGATCTGGACACAGGAGCCCTTGGAGTTTATTCTTGAATCTAACTGTTCATCTTTATTAAATATTTGTGGCATACACCTCACAACAACATAGCCAACACACCTCCTTTTGGAGCTTTTATCAAAGTTTCCCACTGTTAAGATTTTTTCCCGCTTTGTGATGCGGGTGGGGTGGGTGCTGTAAGCAGGCTTACGGGGTGGCAGTTTCTCACAAAGGCATTAACTGGCCTTGTCCTAGGTCTGCCTTCAGCGAGGATGACGGTGACTGCCAGGGCAAGCCTTCCATGGGCCAGCTGGCCCTCTACCTGCTCGCTCTCAGAGCCAACTGTGAACGTTTGTCAGGGGCCACAAGGGGGACAGGCTGGTCTCACAGCTCAAATGGTTCCTGGAGGATGAGAAGAGAGCCATTGGTGAGCAGACACCATCCGCTGGGGGTGGGGAGCAGCTGGGAGGGCTCATCAGATGATATTCTCCAATGAGAATCAGAACTTTGGGTTTTCTCCCCAGGCGTCTTTCCCACCATCCATTCTGCCCATCTCACTGCCTACGTAGAGGCTCGAACCTGTCCCCATAGCCATCCTTGACCCAGCTTTTCCCGCGCTGCACACATACTATTGACAGGTGTGTTTCGTGGTTTTTTGTTTTTTGTTTGTTTGTTTGTTTTGAGTTGGAGGTTTGCTCTTGCTGCCCAGGCTGGAGTACAATGGCGCAATCTCAGCTCACCGCAATCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCAGCTAATTTTGTATTTTTAGTAGACGTGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCTTGCCTTAGCCTCCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTTAGGCCCACTGACAAGCCTTGTATTGGCTAGCCACCAAGATTGACTTGATTATCCACCTTCGGGACAACTGGACAGCCTGCTTATGACTTACGCCATAGTCTGTCTCTACTAGCTCTCCTGCCCTGACTTGACCCAGCATACAACAGCCAGAGCCAGCCTTTTCAATATAAACCTGATCTTGCTGGCACTGCTTAAACCCTGCAGGGGCCTCGCACTGCTCCATGGCCCAGCCTGTCTACCCTTACCTTCTGCCCAGGCTGTGCTCATCCATTCTCTGCCTCCCACACACCTGCCCTCTGTGGGCTCCAGCCATACCATCTCTCAACTCATAAGCCAGTTTTTTCATACAGGCTCCCTCCATCTGGACTGGCTTCCCTGCGTGCAGTTCACTCCTGCTCTACCTTTGGCTCTGCCTCCACCCATCCTCAGCCGTCTCCAGCATTACCTCCTTGGAGAATCCTGCCTTGACTTCCCAGCCACCCAAATATCACTACTTGGTCTGCATTCTCGTTGCAATTGCAGTCGCATGAGCAATTGCTGTGGTTGAGGCCCGAACTGCGCAGTGCCTGTCTGCCATGGGTCTCCTGCTTCCTCTAAGCACAGTGCCTGACACACAGTGAGACCTCAGCACGTATGGGCTGAGGCAATGAAGGAATGAAGGATCCCATGACCCAAAAGAGCGTGTTGGAAAGTGCAGGCCAGGGTCCCAGGTGCTGGCGGGGCTGGCTGCTGGGTGGGGGCAGAGAGGCAACCCCTCTGTTTTTTTCCCTCTCAGGGCATGATCACAAGGGCCACCCCCACACTAGCTACTACCAGTATGGCCTGGGCATTCTGGCCCTGTGTCTCCACCAGAAGCGGGTCCATGACAGCGTGGTGGACAAACTTCTGTATGCTGTGGAACCTTTCCACCAGGGCCACCATTCTGTGGGTGAGTAGGTCAGACCGTGCCAAGGCCAGGCTGGCACTCCCTCAGTCCCCAGGTCTGCACTGATGACCTCCATACCCTGGCCCCCACACTCACCTTTCCTTGGGGCTCCTCCGAATCAAGTCCTTTAGGGACGAATTGGCGAGGGCTCATGGGTGATGCTTCAGCTGTGAGCCAGCTTTGGAGCTGGTAGGTGGATCTCTTGAGGCCAGGAGTTCAAGACAACGTGGTGAAACCCCATCTCTACTAAAAATAAAAAAGTTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGCTGCAGTGAGTGGAGATCGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAGTGAGACTCTGTCTCAAAAAATAAAAAATAAAATAAAACTCCCCTAGTGATTCCAATGTGCAGCTAAGTTTGGAAATAGGTGGTATGGGGTCAAGTCCTCTTGGGCCTCCCTC
|
pathogenic
| 325,600 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 30614346, gene TCN2 (transcobalamin 2). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Transcobalamin_II_deficiency']
|
CAGCACTTTGGGAGGCCAAGGTAGGTAGATCACATGAGGTTAGGAGTTCGAAACCAGTCTGGCCAACATAGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTAGCCAAGGGTGGTGGTGGGCAACTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGAAGAATCGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCTGAGAACATGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAGAAAATAAATAAATAAAATAAAAAAATAAAAAAGGAGGGGGCATATGGGTGAAGTATGGACAAAATAGTGGGGCAGGCACAGATGATCTGGACACAGGAGCCCTTGGAGTTTATTCTTGAATCTAACTGTTCATCTTTATTAAATATTTGTGGCATACACCTCACAACAACATAGCCAACACACCTCCTTTTGGAGCTTTTATCAAAGTTTCCCACTGTTAAGATTTTTTCCCGCTTTGTGATGCGGGTGGGGTGGGTGCTGTAAGCAGGCTTACGGGGTGGCAGTTTCTCACAAAGGCATTAACTGGCCTTGTCCTAGGTCTGCCTTCAGCGAGGATGACGGTGACTGCCAGGGCAAGCCTTCCATGGGCCAGCTGGCCCTCTACCTGCTCGCTCTCAGAGCCAACTGTGAGTTTGTCAGGGGCCACAAGGGGGACAGGCTGGTCTCACAGCTCAAATGGTTCCTGGAGGATGAGAAGAGAGCCATTGGTGAGCAGACACCATCCGCTGGGGGTGGGGAGCAGCTGGGAGGGCTCATCAGATGATATTCTCCAATGAGAATCAGAACTTTGGGTTTTCTCCCCAGGCGTCTTTCCCACCATCCATTCTGCCCATCTCACTGCCTACGTAGAGGCTCGAACCTGTCCCCATAGCCATCCTTGACCCAGCTTTTCCCGCGCTGCACACATACTATTGACAGGTGTGTTTCGTGGTTTTTTGTTTTTTGTTTGTTTGTTTGTTTTGAGTTGGAGGTTTGCTCTTGCTGCCCAGGCTGGAGTACAATGGCGCAATCTCAGCTCACCGCAATCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCAGCTAATTTTGTATTTTTAGTAGACGTGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCTTGCCTTAGCCTCCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTTAGGCCCACTGACAAGCCTTGTATTGGCTAGCCACCAAGATTGACTTGATTATCCACCTTCGGGACAACTGGACAGCCTGCTTATGACTTACGCCATAGTCTGTCTCTACTAGCTCTCCTGCCCTGACTTGACCCAGCATACAACAGCCAGAGCCAGCCTTTTCAATATAAACCTGATCTTGCTGGCACTGCTTAAACCCTGCAGGGGCCTCGCACTGCTCCATGGCCCAGCCTGTCTACCCTTACCTTCTGCCCAGGCTGTGCTCATCCATTCTCTGCCTCCCACACACCTGCCCTCTGTGGGCTCCAGCCATACCATCTCTCAACTCATAAGCCAGTTTTTTCATACAGGCTCCCTCCATCTGGACTGGCTTCCCTGCGTGCAGTTCACTCCTGCTCTACCTTTGGCTCTGCCTCCACCCATCCTCAGCCGTCTCCAGCATTACCTCCTTGGAGAATCCTGCCTTGACTTCCCAGCCACCCAAATATCACTACTTGGTCTGCATTCTCGTTGCAATTGCAGTCGCATGAGCAATTGCTGTGGTTGAGGCCCGAACTGCGCAGTGCCTGTCTGCCATGGGTCTCCTGCTTCCTCTAAGCACAGTGCCTGACACACAGTGAGACCTCAGCACGTATGGGCTGAGGCAATGAAGGAATGAAGGATCCCATGACCCAAAAGAGCGTGTTGGAAAGTGCAGGCCAGGGTCCCAGGTGCTGGCGGGGCTGGCTGCTGGGTGGGGGCAGAGAGGCAACCCCTCTGTTTTTTTCCCTCTCAGGGCATGATCACAAGGGCCACCCCCACACTAGCTACTACCAGTATGGCCTGGGCATTCTGGCCCTGTGTCTCCACCAGAAGCGGGTCCATGACAGCGTGGTGGACAAACTTCTGTATGCTGTGGAACCTTTCCACCAGGGCCACCATTCTGTGGGTGAGTAGGTCAGACCGTGCCAAGGCCAGGCTGGCACTCCCTCAGTCCCCAGGTCTGCACTGATGACCTCCATACCCTGGCCCCCACACTCACCTTTCCTTGGGGCTCCTCCGAATCAAGTCCTTTAGGGACGAATTGGCGAGGGCTCATGGGTGATGCTTCAGCTGTGAGCCAGCTTTGGAGCTGGTAGGTGGATCTCTTGAGGCCAGGAGTTCAAGACAACGTGGTGAAACCCCATCTCTACTAAAAATAAAAAAGTTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGCTGCAGTGAGTGGAGATCGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAGTGAGACTCTGTCTCAAAAAATAAAAAATAAAATAAAACTCCCCTAGTGATTCCAATGTGCAGCTAAGTTTGGAAATAGGTGGTATGGGGTCAAGTCCTCTTGGGCCTCCCTCCTCCAGTCCTTCTCCCTAACCTCTAGCCCTCAAGTTGCAGAGTGATCAGCCAAACCAGTTTGCCCAGAAATGAGCAGTTTCCTGGGACACAGGATTTTCAGAGTCCAGACAAGGAAAGTCTTGGGCAGACCAGGTTGAGTTGGTGCCCTTAGCTGATCTGACCATGTTGCCCTTCTTCTCCAAGCCCTCCTGTGGTTGTCCATAGCTACAAGGGCCTGACCCTCAAGCCCCTGCCTGTCCTGGCCCCTTTGGCTCTCCAGCTCATTGCATGTTCTGTCCCCCACTTCAAGACACAGCAGCCATGGCAGGCTTGGCATTCACCTGTCTGAAGCGCTCAAACTTCAACCCTGGTCGGAGACAACGGATCACCATGGCCATCAGAACAGTGCGAGAGGAGATCTTGAAGGCCCAGACCCCCGAGGGCCACTTTGGGAATGTCTACAGCACCCCATTGGCATTACAGGTGGGAAAGAGACCCTGGAGCCATGGCCACCCTGGGGAACAGTCAGGGGTGGAGTGGTCAGGTGCTGGAACACCTAGCCCCTCCCTGCCGGCTGACTTCCTCTCTCTCTTCCTCACTCTATCACCAGTTCCTCATGACTTCCCCCATGCGTGGGGCAGAACTGGGAACAGCATGTCTCAAGGCGAGGGTTGCTTTGCTGGCCAGTCTGCAGGATGGAGCCTTCCAGAATGCTCTCATGATTTCCCAGCTGCTGCCCGTTCTGAACCACAAGACCTACATTGATCTGATCTTCCCAGACTGTCTGGCACCACGAGGTAGCCCAACTTTTTGTGGAAGCACAGCCCTTTACAATCTGCTGCGCACCCATTGACGTCCCAGTGAGGGGAGGTTGCTTCATCCTGATTTGCTGAGTCAGCACAAGATTGTGGGTGTGCATGGGACACAGCAGCCAAAATGTGGTCATAGCTTCTAGAAGCTCACAGTGTGGGGAGGAAGACAGTAAATGGAGATCCCTGGGCATATCGCTTGTGTGATACCCAGTACAGAAATGTTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGAGGAGAGACACATTTTGGTTAACTCTAATACAACATGATAAGCCCCAGTAGCAGCATGATCCAGGCTTTCTCTGAGAGAGGGTCTGAGGACGTGACTGGGATTTGCCAATTAAGAATGGAGAAAGAGGCCAGGTGCAGTGACTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGCTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGCGAAACTCCATCTATTAAAAATACAAAAAAGTAGCTGGGTGTGGTGGCGAGTGCCTGTAACCCCAGCTAAGCTACTCAGGAGGCTGAGGC
|
CAGCACTTTGGGAGGCCAAGGTAGGTAGATCACATGAGGTTAGGAGTTCGAAACCAGTCTGGCCAACATAGTGAAACCCTGTCTCTACTGAAAATACAAAAAATTAGCCAAGGGTGGTGGTGGGCAACTGTAATCCCAGCTACTTGGGAGGCCGAGGCAGAAGAATCGCTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCTGAGAACATGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAGAAAATAAATAAATAAAATAAAAAAATAAAAAAGGAGGGGGCATATGGGTGAAGTATGGACAAAATAGTGGGGCAGGCACAGATGATCTGGACACAGGAGCCCTTGGAGTTTATTCTTGAATCTAACTGTTCATCTTTATTAAATATTTGTGGCATACACCTCACAACAACATAGCCAACACACCTCCTTTTGGAGCTTTTATCAAAGTTTCCCACTGTTAAGATTTTTTCCCGCTTTGTGATGCGGGTGGGGTGGGTGCTGTAAGCAGGCTTACGGGGTGGCAGTTTCTCACAAAGGCATTAACTGGCCTTGTCCTAGGTCTGCCTTCAGCGAGGATGACGGTGACTGCCAGGGCAAGCCTTCCATGGGCCAGCTGGCCCTCTACCTGCTCGCTCTCAGAGCCAACTGTGAGTTTGTCAGGGGCCACAAGGGGGACAGGCTGGTCTCACAGCTCAAATGGTTCCTGGAGGATGAGAAGAGAGCCATTGGTGAGCAGACACCATCCGCTGGGGGTGGGGAGCAGCTGGGAGGGCTCATCAGATGATATTCTCCAATGAGAATCAGAACTTTGGGTTTTCTCCCCAGGCGTCTTTCCCACCATCCATTCTGCCCATCTCACTGCCTACGTAGAGGCTCGAACCTGTCCCCATAGCCATCCTTGACCCAGCTTTTCCCGCGCTGCACACATACTATTGACAGGTGTGTTTCGTGGTTTTTTGTTTTTTGTTTGTTTGTTTGTTTTGAGTTGGAGGTTTGCTCTTGCTGCCCAGGCTGGAGTACAATGGCGCAATCTCAGCTCACCGCAATCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCAGCTAATTTTGTATTTTTAGTAGACGTGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCTTGCCTTAGCCTCCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTTAGGCCCACTGACAAGCCTTGTATTGGCTAGCCACCAAGATTGACTTGATTATCCACCTTCGGGACAACTGGACAGCCTGCTTATGACTTACGCCATAGTCTGTCTCTACTAGCTCTCCTGCCCTGACTTGACCCAGCATACAACAGCCAGAGCCAGCCTTTTCAATATAAACCTGATCTTGCTGGCACTGCTTAAACCCTGCAGGGGCCTCGCACTGCTCCATGGCCCAGCCTGTCTACCCTTACCTTCTGCCCAGGCTGTGCTCATCCATTCTCTGCCTCCCACACACCTGCCCTCTGTGGGCTCCAGCCATACCATCTCTCAACTCATAAGCCAGTTTTTTCATACAGGCTCCCTCCATCTGGACTGGCTTCCCTGCGTGCAGTTCACTCCTGCTCTACCTTTGGCTCTGCCTCCACCCATCCTCAGCCGTCTCCAGCATTACCTCCTTGGAGAATCCTGCCTTGACTTCCCAGCCACCCAAATATCACTACTTGGTCTGCATTCTCGTTGCAATTGCAGTCGCATGAGCAATTGCTGTGGTTGAGGCCCGAACTGCGCAGTGCCTGTCTGCCATGGGTCTCCTGCTTCCTCTAAGCACAGTGCCTGACACACAGTGAGACCTCAGCACGTATGGGCTGAGGCAATGAAGGAATGAAGGATCCCATGACCCAAAAGAGCGTGTTGGAAAGTGCAGGCCAGGGTCCCAGGTGCTGGCGGGGCTGGCTGCTGGGTGGGGGCAGAGAGGCAACCCCTCTGTTTTTTTCCCTCTCGGCATGATCACAAGGGCCACCCCCACACTAGCTACTACCAGTATGGCCTGGGCATTCTGGCCCTGTGTCTCCACCAGAAGCGGGTCCATGACAGCGTGGTGGACAAACTTCTGTATGCTGTGGAACCTTTCCACCAGGGCCACCATTCTGTGGGTGAGTAGGTCAGACCGTGCCAAGGCCAGGCTGGCACTCCCTCAGTCCCCAGGTCTGCACTGATGACCTCCATACCCTGGCCCCCACACTCACCTTTCCTTGGGGCTCCTCCGAATCAAGTCCTTTAGGGACGAATTGGCGAGGGCTCATGGGTGATGCTTCAGCTGTGAGCCAGCTTTGGAGCTGGTAGGTGGATCTCTTGAGGCCAGGAGTTCAAGACAACGTGGTGAAACCCCATCTCTACTAAAAATAAAAAAGTTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGCTGCAGTGAGTGGAGATCGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAGTGAGACTCTGTCTCAAAAAATAAAAAATAAAATAAAACTCCCCTAGTGATTCCAATGTGCAGCTAAGTTTGGAAATAGGTGGTATGGGGTCAAGTCCTCTTGGGCCTCCCTCCTCCAGTCCTTCTCCCTAACCTCTAGCCCTCAAGTTGCAGAGTGATCAGCCAAACCAGTTTGCCCAGAAATGAGCAGTTTCCTGGGACACAGGATTTTCAGAGTCCAGACAAGGAAAGTCTTGGGCAGACCAGGTTGAGTTGGTGCCCTTAGCTGATCTGACCATGTTGCCCTTCTTCTCCAAGCCCTCCTGTGGTTGTCCATAGCTACAAGGGCCTGACCCTCAAGCCCCTGCCTGTCCTGGCCCCTTTGGCTCTCCAGCTCATTGCATGTTCTGTCCCCCACTTCAAGACACAGCAGCCATGGCAGGCTTGGCATTCACCTGTCTGAAGCGCTCAAACTTCAACCCTGGTCGGAGACAACGGATCACCATGGCCATCAGAACAGTGCGAGAGGAGATCTTGAAGGCCCAGACCCCCGAGGGCCACTTTGGGAATGTCTACAGCACCCCATTGGCATTACAGGTGGGAAAGAGACCCTGGAGCCATGGCCACCCTGGGGAACAGTCAGGGGTGGAGTGGTCAGGTGCTGGAACACCTAGCCCCTCCCTGCCGGCTGACTTCCTCTCTCTCTTCCTCACTCTATCACCAGTTCCTCATGACTTCCCCCATGCGTGGGGCAGAACTGGGAACAGCATGTCTCAAGGCGAGGGTTGCTTTGCTGGCCAGTCTGCAGGATGGAGCCTTCCAGAATGCTCTCATGATTTCCCAGCTGCTGCCCGTTCTGAACCACAAGACCTACATTGATCTGATCTTCCCAGACTGTCTGGCACCACGAGGTAGCCCAACTTTTTGTGGAAGCACAGCCCTTTACAATCTGCTGCGCACCCATTGACGTCCCAGTGAGGGGAGGTTGCTTCATCCTGATTTGCTGAGTCAGCACAAGATTGTGGGTGTGCATGGGACACAGCAGCCAAAATGTGGTCATAGCTTCTAGAAGCTCACAGTGTGGGGAGGAAGACAGTAAATGGAGATCCCTGGGCATATCGCTTGTGTGATACCCAGTACAGAAATGTTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGAGGAGAGACACATTTTGGTTAACTCTAATACAACATGATAAGCCCCAGTAGCAGCATGATCCAGGCTTTCTCTGAGAGAGGGTCTGAGGACGTGACTGGGATTTGCCAATTAAGAATGGAGAAAGAGGCCAGGTGCAGTGACTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGCTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGCGAAACTCCATCTATTAAAAATACAAAAAAGTAGCTGGGTGTGGTGGCGAGTGCCTGTAACCCCAGCTAAGCTACTCAGGAGGCTGAGGCNN
|
pathogenic
| 325,606 |
Is the genetic change at chromosome 22, position 30615517, within gene TCN2 (transcobalamin 2) benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
GGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCTTGCCTTAGCCTCCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTTAGGCCCACTGACAAGCCTTGTATTGGCTAGCCACCAAGATTGACTTGATTATCCACCTTCGGGACAACTGGACAGCCTGCTTATGACTTACGCCATAGTCTGTCTCTACTAGCTCTCCTGCCCTGACTTGACCCAGCATACAACAGCCAGAGCCAGCCTTTTCAATATAAACCTGATCTTGCTGGCACTGCTTAAACCCTGCAGGGGCCTCGCACTGCTCCATGGCCCAGCCTGTCTACCCTTACCTTCTGCCCAGGCTGTGCTCATCCATTCTCTGCCTCCCACACACCTGCCCTCTGTGGGCTCCAGCCATACCATCTCTCAACTCATAAGCCAGTTTTTTCATACAGGCTCCCTCCATCTGGACTGGCTTCCCTGCGTGCAGTTCACTCCTGCTCTACCTTTGGCTCTGCCTCCACCCATCCTCAGCCGTCTCCAGCATTACCTCCTTGGAGAATCCTGCCTTGACTTCCCAGCCACCCAAATATCACTACTTGGTCTGCATTCTCGTTGCAATTGCAGTCGCATGAGCAATTGCTGTGGTTGAGGCCCGAACTGCGCAGTGCCTGTCTGCCATGGGTCTCCTGCTTCCTCTAAGCACAGTGCCTGACACACAGTGAGACCTCAGCACGTATGGGCTGAGGCAATGAAGGAATGAAGGATCCCATGACCCAAAAGAGCGTGTTGGAAAGTGCAGGCCAGGGTCCCAGGTGCTGGCGGGGCTGGCTGCTGGGTGGGGGCAGAGAGGCAACCCCTCTGTTTTTTTCCCTCTCAGGGCATGATCACAAGGGCCACCCCCACACTAGCTACTACCAGTATGGCCTGGGCATTCTGGCCCTGTGTCTCCACCAGAAGCGGGTCCATGACAGCGTGGTGGACAAACTTCTGTATGCTGTGGAACCTTTCCACCAGGGCCACCATTCTGTGGGTGAGTAGGTCAGACCGTGCCAAGGCCAGGCTGGCACTCCCTCAGTCCCCAGGTCTGCACTGATGACCTCCATACCCTGGCCCCCACACTCACCTTTCCTTGGGGCTCCTCCGAATCAAGTCCTTTAGGGACGAATTGGCGAGGGCTCATGGGTGATGCTTCAGCTGTGAGCCAGCTTTGGAGCTGGTAGGTGGATCTCTTGAGGCCAGGAGTTCAAGACAACGTGGTGAAACCCCATCTCTACTAAAAATAAAAAAGTTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGCTGCAGTGAGTGGAGATCGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAGTGAGACTCTGTCTCAAAAAATAAAAAATAAAATAAAACTCCCCTAGTGATTCCAATGTGCAGCTAAGTTTGGAAATAGGTGGTATGGGGTCAAGTCCTCTTGGGCCTCCCTCCTCCAGTCCTTCTCCCTAACCTCTAGCCCTCAAGTTGCAGAGTGATCAGCCAAACCAGTTTGCCCAGAAATGAGCAGTTTCCTGGGACACAGGATTTTCAGAGTCCAGACAAGGAAAGTCTTGGGCAGACCAGGTTGAGTTGGTGCCCTTAGCTGATCTGACCATGTTGCCCTTCTTCTCCAAGCCCTCCTGTGGTTGTCCATAGCTACAAGGGCCTGACCCTCAAGCCCCTGCCTGTCCTGGCCCCTTTGGCTCTCCAGCTCATTGCATGTTCTGTCCCCCACTTCAAGACACAGCAGCCATGGCAGGCTTGGCATTCACCTGTCTGAAGCGCTCAAACTTCAACCCTGGTCGGAGACAACGGATCACCATGGCCATCAGAACAGTGCGAGAGGAGATCTTGAAGGCCCAGACCCCCGAGGGCCACTTTGGGAATGTCTACAGCACCCCATTGGCATTACAGGTGGGAAAGAGACCCTGGAGCCATGGCCACCCTGGGGAACAGTCAGGGGTGGAGTGGTCAGGTGCTGGAACACCTAGCCCCTCCCTGCCGGCTGACTTCCTCTCTCTCTTCCTCACTCTATCACCAGTTCCTCATGACTTCCCCCATGCGTGGGGCAGAACTGGGAACAGCATGTCTCAAGGCGAGGGTTGCTTTGCTGGCCAGTCTGCAGGATGGAGCCTTCCAGAATGCTCTCATGATTTCCCAGCTGCTGCCCGTTCTGAACCACAAGACCTACATTGATCTGATCTTCCCAGACTGTCTGGCACCACGAGGTAGCCCAACTTTTTGTGGAAGCACAGCCCTTTACAATCTGCTGCGCACCCATTGACGTCCCAGTGAGGGGAGGTTGCTTCATCCTGATTTGCTGAGTCAGCACAAGATTGTGGGTGTGCATGGGACACAGCAGCCAAAATGTGGTCATAGCTTCTAGAAGCTCACAGTGTGGGGAGGAAGACAGTAAATGGAGATCCCTGGGCATATCGCTTGTGTGATACCCAGTACAGAAATGTTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGAGGAGAGACACATTTTGGTTAACTCTAATACAACATGATAAGCCCCAGTAGCAGCATGATCCAGGCTTTCTCTGAGAGAGGGTCTGAGGACGTGACTGGGATTTGCCAATTAAGAATGGAGAAAGAGGCCAGGTGCAGTGACTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGCTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGCGAAACTCCATCTATTAAAAATACAAAAAAGTAGCTGGGTGTGGTGGCGAGTGCCTGTAACCCCAGCTAAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCTCAGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGTGACAGAGTAAGACTATGTCTCAAAAAAAAAAAAAAAAAATGGAGAAGAAGGAAGCTGGACATGGTGGCTCGTGCTTATAATCCTAGCACTCTGGGAAGCTGAGGCAGATGGATTGCCTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAATACGAAAGATTAGCCAGGCATGGTGGTAGACACCTATAATCCCAGCTACTAGGGAGGCTGAGCCACAAGAATCACTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTTCAGCCTGGGCGACAGTGTGAGACTCTGTCTCCAGAAAAAACAAGAATGGATAGAGTGGAGCCAAGAAGAGGCAGGAAGAACAAAGACACAGAGGTGCACAGAGTTTGGGGGAATTTTGAGGAATGGTCTTGCAAAAGAGTGGGATCTGGGAGAATGAGTGGGAGTGGAAAGCAGATGAATGAAGAGAAGGTGAGCGCATCAGGGTAACAGAGATGCGTTGTGAACAAATGCATGTTCTAGGAAGAGCCCTCTGGAGTGCTAGGTGCCAGAGAGGTGGGAGGAAGGATACTGGAAGCAGAGAAACCAGTGAGGGGCCTGATCTTGGGTGGTGGGGAATGAGGGACAGGGGAGGCCGGGATGGAAGCCAGGTGGTGGGGAATGAGGGACAGGGGAGGCCGGGATGGAAGCCAGGTTTCAGCTGAGCAGGTGGCGGTGGCATTGATGGAGATGAGGACATGGGGAAGGACAAAGTCCAGGTGTCCTTGAGGGAAGACAAGAAGACAAATAATCCAGGCTCTCTGTCCTCACACCAGCTGCCCGCCCCTTTCTTCCTGGCACAGTCATGTTGGAACCAGCTGCTGAGACCATTCCTCAGACCCAAGAGATCATCAGTGTCACGCTGCAGGTGCTTAGTCTCTTGCCGCCGTACAGACAGTCCATCTCTGTTCTGGCCGGGTCCACCGTGGAAGATGTCCTGAAGAAGGCCCATGAGTTAGGAGGATTCACGTGAGACTCCCACCTCCCAGTCCTCACCCCACCCAACCTCACATGCCTGATAACAGGGTCACAGAAGAG
|
GGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCTTGCCTTAGCCTCCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGTTAGGCCCACTGACAAGCCTTGTATTGGCTAGCCACCAAGATTGACTTGATTATCCACCTTCGGGACAACTGGACAGCCTGCTTATGACTTACGCCATAGTCTGTCTCTACTAGCTCTCCTGCCCTGACTTGACCCAGCATACAACAGCCAGAGCCAGCCTTTTCAATATAAACCTGATCTTGCTGGCACTGCTTAAACCCTGCAGGGGCCTCGCACTGCTCCATGGCCCAGCCTGTCTACCCTTACCTTCTGCCCAGGCTGTGCTCATCCATTCTCTGCCTCCCACACACCTGCCCTCTGTGGGCTCCAGCCATACCATCTCTCAACTCATAAGCCAGTTTTTTCATACAGGCTCCCTCCATCTGGACTGGCTTCCCTGCGTGCAGTTCACTCCTGCTCTACCTTTGGCTCTGCCTCCACCCATCCTCAGCCGTCTCCAGCATTACCTCCTTGGAGAATCCTGCCTTGACTTCCCAGCCACCCAAATATCACTACTTGGTCTGCATTCTCGTTGCAATTGCAGTCGCATGAGCAATTGCTGTGGTTGAGGCCCGAACTGCGCAGTGCCTGTCTGCCATGGGTCTCCTGCTTCCTCTAAGCACAGTGCCTGACACACAGTGAGACCTCAGCACGTATGGGCTGAGGCAATGAAGGAATGAAGGATCCCATGACCCAAAAGAGCGTGTTGGAAAGTGCAGGCCAGGGTCCCAGGTGCTGGCGGGGCTGGCTGCTGGGTGGGGGCAGAGAGGCAACCCCTCTGTTTTTTTCCCTCTCAGGGCATGATCACAAGGGCCACCCCCACACTAGCTACTACCAGTATGGCCTGGGCATTCTGGCCCTGTGTCTCCACCAGAAGCGGGTCCATGACAGCGTGGTGGACAAACTTCTGTATGCTGTGGAACCTTTCCACCAGGGCCACCATTCTGTGGGTGAGTAGGTCAGACCGTGCCAAGGCCAGGCTGGCACTCCCTCAGTCCCCAGGTCTGCACTGATGACCTCCATACCCTGGCCCCCACACTCACCTTTCCTTGGGGCTCCTCCGAATCAAGTCCTTTAGGGACGAATTGGCGAGGGCTCATGGGTGATGCTTCAGCTGTGAGCCAGCTTTGGAGCTGGTAGGTGGATCTCTTGAGGCCAGGAGTTCAAGACAACGTGGTGAAACCCCATCTCTACTAAAAATAAAAAAGTTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGCTGCAGTGAGTGGAGATCGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAGTGAGACTCTGTCTCAAAAAATAAAAAATAAAATAAAACTCCCCTAGTGATTCCAATGTGCAGCTAAGTTTGGAAATAGGTGGTATGGGGTCAAGTCCTCTTGGGCCTCCCTCCTCCAGTCCTTCTCCCTAACCTCTAGCCCTCAAGTTGCAGAGTGATCAGCCAAACCAGTTTGCCCAGAAATGAGCAGTTTCCTGGGACACAGGATTTTCAGAGTCCAGACAAGGAAAGTCTTGGGCAGACCAGGTTGAGTTGGTGCCCTTAGCTGATCTGACCATGTTGCCCTTCTTCTCCAAGCCCTCCTGTGGTTGTCCATAGCTACAAGGGCCTGACCCTCAAGCCCCTGCCTGTCCTGGCCCCTTTGGCTCTCCAGCTCATTGCATGTTCTGTCCCCCACTTCAAGACACAGCAGCCATGGCAGGCTTGGCATTCACCTGTCTGAAGCGCTCAAACTTCAACCCTGGTCGGAGACAACGGATCACCATGGCCATCAGAACAGTGCGAGAGGAGATCTTGAAGGCCCAGACCCCCGAGGGCCACTTTGGGAATGTCTACAGCACCCCATTGGCATTACAGGTGGGAAAGAGACCCTGGAGCCATGGCCACCCTGGGGAACAGTCGGGTGGAGTGGTCAGGTGCTGGAACACCTAGCCCCTCCCTGCCGGCTGACTTCCTCTCTCTCTTCCTCACTCTATCACCAGTTCCTCATGACTTCCCCCATGCGTGGGGCAGAACTGGGAACAGCATGTCTCAAGGCGAGGGTTGCTTTGCTGGCCAGTCTGCAGGATGGAGCCTTCCAGAATGCTCTCATGATTTCCCAGCTGCTGCCCGTTCTGAACCACAAGACCTACATTGATCTGATCTTCCCAGACTGTCTGGCACCACGAGGTAGCCCAACTTTTTGTGGAAGCACAGCCCTTTACAATCTGCTGCGCACCCATTGACGTCCCAGTGAGGGGAGGTTGCTTCATCCTGATTTGCTGAGTCAGCACAAGATTGTGGGTGTGCATGGGACACAGCAGCCAAAATGTGGTCATAGCTTCTAGAAGCTCACAGTGTGGGGAGGAAGACAGTAAATGGAGATCCCTGGGCATATCGCTTGTGTGATACCCAGTACAGAAATGTTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGAGGAGAGACACATTTTGGTTAACTCTAATACAACATGATAAGCCCCAGTAGCAGCATGATCCAGGCTTTCTCTGAGAGAGGGTCTGAGGACGTGACTGGGATTTGCCAATTAAGAATGGAGAAAGAGGCCAGGTGCAGTGACTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGCTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGCGAAACTCCATCTATTAAAAATACAAAAAAGTAGCTGGGTGTGGTGGCGAGTGCCTGTAACCCCAGCTAAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCTCAGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGTGACAGAGTAAGACTATGTCTCAAAAAAAAAAAAAAAAAATGGAGAAGAAGGAAGCTGGACATGGTGGCTCGTGCTTATAATCCTAGCACTCTGGGAAGCTGAGGCAGATGGATTGCCTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAATACGAAAGATTAGCCAGGCATGGTGGTAGACACCTATAATCCCAGCTACTAGGGAGGCTGAGCCACAAGAATCACTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTTCAGCCTGGGCGACAGTGTGAGACTCTGTCTCCAGAAAAAACAAGAATGGATAGAGTGGAGCCAAGAAGAGGCAGGAAGAACAAAGACACAGAGGTGCACAGAGTTTGGGGGAATTTTGAGGAATGGTCTTGCAAAAGAGTGGGATCTGGGAGAATGAGTGGGAGTGGAAAGCAGATGAATGAAGAGAAGGTGAGCGCATCAGGGTAACAGAGATGCGTTGTGAACAAATGCATGTTCTAGGAAGAGCCCTCTGGAGTGCTAGGTGCCAGAGAGGTGGGAGGAAGGATACTGGAAGCAGAGAAACCAGTGAGGGGCCTGATCTTGGGTGGTGGGGAATGAGGGACAGGGGAGGCCGGGATGGAAGCCAGGTGGTGGGGAATGAGGGACAGGGGAGGCCGGGATGGAAGCCAGGTTTCAGCTGAGCAGGTGGCGGTGGCATTGATGGAGATGAGGACATGGGGAAGGACAAAGTCCAGGTGTCCTTGAGGGAAGACAAGAAGACAAATAATCCAGGCTCTCTGTCCTCACACCAGCTGCCCGCCCCTTTCTTCCTGGCACAGTCATGTTGGAACCAGCTGCTGAGACCATTCCTCAGACCCAAGAGATCATCAGTGTCACGCTGCAGGTGCTTAGTCTCTTGCCGCCGTACAGACAGTCCATCTCTGTTCTGGCCGGGTCCACCGTGGAAGATGTCCTGAAGAAGGCCCATGAGTTAGGAGGATTCACGTGAGACTCCCACCTCCCAGTCCTCACCCCACCCAACCTCACATGCCTGATAACAGGGTCACAGAAGAGNN
|
benign
| 325,621 |
Gene TCN2 (transcobalamin 2) variant at chromosome 22, position 30615611—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Transcobalamin_II_deficiency']
|
GCCACTGCGTTAGGCCCACTGACAAGCCTTGTATTGGCTAGCCACCAAGATTGACTTGATTATCCACCTTCGGGACAACTGGACAGCCTGCTTATGACTTACGCCATAGTCTGTCTCTACTAGCTCTCCTGCCCTGACTTGACCCAGCATACAACAGCCAGAGCCAGCCTTTTCAATATAAACCTGATCTTGCTGGCACTGCTTAAACCCTGCAGGGGCCTCGCACTGCTCCATGGCCCAGCCTGTCTACCCTTACCTTCTGCCCAGGCTGTGCTCATCCATTCTCTGCCTCCCACACACCTGCCCTCTGTGGGCTCCAGCCATACCATCTCTCAACTCATAAGCCAGTTTTTTCATACAGGCTCCCTCCATCTGGACTGGCTTCCCTGCGTGCAGTTCACTCCTGCTCTACCTTTGGCTCTGCCTCCACCCATCCTCAGCCGTCTCCAGCATTACCTCCTTGGAGAATCCTGCCTTGACTTCCCAGCCACCCAAATATCACTACTTGGTCTGCATTCTCGTTGCAATTGCAGTCGCATGAGCAATTGCTGTGGTTGAGGCCCGAACTGCGCAGTGCCTGTCTGCCATGGGTCTCCTGCTTCCTCTAAGCACAGTGCCTGACACACAGTGAGACCTCAGCACGTATGGGCTGAGGCAATGAAGGAATGAAGGATCCCATGACCCAAAAGAGCGTGTTGGAAAGTGCAGGCCAGGGTCCCAGGTGCTGGCGGGGCTGGCTGCTGGGTGGGGGCAGAGAGGCAACCCCTCTGTTTTTTTCCCTCTCAGGGCATGATCACAAGGGCCACCCCCACACTAGCTACTACCAGTATGGCCTGGGCATTCTGGCCCTGTGTCTCCACCAGAAGCGGGTCCATGACAGCGTGGTGGACAAACTTCTGTATGCTGTGGAACCTTTCCACCAGGGCCACCATTCTGTGGGTGAGTAGGTCAGACCGTGCCAAGGCCAGGCTGGCACTCCCTCAGTCCCCAGGTCTGCACTGATGACCTCCATACCCTGGCCCCCACACTCACCTTTCCTTGGGGCTCCTCCGAATCAAGTCCTTTAGGGACGAATTGGCGAGGGCTCATGGGTGATGCTTCAGCTGTGAGCCAGCTTTGGAGCTGGTAGGTGGATCTCTTGAGGCCAGGAGTTCAAGACAACGTGGTGAAACCCCATCTCTACTAAAAATAAAAAAGTTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGCTGCAGTGAGTGGAGATCGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAGTGAGACTCTGTCTCAAAAAATAAAAAATAAAATAAAACTCCCCTAGTGATTCCAATGTGCAGCTAAGTTTGGAAATAGGTGGTATGGGGTCAAGTCCTCTTGGGCCTCCCTCCTCCAGTCCTTCTCCCTAACCTCTAGCCCTCAAGTTGCAGAGTGATCAGCCAAACCAGTTTGCCCAGAAATGAGCAGTTTCCTGGGACACAGGATTTTCAGAGTCCAGACAAGGAAAGTCTTGGGCAGACCAGGTTGAGTTGGTGCCCTTAGCTGATCTGACCATGTTGCCCTTCTTCTCCAAGCCCTCCTGTGGTTGTCCATAGCTACAAGGGCCTGACCCTCAAGCCCCTGCCTGTCCTGGCCCCTTTGGCTCTCCAGCTCATTGCATGTTCTGTCCCCCACTTCAAGACACAGCAGCCATGGCAGGCTTGGCATTCACCTGTCTGAAGCGCTCAAACTTCAACCCTGGTCGGAGACAACGGATCACCATGGCCATCAGAACAGTGCGAGAGGAGATCTTGAAGGCCCAGACCCCCGAGGGCCACTTTGGGAATGTCTACAGCACCCCATTGGCATTACAGGTGGGAAAGAGACCCTGGAGCCATGGCCACCCTGGGGAACAGTCAGGGGTGGAGTGGTCAGGTGCTGGAACACCTAGCCCCTCCCTGCCGGCTGACTTCCTCTCTCTCTTCCTCACTCTATCACCAGTTCCTCATGACTTCCCCCATGCGTGGGGCAGAACTGGGAACAGCATGTCTCAAGGCGAGGGTTGCTTTGCTGGCCAGTCTGCAGGATGGAGCCTTCCAGAATGCTCTCATGATTTCCCAGCTGCTGCCCGTTCTGAACCACAAGACCTACATTGATCTGATCTTCCCAGACTGTCTGGCACCACGAGGTAGCCCAACTTTTTGTGGAAGCACAGCCCTTTACAATCTGCTGCGCACCCATTGACGTCCCAGTGAGGGGAGGTTGCTTCATCCTGATTTGCTGAGTCAGCACAAGATTGTGGGTGTGCATGGGACACAGCAGCCAAAATGTGGTCATAGCTTCTAGAAGCTCACAGTGTGGGGAGGAAGACAGTAAATGGAGATCCCTGGGCATATCGCTTGTGTGATACCCAGTACAGAAATGTTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGAGGAGAGACACATTTTGGTTAACTCTAATACAACATGATAAGCCCCAGTAGCAGCATGATCCAGGCTTTCTCTGAGAGAGGGTCTGAGGACGTGACTGGGATTTGCCAATTAAGAATGGAGAAAGAGGCCAGGTGCAGTGACTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGCTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGCGAAACTCCATCTATTAAAAATACAAAAAAGTAGCTGGGTGTGGTGGCGAGTGCCTGTAACCCCAGCTAAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCTCAGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGTGACAGAGTAAGACTATGTCTCAAAAAAAAAAAAAAAAAATGGAGAAGAAGGAAGCTGGACATGGTGGCTCGTGCTTATAATCCTAGCACTCTGGGAAGCTGAGGCAGATGGATTGCCTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAATACGAAAGATTAGCCAGGCATGGTGGTAGACACCTATAATCCCAGCTACTAGGGAGGCTGAGCCACAAGAATCACTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTTCAGCCTGGGCGACAGTGTGAGACTCTGTCTCCAGAAAAAACAAGAATGGATAGAGTGGAGCCAAGAAGAGGCAGGAAGAACAAAGACACAGAGGTGCACAGAGTTTGGGGGAATTTTGAGGAATGGTCTTGCAAAAGAGTGGGATCTGGGAGAATGAGTGGGAGTGGAAAGCAGATGAATGAAGAGAAGGTGAGCGCATCAGGGTAACAGAGATGCGTTGTGAACAAATGCATGTTCTAGGAAGAGCCCTCTGGAGTGCTAGGTGCCAGAGAGGTGGGAGGAAGGATACTGGAAGCAGAGAAACCAGTGAGGGGCCTGATCTTGGGTGGTGGGGAATGAGGGACAGGGGAGGCCGGGATGGAAGCCAGGTGGTGGGGAATGAGGGACAGGGGAGGCCGGGATGGAAGCCAGGTTTCAGCTGAGCAGGTGGCGGTGGCATTGATGGAGATGAGGACATGGGGAAGGACAAAGTCCAGGTGTCCTTGAGGGAAGACAAGAAGACAAATAATCCAGGCTCTCTGTCCTCACACCAGCTGCCCGCCCCTTTCTTCCTGGCACAGTCATGTTGGAACCAGCTGCTGAGACCATTCCTCAGACCCAAGAGATCATCAGTGTCACGCTGCAGGTGCTTAGTCTCTTGCCGCCGTACAGACAGTCCATCTCTGTTCTGGCCGGGTCCACCGTGGAAGATGTCCTGAAGAAGGCCCATGAGTTAGGAGGATTCACGTGAGACTCCCACCTCCCAGTCCTCACCCCACCCAACCTCACATGCCTGATAACAGGGTCACAGAAGAGACGGGGAACAGAGGAGAGGGTTCCCTCGGGAGAGACACTGGCCCTGCTTCTGCTTCTACCTGCTCAGCTCCTTTCTTGCCCACGGTGTTATGGA
|
GCCACTGCGTTAGGCCCACTGACAAGCCTTGTATTGGCTAGCCACCAAGATTGACTTGATTATCCACCTTCGGGACAACTGGACAGCCTGCTTATGACTTACGCCATAGTCTGTCTCTACTAGCTCTCCTGCCCTGACTTGACCCAGCATACAACAGCCAGAGCCAGCCTTTTCAATATAAACCTGATCTTGCTGGCACTGCTTAAACCCTGCAGGGGCCTCGCACTGCTCCATGGCCCAGCCTGTCTACCCTTACCTTCTGCCCAGGCTGTGCTCATCCATTCTCTGCCTCCCACACACCTGCCCTCTGTGGGCTCCAGCCATACCATCTCTCAACTCATAAGCCAGTTTTTTCATACAGGCTCCCTCCATCTGGACTGGCTTCCCTGCGTGCAGTTCACTCCTGCTCTACCTTTGGCTCTGCCTCCACCCATCCTCAGCCGTCTCCAGCATTACCTCCTTGGAGAATCCTGCCTTGACTTCCCAGCCACCCAAATATCACTACTTGGTCTGCATTCTCGTTGCAATTGCAGTCGCATGAGCAATTGCTGTGGTTGAGGCCCGAACTGCGCAGTGCCTGTCTGCCATGGGTCTCCTGCTTCCTCTAAGCACAGTGCCTGACACACAGTGAGACCTCAGCACGTATGGGCTGAGGCAATGAAGGAATGAAGGATCCCATGACCCAAAAGAGCGTGTTGGAAAGTGCAGGCCAGGGTCCCAGGTGCTGGCGGGGCTGGCTGCTGGGTGGGGGCAGAGAGGCAACCCCTCTGTTTTTTTCCCTCTCAGGGCATGATCACAAGGGCCACCCCCACACTAGCTACTACCAGTATGGCCTGGGCATTCTGGCCCTGTGTCTCCACCAGAAGCGGGTCCATGACAGCGTGGTGGACAAACTTCTGTATGCTGTGGAACCTTTCCACCAGGGCCACCATTCTGTGGGTGAGTAGGTCAGACCGTGCCAAGGCCAGGCTGGCACTCCCTCAGTCCCCAGGTCTGCACTGATGACCTCCATACCCTGGCCCCCACACTCACCTTTCCTTGGGGCTCCTCCGAATCAAGTCCTTTAGGGACGAATTGGCGAGGGCTCATGGGTGATGCTTCAGCTGTGAGCCAGCTTTGGAGCTGGTAGGTGGATCTCTTGAGGCCAGGAGTTCAAGACAACGTGGTGAAACCCCATCTCTACTAAAAATAAAAAAGTTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGCTGCAGTGAGTGGAGATCGCACCACTGCCCTCCAGCCTGGGCAACAGAGTGAGTGAGACTCTGTCTCAAAAAATAAAAAATAAAATAAAACTCCCCTAGTGATTCCAATGTGCAGCTAAGTTTGGAAATAGGTGGTATGGGGTCAAGTCCTCTTGGGCCTCCCTCCTCCAGTCCTTCTCCCTAACCTCTAGCCCTCAAGTTGCAGAGTGATCAGCCAAACCAGTTTGCCCAGAAATGAGCAGTTTCCTGGGACACAGGATTTTCAGAGTCCAGACAAGGAAAGTCTTGGGCAGACCAGGTTGAGTTGGTGCCCTTAGCTGATCTGACCATGTTGCCCTTCTTCTCCAAGCCCTCCTGTGGTTGTCCATAGCTACAAGGGCCTGACCCTCAAGCCCCTGCCTGTCCTGGCCCCTTTGGCTCTCCAGCTCATTGCATGTTCTGTCCCCCACTTCAAGACACAGCAGCCATGGCAGGCTTGGCATTCACCTGTCTGAAGCGCTCAAACTTCAACCCTGGTCGGAGACAACGGATCACCATGGCCATCAGAACAGTGCGAGAGGAGATCTTGAAGGCCCAGACCCCCGAGGGCCACTTTGGGAATGTCTACAGCACCCCATTGGCATTACAGGTGGGAAAGAGACCCTGGAGCCATGGCCACCCTGGGGAACAGTCAGGGGTGGAGTGGTCAGGTGCTGGAACACCTAGCCCCTCCCTGCCGGCTGACTTCCTCTCTCTCTTCCTCACTCTATCACCAGTTCCTCATGACTTTCCCCCATGCGTGGGGCAGAACTGGGAACAGCATGTCTCAAGGCGAGGGTTGCTTTGCTGGCCAGTCTGCAGGATGGAGCCTTCCAGAATGCTCTCATGATTTCCCAGCTGCTGCCCGTTCTGAACCACAAGACCTACATTGATCTGATCTTCCCAGACTGTCTGGCACCACGAGGTAGCCCAACTTTTTGTGGAAGCACAGCCCTTTACAATCTGCTGCGCACCCATTGACGTCCCAGTGAGGGGAGGTTGCTTCATCCTGATTTGCTGAGTCAGCACAAGATTGTGGGTGTGCATGGGACACAGCAGCCAAAATGTGGTCATAGCTTCTAGAAGCTCACAGTGTGGGGAGGAAGACAGTAAATGGAGATCCCTGGGCATATCGCTTGTGTGATACCCAGTACAGAAATGTTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGAGGAGAGACACATTTTGGTTAACTCTAATACAACATGATAAGCCCCAGTAGCAGCATGATCCAGGCTTTCTCTGAGAGAGGGTCTGAGGACGTGACTGGGATTTGCCAATTAAGAATGGAGAAAGAGGCCAGGTGCAGTGACTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGCTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGCGAAACTCCATCTATTAAAAATACAAAAAAGTAGCTGGGTGTGGTGGCGAGTGCCTGTAACCCCAGCTAAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCTCAGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGTGACAGAGTAAGACTATGTCTCAAAAAAAAAAAAAAAAAATGGAGAAGAAGGAAGCTGGACATGGTGGCTCGTGCTTATAATCCTAGCACTCTGGGAAGCTGAGGCAGATGGATTGCCTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAATACGAAAGATTAGCCAGGCATGGTGGTAGACACCTATAATCCCAGCTACTAGGGAGGCTGAGCCACAAGAATCACTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTTCAGCCTGGGCGACAGTGTGAGACTCTGTCTCCAGAAAAAACAAGAATGGATAGAGTGGAGCCAAGAAGAGGCAGGAAGAACAAAGACACAGAGGTGCACAGAGTTTGGGGGAATTTTGAGGAATGGTCTTGCAAAAGAGTGGGATCTGGGAGAATGAGTGGGAGTGGAAAGCAGATGAATGAAGAGAAGGTGAGCGCATCAGGGTAACAGAGATGCGTTGTGAACAAATGCATGTTCTAGGAAGAGCCCTCTGGAGTGCTAGGTGCCAGAGAGGTGGGAGGAAGGATACTGGAAGCAGAGAAACCAGTGAGGGGCCTGATCTTGGGTGGTGGGGAATGAGGGACAGGGGAGGCCGGGATGGAAGCCAGGTGGTGGGGAATGAGGGACAGGGGAGGCCGGGATGGAAGCCAGGTTTCAGCTGAGCAGGTGGCGGTGGCATTGATGGAGATGAGGACATGGGGAAGGACAAAGTCCAGGTGTCCTTGAGGGAAGACAAGAAGACAAATAATCCAGGCTCTCTGTCCTCACACCAGCTGCCCGCCCCTTTCTTCCTGGCACAGTCATGTTGGAACCAGCTGCTGAGACCATTCCTCAGACCCAAGAGATCATCAGTGTCACGCTGCAGGTGCTTAGTCTCTTGCCGCCGTACAGACAGTCCATCTCTGTTCTGGCCGGGTCCACCGTGGAAGATGTCCTGAAGAAGGCCCATGAGTTAGGAGGATTCACGTGAGACTCCCACCTCCCAGTCCTCACCCCACCCAACCTCACATGCCTGATAACAGGGTCACAGAAGAGACGGGGAACAGAGGAGAGGGTTCCCTCGGGAGAGACACTGGCCCTGCTTCTGCTTCTACCTGCTCAGCTCCTTTCTTGCCCACGGTGTTATGG
|
pathogenic
| 325,623 |
Classify the chromosome 22 variant at position 30617385 affecting gene TCN2 (transcobalamin 2) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Transcobalamin_II_deficiency']
|
TGAAGCGCTCAAACTTCAACCCTGGTCGGAGACAACGGATCACCATGGCCATCAGAACAGTGCGAGAGGAGATCTTGAAGGCCCAGACCCCCGAGGGCCACTTTGGGAATGTCTACAGCACCCCATTGGCATTACAGGTGGGAAAGAGACCCTGGAGCCATGGCCACCCTGGGGAACAGTCAGGGGTGGAGTGGTCAGGTGCTGGAACACCTAGCCCCTCCCTGCCGGCTGACTTCCTCTCTCTCTTCCTCACTCTATCACCAGTTCCTCATGACTTCCCCCATGCGTGGGGCAGAACTGGGAACAGCATGTCTCAAGGCGAGGGTTGCTTTGCTGGCCAGTCTGCAGGATGGAGCCTTCCAGAATGCTCTCATGATTTCCCAGCTGCTGCCCGTTCTGAACCACAAGACCTACATTGATCTGATCTTCCCAGACTGTCTGGCACCACGAGGTAGCCCAACTTTTTGTGGAAGCACAGCCCTTTACAATCTGCTGCGCACCCATTGACGTCCCAGTGAGGGGAGGTTGCTTCATCCTGATTTGCTGAGTCAGCACAAGATTGTGGGTGTGCATGGGACACAGCAGCCAAAATGTGGTCATAGCTTCTAGAAGCTCACAGTGTGGGGAGGAAGACAGTAAATGGAGATCCCTGGGCATATCGCTTGTGTGATACCCAGTACAGAAATGTTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGAGGAGAGACACATTTTGGTTAACTCTAATACAACATGATAAGCCCCAGTAGCAGCATGATCCAGGCTTTCTCTGAGAGAGGGTCTGAGGACGTGACTGGGATTTGCCAATTAAGAATGGAGAAAGAGGCCAGGTGCAGTGACTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGCTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGCGAAACTCCATCTATTAAAAATACAAAAAAGTAGCTGGGTGTGGTGGCGAGTGCCTGTAACCCCAGCTAAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCTCAGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGTGACAGAGTAAGACTATGTCTCAAAAAAAAAAAAAAAAAATGGAGAAGAAGGAAGCTGGACATGGTGGCTCGTGCTTATAATCCTAGCACTCTGGGAAGCTGAGGCAGATGGATTGCCTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAATACGAAAGATTAGCCAGGCATGGTGGTAGACACCTATAATCCCAGCTACTAGGGAGGCTGAGCCACAAGAATCACTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTTCAGCCTGGGCGACAGTGTGAGACTCTGTCTCCAGAAAAAACAAGAATGGATAGAGTGGAGCCAAGAAGAGGCAGGAAGAACAAAGACACAGAGGTGCACAGAGTTTGGGGGAATTTTGAGGAATGGTCTTGCAAAAGAGTGGGATCTGGGAGAATGAGTGGGAGTGGAAAGCAGATGAATGAAGAGAAGGTGAGCGCATCAGGGTAACAGAGATGCGTTGTGAACAAATGCATGTTCTAGGAAGAGCCCTCTGGAGTGCTAGGTGCCAGAGAGGTGGGAGGAAGGATACTGGAAGCAGAGAAACCAGTGAGGGGCCTGATCTTGGGTGGTGGGGAATGAGGGACAGGGGAGGCCGGGATGGAAGCCAGGTGGTGGGGAATGAGGGACAGGGGAGGCCGGGATGGAAGCCAGGTTTCAGCTGAGCAGGTGGCGGTGGCATTGATGGAGATGAGGACATGGGGAAGGACAAAGTCCAGGTGTCCTTGAGGGAAGACAAGAAGACAAATAATCCAGGCTCTCTGTCCTCACACCAGCTGCCCGCCCCTTTCTTCCTGGCACAGTCATGTTGGAACCAGCTGCTGAGACCATTCCTCAGACCCAAGAGATCATCAGTGTCACGCTGCAGGTGCTTAGTCTCTTGCCGCCGTACAGACAGTCCATCTCTGTTCTGGCCGGGTCCACCGTGGAAGATGTCCTGAAGAAGGCCCATGAGTTAGGAGGATTCACGTGAGACTCCCACCTCCCAGTCCTCACCCCACCCAACCTCACATGCCTGATAACAGGGTCACAGAAGAGACGGGGAACAGAGGAGAGGGTTCCCTCGGGAGAGACACTGGCCCTGCTTCTGCTTCTACCTGCTCAGCTCCTTTCTTGCCCACGGTGTTATGGAAACAGGGAGCCATAGGCCAGCATTGTCACTGAGAGAGCAGGCTTTGGAGGCAGAGCCCCCCAGTTGGAATCCCAACTCTAACCAGCTAGGTTCCAGGTAGGCACCCACAATTCACCGAGGAGAACAGTTGTGCCCCTTCCCTGCAGGGCCAGTGTGAAGAGTCCAGGAGTTAGTACACATAGAGATAGTGGCATGTGCTTTTTATATGTGCAAGGTCCAGCACATAGCAAGCGCTCAACACAGCGTTGCTTTCATCAGAGTAAGAACTGTTTTTTGTTTGTTTGTTTGTTTGTTTTTAAGAGACAGGGTCTCAATCTTATCACCCAGGCTGGAGTGTAATTGTGCAATCACGTCTCACTGCAGTCTCGAACTCTGGGGATGAAGCAACCCTACTGTCCTGCCTCAGCCTCCCAAATAGCTGAGACTATAGGCACGTGCCACACAACCCTGGGTAATTTTTTTTTTTTTTTTTTTTGAGATAGGGTCTCTGTCTGTTGCCCAGGCTGGTCTCAAATTCCTGGCCTCAAACCATCCTCACACCTGAGGCGCTCAAAATATTGGGATTATAGGTGCGAGCCATCATGCTCAGCCAGAATAATAACTGGTTTTTTTTGTTTTTTTTTTTGAGACAGAGTCTCACTCTATTACCCAGGCTCTGGAGGCCCAACTCGTGTTTGTGTATTTGTTTATTTTTATTTATTTATTTATTTCGAGACAGAGCCTCTCTCTTTCACCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCTGGGTTCAAGTGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGCGCTACAGGCGCGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTACTATGTTGGCCAGCTGGTTTCTAACTCCTGAACTCGGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCTCCGTGCCCGGCCATGTATTTATTTAGGCAAGGTCTCTCTCTGTTATCCAGGCTGAAGTGCAGTGGCACATTCATAGCTCACTGCAGCCTCAAATTATCCAAGTAACAGGGACTACAGGCATGCACCACCACACCCATCTACTTTTTTTTGAGATGGAGTCTCCCTCTGTCGCCCAGACTGGGTTGCAGTGGCACAATTTCAGCTCATGGCAGCATCTACCTCCCAGGTTCAAGCGATTCTCCTTCCTCAGTCTCCCGAGTAGCTGGGACTATGGGCATGCACCACCATACCTGGCTAATGTTTATATTTTGAGTAGAGATGGAATTTTGCCATTTTGGCCAGGCTGGTCTTGAGCTCTTGACCTCAAGTGATATGTCTGCCTCAGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACTATGCCTGGCCCAGAATAAGAACTTTTATTTTATTTGAGACAGGGTCTTACTCTGTCACCTAGGCTAGAGTGCAGTGGCACAATCACAGCTCACTGTAGCCTCAATCTTCCGGGCTCTGATCCTCCCACCTTAGCCTCCCAGGTAGCTGGGAACAACAGGCATGCGCCACCACGCTTGGCAAATATTTTTTTAAAATTTTTTGTAGACATGGGATTGCTTCATGTTGCCCAGACTGGTCTCAAACTCCTGGACTCAAGCGATCTACCCACCTTGGCCTCCCAAAGTGCTGAGATAACAGGCGTGAGCCGCCGTGGCTGGCCAGAATAAGAACTTTTATTATGAAATAAGTTTGGCCCTATCCTGTTATTAATTA
|
TGAAGCGCTCAAACTTCAACCCTGGTCGGAGACAACGGATCACCATGGCCATCAGAACAGTGCGAGAGGAGATCTTGAAGGCCCAGACCCCCGAGGGCCACTTTGGGAATGTCTACAGCACCCCATTGGCATTACAGGTGGGAAAGAGACCCTGGAGCCATGGCCACCCTGGGGAACAGTCAGGGGTGGAGTGGTCAGGTGCTGGAACACCTAGCCCCTCCCTGCCGGCTGACTTCCTCTCTCTCTTCCTCACTCTATCACCAGTTCCTCATGACTTCCCCCATGCGTGGGGCAGAACTGGGAACAGCATGTCTCAAGGCGAGGGTTGCTTTGCTGGCCAGTCTGCAGGATGGAGCCTTCCAGAATGCTCTCATGATTTCCCAGCTGCTGCCCGTTCTGAACCACAAGACCTACATTGATCTGATCTTCCCAGACTGTCTGGCACCACGAGGTAGCCCAACTTTTTGTGGAAGCACAGCCCTTTACAATCTGCTGCGCACCCATTGACGTCCCAGTGAGGGGAGGTTGCTTCATCCTGATTTGCTGAGTCAGCACAAGATTGTGGGTGTGCATGGGACACAGCAGCCAAAATGTGGTCATAGCTTCTAGAAGCTCACAGTGTGGGGAGGAAGACAGTAAATGGAGATCCCTGGGCATATCGCTTGTGTGATACCCAGTACAGAAATGTTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGAGGAGAGACACATTTTGGTTAACTCTAATACAACATGATAAGCCCCAGTAGCAGCATGATCCAGGCTTTCTCTGAGAGAGGGTCTGAGGACGTGACTGGGATTTGCCAATTAAGAATGGAGAAAGAGGCCAGGTGCAGTGACTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGCTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGCGAAACTCCATCTATTAAAAATACAAAAAAGTAGCTGGGTGTGGTGGCGAGTGCCTGTAACCCCAGCTAAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCTCAGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGTCTGGGTGACAGAGTAAGACTATGTCTCAAAAAAAAAAAAAAAAAATGGAGAAGAAGGAAGCTGGACATGGTGGCTCGTGCTTATAATCCTAGCACTCTGGGAAGCTGAGGCAGATGGATTGCCTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTTTACTAAAATACGAAAGATTAGCCAGGCATGGTGGTAGACACCTATAATCCCAGCTACTAGGGAGGCTGAGCCACAAGAATCACTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTTCAGCCTGGGCGACAGTGTGAGACTCTGTCTCCAGAAAAAACAAGAATGGATAGAGTGGAGCCAAGAAGAGGCAGGAAGAACAAAGACACAGAGGTGCACAGAGTTTGGGGGAATTTTGAGGAATGGTCTTGCAAAAGAGTGGGATCTGGGAGAATGAGTGGGAGTGGAAAGCAGATGAATGAAGAGAAGGTGAGCGCATCAGGGTAACAGAGATGCGTTGTGAACAAATGCATGTTCTAGGAAGAGCCCTCTGGAGTGCTAGGTGCCAGAGAGGTGGGAGGAAGGATACTGGAAGCAGAGAAACCAGTGAGGGGCCTGATCTTGGGTGGTGGGGAATGAGGGACAGGGGAGGCCGGGATGGAAGCCAGGTGGTGGGGAATGAGGGACAGGGGAGGCCGGGATGGAAGCCAGGTTTCAGCTGAGCAGGTGGCGGTGGCATTGATGGAGATGAGGACATGGGGAAGGACAAAGTCCAGGTGTCCTTGAGGGAAGACAAGAAGACAAATAATCCAGGCTCTCTGTCCTCACACCAGCTGCCCGCCCCTTTCTTCCTGGCACAGTCATGTTGGAACCAGCTGCTGAGACCATTCCTCAGACCCAAGAGATCATCAGTGTCAACGCTGCAGGTGCTTAGTCTCTTGCCGCCGTACAGACAGTCCATCTCTGTTCTGGCCGGGTCCACCGTGGAAGATGTCCTGAAGAAGGCCCATGAGTTAGGAGGATTCACGTGAGACTCCCACCTCCCAGTCCTCACCCCACCCAACCTCACATGCCTGATAACAGGGTCACAGAAGAGACGGGGAACAGAGGAGAGGGTTCCCTCGGGAGAGACACTGGCCCTGCTTCTGCTTCTACCTGCTCAGCTCCTTTCTTGCCCACGGTGTTATGGAAACAGGGAGCCATAGGCCAGCATTGTCACTGAGAGAGCAGGCTTTGGAGGCAGAGCCCCCCAGTTGGAATCCCAACTCTAACCAGCTAGGTTCCAGGTAGGCACCCACAATTCACCGAGGAGAACAGTTGTGCCCCTTCCCTGCAGGGCCAGTGTGAAGAGTCCAGGAGTTAGTACACATAGAGATAGTGGCATGTGCTTTTTATATGTGCAAGGTCCAGCACATAGCAAGCGCTCAACACAGCGTTGCTTTCATCAGAGTAAGAACTGTTTTTTGTTTGTTTGTTTGTTTGTTTTTAAGAGACAGGGTCTCAATCTTATCACCCAGGCTGGAGTGTAATTGTGCAATCACGTCTCACTGCAGTCTCGAACTCTGGGGATGAAGCAACCCTACTGTCCTGCCTCAGCCTCCCAAATAGCTGAGACTATAGGCACGTGCCACACAACCCTGGGTAATTTTTTTTTTTTTTTTTTTTGAGATAGGGTCTCTGTCTGTTGCCCAGGCTGGTCTCAAATTCCTGGCCTCAAACCATCCTCACACCTGAGGCGCTCAAAATATTGGGATTATAGGTGCGAGCCATCATGCTCAGCCAGAATAATAACTGGTTTTTTTTGTTTTTTTTTTTGAGACAGAGTCTCACTCTATTACCCAGGCTCTGGAGGCCCAACTCGTGTTTGTGTATTTGTTTATTTTTATTTATTTATTTATTTCGAGACAGAGCCTCTCTCTTTCACCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGTCTCCTGGGTTCAAGTGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGCGCTACAGGCGCGTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTACTATGTTGGCCAGCTGGTTTCTAACTCCTGAACTCGGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGGGCCTCCGTGCCCGGCCATGTATTTATTTAGGCAAGGTCTCTCTCTGTTATCCAGGCTGAAGTGCAGTGGCACATTCATAGCTCACTGCAGCCTCAAATTATCCAAGTAACAGGGACTACAGGCATGCACCACCACACCCATCTACTTTTTTTTGAGATGGAGTCTCCCTCTGTCGCCCAGACTGGGTTGCAGTGGCACAATTTCAGCTCATGGCAGCATCTACCTCCCAGGTTCAAGCGATTCTCCTTCCTCAGTCTCCCGAGTAGCTGGGACTATGGGCATGCACCACCATACCTGGCTAATGTTTATATTTTGAGTAGAGATGGAATTTTGCCATTTTGGCCAGGCTGGTCTTGAGCTCTTGACCTCAAGTGATATGTCTGCCTCAGCCTCCCAAAGTGCCGGGATTACAGGCATGAGCCACTATGCCTGGCCCAGAATAAGAACTTTTATTTTATTTGAGACAGGGTCTTACTCTGTCACCTAGGCTAGAGTGCAGTGGCACAATCACAGCTCACTGTAGCCTCAATCTTCCGGGCTCTGATCCTCCCACCTTAGCCTCCCAGGTAGCTGGGAACAACAGGCATGCGCCACCACGCTTGGCAAATATTTTTTTAAAATTTTTTGTAGACATGGGATTGCTTCATGTTGCCCAGACTGGTCTCAAACTCCTGGACTCAAGCGATCTACCCACCTTGGCCTCCCAAAGTGCTGAGATAACAGGCGTGAGCCGCCGTGGCTGGCCAGAATAAGAACTTTTATTATGAAATAAGTTTGGCCCTATCCTGTTATTAATT
|
pathogenic
| 325,633 |
A mutation at chromosome position 30622986 on chromosome 22 in gene TCN2 (transcobalamin 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Transcobalamin_II_deficiency']
|
GACATTCCTTAGAACAGTAGTTTCCCTTCGCTAAAGTCACCCCAAATAGGGTGGTGGTTGTTGTTGTTGTTTTGAGACGGAGTTGCATTCAGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGGGGCCCACCATCACACCTGGCTAGTTTTTGTATTTTTAGTAGAAATAGGGTTTCACCATGTGAGCCAGGCTGGTGTCAAACTCCCAACCTCAGGTGATCCACCCACCTCCGCCTCCTCAAGTGCTGGGATTACAGATGTGACCCACCGCGCCCCACCTGTGTTTCTTAAAACCAAAAAAATCCCTCTAAGACTGCAACCATCGATAACTTAGGGCTGTATTACCCCAGAGAGCACTTTGTAGAAGATGCGTTTGTTCACATCACTTCCCTGTTACTTTGACGGTCTCACCTCCTTTTCAGTCATTTGCATTCTCCCAGAACCTGCTCATTTGTTGTTTTTTGTTTGTTTGCTTGGTTTTGTTTTTGAGAAGCAGTCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGTGCGACCTCAGGTCACTGCAACCTCCGCCTACTAGGTTCAAGTGATTCTCCTGCCTCAGTCTCCTGAATAGCTGGGATTACAGGTGTGCACCACCATGCCCAGCCTAATTTTTGTATTATTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCATGAACTCCTGACCTCAAGTGATCCACCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACAGTGCCTGGCCTGACCCTGCTCTTTTGAAAGACCATTCCCCCAAATTCTGTGCACCTGTGTGCCTTTCTTCTCTCTGCCTCCTCTCAGCTCTGCCCCGCTCTCCTCCCTTCTCCTCTGGCAAATCCCACTCATCTCTTGAAGCCCTTCTTCCAGGGGAAGCCCTGATCATGCTGCTTTCTCCTGTGGGAGGGATGAAGGACGTGGCCCACGGAGTTTGTTTTGTTTTGTTTTGAGATGGAGTTTTGCTCATGTTGCCCAGGCTGGGGTACAATGGTACGATCTCAGCTCACTGCAACCTCTACGTCCCGGGTTCAAGCGGTTCTCCTGCCTTAGCCTCCCCAGTAGCTGGGATTACTGGCATGAACCACCACACCTGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTACTGGGATTACAGGGTTGAGCCACTGTGCCTGGCCCAGGCCCACGGAGTTTTAAGAGGCTTCCTGTGGCAGTGGCATCCAGACGGAGTGCAGAAACTCAAAGTTGAAGGCCAGAAGCTCAGGGAAGGGGGAGTGTGAGTTGAGGAGTCTCTTGGCTGCCAGGGCCAGAAACCGAACTCCAAGCCTCTCCACAACAGCGGGTGTAGAGCATGTAGAATCAGAGAGGAGGCTGAGCCATGCAGCCCCGAGAAGAGGGGAATGCCACTGAGCCACAGAGACCCAGTGCCACTGCCAGGTGTCTCTGCCTCCACTTCCCATGACCCTGCCTGTCTCTGTATGCAGGCTTCACCCTCTCTCGTTGTACATTGTACACATTCTAGGTGACACCAGCAGCTTCTGATTCTCATCCCCCATAACATCAGCCCCCCAGAGAGGGGACAACTGCTGAGCTGATAACATAATAGATGCCCCTTTCCTGGAGGCCATGGTCATGGTCAGCGTGGAGAGGATGAAGCCTGAGCAGGCAGGATCGGGGGTCTGGAGGGGAAGGAGGTGGAAGTTGAGATCACAGACCTGTGGCCAGGTGGCCTGGGAAGGGTTTGACGAGTGTCGGCCCAAAGAGCTTGGAAGGGATTTTGCTGCTGTGGGTGAGCACTGCCTCTCCCCTTAGGGACAACAGCCACCTCTTCTCTCCCCATTTGCCTTTCCCTTCTGTAGATATGAAACACAGGCCTCCTTGTCAGGCCCCTACTTAACCTCCGTGATGGGGAAAGCGGCCGGAGAAAGGGAGTTCTGGCAGCTTCTCCGAGACCCCAACACCCCACTGTTGCAAGGTGAGTCATGGCCTGACACTCTGGATGTGTCCCCTACCCCAAGCTTACTCAGCCAAGAGGCTTCATCAACTCACCCCAGCTTTCCCTAGCACCCTCCTGGGCCACACCTTCACAAAATCACTGATGCTCAAAGTTGGATATAATATATTGAACTGAAGCCTTAGAATTTTTATGCAAGTTACTGTGGAAATTCTAGGAAACCAGACAGATTACAAAAAAAAAAAAAAACTAGAAGAAAATTAACATCACCTAGGATATACTACCTAGGAATAACGTCTTTTATTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGCGGTATGATCTCGGCTCGCTGCAACCTCCGCCTCCTGGGTTCATGTGATTCTTCCACCTCAGCCTTCCTAGAGCCCAAGTGGTCTGCCTGCCTCTGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAAAATTACTTAACTTTTCTTCTAGATACTTTTTAAAAATATGGCAGTAAGTTTTTCATAAAAAATGGAGCCATGCTATCCAGTGGAAATTTAATGTTGCCCACATGTATAACTTAAAAATTTCATATATGTGTATACATATATATGAAATATATATATATACAGACACACATATATATGTATACATATATATACACACATATATATGTATATATATATACACACATATATATGTATACATATATACACACATACACATATATACACACACATACACACACATATACACACACATACATACACATACATACACACATATATACACACATATATACACACATATATATGTATACATATATATACACACATATATATGTATACATATATACACACACACATATGTATACATATATACACACACATATATATGTATACATATATACACACATATATATGTATACATATATACACACATATATATGTATACATATATACACACACACACACACACATATATATATATATATATATTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCCGGAGTACAATGGCGAGGTCTCAGCTCACTGCAGCCTCTGCCTTCTGAGCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCATGCCCAGTTATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTGCAAACAGACCCTTAAAAGTCATCTGTTCCTACTCTTGTTATTTAAGTTGCTTTGATACTCCACCCCTGAAGAACTTTTATGGGGCACTTACCATGTGTCAAGCATTGTGGCGAGTGCTTATAGAGAAGGTGGGACTTTCTGAGGGAGCCCACAAAAAAGCATTCTTTTCTTGCCCTCATTCTGAATAAATTGAGGAATAAAAAATAGGAGCTACAGATGGAGACCCCAAGTCTGGCCAGTTCTATTACTGATAAAGACAGGAGGGTGAGAGCTAGGTGGACCCAGCCAGGAAGCAGACCTGGGCAGTTGTAGCCTCTATCTCCTTCCCCCTCTGCCCTTGAGTCTAGAAGGAAGCCCGCTCCCAGGAGAAAAATAGCGCCCAGGCTACACATGCCTAGTTTATTCTTCCCAAATCAACCAGTTGCATAAATCACTCCTCTATCTTCCTTGGGGTGGAAAGTGGATGGGAGTTATAATTTGAGTTCTCTTTTGTCTTAGTCCATTGAAGCTGCTATTACAAAATACCATAAACTGGGTGGCTTATAAACAGCAGAAATGAGGCCGGGTGCGGTGGCTCATGCCTATAATTCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGATCAGTAGTTCAAGACTAGCCTGACCAACA
|
GACATTCCTTAGAACAGTAGTTTCCCTTCGCTAAAGTCACCCCAAATAGGGTGGTGGTTGTTGTTGTTGTTTTGAGACGGAGTTGCATTCAGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGATTACAGGGGCCCACCATCACACCTGGCTAGTTTTTGTATTTTTAGTAGAAATAGGGTTTCACCATGTGAGCCAGGCTGGTGTCAAACTCCCAACCTCAGGTGATCCACCCACCTCCGCCTCCTCAAGTGCTGGGATTACAGATGTGACCCACCGCGCCCCACCTGTGTTTCTTAAAACCAAAAAAATCCCTCTAAGACTGCAACCATCGATAACTTAGGGCTGTATTACCCCAGAGAGCACTTTGTAGAAGATGCGTTTGTTCACATCACTTCCCTGTTACTTTGACGGTCTCACCTCCTTTTCAGTCATTTGCATTCTCCCAGAACCTGCTCATTTGTTGTTTTTTGTTTGTTTGCTTGGTTTTGTTTTTGAGAAGCAGTCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGTGCGACCTCAGGTCACTGCAACCTCCGCCTACTAGGTTCAAGTGATTCTCCTGCCTCAGTCTCCTGAATAGCTGGGATTACAGGTGTGCACCACCATGCCCAGCCTAATTTTTGTATTATTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCATGAACTCCTGACCTCAAGTGATCCACCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACAGTGCCTGGCCTGACCCTGCTCTTTTGAAAGACCATTCCCCCAAATTCTGTGCACCTGTGTGCCTTTCTTCTCTCTGCCTCCTCTCAGCTCTGCCCCGCTCTCCTCCCTTCTCCTCTGGCAAATCCCACTCATCTCTTGAAGCCCTTCTTCCAGGGGAAGCCCTGATCATGCTGCTTTCTCCTGTGGGAGGGATGAAGGACGTGGCCCACGGAGTTTGTTTTGTTTTGTTTTGAGATGGAGTTTTGCTCATGTTGCCCAGGCTGGGGTACAATGGTACGATCTCAGCTCACTGCAACCTCTACGTCCCGGGTTCAAGCGGTTCTCCTGCCTTAGCCTCCCCAGTAGCTGGGATTACTGGCATGAACCACCACACCTGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTACTGGGATTACAGGGTTGAGCCACTGTGCCTGGCCCAGGCCCACGGAGTTTTAAGAGGCTTCCTGTGGCAGTGGCATCCAGACGGAGTGCAGAAACTCAAAGTTGAAGGCCAGAAGCTCAGGGAAGGGGGAGTGTGAGTTGAGGAGTCTCTTGGCTGCCAGGGCCAGAAACCGAACTCCAAGCCTCTCCACAACAGCGGGTGTAGAGCATGTAGAATCAGAGAGGAGGCTGAGCCATGCAGCCCCGAGAAGAGGGGAATGCCACTGAGCCACAGAGACCCAGTGCCACTGCCAGGTGTCTCTGCCTCCACTTCCCATGACCCTGCCTGTCTCTGTATGCAGGCTTCACCCTCTCTCGTTGTACATTGTACACATTCTAGGTGACACCAGCAGCTTCTGATTCTCATCCCCCATAACATCAGCCCCCCAGAGAGGGGACAACTGCTGAGCTGATAACATAATAGATGCCCCTTTCCTGGAGGCCATGGTCATGGTCAGCGTGGAGAGGATGAAGCCTGAGCAGGCAGGATCGGGGGTCTGGAGGGGAAGGAGGTGGAAGTTGAGATCACAGACCTGTGGCCAGGTGGCCTGGGAAGGGTTTGACGAGTGTCGGCCCAAAGAGCTTGGAAGGGATTTTGCTGCTGTGGGTGAGCACTGCCTCTCCCCTTAGGGACAACAGCCACCTCTTCTCTCCCCATTTGCCTTTCCCTTCTGTAGATATGAAACACAGGCCTCCTTTGTCAGGCCCCTACTTAACCTCCGTGATGGGGAAAGCGGCCGGAGAAAGGGAGTTCTGGCAGCTTCTCCGAGACCCCAACACCCCACTGTTGCAAGGTGAGTCATGGCCTGACACTCTGGATGTGTCCCCTACCCCAAGCTTACTCAGCCAAGAGGCTTCATCAACTCACCCCAGCTTTCCCTAGCACCCTCCTGGGCCACACCTTCACAAAATCACTGATGCTCAAAGTTGGATATAATATATTGAACTGAAGCCTTAGAATTTTTATGCAAGTTACTGTGGAAATTCTAGGAAACCAGACAGATTACAAAAAAAAAAAAAAACTAGAAGAAAATTAACATCACCTAGGATATACTACCTAGGAATAACGTCTTTTATTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGCGGTATGATCTCGGCTCGCTGCAACCTCCGCCTCCTGGGTTCATGTGATTCTTCCACCTCAGCCTTCCTAGAGCCCAAGTGGTCTGCCTGCCTCTGCCTCCCAAAGTTCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAAAATTACTTAACTTTTCTTCTAGATACTTTTTAAAAATATGGCAGTAAGTTTTTCATAAAAAATGGAGCCATGCTATCCAGTGGAAATTTAATGTTGCCCACATGTATAACTTAAAAATTTCATATATGTGTATACATATATATGAAATATATATATATACAGACACACATATATATGTATACATATATATACACACATATATATGTATATATATATACACACATATATATGTATACATATATACACACATACACATATATACACACACATACACACACATATACACACACATACATACACATACATACACACATATATACACACATATATACACACATATATATGTATACATATATATACACACATATATATGTATACATATATACACACACACATATGTATACATATATACACACACATATATATGTATACATATATACACACATATATATGTATACATATATACACACATATATATGTATACATATATACACACACACACACACACATATATATATATATATATATTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCCGGAGTACAATGGCGAGGTCTCAGCTCACTGCAGCCTCTGCCTTCTGAGCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCATGCCCAGTTATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTGCAAACAGACCCTTAAAAGTCATCTGTTCCTACTCTTGTTATTTAAGTTGCTTTGATACTCCACCCCTGAAGAACTTTTATGGGGCACTTACCATGTGTCAAGCATTGTGGCGAGTGCTTATAGAGAAGGTGGGACTTTCTGAGGGAGCCCACAAAAAAGCATTCTTTTCTTGCCCTCATTCTGAATAAATTGAGGAATAAAAAATAGGAGCTACAGATGGAGACCCCAAGTCTGGCCAGTTCTATTACTGATAAAGACAGGAGGGTGAGAGCTAGGTGGACCCAGCCAGGAAGCAGACCTGGGCAGTTGTAGCCTCTATCTCCTTCCCCCTCTGCCCTTGAGTCTAGAAGGAAGCCCGCTCCCAGGAGAAAAATAGCGCCCAGGCTACACATGCCTAGTTTATTCTTCCCAAATCAACCAGTTGCATAAATCACTCCTCTATCTTCCTTGGGGTGGAAAGTGGATGGGAGTTATAATTTGAGTTCTCTTTTGTCTTAGTCCATTGAAGCTGCTATTACAAAATACCATAAACTGGGTGGCTTATAAACAGCAGAAATGAGGCCGGGTGCGGTGGCTCATGCCTATAATTCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGATCAGTAGTTCAAGACTAGCCTGACCAAC
|
pathogenic
| 325,646 |
Variant at chromosome 22, position 30932538, gene MORC2 (MORC family CW-type zinc finger 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
benign
|
AGCAAGTCCTAAGAAGTACATGGGTTCAAATCTGGTCTCTGTCACTGACCAACAGACTCTTTACCTTTCTGAGCCTTAGTTTCTTCAACTCCTGCTTCATTTCACATTTTAAAAAGTAGAATAAAGACAAACTCCATGTTTTTATCTCTGGCAAACTTTATCAAGCACACAACTGCCCCACGAGGACCCGACATCTTGAATATACTAATCCTGCAGTTTCCATTCCCATTGTCTTTTCTCTAGAACCTCTTTCCTAGAAAACTTAGCTATTCCTATAATAGAAAAATCATCCCACTTCATGTGGACAATTCCCAGAGCCCCATCTCCAGCCCTGGCCTCCCCCTCCCTCCAAGTGCCAGTCCTTGATCTCCACGTGCACAATGCACATCACCAGAAACGTAGTGAGGGCACTTCTGGTGCCACATAAACCTCCACTCGTCACCTTCATTGCACTCACCCATTTTTCTCTCCTAGTTAATAGCTTTGTCATCAACCTCCAATTCCCACAGACCTGAGTCACTTGCCTACAATCCATGATCAGTCTCCTGACGACCTCTGACACAGCCCTTTCACCCCCAAGCCCACTGCCACCACGCTGACTCCTGTTCCCATTCCCTCACCTCTGACCTTTTACATAGGACCTGCCTCCTCGCCCCTGCATCTCCCATCCACCCATTCTACCCAAACACGCTGCTACCCAAATCACCCTCTTAGGGGAAGGGGCAGCAGATTACAGCCCCTGGGCCGAATCAGCCTGCCAAGTGTTTTTGTAAATAAAGCTTTGTGGGAACACAGCACATCCATTCCTTTACATACTGTCTGTGGTTGCTTTCGTGCTATAATGGCAGAGTTGCCACAGAGACTGTATAGCCTGTGAACCTGAAATTACTTGCCAACTGGCCCTCTACAGAAAAAAATGTGTGGACCTCTGCCCTAGACATGGTTTGGATGACAGTTCCTTCAGCTCAAAACTTTTGCAGGCTGTCCTCTTCATACAGAGTTTAAGCCAGTATGACTTACACTGGGGATTCAAGACACATCAGATCCTGACTTTCAGGCCCCTTGACCCTAAATGCTCACCACACAGCCTGTTGCCTGGACCCCACTCCCAGAGCCTTTGCTCACAGAAGCCCCCACCTCAAACACTCCTTTTCACTTACACAGGCAGGCACTTGGCAAAATGCACATTTTCTTCCAACTCAGTTGCTCTCTCTGCCCCCCAGGCCACCACAGCCCTCCATAGCCTTTCTATCCACTTTCTCAGCACTCGCTGCTCCTGCCCCCATGTCCAGCTACCCGGTAACAACTCAGTCTCTACTGAATCTTGAGCCTCTTGAAGGCAAGACTCTCTTTTGCTGCTCACTATGAGGTCCAGCAGACACCTGCTTGGGCAAGGCACCCCTTCAGCATTTGCTGGGTTAAGTAAGATCCAATGCTTATGTCCACACATCACAAGTTTCTCTATACCTCCTTCTGAGAGTCAAGTTCTATGCACTTCGAGCCTCAGCTCTTCACTGTTGCCTGGGACAGGTTTACTCCCTCTACTGGGGCAGAAGAAAGTGGGTATGCTTGTCATAAAATGTCAAACTACACCTGCTATCCCTAAGGGATGACTCAACTCCTAGCACCTGTGGTGGGAAGGGGTTGGCTTTCTGCACACCAGAGTCATATCCAGCTAAGCCAATTTTTTTCCCACATCATAAACTCTCCTCTTCTTTCAGCAGGAGAGAGGCTGGCTGAGATGGAGCACACAGCTGAGAGCTAGCAACTGCAACAAGCGTAACAATCATAATCACAACAGTTACAACAAATGCAGGGGCAGGGGTGGGGGAATGAAGAGTGTGGAATCGAAGGTCAGGCCAGACTCACCAGAGGAAAAGATATTAGCTCATCTGAATTCATAGCACTCAGCTGCTTCTTGGAGATGGGGAAACTTGGAGGCAGGAAGTACCGTAAACAATTCCTAAAGAAGGCAGGGACAGTAATTCAGAATGGCATGGAGCAGGCAGAGAGCTGCTGCTGGCCCTGGGGTGGGAAGACAAAAGACACATGTACCGGAGGATCTGGACAAGCAGGTCGATGGTCTCGTGATTGGTGCTCAGGGCAGTGGTGTCAGGCTCAATGCGGAGGCATTCGGAAGTGGAGGGCTCTGCGACAGCTATGGCCTGCTGGGCCACAGGGCCCACCTCCTCCTCCCCGCCCTCCTGTTGTGTATCAAGGCTCTGATGTTCCGGAGAAGGGGGTTTCATCAGCCGCACATCCTCACTGCCTTTCTCCACCCTGTGGAAGACACACAGCTTATGTCATGTCTGACCCGGGCTCCCAGGATGGGCTGCTGGCAGGGAGGCCGGGGATACCTCCTTCGAGGAACCACTGCTCCTCCCTGATTGGGGCATTACCAGCGGTCTCTTGGTGTCGTGTCTGTGGGCACGTAGTCAAACTTCACCTTCCACCGCACCACATGCTTGCCCACCTCCACGGCTGTGACACGGCCCGTGTACCACTCCCTGTTCACACGCACCTCCACGTGCAGCCCTTTATCTGACAATGTAGACAGAGGTGCGAGTCAGAAAACTAGCGTAGAGTCCCTCACTTGGCCTGGGCCACATCGAGAAAGGCAGTCCCCAGGGTTTGGAGGACAGGAACACTTAGGTGCTTGCCCCCACTACACCAGGGACACAGAGACCAGGGACCAGCCACCATGGTCTCCTTCCCCATCTGCTATGAGGGTGCCAAAAAGCAGGAGAACAAGTGACCGCCAGGAGTGAACACCAAGGAATTAGTGTTAAAAATAACCACAAAGGGGTGATCCCTTCAGAATTCTGCTTGGGATTAGACTTGGATCCACTGCTGCACAAGAGCCCAGACCCAGGACAGATTCAATGAGCCTTTGGTAAATTGCTGCTGGTAAGGGGCTCCACTTCCACTCCCACTCCCACCCCCGCCACAGGCTGCCAAGTCACTCCCCCAGCTCACCTTTCTGAGCTCTCTTGAGGTCAGCCGAGTCCTCTTCCCCAGCACTGTCTGAGAGCTGCGTGGAGAGCAGTCTATTAGAGGCATCCCCAGTGCCCCCCAAGAGCAGACTTGTGCCTTACTGGCCACCCGGGGTCATCAGCCATCATCTTCACGACTTCCTGTGCTACAGTTTAAATCACCAAGCCCCGTTGAGAGCCACACTCCAAAATCACTGTCCAAGGTACCTACCCTTCTGCTACCTTTACGAACAAGACAGCAGGCAAGGGACATGTGTTTCAAGCCTCACTGATGTACGTCTGTGTGACTTCAGGCCTGTGGTTAAGCCAGAAGCCAGTCTCACTCAAGACCCTACCTGGCACCATGTTTAGTCACTTGTGTAACTGAGAGTCCTTGAGAGATCACTAGGCTTCTGGAAGGCTCATGACACGAATATAAACAGAGTTGGTGCAGACTGCTGGTGGGGGGGGTAGACTGCTGGTGGGTTGTGTAGACTGCTGGTGGATGGTATAGACTGCTGATGGGGGGTGCAGACTGCTGGTGGGGGCTGCAGGCCCTAGAGAGAGAGGCTTTGAGAACCTCACCTCAACCACTCACCTCATTCGAGTCCTTCTTTTCCTCCTTCACAACAAATCTGCCCCGCTTGCACCTCTCCTTCCTCCTCTCAGCTTCCTCCTCAACTTCTTCCTCATCAGAAACTGCGACACTCCGCTTCCGACTAGGGGTAGCCTAGAGCAAGAGGAGCGTGAGGATGTGAGGGGCCCTGTTCAGCCTCTAAGGAGCAGGAAGATTTCATCTAGCCTAAAGGAGTCGTTCCAAGAGGAGCTGTACTCCCTGCAATCCCTGCCTGACATTACTTGGAATGTACACAGGCAACCCACTGGCCCCTGCGCCATAAGGATTTTTGCTCAAAGCTATCATAGGAGAAGCTTCTCAATTCCCTTCCCACCTTAGTCTACCTGGCCAACTAGCTGTCACCTCCCCAAGAACCACCGACCACTGCCGCAGCCCACTCAGGCTATCTGTCACCAGATGACTGACCTAAGCCCACACTTCGAGAGCCAGTGGAGGTGACTCAAGTTTGTGGCAGACCAAAACTCGGAGGCAACAGTGAAGAGCTCGC
|
AGCAAGTCCTAAGAAGTACATGGGTTCAAATCTGGTCTCTGTCACTGACCAACAGACTCTTTACCTTTCTGAGCCTTAGTTTCTTCAACTCCTGCTTCATTTCACATTTTAAAAAGTAGAATAAAGACAAACTCCATGTTTTTATCTCTGGCAAACTTTATCAAGCACACAACTGCCCCACGAGGACCCGACATCTTGAATATACTAATCCTGCAGTTTCCATTCCCATTGTCTTTTCTCTAGAACCTCTTTCCTAGAAAACTTAGCTATTCCTATAATAGAAAAATCATCCCACTTCATGTGGACAATTCCCAGAGCCCCATCTCCAGCCCTGGCCTCCCCCTCCCTCCAAGTGCCAGTCCTTGATCTCCACGTGCACAATGCACATCACCAGAAACGTAGTGAGGGCACTTCTGGTGCCACATAAACCTCCACTCGTCACCTTCATTGCACTCACCCATTTTTCTCTCCTAGTTAATAGCTTTGTCATCAACCTCCAATTCCCACAGACCTGAGTCACTTGCCTACAATCCATGATCAGTCTCCTGACGACCTCTGACACAGCCCTTTCACCCCCAAGCCCACTGCCACCACGCTGACTCCTGTTCCCATTCCCTCACCTCTGACCTTTTACATAGGACCTGCCTCCTCGCCCCTGCATCTCCCATCCACCCATTCTACCCAAACACGCTGCTACCCAAATCACCCTCTTAGGGGAAGGGGCAGCAGATTACAGCCCCTGGGCCGAATCAGCCTGCCAAGTGTTTTTGTAAATAAAGCTTTGTGGGAACACAGCACATCCATTCCTTTACATACTGTCTGTGGTTGCTTTCGTGCTATAATGGCAGAGTTGCCACAGAGACTGTATAGCCTGTGAACCTGAAATTACTTGCCAACTGGCCCTCTACAGAAAAAAATGTGTGGACCTCTGCCCTAGACATGGTTTGGATGACAGTTCCTTCAGCTCAAAACTTTTGCAGGCTGTCCTCTTCATACAGAGTTTAAGCCAGTATGACTTACACTGGGGATTCAAGACACATCAGATCCTGACTTTCAGGCCCCTTGACCCTAAATGCTCACCACACAGCCTGTTGCCTGGACCCCACTCCCAGAGCCTTTGCTCACAGAAGCCCCCACCTCAAACACTCCTTTTCACTTACACAGGCAGGCACTTGGCAAAATGCACATTTTCTTCCAACTCAGTTGCTCTCTCTGCCCCCCAGGCCACCACAGCCCTCCATAGCCTTTCTATCCACTTTCTCAGCACTCGCTGCTCCTGCCCCCATGTCCAGCTACCCGGTAACAACTCAGTCTCTACTGAATCTTGAGCCTCTTGAAGGCAAGACTCTCTTTTGCTGCTCACTATGAGGTCCAGCAGACACCTGCTTGGGCAAGGCACCCCTTCAGCATTTGCTGGGTTAAGTAAGATCCAATGCTTATGTCCACACATCACAAGTTTCTCTATACCTCCTTCTGAGAGTCAAGTTCTATGCACTTCGAGCCTCAGCTCTTCACTGTTGCCTGGGACAGGTTTACTCCCTCTACTGGGGCAGAAGAAAGTGGGTATGCTTGTCATAAAATGTCAAACTACACCTGCTATCCCTAAGGGATGACTCAACTCCTAGCACCTGTGGTGGGAAGGGGTTGGCTTTCTGCACACCAGAGTCATATCCAGCTAAGCCAATTTTTTTCCCACATCATAAACTCTCCTCTTCTTTCAGCAGGAGAGAGGCTGGCTGAGATGGAGCACACAGCTGAGAGCTAGCAACTGCAACAAGCGTAACAATCATAATCACAACAGTTACAACAAATGCAGGGGCAGGGGTGGGGGAATGAAGAGTGTGGAATCGAAGGTCAGGCCAGACTCACCAGAGGAAAAGATATTAGCTCATCTGAATTCATAGCACTCAGCTGCTTCTTGGAGATGGGGAAACTTGGAGGCAGGAAGTACCGTAAACAATTCCTAAAGAAGGCAGGGACAGTAATTCAGAATGGCATGGAGCAGGCAGAGAGCTGCTGCTGGCCCTGGGGTGGGAAGACAAAAGACACGTACCGGAGGATCTGGACAAGCAGGTCGATGGTCTCGTGATTGGTGCTCAGGGCAGTGGTGTCAGGCTCAATGCGGAGGCATTCGGAAGTGGAGGGCTCTGCGACAGCTATGGCCTGCTGGGCCACAGGGCCCACCTCCTCCTCCCCGCCCTCCTGTTGTGTATCAAGGCTCTGATGTTCCGGAGAAGGGGGTTTCATCAGCCGCACATCCTCACTGCCTTTCTCCACCCTGTGGAAGACACACAGCTTATGTCATGTCTGACCCGGGCTCCCAGGATGGGCTGCTGGCAGGGAGGCCGGGGATACCTCCTTCGAGGAACCACTGCTCCTCCCTGATTGGGGCATTACCAGCGGTCTCTTGGTGTCGTGTCTGTGGGCACGTAGTCAAACTTCACCTTCCACCGCACCACATGCTTGCCCACCTCCACGGCTGTGACACGGCCCGTGTACCACTCCCTGTTCACACGCACCTCCACGTGCAGCCCTTTATCTGACAATGTAGACAGAGGTGCGAGTCAGAAAACTAGCGTAGAGTCCCTCACTTGGCCTGGGCCACATCGAGAAAGGCAGTCCCCAGGGTTTGGAGGACAGGAACACTTAGGTGCTTGCCCCCACTACACCAGGGACACAGAGACCAGGGACCAGCCACCATGGTCTCCTTCCCCATCTGCTATGAGGGTGCCAAAAAGCAGGAGAACAAGTGACCGCCAGGAGTGAACACCAAGGAATTAGTGTTAAAAATAACCACAAAGGGGTGATCCCTTCAGAATTCTGCTTGGGATTAGACTTGGATCCACTGCTGCACAAGAGCCCAGACCCAGGACAGATTCAATGAGCCTTTGGTAAATTGCTGCTGGTAAGGGGCTCCACTTCCACTCCCACTCCCACCCCCGCCACAGGCTGCCAAGTCACTCCCCCAGCTCACCTTTCTGAGCTCTCTTGAGGTCAGCCGAGTCCTCTTCCCCAGCACTGTCTGAGAGCTGCGTGGAGAGCAGTCTATTAGAGGCATCCCCAGTGCCCCCCAAGAGCAGACTTGTGCCTTACTGGCCACCCGGGGTCATCAGCCATCATCTTCACGACTTCCTGTGCTACAGTTTAAATCACCAAGCCCCGTTGAGAGCCACACTCCAAAATCACTGTCCAAGGTACCTACCCTTCTGCTACCTTTACGAACAAGACAGCAGGCAAGGGACATGTGTTTCAAGCCTCACTGATGTACGTCTGTGTGACTTCAGGCCTGTGGTTAAGCCAGAAGCCAGTCTCACTCAAGACCCTACCTGGCACCATGTTTAGTCACTTGTGTAACTGAGAGTCCTTGAGAGATCACTAGGCTTCTGGAAGGCTCATGACACGAATATAAACAGAGTTGGTGCAGACTGCTGGTGGGGGGGGTAGACTGCTGGTGGGTTGTGTAGACTGCTGGTGGATGGTATAGACTGCTGATGGGGGGTGCAGACTGCTGGTGGGGGCTGCAGGCCCTAGAGAGAGAGGCTTTGAGAACCTCACCTCAACCACTCACCTCATTCGAGTCCTTCTTTTCCTCCTTCACAACAAATCTGCCCCGCTTGCACCTCTCCTTCCTCCTCTCAGCTTCCTCCTCAACTTCTTCCTCATCAGAAACTGCGACACTCCGCTTCCGACTAGGGGTAGCCTAGAGCAAGAGGAGCGTGAGGATGTGAGGGGCCCTGTTCAGCCTCTAAGGAGCAGGAAGATTTCATCTAGCCTAAAGGAGTCGTTCCAAGAGGAGCTGTACTCCCTGCAATCCCTGCCTGACATTACTTGGAATGTACACAGGCAACCCACTGGCCCCTGCGCCATAAGGATTTTTGCTCAAAGCTATCATAGGAGAAGCTTCTCAATTCCCTTCCCACCTTAGTCTACCTGGCCAACTAGCTGTCACCTCCCCAAGAACCACCGACCACTGCCGCAGCCCACTCAGGCTATCTGTCACCAGATGACTGACCTAAGCCCACACTTCGAGAGCCAGTGGAGGTGACTCAAGTTTGTGGCAGACCAAAACTCGGAGGCAACAGTGAAGAGCTCGCNN
|
benign
| 325,676 |
Variant in gene MORC2 (MORC family CW-type zinc finger 2), located at chromosome 22 position 30950456: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
benign
|
AAACACATTCCTAGCCCCTACCCAGATCCACTGAATCAGGCCAGCAATCTGCCATGGAAACATCAAAGGAGGAGAAATAAAGGCAGAAACCAGGCTCTCACAGCAATGATAGCATGTAATTCTTAACCTACTTGGTATGCATTATCATCTCAATTTACAAAGGAGGAAGCTGAGGCTTAGAGACGTAGTAGCGGAAGTGAGATTTGAACCTTAGCTTGTCATTTAAGTGAAATGCACAGCAGCTCCATTTTGCAGTCAGAAAGACCTGGTTCCTACCCTAGCGCTCTACACATAGGCATTTTTAATGCCTTTGGGAAAGTAACTTCACCCTTATAAACCTCAATTTCTTCATCTGAAAATAATAGTACCTACAACCTCACAGGGCTATCATGAGGATTAAATGAGATTATTCGTGTGCCTGGCACATGGTAAGTGTCTGTTATTACCATTTGGTTCCTGCCCTGAAAGACAAATCACAAAGTCCGGATACCAGGTCCTGATTTCTTCGGAAGTACTCTCTTTCTTCTCCATACACCCAAAGCACAACTGCACACAAGGCCCAACTGATGCTGCTGACTGATCAAACCACCACCCTCCCTCAAACAAAACAACACATTTCCACGACAAGACTGGAAACGTGACTCACAATTCCATTTGCACAAACTCCAATTCCACTAAATCTTATTCCATCCAAAGGTATGTACAGCTGGAAGTGAGCATTTCAGAAATAGAAACCTTTCTCTTGGGGCTTCACTCAAAACCAGAACAACACATTCCAAACACTAACCAACTGGGAACTAAGGCTAAGAAAAAGTCCCATGGGATTTGAAGACATTAGGTAGGTCCCTGCTATAAGGGCCTTGCAGTACATTCAGCATCCTCTGGGACGGAGGGCTCACATCTCTCTTCCTTACCCTGGATCCCCAGTGCCTGGCACAAAGCATGACATGCAGCAGGTGCTCAGGGAACACTGCTGCACAGTAAGGTGACCCCTTCATCATCTCAGATACATCCCAACACCACAAGAGAATCACTCACATCCTTGACTACAGGGTAAAAATAAGAATTTTCAACAGGAGAGGTGCAGTTCTAGAGCACTGTGCCAAGAGAAACGTACAGCCTCTCCTGCCCTGTTTTTGGATGTTCATACTTTTCAATCTGTGGAGTAAATTCAGCTGGGAACAGCTGGTAAGCTACTCCAGAAACCACCACTTTCTGACTTCTTCCAGTTCCAGAATTATAGTCAATAGAGGGACAAGGAGAAGGAAAGTTTTCATCCAAGAGAAGCAGGACAGCATTGCTGGATTTTGTTTGAGCCCTGTGACAAGCTTCTAATATACCTACGATTTTAACCCATTCCCGTACTGCCCAATCTGAGTAGACTCAGGTGTTCGCTTGGCCGACTTCCCAAACTGGATCACACTGGCAGCATCACCTGAAAGGGCAGACACAAGAGAAAGTGAAAAGTTTGCATTTCTTTCCCAGGGTCCTCAAAGTCAAAGGTCTGAGCCTTGTTAAATCCAAGCAGGGGTGTGTATCTGCTGAAAACCTCTCTCCAAGGAAATTCACCACCATGAAGCACATGGAGGCACAGCTTTGCCTGGCCTGTTGGTACCTCTATCACTGTGACCTATGTTCTATTCCCAGAATGTGGTAAGACAGCTAGCAGAGGCATCTGTAGGTCCAGCTCGAGAATGTTGTGCAAGCTGATAAATACAACGCCAAGAGACAGGTAATCTGATTGACTTAAGATTGCCTTTCAGATCCTATCTCCCATGTTAGGACAAGACCTGGCAAATACATTAGTAGAATTAAGCCTGAGATGTTGCAACAGACTTCTTACTCCCCAGGTGGATCTTCTAGACATAACATTGGAGGCAACAGAAAAACAAGTTCACACAATAAGTATTTTGTAAAAATGGTTACATCGCACCCCCCCACCCCCCAAAACAATAATCTCATCACTTACTTGGATCCATTCCTGCTCCATCATCCAAAAAGCAAAGCATAAATCCTCCTCGAAGGTCCTCTCGTCTTTCTGTAAAAGAAGCAGCTGCCATTACTGGGCCGTTACCCACCACAGGGTGGCAACATGCCTATGATCAGAAGGCAGATCAATGTGAAGCTTGGTCCAAAAAGGTCAGGTCAAGCCTAAACTTTCTACGCTGGTGTGAATTAAACTTCAGGGTCCTTGAGGTTGCAAATTCCCATCCAAGGTTCTCCAATGTTTTCTAGATCATGACAAAGCTTGGGAGAACCTTTGAAGGCAGGAATATCTGGTCCAGCATCTAATCATACCCACTACCACTGAATATGCACATACCTCACACATATCTCAATCATCCTATCCTTCTGCTCACTCCACCTGGATTACTATCACTTCTGCCCTATGCCATAGACCCCAAGCACTAAAGTACTCCAACTACCACACACTGTACTTTATCAATACTGCTCAAACTCAACAGGATGCCTCCTTTGTGAATTAAGTCTGGGGTATCCTTCAAAGTGATGAAACCAGACATGGTATGGGCACAGCAGTGGAAGCTGCTATCTAAAAGATGAAGTACTGTGTCTATACATGACCATCCCTAGGCTGACTGGCATTCTGGGCTATCTGCATTTACTGTCATATCCCCTGCTAGCTATGGTCCTTGAAAGGGCTCCCCATCCCAACAGTGAGAAGGCACATGGTACAACGTGGAGGTGCCTTGTTCCTAGCTGGACCTGCCTGATGGGAAGAAGGAATGGTCCTTTGACAATAAGATGCACAGCAGCTGTGGTGGGGTTTCCTGGCCAACAGAAAAGGAACACAACAAACTACGGCTGCCATTCTAGTGAAAAGAACGTCTTCTCTCAGCAGTTGTCTTCTGCAGCAGAAAGTGGTTAACTGAAAGTGGTCTGGGTCCAAGCATGTCATGGTCAATGGAGAAGCGATTCCCAAATATGGAAACAGGCTATACTAGCTTCCAAGGTGCCTTTTGACCCAATGATGAGGACTAGGTGAGCAAAAGAGAAACCAGCCTTGGAATCAAGGAAGTTGGTAGACACAAAGAAGAGAAGGATGTAAGGCAGAGGTATAGGGAGGAGACCCACACAAGCCAAGCAAGCCAACTTCCCATATAGATGCTATTCAGTCTACTGACTGGCACAGGGATAAAGGTAGCATTTCTAAGAGGAAAGAGGTCTGTGTAAGGTATTACAAGGGCAAGCCCAAGGCTGCTCTGCAGCCTGGTCCCTGATGATTTCGGAATCTCCCCCAAGCTTCAGTTAACCAATTTTGTACAACTATCTAAGCTGAGAAATCTGTTTTAAATGCTCTTTGTCCTTTCTTCAGGCTAAAAATTCAAGTGAGTAGGGACTGCCCTCTGTCAAATAGACTTATTAATGTAAATTAAAATGCTATTTTTTTTTTTTTTGAAATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAACGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTTCTGTAAGGCTATAAACCACAGAGATTTTCAAGTACCACTCAGTGTTCAGGAAGCTGAACATTAATTACAAGTGCTTCTTGAAAGTACAAGGGTGAGGATCTTCCTGGAAGTACTATTGGTTAGATAAAATCTCTCCTGGTGGCAGTGCCTCTAATCAGAGTCTGGGGAATCCAAATGAGACGTGGCAATCAAGAATAAGTACAATAAAAGTCCAAAAAGGCTTCAAAATTTCCATCTGGAGGAAGCCAAGTGTCATAAGGAGACTCAAACTGGGTCAGGTACAGAGAATGGTAAAAGCAGCATTCTAAACCTAGCCAAGAGCCATTTGCTGTACACTACAGCCGCAAAATGTGCATGAAGACTCTGCTTTGGGATCTAGAAATTGATTCAAGCCAAGCACCTCTGAAAAGTCCCCAAGGACTACTGGCATTCTTTGGACACTGCCTAAGAAGTTACTTTCTAGGCTCTTGTGTTAGGATAGAACTCTTAGGCTGCTTTAGCACACAATCATCACTTAACAGTGGGGCTGGTATCCTTTTCTGGCTCAAGGACTTCATTTCAAAG
|
AAACACATTCCTAGCCCCTACCCAGATCCACTGAATCAGGCCAGCAATCTGCCATGGAAACATCAAAGGAGGAGAAATAAAGGCAGAAACCAGGCTCTCACAGCAATGATAGCATGTAATTCTTAACCTACTTGGTATGCATTATCATCTCAATTTACAAAGGAGGAAGCTGAGGCTTAGAGACGTAGTAGCGGAAGTGAGATTTGAACCTTAGCTTGTCATTTAAGTGAAATGCACAGCAGCTCCATTTTGCAGTCAGAAAGACCTGGTTCCTACCCTAGCGCTCTACACATAGGCATTTTTAATGCCTTTGGGAAAGTAACTTCACCCTTATAAACCTCAATTTCTTCATCTGAAAATAATAGTACCTACAACCTCACAGGGCTATCATGAGGATTAAATGAGATTATTCGTGTGCCTGGCACATGGTAAGTGTCTGTTATTACCATTTGGTTCCTGCCCTGAAAGACAAATCACAAAGTCCGGATACCAGGTCCTGATTTCTTCGGAAGTACTCTCTTTCTTCTCCATACACCCAAAGCACAACTGCACACAAGGCCCAACTGATGCTGCTGACTGATCAAACCACCACCCTCCCTCAAACAAAACAACACATTTCCACGACAAGACTGGAAACGTGACTCACAATTCCATTTGCACAAACTCCAATTCCACTAAATCTTATTCCATCCAAAGGTATGTACAGCTGGAAGTGAGCATTTCAGAAATAGAAACCTTTCTCTTGGGGCTTCACTCAAAACCAGAACAACACATTCCAAACACTAACCAACTGGGAACTAAGGCTAAGAAAAAGTCCCATGGGATTTGAAGACATTAGGTAGGTCCCTGCTATAAGGGCCTTGCAGTACATTCAGCATCCTCTGGGACGGAGGGCTCACATCTCTCTTCCTTACCCTGGATCCCCAGTGCCTGGCACAAAGCATGACATGCAGCAGGTGCTCAGGGAACACTGCTGCACAGTAAGGTGACCCCTTCATCATCTCAGATACATCCCAACACCACAAGAGAATCACTCACATCCTTGACTACAGGGTAAAAATAAGAATTTTCAACAGGAGAGGTGCAGTTCTAGAGCACTGTGCCAAGAGAAACGTACAGCCTCTCCTGCCCTGTTTTTGGATGTTCATACTTTTCAATCTGTGGAGTAAATTCAGCTGGGAACAGCTGGTAAGCTACTCCAGAAACCACCACTTTCTGACTTCTTCCAGTTCCAGAATTATAGTCAATAGAGGGACAAGGAGAAGGAAAGTTTTCATCCAAGAGAAGCAGGACAGCATTGCTGGATTTTGTTTGAGCCCTGTGACAAGCTTCTAATATACCTACGATTTTAACCCATTCCCGTACTGCCCAATCTGAGTAGACTCAGGTGTTCGCTTGGCCGACTTCCCAAACTGGATCACACTGGCAGCATCACCTGAAAGGGCAGACACAAGAGAAAGTGAAAAGTTTGCATTTCTTTCCCAGGGTCCTCAAAGTCAAAGGTCTGAGCCTTGTTAAATCCAAGCAGGGGTGTGTATCTGCTGAAAACCTCTCTCCAAGGAAATTCACCACCATGAAGCACATGGAGGCACAGCTTTGCCTGGCCTGTTGGTACCTCTATCACTGTGACCTATGTTCTATTCCCAGAATGTGGTAAGACAGCTAGCAGAGGCATCTGTAGGTCCAGCTCGAGAATGTTGTGCAAGCTGATAAATACAACGCCAAGAGACAGGTAATCTGATTGACTTAAGATTGCCTTTCAGATCCTATCTCCCATGTTAGGACAAGACCTGGCAAATACATTAGTAGAATTAAGCCTGAGATGTTGCAACAGACTTCTTACTCCCCAGGTGGATCTTCTAGACATAACATTGGAGGCAACAGAAAAACAAGTTCACACAATAAGTATTTTGTAAAAATGGTTACATCGCACCCCCCCACCCCCCAAAACAATAATCTCATCACTTACTTGGATCCATTCCTGCTCCATCATCCAAAAAGCAAAGCATAAATCCTCCTCGAAGGTCCTCTCGTCTTTCTGTAAAAGAACAGCTGCCATTACTGGGCCGTTACCCACCACAGGGTGGCAACATGCCTATGATCAGAAGGCAGATCAATGTGAAGCTTGGTCCAAAAAGGTCAGGTCAAGCCTAAACTTTCTACGCTGGTGTGAATTAAACTTCAGGGTCCTTGAGGTTGCAAATTCCCATCCAAGGTTCTCCAATGTTTTCTAGATCATGACAAAGCTTGGGAGAACCTTTGAAGGCAGGAATATCTGGTCCAGCATCTAATCATACCCACTACCACTGAATATGCACATACCTCACACATATCTCAATCATCCTATCCTTCTGCTCACTCCACCTGGATTACTATCACTTCTGCCCTATGCCATAGACCCCAAGCACTAAAGTACTCCAACTACCACACACTGTACTTTATCAATACTGCTCAAACTCAACAGGATGCCTCCTTTGTGAATTAAGTCTGGGGTATCCTTCAAAGTGATGAAACCAGACATGGTATGGGCACAGCAGTGGAAGCTGCTATCTAAAAGATGAAGTACTGTGTCTATACATGACCATCCCTAGGCTGACTGGCATTCTGGGCTATCTGCATTTACTGTCATATCCCCTGCTAGCTATGGTCCTTGAAAGGGCTCCCCATCCCAACAGTGAGAAGGCACATGGTACAACGTGGAGGTGCCTTGTTCCTAGCTGGACCTGCCTGATGGGAAGAAGGAATGGTCCTTTGACAATAAGATGCACAGCAGCTGTGGTGGGGTTTCCTGGCCAACAGAAAAGGAACACAACAAACTACGGCTGCCATTCTAGTGAAAAGAACGTCTTCTCTCAGCAGTTGTCTTCTGCAGCAGAAAGTGGTTAACTGAAAGTGGTCTGGGTCCAAGCATGTCATGGTCAATGGAGAAGCGATTCCCAAATATGGAAACAGGCTATACTAGCTTCCAAGGTGCCTTTTGACCCAATGATGAGGACTAGGTGAGCAAAAGAGAAACCAGCCTTGGAATCAAGGAAGTTGGTAGACACAAAGAAGAGAAGGATGTAAGGCAGAGGTATAGGGAGGAGACCCACACAAGCCAAGCAAGCCAACTTCCCATATAGATGCTATTCAGTCTACTGACTGGCACAGGGATAAAGGTAGCATTTCTAAGAGGAAAGAGGTCTGTGTAAGGTATTACAAGGGCAAGCCCAAGGCTGCTCTGCAGCCTGGTCCCTGATGATTTCGGAATCTCCCCCAAGCTTCAGTTAACCAATTTTGTACAACTATCTAAGCTGAGAAATCTGTTTTAAATGCTCTTTGTCCTTTCTTCAGGCTAAAAATTCAAGTGAGTAGGGACTGCCCTCTGTCAAATAGACTTATTAATGTAAATTAAAATGCTATTTTTTTTTTTTTTGAAATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAACGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTTCTGTAAGGCTATAAACCACAGAGATTTTCAAGTACCACTCAGTGTTCAGGAAGCTGAACATTAATTACAAGTGCTTCTTGAAAGTACAAGGGTGAGGATCTTCCTGGAAGTACTATTGGTTAGATAAAATCTCTCCTGGTGGCAGTGCCTCTAATCAGAGTCTGGGGAATCCAAATGAGACGTGGCAATCAAGAATAAGTACAATAAAAGTCCAAAAAGGCTTCAAAATTTCCATCTGGAGGAAGCCAAGTGTCATAAGGAGACTCAAACTGGGTCAGGTACAGAGAATGGTAAAAGCAGCATTCTAAACCTAGCCAAGAGCCATTTGCTGTACACTACAGCCGCAAAATGTGCATGAAGACTCTGCTTTGGGATCTAGAAATTGATTCAAGCCAAGCACCTCTGAAAAGTCCCCAAGGACTACTGGCATTCTTTGGACACTGCCTAAGAAGTTACTTTCTAGGCTCTTGTGTTAGGATAGAACTCTTAGGCTGCTTTAGCACACAATCATCACTTAACAGTGGGGCTGGTATCCTTTTCTGGCTCAAGGACTTCATTTCAAAGN
|
benign
| 325,730 |
Variant on chromosome 22, at position 31760683, affecting DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Familial_focal_epilepsy_with_variable_foci']
|
TGAGTGTCTCATAGGATCCATGGAACTGGGCAATTCACTGTTTCCAAATGATGTCCAAGGCAGATAGCTCTCTTTGCCTTTCAAAATGCTCATGCTGTGATGGCTCAATCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGTAGGTCATTTGAGCCCGGGAGTTCGAGACCAGCCTGGGCAACATAGAGGGACCCTGTCTTAAAAAAAAATGATCATGCCTTCTAGGATTTGATCAACAAATAATTTTTCAAAAGTGGTCCATTCCTTCGTTTTTTTTTTTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTAGAGTGCAGTTGTGTAATCTCAGCTCACTGCAACCTCTGCCTCCCAGCCCCAAGTGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCTCAGCCTCCCGAGTAGCTGAGATTACAGGCATGCGCCATCACGCCCAGCTAATTTTGCATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATCCACTGGCCTTGGCCTCCCAATGTGCTGGGATTACAGGTATGAGGCACCGCACCTGGCCTAATTTTTGTGTTTTTTAGTAGAGATGGGGTTTCACCATATTGTCCAGGCTTGTCTCAAGTCATCCATCCTGCTAGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCATACCGAGCCGTTTTTTTTGTTTTTTTTGTTTTTTTTTGTTTTTTTTGAGATGAAATCTCACTCTGTCACCCAGGCTGAAGTGCAGTGGTGGGATCTTGGCTCACTGCAATCTCTGTCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGTGCCACCATGCTTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCTTAAAGTGCTAGGATTACAGGCATGAGCTACCTTGCCGCGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTAAGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGACTCTTCTGCCTCAGCCTGTCGAGTAGCTGGAACTACAGGTGTGGGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTATAGGCATGAGCCACCGAGCCCAGCCTCTTTCTGGTTTTAAAGCTGAGATGACAACTGAAAGGTTCTGTAGCATTTGTCCATTTCCTTTAGTGCGTATGGAGTTTCTTTGTTTCTTTTTTTTTTTTTGTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACTATGCCCGGCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGGCCTAATTTTTTCTATTTTTTAGTAGAGAAGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGGTCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCGAGTTTCTTTGTTTCTGAGGGAGCTTTCTCCCGTTGTTGTGCTGTAAGTCACAGAATGGCCAGAGTGACCTATTTGCCTTTTGTCGGGGATGAAGGTTGCTAGGGAGTTACTGTTCACGGTATCCCAACTCTCTTGTTGCTTTCTTTTTCAGCCCTCTGCTTTTGCAGGTCAAGTCTCTTAAGGAAGATTTACAGAAGGGTAAGAATTATATCACTCTTCTTAGAATTTTTTATTTACTGCCTCAGAAACTGTAAGAAATCTCTCTTCATAATTTCAAGGGATGAGGGCAAGTAATTCTCTTCTTTTTTAAACAAATTTTAATTTAACTTTCAATTCAGGCAGTACATGGGAATGTTTGTTACATGGGTATATTGTGTACTGGTGGGGATTGGGCTTCTATTGTATCCATTACACAGTGAACCTTGTATCTGACAGAACAGATACAGATAAAGAATGTTGTATCTGTGTCTTAACATTGTTTTTTTTTTTTTTTCTGAGACAGTGTCTTGTTCTGTCACCCAGGTTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGACACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACTTCATGATCCTCCTGCCTTGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCTGAACATTGTATTTTTCAACCTTCATTCTCTTCCCTGTCCTTGTTTTTGGAGTCCCAAGTGTCTATTATTTCCATCCCACTTATAGGTAAGAACATGCAGTATTTGGTTTTCTGTTTGTGAGTTAGTTCACTTAGGATAATGGTGGCCTCCAACTCCATCCATGTTGCTGCAGTGGACATGATTCCATTTTTTTATGACTGTAGTTCTCTTCTTATCAAACTATGTTGCCACTAAAAAAAAAATTGTAAAGTGACGCTTATAGTCCTAGCTACTCTGGAGGCTGAGGTGGAAGGATCATTGGGTCCCAAGAGTTTGAGGTTTCAATGAGCTATAACGGTGCCACCGCAGTCTAGCCTGGTCAACAGAGCAAGACCCTATCTCAAAAAAAAAAAAAAAAAAAAATAGGCCAGGCACGGTGGCTTATGCCTGTAATCCTGGGAGTTTGGGCGGCTGAGGCAGGCGGATTGCCTGAGCTCAGGAGTTTGCGACCAGCCTGGGCAAAACGGTGAAACCCTGTCTCTACTAAAATACAAAATATTAGCCGGGTGTGGTGGCATGCACCTATAATCCTAGCTACCCTGGAGGCCGAGGTAGGAGAATTACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGGTCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGGCTCAAAAAAAAAAAAAAAAAAAAAATACACAACCTGCCTGTTGCCCAGGTTGGTCTTGAACTCCTGGCCTCAAGTGGAGTTCCTGACACCTTGACCTCCCAAAGTGCTAAGATTGCAGGTGTGATCCACCACATCTGTCCCATTTTTTCACAAACTATTTGTTAAATGCCTACTCTGGGTGAGTAGGGATTGGGGAGGAAGAAATATATATTGATGATCGCCCACCACATTGTGCAAGGTACTATCCTGGGAGCTTTGTGTAATCTAGCATTATCTTCCCAACAACTCTTGAGTGAGTGAGGAAGTTTATTATCTGCCGGACTATACAGTCTAGGCGTAGCCAGAAGCAGTGATTCCTGCTTACTTATTCTGGATTCAAATCCTTTCTTTTTCCCTCTAATGGCTATGCCATGCTGTTCAAGGAACCAAAATGTTAATTGAAAGTAAATAAGATACTCTTTTAAATAGTTCTTAAGAGAAAAAAACAAAATTCTGGGTTGCTCTAAAGGGCTTTGATGGCTGGGTGCAGTGGCTGACGCCTGTAATCCCAACACTTTGGGAGGCTGAAGTAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTAAAACCCCGTCTCTACTAAAAATATAAAATTAGCCAGGCATTGTGGCGCATGCCTGTAATCTCAGCTACTCGGGAAGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCAGAAGTTGTGGTGAGCTGAGATCACGCCATTGCACT
|
TGAGTGTCTCATAGGATCCATGGAACTGGGCAATTCACTGTTTCCAAATGATGTCCAAGGCAGATAGCTCTCTTTGCCTTTCAAAATGCTCATGCTGTGATGGCTCAATCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGTAGGTCATTTGAGCCCGGGAGTTCGAGACCAGCCTGGGCAACATAGAGGGACCCTGTCTTAAAAAAAAATGATCATGCCTTCTAGGATTTGATCAACAAATAATTTTTCAAAAGTGGTCCATTCCTTCGTTTTTTTTTTTTTGAGATGGAGTCTAGCTCTGTCACCCAGGCTAGAGTGCAGTTGTGTAATCTCAGCTCACTGCAACCTCTGCCTCCCAGCCCCAAGTGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCTCAGCCTCCCGAGTAGCTGAGATTACAGGCATGCGCCATCACGCCCAGCTAATTTTGCATTTTTGGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATCCACTGGCCTTGGCCTCCCAATGTGCTGGGATTACAGGTATGAGGCACCGCACCTGGCCTAATTTTTGTGTTTTTTAGTAGAGATGGGGTTTCACCATATTGTCCAGGCTTGTCTCAAGTCATCCATCCTGCTAGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCATACCGAGCCGTTTTTTTTGTTTTTTTTGTTTTTTTTTGTTTTTTTTGAGATGAAATCTCACTCTGTCACCCAGGCTGAAGTGCAGTGGTGGGATCTTGGCTCACTGCAATCTCTGTCTTCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGTGCCACCATGCTTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCGTGATCCGCCTGCCTTGGCCTCTTAAAGTGCTAGGATTACAGGCATGAGCTACCTTGCCGCGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTAAGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCCACCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGACTCTTCTGCCTCAGCCTGTCGAGTAGCTGGAACTACAGGTGTGGGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTATAGGCATGAGCCACCGAGCCCAGCCTCTTTCTGGTTTTAAAGCTGAGATGACAACTGAAAGGTTCTGTAGCATTTGTCCATTTCCTTTAGTGCGTATGGAGTTTCTTTGTTTCTTTTTTTTTTTTTGTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACTATGCCCGGCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGGCCTAATTTTTTCTATTTTTTAGTAGAGAAGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGGTCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCGAGTTTCTTTGTTTCTGAGGGAGCTTTCTCCCGTTGTTGTGCTGTAAGTCACAGAATGGCCAGAGTGACCTATTTGCCTTTTGTCGGGGATGAAGGTTGCTAGGGAGTTACTGTTCACGGTATCCCAACTCTCTTGTTGCTTTCTTTTTCAGCCCTCTGCTTTTGCAGGTCAAGTCTCTTAAGATTTACAGAAGGGTAAGAATTATATCACTCTTCTTAGAATTTTTTATTTACTGCCTCAGAAACTGTAAGAAATCTCTCTTCATAATTTCAAGGGATGAGGGCAAGTAATTCTCTTCTTTTTTAAACAAATTTTAATTTAACTTTCAATTCAGGCAGTACATGGGAATGTTTGTTACATGGGTATATTGTGTACTGGTGGGGATTGGGCTTCTATTGTATCCATTACACAGTGAACCTTGTATCTGACAGAACAGATACAGATAAAGAATGTTGTATCTGTGTCTTAACATTGTTTTTTTTTTTTTTTCTGAGACAGTGTCTTGTTCTGTCACCCAGGTTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGACACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACTTCATGATCCTCCTGCCTTGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCTGAACATTGTATTTTTCAACCTTCATTCTCTTCCCTGTCCTTGTTTTTGGAGTCCCAAGTGTCTATTATTTCCATCCCACTTATAGGTAAGAACATGCAGTATTTGGTTTTCTGTTTGTGAGTTAGTTCACTTAGGATAATGGTGGCCTCCAACTCCATCCATGTTGCTGCAGTGGACATGATTCCATTTTTTTATGACTGTAGTTCTCTTCTTATCAAACTATGTTGCCACTAAAAAAAAAATTGTAAAGTGACGCTTATAGTCCTAGCTACTCTGGAGGCTGAGGTGGAAGGATCATTGGGTCCCAAGAGTTTGAGGTTTCAATGAGCTATAACGGTGCCACCGCAGTCTAGCCTGGTCAACAGAGCAAGACCCTATCTCAAAAAAAAAAAAAAAAAAAAATAGGCCAGGCACGGTGGCTTATGCCTGTAATCCTGGGAGTTTGGGCGGCTGAGGCAGGCGGATTGCCTGAGCTCAGGAGTTTGCGACCAGCCTGGGCAAAACGGTGAAACCCTGTCTCTACTAAAATACAAAATATTAGCCGGGTGTGGTGGCATGCACCTATAATCCTAGCTACCCTGGAGGCCGAGGTAGGAGAATTACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGGTCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGGCTCAAAAAAAAAAAAAAAAAAAAAATACACAACCTGCCTGTTGCCCAGGTTGGTCTTGAACTCCTGGCCTCAAGTGGAGTTCCTGACACCTTGACCTCCCAAAGTGCTAAGATTGCAGGTGTGATCCACCACATCTGTCCCATTTTTTCACAAACTATTTGTTAAATGCCTACTCTGGGTGAGTAGGGATTGGGGAGGAAGAAATATATATTGATGATCGCCCACCACATTGTGCAAGGTACTATCCTGGGAGCTTTGTGTAATCTAGCATTATCTTCCCAACAACTCTTGAGTGAGTGAGGAAGTTTATTATCTGCCGGACTATACAGTCTAGGCGTAGCCAGAAGCAGTGATTCCTGCTTACTTATTCTGGATTCAAATCCTTTCTTTTTCCCTCTAATGGCTATGCCATGCTGTTCAAGGAACCAAAATGTTAATTGAAAGTAAATAAGATACTCTTTTAAATAGTTCTTAAGAGAAAAAAACAAAATTCTGGGTTGCTCTAAAGGGCTTTGATGGCTGGGTGCAGTGGCTGACGCCTGTAATCCCAACACTTTGGGAGGCTGAAGTAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTAAAACCCCGTCTCTACTAAAAATATAAAATTAGCCAGGCATTGTGGCGCATGCCTGTAATCTCAGCTACTCGGGAAGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGCAGAAGTTGTGGTGAGCTGAGATCACGCCATTGCACTNNNN
|
pathogenic
| 325,767 |
Mutation found at chromosome 22 position 31764978, gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Epilepsy,_familial_focal,_with_variable_foci_1', 'Familial_focal_epilepsy_with_variable_foci']
|
TCAGCCTCCCAGGTAGTTAGGACTACAGGCGTGCACCACCATGCCTGGCTAATTTTTATATTTATATTTTTATTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAACGCAATGACATGGTCTCAGCTCACTGCAACCTCCGCCTCCTGGATTCAAGGGATTCTCCTGCCTCAGCCTCCTCAGTAGCTGGGATTACAGGTGCACGCCACCACACCTGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACTATGTTGTCCAGGCTAGTCTCGAACTGCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCATGCCCGGCCTAATTTTTATATATTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTCACCCCAGGTGATCTGCCTGCCTCAACCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCACTGCACCATTGCCCCTGCCTTTTTTTTTTTTCTTTTTCCCTTTCAGACAGGGCCTCTCTCTGTTGTCCAGACTGGAGTGCAGTGGTGCAGTCACGGCTCACTGCAGCCTCAACCTCCCTGGGTGCAAATGATTCTCCATCTCCCACCTCCGCCTCCCGAGTAGCTAAGACCCCAGACGCCCAGCCCACAGGATCATGCCTGGCTAATTTTTTTTTTTTTAATTTTTGCTCAGGCTGGTCTTGAACTCCTGGGCCCAAGCAGTCCTCATGCCTTGGCCTCCTAAAGTGCTAGGATTACAGGCATGAGTCACCATGCCTGGCTATCCACTCATATTTAACAATTCAATATTTCAATTTGAGGAGAAAACATTCTATAAAACCTGGCTACTCTGGTTACGCTGCCTATGGGTTATCCCTGCTCTGCAAGGAGCAGTAAAAAAAAAATTTAAAGTTTTCATTTTTATTGTTATGTTGTGTGGTGTTATGTTTTTTATGTTATGTTATGTTATGTTTGTTATGTTATGTTATGTTATTTTGAGATGGAGTATCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATTTTGGCTCACTGCAACTTCCACCTCCTAGGTTCAAGCAATTCTCCTGCCTCTGCCTCCTGAGTAGCTGGGACTACAGGTGCGCACCACGACACCTGGCTAAATTTTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCTGAGCCACCACATGCAGCCAATTTAAAGATTTTAAAAGAATTCTATAAAACCTTAATCCTAAGAATGGCCTTCATACCTTCCCCTTATCTCCTGCCCCATGTTACGTTTCTTACCAGACTTAAGGGCTCATTGAAAAATTTGTTTCTTCTTTACCACTGATAACTTCATTCCAAAGAGAAGATCTCCTTTCTCTTCTGGAGTTTTACAGGTCTTTGAACTTTCTTATCTTCCTTCTTATTTAATTTATTTATTTATTGAGACAGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAGTGGTACGATCTCAGCTCGCTACAACCTCTGTCTCTGGGGTTCAAGCGATTTGTATGCCTCAGCCTCCCAAGTAGCTTGGATTACAGGCGCCCACCATCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTGCTGACCTCAGGTGATCTTCCTGCCTAGACCTCCCAAAGTGCTGAGATTACAGGTGTTAGCCACCATACCCAGCCTCTTCCTTCTTAAATTCTTTATTTTCCCTCCCTTCTCCCTTTTTCTCTCCATTTTTGTTGATTGCTTAGGCTCTGGTCTTATTTCACCTAAAAAGCAGAGAATTGTTTAAATTCTAAGCTCCTGAAAGGAAGAGACTGTGTGTTGCCCGTGTCAGATGATCAATTGTGTTGCTTACTGAGTTGAGTGTTTATAGATTAGAATATATGGATCTGCTTTTTCAAAATATGTTATCTGAGCCAGATATTGTTTCTGTTTTAGAAACTATCAGTGTGGACCAGACTGTGACTCAAGTGTTCCGGCTGAGACCTTATCAGGATGTCTATGTTAATGTCGTAGACCCTAAGGTATGTCTTTGTTTTGTACTTGAATATCTTTTTGGAATAAGCACCCTTCCTCAAGGTTAGATTACTAAGGAAACAATGGGTTACTTAAGTGTAGTGTTAGCCTATTAAATGTGTGGCCTGCTAGGTGTGGTAATTTCAGTACATCAGGAGGCTGAGACAGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGAGCAGCATAGTTAGACCTTGTCTTTATTAAAACTTTCCTTTTTCTTTTTTTTGAAATGGAGTATCACTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACTGGTGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCCTGCACCACCGCACCCAGCTAATTTTTGTATTTTTGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGTTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAGAGTGCTGGGATTCCAGGTAGGAGCTACCGCGTCCTGCCTACTAAAACTTTTCTAAAAGATTAGCTGGGTGTGTTGTATATGCCTGTAGTTCCAACTACGTGAAAGGCTGCAACAGGAGGATTGCTTGTGCGCTATTGCACTTCAGCCTGGGCAACAGAACAAGACCTTGTCTTGTAAAACTAAACATGTAGACCATGGGTGGTGGCCCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATGACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGAAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAACTTAGCTGGGTGTGGTGGCGCACCCCTGAAGTCCCATCTACTCGGGAGGCTGAGGCATGAGAGTCACTTGAGCCCAGGAGGCGGAGGCTGCAGTGAGTGAGCTGAGATCGTGCCACTGCACTCCAACCTGGGCAACAGCAATATCCTGTCTCAAAAAATAATAATAACTAAATAAATATGTAGCCTACATGTCATTTAGAATGTAGGCAGTATGTAGGTTGCATTTAAAACCCACCACCACTTTTCTTGAAGCTTGTCCTAACCATTTTCTGTATGTGAAACTATATGTAAAACTTTCTATTAAAATACTAACATTTTAAAATGTATTCTCATTTTTCTTCAAGAAGTGATGTTATAATAGATAAAAATTATTGTCCAGAAAGTACTATTGACATTAATAGGGAAATAAAGTACATAGGTAAGTGTCATGTTTGTGTGCCAGAATCCAGACTAAAATACAGAATGAGTCCCCCACTACCCATCACACTCAATGTGCTACAGCAGCTATAGGATCAGTTGTAGATTTACCAACTATACTGAAAAGTGTGCTTTTGCAGGATATAATTCTGTTCATCAGAGTTCTGCTACTGAATGGTCTTCCAGTAGTTTTCTTTTTTGCAATAAGTTTTTTTCCATGGTAAGTGGGCATTACCTTCTGACTATAAAGTGTGGCAAAGTAATGTCAGAGATATCATTTGATTATTCCTTTTAGGATGTGACCCTTGACCTAGTGGAATTAACTTTTAAGGATCAGTATATTGGCCGTGGGGATATGTGGCGACTAAAGAAAAGTTTGGTAAGATGTGATTTTTTTTGAAAGTCTGTTACTTTTTCCATTATGTGAATAATCCCTGTTTATTATGGGAGAAGAATATAAAATCGTTTCTGATTTTATATCAGCATCTACAGACAATTATTGTCAACGTCTTCTGTGTTCTTCCATTCTCTTTTCACTGTTCTTTTGATCTTTTGTTTACTGTTACAGATTTTTACTCAGCATTTTTGGTTTAGATAGGAAGTTATACTGTATTTTACATTGGAATAGAACCGTACTTTTCAGGTTTTCACTTTATCCCATTTGCTCCTCACATCTCCTCATGGACAGGTATTTATTATCCCTAATTTATAGAGGTAGAAACTGAGATTGAGAAGT
|
TCAGCCTCCCAGGTAGTTAGGACTACAGGCGTGCACCACCATGCCTGGCTAATTTTTATATTTATATTTTTATTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAACGCAATGACATGGTCTCAGCTCACTGCAACCTCCGCCTCCTGGATTCAAGGGATTCTCCTGCCTCAGCCTCCTCAGTAGCTGGGATTACAGGTGCACGCCACCACACCTGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACTATGTTGTCCAGGCTAGTCTCGAACTGCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCATGCCCGGCCTAATTTTTATATATTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTCACCCCAGGTGATCTGCCTGCCTCAACCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCACTGCACCATTGCCCCTGCCTTTTTTTTTTTTCTTTTTCCCTTTCAGACAGGGCCTCTCTCTGTTGTCCAGACTGGAGTGCAGTGGTGCAGTCACGGCTCACTGCAGCCTCAACCTCCCTGGGTGCAAATGATTCTCCATCTCCCACCTCCGCCTCCCGAGTAGCTAAGACCCCAGACGCCCAGCCCACAGGATCATGCCTGGCTAATTTTTTTTTTTTTAATTTTTGCTCAGGCTGGTCTTGAACTCCTGGGCCCAAGCAGTCCTCATGCCTTGGCCTCCTAAAGTGCTAGGATTACAGGCATGAGTCACCATGCCTGGCTATCCACTCATATTTAACAATTCAATATTTCAATTTGAGGAGAAAACATTCTATAAAACCTGGCTACTCTGGTTACGCTGCCTATGGGTTATCCCTGCTCTGCAAGGAGCAGTAAAAAAAAAATTTAAAGTTTTCATTTTTATTGTTATGTTGTGTGGTGTTATGTTTTTTATGTTATGTTATGTTATGTTTGTTATGTTATGTTATGTTATTTTGAGATGGAGTATCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATTTTGGCTCACTGCAACTTCCACCTCCTAGGTTCAAGCAATTCTCCTGCCTCTGCCTCCTGAGTAGCTGGGACTACAGGTGCGCACCACGACACCTGGCTAAATTTTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCTGAGCCACCACATGCAGCCAATTTAAAGATTTTAAAAGAATTCTATAAAACCTTAATCCTAAGAATGGCCTTCATACCTTCCCCTTATCTCCTGCCCCATGTTACGTTTCTTACCAGACTTAAGGGCTCATTGAAAAATTTGTTTCTTCTTTACCACTGATAACTTCATTCCAAAGAGAAGATCTCCTTTCTCTTCTGGAGTTTTACAGGTCTTTGAACTTTCTTATCTTCCTTCTTATTTAATTTATTTATTTATTGAGACAGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAGTGGTACGATCTCAGCTCGCTACAACCTCTGTCTCTGGGGTTCAAGCGATTTGTATGCCTCAGCCTCCCAAGTAGCTTGGATTACAGGCGCCCACCATCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTGCTGACCTCAGGTGATCTTCCTGCCTAGACCTCCCAAAGTGCTGAGATTACAGGTGTTAGCCACCATACCCAGCCTCTTCCTTCTTAAATTCTTTATTTTCCCTCCCTTCTCCCTTTTTCTCTCCATTTTTGTTGATTGCTTAGGCTCTGGTCTTATTTCACCTAAAAAGCAGAGAATTGTTTAAATTCTAAGCTCCTGAAAGGAAGAGACTGTGTGTTGCCCGTGTCAGATGATCAATTGTGTTGCTTACTGAGTTGAGTGTTTATAGATTAGAATATATGGATCTGCTTTTTCAAAATATGTTATCTGAGCCAGATATTGTTTCTGTTTTAGAAACTTATCAGTGTGGACCAGACTGTGACTCAAGTGTTCCGGCTGAGACCTTATCAGGATGTCTATGTTAATGTCGTAGACCCTAAGGTATGTCTTTGTTTTGTACTTGAATATCTTTTTGGAATAAGCACCCTTCCTCAAGGTTAGATTACTAAGGAAACAATGGGTTACTTAAGTGTAGTGTTAGCCTATTAAATGTGTGGCCTGCTAGGTGTGGTAATTTCAGTACATCAGGAGGCTGAGACAGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGAGCAGCATAGTTAGACCTTGTCTTTATTAAAACTTTCCTTTTTCTTTTTTTTGAAATGGAGTATCACTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACTGGTGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCCTGCACCACCGCACCCAGCTAATTTTTGTATTTTTGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGTTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAGAGTGCTGGGATTCCAGGTAGGAGCTACCGCGTCCTGCCTACTAAAACTTTTCTAAAAGATTAGCTGGGTGTGTTGTATATGCCTGTAGTTCCAACTACGTGAAAGGCTGCAACAGGAGGATTGCTTGTGCGCTATTGCACTTCAGCCTGGGCAACAGAACAAGACCTTGTCTTGTAAAACTAAACATGTAGACCATGGGTGGTGGCCCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATGACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGAAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAACTTAGCTGGGTGTGGTGGCGCACCCCTGAAGTCCCATCTACTCGGGAGGCTGAGGCATGAGAGTCACTTGAGCCCAGGAGGCGGAGGCTGCAGTGAGTGAGCTGAGATCGTGCCACTGCACTCCAACCTGGGCAACAGCAATATCCTGTCTCAAAAAATAATAATAACTAAATAAATATGTAGCCTACATGTCATTTAGAATGTAGGCAGTATGTAGGTTGCATTTAAAACCCACCACCACTTTTCTTGAAGCTTGTCCTAACCATTTTCTGTATGTGAAACTATATGTAAAACTTTCTATTAAAATACTAACATTTTAAAATGTATTCTCATTTTTCTTCAAGAAGTGATGTTATAATAGATAAAAATTATTGTCCAGAAAGTACTATTGACATTAATAGGGAAATAAAGTACATAGGTAAGTGTCATGTTTGTGTGCCAGAATCCAGACTAAAATACAGAATGAGTCCCCCACTACCCATCACACTCAATGTGCTACAGCAGCTATAGGATCAGTTGTAGATTTACCAACTATACTGAAAAGTGTGCTTTTGCAGGATATAATTCTGTTCATCAGAGTTCTGCTACTGAATGGTCTTCCAGTAGTTTTCTTTTTTGCAATAAGTTTTTTTCCATGGTAAGTGGGCATTACCTTCTGACTATAAAGTGTGGCAAAGTAATGTCAGAGATATCATTTGATTATTCCTTTTAGGATGTGACCCTTGACCTAGTGGAATTAACTTTTAAGGATCAGTATATTGGCCGTGGGGATATGTGGCGACTAAAGAAAAGTTTGGTAAGATGTGATTTTTTTTGAAAGTCTGTTACTTTTTCCATTATGTGAATAATCCCTGTTTATTATGGGAGAAGAATATAAAATCGTTTCTGATTTTATATCAGCATCTACAGACAATTATTGTCAACGTCTTCTGTGTTCTTCCATTCTCTTTTCACTGTTCTTTTGATCTTTTGTTTACTGTTACAGATTTTTACTCAGCATTTTTGGTTTAGATAGGAAGTTATACTGTATTTTACATTGGAATAGAACCGTACTTTTCAGGTTTTCACTTTATCCCATTTGCTCCTCACATCTCCTCATGGACAGGTATTTATTATCCCTAATTTATAGAGGTAGAAACTGAGATTGAGAAG
|
pathogenic
| 325,770 |
A mutation at chromosome position 31764996 on chromosome 22 in gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Familial_focal_epilepsy_with_variable_foci']
|
AGGACTACAGGCGTGCACCACCATGCCTGGCTAATTTTTATATTTATATTTTTATTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAACGCAATGACATGGTCTCAGCTCACTGCAACCTCCGCCTCCTGGATTCAAGGGATTCTCCTGCCTCAGCCTCCTCAGTAGCTGGGATTACAGGTGCACGCCACCACACCTGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACTATGTTGTCCAGGCTAGTCTCGAACTGCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCATGCCCGGCCTAATTTTTATATATTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTCACCCCAGGTGATCTGCCTGCCTCAACCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCACTGCACCATTGCCCCTGCCTTTTTTTTTTTTCTTTTTCCCTTTCAGACAGGGCCTCTCTCTGTTGTCCAGACTGGAGTGCAGTGGTGCAGTCACGGCTCACTGCAGCCTCAACCTCCCTGGGTGCAAATGATTCTCCATCTCCCACCTCCGCCTCCCGAGTAGCTAAGACCCCAGACGCCCAGCCCACAGGATCATGCCTGGCTAATTTTTTTTTTTTTAATTTTTGCTCAGGCTGGTCTTGAACTCCTGGGCCCAAGCAGTCCTCATGCCTTGGCCTCCTAAAGTGCTAGGATTACAGGCATGAGTCACCATGCCTGGCTATCCACTCATATTTAACAATTCAATATTTCAATTTGAGGAGAAAACATTCTATAAAACCTGGCTACTCTGGTTACGCTGCCTATGGGTTATCCCTGCTCTGCAAGGAGCAGTAAAAAAAAAATTTAAAGTTTTCATTTTTATTGTTATGTTGTGTGGTGTTATGTTTTTTATGTTATGTTATGTTATGTTTGTTATGTTATGTTATGTTATTTTGAGATGGAGTATCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATTTTGGCTCACTGCAACTTCCACCTCCTAGGTTCAAGCAATTCTCCTGCCTCTGCCTCCTGAGTAGCTGGGACTACAGGTGCGCACCACGACACCTGGCTAAATTTTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCTGAGCCACCACATGCAGCCAATTTAAAGATTTTAAAAGAATTCTATAAAACCTTAATCCTAAGAATGGCCTTCATACCTTCCCCTTATCTCCTGCCCCATGTTACGTTTCTTACCAGACTTAAGGGCTCATTGAAAAATTTGTTTCTTCTTTACCACTGATAACTTCATTCCAAAGAGAAGATCTCCTTTCTCTTCTGGAGTTTTACAGGTCTTTGAACTTTCTTATCTTCCTTCTTATTTAATTTATTTATTTATTGAGACAGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAGTGGTACGATCTCAGCTCGCTACAACCTCTGTCTCTGGGGTTCAAGCGATTTGTATGCCTCAGCCTCCCAAGTAGCTTGGATTACAGGCGCCCACCATCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTGCTGACCTCAGGTGATCTTCCTGCCTAGACCTCCCAAAGTGCTGAGATTACAGGTGTTAGCCACCATACCCAGCCTCTTCCTTCTTAAATTCTTTATTTTCCCTCCCTTCTCCCTTTTTCTCTCCATTTTTGTTGATTGCTTAGGCTCTGGTCTTATTTCACCTAAAAAGCAGAGAATTGTTTAAATTCTAAGCTCCTGAAAGGAAGAGACTGTGTGTTGCCCGTGTCAGATGATCAATTGTGTTGCTTACTGAGTTGAGTGTTTATAGATTAGAATATATGGATCTGCTTTTTCAAAATATGTTATCTGAGCCAGATATTGTTTCTGTTTTAGAAACTATCAGTGTGGACCAGACTGTGACTCAAGTGTTCCGGCTGAGACCTTATCAGGATGTCTATGTTAATGTCGTAGACCCTAAGGTATGTCTTTGTTTTGTACTTGAATATCTTTTTGGAATAAGCACCCTTCCTCAAGGTTAGATTACTAAGGAAACAATGGGTTACTTAAGTGTAGTGTTAGCCTATTAAATGTGTGGCCTGCTAGGTGTGGTAATTTCAGTACATCAGGAGGCTGAGACAGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGAGCAGCATAGTTAGACCTTGTCTTTATTAAAACTTTCCTTTTTCTTTTTTTTGAAATGGAGTATCACTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACTGGTGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCCTGCACCACCGCACCCAGCTAATTTTTGTATTTTTGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGTTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAGAGTGCTGGGATTCCAGGTAGGAGCTACCGCGTCCTGCCTACTAAAACTTTTCTAAAAGATTAGCTGGGTGTGTTGTATATGCCTGTAGTTCCAACTACGTGAAAGGCTGCAACAGGAGGATTGCTTGTGCGCTATTGCACTTCAGCCTGGGCAACAGAACAAGACCTTGTCTTGTAAAACTAAACATGTAGACCATGGGTGGTGGCCCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATGACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGAAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAACTTAGCTGGGTGTGGTGGCGCACCCCTGAAGTCCCATCTACTCGGGAGGCTGAGGCATGAGAGTCACTTGAGCCCAGGAGGCGGAGGCTGCAGTGAGTGAGCTGAGATCGTGCCACTGCACTCCAACCTGGGCAACAGCAATATCCTGTCTCAAAAAATAATAATAACTAAATAAATATGTAGCCTACATGTCATTTAGAATGTAGGCAGTATGTAGGTTGCATTTAAAACCCACCACCACTTTTCTTGAAGCTTGTCCTAACCATTTTCTGTATGTGAAACTATATGTAAAACTTTCTATTAAAATACTAACATTTTAAAATGTATTCTCATTTTTCTTCAAGAAGTGATGTTATAATAGATAAAAATTATTGTCCAGAAAGTACTATTGACATTAATAGGGAAATAAAGTACATAGGTAAGTGTCATGTTTGTGTGCCAGAATCCAGACTAAAATACAGAATGAGTCCCCCACTACCCATCACACTCAATGTGCTACAGCAGCTATAGGATCAGTTGTAGATTTACCAACTATACTGAAAAGTGTGCTTTTGCAGGATATAATTCTGTTCATCAGAGTTCTGCTACTGAATGGTCTTCCAGTAGTTTTCTTTTTTGCAATAAGTTTTTTTCCATGGTAAGTGGGCATTACCTTCTGACTATAAAGTGTGGCAAAGTAATGTCAGAGATATCATTTGATTATTCCTTTTAGGATGTGACCCTTGACCTAGTGGAATTAACTTTTAAGGATCAGTATATTGGCCGTGGGGATATGTGGCGACTAAAGAAAAGTTTGGTAAGATGTGATTTTTTTTGAAAGTCTGTTACTTTTTCCATTATGTGAATAATCCCTGTTTATTATGGGAGAAGAATATAAAATCGTTTCTGATTTTATATCAGCATCTACAGACAATTATTGTCAACGTCTTCTGTGTTCTTCCATTCTCTTTTCACTGTTCTTTTGATCTTTTGTTTACTGTTACAGATTTTTACTCAGCATTTTTGGTTTAGATAGGAAGTTATACTGTATTTTACATTGGAATAGAACCGTACTTTTCAGGTTTTCACTTTATCCCATTTGCTCCTCACATCTCCTCATGGACAGGTATTTATTATCCCTAATTTATAGAGGTAGAAACTGAGATTGAGAAGTTAGGTAATTGCCCAAGGC
|
AGGACTACAGGCGTGCACCACCATGCCTGGCTAATTTTTATATTTATATTTTTATTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAACGCAATGACATGGTCTCAGCTCACTGCAACCTCCGCCTCCTGGATTCAAGGGATTCTCCTGCCTCAGCCTCCTCAGTAGCTGGGATTACAGGTGCACGCCACCACACCTGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACTATGTTGTCCAGGCTAGTCTCGAACTGCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCATGCCCGGCCTAATTTTTATATATTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTCACCCCAGGTGATCTGCCTGCCTCAACCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCACTGCACCATTGCCCCTGCCTTTTTTTTTTTTCTTTTTCCCTTTCAGACAGGGCCTCTCTCTGTTGTCCAGACTGGAGTGCAGTGGTGCAGTCACGGCTCACTGCAGCCTCAACCTCCCTGGGTGCAAATGATTCTCCATCTCCCACCTCCGCCTCCCGAGTAGCTAAGACCCCAGACGCCCAGCCCACAGGATCATGCCTGGCTAATTTTTTTTTTTTTAATTTTTGCTCAGGCTGGTCTTGAACTCCTGGGCCCAAGCAGTCCTCATGCCTTGGCCTCCTAAAGTGCTAGGATTACAGGCATGAGTCACCATGCCTGGCTATCCACTCATATTTAACAATTCAATATTTCAATTTGAGGAGAAAACATTCTATAAAACCTGGCTACTCTGGTTACGCTGCCTATGGGTTATCCCTGCTCTGCAAGGAGCAGTAAAAAAAAAATTTAAAGTTTTCATTTTTATTGTTATGTTGTGTGGTGTTATGTTTTTTATGTTATGTTATGTTATGTTTGTTATGTTATGTTATGTTATTTTGAGATGGAGTATCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATTTTGGCTCACTGCAACTTCCACCTCCTAGGTTCAAGCAATTCTCCTGCCTCTGCCTCCTGAGTAGCTGGGACTACAGGTGCGCACCACGACACCTGGCTAAATTTTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCTGAGCCACCACATGCAGCCAATTTAAAGATTTTAAAAGAATTCTATAAAACCTTAATCCTAAGAATGGCCTTCATACCTTCCCCTTATCTCCTGCCCCATGTTACGTTTCTTACCAGACTTAAGGGCTCATTGAAAAATTTGTTTCTTCTTTACCACTGATAACTTCATTCCAAAGAGAAGATCTCCTTTCTCTTCTGGAGTTTTACAGGTCTTTGAACTTTCTTATCTTCCTTCTTATTTAATTTATTTATTTATTGAGACAGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAGTGGTACGATCTCAGCTCGCTACAACCTCTGTCTCTGGGGTTCAAGCGATTTGTATGCCTCAGCCTCCCAAGTAGCTTGGATTACAGGCGCCCACCATCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTGCTGACCTCAGGTGATCTTCCTGCCTAGACCTCCCAAAGTGCTGAGATTACAGGTGTTAGCCACCATACCCAGCCTCTTCCTTCTTAAATTCTTTATTTTCCCTCCCTTCTCCCTTTTTCTCTCCATTTTTGTTGATTGCTTAGGCTCTGGTCTTATTTCACCTAAAAAGCAGAGAATTGTTTAAATTCTAAGCTCCTGAAAGGAAGAGACTGTGTGTTGCCCGTGTCAGATGATCAATTGTGTTGCTTACTGAGTTGAGTGTTTATAGATTAGAATATATGGATCTGCTTTTTCAAAATATGTTATCTGAGCCAGATATTGTTTCTGTTTTAGAAACTATCAGTGTGGACCAGACTGACTCAAGTGTTCCGGCTGAGACCTTATCAGGATGTCTATGTTAATGTCGTAGACCCTAAGGTATGTCTTTGTTTTGTACTTGAATATCTTTTTGGAATAAGCACCCTTCCTCAAGGTTAGATTACTAAGGAAACAATGGGTTACTTAAGTGTAGTGTTAGCCTATTAAATGTGTGGCCTGCTAGGTGTGGTAATTTCAGTACATCAGGAGGCTGAGACAGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGAGCAGCATAGTTAGACCTTGTCTTTATTAAAACTTTCCTTTTTCTTTTTTTTGAAATGGAGTATCACTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACTGGTGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCCTGCACCACCGCACCCAGCTAATTTTTGTATTTTTGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGTTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAGAGTGCTGGGATTCCAGGTAGGAGCTACCGCGTCCTGCCTACTAAAACTTTTCTAAAAGATTAGCTGGGTGTGTTGTATATGCCTGTAGTTCCAACTACGTGAAAGGCTGCAACAGGAGGATTGCTTGTGCGCTATTGCACTTCAGCCTGGGCAACAGAACAAGACCTTGTCTTGTAAAACTAAACATGTAGACCATGGGTGGTGGCCCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATGACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGAAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAACTTAGCTGGGTGTGGTGGCGCACCCCTGAAGTCCCATCTACTCGGGAGGCTGAGGCATGAGAGTCACTTGAGCCCAGGAGGCGGAGGCTGCAGTGAGTGAGCTGAGATCGTGCCACTGCACTCCAACCTGGGCAACAGCAATATCCTGTCTCAAAAAATAATAATAACTAAATAAATATGTAGCCTACATGTCATTTAGAATGTAGGCAGTATGTAGGTTGCATTTAAAACCCACCACCACTTTTCTTGAAGCTTGTCCTAACCATTTTCTGTATGTGAAACTATATGTAAAACTTTCTATTAAAATACTAACATTTTAAAATGTATTCTCATTTTTCTTCAAGAAGTGATGTTATAATAGATAAAAATTATTGTCCAGAAAGTACTATTGACATTAATAGGGAAATAAAGTACATAGGTAAGTGTCATGTTTGTGTGCCAGAATCCAGACTAAAATACAGAATGAGTCCCCCACTACCCATCACACTCAATGTGCTACAGCAGCTATAGGATCAGTTGTAGATTTACCAACTATACTGAAAAGTGTGCTTTTGCAGGATATAATTCTGTTCATCAGAGTTCTGCTACTGAATGGTCTTCCAGTAGTTTTCTTTTTTGCAATAAGTTTTTTTCCATGGTAAGTGGGCATTACCTTCTGACTATAAAGTGTGGCAAAGTAATGTCAGAGATATCATTTGATTATTCCTTTTAGGATGTGACCCTTGACCTAGTGGAATTAACTTTTAAGGATCAGTATATTGGCCGTGGGGATATGTGGCGACTAAAGAAAAGTTTGGTAAGATGTGATTTTTTTTGAAAGTCTGTTACTTTTTCCATTATGTGAATAATCCCTGTTTATTATGGGAGAAGAATATAAAATCGTTTCTGATTTTATATCAGCATCTACAGACAATTATTGTCAACGTCTTCTGTGTTCTTCCATTCTCTTTTCACTGTTCTTTTGATCTTTTGTTTACTGTTACAGATTTTTACTCAGCATTTTTGGTTTAGATAGGAAGTTATACTGTATTTTACATTGGAATAGAACCGTACTTTTCAGGTTTTCACTTTATCCCATTTGCTCCTCACATCTCCTCATGGACAGGTATTTATTATCCCTAATTTATAGAGGTAGAAACTGAGATTGAGAAGTTAGGTAATTGCCCAAGGCNN
|
pathogenic
| 325,771 |
Regarding the variant found on chromosome 22 at position 31765011 in gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Familial_focal_epilepsy_with_variable_foci', 'Seizure']
|
CACCACCATGCCTGGCTAATTTTTATATTTATATTTTTATTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAACGCAATGACATGGTCTCAGCTCACTGCAACCTCCGCCTCCTGGATTCAAGGGATTCTCCTGCCTCAGCCTCCTCAGTAGCTGGGATTACAGGTGCACGCCACCACACCTGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACTATGTTGTCCAGGCTAGTCTCGAACTGCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCATGCCCGGCCTAATTTTTATATATTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTCACCCCAGGTGATCTGCCTGCCTCAACCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCACTGCACCATTGCCCCTGCCTTTTTTTTTTTTCTTTTTCCCTTTCAGACAGGGCCTCTCTCTGTTGTCCAGACTGGAGTGCAGTGGTGCAGTCACGGCTCACTGCAGCCTCAACCTCCCTGGGTGCAAATGATTCTCCATCTCCCACCTCCGCCTCCCGAGTAGCTAAGACCCCAGACGCCCAGCCCACAGGATCATGCCTGGCTAATTTTTTTTTTTTTAATTTTTGCTCAGGCTGGTCTTGAACTCCTGGGCCCAAGCAGTCCTCATGCCTTGGCCTCCTAAAGTGCTAGGATTACAGGCATGAGTCACCATGCCTGGCTATCCACTCATATTTAACAATTCAATATTTCAATTTGAGGAGAAAACATTCTATAAAACCTGGCTACTCTGGTTACGCTGCCTATGGGTTATCCCTGCTCTGCAAGGAGCAGTAAAAAAAAAATTTAAAGTTTTCATTTTTATTGTTATGTTGTGTGGTGTTATGTTTTTTATGTTATGTTATGTTATGTTTGTTATGTTATGTTATGTTATTTTGAGATGGAGTATCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATTTTGGCTCACTGCAACTTCCACCTCCTAGGTTCAAGCAATTCTCCTGCCTCTGCCTCCTGAGTAGCTGGGACTACAGGTGCGCACCACGACACCTGGCTAAATTTTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCTGAGCCACCACATGCAGCCAATTTAAAGATTTTAAAAGAATTCTATAAAACCTTAATCCTAAGAATGGCCTTCATACCTTCCCCTTATCTCCTGCCCCATGTTACGTTTCTTACCAGACTTAAGGGCTCATTGAAAAATTTGTTTCTTCTTTACCACTGATAACTTCATTCCAAAGAGAAGATCTCCTTTCTCTTCTGGAGTTTTACAGGTCTTTGAACTTTCTTATCTTCCTTCTTATTTAATTTATTTATTTATTGAGACAGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAGTGGTACGATCTCAGCTCGCTACAACCTCTGTCTCTGGGGTTCAAGCGATTTGTATGCCTCAGCCTCCCAAGTAGCTTGGATTACAGGCGCCCACCATCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTGCTGACCTCAGGTGATCTTCCTGCCTAGACCTCCCAAAGTGCTGAGATTACAGGTGTTAGCCACCATACCCAGCCTCTTCCTTCTTAAATTCTTTATTTTCCCTCCCTTCTCCCTTTTTCTCTCCATTTTTGTTGATTGCTTAGGCTCTGGTCTTATTTCACCTAAAAAGCAGAGAATTGTTTAAATTCTAAGCTCCTGAAAGGAAGAGACTGTGTGTTGCCCGTGTCAGATGATCAATTGTGTTGCTTACTGAGTTGAGTGTTTATAGATTAGAATATATGGATCTGCTTTTTCAAAATATGTTATCTGAGCCAGATATTGTTTCTGTTTTAGAAACTATCAGTGTGGACCAGACTGTGACTCAAGTGTTCCGGCTGAGACCTTATCAGGATGTCTATGTTAATGTCGTAGACCCTAAGGTATGTCTTTGTTTTGTACTTGAATATCTTTTTGGAATAAGCACCCTTCCTCAAGGTTAGATTACTAAGGAAACAATGGGTTACTTAAGTGTAGTGTTAGCCTATTAAATGTGTGGCCTGCTAGGTGTGGTAATTTCAGTACATCAGGAGGCTGAGACAGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGAGCAGCATAGTTAGACCTTGTCTTTATTAAAACTTTCCTTTTTCTTTTTTTTGAAATGGAGTATCACTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACTGGTGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCCTGCACCACCGCACCCAGCTAATTTTTGTATTTTTGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGTTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAGAGTGCTGGGATTCCAGGTAGGAGCTACCGCGTCCTGCCTACTAAAACTTTTCTAAAAGATTAGCTGGGTGTGTTGTATATGCCTGTAGTTCCAACTACGTGAAAGGCTGCAACAGGAGGATTGCTTGTGCGCTATTGCACTTCAGCCTGGGCAACAGAACAAGACCTTGTCTTGTAAAACTAAACATGTAGACCATGGGTGGTGGCCCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATGACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGAAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAACTTAGCTGGGTGTGGTGGCGCACCCCTGAAGTCCCATCTACTCGGGAGGCTGAGGCATGAGAGTCACTTGAGCCCAGGAGGCGGAGGCTGCAGTGAGTGAGCTGAGATCGTGCCACTGCACTCCAACCTGGGCAACAGCAATATCCTGTCTCAAAAAATAATAATAACTAAATAAATATGTAGCCTACATGTCATTTAGAATGTAGGCAGTATGTAGGTTGCATTTAAAACCCACCACCACTTTTCTTGAAGCTTGTCCTAACCATTTTCTGTATGTGAAACTATATGTAAAACTTTCTATTAAAATACTAACATTTTAAAATGTATTCTCATTTTTCTTCAAGAAGTGATGTTATAATAGATAAAAATTATTGTCCAGAAAGTACTATTGACATTAATAGGGAAATAAAGTACATAGGTAAGTGTCATGTTTGTGTGCCAGAATCCAGACTAAAATACAGAATGAGTCCCCCACTACCCATCACACTCAATGTGCTACAGCAGCTATAGGATCAGTTGTAGATTTACCAACTATACTGAAAAGTGTGCTTTTGCAGGATATAATTCTGTTCATCAGAGTTCTGCTACTGAATGGTCTTCCAGTAGTTTTCTTTTTTGCAATAAGTTTTTTTCCATGGTAAGTGGGCATTACCTTCTGACTATAAAGTGTGGCAAAGTAATGTCAGAGATATCATTTGATTATTCCTTTTAGGATGTGACCCTTGACCTAGTGGAATTAACTTTTAAGGATCAGTATATTGGCCGTGGGGATATGTGGCGACTAAAGAAAAGTTTGGTAAGATGTGATTTTTTTTGAAAGTCTGTTACTTTTTCCATTATGTGAATAATCCCTGTTTATTATGGGAGAAGAATATAAAATCGTTTCTGATTTTATATCAGCATCTACAGACAATTATTGTCAACGTCTTCTGTGTTCTTCCATTCTCTTTTCACTGTTCTTTTGATCTTTTGTTTACTGTTACAGATTTTTACTCAGCATTTTTGGTTTAGATAGGAAGTTATACTGTATTTTACATTGGAATAGAACCGTACTTTTCAGGTTTTCACTTTATCCCATTTGCTCCTCACATCTCCTCATGGACAGGTATTTATTATCCCTAATTTATAGAGGTAGAAACTGAGATTGAGAAGTTAGGTAATTGCCCAAGGCTAGATAGTAAGTTGA
|
CACCACCATGCCTGGCTAATTTTTATATTTATATTTTTATTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAACGCAATGACATGGTCTCAGCTCACTGCAACCTCCGCCTCCTGGATTCAAGGGATTCTCCTGCCTCAGCCTCCTCAGTAGCTGGGATTACAGGTGCACGCCACCACACCTGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACTATGTTGTCCAGGCTAGTCTCGAACTGCTGACCTCGTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCATGCCCGGCCTAATTTTTATATATTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTCACCCCAGGTGATCTGCCTGCCTCAACCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCACTGCACCATTGCCCCTGCCTTTTTTTTTTTTCTTTTTCCCTTTCAGACAGGGCCTCTCTCTGTTGTCCAGACTGGAGTGCAGTGGTGCAGTCACGGCTCACTGCAGCCTCAACCTCCCTGGGTGCAAATGATTCTCCATCTCCCACCTCCGCCTCCCGAGTAGCTAAGACCCCAGACGCCCAGCCCACAGGATCATGCCTGGCTAATTTTTTTTTTTTTAATTTTTGCTCAGGCTGGTCTTGAACTCCTGGGCCCAAGCAGTCCTCATGCCTTGGCCTCCTAAAGTGCTAGGATTACAGGCATGAGTCACCATGCCTGGCTATCCACTCATATTTAACAATTCAATATTTCAATTTGAGGAGAAAACATTCTATAAAACCTGGCTACTCTGGTTACGCTGCCTATGGGTTATCCCTGCTCTGCAAGGAGCAGTAAAAAAAAAATTTAAAGTTTTCATTTTTATTGTTATGTTGTGTGGTGTTATGTTTTTTATGTTATGTTATGTTATGTTTGTTATGTTATGTTATGTTATTTTGAGATGGAGTATCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATTTTGGCTCACTGCAACTTCCACCTCCTAGGTTCAAGCAATTCTCCTGCCTCTGCCTCCTGAGTAGCTGGGACTACAGGTGCGCACCACGACACCTGGCTAAATTTTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCTGAGCCACCACATGCAGCCAATTTAAAGATTTTAAAAGAATTCTATAAAACCTTAATCCTAAGAATGGCCTTCATACCTTCCCCTTATCTCCTGCCCCATGTTACGTTTCTTACCAGACTTAAGGGCTCATTGAAAAATTTGTTTCTTCTTTACCACTGATAACTTCATTCCAAAGAGAAGATCTCCTTTCTCTTCTGGAGTTTTACAGGTCTTTGAACTTTCTTATCTTCCTTCTTATTTAATTTATTTATTTATTGAGACAGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAGTGGTACGATCTCAGCTCGCTACAACCTCTGTCTCTGGGGTTCAAGCGATTTGTATGCCTCAGCCTCCCAAGTAGCTTGGATTACAGGCGCCCACCATCATGCCTGGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTGCTGACCTCAGGTGATCTTCCTGCCTAGACCTCCCAAAGTGCTGAGATTACAGGTGTTAGCCACCATACCCAGCCTCTTCCTTCTTAAATTCTTTATTTTCCCTCCCTTCTCCCTTTTTCTCTCCATTTTTGTTGATTGCTTAGGCTCTGGTCTTATTTCACCTAAAAAGCAGAGAATTGTTTAAATTCTAAGCTCCTGAAAGGAAGAGACTGTGTGTTGCCCGTGTCAGATGATCAATTGTGTTGCTTACTGAGTTGAGTGTTTATAGATTAGAATATATGGATCTGCTTTTTCAAAATATGTTATCTGAGCCAGATATTGTTTCTGTTTTAGAAACTATCAGTGTGGACCAGACTGTGACTCAAGTGTTCGGCTGAGACCTTATCAGGATGTCTATGTTAATGTCGTAGACCCTAAGGTATGTCTTTGTTTTGTACTTGAATATCTTTTTGGAATAAGCACCCTTCCTCAAGGTTAGATTACTAAGGAAACAATGGGTTACTTAAGTGTAGTGTTAGCCTATTAAATGTGTGGCCTGCTAGGTGTGGTAATTTCAGTACATCAGGAGGCTGAGACAGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGAGCAGCATAGTTAGACCTTGTCTTTATTAAAACTTTCCTTTTTCTTTTTTTTGAAATGGAGTATCACTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACTGGTGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCCTGCACCACCGCACCCAGCTAATTTTTGTATTTTTGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGTTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAGAGTGCTGGGATTCCAGGTAGGAGCTACCGCGTCCTGCCTACTAAAACTTTTCTAAAAGATTAGCTGGGTGTGTTGTATATGCCTGTAGTTCCAACTACGTGAAAGGCTGCAACAGGAGGATTGCTTGTGCGCTATTGCACTTCAGCCTGGGCAACAGAACAAGACCTTGTCTTGTAAAACTAAACATGTAGACCATGGGTGGTGGCCCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATGACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGAAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAACTTAGCTGGGTGTGGTGGCGCACCCCTGAAGTCCCATCTACTCGGGAGGCTGAGGCATGAGAGTCACTTGAGCCCAGGAGGCGGAGGCTGCAGTGAGTGAGCTGAGATCGTGCCACTGCACTCCAACCTGGGCAACAGCAATATCCTGTCTCAAAAAATAATAATAACTAAATAAATATGTAGCCTACATGTCATTTAGAATGTAGGCAGTATGTAGGTTGCATTTAAAACCCACCACCACTTTTCTTGAAGCTTGTCCTAACCATTTTCTGTATGTGAAACTATATGTAAAACTTTCTATTAAAATACTAACATTTTAAAATGTATTCTCATTTTTCTTCAAGAAGTGATGTTATAATAGATAAAAATTATTGTCCAGAAAGTACTATTGACATTAATAGGGAAATAAAGTACATAGGTAAGTGTCATGTTTGTGTGCCAGAATCCAGACTAAAATACAGAATGAGTCCCCCACTACCCATCACACTCAATGTGCTACAGCAGCTATAGGATCAGTTGTAGATTTACCAACTATACTGAAAAGTGTGCTTTTGCAGGATATAATTCTGTTCATCAGAGTTCTGCTACTGAATGGTCTTCCAGTAGTTTTCTTTTTTGCAATAAGTTTTTTTCCATGGTAAGTGGGCATTACCTTCTGACTATAAAGTGTGGCAAAGTAATGTCAGAGATATCATTTGATTATTCCTTTTAGGATGTGACCCTTGACCTAGTGGAATTAACTTTTAAGGATCAGTATATTGGCCGTGGGGATATGTGGCGACTAAAGAAAAGTTTGGTAAGATGTGATTTTTTTTGAAAGTCTGTTACTTTTTCCATTATGTGAATAATCCCTGTTTATTATGGGAGAAGAATATAAAATCGTTTCTGATTTTATATCAGCATCTACAGACAATTATTGTCAACGTCTTCTGTGTTCTTCCATTCTCTTTTCACTGTTCTTTTGATCTTTTGTTTACTGTTACAGATTTTTACTCAGCATTTTTGGTTTAGATAGGAAGTTATACTGTATTTTACATTGGAATAGAACCGTACTTTTCAGGTTTTCACTTTATCCCATTTGCTCCTCACATCTCCTCATGGACAGGTATTTATTATCCCTAATTTATAGAGGTAGAAACTGAGATTGAGAAGTTAGGTAATTGCCCAAGGCTAGATAGTAAGTTGAN
|
pathogenic
| 325,772 |
Located at chromosome 22 position 31766673, the variant affecting gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
benign
|
AGGCTGGTCTCGAACTGCTGACCTCAGGTGATCTTCCTGCCTAGACCTCCCAAAGTGCTGAGATTACAGGTGTTAGCCACCATACCCAGCCTCTTCCTTCTTAAATTCTTTATTTTCCCTCCCTTCTCCCTTTTTCTCTCCATTTTTGTTGATTGCTTAGGCTCTGGTCTTATTTCACCTAAAAAGCAGAGAATTGTTTAAATTCTAAGCTCCTGAAAGGAAGAGACTGTGTGTTGCCCGTGTCAGATGATCAATTGTGTTGCTTACTGAGTTGAGTGTTTATAGATTAGAATATATGGATCTGCTTTTTCAAAATATGTTATCTGAGCCAGATATTGTTTCTGTTTTAGAAACTATCAGTGTGGACCAGACTGTGACTCAAGTGTTCCGGCTGAGACCTTATCAGGATGTCTATGTTAATGTCGTAGACCCTAAGGTATGTCTTTGTTTTGTACTTGAATATCTTTTTGGAATAAGCACCCTTCCTCAAGGTTAGATTACTAAGGAAACAATGGGTTACTTAAGTGTAGTGTTAGCCTATTAAATGTGTGGCCTGCTAGGTGTGGTAATTTCAGTACATCAGGAGGCTGAGACAGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGAGCAGCATAGTTAGACCTTGTCTTTATTAAAACTTTCCTTTTTCTTTTTTTTGAAATGGAGTATCACTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACTGGTGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCCTGCACCACCGCACCCAGCTAATTTTTGTATTTTTGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGTTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAGAGTGCTGGGATTCCAGGTAGGAGCTACCGCGTCCTGCCTACTAAAACTTTTCTAAAAGATTAGCTGGGTGTGTTGTATATGCCTGTAGTTCCAACTACGTGAAAGGCTGCAACAGGAGGATTGCTTGTGCGCTATTGCACTTCAGCCTGGGCAACAGAACAAGACCTTGTCTTGTAAAACTAAACATGTAGACCATGGGTGGTGGCCCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATGACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGAAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAACTTAGCTGGGTGTGGTGGCGCACCCCTGAAGTCCCATCTACTCGGGAGGCTGAGGCATGAGAGTCACTTGAGCCCAGGAGGCGGAGGCTGCAGTGAGTGAGCTGAGATCGTGCCACTGCACTCCAACCTGGGCAACAGCAATATCCTGTCTCAAAAAATAATAATAACTAAATAAATATGTAGCCTACATGTCATTTAGAATGTAGGCAGTATGTAGGTTGCATTTAAAACCCACCACCACTTTTCTTGAAGCTTGTCCTAACCATTTTCTGTATGTGAAACTATATGTAAAACTTTCTATTAAAATACTAACATTTTAAAATGTATTCTCATTTTTCTTCAAGAAGTGATGTTATAATAGATAAAAATTATTGTCCAGAAAGTACTATTGACATTAATAGGGAAATAAAGTACATAGGTAAGTGTCATGTTTGTGTGCCAGAATCCAGACTAAAATACAGAATGAGTCCCCCACTACCCATCACACTCAATGTGCTACAGCAGCTATAGGATCAGTTGTAGATTTACCAACTATACTGAAAAGTGTGCTTTTGCAGGATATAATTCTGTTCATCAGAGTTCTGCTACTGAATGGTCTTCCAGTAGTTTTCTTTTTTGCAATAAGTTTTTTTCCATGGTAAGTGGGCATTACCTTCTGACTATAAAGTGTGGCAAAGTAATGTCAGAGATATCATTTGATTATTCCTTTTAGGATGTGACCCTTGACCTAGTGGAATTAACTTTTAAGGATCAGTATATTGGCCGTGGGGATATGTGGCGACTAAAGAAAAGTTTGGTAAGATGTGATTTTTTTTGAAAGTCTGTTACTTTTTCCATTATGTGAATAATCCCTGTTTATTATGGGAGAAGAATATAAAATCGTTTCTGATTTTATATCAGCATCTACAGACAATTATTGTCAACGTCTTCTGTGTTCTTCCATTCTCTTTTCACTGTTCTTTTGATCTTTTGTTTACTGTTACAGATTTTTACTCAGCATTTTTGGTTTAGATAGGAAGTTATACTGTATTTTACATTGGAATAGAACCGTACTTTTCAGGTTTTCACTTTATCCCATTTGCTCCTCACATCTCCTCATGGACAGGTATTTATTATCCCTAATTTATAGAGGTAGAAACTGAGATTGAGAAGTTAGGTAATTGCCCAAGGCTAGATAGTAAGTTGACTCTTGGCCAAAACCCAGATCCTGTGGCTTCCAGATCACACTGCTTTTTGCTATACCCTCTTCCCGTTTTCCACATGTATTCATTGTTTTTTTTTTTTTCTGAGATGGAGTTTCGCTCTTTCCCCAAGCTGGAGTGAAATGGTGGGATCTTGGCTTACTGTAACCTCTGTCGTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCACCCACCACCATGCCCGGCTAATTTTTTTTTGAGACGGAGTTTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCACAACCTCGGCCTTCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGCAGTAGCTGGGATTACGGGCATGCACCACCGCACCTGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGTTGGTCTCGAACTCCAGACCTCAGGCAATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCTCCCAGCTTTTTTTTTGTATTTTTAGTAGAGGTGGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTATAGGTGTGAGGCATCGTGCCCGGCCCATTTTTTAATTATTCATTTGTTTATTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATTTCTGCTCACTGCAAGCTCTGCCTCCCGGGTTCACCCATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCGTCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAGTGCACCCGGCCCCATTTTTTAAAAAAAAATATTTTTATTATATTTTAATTGTTTTTTTTTTTAATTTTTTTTTATTTCCGTGTTACTGGGGAACAGGTGGTGTTTGGTTATATGAGTAAGTTCTTTAATGGTGATTCGTGAGATTTTGATGCACCCATTACCCAAACAGTACACCACACCCACATTTATTAATTTTTTAATGAACATTTCAACTTGAAAAGATTAGTTCATCAGAATTATGAACTGGTTCTGAAAATTCTCATTTGAGGTTTTTTTTTCCATTTTGACACTAATCAAAAGAAATGAAGTTTTTGTATACTATGTAACCACAAATTATAGGTAGAATTTCCATACAGGGTATATTTTCAGGAAAAATCTGCTTAATTTTAATTTGTTGAGGGTTCCATTTTCTAAAGTGAGAGATAAAATGAGAAACAACACAATATTTAAATGAGTATGTAAATGCAGATATGTATGTAAACATATGTGAAGATGAGGATATTTGTAAAGCTGGTCATTTATCATCCACCTGGTCTTTGCTATTATCTATACTTGCCAAACTCTTTAAGCACCTACTGTCATACCTACCCTAACAGGTTTTCCTGTGGGTAAATCTATTACTCACAAGCTAGTTCAACTTTGGGTTGGTAGAAGAGATTAGAAAGCTAGGAGTTCTTGTTTGTGATT
|
AGGCTGGTCTCGAACTGCTGACCTCAGGTGATCTTCCTGCCTAGACCTCCCAAAGTGCTGAGATTACAGGTGTTAGCCACCATACCCAGCCTCTTCCTTCTTAAATTCTTTATTTTCCCTCCCTTCTCCCTTTTTCTCTCCATTTTTGTTGATTGCTTAGGCTCTGGTCTTATTTCACCTAAAAAGCAGAGAATTGTTTAAATTCTAAGCTCCTGAAAGGAAGAGACTGTGTGTTGCCCGTGTCAGATGATCAATTGTGTTGCTTACTGAGTTGAGTGTTTATAGATTAGAATATATGGATCTGCTTTTTCAAAATATGTTATCTGAGCCAGATATTGTTTCTGTTTTAGAAACTATCAGTGTGGACCAGACTGTGACTCAAGTGTTCCGGCTGAGACCTTATCAGGATGTCTATGTTAATGTCGTAGACCCTAAGGTATGTCTTTGTTTTGTACTTGAATATCTTTTTGGAATAAGCACCCTTCCTCAAGGTTAGATTACTAAGGAAACAATGGGTTACTTAAGTGTAGTGTTAGCCTATTAAATGTGTGGCCTGCTAGGTGTGGTAATTTCAGTACATCAGGAGGCTGAGACAGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGAGCAGCATAGTTAGACCTTGTCTTTATTAAAACTTTCCTTTTTCTTTTTTTTGAAATGGAGTATCACTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACTGGTGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCCTGCACCACCGCACCCAGCTAATTTTTGTATTTTTGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGTTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAGAGTGCTGGGATTCCAGGTAGGAGCTACCGCGTCCTGCCTACTAAAACTTTTCTAAAAGATTAGCTGGGTGTGTTGTATATGCCTGTAGTTCCAACTACGTGAAAGGCTGCAACAGGAGGATTGCTTGTGCGCTATTGCACTTCAGCCTGGGCAACAGAACAAGACCTTGTCTTGTAAAACTAAACATGTAGACCATGGGTGGTGGCCCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATGACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGAAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAACTTAGCTGGGTGTGGTGGCGCACCCCTGAAGTCCCATCTACTCGGGAGGCTGAGGCATGAGAGTCACTTGAGCCCAGGAGGCGGAGGCTGCAGTGAGTGAGCTGAGATCGTGCCACTGCACTCCAACCTGGGCAACAGCAATATCCTGTCTCAAAAAATAATAATAACTAAATAAATATGTAGCCTACATGTCATTTAGAATGTAGGCAGTATGTAGGTTGCATTTAAAACCCACCACCACTTTTCTTGAAGCTTGTCCTAACCATTTTCTGTATGTGAAACTATATGTAAAACTTTCTATTAAAATACTAACATTTTAAAATGTATTCTCATTTTTCTTCAAGAAGTGATGTTATAATAGATAAAAATTATTGTCCAGAAAGTACTATTGACATTAATAGGGAAATAAAGTACATAGGTAAGTGTCATGTTTGTGTGCCAGAATCCAGACTAAAATACAGAATGAGTCCCCCACTACCCATCACACTCAATGTGCTACAGCAGCTATAGGATCAGTTGTAGATTTACCAACTATACTGAAAAGTGTGCTTTTGCAGGATATAATTCTGTTCATCAGAGTTCTGCTACTGAATGGTCTTCCAGTAGTTTTCTTTTTTGCAATAAGTTTTTTTCCATGGTAAGTGGGCATTACCTTCTGACTATAAAGTGTGGCAAAGTAATGTCAGAGATATCATTTGATTATTCCTTTTAGGATGTGACCCTTGACCTAGTGGAATTAACTTTTAAGGATCAGTATATTGGCCGTGGGGATATGTGGCGACTAAAGAAAAGTTTGGTAAGGTGATTTTTTTTGAAAGTCTGTTACTTTTTCCATTATGTGAATAATCCCTGTTTATTATGGGAGAAGAATATAAAATCGTTTCTGATTTTATATCAGCATCTACAGACAATTATTGTCAACGTCTTCTGTGTTCTTCCATTCTCTTTTCACTGTTCTTTTGATCTTTTGTTTACTGTTACAGATTTTTACTCAGCATTTTTGGTTTAGATAGGAAGTTATACTGTATTTTACATTGGAATAGAACCGTACTTTTCAGGTTTTCACTTTATCCCATTTGCTCCTCACATCTCCTCATGGACAGGTATTTATTATCCCTAATTTATAGAGGTAGAAACTGAGATTGAGAAGTTAGGTAATTGCCCAAGGCTAGATAGTAAGTTGACTCTTGGCCAAAACCCAGATCCTGTGGCTTCCAGATCACACTGCTTTTTGCTATACCCTCTTCCCGTTTTCCACATGTATTCATTGTTTTTTTTTTTTTCTGAGATGGAGTTTCGCTCTTTCCCCAAGCTGGAGTGAAATGGTGGGATCTTGGCTTACTGTAACCTCTGTCGTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCACCCACCACCATGCCCGGCTAATTTTTTTTTGAGACGGAGTTTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCACAACCTCGGCCTTCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGCAGTAGCTGGGATTACGGGCATGCACCACCGCACCTGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGTTGGTCTCGAACTCCAGACCTCAGGCAATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCTCCCAGCTTTTTTTTTGTATTTTTAGTAGAGGTGGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTAGGATTATAGGTGTGAGGCATCGTGCCCGGCCCATTTTTTAATTATTCATTTGTTTATTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATTTCTGCTCACTGCAAGCTCTGCCTCCCGGGTTCACCCATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCGTCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAGTGCACCCGGCCCCATTTTTTAAAAAAAAATATTTTTATTATATTTTAATTGTTTTTTTTTTTAATTTTTTTTTATTTCCGTGTTACTGGGGAACAGGTGGTGTTTGGTTATATGAGTAAGTTCTTTAATGGTGATTCGTGAGATTTTGATGCACCCATTACCCAAACAGTACACCACACCCACATTTATTAATTTTTTAATGAACATTTCAACTTGAAAAGATTAGTTCATCAGAATTATGAACTGGTTCTGAAAATTCTCATTTGAGGTTTTTTTTTCCATTTTGACACTAATCAAAAGAAATGAAGTTTTTGTATACTATGTAACCACAAATTATAGGTAGAATTTCCATACAGGGTATATTTTCAGGAAAAATCTGCTTAATTTTAATTTGTTGAGGGTTCCATTTTCTAAAGTGAGAGATAAAATGAGAAACAACACAATATTTAAATGAGTATGTAAATGCAGATATGTATGTAAACATATGTGAAGATGAGGATATTTGTAAAGCTGGTCATTTATCATCCACCTGGTCTTTGCTATTATCTATACTTGCCAAACTCTTTAAGCACCTACTGTCATACCTACCCTAACAGGTTTTCCTGTGGGTAAATCTATTACTCACAAGCTAGTTCAACTTTGGGTTGGTAGAAGAGATTAGAAAGCTAGGAGTTCTTGTTTGTGATTNN
|
benign
| 325,780 |
The genetic variant at chromosome 22, position 31797616, affecting gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Familial_focal_epilepsy_with_variable_foci', 'Inborn_genetic_diseases']
|
ATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAATGCTGGCATGAGCCACCACGCCTGACCCATATGGTTCTCTTTTTATATGTTTTAAACCTTCATTTTCTTTCATTTCCTTTTTTTTTTTTTGAGTCGGAGTTTCGCTCTTGTTGCCCAGTCTGGAGTGCAATGACACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGATGCAAGCGATTCTCTTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATATTGGTCAGTCTGATCTCAAACTCCCGACCTCAGGTGATCCCCCCACCTTGGCCTCTCCAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCATAAACCTTCATTTTCTATTTACTGTATCACAAATGCCAATCCATGTTAAACACACTGCTCCACAGTATCTTTTTTTTTTTTTTTTTTTGAGGCGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTTGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTATCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTTTGTATTTTTTAGTGGAGACAGGGTTTCACCGTGTTAGCCAGAATGGTCTCTATCTCCTGACCTCATGATCTGCCTGCTTAGGCCTCCCAGAGTGCTGGGATTACAGGCGTTAGCCACTGCCTGGCCCACTGTATCATTTTTTATTTCTACATAGAAATTACATTGGGTTACTATTGTTGAAAATTGAGGTGACTTCCAGCTTTTCACTATTCTCAACAGTATTGCCAGTGAACATTTTTACAGATAGGTTTTTAAGCATATCCTTAGTTTTTATGATAAATTGCCAGAAATGGAGCCATTAGGTCAAAGGATAGTCTGTGTTTTCAAGGCTTTCTATTTGTACAGCCAGTGTATGCTCCAAAACCATTAAAGTAGAAGATCTTGTTTTCCTAGCAGCAATTTCTGTGTTCTCACCAACAGTGAGTGCTCTTTTTTTTTTTGAGATGGAGTCTCGCTCTTTCTCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGAAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCACCTTATCCACCTGCCTGGGCCTCCCAAAGTACTGGAATTACAAGTATGAGCTACCATGCCCAGCCTCTTTTTTTTTTTTTTTTAATGCTTCTTTCCCAATTGGATTGGAAGAAAAACAAGCTCACTGAATCTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCAAGGCTGGAGTGCAGTGGGGTTATCTCAGCTCACTGTACTCCAATTACACTCTTTTTGAAACCTTGTAAAGAACCTGATGTTCTGTATGTAAAGTTGCTGTATTAGTCCATTTTCTCACTGCTGTAAAGACATACCCAAGACTGGGTAATTTATAAAGAAAAAAGGTTTAATTGACTCATGGTTCTGCATGGCTCAGGAGGCCTCTGGAAACTTACAATCCTGGTGGAAGGCGAAGGGGAAGCAAGGCATGTCTTACCATGGTGAAGCAGGAGAAAGAGCGAGCTCAGGGGAAACTGCCCCTTTTAAACCATCAGATATCGTGAGAACTCCCTCACTATCACAAGAACAGCATGGAGGAAACCACCCCCATGATCCAGTCACCTCCCACCAGGTTCCTCCCTCGACACATGGGTATTACAATTTGAGATGAAATTTGGGAGGGGACACAGAGCCAAACCATATCAGCTGCTCAATATCCATTTTATGATAATACTCTTTTCAGAGTGGTGGTGCAGAATGAGAGAAGAGAAGAATGGACTTCACTTCTCGTAACCATTAAAAAACTCTTCATCCAGTATCCAGTGTTGGTGCGACTGGAACAGGCAGGTACTGCATTCATGTAATAGATGGTGCGGCGGGGAAAGGAAGTGTAGGAGGGGTCTGGGAGACAGAGAAGAGATGTGTGCTTGTTTCTCTCCCATTGCCGTGTGTAGTTTCTGCTTTTGGTCAGGGTTCTGTTTCCAGTTGGATCCAATTGTACATTTCGTATGCCGTAAGTTCAACAGTGTCCCTAATACAGGGAGTGAGGCCTTGTGGAGCCAGATGCCTTCCTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGACTGGAGTGGAGCAATTATACTGTAACTTTAAACCACTGGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCGGGTAGCTAGGACGACAGGCATGCACTACCATGCCCAGATAATTTTTTCATTTTTTTGTAGAGACAAGAGTCTCGCTGTGTTGACCAGGCTTGTTTCAAACTCCTCGTCTTAAGCGATCTTCCTGCCTCCACCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCTCAGCTGCCACTTATTTAAGAGTTCATCTTTCAGCCAGGTGTGATGTCTCATGCCTGTAATCCCAGCACAAGGCAGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCTTGTGTGGTGGCGTGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCTGCTCCACTCCAGCCTGGGTGACACAGCAAGGCTTCGTTTAAAATTAAAAAAAAAAGTTCATGTTTCATGAGATGTTTTTCTTTCTCTTGCATATTTTGCTTCAGAGGGCTTTCCTCAAGGAGATAATTCTACCTCAGCACAAGGAAACTACCTGGAGGCCATCAATCTGTCATTCAATGGTGAGTAAGGATGCCGGCCATGAGCCAGCATCTTGCCTACCACATGGCTATGTTACCGGAAAGGTGTCCTGATCCAGACCCTAAGAGAAGGTTCTTGGATCTTGCAGAAGAAAGAATTCAGGACCAGTCCACAGAATAAAGTGAAAGCAAGTATATTAAGAAAGTAAAGGAATAAAAGAATAGCTACTCCATAGAAAGAGCAGGGCATTCCCGAAAGCAAGAGGAGGAACACGTCCACCTTAGGTACAGTGGTTGTTTATATATAACAAAGCAAAAAGTCATGGGGGAGAGATGCTCTGCCGCAAGCACTCATGACAAAGGATTGTTCATCTTTGTGTAACTGCTGTCTTTCTCAAGAATCTATATTATTATCTTTAAAGCAAACTTACTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGATGCGATCTTGGCTCACTGAAACCTCCCACTCCTGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTATCTGGGATTACAGGTGCGCATCACCACGCCCAGCTAATTTTGTATATTTTTAGGAGACACGGGGTTTCACCATGTTGGCCAGCATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGCATGAGCCACAGCACCTGGCCTTTTTTTTTTTTAAATATACTTTAAATTCTGGGATACACGTGCAGAATGTGCAGGTTTGTTACATAGATATACGTGTGCCATGGTGGTTTGCTGCACCTATCAACCCATCATCTGCATTAGGTATTTCTCTTAATGCTATTTTTTTTTTTTTTTTTCTGGGATGGAGTGTCGCTTTGTCATCCAGGCTGGAATGTAGTGGTGCAATCTTGACTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCCCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGTGCACCACCATGCCCG
|
ATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAATGCTGGCATGAGCCACCACGCCTGACCCATATGGTTCTCTTTTTATATGTTTTAAACCTTCATTTTCTTTCATTTCCTTTTTTTTTTTTTGAGTCGGAGTTTCGCTCTTGTTGCCCAGTCTGGAGTGCAATGACACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGATGCAAGCGATTCTCTTGCCTCAGCCTCTCGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTGATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATATTGGTCAGTCTGATCTCAAACTCCCGACCTCAGGTGATCCCCCCACCTTGGCCTCTCCAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCATAAACCTTCATTTTCTATTTACTGTATCACAAATGCCAATCCATGTTAAACACACTGCTCCACAGTATCTTTTTTTTTTTTTTTTTTTGAGGCGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTTGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTATCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTTTGTATTTTTTAGTGGAGACAGGGTTTCACCGTGTTAGCCAGAATGGTCTCTATCTCCTGACCTCATGATCTGCCTGCTTAGGCCTCCCAGAGTGCTGGGATTACAGGCGTTAGCCACTGCCTGGCCCACTGTATCATTTTTTATTTCTACATAGAAATTACATTGGGTTACTATTGTTGAAAATTGAGGTGACTTCCAGCTTTTCACTATTCTCAACAGTATTGCCAGTGAACATTTTTACAGATAGGTTTTTAAGCATATCCTTAGTTTTTATGATAAATTGCCAGAAATGGAGCCATTAGGTCAAAGGATAGTCTGTGTTTTCAAGGCTTTCTATTTGTACAGCCAGTGTATGCTCCAAAACCATTAAAGTAGAAGATCTTGTTTTCCTAGCAGCAATTTCTGTGTTCTCACCAACAGTGAGTGCTCTTTTTTTTTTTGAGATGGAGTCTCGCTCTTTCTCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGAAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCACCTTATCCACCTGCCTGGGCCTCCCAAAGTACTGGAATTACAAGTATGAGCTACCATGCCCAGCCTCTTTTTTTTTTTTTTTTAATGCTTCTTTCCCAATTGGATTGGAAGAAAAACAAGCTCACTGAATCTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCAAGGCTGGAGTGCAGTGGGGTTATCTCAGCTCACTGTACTCCAATTACACTCTTTTTGAAACCTTGTAAAGAACCTGATGTTCTGTATGTAAAGTTGCTGTATTAGTCCATTTTCTCACTGCTGTAAAGACATACCCAAGACTGGGTAATTTATAAAGAAAAAAGGTTTAATTGACTCATGGTTCTGCATGGCTCAGGAGGCCTCTGGAAACTTACAATCCTGGTGGAAGGCGAAGGGGAAGCAAGGCATGTCTTACCATGGTGAAGCAGGAGAAAGAGCGAGCTCAGGGGAAACTGCCCCTTTTAAACCATCAGATATCGTGAGAACTCCCTCACTATCACAAGAACAGCATGGAGGAAACCACCCCCATGATCCAGTCACCTCCCACCAGGTTCCTCCCTCGACACATGGGTATTACAATTTGAGATGAAATTTGGGAGGGGACACAGAGCCAAACCATATCAGCTGCTCAATATCCATTTTATGATAATACTCTTTTCAGAGTGGTGGTGCAGAATGAGAGAAGAATGGACTTCACTTCTCGTAACCATTAAAAAACTCTTCATCCAGTATCCAGTGTTGGTGCGACTGGAACAGGCAGGTACTGCATTCATGTAATAGATGGTGCGGCGGGGAAAGGAAGTGTAGGAGGGGTCTGGGAGACAGAGAAGAGATGTGTGCTTGTTTCTCTCCCATTGCCGTGTGTAGTTTCTGCTTTTGGTCAGGGTTCTGTTTCCAGTTGGATCCAATTGTACATTTCGTATGCCGTAAGTTCAACAGTGTCCCTAATACAGGGAGTGAGGCCTTGTGGAGCCAGATGCCTTCCTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGACTGGAGTGGAGCAATTATACTGTAACTTTAAACCACTGGGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCGGGTAGCTAGGACGACAGGCATGCACTACCATGCCCAGATAATTTTTTCATTTTTTTGTAGAGACAAGAGTCTCGCTGTGTTGACCAGGCTTGTTTCAAACTCCTCGTCTTAAGCGATCTTCCTGCCTCCACCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCTCAGCTGCCACTTATTTAAGAGTTCATCTTTCAGCCAGGTGTGATGTCTCATGCCTGTAATCCCAGCACAAGGCAGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCTTGTGTGGTGGCGTGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCTGCTCCACTCCAGCCTGGGTGACACAGCAAGGCTTCGTTTAAAATTAAAAAAAAAAGTTCATGTTTCATGAGATGTTTTTCTTTCTCTTGCATATTTTGCTTCAGAGGGCTTTCCTCAAGGAGATAATTCTACCTCAGCACAAGGAAACTACCTGGAGGCCATCAATCTGTCATTCAATGGTGAGTAAGGATGCCGGCCATGAGCCAGCATCTTGCCTACCACATGGCTATGTTACCGGAAAGGTGTCCTGATCCAGACCCTAAGAGAAGGTTCTTGGATCTTGCAGAAGAAAGAATTCAGGACCAGTCCACAGAATAAAGTGAAAGCAAGTATATTAAGAAAGTAAAGGAATAAAAGAATAGCTACTCCATAGAAAGAGCAGGGCATTCCCGAAAGCAAGAGGAGGAACACGTCCACCTTAGGTACAGTGGTTGTTTATATATAACAAAGCAAAAAGTCATGGGGGAGAGATGCTCTGCCGCAAGCACTCATGACAAAGGATTGTTCATCTTTGTGTAACTGCTGTCTTTCTCAAGAATCTATATTATTATCTTTAAAGCAAACTTACTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGATGCGATCTTGGCTCACTGAAACCTCCCACTCCTGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTATCTGGGATTACAGGTGCGCATCACCACGCCCAGCTAATTTTGTATATTTTTAGGAGACACGGGGTTTCACCATGTTGGCCAGCATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTATAGGCATGAGCCACAGCACCTGGCCTTTTTTTTTTTTAAATATACTTTAAATTCTGGGATACACGTGCAGAATGTGCAGGTTTGTTACATAGATATACGTGTGCCATGGTGGTTTGCTGCACCTATCAACCCATCATCTGCATTAGGTATTTCTCTTAATGCTATTTTTTTTTTTTTTTTTCTGGGATGGAGTGTCGCTTTGTCATCCAGGCTGGAATGTAGTGGTGCAATCTTGACTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCCCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGTGCACCACCATGCCCGNNNNN
|
pathogenic
| 325,801 |
Clinical classification of chromosome 22, position 31802771, gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Epilepsy,_familial_focal,_with_variable_foci_1', 'Familial_focal_epilepsy_with_variable_foci', 'Intellectual_disability']
|
TCCCAGCACTTTGGGAGGTTGAGGCGGACAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGCATGGTGGCGCACACCTGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGCGAGCAGAGATCACGCCGCTGCACTCCAACCTGGTTGATAGAAAAAGACACTATCTCAAAAAAAAATTCTTTTTTTTTTTTTTAAATAAATAGGCTGGCTGCAGTGGCTGACACCTGTAATACCAGCACTTTCGGAGGCTTAGGCAGCGGGATCACCTGAGGTCAGGAGCTCAAGAGCAGCCTGGCCAACATGGCGAAACCCCATCTTTACTAAAAATACATAAAAAACTTGCCAGGCATGGTGGTGCATGCCTGTCATACCAGCTACTTGGGAGGCTGAGGCAGGAAAATCACTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCATTCCAGCCTGGGTGATGGAGTTAGACTGTCTCAAATAAATGAATAAATAAATAATAAATAAAATTGTAAAAGTAACCATGTTACTAGAATTTGAATATGGAGAGGTATATCAAGTAAAAAATGATACCCTTCTCCTGCTCCCCAGTGTGAGTCCTTTTTTAAGGGGAACCATTGTTAGCAGTGTGGTATGATTATCCCGGCATTTATGTGTTAGCCGAAATATATTGTTTGCAAATAACAGAGATGTACTGATTTAGTTTAAACAAAAAGCGAAATTTACTGTAAGGATACAGAGGCTTAAATGGAGCAGCCAGGAAAGGCTCAAACACCATGTCGAAGAACCTTAGTGGCTCTGGGAACCATAGCAGCAGGAATTATGAGAGCCATATTTCAGCTTCCAGCAACCCTGTCTCTGCTCTCTGTTCAGAATTTACATTCCTGGTAGAGAGGGTCTGATCTGTTCAGCTCCAGTTAGGTGTCCATCTGCCACTGGCCAGAGGTGGAAGTGATGATACGCGTACACATCACTATGTATATCATCTTCCCACATGTCTGTACCCAGGTGCTCAGGGAATTCTAGAGCATAATGTCTTCTATTAGTAAATCTTCTTGTCATATTGGAATATCACTGATTTTTCATAGTAAGAATCATAGAGGCTAGAAATAAAAAGTGACTTGCCAGATTTACAAAGTCATCCCAAGATTTTGGTCTACTCTTTTAAATAGTGTCTTAAATTAATACTAATATAATCTAATTATATCATTAATATATATAATATTAAAATAATATATAATATATAAAATAATATAATCAAAGTTTTACTACAGATTCATTTATGGAAGGTTTAAATTAACAGCATGAATTTTTTTTTTTTTTTTTTTTTTTTAGACAGGTTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGCACGATCTTGGCTCACTGCGCCTCTGCCTCCTGGGTTCAAGTGATTCTCCCATCTCAGCCTCCCACATAGCTGGGATTACAGGTGCACATCACCATGCCTGGCTAATTTTTGTATTTTTTGGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGATTTCAAGTGATCCGCCTGCTTTGGCCTCCCAAAGTGCTGGGATTTCAGGCATGAGCCACCATACCCAGCCCTCACAGCATGAAATTTGAGCATTTAAGGCTGCACAGGGCAAGTATGAGGTGTCAATGAGGGGTATTAACAAAGGTGACAGCGACTTATTCCTGTGGTCAAGTAGTTCTTAATATGGAAGAGAAAAGACAGATGCGTATACATTTAACTAGAATGTGGCAGTTGCTATAATAAAAATATGGGCAGAATGCTCTGAGAGTGTAGAGATGCTTGTCTGTGACAGGGTTCTGAAAAGCTGTAACATCATTATTGTGGAATTTTTGTTTTATTTCTAGTGTTTGATAAGCACTACATCAACCGCAACTTTGACCGAACTGGGCAGATGTCAGTGGTGATCACGCCCGGGGTGGGTGTCTTTGAAGTGGACCGCCTACTCATGATCCTGACCAAGCAGCGGATGATAGATAATGGTAATGCTCTCTGGTTTGTGCCCTGTCTCCACATGTTCCTAGCCTGATTTCCCCTTAGAACTGTGAGCTTCACTGACTTCTTAGAGTGTGAGGAGCTCTACATAGTGTTCTGTGTGTCACAACGTCTGTGGATGTCAATAGGTGTCAGGTGCTAAAATTTCATGGTCAAATCAGTTTGGGAAATGCTGGGTCATGCAAAGATAAGCAGGTTCCATAATGACAGGTCTTCCTCAGTTTTTAATATGTTAGTGTAGGTTGTTTTTCTCTAAAGGTTGTGTCAGGGTACTCTGAGTTCCCCAAACATATTTGGCACTAGAGAAGCCTTCCTGGAGGGATGATTTCAAGGGACCCATGTGCTGTCAGCCGATTTTCTTTCTTTCTTTTTTTTTTTAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATCCGCCACCATGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGGTGGAGCTTCTCCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGTCTTGGCCTCCCAAAGTTCTAGGATTGCAGGCATGAGCCACCACACCCAGCCGCTGTCAGCCCATTTTCAGATGCACTATCAGGTCATCTAGTCCAGTCCTTCCTCCATGATGTGCCTCGTATCCCCAACTCAGCCCCACACCCCCCAATTTGATTTGTTTCATCAACAAGATGGAGTTGGGACGCTGAGGCAGTAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGTGATCTCACGCCACTGCATGTCAGCCTGGGCAGCAGAGCAAGACTGTCAAAAAAAAAAAGGAGTTTGGAAAGTAAATCCTGATGCCACTAAAGAAGCTCTGTTAAGTGATGTGGATTGTTTTACTTTTTACTGAGATATTACAAAGTTACTGTTCCTTTCTGGCCTTAAAAATTTAAACATGGAAGTTTGGTTGTCTTTTTTTAAACAAGTCATGACCTGTAGGACAGTCAAAGGCTAATTGTCAAGCACCGAATAATGATACGTTAGTAGGGCACTTGGAAAAGAGGAAACAGACAAAATGAATGTATTTACTTCTTTGTTGGATAGGCAGCACTATGAGGTTATAAATCATACAATGGTAAGTTAGCTTTGCCTACTACCCATTTAAATAACATGATTTATAGATAGGGACACTTGTCTCTGCCATTCCCTCCCCACAATTCTTTTTGTCTTTTCTTTTTTTAGGAATTGGTGTGGATTTGGTGTGCATGGGAGAGCAACCGTTACATGCTGTCCCATTGTTCAAGGTAATTAGATTTCGGATTTGTTTACTAAAGGCCAGTTGGAGTATAGTTAGAAAGAGAAAAATTCCAGGCGCTGTGGCATGCACTTATAGTCCCACTTACTCGAGAGGCTGAAGTGGGAAGATCCCTTAAGCCTAGGAGTTTCGGTATAGTTTGCTATGAACATGCCTATGAATAACCACTGCACTCCAGCCTGGGCAGCAAAGCAAGACTCTATCTCTAAAAAAATTATTTTTGAGACGATGTCTTGTTCTTGTCCTCCAGGCTGGAGTGCAATGGTGCGATGTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAATCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTATGATTACAGGCGCCTGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACACCTGATTGCAGGTGGTCCGCCCGCCTTGGCCTCCCAAATTGCTGGGATTACAGGCATGACCCACAGCGCCCAGCCCTAAAAAATTTTTTTTAAAAACCTGAAAAACAGAAAAGTTAGAGCAGTTCCAAAACCTACTTGTTCTGTAGCTTATCTG
|
TCCCAGCACTTTGGGAGGTTGAGGCGGACAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGCATGGTGGCGCACACCTGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGTGGCGAGCAGAGATCACGCCGCTGCACTCCAACCTGGTTGATAGAAAAAGACACTATCTCAAAAAAAAATTCTTTTTTTTTTTTTTAAATAAATAGGCTGGCTGCAGTGGCTGACACCTGTAATACCAGCACTTTCGGAGGCTTAGGCAGCGGGATCACCTGAGGTCAGGAGCTCAAGAGCAGCCTGGCCAACATGGCGAAACCCCATCTTTACTAAAAATACATAAAAAACTTGCCAGGCATGGTGGTGCATGCCTGTCATACCAGCTACTTGGGAGGCTGAGGCAGGAAAATCACTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCATTCCAGCCTGGGTGATGGAGTTAGACTGTCTCAAATAAATGAATAAATAAATAATAAATAAAATTGTAAAAGTAACCATGTTACTAGAATTTGAATATGGAGAGGTATATCAAGTAAAAAATGATACCCTTCTCCTGCTCCCCAGTGTGAGTCCTTTTTTAAGGGGAACCATTGTTAGCAGTGTGGTATGATTATCCCGGCATTTATGTGTTAGCCGAAATATATTGTTTGCAAATAACAGAGATGTACTGATTTAGTTTAAACAAAAAGCGAAATTTACTGTAAGGATACAGAGGCTTAAATGGAGCAGCCAGGAAAGGCTCAAACACCATGTCGAAGAACCTTAGTGGCTCTGGGAACCATAGCAGCAGGAATTATGAGAGCCATATTTCAGCTTCCAGCAACCCTGTCTCTGCTCTCTGTTCAGAATTTACATTCCTGGTAGAGAGGGTCTGATCTGTTCAGCTCCAGTTAGGTGTCCATCTGCCACTGGCCAGAGGTGGAAGTGATGATACGCGTACACATCACTATGTATATCATCTTCCCACATGTCTGTACCCAGGTGCTCAGGGAATTCTAGAGCATAATGTCTTCTATTAGTAAATCTTCTTGTCATATTGGAATATCACTGATTTTTCATAGTAAGAATCATAGAGGCTAGAAATAAAAAGTGACTTGCCAGATTTACAAAGTCATCCCAAGATTTTGGTCTACTCTTTTAAATAGTGTCTTAAATTAATACTAATATAATCTAATTATATCATTAATATATATAATATTAAAATAATATATAATATATAAAATAATATAATCAAAGTTTTACTACAGATTCATTTATGGAAGGTTTAAATTAACAGCATGAATTTTTTTTTTTTTTTTTTTTTTTTAGACAGGTTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGCACGATCTTGGCTCACTGCGCCTCTGCCTCCTGGGTTCAAGTGATTCTCCCATCTCAGCCTCCCACATAGCTGGGATTACAGGTGCACATCACCATGCCTGGCTAATTTTTGTATTTTTTGGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGATTTCAAGTGATCCGCCTGCTTTGGCCTCCCAAAGTGCTGGGATTTCAGGCATGAGCCACCATACCCAGCCCTCACAGCATGAAATTTGAGCATTTAAGGCTGCACAGGGCAAGTATGAGGTGTCAATGAGGGGTATTAACAAAGGTGACAGCGACTTATTCCTGTGGTCAAGTAGTTCTTAATATGGAAGAGAAAAGACAGATGCGTATACATTTAACTAGAATGTGGCAGTTGCTATAATAAAAATATGGGCAGAATGCTCTGAGAGTGTAGAGATGCTTGTCTGTGACAGGGTTCTGAAAAGCTGTAACATCATTATTGTGGAATTTTTGTTTTATTTCTAGTGTTTGATAAGCACTACATCAACCGCAACTTTGACCGAACTGGGCAGATGTCAGTGGTGATCACGCCCGGGTGGGTGTCTTTGAAGTGGACCGCCTACTCATGATCCTGACCAAGCAGCGGATGATAGATAATGGTAATGCTCTCTGGTTTGTGCCCTGTCTCCACATGTTCCTAGCCTGATTTCCCCTTAGAACTGTGAGCTTCACTGACTTCTTAGAGTGTGAGGAGCTCTACATAGTGTTCTGTGTGTCACAACGTCTGTGGATGTCAATAGGTGTCAGGTGCTAAAATTTCATGGTCAAATCAGTTTGGGAAATGCTGGGTCATGCAAAGATAAGCAGGTTCCATAATGACAGGTCTTCCTCAGTTTTTAATATGTTAGTGTAGGTTGTTTTTCTCTAAAGGTTGTGTCAGGGTACTCTGAGTTCCCCAAACATATTTGGCACTAGAGAAGCCTTCCTGGAGGGATGATTTCAAGGGACCCATGTGCTGTCAGCCGATTTTCTTTCTTTCTTTTTTTTTTTAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATCCGCCACCATGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGGTGGAGCTTCTCCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGTCTTGGCCTCCCAAAGTTCTAGGATTGCAGGCATGAGCCACCACACCCAGCCGCTGTCAGCCCATTTTCAGATGCACTATCAGGTCATCTAGTCCAGTCCTTCCTCCATGATGTGCCTCGTATCCCCAACTCAGCCCCACACCCCCCAATTTGATTTGTTTCATCAACAAGATGGAGTTGGGACGCTGAGGCAGTAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCCGTGATCTCACGCCACTGCATGTCAGCCTGGGCAGCAGAGCAAGACTGTCAAAAAAAAAAAGGAGTTTGGAAAGTAAATCCTGATGCCACTAAAGAAGCTCTGTTAAGTGATGTGGATTGTTTTACTTTTTACTGAGATATTACAAAGTTACTGTTCCTTTCTGGCCTTAAAAATTTAAACATGGAAGTTTGGTTGTCTTTTTTTAAACAAGTCATGACCTGTAGGACAGTCAAAGGCTAATTGTCAAGCACCGAATAATGATACGTTAGTAGGGCACTTGGAAAAGAGGAAACAGACAAAATGAATGTATTTACTTCTTTGTTGGATAGGCAGCACTATGAGGTTATAAATCATACAATGGTAAGTTAGCTTTGCCTACTACCCATTTAAATAACATGATTTATAGATAGGGACACTTGTCTCTGCCATTCCCTCCCCACAATTCTTTTTGTCTTTTCTTTTTTTAGGAATTGGTGTGGATTTGGTGTGCATGGGAGAGCAACCGTTACATGCTGTCCCATTGTTCAAGGTAATTAGATTTCGGATTTGTTTACTAAAGGCCAGTTGGAGTATAGTTAGAAAGAGAAAAATTCCAGGCGCTGTGGCATGCACTTATAGTCCCACTTACTCGAGAGGCTGAAGTGGGAAGATCCCTTAAGCCTAGGAGTTTCGGTATAGTTTGCTATGAACATGCCTATGAATAACCACTGCACTCCAGCCTGGGCAGCAAAGCAAGACTCTATCTCTAAAAAAATTATTTTTGAGACGATGTCTTGTTCTTGTCCTCCAGGCTGGAGTGCAATGGTGCGATGTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAATCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTATGATTACAGGCGCCTGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACACCTGATTGCAGGTGGTCCGCCCGCCTTGGCCTCCCAAATTGCTGGGATTACAGGCATGACCCACAGCGCCCAGCCCTAAAAAATTTTTTTTAAAAACCTGAAAAACAGAAAAGTTAGAGCAGTTCCAAAACCTACTTGTTCTGTAGCTTATCTGN
|
pathogenic
| 325,813 |
The mutation in gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit) at chromosome 22, position 31806103—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
GTAAGTTAGCTTTGCCTACTACCCATTTAAATAACATGATTTATAGATAGGGACACTTGTCTCTGCCATTCCCTCCCCACAATTCTTTTTGTCTTTTCTTTTTTTAGGAATTGGTGTGGATTTGGTGTGCATGGGAGAGCAACCGTTACATGCTGTCCCATTGTTCAAGGTAATTAGATTTCGGATTTGTTTACTAAAGGCCAGTTGGAGTATAGTTAGAAAGAGAAAAATTCCAGGCGCTGTGGCATGCACTTATAGTCCCACTTACTCGAGAGGCTGAAGTGGGAAGATCCCTTAAGCCTAGGAGTTTCGGTATAGTTTGCTATGAACATGCCTATGAATAACCACTGCACTCCAGCCTGGGCAGCAAAGCAAGACTCTATCTCTAAAAAAATTATTTTTGAGACGATGTCTTGTTCTTGTCCTCCAGGCTGGAGTGCAATGGTGCGATGTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAATCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTATGATTACAGGCGCCTGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACACCTGATTGCAGGTGGTCCGCCCGCCTTGGCCTCCCAAATTGCTGGGATTACAGGCATGACCCACAGCGCCCAGCCCTAAAAAATTTTTTTTAAAAACCTGAAAAACAGAAAAGTTAGAGCAGTTCCAAAACCTACTTGTTCTGTAGCTTATCTGTGCTCTCATTTTTCTCCTTGCAGCTCCATAATCGGAGTGCTCCCCGTGATTCTCGTCTGGGCGATGACTATAATATCCCTCACTGGATAAACCACAGGTGGGTGCGATCTCGATCAATAGTAGGTGATAAGCGTTTTGAACAGCTTCCTTGCCATTTTTCTTTAAATCTGTTAAGTTCTTATTATGGCACTAAACCTTTTGTTAAGAAAATGTGGAAACCAAGTTCTAACATTTGCTCAAAGCTCTGTACACACAAAGCAGTAGCAGTATCATAGGAACAGTCTATGGTGAAAAAGAATAAAAACAAAATTTGAAGGACTTACTTCCTCTGCAGTTCCCATGTCCTTCTATTCCCAACTCCCACAGACTGTAGAAGACCAACATTTGTACCTGACCTCCTTCAGCTCTAGAGAAGTCCCCGCGCCTCTTTACATGGAATCCTGCTGATTCCAGCTCAGGGATGGCTTTTCTCATCCCTCTGCCAGTGCCAGTGCCTCATCTTTTTGAACTATGACACTAATCTTATTCCACCTACCCTTCTCCTGAAAATGCCTATTTTCTTCCAAGATCCAACTCCAGCATCTCTCTTTTATGAATTCCTCCTGTGCTGCCCTGATAGCTAACAGCCACTTTTTCTTCAGTGCTTCCAGAGCATTCTATCCTTCTCTGGGTTGTCTTTCTTTCTTTCTTTTTTTTTTTTAAGACGGAGTTTCACTCTGTCACCCAGGCTGGAGTGCAGTGACATGATCTTGGCTCACTGCAACCTCCACCACCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCTGCGTAGTTGGGATTACAGGTGCCTGCCGCCACGCCCGGCTAATTTTTGTATTTTTAGTAGAAACGAGATTTCACTGTGTTGGCCAACCTGGTCTTGAATAGCAAGTTCATGGCAAAGCTGCAGCTATTAGTTTATACTATTTGATATCATGATATTAGACTGTTTTTGACCTACAAAAGTAGCAATTTCAGGCCGGTCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGATGCTGAGGTGGGAGGAATGCTTGAGGCCAGGAGTTTGAAACCATTTTGGTCAGTGTAGCCAGACTCTGTCTCTACCAAAAAACAAAACATAACTAATGTTTTGTAGTGAATTCTTGTAAAAGAAGTTAAAATTGGGAAGATTAGTGAAGCTGAGAACAAAGCCCATGTCAGGAGGGCTGATCCATGCCTAGTATTTTAACTGTGTTTTGAGTTTTAAAATAAAGGGAATTTAGATTAATGACTCTGTTTGTTTCTTTTACAGTTTCTACACATCCAAAAGCCAGCTCTTTTGTAATAGTTTCACCCCACGAATAAAACTGGCAGGAAAGAAGGTAGGTTTTTATTTTTGTTAAGACGGGGTCTTATTATGTGGTCCAGTCTTATCTTGAGCTCCTGGACTCAATCAGTCCTCCTGTTTCAGCCTCCCAAAGTGTTGGGATTACAGACATGAGCCATTCTGCCCAGCCAAGAAGGTAGATTTCATTAATCAGCAGAGAGCCTTTGTGGACTATCACGCATTGATAGGGTTATTTTAGTCCTGAGGTACCCTCATCTTTCCCAATGGCCATGAACAGGGTTAAGAAATTCATCCCCAAACTTTATAACTTTATACATTAGATAAATAAATAACAAGGCCAAGGCCAGACTGCGTGAAATACCTTTGAGAAAAATATGACCAAGACCAAGAGTTCATTTTTTGTTTGTTTGTTTAAGAGTTCGTTTTATTGTGACCTGACTGTTTTATTCAGATGTTGAAGCCACTCAGATACCAGTGGGGATAAAGACAAAGATGCAGATATGCATTGCAGCAAAGGGGAAATATGATAAAAAGGTCAGATCTTAGTATAAAGAAATGAAAATTCTGGCTGTGTGCAGTGGCTCTTGCCTGTAACCCCAGTGCTTTGGGTGGCTGAGGAAGGAGGATTGTTTGAAGCCAGGAGTTTGAGACCGATCTGGGCAACAAATATAGTGAGACCCCATTTCTGTAAAAACTAAAAAAGAATTAGCCAGGTGTATTGGCACATACCTGTAGTCCCAGCTACTTGGGAGGCTAAAACGGGAAGATTGCCCAAGCCCAGGAATCCATTGCTGTGGTGAGCTATAATTGCGCCATTGCACGCTAACCTGGGTGGCTAAGTGAGATCTTGTCTCTGGAAACAAACAAACCAAGAAAATAAATGAAAATTGTAACAAGAGTGGGAATTCTTGTTTTCTTCTTTCCAAAGAGGTTTAAAATATATTAATAATTATATCACATGCTACAAAAAGTGTGGTGAAATTGACACTTGAGTACCTGGTTGGTGTACCATACTTTTGCAAAGCATTTCAGCCATGTGTATTGAGAGCAAATGTTTATGCTATTTGAACCAGGCACTTCCATTTTGGGGCATGCGATGTAAGGAAATAATTGAAGTGATAATATGCAAATACATCTGGGTTTAGTTTTATTTATAATTGTGAGAAGTTGAAAACAATAGATCAATGGCTGAAATATGAAATATCCACTTGATGGAATATATTTGCAACTGATAAAAATGCAAGTTTTAAGAATTTTAACAAGTGTTTGTTGTTGTCGTTGTTTGTTTTTTTGAGATGGAATCTTGCTCTGTCTCCCAAGCTGGAGTGCAGTGGCGTGATCTTGGCTTACTGCAACTTCTGCCTCCCAGGTTCAAGCAATTCCTGTGCCCTAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACACCCAGCCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACATGTTGGCCAGGGTTGTCTCAAACTCTTGATTTCAAGTGACCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCGGCCAGAACTCGAAAAAGTGGTTTTGATGTACTGTGAGAAGAAAAGCAGGCTGTTATGTTTGCAGGCCCCACACCCGAGTGCTCTCACCCCTCTGCCCTTTCCTAGTAGAGCTGAATTCACTGAGGGTTGCTCCATTTGTGGCTGTGTGTCAGGGCCTCTTATTCCCTTTTCTTTTTTTAGGGGGGAGGGCTGTTAATGTTACTCTTCTAATAAGGGAAATACTAATTTGGAGCAATCTGAGGACTCCTGACATAAGCCATGTCAGATAGTGAAGTGCTAGGAGATGGGATTCTGTATAGAAAGGGCCTCTCTTGCCTTCACCACAAGCATTCTCAGCAAAGTAGAACATGGAAAAACTTCTCTGCACCATGATTATTTTATTTTTTTTTTGAGACAGAGTCTCGCTCTGTCATGCCCAGTGT
|
GTAAGTTAGCTTTGCCTACTACCCATTTAAATAACATGATTTATAGATAGGGACACTTGTCTCTGCCATTCCCTCCCCACAATTCTTTTTGTCTTTTCTTTTTTTAGGAATTGGTGTGGATTTGGTGTGCATGGGAGAGCAACCGTTACATGCTGTCCCATTGTTCAAGGTAATTAGATTTCGGATTTGTTTACTAAAGGCCAGTTGGAGTATAGTTAGAAAGAGAAAAATTCCAGGCGCTGTGGCATGCACTTATAGTCCCACTTACTCGAGAGGCTGAAGTGGGAAGATCCCTTAAGCCTAGGAGTTTCGGTATAGTTTGCTATGAACATGCCTATGAATAACCACTGCACTCCAGCCTGGGCAGCAAAGCAAGACTCTATCTCTAAAAAAATTATTTTTGAGACGATGTCTTGTTCTTGTCCTCCAGGCTGGAGTGCAATGGTGCGATGTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAATCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTATGATTACAGGCGCCTGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACACCTGATTGCAGGTGGTCCGCCCGCCTTGGCCTCCCAAATTGCTGGGATTACAGGCATGACCCACAGCGCCCAGCCCTAAAAAATTTTTTTTAAAAACCTGAAAAACAGAAAAGTTAGAGCAGTTCCAAAACCTACTTGTTCTGTAGCTTATCTGTGCTCTCATTTTTCTCCTTGCAGCTCCATAATCGGAGTGCTCCCCGTGATTCTCGTCTGGGCGATGACTATAATATCCCTCACTGGATAAACCACAGGTGGGTGCGATCTCGATCAATAGTAGGTGATAAGCGTTTTGAACAGCTTCCTTGCCATTTTTCTTTAAATCTGTTAAGTTCTTATTATGGCACTAAACCTTTTGTTAAGAAAATGTGGAAACCAAGTTCTAACATTTGCTCAAAGCTCTGTACACACAAAGCAGTAGCAGTATCATAGGAACAGTCTATGGTGAAAAAGAATAAAAACAAAATTTGAAGGACTTACTTCCTCTGCAGTTCCCATGTCCTTCTATTCCCAACTCCCACAGACTGTAGAAGACCAACATTTGTACCTGACCTCCTTCAGCTCTAGAGAAGTCCCCGCGCCTCTTTACATGGAATCCTGCTGATTCCAGCTCAGGGATGGCTTTTCTCATCCCTCTGCCAGTGCCAGTGCCTCATCTTTTTGAACTATGACACTAATCTTATTCCACCTACCCTTCTCCTGAAAATGCCTATTTTCTTCCAAGATCCAACTCCAGCATCTCTCTTTTATGAATTCCTCCTGTGCTGCCCTGATAGCTAACAGCCACTTTTTCTTCAGTGCTTCCAGAGCATTCTATCCTTCTCTGGGTTGTCTTTCTTTCTTTCTTTTTTTTTTTTAAGACGGAGTTTCACTCTGTCACCCAGGCTGGAGTGCAGTGACATGATCTTGGCTCACTGCAACCTCCACCACCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCTGCGTAGTTGGGATTACAGGTGCCTGCCGCCACGCCCGGCTAATTTTTGTATTTTTAGTAGAAACGAGATTTCACTGTGTTGGCCAACCTGGTCTTGAATAGCAAGTTCATGGCAAAGCTGCAGCTATTAGTTTATACTATTTGATATCATGATATTAGACTGTTTTTGACCTACAAAAGTAGCAATTTCAGGCCGGTCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGATGCTGAGGTGGGAGGAATGCTTGAGGCCAGGAGTTTGAAACCATTTTGGTCAGTGTAGCCAGACTCTGTCTCTACCAAAAAACAAAACATAACTAATGTTTTGTAGTGAATTCTTGTAAAAGAAGTTAAAATTGGGAAGATTAGTGAAGCTGAGAACAAAGCCCATGTCAGGAGGGCTGATCCATGCCTAGTATTTTAACTGTGTTTTGAGTTTTAAAATAAAGGGAATTTAGATTAATGACTCTGTTTCTTTTACAGTTTCTACACATCCAAAAGCCAGCTCTTTTGTAATAGTTTCACCCCACGAATAAAACTGGCAGGAAAGAAGGTAGGTTTTTATTTTTGTTAAGACGGGGTCTTATTATGTGGTCCAGTCTTATCTTGAGCTCCTGGACTCAATCAGTCCTCCTGTTTCAGCCTCCCAAAGTGTTGGGATTACAGACATGAGCCATTCTGCCCAGCCAAGAAGGTAGATTTCATTAATCAGCAGAGAGCCTTTGTGGACTATCACGCATTGATAGGGTTATTTTAGTCCTGAGGTACCCTCATCTTTCCCAATGGCCATGAACAGGGTTAAGAAATTCATCCCCAAACTTTATAACTTTATACATTAGATAAATAAATAACAAGGCCAAGGCCAGACTGCGTGAAATACCTTTGAGAAAAATATGACCAAGACCAAGAGTTCATTTTTTGTTTGTTTGTTTAAGAGTTCGTTTTATTGTGACCTGACTGTTTTATTCAGATGTTGAAGCCACTCAGATACCAGTGGGGATAAAGACAAAGATGCAGATATGCATTGCAGCAAAGGGGAAATATGATAAAAAGGTCAGATCTTAGTATAAAGAAATGAAAATTCTGGCTGTGTGCAGTGGCTCTTGCCTGTAACCCCAGTGCTTTGGGTGGCTGAGGAAGGAGGATTGTTTGAAGCCAGGAGTTTGAGACCGATCTGGGCAACAAATATAGTGAGACCCCATTTCTGTAAAAACTAAAAAAGAATTAGCCAGGTGTATTGGCACATACCTGTAGTCCCAGCTACTTGGGAGGCTAAAACGGGAAGATTGCCCAAGCCCAGGAATCCATTGCTGTGGTGAGCTATAATTGCGCCATTGCACGCTAACCTGGGTGGCTAAGTGAGATCTTGTCTCTGGAAACAAACAAACCAAGAAAATAAATGAAAATTGTAACAAGAGTGGGAATTCTTGTTTTCTTCTTTCCAAAGAGGTTTAAAATATATTAATAATTATATCACATGCTACAAAAAGTGTGGTGAAATTGACACTTGAGTACCTGGTTGGTGTACCATACTTTTGCAAAGCATTTCAGCCATGTGTATTGAGAGCAAATGTTTATGCTATTTGAACCAGGCACTTCCATTTTGGGGCATGCGATGTAAGGAAATAATTGAAGTGATAATATGCAAATACATCTGGGTTTAGTTTTATTTATAATTGTGAGAAGTTGAAAACAATAGATCAATGGCTGAAATATGAAATATCCACTTGATGGAATATATTTGCAACTGATAAAAATGCAAGTTTTAAGAATTTTAACAAGTGTTTGTTGTTGTCGTTGTTTGTTTTTTTGAGATGGAATCTTGCTCTGTCTCCCAAGCTGGAGTGCAGTGGCGTGATCTTGGCTTACTGCAACTTCTGCCTCCCAGGTTCAAGCAATTCCTGTGCCCTAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACACCCAGCCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACATGTTGGCCAGGGTTGTCTCAAACTCTTGATTTCAAGTGACCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCGGCCAGAACTCGAAAAAGTGGTTTTGATGTACTGTGAGAAGAAAAGCAGGCTGTTATGTTTGCAGGCCCCACACCCGAGTGCTCTCACCCCTCTGCCCTTTCCTAGTAGAGCTGAATTCACTGAGGGTTGCTCCATTTGTGGCTGTGTGTCAGGGCCTCTTATTCCCTTTTCTTTTTTTAGGGGGGAGGGCTGTTAATGTTACTCTTCTAATAAGGGAAATACTAATTTGGAGCAATCTGAGGACTCCTGACATAAGCCATGTCAGATAGTGAAGTGCTAGGAGATGGGATTCTGTATAGAAAGGGCCTCTCTTGCCTTCACCACAAGCATTCTCAGCAAAGTAGAACATGGAAAAACTTCTCTGCACCATGATTATTTTATTTTTTTTTTGAGACAGAGTCTCGCTCTGTCATGCCCAGTGTNNNN
|
benign
| 325,821 |
Is the genetic variant on chromosome 22, position 31806113, gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
benign
|
TTTGCCTACTACCCATTTAAATAACATGATTTATAGATAGGGACACTTGTCTCTGCCATTCCCTCCCCACAATTCTTTTTGTCTTTTCTTTTTTTAGGAATTGGTGTGGATTTGGTGTGCATGGGAGAGCAACCGTTACATGCTGTCCCATTGTTCAAGGTAATTAGATTTCGGATTTGTTTACTAAAGGCCAGTTGGAGTATAGTTAGAAAGAGAAAAATTCCAGGCGCTGTGGCATGCACTTATAGTCCCACTTACTCGAGAGGCTGAAGTGGGAAGATCCCTTAAGCCTAGGAGTTTCGGTATAGTTTGCTATGAACATGCCTATGAATAACCACTGCACTCCAGCCTGGGCAGCAAAGCAAGACTCTATCTCTAAAAAAATTATTTTTGAGACGATGTCTTGTTCTTGTCCTCCAGGCTGGAGTGCAATGGTGCGATGTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAATCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTATGATTACAGGCGCCTGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACACCTGATTGCAGGTGGTCCGCCCGCCTTGGCCTCCCAAATTGCTGGGATTACAGGCATGACCCACAGCGCCCAGCCCTAAAAAATTTTTTTTAAAAACCTGAAAAACAGAAAAGTTAGAGCAGTTCCAAAACCTACTTGTTCTGTAGCTTATCTGTGCTCTCATTTTTCTCCTTGCAGCTCCATAATCGGAGTGCTCCCCGTGATTCTCGTCTGGGCGATGACTATAATATCCCTCACTGGATAAACCACAGGTGGGTGCGATCTCGATCAATAGTAGGTGATAAGCGTTTTGAACAGCTTCCTTGCCATTTTTCTTTAAATCTGTTAAGTTCTTATTATGGCACTAAACCTTTTGTTAAGAAAATGTGGAAACCAAGTTCTAACATTTGCTCAAAGCTCTGTACACACAAAGCAGTAGCAGTATCATAGGAACAGTCTATGGTGAAAAAGAATAAAAACAAAATTTGAAGGACTTACTTCCTCTGCAGTTCCCATGTCCTTCTATTCCCAACTCCCACAGACTGTAGAAGACCAACATTTGTACCTGACCTCCTTCAGCTCTAGAGAAGTCCCCGCGCCTCTTTACATGGAATCCTGCTGATTCCAGCTCAGGGATGGCTTTTCTCATCCCTCTGCCAGTGCCAGTGCCTCATCTTTTTGAACTATGACACTAATCTTATTCCACCTACCCTTCTCCTGAAAATGCCTATTTTCTTCCAAGATCCAACTCCAGCATCTCTCTTTTATGAATTCCTCCTGTGCTGCCCTGATAGCTAACAGCCACTTTTTCTTCAGTGCTTCCAGAGCATTCTATCCTTCTCTGGGTTGTCTTTCTTTCTTTCTTTTTTTTTTTTAAGACGGAGTTTCACTCTGTCACCCAGGCTGGAGTGCAGTGACATGATCTTGGCTCACTGCAACCTCCACCACCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCTGCGTAGTTGGGATTACAGGTGCCTGCCGCCACGCCCGGCTAATTTTTGTATTTTTAGTAGAAACGAGATTTCACTGTGTTGGCCAACCTGGTCTTGAATAGCAAGTTCATGGCAAAGCTGCAGCTATTAGTTTATACTATTTGATATCATGATATTAGACTGTTTTTGACCTACAAAAGTAGCAATTTCAGGCCGGTCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGATGCTGAGGTGGGAGGAATGCTTGAGGCCAGGAGTTTGAAACCATTTTGGTCAGTGTAGCCAGACTCTGTCTCTACCAAAAAACAAAACATAACTAATGTTTTGTAGTGAATTCTTGTAAAAGAAGTTAAAATTGGGAAGATTAGTGAAGCTGAGAACAAAGCCCATGTCAGGAGGGCTGATCCATGCCTAGTATTTTAACTGTGTTTTGAGTTTTAAAATAAAGGGAATTTAGATTAATGACTCTGTTTGTTTCTTTTACAGTTTCTACACATCCAAAAGCCAGCTCTTTTGTAATAGTTTCACCCCACGAATAAAACTGGCAGGAAAGAAGGTAGGTTTTTATTTTTGTTAAGACGGGGTCTTATTATGTGGTCCAGTCTTATCTTGAGCTCCTGGACTCAATCAGTCCTCCTGTTTCAGCCTCCCAAAGTGTTGGGATTACAGACATGAGCCATTCTGCCCAGCCAAGAAGGTAGATTTCATTAATCAGCAGAGAGCCTTTGTGGACTATCACGCATTGATAGGGTTATTTTAGTCCTGAGGTACCCTCATCTTTCCCAATGGCCATGAACAGGGTTAAGAAATTCATCCCCAAACTTTATAACTTTATACATTAGATAAATAAATAACAAGGCCAAGGCCAGACTGCGTGAAATACCTTTGAGAAAAATATGACCAAGACCAAGAGTTCATTTTTTGTTTGTTTGTTTAAGAGTTCGTTTTATTGTGACCTGACTGTTTTATTCAGATGTTGAAGCCACTCAGATACCAGTGGGGATAAAGACAAAGATGCAGATATGCATTGCAGCAAAGGGGAAATATGATAAAAAGGTCAGATCTTAGTATAAAGAAATGAAAATTCTGGCTGTGTGCAGTGGCTCTTGCCTGTAACCCCAGTGCTTTGGGTGGCTGAGGAAGGAGGATTGTTTGAAGCCAGGAGTTTGAGACCGATCTGGGCAACAAATATAGTGAGACCCCATTTCTGTAAAAACTAAAAAAGAATTAGCCAGGTGTATTGGCACATACCTGTAGTCCCAGCTACTTGGGAGGCTAAAACGGGAAGATTGCCCAAGCCCAGGAATCCATTGCTGTGGTGAGCTATAATTGCGCCATTGCACGCTAACCTGGGTGGCTAAGTGAGATCTTGTCTCTGGAAACAAACAAACCAAGAAAATAAATGAAAATTGTAACAAGAGTGGGAATTCTTGTTTTCTTCTTTCCAAAGAGGTTTAAAATATATTAATAATTATATCACATGCTACAAAAAGTGTGGTGAAATTGACACTTGAGTACCTGGTTGGTGTACCATACTTTTGCAAAGCATTTCAGCCATGTGTATTGAGAGCAAATGTTTATGCTATTTGAACCAGGCACTTCCATTTTGGGGCATGCGATGTAAGGAAATAATTGAAGTGATAATATGCAAATACATCTGGGTTTAGTTTTATTTATAATTGTGAGAAGTTGAAAACAATAGATCAATGGCTGAAATATGAAATATCCACTTGATGGAATATATTTGCAACTGATAAAAATGCAAGTTTTAAGAATTTTAACAAGTGTTTGTTGTTGTCGTTGTTTGTTTTTTTGAGATGGAATCTTGCTCTGTCTCCCAAGCTGGAGTGCAGTGGCGTGATCTTGGCTTACTGCAACTTCTGCCTCCCAGGTTCAAGCAATTCCTGTGCCCTAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACACCCAGCCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACATGTTGGCCAGGGTTGTCTCAAACTCTTGATTTCAAGTGACCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCGGCCAGAACTCGAAAAAGTGGTTTTGATGTACTGTGAGAAGAAAAGCAGGCTGTTATGTTTGCAGGCCCCACACCCGAGTGCTCTCACCCCTCTGCCCTTTCCTAGTAGAGCTGAATTCACTGAGGGTTGCTCCATTTGTGGCTGTGTGTCAGGGCCTCTTATTCCCTTTTCTTTTTTTAGGGGGGAGGGCTGTTAATGTTACTCTTCTAATAAGGGAAATACTAATTTGGAGCAATCTGAGGACTCCTGACATAAGCCATGTCAGATAGTGAAGTGCTAGGAGATGGGATTCTGTATAGAAAGGGCCTCTCTTGCCTTCACCACAAGCATTCTCAGCAAAGTAGAACATGGAAAAACTTCTCTGCACCATGATTATTTTATTTTTTTTTTGAGACAGAGTCTCGCTCTGTCATGCCCAGTGTAGTGGTGGGA
|
TTTGCCTACTACCCATTTAAATAACATGATTTATAGATAGGGACACTTGTCTCTGCCATTCCCTCCCCACAATTCTTTTTGTCTTTTCTTTTTTTAGGAATTGGTGTGGATTTGGTGTGCATGGGAGAGCAACCGTTACATGCTGTCCCATTGTTCAAGGTAATTAGATTTCGGATTTGTTTACTAAAGGCCAGTTGGAGTATAGTTAGAAAGAGAAAAATTCCAGGCGCTGTGGCATGCACTTATAGTCCCACTTACTCGAGAGGCTGAAGTGGGAAGATCCCTTAAGCCTAGGAGTTTCGGTATAGTTTGCTATGAACATGCCTATGAATAACCACTGCACTCCAGCCTGGGCAGCAAAGCAAGACTCTATCTCTAAAAAAATTATTTTTGAGACGATGTCTTGTTCTTGTCCTCCAGGCTGGAGTGCAATGGTGCGATGTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAATCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTATGATTACAGGCGCCTGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACACCTGATTGCAGGTGGTCCGCCCGCCTTGGCCTCCCAAATTGCTGGGATTACAGGCATGACCCACAGCGCCCAGCCCTAAAAAATTTTTTTTAAAAACCTGAAAAACAGAAAAGTTAGAGCAGTTCCAAAACCTACTTGTTCTGTAGCTTATCTGTGCTCTCATTTTTCTCCTTGCAGCTCCATAATCGGAGTGCTCCCCGTGATTCTCGTCTGGGCGATGACTATAATATCCCTCACTGGATAAACCACAGGTGGGTGCGATCTCGATCAATAGTAGGTGATAAGCGTTTTGAACAGCTTCCTTGCCATTTTTCTTTAAATCTGTTAAGTTCTTATTATGGCACTAAACCTTTTGTTAAGAAAATGTGGAAACCAAGTTCTAACATTTGCTCAAAGCTCTGTACACACAAAGCAGTAGCAGTATCATAGGAACAGTCTATGGTGAAAAAGAATAAAAACAAAATTTGAAGGACTTACTTCCTCTGCAGTTCCCATGTCCTTCTATTCCCAACTCCCACAGACTGTAGAAGACCAACATTTGTACCTGACCTCCTTCAGCTCTAGAGAAGTCCCCGCGCCTCTTTACATGGAATCCTGCTGATTCCAGCTCAGGGATGGCTTTTCTCATCCCTCTGCCAGTGCCAGTGCCTCATCTTTTTGAACTATGACACTAATCTTATTCCACCTACCCTTCTCCTGAAAATGCCTATTTTCTTCCAAGATCCAACTCCAGCATCTCTCTTTTATGAATTCCTCCTGTGCTGCCCTGATAGCTAACAGCCACTTTTTCTTCAGTGCTTCCAGAGCATTCTATCCTTCTCTGGGTTGTCTTTCTTTCTTTCTTTTTTTTTTTTAAGACGGAGTTTCACTCTGTCACCCAGGCTGGAGTGCAGTGACATGATCTTGGCTCACTGCAACCTCCACCACCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCTGCGTAGTTGGGATTACAGGTGCCTGCCGCCACGCCCGGCTAATTTTTGTATTTTTAGTAGAAACGAGATTTCACTGTGTTGGCCAACCTGGTCTTGAATAGCAAGTTCATGGCAAAGCTGCAGCTATTAGTTTATACTATTTGATATCATGATATTAGACTGTTTTTGACCTACAAAAGTAGCAATTTCAGGCCGGTCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGATGCTGAGGTGGGAGGAATGCTTGAGGCCAGGAGTTTGAAACCATTTTGGTCAGTGTAGCCAGACTCTGTCTCTACCAAAAAACAAAACATAACTAATGTTTTGTAGTGAATTCTTGTAAAAGAAGTTAAAATTGGGAAGATTAGTGAAGCTGAGAACAAAGCCCATGTCAGGAGGGCTGATCCATGCCTAGTATTTTAACTGTGTTTTGAGTTTTAAAATAAAGGGAATTTAGATTAATGACTCTGTTTGTTTCTTTACAGTTTCTACACATCCAAAAGCCAGCTCTTTTGTAATAGTTTCACCCCACGAATAAAACTGGCAGGAAAGAAGGTAGGTTTTTATTTTTGTTAAGACGGGGTCTTATTATGTGGTCCAGTCTTATCTTGAGCTCCTGGACTCAATCAGTCCTCCTGTTTCAGCCTCCCAAAGTGTTGGGATTACAGACATGAGCCATTCTGCCCAGCCAAGAAGGTAGATTTCATTAATCAGCAGAGAGCCTTTGTGGACTATCACGCATTGATAGGGTTATTTTAGTCCTGAGGTACCCTCATCTTTCCCAATGGCCATGAACAGGGTTAAGAAATTCATCCCCAAACTTTATAACTTTATACATTAGATAAATAAATAACAAGGCCAAGGCCAGACTGCGTGAAATACCTTTGAGAAAAATATGACCAAGACCAAGAGTTCATTTTTTGTTTGTTTGTTTAAGAGTTCGTTTTATTGTGACCTGACTGTTTTATTCAGATGTTGAAGCCACTCAGATACCAGTGGGGATAAAGACAAAGATGCAGATATGCATTGCAGCAAAGGGGAAATATGATAAAAAGGTCAGATCTTAGTATAAAGAAATGAAAATTCTGGCTGTGTGCAGTGGCTCTTGCCTGTAACCCCAGTGCTTTGGGTGGCTGAGGAAGGAGGATTGTTTGAAGCCAGGAGTTTGAGACCGATCTGGGCAACAAATATAGTGAGACCCCATTTCTGTAAAAACTAAAAAAGAATTAGCCAGGTGTATTGGCACATACCTGTAGTCCCAGCTACTTGGGAGGCTAAAACGGGAAGATTGCCCAAGCCCAGGAATCCATTGCTGTGGTGAGCTATAATTGCGCCATTGCACGCTAACCTGGGTGGCTAAGTGAGATCTTGTCTCTGGAAACAAACAAACCAAGAAAATAAATGAAAATTGTAACAAGAGTGGGAATTCTTGTTTTCTTCTTTCCAAAGAGGTTTAAAATATATTAATAATTATATCACATGCTACAAAAAGTGTGGTGAAATTGACACTTGAGTACCTGGTTGGTGTACCATACTTTTGCAAAGCATTTCAGCCATGTGTATTGAGAGCAAATGTTTATGCTATTTGAACCAGGCACTTCCATTTTGGGGCATGCGATGTAAGGAAATAATTGAAGTGATAATATGCAAATACATCTGGGTTTAGTTTTATTTATAATTGTGAGAAGTTGAAAACAATAGATCAATGGCTGAAATATGAAATATCCACTTGATGGAATATATTTGCAACTGATAAAAATGCAAGTTTTAAGAATTTTAACAAGTGTTTGTTGTTGTCGTTGTTTGTTTTTTTGAGATGGAATCTTGCTCTGTCTCCCAAGCTGGAGTGCAGTGGCGTGATCTTGGCTTACTGCAACTTCTGCCTCCCAGGTTCAAGCAATTCCTGTGCCCTAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCACACCCAGCCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTCACATGTTGGCCAGGGTTGTCTCAAACTCTTGATTTCAAGTGACCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCGGCCAGAACTCGAAAAAGTGGTTTTGATGTACTGTGAGAAGAAAAGCAGGCTGTTATGTTTGCAGGCCCCACACCCGAGTGCTCTCACCCCTCTGCCCTTTCCTAGTAGAGCTGAATTCACTGAGGGTTGCTCCATTTGTGGCTGTGTGTCAGGGCCTCTTATTCCCTTTTCTTTTTTTAGGGGGGAGGGCTGTTAATGTTACTCTTCTAATAAGGGAAATACTAATTTGGAGCAATCTGAGGACTCCTGACATAAGCCATGTCAGATAGTGAAGTGCTAGGAGATGGGATTCTGTATAGAAAGGGCCTCTCTTGCCTTCACCACAAGCATTCTCAGCAAAGTAGAACATGGAAAAACTTCTCTGCACCATGATTATTTTATTTTTTTTTTGAGACAGAGTCTCGCTCTGTCATGCCCAGTGTAGTGGTGGGAN
|
benign
| 325,823 |
Is the variant located on chromosome 22 at position 31815005, gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Epilepsy,_familial_focal,_with_variable_foci_1', 'Familial_focal_epilepsy_with_variable_foci']
|
CTCGAACTCCCGACCCCAGGTGATCCACCCACCTTGGCCTCCAAAAGTGCTAGGATTATAGGTGTGAGCCACTGCCCCCGCCAGATTTCTTAACTCTGTAGCTTTAAGCGCAACTGAGTGGAAGAATATTATGTCTCTTAATTTTGTGGCAAATGAACTTAGAGTGACCACATGATTGTTTTCTGCCCTTTTCTCTCATCCAGTCCTACCTGAGAAGGCTTAGAGCTCAGAATTAAGTGCTGTCAGCAGCCTCTCTCCTATGTGTGGATGCTGCTTAGGGGCTCAGTAAGAGCTACTTAGGGGCTTTTCTTTGTAGTCTTTAAAAATGCTCTCATAGTTCAAGATTGATTTTCTTTTTCTAATTAAAGATGACAAGACCTGGTGGTACCCAGGTTGTGTGGTCTCTGAAGGCACAAATTGTGTCTTAATTGGTGCTACCTTCACACATGGCTAAGCGTATACTGGTGTTTAAATATTTACTGTGGAAAGAACAAACATGTAGTCAGCACTTGGAATCTGTTTTCAGGCTCCGTTTAAGCTCTTACTAAAAAAATCCTTCCAGGAGGAAAGGGAGCAGCTCTGATGCCAGAAGGGCAGCCCCGTTGGTGGGCTTGCTTTTTCGTTCTGAGCTTTTGCTTCTCTATAGGGCTTCTTTCTTTTTGATCCTTCTTCCTGTTGCTTTTAGAGGTTTTCCCCTTAGGGAATTTTATGTTTTAATAAGGCTATATATATATATATATATATGCATATATAAACTTTTATTAGGAAATGTTCAGACGTGCTCAAATAGAGAATAGTATCATGAACAGTTATCACCATGTTGTCAGCCTTGTTTCATGACCTCTCCCACGTTTAAATTTTGGATGGAATATTTTAAAAACAAATCCCAGGATTGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGTTCAGGAGTTTGAGACCAGGCTGACCAACGTGGTGAAACCCCGTCTCTACTAAAAATACGAAAAAAGTACCCAGGCGTGGTGGTGGGCGTCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAAAATCACTTGAACCCAGGATGTGGAGGCTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGTCTGGGTGACAGAGTGAGACTCCGTCTCACAAAAACAAACAAACAAAACAAACCCCAGGCAGCCTCTATTTTTTTTCAATAATACATACTTCAGCGTAAGTTTCTTTCTTTTTTTACATGTTATTTATTTATTTAGTGTCACCCAGCCTGGCACAAAGCTGATTAGTATATGTTTCAACAAATAAGAACTAAAAGAAAACCCATCACGGTACCATTATCATTGGTAACAAAATTAACACTAATCCCTAAATGCCCTCTAATAGCCAGTGCATAGTCAGTTTTTTGAATTGCCTCAAAAATGTGCTTTTGCAGTTAGTTTGAAATGGGACCTAAACAAGATCCACTTTTTGCATTTGGTTATAATGCCTTTTGTGTGTGTGTGTGACAGTAGAATGTCTTGCTTTCTACATTTGGCTGATTGTTGCCTTGTAGTGTTTCAGTTTTCCTCTATTCTGCAGATTCCCTGTAAACTGGCAATTATCTCTGGAAGCTTGATTAGATTTAGATTCAAATTTGAGGGCAAGTAGACTTCTTGGGCACTATGTTCTTTCTCCCACATCACATCATACCTCTCTTCTCATTCTGTTTTTAGTGATGAGAGATTAATCAGTGGGATTAGGTGGGGTCAGCCTGGAGCAGTCCTTTCTTTACAACTATGATCCTAGGACTTTGGCTGCATAATGTCTGTCATTTCCCCCCTCTCTTATATAACATCTCAAGCTGTTAAGGGTGAAGTACCGCATACAGGTTTCCCACTTGTAGATCACACTGGGGATTTTTGTTATTGGGTTCCATGTGGCTTGGGCTGGTGATGGGTTTTAGTTTTAACTCAAGGTAGGACAGCATCCCTCGCTTGATGGTAACTTTTTGTCTCTTGCCTGGCAGATCTGTGCGAGAGCGAGAGAGTCACAGTCGAAAGAGTGCCAGCTCCTGTGATGTTTCATCCAGCCCTTCCCTACCAAGCCGCACACTGCCCACTGAGGAAGTGAGGAGCCAGGCTTCTGACGACAGCTCCCTAGGCAAGAGTGCCAACATCCTGATGATCCCACACCCCCACCTGCACCAGTATGAAGTCAGCAGCTCCTTGGGATACACCAGCACTCGAGGTAAGAGTGCTGAAGCACAGACAGAGCCAGGGACATCTTTCTTAATATAGTGGGTGACTGGAGGTGGGAGGATTGGTCAGAGGTGGGGTGTAAATCCCACATCTTAATGATTTCTTTGCCAGTGCAGTAGGTACAAATCACTTTAGCTGTTAGCTATGTATATATTATACTTCTTTTTTTTTTTTTTTTTTTTTTGGTGACAGAGCACCTAGGATAAAGTGCAGTGATGCAATCACAGCTCACCTCAGTGCGGCCTTGAACTCCTGGACTCAATCGATCCTCCCACCTCTGCCTCCCAAGTAACTGGGACTATAGCATGCCACCACACCCAGCTGATTATCATATTTTTTTTTGTAGAGGTGGGGAAGTGCAGTGATGCAATCACAGCTCACCTCAGTGCGGCCTTGAACTCCTGGACTCAATTGATCCTCCCACTTCTGCCTCCCAAGTAACTGGGACTATAGCATGCCACCACACCCAGCTGATTATCATATTTTTTTTTGTAGAGGTGGGGTTTTACCATTCCCAGGCTGGTCTTGAACTCCTGGACTCGAGGGATCCACCCATTGGCCTCCAAAAGTGCTGAGATTACAGGCATGAACCAATGTTACCGCACCCTGCCTCTATTATACTATTTTTTGTTTAGCCTTTCTTCATCCATCATTTAACTGTATGCCTTTCCATATGTTAATGGAAAGCTTTTCTTAGGCCTAGGGTCAAAAGGGTTTATTTCCTTATGATTTCCATTTGTGCCATATATAAAACAACCTCTGTCTTAATGTTGCATTTTAGTTTCTCATTTACCGGTCGGGCGCAGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGCCAGAAGTTTGAGACCAGCCTGGTCAACATGGTGAAACGCCGTCTCTACTCAAAATACAAAAATTAGCTAGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGCAGGCGTAGTTGCAGTGAGCCGAGATTCCACCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCCACCTCAAAAAAAAAAAAACAAAAAACTTTTTTTTTCACTTACCTGTTTTTTTTTAACTTTTATTTGCATTGATTTTGTACCGAATTTATTCCCATACTATCAGTTTTTGTTTCTTCAGTTTCTTTCTTTTCTTTTTTTTTCTTTTCTTTTTTTCTGAGACAGAGTCTTGCTCTGTTGCCCGGGCTAGGGTACAGTGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCTTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCACACCAGCTAATTTTTGTTTTTTTAGTAGAGATGGGGTTTTGCCGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCCAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTGGGATATCTTTTTCTTCTGTGCAATGTCCTCTTCTGGTTTAGGAATAATTTATTCCTTTTCCATGAGGATCATCTTGGTTTCGCAGGGGGAGCTCATGTATGGGTTAATCTGACCATGAGCTCTTTACATCAGGCAGCACATCTTGGGTGCTTTGTTCACCTGGACATGCTCAATGACCAGAGGATCTGCACCTGAACCCTTAAGTTCGGCATGACTGTGCATTTTTAAGCATATGTAGCAATAATTCAGTACTCTTTTTTGGCCACTGACCCCGTGTGCAGCCGTGCTGTGTGGCCTGGGACCACCTACTATCTCCATCA
|
CTCGAACTCCCGACCCCAGGTGATCCACCCACCTTGGCCTCCAAAAGTGCTAGGATTATAGGTGTGAGCCACTGCCCCCGCCAGATTTCTTAACTCTGTAGCTTTAAGCGCAACTGAGTGGAAGAATATTATGTCTCTTAATTTTGTGGCAAATGAACTTAGAGTGACCACATGATTGTTTTCTGCCCTTTTCTCTCATCCAGTCCTACCTGAGAAGGCTTAGAGCTCAGAATTAAGTGCTGTCAGCAGCCTCTCTCCTATGTGTGGATGCTGCTTAGGGGCTCAGTAAGAGCTACTTAGGGGCTTTTCTTTGTAGTCTTTAAAAATGCTCTCATAGTTCAAGATTGATTTTCTTTTTCTAATTAAAGATGACAAGACCTGGTGGTACCCAGGTTGTGTGGTCTCTGAAGGCACAAATTGTGTCTTAATTGGTGCTACCTTCACACATGGCTAAGCGTATACTGGTGTTTAAATATTTACTGTGGAAAGAACAAACATGTAGTCAGCACTTGGAATCTGTTTTCAGGCTCCGTTTAAGCTCTTACTAAAAAAATCCTTCCAGGAGGAAAGGGAGCAGCTCTGATGCCAGAAGGGCAGCCCCGTTGGTGGGCTTGCTTTTTCGTTCTGAGCTTTTGCTTCTCTATAGGGCTTCTTTCTTTTTGATCCTTCTTCCTGTTGCTTTTAGAGGTTTTCCCCTTAGGGAATTTTATGTTTTAATAAGGCTATATATATATATATATATATGCATATATAAACTTTTATTAGGAAATGTTCAGACGTGCTCAAATAGAGAATAGTATCATGAACAGTTATCACCATGTTGTCAGCCTTGTTTCATGACCTCTCCCACGTTTAAATTTTGGATGGAATATTTTAAAAACAAATCCCAGGATTGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGTTCAGGAGTTTGAGACCAGGCTGACCAACGTGGTGAAACCCCGTCTCTACTAAAAATACGAAAAAAGTACCCAGGCGTGGTGGTGGGCGTCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAAAATCACTTGAACCCAGGATGTGGAGGCTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGTCTGGGTGACAGAGTGAGACTCCGTCTCACAAAAACAAACAAACAAAACAAACCCCAGGCAGCCTCTATTTTTTTTCAATAATACATACTTCAGCGTAAGTTTCTTTCTTTTTTTACATGTTATTTATTTATTTAGTGTCACCCAGCCTGGCACAAAGCTGATTAGTATATGTTTCAACAAATAAGAACTAAAAGAAAACCCATCACGGTACCATTATCATTGGTAACAAAATTAACACTAATCCCTAAATGCCCTCTAATAGCCAGTGCATAGTCAGTTTTTTGAATTGCCTCAAAAATGTGCTTTTGCAGTTAGTTTGAAATGGGACCTAAACAAGATCCACTTTTTGCATTTGGTTATAATGCCTTTTGTGTGTGTGTGTGACAGTAGAATGTCTTGCTTTCTACATTTGGCTGATTGTTGCCTTGTAGTGTTTCAGTTTTCCTCTATTCTGCAGATTCCCTGTAAACTGGCAATTATCTCTGGAAGCTTGATTAGATTTAGATTCAAATTTGAGGGCAAGTAGACTTCTTGGGCACTATGTTCTTTCTCCCACATCACATCATACCTCTCTTCTCATTCTGTTTTTAGTGATGAGAGATTAATCAGTGGGATTAGGTGGGGTCAGCCTGGAGCAGTCCTTTCTTTACAACTATGATCCTAGGACTTTGGCTGCATAATGTCTGTCATTTCCCCCCTCTCTTATATAACATCTCAAGCTGTTAAGGGTGAAGTACCGCATACAGGTTTCCCACTTGTAGATCACACTGGGGATTTTTGTTATTGGGTTCCATGTGGCTTGGGCTGGTGATGGGTTTTAGTTTTAACTCAAGGTAGGACAGCATCCCTCGCTTGATGGTAACTTTTTGTCTCTTGCCTGGCAGATCTGTGCGAGAGCGAGAGTCACAGTCGAAAGAGTGCCAGCTCCTGTGATGTTTCATCCAGCCCTTCCCTACCAAGCCGCACACTGCCCACTGAGGAAGTGAGGAGCCAGGCTTCTGACGACAGCTCCCTAGGCAAGAGTGCCAACATCCTGATGATCCCACACCCCCACCTGCACCAGTATGAAGTCAGCAGCTCCTTGGGATACACCAGCACTCGAGGTAAGAGTGCTGAAGCACAGACAGAGCCAGGGACATCTTTCTTAATATAGTGGGTGACTGGAGGTGGGAGGATTGGTCAGAGGTGGGGTGTAAATCCCACATCTTAATGATTTCTTTGCCAGTGCAGTAGGTACAAATCACTTTAGCTGTTAGCTATGTATATATTATACTTCTTTTTTTTTTTTTTTTTTTTTTGGTGACAGAGCACCTAGGATAAAGTGCAGTGATGCAATCACAGCTCACCTCAGTGCGGCCTTGAACTCCTGGACTCAATCGATCCTCCCACCTCTGCCTCCCAAGTAACTGGGACTATAGCATGCCACCACACCCAGCTGATTATCATATTTTTTTTTGTAGAGGTGGGGAAGTGCAGTGATGCAATCACAGCTCACCTCAGTGCGGCCTTGAACTCCTGGACTCAATTGATCCTCCCACTTCTGCCTCCCAAGTAACTGGGACTATAGCATGCCACCACACCCAGCTGATTATCATATTTTTTTTTGTAGAGGTGGGGTTTTACCATTCCCAGGCTGGTCTTGAACTCCTGGACTCGAGGGATCCACCCATTGGCCTCCAAAAGTGCTGAGATTACAGGCATGAACCAATGTTACCGCACCCTGCCTCTATTATACTATTTTTTGTTTAGCCTTTCTTCATCCATCATTTAACTGTATGCCTTTCCATATGTTAATGGAAAGCTTTTCTTAGGCCTAGGGTCAAAAGGGTTTATTTCCTTATGATTTCCATTTGTGCCATATATAAAACAACCTCTGTCTTAATGTTGCATTTTAGTTTCTCATTTACCGGTCGGGCGCAGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGCCAGAAGTTTGAGACCAGCCTGGTCAACATGGTGAAACGCCGTCTCTACTCAAAATACAAAAATTAGCTAGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGCAGGCGTAGTTGCAGTGAGCCGAGATTCCACCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCCACCTCAAAAAAAAAAAAACAAAAAACTTTTTTTTTCACTTACCTGTTTTTTTTTAACTTTTATTTGCATTGATTTTGTACCGAATTTATTCCCATACTATCAGTTTTTGTTTCTTCAGTTTCTTTCTTTTCTTTTTTTTTCTTTTCTTTTTTTCTGAGACAGAGTCTTGCTCTGTTGCCCGGGCTAGGGTACAGTGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCTTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCACACCAGCTAATTTTTGTTTTTTTAGTAGAGATGGGGTTTTGCCGTGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCCAATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTGGGATATCTTTTTCTTCTGTGCAATGTCCTCTTCTGGTTTAGGAATAATTTATTCCTTTTCCATGAGGATCATCTTGGTTTCGCAGGGGGAGCTCATGTATGGGTTAATCTGACCATGAGCTCTTTACATCAGGCAGCACATCTTGGGTGCTTTGTTCACCTGGACATGCTCAATGACCAGAGGATCTGCACCTGAACCCTTAAGTTCGGCATGACTGTGCATTTTTAAGCATATGTAGCAATAATTCAGTACTCTTTTTTGGCCACTGACCCCGTGTGCAGCCGTGCTGTGTGGCCTGGGACCACCTACTATCTCCATCANN
|
pathogenic
| 325,844 |
Considering the genetic mutation at chromosome 22, position 31821588, impacting DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['DEPDC5-related_disorder', 'Familial_focal_epilepsy_with_variable_foci']
|
CTCACTGCAGCCTCAACCTTCAGGGCTCAGGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTGTAGGTACGTGCCACCAGGCCTGGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCTAGGCTGGTCTTGAACTCCTGGACACAAGCAATCTGCCCACCTTAACCTCCCAGAGTGCTGGGATTATAGATGTGAGCCACCGCATCCGGCCCTTTGTTTCTATTTGAGAGGAACTATGCATTGCCACCTGCTTTCTTTCCTAAGTCAGATGTCCCTCATTCTTGTTCATTCCTTCTTCTCTTAGATCTCTTGGATATTGATATCCTGTCTTGGTTACAAGGAGTTATGTTGTTTTGTTTTCTGTTAGGTCTCTCTGACAACTGAAAAAAAATTTTCCCCTGAATTCACTTTTTCCTAGTCCATTCTTTTTTATCTATATTCTGTTCTCAAGAAGATGACAGTAAGATTGTCTCAAGCTGTGGCTAAAATTAAACTTTAGCTTAATGGGCTCTTATTGAGCTGGAAAGGAACAAATGCATTAAACTCCAGGATTTTGTGTGTGTGTGTGTGTGAGACAGTGTCTCACTCTGTTACGTAGGCTGGAGTACAGTGGCGTGATCTCAGATAACTGCAACCTCTGCCTTTTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATACATCACCACACCTGGCTAATTTTTGTATTTCTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGATCTCAAGCAGTCCACCCACCCCGGCTTCCCAGTGTGCTGGCATTACAGGCGTGAGTCACCGTGCCTGGCCAAATTTTTATTTTATTTTTTTCATGGAAACCATCCTGCTGAATACCTGGAAATGCCTATTTTCTTTTGTACTTGCCTTTAATATTTAAAAGTTAAATAAGTGAGAAATAGATCTGAATCATTTGGCTGTAACTGGGGGGTCATGCCTAAACCCCGTTCTGCCCCCTTATCTCTGCTATAATCAGTCACACTACTTGTTTCTTTCTGTGTCCTTTCCCCTCCATTATTGTCTCCACTGGTTCCCTTCCAGGTCACTTAGAACTCTTGGTGTTTCTTCAGTGACCTTCATCTTTTCATGCTTCTGTGCTTCTCCTCCTCCCACTCTTCATGTACACTTTATTGGAACCATATTCTGCAAACAGTTTGCTTCGCTTCTTCCTCCTGTTTAGCTGGCCTTTCAGTAGCCAAGGCCCTCCTTCATCAGGGTTCCCTGTCTTCCTCATTCCTATCCTCAGAGGCTCTCTTCCTTCTTGGCTAATCTTGTGGTCTCCTGCACGTTTTGCCTCTTTCAGGTTTGGGATTTCACAGGTATCATTTCATCTACCCAGATGCCCTCTTCCTTCAATCGCTGTTAACTTTGTTGAACACTTAGCTCTACAAGTTCTCCTTTCCCAGGAAGCCTCATTTTGTAGACTTGACTAATTGTAATTTGTTTCCTACTCTGCCTTTTTTGCACTTAAACATCTTCTGCTTCTTAGAGTCACAGTTGTTACTCTCCTAGGTATTAACAGAATCATTTGGTGTTTCACTTGTATTTCCCTCTTACTGAGTTTGTGTTAGCCCTCCTGGCAAGGGGCCATGCCTCCTATACTTGTATATTTCACTGTGGCTATTCAGTTGACACACCTGAGGCAGAATATCCTAAAATATTCTTAACAGATTAGACAGGATGATAAAGGTGAGGCTCCTTAGTAGGATGGGTCCTGCTTGGAAGAGCAGATGTCCTTTGGGAGCCACCCTCTGTGGTGTGTTCTTCTTTCAATCTCACCAACATCTGTATCCCAGTAGCTGGAAAGAAGGGAGAGTATAGTTAAGTGCACAGCACTAGCTATCAGGTGGGAATGATGCTCAGTGGTTCTTTATCTGGGTAGGGCCATCCGGAGAAGCCATCCAGATCCACCACCAGACCCGACAGAATATGGCGGAGCTACAAGGCAGCGGGCAGAGGGATCCAACTCACTCCTCTGCAGAGCTGCTGGAGTTAGCATATCATGAAGCTGCTGGAAGGTGAGGATGTGCACAGGGCTCTGGAAGGTAACCTGAGAACACTCTCCAGCACCCAGGACAATGTGCAGAACAGACTATTGACAAAATGTTGTTTAGAAGACTTGAAAAGACAGTATGAGGTCAGGGCCTTCCTTTGTTGGCCAGTGGCATTCCCTTCAGTTGGTGAAGGGCAAAGCAAACATCCTGACATTTTTGCCTGAGATGTTACCTAGGCCCTGTTTTAGGTTTATTTTGAATCCAGAACACACTTTGTAAACCTCAAACGTGGGTTTTTCTAAACCTCAGTCAAAGGTGAATCCAAGAGAGGAAATTCTTTGGATTTGGAATGCTGAGACAGGAGATTCATGCTGTGTGTTTTGGGCAACCTCTCTGACTTTTGTGATTTTGGTCATTCAGAAATAAATCCCACTGTTGAGTTTAGAATAAGTTAATGCTAAGGGCAATGGAAATGAAGGCTTATGTTTATAGAAACAACTCTTTTTGAACCAATGCTCTGAATGTGTTACGAACATCCAGTGAGAGTCAGTGTAGGAGGAAAGTCATTTAAGCCTTGACAGGCGTGAGCCCGGGTTACACCTGGACTCAATATTCCTGTTGCTTTAGAAAACACTTTGCAAAATGCAGTCTTTGGCCCCTCTTTCAGTCACCTTGACACCCTAGGGGATAGATAAGGGATATGGGGAGGGCGTGACCTTCTTAACCAGATGAACTCAGGTCCATATATTCAAGCACCTCACACCCATCCTTGTTTGTAAAAGGGAGGCATAGGGCATAGGGAGGCATAGGGAGGCATAGGGCAGACAGGGCGGGTGGTCTAGCTTGGTGGTGGGAAAGCAGCAGGGGTGCCAGGGTCACAAGGAGCCGGCACTGACACACAAACTAAGCACTGTGGCCTGGTGGCTTAAGATAAGGATTCCAGTGGCTGCCAGCTTGAGTTGGCTGAATATTCAGGCCTGATTTTTATGAACCTACCTCCCACCCCCGGGATATAGGTGAGCAGGAAAAAGAGGTGATGATCTACATTAAGCCAGGTGGCTGGGCTCTGTTCTCTGCAGGCACAGCAATTCCCGCCAGCCTGGTGACGGCATGTCCTTCTTGAACTTCAGTGGAACAGAGGAGCTTTCTGTCGGCCTGCTTAGCAACAGTGGTGCAGGTAACCAATCCAAGAGGTAATAGAGTTGGGATGTTTAGATCAGGCTCACATCTGGAAATGACACAAGGGCCAGAAAAGCAGGGCCATGTCTATTTTGAGATCATTTCAGCCACACTTTTGGGTGACCTATTTAGAAACAGTGCTCTATAATGCATGGAATTAAAAATGGGCTGCACGTTAACATTTTTAGCTCAGAACATGTTGGTCAAGCCACATTTATCATCATTCTGTCACAGAGTTGTGATTGAGGGCAGCTTAGGAGCATAGTATTGAGGGCAACACCATGGACAGAGCTGGAGTGGTCTGTGCTCTAGAGGGACTTTTGGTTGTCAGGGGCAATGGGGAGCAAACCCACCTCCATAACAGGAGAGACCCAGAGGGGAGAAGTATGTGTCCAGTTTTAAGACCAGAAAAGAGAAGGATTACATAGTTGCCTAGAGAAGTGAGCATGCACCAGGGCTGGGCGCAGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGCCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCCATCTCTACCAAAAACACAAAAAGATTAGCCAGGCATGGTGATGCACACCTGTAGTCCCAGCTACTGGGAAGGCTGAAGCAGGAGAATCTCATGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGGTTGTGCCATTGTACTCCAGCCTGGGCTGCACAGCCAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGAGAAGTGAGCACGCACCAAAGACTTGAAGGGTAGAATTTGGTTAGGTAGACAGTTAGAAGGTGAAGTTTCAGTGCGGGTG
|
CTCACTGCAGCCTCAACCTTCAGGGCTCAGGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTGTAGGTACGTGCCACCAGGCCTGGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCTAGGCTGGTCTTGAACTCCTGGACACAAGCAATCTGCCCACCTTAACCTCCCAGAGTGCTGGGATTATAGATGTGAGCCACCGCATCCGGCCCTTTGTTTCTATTTGAGAGGAACTATGCATTGCCACCTGCTTTCTTTCCTAAGTCAGATGTCCCTCATTCTTGTTCATTCCTTCTTCTCTTAGATCTCTTGGATATTGATATCCTGTCTTGGTTACAAGGAGTTATGTTGTTTTGTTTTCTGTTAGGTCTCTCTGACAACTGAAAAAAAATTTTCCCCTGAATTCACTTTTTCCTAGTCCATTCTTTTTTATCTATATTCTGTTCTCAAGAAGATGACAGTAAGATTGTCTCAAGCTGTGGCTAAAATTAAACTTTAGCTTAATGGGCTCTTATTGAGCTGGAAAGGAACAAATGCATTAAACTCCAGGATTTTGTGTGTGTGTGTGTGTGAGACAGTGTCTCACTCTGTTACGTAGGCTGGAGTACAGTGGCGTGATCTCAGATAACTGCAACCTCTGCCTTTTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATACATCACCACACCTGGCTAATTTTTGTATTTCTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGATCTCAAGCAGTCCACCCACCCCGGCTTCCCAGTGTGCTGGCATTACAGGCGTGAGTCACCGTGCCTGGCCAAATTTTTATTTTATTTTTTTCATGGAAACCATCCTGCTGAATACCTGGAAATGCCTATTTTCTTTTGTACTTGCCTTTAATATTTAAAAGTTAAATAAGTGAGAAATAGATCTGAATCATTTGGCTGTAACTGGGGGGTCATGCCTAAACCCCGTTCTGCCCCCTTATCTCTGCTATAATCAGTCACACTACTTGTTTCTTTCTGTGTCCTTTCCCCTCCATTATTGTCTCCACTGGTTCCCTTCCAGGTCACTTAGAACTCTTGGTGTTTCTTCAGTGACCTTCATCTTTTCATGCTTCTGTGCTTCTCCTCCTCCCACTCTTCATGTACACTTTATTGGAACCATATTCTGCAAACAGTTTGCTTCGCTTCTTCCTCCTGTTTAGCTGGCCTTTCAGTAGCCAAGGCCCTCCTTCATCAGGGTTCCCTGTCTTCCTCATTCCTATCCTCAGAGGCTCTCTTCCTTCTTGGCTAATCTTGTGGTCTCCTGCACGTTTTGCCTCTTTCAGGTTTGGGATTTCACAGGTATCATTTCATCTACCCAGATGCCCTCTTCCTTCAATCGCTGTTAACTTTGTTGAACACTTAGCTCTACAAGTTCTCCTTTCCCAGGAAGCCTCATTTTGTAGACTTGACTAATTGTAATTTGTTTCCTACTCTGCCTTTTTTGCACTTAAACATCTTCTGCTTCTTAGAGTCACAGTTGTTACTCTCCTAGGTATTAACAGAATCATTTGGTGTTTCACTTGTATTTCCCTCTTACTGAGTTTGTGTTAGCCCTCCTGGCAAGGGGCCATGCCTCCTATACTTGTATATTTCACTGTGGCTATTCAGTTGACACACCTGAGGCAGAATATCCTAAAATATTCTTAACAGATTAGACAGGATGATAAAGGTGAGGCTCCTTAGTAGGATGGGTCCTGCTTGGAAGAGCAGATGTCCTTTGGGAGCCACCCTCTGTGGTGTGTTCTTCTTTCAATCTCACCAACATCTGTATCCCAGTAGCTGGAAAGAAGGGAGAGTATAGTTAAGTGCACAGCACTAGCTATCAGGTGGGAATGATGCTCAGTGGTTCTTTATCTGGGTAGGGCCATCCGGAGAAGCCATCCAGATCCACCACCAGACCCGACAGAATATGGCGGAGCTACAAGGCAGCGGGCAGAGGGATCCAACTCAACTCCTCTGCAGAGCTGCTGGAGTTAGCATATCATGAAGCTGCTGGAAGGTGAGGATGTGCACAGGGCTCTGGAAGGTAACCTGAGAACACTCTCCAGCACCCAGGACAATGTGCAGAACAGACTATTGACAAAATGTTGTTTAGAAGACTTGAAAAGACAGTATGAGGTCAGGGCCTTCCTTTGTTGGCCAGTGGCATTCCCTTCAGTTGGTGAAGGGCAAAGCAAACATCCTGACATTTTTGCCTGAGATGTTACCTAGGCCCTGTTTTAGGTTTATTTTGAATCCAGAACACACTTTGTAAACCTCAAACGTGGGTTTTTCTAAACCTCAGTCAAAGGTGAATCCAAGAGAGGAAATTCTTTGGATTTGGAATGCTGAGACAGGAGATTCATGCTGTGTGTTTTGGGCAACCTCTCTGACTTTTGTGATTTTGGTCATTCAGAAATAAATCCCACTGTTGAGTTTAGAATAAGTTAATGCTAAGGGCAATGGAAATGAAGGCTTATGTTTATAGAAACAACTCTTTTTGAACCAATGCTCTGAATGTGTTACGAACATCCAGTGAGAGTCAGTGTAGGAGGAAAGTCATTTAAGCCTTGACAGGCGTGAGCCCGGGTTACACCTGGACTCAATATTCCTGTTGCTTTAGAAAACACTTTGCAAAATGCAGTCTTTGGCCCCTCTTTCAGTCACCTTGACACCCTAGGGGATAGATAAGGGATATGGGGAGGGCGTGACCTTCTTAACCAGATGAACTCAGGTCCATATATTCAAGCACCTCACACCCATCCTTGTTTGTAAAAGGGAGGCATAGGGCATAGGGAGGCATAGGGAGGCATAGGGCAGACAGGGCGGGTGGTCTAGCTTGGTGGTGGGAAAGCAGCAGGGGTGCCAGGGTCACAAGGAGCCGGCACTGACACACAAACTAAGCACTGTGGCCTGGTGGCTTAAGATAAGGATTCCAGTGGCTGCCAGCTTGAGTTGGCTGAATATTCAGGCCTGATTTTTATGAACCTACCTCCCACCCCCGGGATATAGGTGAGCAGGAAAAAGAGGTGATGATCTACATTAAGCCAGGTGGCTGGGCTCTGTTCTCTGCAGGCACAGCAATTCCCGCCAGCCTGGTGACGGCATGTCCTTCTTGAACTTCAGTGGAACAGAGGAGCTTTCTGTCGGCCTGCTTAGCAACAGTGGTGCAGGTAACCAATCCAAGAGGTAATAGAGTTGGGATGTTTAGATCAGGCTCACATCTGGAAATGACACAAGGGCCAGAAAAGCAGGGCCATGTCTATTTTGAGATCATTTCAGCCACACTTTTGGGTGACCTATTTAGAAACAGTGCTCTATAATGCATGGAATTAAAAATGGGCTGCACGTTAACATTTTTAGCTCAGAACATGTTGGTCAAGCCACATTTATCATCATTCTGTCACAGAGTTGTGATTGAGGGCAGCTTAGGAGCATAGTATTGAGGGCAACACCATGGACAGAGCTGGAGTGGTCTGTGCTCTAGAGGGACTTTTGGTTGTCAGGGGCAATGGGGAGCAAACCCACCTCCATAACAGGAGAGACCCAGAGGGGAGAAGTATGTGTCCAGTTTTAAGACCAGAAAAGAGAAGGATTACATAGTTGCCTAGAGAAGTGAGCATGCACCAGGGCTGGGCGCAGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGCCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCCATCTCTACCAAAAACACAAAAAGATTAGCCAGGCATGGTGATGCACACCTGTAGTCCCAGCTACTGGGAAGGCTGAAGCAGGAGAATCTCATGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGGTTGTGCCATTGTACTCCAGCCTGGGCTGCACAGCCAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGAGAAGTGAGCACGCACCAAAGACTTGAAGGGTAGAATTTGGTTAGGTAGACAGTTAGAAGGTGAAGTTTCAGTGCGGGT
|
pathogenic
| 325,862 |
Benign or pathogenic: chromosome 22, position 31821592, gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit) variant? Disease(s) if pathogenic?
|
pathogenic; ['Familial_focal_epilepsy_with_variable_foci', 'Inborn_genetic_diseases']
|
CTGCAGCCTCAACCTTCAGGGCTCAGGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTGTAGGTACGTGCCACCAGGCCTGGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCTAGGCTGGTCTTGAACTCCTGGACACAAGCAATCTGCCCACCTTAACCTCCCAGAGTGCTGGGATTATAGATGTGAGCCACCGCATCCGGCCCTTTGTTTCTATTTGAGAGGAACTATGCATTGCCACCTGCTTTCTTTCCTAAGTCAGATGTCCCTCATTCTTGTTCATTCCTTCTTCTCTTAGATCTCTTGGATATTGATATCCTGTCTTGGTTACAAGGAGTTATGTTGTTTTGTTTTCTGTTAGGTCTCTCTGACAACTGAAAAAAAATTTTCCCCTGAATTCACTTTTTCCTAGTCCATTCTTTTTTATCTATATTCTGTTCTCAAGAAGATGACAGTAAGATTGTCTCAAGCTGTGGCTAAAATTAAACTTTAGCTTAATGGGCTCTTATTGAGCTGGAAAGGAACAAATGCATTAAACTCCAGGATTTTGTGTGTGTGTGTGTGTGAGACAGTGTCTCACTCTGTTACGTAGGCTGGAGTACAGTGGCGTGATCTCAGATAACTGCAACCTCTGCCTTTTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATACATCACCACACCTGGCTAATTTTTGTATTTCTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGATCTCAAGCAGTCCACCCACCCCGGCTTCCCAGTGTGCTGGCATTACAGGCGTGAGTCACCGTGCCTGGCCAAATTTTTATTTTATTTTTTTCATGGAAACCATCCTGCTGAATACCTGGAAATGCCTATTTTCTTTTGTACTTGCCTTTAATATTTAAAAGTTAAATAAGTGAGAAATAGATCTGAATCATTTGGCTGTAACTGGGGGGTCATGCCTAAACCCCGTTCTGCCCCCTTATCTCTGCTATAATCAGTCACACTACTTGTTTCTTTCTGTGTCCTTTCCCCTCCATTATTGTCTCCACTGGTTCCCTTCCAGGTCACTTAGAACTCTTGGTGTTTCTTCAGTGACCTTCATCTTTTCATGCTTCTGTGCTTCTCCTCCTCCCACTCTTCATGTACACTTTATTGGAACCATATTCTGCAAACAGTTTGCTTCGCTTCTTCCTCCTGTTTAGCTGGCCTTTCAGTAGCCAAGGCCCTCCTTCATCAGGGTTCCCTGTCTTCCTCATTCCTATCCTCAGAGGCTCTCTTCCTTCTTGGCTAATCTTGTGGTCTCCTGCACGTTTTGCCTCTTTCAGGTTTGGGATTTCACAGGTATCATTTCATCTACCCAGATGCCCTCTTCCTTCAATCGCTGTTAACTTTGTTGAACACTTAGCTCTACAAGTTCTCCTTTCCCAGGAAGCCTCATTTTGTAGACTTGACTAATTGTAATTTGTTTCCTACTCTGCCTTTTTTGCACTTAAACATCTTCTGCTTCTTAGAGTCACAGTTGTTACTCTCCTAGGTATTAACAGAATCATTTGGTGTTTCACTTGTATTTCCCTCTTACTGAGTTTGTGTTAGCCCTCCTGGCAAGGGGCCATGCCTCCTATACTTGTATATTTCACTGTGGCTATTCAGTTGACACACCTGAGGCAGAATATCCTAAAATATTCTTAACAGATTAGACAGGATGATAAAGGTGAGGCTCCTTAGTAGGATGGGTCCTGCTTGGAAGAGCAGATGTCCTTTGGGAGCCACCCTCTGTGGTGTGTTCTTCTTTCAATCTCACCAACATCTGTATCCCAGTAGCTGGAAAGAAGGGAGAGTATAGTTAAGTGCACAGCACTAGCTATCAGGTGGGAATGATGCTCAGTGGTTCTTTATCTGGGTAGGGCCATCCGGAGAAGCCATCCAGATCCACCACCAGACCCGACAGAATATGGCGGAGCTACAAGGCAGCGGGCAGAGGGATCCAACTCACTCCTCTGCAGAGCTGCTGGAGTTAGCATATCATGAAGCTGCTGGAAGGTGAGGATGTGCACAGGGCTCTGGAAGGTAACCTGAGAACACTCTCCAGCACCCAGGACAATGTGCAGAACAGACTATTGACAAAATGTTGTTTAGAAGACTTGAAAAGACAGTATGAGGTCAGGGCCTTCCTTTGTTGGCCAGTGGCATTCCCTTCAGTTGGTGAAGGGCAAAGCAAACATCCTGACATTTTTGCCTGAGATGTTACCTAGGCCCTGTTTTAGGTTTATTTTGAATCCAGAACACACTTTGTAAACCTCAAACGTGGGTTTTTCTAAACCTCAGTCAAAGGTGAATCCAAGAGAGGAAATTCTTTGGATTTGGAATGCTGAGACAGGAGATTCATGCTGTGTGTTTTGGGCAACCTCTCTGACTTTTGTGATTTTGGTCATTCAGAAATAAATCCCACTGTTGAGTTTAGAATAAGTTAATGCTAAGGGCAATGGAAATGAAGGCTTATGTTTATAGAAACAACTCTTTTTGAACCAATGCTCTGAATGTGTTACGAACATCCAGTGAGAGTCAGTGTAGGAGGAAAGTCATTTAAGCCTTGACAGGCGTGAGCCCGGGTTACACCTGGACTCAATATTCCTGTTGCTTTAGAAAACACTTTGCAAAATGCAGTCTTTGGCCCCTCTTTCAGTCACCTTGACACCCTAGGGGATAGATAAGGGATATGGGGAGGGCGTGACCTTCTTAACCAGATGAACTCAGGTCCATATATTCAAGCACCTCACACCCATCCTTGTTTGTAAAAGGGAGGCATAGGGCATAGGGAGGCATAGGGAGGCATAGGGCAGACAGGGCGGGTGGTCTAGCTTGGTGGTGGGAAAGCAGCAGGGGTGCCAGGGTCACAAGGAGCCGGCACTGACACACAAACTAAGCACTGTGGCCTGGTGGCTTAAGATAAGGATTCCAGTGGCTGCCAGCTTGAGTTGGCTGAATATTCAGGCCTGATTTTTATGAACCTACCTCCCACCCCCGGGATATAGGTGAGCAGGAAAAAGAGGTGATGATCTACATTAAGCCAGGTGGCTGGGCTCTGTTCTCTGCAGGCACAGCAATTCCCGCCAGCCTGGTGACGGCATGTCCTTCTTGAACTTCAGTGGAACAGAGGAGCTTTCTGTCGGCCTGCTTAGCAACAGTGGTGCAGGTAACCAATCCAAGAGGTAATAGAGTTGGGATGTTTAGATCAGGCTCACATCTGGAAATGACACAAGGGCCAGAAAAGCAGGGCCATGTCTATTTTGAGATCATTTCAGCCACACTTTTGGGTGACCTATTTAGAAACAGTGCTCTATAATGCATGGAATTAAAAATGGGCTGCACGTTAACATTTTTAGCTCAGAACATGTTGGTCAAGCCACATTTATCATCATTCTGTCACAGAGTTGTGATTGAGGGCAGCTTAGGAGCATAGTATTGAGGGCAACACCATGGACAGAGCTGGAGTGGTCTGTGCTCTAGAGGGACTTTTGGTTGTCAGGGGCAATGGGGAGCAAACCCACCTCCATAACAGGAGAGACCCAGAGGGGAGAAGTATGTGTCCAGTTTTAAGACCAGAAAAGAGAAGGATTACATAGTTGCCTAGAGAAGTGAGCATGCACCAGGGCTGGGCGCAGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGCCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCCATCTCTACCAAAAACACAAAAAGATTAGCCAGGCATGGTGATGCACACCTGTAGTCCCAGCTACTGGGAAGGCTGAAGCAGGAGAATCTCATGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGGTTGTGCCATTGTACTCCAGCCTGGGCTGCACAGCCAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGAGAAGTGAGCACGCACCAAAGACTTGAAGGGTAGAATTTGGTTAGGTAGACAGTTAGAAGGTGAAGTTTCAGTGCGGGTGGGGG
|
CTGCAGCCTCAACCTTCAGGGCTCAGGTGATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTGTAGGTACGTGCCACCAGGCCTGGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCTAGGCTGGTCTTGAACTCCTGGACACAAGCAATCTGCCCACCTTAACCTCCCAGAGTGCTGGGATTATAGATGTGAGCCACCGCATCCGGCCCTTTGTTTCTATTTGAGAGGAACTATGCATTGCCACCTGCTTTCTTTCCTAAGTCAGATGTCCCTCATTCTTGTTCATTCCTTCTTCTCTTAGATCTCTTGGATATTGATATCCTGTCTTGGTTACAAGGAGTTATGTTGTTTTGTTTTCTGTTAGGTCTCTCTGACAACTGAAAAAAAATTTTCCCCTGAATTCACTTTTTCCTAGTCCATTCTTTTTTATCTATATTCTGTTCTCAAGAAGATGACAGTAAGATTGTCTCAAGCTGTGGCTAAAATTAAACTTTAGCTTAATGGGCTCTTATTGAGCTGGAAAGGAACAAATGCATTAAACTCCAGGATTTTGTGTGTGTGTGTGTGTGAGACAGTGTCTCACTCTGTTACGTAGGCTGGAGTACAGTGGCGTGATCTCAGATAACTGCAACCTCTGCCTTTTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATACATCACCACACCTGGCTAATTTTTGTATTTCTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGATCTCAAGCAGTCCACCCACCCCGGCTTCCCAGTGTGCTGGCATTACAGGCGTGAGTCACCGTGCCTGGCCAAATTTTTATTTTATTTTTTTCATGGAAACCATCCTGCTGAATACCTGGAAATGCCTATTTTCTTTTGTACTTGCCTTTAATATTTAAAAGTTAAATAAGTGAGAAATAGATCTGAATCATTTGGCTGTAACTGGGGGGTCATGCCTAAACCCCGTTCTGCCCCCTTATCTCTGCTATAATCAGTCACACTACTTGTTTCTTTCTGTGTCCTTTCCCCTCCATTATTGTCTCCACTGGTTCCCTTCCAGGTCACTTAGAACTCTTGGTGTTTCTTCAGTGACCTTCATCTTTTCATGCTTCTGTGCTTCTCCTCCTCCCACTCTTCATGTACACTTTATTGGAACCATATTCTGCAAACAGTTTGCTTCGCTTCTTCCTCCTGTTTAGCTGGCCTTTCAGTAGCCAAGGCCCTCCTTCATCAGGGTTCCCTGTCTTCCTCATTCCTATCCTCAGAGGCTCTCTTCCTTCTTGGCTAATCTTGTGGTCTCCTGCACGTTTTGCCTCTTTCAGGTTTGGGATTTCACAGGTATCATTTCATCTACCCAGATGCCCTCTTCCTTCAATCGCTGTTAACTTTGTTGAACACTTAGCTCTACAAGTTCTCCTTTCCCAGGAAGCCTCATTTTGTAGACTTGACTAATTGTAATTTGTTTCCTACTCTGCCTTTTTTGCACTTAAACATCTTCTGCTTCTTAGAGTCACAGTTGTTACTCTCCTAGGTATTAACAGAATCATTTGGTGTTTCACTTGTATTTCCCTCTTACTGAGTTTGTGTTAGCCCTCCTGGCAAGGGGCCATGCCTCCTATACTTGTATATTTCACTGTGGCTATTCAGTTGACACACCTGAGGCAGAATATCCTAAAATATTCTTAACAGATTAGACAGGATGATAAAGGTGAGGCTCCTTAGTAGGATGGGTCCTGCTTGGAAGAGCAGATGTCCTTTGGGAGCCACCCTCTGTGGTGTGTTCTTCTTTCAATCTCACCAACATCTGTATCCCAGTAGCTGGAAAGAAGGGAGAGTATAGTTAAGTGCACAGCACTAGCTATCAGGTGGGAATGATGCTCAGTGGTTCTTTATCTGGGTAGGGCCATCCGGAGAAGCCATCCAGATCCACCACCAGACCCGACAGAATATGGCGGAGCTACAAGGCAGCGGGCAGAGGGATCCAACTCACTCCTGCAGAGCTGCTGGAGTTAGCATATCATGAAGCTGCTGGAAGGTGAGGATGTGCACAGGGCTCTGGAAGGTAACCTGAGAACACTCTCCAGCACCCAGGACAATGTGCAGAACAGACTATTGACAAAATGTTGTTTAGAAGACTTGAAAAGACAGTATGAGGTCAGGGCCTTCCTTTGTTGGCCAGTGGCATTCCCTTCAGTTGGTGAAGGGCAAAGCAAACATCCTGACATTTTTGCCTGAGATGTTACCTAGGCCCTGTTTTAGGTTTATTTTGAATCCAGAACACACTTTGTAAACCTCAAACGTGGGTTTTTCTAAACCTCAGTCAAAGGTGAATCCAAGAGAGGAAATTCTTTGGATTTGGAATGCTGAGACAGGAGATTCATGCTGTGTGTTTTGGGCAACCTCTCTGACTTTTGTGATTTTGGTCATTCAGAAATAAATCCCACTGTTGAGTTTAGAATAAGTTAATGCTAAGGGCAATGGAAATGAAGGCTTATGTTTATAGAAACAACTCTTTTTGAACCAATGCTCTGAATGTGTTACGAACATCCAGTGAGAGTCAGTGTAGGAGGAAAGTCATTTAAGCCTTGACAGGCGTGAGCCCGGGTTACACCTGGACTCAATATTCCTGTTGCTTTAGAAAACACTTTGCAAAATGCAGTCTTTGGCCCCTCTTTCAGTCACCTTGACACCCTAGGGGATAGATAAGGGATATGGGGAGGGCGTGACCTTCTTAACCAGATGAACTCAGGTCCATATATTCAAGCACCTCACACCCATCCTTGTTTGTAAAAGGGAGGCATAGGGCATAGGGAGGCATAGGGAGGCATAGGGCAGACAGGGCGGGTGGTCTAGCTTGGTGGTGGGAAAGCAGCAGGGGTGCCAGGGTCACAAGGAGCCGGCACTGACACACAAACTAAGCACTGTGGCCTGGTGGCTTAAGATAAGGATTCCAGTGGCTGCCAGCTTGAGTTGGCTGAATATTCAGGCCTGATTTTTATGAACCTACCTCCCACCCCCGGGATATAGGTGAGCAGGAAAAAGAGGTGATGATCTACATTAAGCCAGGTGGCTGGGCTCTGTTCTCTGCAGGCACAGCAATTCCCGCCAGCCTGGTGACGGCATGTCCTTCTTGAACTTCAGTGGAACAGAGGAGCTTTCTGTCGGCCTGCTTAGCAACAGTGGTGCAGGTAACCAATCCAAGAGGTAATAGAGTTGGGATGTTTAGATCAGGCTCACATCTGGAAATGACACAAGGGCCAGAAAAGCAGGGCCATGTCTATTTTGAGATCATTTCAGCCACACTTTTGGGTGACCTATTTAGAAACAGTGCTCTATAATGCATGGAATTAAAAATGGGCTGCACGTTAACATTTTTAGCTCAGAACATGTTGGTCAAGCCACATTTATCATCATTCTGTCACAGAGTTGTGATTGAGGGCAGCTTAGGAGCATAGTATTGAGGGCAACACCATGGACAGAGCTGGAGTGGTCTGTGCTCTAGAGGGACTTTTGGTTGTCAGGGGCAATGGGGAGCAAACCCACCTCCATAACAGGAGAGACCCAGAGGGGAGAAGTATGTGTCCAGTTTTAAGACCAGAAAAGAGAAGGATTACATAGTTGCCTAGAGAAGTGAGCATGCACCAGGGCTGGGCGCAGTGGCTCATGTCTGTAATCCTAGCACTTTGGGAGCCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCCATCTCTACCAAAAACACAAAAAGATTAGCCAGGCATGGTGATGCACACCTGTAGTCCCAGCTACTGGGAAGGCTGAAGCAGGAGAATCTCATGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGGTTGTGCCATTGTACTCCAGCCTGGGCTGCACAGCCAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGAGAAGTGAGCACGCACCAAAGACTTGAAGGGTAGAATTTGGTTAGGTAGACAGTTAGAAGGTGAAGTTTCAGTGCGGGTGGGGGNN
|
pathogenic
| 325,863 |
Does the chromosome 22 mutation at position 31847034 within gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
benign
|
ACCACCACCCTGTGTTTTCCTTGCCCCCTTAGCTTAATTGAGTCCCTGAAGTTCTGGAGGACCCGCTTCCTGCTGCTGCCAGCCTGTGTCACCGCCACCAAGCGCATCACGGAGGGGGAGGCCCACTGCGACATCTATGGGGACAGGCCCCGTGCAGACGAGGACGAGTGGCAACTCCTGGATGGTTTTGTCCGCTTTGTGGAGGGCTTGAATCGCATTCGCAGGCGGCATCGCTCGGATCGCATGATGCGGGTAAGGGCTCCTTAGACTCAGGGAGTGCGCCTGGTGTGAGATGCAGGGCCTGCCACCTCCTCTATTAGGGGCCTCTCATCATCAGCCTACTTATTTACTCCTCAGCTGCCCAGTGTTTACCTTAAATCCAAAACAGTGTTTTCTCCTCCACCGCGGGGTAAAGGAGGAAGGGATAGAGTGCAGGCAGTGACTGGGTGGTGTTCTGTGGCATAGAGCCATTCCCTTCCACCTGAGGACATGGTGCCTTGAGGTGCTCCCCAAGTGGGACCCTATGTTGAGCACAGCTGCTTGTGTGACTGGGTGCTGAACCTCTGAGTAGAAACTCTCAGGAGGTGAACAGCAGCAGTCCTTCCTCACTCTTCTTGCTCCAGAGTTCCCAGCACCCTGTGCCTTATTTCAGTCACACACCACCCAGTGCGGAGACTCAGGCTTCTGGGGGTTATGGAATATGCCAGCTATAAGGGGCAGAACTGGGATTCAGCATTTTTTTTAAACATATAGTATAATTGACGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTACACAGGTCTGTGAATTTTAACAAATATATAGATTCATGCAACCATCACCATCACTTCAAAAAAATTCTCTCATGCTAGTCTTTTTTTTTTTTTTCGAGACAAGGTCTCACTTTGTTGCCCAAGCAGGAGTGTGGTGGCATGATCATGGCTCACTGCAGCCTTGACCTCCCACCTTAGGCTTCCAAGTAGCTGGGACTAAAGGTGTGCATCATGTCCAGCTAATTTTTTGTATTTTTTGTAGAGATGGAGTTTCCCCATTTTGCCCAGGTTGTTTTCAAATTCCTGGACTAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGACTTATGCTAGTCTTGATAGTCATGTTCTCCCCCATCTCTAATCCCTGGCAACCACTGGTGTGTTCCTTATCACTGTACTTTTGTCTTTTCCAAACATCACAGAAAAGAGAATCACATAATATGTGACCTTTTGAGGCTGCCTTCTTTCACTTAGCATAATGCCTTCTGATTCATCCAAGTTGTGTGTGTAAGTAGTTCACTCTTTTTAATCACCAGGGAATGTTCCATCATCAGCCATGTTTTTTTTGTTTTTAACCTCAAGTTCAGTATTCTTCCTCTCACACCAGCTGCCTTATGTACACAACATCACTTACGATTAGAAACGTGTCTGGGAGAGCTTGGATAGTGGGAAGAACTTTGGTTTTGAAGTGAGGTCACTGGAGTTTGGATTCCAGCTCCAGTAGGATGTGGGATAAGTTCCTTAACCTCTCTGAGCTTCAGTTTCTTCTTCTGTAAAATAGGGCTAACATTATTTACATCATAGATCTGTGGTGAGGGTGAAATGAGGATGTGCAAATAAAGGGGCAGTTTATTTTTAGCTGACCAGGCATTTGAATGAAAGGCGGTTTTCTGTCACTTACTGAACACTGAGAACCTGTGTTCCTTGACCCTGTCCATGGGATTCCCGGGGCCTGGGAATGCTGCAGCATGCCCTGGGGCATGAGTGGCTTCCACTGAGAGCCCACTTGGCTGATGGCCTTGTCTCCTCTTCTCTGCTTTAGAAAGGGACCGCCATGAAAGGCTTGCAGATGACTGGGCCCATTTCCACGCATTCTCTGGAGTCAACTGCACCCCCAGTGGGGAAGAAGGGAACCTCAGCTCTCTCTGCCCTGTTGGAGATGGAGGCCAGTCAGAAGTAAGTGCTTGGTGGAAGACTGACTTGTCCCCACCTTGACAGCCCTGAGGGTTTTCAGTGCCCTGTTCCCTTGAGGGGGTGAAATATTTCCTTTACAAGGAGCTTGTAATTAGGGAGAAGGCATTTATGTGAAAAGGAAGGCTAATACCTGGTAGGTGTTGGATAACATGAAATAGGCCAGAAGTTATAAACTTTTAGATTGGGACTTAATTTTAATTACAGACTCATTTAATTTAGCCCACAAAGTATTTCAACATATTTGAGCCGGGGCCAGGTGTGGTGGCTCAGGCCTATAATCCCACCACTTTGGAAGGCCAAGGTGGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTTTACTGGGGAAAAAAAAAAAAAAGCCAGGTATATTAGTCCATTCTCACACTGCTAATAAAGACATACCTGGGACTGAGTAATTTATGAAGGAAAGAAGTTTAATCAACTCACAGTTCTGCAGGGCTGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAAAGGGAAGCAAACACATCCTTCTTCACATGGCAGCAGCAAAAAGTGCAGAGTGAAGGTAGGGGAAAAGCCCCTTATAAAACCATCACATCTCGTGAGAACTCACTATCATGAGAACAGCCTGGAGGTAACTGCCCCCATGATTAATTTACCTCCCACCTGGACCATCCCATGACACGTGGGGATTATGGGAACCATAACTCAAGATAAGATTTGGGTGGGGACACAGCCAAACCATATCATTTCACCCCTGGCCCCTCCCAGTTCTCATGTCCTTGCATTTCAAAACACAGTCATGCCTTCTCAACAGTCCCCCAAAGTCTTAATTCATTCCAGCATTAACTCAAGTCCAATGTCTCATCTGAGACAAGGCAAATCCCTTTTGCCTATGAGCTTGTAAAGTCAAAAGCAAGTTAGTTACTTCCTTGATACAATGGGGTATGGGCATTGAGTAAATACACCCATTCCAAATGGGAGAAATTGGCCAAAACAAAGGGGCTACAGGCCCCATGCAAGTCTGAAATCCAATAGGGCAACCATTAAACTTTAAAGTTCCAAAATGATCTCCTTTGATTCCAAGTCTCACATTCAGGGCATGCTGATACAAGAGGTAGGCTCCCAGGCCCTTGGGTAGCTCCAGCCCTGTGGCTCTGCAGGGTACCACCCCACTTCGGGCTGCTTTTACGGCCTGGTGTTGAGTGTCTGCCACTTTTCCAGATGCATGATGCAAGCCGTCGGTGGATCTGCCATTCTGGGGTCTGGTGGATGGTGGCCCTCTTCTCACAGCTCCACTAGGCAGTGCCCCAGTGGAGACTTTTTCCTTCCGCACTGCCCTAGCAGAGGTTCTCCATGAGGGCCCTGCCCCTGAAGCAAACTTCTGCCTCCCCTGAAATCTAGGCAGAGATTCCCAAACCTCAGTTCTTGACTTCTGTGTACCTGCAGGCTCAACACCACATAGAAGTTGCCAAGGCTTGGGGCTTACACCTTCTGAAGCCATGCCTGAGCTGTACATTGGCCCCTTTTAGCCATGGCTGGAGTGGTTGGGATGCAGTGCACGGAGTCCCTAGGCAGCACACAGCAGGAGGCCAGGCCCAGGAAACCAATTTTTCCTTCTAGGCCTCCAGCCCTGTAGTGGGAGGGGCTGCATGAAGGTCTCTGACATGCCCTGGAGACATTTTCCCCATTGTCTTGGTGATTAACATTAAGCTCCTCCTTACTTATGCAAATTTCTGCAGTAGGCTTGAATTTCCTCCCAGAAAATGGGTTTTTCTTTTCTGTCACATCATCAGGCTGCCAAGTTTCCAAACTTTTATGCTCTGCTTCCTCTTGAACACTTTGCCACTTAGAAATTTCTTCCGCCAGATACCCTAAATCATCTTCTCAAGTTCAGAGCTTCATAGATCTCTAGGGCAGGGGCAAAATGCCACCAGTCTCTTTGCATAGCAAGAGAGACCTTTACTCCAGTTCCCAACAAGTTGCCCATCTCCATCTGAGACCACTTCAGCCTAGACTTCATTGTTCATATCACTATCAGCATTTTGGTCAAAGCCATTCAACAAGTCTCTAGGAAGTG
|
ACCACCACCCTGTGTTTTCCTTGCCCCCTTAGCTTAATTGAGTCCCTGAAGTTCTGGAGGACCCGCTTCCTGCTGCTGCCAGCCTGTGTCACCGCCACCAAGCGCATCACGGAGGGGGAGGCCCACTGCGACATCTATGGGGACAGGCCCCGTGCAGACGAGGACGAGTGGCAACTCCTGGATGGTTTTGTCCGCTTTGTGGAGGGCTTGAATCGCATTCGCAGGCGGCATCGCTCGGATCGCATGATGCGGGTAAGGGCTCCTTAGACTCAGGGAGTGCGCCTGGTGTGAGATGCAGGGCCTGCCACCTCCTCTATTAGGGGCCTCTCATCATCAGCCTACTTATTTACTCCTCAGCTGCCCAGTGTTTACCTTAAATCCAAAACAGTGTTTTCTCCTCCACCGCGGGGTAAAGGAGGAAGGGATAGAGTGCAGGCAGTGACTGGGTGGTGTTCTGTGGCATAGAGCCATTCCCTTCCACCTGAGGACATGGTGCCTTGAGGTGCTCCCCAAGTGGGACCCTATGTTGAGCACAGCTGCTTGTGTGACTGGGTGCTGAACCTCTGAGTAGAAACTCTCAGGAGGTGAACAGCAGCAGTCCTTCCTCACTCTTCTTGCTCCAGAGTTCCCAGCACCCTGTGCCTTATTTCAGTCACACACCACCCAGTGCGGAGACTCAGGCTTCTGGGGGTTATGGAATATGCCAGCTATAAGGGGCAGAACTGGGATTCAGCATTTTTTTTAAACATATAGTATAATTGACGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTACACAGGTCTGTGAATTTTAACAAATATATAGATTCATGCAACCATCACCATCACTTCAAAAAAATTCTCTCATGCTAGTCTTTTTTTTTTTTTTCGAGACAAGGTCTCACTTTGTTGCCCAAGCAGGAGTGTGGTGGCATGATCATGGCTCACTGCAGCCTTGACCTCCCACCTTAGGCTTCCAAGTAGCTGGGACTAAAGGTGTGCATCATGTCCAGCTAATTTTTTGTATTTTTTGTAGAGATGGAGTTTCCCCATTTTGCCCAGGTTGTTTTCAAATTCCTGGACTAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGACTTATGCTAGTCTTGATAGTCATGTTCTCCCCCATCTCTAATCCCTGGCAACCACTGGTGTGTTCCTTATCACTGTACTTTTGTCTTTTCCAAACATCACAGAAAAGAGAATCACATAATATGTGACCTTTTGAGGCTGCCTTCTTTCACTTAGCATAATGCCTTCTGATTCATCCAAGTTGTGTGTGTAAGTAGTTCACTCTTTTTAATCACCAGGGAATGTTCCATCATCAGCCATGTTTTTTTTGTTTTTAACCTCAAGTTCAGTATTCTTCCTCTCACACCAGCTGCCTTATGTACACAACATCACTTACGATTAGAAACGTGTCTGGGAGAGCTTGGATAGTGGGAAGAACTTTGGTTTTGAAGTGAGGTCACTGGAGTTTGGATTCCAGCTCCAGTAGGATGTGGGATAAGTTCCTTAACCTCTCTGAGCTTCAGTTTCTTCTTCTGTAAAATAGGGCTAACATTATTTACATCATAGATCTGTGGTGAGGGTGAAATGAGGATGTGCAAATAAAGGGGCAGTTTATTTTTAGCTGACCAGGCATTTGAATGAAAGGCGGTTTTCTGTCACTTACTGAACACTGAGAACCTGTGTTCCTTGACCCTGTCCATGGGATTCCCGGGGCCTGGGAATGCTGCAGCATGCCCTGGGGCATGAGTGGCTTCCACTGAGAGCCCACTTGGCTGATGGCCTTGTCTCCTCTTCTCTGCTTTAGAAAGGGACCGCCATGAAAGGCTTGCAGATGACTGGGCCCATTTCCACGCATTCTCTGGAGTCAACTGCACCCCCAGTGGGGAAGAAGGGAACCTCAGCTCTCTCTGCCCTGTTGGAGATGGAGGCCAGTCAGAAGTAAGTGCTTGGTGGAAGACTGACTTGTCCCCACCTTGACAGCCCTGAGGGTTTTCAGTGCCCTGTTCCTTGAGGGGGTGAAATATTTCCTTTACAAGGAGCTTGTAATTAGGGAGAAGGCATTTATGTGAAAAGGAAGGCTAATACCTGGTAGGTGTTGGATAACATGAAATAGGCCAGAAGTTATAAACTTTTAGATTGGGACTTAATTTTAATTACAGACTCATTTAATTTAGCCCACAAAGTATTTCAACATATTTGAGCCGGGGCCAGGTGTGGTGGCTCAGGCCTATAATCCCACCACTTTGGAAGGCCAAGGTGGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTTTACTGGGGAAAAAAAAAAAAAAGCCAGGTATATTAGTCCATTCTCACACTGCTAATAAAGACATACCTGGGACTGAGTAATTTATGAAGGAAAGAAGTTTAATCAACTCACAGTTCTGCAGGGCTGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAAAGGGAAGCAAACACATCCTTCTTCACATGGCAGCAGCAAAAAGTGCAGAGTGAAGGTAGGGGAAAAGCCCCTTATAAAACCATCACATCTCGTGAGAACTCACTATCATGAGAACAGCCTGGAGGTAACTGCCCCCATGATTAATTTACCTCCCACCTGGACCATCCCATGACACGTGGGGATTATGGGAACCATAACTCAAGATAAGATTTGGGTGGGGACACAGCCAAACCATATCATTTCACCCCTGGCCCCTCCCAGTTCTCATGTCCTTGCATTTCAAAACACAGTCATGCCTTCTCAACAGTCCCCCAAAGTCTTAATTCATTCCAGCATTAACTCAAGTCCAATGTCTCATCTGAGACAAGGCAAATCCCTTTTGCCTATGAGCTTGTAAAGTCAAAAGCAAGTTAGTTACTTCCTTGATACAATGGGGTATGGGCATTGAGTAAATACACCCATTCCAAATGGGAGAAATTGGCCAAAACAAAGGGGCTACAGGCCCCATGCAAGTCTGAAATCCAATAGGGCAACCATTAAACTTTAAAGTTCCAAAATGATCTCCTTTGATTCCAAGTCTCACATTCAGGGCATGCTGATACAAGAGGTAGGCTCCCAGGCCCTTGGGTAGCTCCAGCCCTGTGGCTCTGCAGGGTACCACCCCACTTCGGGCTGCTTTTACGGCCTGGTGTTGAGTGTCTGCCACTTTTCCAGATGCATGATGCAAGCCGTCGGTGGATCTGCCATTCTGGGGTCTGGTGGATGGTGGCCCTCTTCTCACAGCTCCACTAGGCAGTGCCCCAGTGGAGACTTTTTCCTTCCGCACTGCCCTAGCAGAGGTTCTCCATGAGGGCCCTGCCCCTGAAGCAAACTTCTGCCTCCCCTGAAATCTAGGCAGAGATTCCCAAACCTCAGTTCTTGACTTCTGTGTACCTGCAGGCTCAACACCACATAGAAGTTGCCAAGGCTTGGGGCTTACACCTTCTGAAGCCATGCCTGAGCTGTACATTGGCCCCTTTTAGCCATGGCTGGAGTGGTTGGGATGCAGTGCACGGAGTCCCTAGGCAGCACACAGCAGGAGGCCAGGCCCAGGAAACCAATTTTTCCTTCTAGGCCTCCAGCCCTGTAGTGGGAGGGGCTGCATGAAGGTCTCTGACATGCCCTGGAGACATTTTCCCCATTGTCTTGGTGATTAACATTAAGCTCCTCCTTACTTATGCAAATTTCTGCAGTAGGCTTGAATTTCCTCCCAGAAAATGGGTTTTTCTTTTCTGTCACATCATCAGGCTGCCAAGTTTCCAAACTTTTATGCTCTGCTTCCTCTTGAACACTTTGCCACTTAGAAATTTCTTCCGCCAGATACCCTAAATCATCTTCTCAAGTTCAGAGCTTCATAGATCTCTAGGGCAGGGGCAAAATGCCACCAGTCTCTTTGCATAGCAAGAGAGACCTTTACTCCAGTTCCCAACAAGTTGCCCATCTCCATCTGAGACCACTTCAGCCTAGACTTCATTGTTCATATCACTATCAGCATTTTGGTCAAAGCCATTCAACAAGTCTCTAGGAAGTGN
|
benign
| 325,917 |
For chromosome 22, position 31870579, gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
benign
|
GTCTTCTCACTTCACTCTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCACGCCTGGCTAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCGTGTTGCCTAGGGTGGCCTCGAACTCCTGGACTCAAGTGATCCACTCGCCTTCGCCTCCCAAAGTGCCAAGATTACAGGCGTGAGCCACCGCACCCAGCTGAGAAGCTTTGTTTTAGAAAGCAATTTTTGCTAACAAAATATCTGATAGAAAGATCCCTTCTGGAAGTACCTAAAAACCTCAAGTTAGGAGGTTCTAAGAGCCTTACACTTTTCCAGAATTGCTCTAAAAGACTTAGTCATTCTCTTCATATACTTGCTCTGGGTATAATCTTTGATGCATGCTGCTGGGCTTCCGGGTGAACAGGTTATAATCCTGCCTCCAGGACCCTTAAAGGTGATATAACAACATTACAGGCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGAAGGATCAGTTGAACCCAGGAGTTTGAGATCAGCCGAGGCAACATAGCTAGACTCTGTCTCTACACACAAAAAAAAGTCAGGTATGGTGGCGCATGCCTGTAGTCCCAGTTACTTGGAAGGCTGAGACAGGAGGATTGCTTGAGCCCAAGAGTTTGAGGTTACAGTGAGATGTGATGGCACCATTGCACTCCAGCCTGAGCAAAAGAGGGCAACCCTGTCTCTGGAAAAAAAAAAAAAAAGATGCAGCACCATTACATGAGGCACAGCTTGGCAGCTACCAGAAGCTCATAGAGGTCCAGAGTAGAGAGGGAGATGGATCTCCTTGAGGCCTCGGGCGGACTGAATCGGAACAGTTTGCTAAGGGAGCAGCGTTTAAAATGGCCCTAAAGACTGATGGGATTAGCCAGGTGTGGTGGCTCCCACCTGTAATCCCTGCTACTTGAGAGTCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTCGGTGACAGAGCAAGAGTCTGTCTTTAAAAAAAAAAAAAAAAAAAAAGACTGATAGGTTTTTAGCCACTAGTTGTGGAGAAGAGCACCCCAGGGCGATATGGGGCACATAGACAGGATTTATACACACACGGTGTCATTTGGCTGGACACATACACATGGGTGAATGGTAGGCAGTGTGGTGAGATCTCAGGTCAAGCCAATGTTGTGCAGGACCCGTGATGTCCTGTGAGTCGGTTTTCAGTGTGGTGGTTCATGGGGAGACTTGAAAGTTTTCAGAGTAACAGAATGATGGGATTGGAACTGTTCTTGACAGACGATGCAAATGGAGCTGGCTCACAGGGAGGGTTTTTGAGGGAGAGGCTGCAATCAGGGGCTATTTAGAAGAATGTTACAGCCCTCCCTGGCCAGAGGAAGTACAGGCATGATTTAGAGATGCATGTGAATCTGCAGAGGGCAGGCCGTGGGACTAGGCCTGTCTTTAGATGCAAAGCTGGAGAAGAGAGCTATCAGATGGCTCTGAGAGTTGAACCTGAGCAAACTGAAAGGTAGAAGAAAGGAGGTTTTGGGTGGGAAAGGGTGAGTCACGGTAGGCAGAAGATGTACATTGTGATGTTCACCTATTTGTCTCTAAATGTGGTCTTTCAGTCCTGCTGTCCTCATAAGGAGTGATTCTGACTTCTCCACTCTTTCTATGGAGATTTTTCTTTAGTGTAAATCGTGTGGTTTGAGGCAGGTGCTGAAGCGATTTCTTTGGTCCTGGGGATTTACTGTGAAGAGTGGCCTCTCATCTGCCCTGGTTGGAGGGTGGGAGTTCCCAGCTGCTCTGATAGAAGGCAGTGCACACAAGACTGGGTAGAGTCTCTAGACAACTTTAGCTGTGCCACTAGGGACCAAGGGGTAGTGGGAATGAGCAGAATGGGAAGGATTGCATTAATTTTTGTTTATTTTTTGTGAATGCTTACTGAGTGAATAAGCCAGTACAGCTTATTTACTGTGTTTTCCTGTCAGTTATTTTTGGAATCAAGTATTCATTTTTAAATCTCCTGCAGGTATCTGTGGACCAAACAGCCACTCCTATGTTGGACGGCACCAGTTTGGGCATATGCACAGGCCAATCCATGGACAGAGGCAACAGCCAGACCTTTGGGAACTCCCAGAACATAGGAGAACAGGGCTACTCCTCCACAAACTCCAGTGACAGCAGGTGAGATTCAGAGTGGCCAAACTCATGTTCCTGGGGAGTGGGGACAGTCTGATCTCAAAGGCTGCAGAGGCTGAAGTCCAAAGCTCTGGGCCGAGTTCTGACTCTGCCACAAGTCACATGCGACCCTGGGCAAGTTAGTCCTTAACCACATCTGTATGATGGGACTAATGATCTGTTTCCTGCCATCCTCACAGGATAGCTAAGAGGTTCCCACAGAGATGTAGGAAAGTGTCAGGCACCACACAGGAGTACAGGGCTTCCGGAAGGGGGCTCTGTCCAGTCTGTCTTGTTCACTGTGGTGCCTGTGGCACAATGTCTTGCACGTCATAGCATGCTGTCAGTAAGGAAAAGAACAAACAGTGGATGAATCACTAATTGTGGCCAAACATGACTGTTCTTCTTCTATTCCTTAGTATCCGGAGGAAAAGGAAGCTGTGTGTACTTCATTTGCTCGAGCAAGTGCACCAGCTTTTACTACTGTTGTCAATTCTGAGAAACCGTTTTATTTTCTTCCCAGCTGTGTTTGCTTTATAGTAATTATGCCGCAGTCTTTTCTTATTGTCTCACTGTATTGACGAAGCAGTCCTTGGCAAAATCATCTAAGAGACTTAACTTTTATACCCCTGCCCTGAGAGCAGAAAGTTCTCTGGGGCTGCTCACCTGGCTGGCCTCTGTCAGGAGTCACTCCATTTCCCTTATGTCATAAATTCTGTGCTGGTGTAATCTGTGTCTCATCTACTGCAGCCTGTTCATTCTGGCCAGTAGAGGTGATGGTCATTTCAGAAGCAGGAGCAGGTCTGAACTTCTCTGCTCCCTGCCTTCGCTCATGCCCTTATACCCATCAAGCCTACCTGGCTTTTTGGCTGTAGGCGTGGAGGAGATTGGAGAGGCTGCCCAATGCATAGAAAAAATCTGCTTCCTCATTGCTTACAAGGGTAGAACAGTAGGTTTACTTCTGCTTTCAGAAGAAATGAGGAATCGGGGATATTTAGGCTGGAGGTGAAAAGACCAAAAATGACATGGCAGGTAGAATCAGGACCAATGACTGAAAAATACAGAGAACAGATTCTATTTCATGATGAAGAACTTACTAGCAGTGGGTCCTGCTGCACGGAAATGGGCTGCACTTAGAGGTGCCAAGTTCTTTGCCATTGAAGATGTTCACACAGATAGGACAGCCTCTTGCCCAGACACGTGGTCTCAGCAGAGACTCAGGCATTAGAAGGAAGTTCATTTCAAGGGTCTTTGAAAACTTTTTCTAACCCTGAAATTCTGAAACACTTCCAGTGATTTCTGGACCCTCTGAATAGTCATGAAGAGTAGTCTGGGACTGAGGAAAGGGAGAAGTTCAAAGAACTTGAGGAGCTTCTGGATAAGCCCCACAGCTGGCCCAGTTCGGTATAGTGGGTGGCCACTCAGCTGCTGAGTATTAAGCACGTTTTAAGGGACCATCACACCTTTGAGCAAGAATGTGGGCAGCAGGTGGTGGAAAGGACTTTGGAGAGAGACTGACCTGGATTCAGATCCACATCCTGGTACTTCTGGCTCTTTGACCTTCAGCAGTTCCTTTAGTCAGTTTCAAAGGGTCGGTGTTAATTATTTTAGTATTGTTTACCACTTTGGGCTTCCTGTGTGTCAGCCCTGTACATGTGCTCAGCATCGTATAAACATTCGCCTCACATCAGCCCTCAAAGACAGGAACAGCATTAACCCCATTTTTCACATGGGGGCGCTGAGGCCAAGAAAAGCTATGTAGCAGGTTAGTGATGATACTGGGATTCCATTCCCCATGCTCTTAGGGTGTTACCTAGTACTCTGGTCAGGATTCAATGAAGCTACCTGTGAAAGGCTCTTGGGGCAAACCCAGAGCAGTCCAGGGGGT
|
GTCTTCTCACTTCACTCTCCCAAGTAGCTGGGACTACAGGCGTGTGCCACCACGCCTGGCTAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCGTGTTGCCTAGGGTGGCCTCGAACTCCTGGACTCAAGTGATCCACTCGCCTTCGCCTCCCAAAGTGCCAAGATTACAGGCGTGAGCCACCGCACCCAGCTGAGAAGCTTTGTTTTAGAAAGCAATTTTTGCTAACAAAATATCTGATAGAAAGATCCCTTCTGGAAGTACCTAAAAACCTCAAGTTAGGAGGTTCTAAGAGCCTTACACTTTTCCAGAATTGCTCTAAAAGACTTAGTCATTCTCTTCATATACTTGCTCTGGGTATAATCTTTGATGCATGCTGCTGGGCTTCCGGGTGAACAGGTTATAATCCTGCCTCCAGGACCCTTAAAGGTGATATAACAACATTACAGGCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGAAGGATCAGTTGAACCCAGGAGTTTGAGATCAGCCGAGGCAACATAGCTAGACTCTGTCTCTACACACAAAAAAAAGTCAGGTATGGTGGCGCATGCCTGTAGTCCCAGTTACTTGGAAGGCTGAGACAGGAGGATTGCTTGAGCCCAAGAGTTTGAGGTTACAGTGAGATGTGATGGCACCATTGCACTCCAGCCTGAGCAAAAGAGGGCAACCCTGTCTCTGGAAAAAAAAAAAAAAAGATGCAGCACCATTACATGAGGCACAGCTTGGCAGCTACCAGAAGCTCATAGAGGTCCAGAGTAGAGAGGGAGATGGATCTCCTTGAGGCCTCGGGCGGACTGAATCGGAACAGTTTGCTAAGGGAGCAGCGTTTAAAATGGCCCTAAAGACTGATGGGATTAGCCAGGTGTGGTGGCTCCCACCTGTAATCCCTGCTACTTGAGAGTCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTCGGTGACAGAGCAAGAGTCTGTCTTTAAAAAAAAAAAAAAAAAAAAAGACTGATAGGTTTTTAGCCACTAGTTGTGGAGAAGAGCACCCCAGGGCGATATGGGGCACATAGACAGGATTTATACACACACGGTGTCATTTGGCTGGACACATACACATGGGTGAATGGTAGGCAGTGTGGTGAGATCTCAGGTCAAGCCAATGTTGTGCAGGACCCGTGATGTCCTGTGAGTCGGTTTTCAGTGTGGTGGTTCATGGGGAGACTTGAAAGTTTTCAGAGTAACAGAATGATGGGATTGGAACTGTTCTTGACAGACGATGCAAATGGAGCTGGCTCACAGGGAGGGTTTTTGAGGGAGAGGCTGCAATCAGGGGCTATTTAGAAGAATGTTACAGCCCTCCCTGGCCAGAGGAAGTACAGGCATGATTTAGAGATGCATGTGAATCTGCAGAGGGCAGGCCGTGGGACTAGGCCTGTCTTTAGATGCAAAGCTGGAGAAGAGAGCTATCAGATGGCTCTGAGAGTTGAACCTGAGCAAACTGAAAGGTAGAAGAAAGGAGGTTTTGGGTGGGAAAGGGTGAGTCACGGTAGGCAGAAGATGTACATTGTGATGTTCACCTATTTGTCTCTAAATGTGGTCTTTCAGTCCTGCTGTCCTCATAAGGAGTGATTCTGACTTCTCCACTCTTTCTATGGAGATTTTTCTTTAGTGTAAATCGTGTGGTTTGAGGCAGGTGCTGAAGCGATTTCTTTGGTCCTGGGGATTTACTGTGAAGAGTGGCCTCTCATCTGCCCTGGTTGGAGGGTGGGAGTTCCCAGCTGCTCTGATAGAAGGCAGTGCACACAAGACTGGGTAGAGTCTCTAGACAACTTTAGCTGTGCCACTAGGGACCAAGGGGTAGTGGGAATGAGCAGAATGGGAAGGATTGCATTAATTTTTGTTTATTTTTTGTGAATGCTTACTGAGTGAATAAGCCAGTACAGCTTATTTACTGTGTTTTCCTGTCAGTTATTTTTGGAATCAAGTATTCATTTTTAAACTCCTGCAGGTATCTGTGGACCAAACAGCCACTCCTATGTTGGACGGCACCAGTTTGGGCATATGCACAGGCCAATCCATGGACAGAGGCAACAGCCAGACCTTTGGGAACTCCCAGAACATAGGAGAACAGGGCTACTCCTCCACAAACTCCAGTGACAGCAGGTGAGATTCAGAGTGGCCAAACTCATGTTCCTGGGGAGTGGGGACAGTCTGATCTCAAAGGCTGCAGAGGCTGAAGTCCAAAGCTCTGGGCCGAGTTCTGACTCTGCCACAAGTCACATGCGACCCTGGGCAAGTTAGTCCTTAACCACATCTGTATGATGGGACTAATGATCTGTTTCCTGCCATCCTCACAGGATAGCTAAGAGGTTCCCACAGAGATGTAGGAAAGTGTCAGGCACCACACAGGAGTACAGGGCTTCCGGAAGGGGGCTCTGTCCAGTCTGTCTTGTTCACTGTGGTGCCTGTGGCACAATGTCTTGCACGTCATAGCATGCTGTCAGTAAGGAAAAGAACAAACAGTGGATGAATCACTAATTGTGGCCAAACATGACTGTTCTTCTTCTATTCCTTAGTATCCGGAGGAAAAGGAAGCTGTGTGTACTTCATTTGCTCGAGCAAGTGCACCAGCTTTTACTACTGTTGTCAATTCTGAGAAACCGTTTTATTTTCTTCCCAGCTGTGTTTGCTTTATAGTAATTATGCCGCAGTCTTTTCTTATTGTCTCACTGTATTGACGAAGCAGTCCTTGGCAAAATCATCTAAGAGACTTAACTTTTATACCCCTGCCCTGAGAGCAGAAAGTTCTCTGGGGCTGCTCACCTGGCTGGCCTCTGTCAGGAGTCACTCCATTTCCCTTATGTCATAAATTCTGTGCTGGTGTAATCTGTGTCTCATCTACTGCAGCCTGTTCATTCTGGCCAGTAGAGGTGATGGTCATTTCAGAAGCAGGAGCAGGTCTGAACTTCTCTGCTCCCTGCCTTCGCTCATGCCCTTATACCCATCAAGCCTACCTGGCTTTTTGGCTGTAGGCGTGGAGGAGATTGGAGAGGCTGCCCAATGCATAGAAAAAATCTGCTTCCTCATTGCTTACAAGGGTAGAACAGTAGGTTTACTTCTGCTTTCAGAAGAAATGAGGAATCGGGGATATTTAGGCTGGAGGTGAAAAGACCAAAAATGACATGGCAGGTAGAATCAGGACCAATGACTGAAAAATACAGAGAACAGATTCTATTTCATGATGAAGAACTTACTAGCAGTGGGTCCTGCTGCACGGAAATGGGCTGCACTTAGAGGTGCCAAGTTCTTTGCCATTGAAGATGTTCACACAGATAGGACAGCCTCTTGCCCAGACACGTGGTCTCAGCAGAGACTCAGGCATTAGAAGGAAGTTCATTTCAAGGGTCTTTGAAAACTTTTTCTAACCCTGAAATTCTGAAACACTTCCAGTGATTTCTGGACCCTCTGAATAGTCATGAAGAGTAGTCTGGGACTGAGGAAAGGGAGAAGTTCAAAGAACTTGAGGAGCTTCTGGATAAGCCCCACAGCTGGCCCAGTTCGGTATAGTGGGTGGCCACTCAGCTGCTGAGTATTAAGCACGTTTTAAGGGACCATCACACCTTTGAGCAAGAATGTGGGCAGCAGGTGGTGGAAAGGACTTTGGAGAGAGACTGACCTGGATTCAGATCCACATCCTGGTACTTCTGGCTCTTTGACCTTCAGCAGTTCCTTTAGTCAGTTTCAAAGGGTCGGTGTTAATTATTTTAGTATTGTTTACCACTTTGGGCTTCCTGTGTGTCAGCCCTGTACATGTGCTCAGCATCGTATAAACATTCGCCTCACATCAGCCCTCAAAGACAGGAACAGCATTAACCCCATTTTTCACATGGGGGCGCTGAGGCCAAGAAAAGCTATGTAGCAGGTTAGTGATGATACTGGGATTCCATTCCCCATGCTCTTAGGGTGTTACCTAGTACTCTGGTCAGGATTCAATGAAGCTACCTGTGAAAGGCTCTTGGGGCAAACCCAGAGCAGTCCAGGGGGTN
|
benign
| 325,932 |
Is the genetic change at chromosome 22, position 31879643, within gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Familial_focal_epilepsy_with_variable_foci']
|
CAAAAAATAGCTGGGCATGGTGGTGGCCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGGTTGCAGTAAGATGAGATCACGCCACTGCACTTCCAGTCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGCAAAAACAGAAAACCAGACCAGCATCTCCAGTACACCTATAGCAAAAGGGGACCTTGCCTGTTCTGGAAGTGACTCCTATCCTGCAGACAAATGGCTTCTCTGCCTCTGGGTTTAAAGAATCAAACATGGCCGGGAGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAGACCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGATGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCTTCGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAGAATCTTACATGAGATGAAGCAGCTAGTGCCACTCCCCATGCTCTCTTGTCCAAGAATATGGCAGAAGTGGACGTGTGTGGGATTTTTTTGTATATCCATTGACACTTTTCCCTTTAAATTATACATTTGACCAGTAGATACCTATCTTACCTTCAAGTTGAAAACATACCAGGTTACTGTTATATATTCTGAAATTTGAGGTATGAAACTGATCATAAGGTCAAGTGTGGTGCTGACTCGTGCCTATAATCCCAGCGCCTTGGAAGGCTGAGGTATGAGGATCTCTTGAGGCCAGGAGTTTAAGATCAGCCTGGGCAAGAAACATAGCGAAACCCCATCTCTACAGGAAAAAAAAAAAAAAAATTGGCTGGGTGTGGTTGTACATGCTGGTCTTCACAGCTACTCAAGAAGCTGAAATGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTATAGTGAGCCATGGTTGTACCACTGCACTGAAGACTTGGCAAAGCTGTGCAGACCCTGTCTCTAAGAGAAAAAAAGAAATAAACTGAGCATAAAATATTTTTTAGGGCCGGGTACGGTGACACACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGTTGCTACTCAAGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTAAGCTGAGATCGTGCCATCGCACCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAATATATATATATATATATATATATACACACACACACACGTATATATATATACACATATATATACATATATATACACATATATATATACATATATATTTTTAATTGAAGTGAAATTCACATGATATAAAATTAACCATTTAAAAATGAACAGCTCAGTGCATTTAGTACATCCACAGTGTTGTACAACTATCATGTCCATCTAGTTCCTGACCATTTTCATCACCCTGAAATGAAACCCCATCCCCTTGAGGAGTCACCTTCCAACTCCTCCTCCCACCCCCAGCAACCAATAATCTGCTTTCTTTCTCAAAGATTTGCCTATTTGCTACGTTTCACATAAATGGAACTATACAGTATGTGGCCTTGTGTGTCGGCTTCTTTTACTTAGCGTGTTTTTAAGGTTTATCAAGTTGTAGCATGCATCATGAAGAAAATAAGCATTTGTGTTGAGTACTCCTTCTCTCCCCTCCACTTTTCCCAGTGGCCATGCAGCAGCCCGCCACCACCTGGCACACAGCAGGAGTGGACGACTTCGCCAGCTTCCAGCGCAAGTGGTTTGAGGTGGCCTTTGTGGCAGAAGAGCTCGTGCACTCTGAGATTCCTGCCTTTCTCCTGCCCTGGCTGCCTAGCCGGCCAGCCTCCTATGCAAGTAGGCACAGCTCCTTTAGCCGAAGTTTTGGAGGACGGAGCCAGGCGGCAGCACTTTTAGGTACATGCTCAACCCAGACAAGGTCTGAGGGTGTGCCAGTGGGTGGCTGCGGGAAAGTAGTGGCCAGCCAAGGGAACGATGCCACATGAACCAGGATTAGAGTCGCTGAGGCCGTCACACAGGCCACTGTGTCTGTCGGCACTGTTGGCTCCGTTGCTGACTTCCACTTGCCGAGTGGTTTTATGACTGTCCCAACCAACAGACGGTATTTAGCACCTCTCAAATCAGAACATAGTGCCAGACCTGTTCGGATAGGAGAGAAGAAATATGTGGCCAATTTTCCCGAGGGTTCTGTAGGATATAGGAGATGTGAGATAGTGCTCATTGCACCAGCTAGTTCCTGCCGGAGCCCCTCCCTACAACCATAGCATCCTATGATCTCAGAAGAGGAAGGAACCTAAAAGGTCATCCATTCCAGACACTCATGCAGAGCAAAAGTCTCTCTCTCTCTCTCCTCTTCCTTTCCTCCCCAAATGTGCTTACCATATTGAAGGATGTAAACTGAAACACTTCCCTCCTTTCCACCATTCCTGCAGCTCTAAGATGGGGGTAAACAGCTGCTTATTGAAAGGCAATGACCTCTGATAGGAAATGGGGAACTCTGAGCTAGAGGACCTGACTGATGGGTTGAAATGTGAACATCTTTAGAAAATACCTGCTCTGGGCAAAGACCATGGGATTTATCTTAAGGGCAAGTTGGAGGATCCTGAAAGCCCTCTGAAAGGAAGAAAGCAAATAGAACATAAACCAAACTCCAGGGAAATTCCATGTTCTGCTTTGTTTGCCTGTAATCGCCCAGCTAATTGGAATCCTTTACTAGCTGGTAAAACGGAGATGTTAATCGTCATCAAAGTTTCTAGATCCAGGCCGGGCACGGTGGCCCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATAGTGAAACCCTCTCTATATTAAAAATACAAAATTAGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCGGGAGATCGAGACCATCCTGGCTAACACTGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGACAGTGTGCACCAGGTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGCGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGTGACAGAATAAGACTCCGTCTCAAAAAAAAAAAAAAGGGCCAAACGCTGTGGCTCATGCCTGTAGCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAAGAGTTTGATACCAGCCTGGGCAACATGATGAAATTCTGTCTCTACCAAAATCAGTCAGGTGTGGTGGCAGACGCCTGTAATCCCAGCTACTCCGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCCCCATTGTACTCTAGAGCGAGACTCCATCTCTCAAAAAAAAAAAAAAAAAGTTTTCAGATCCTCAGATTCACTTGGATCTGGGTGTGGCTCACTCCAGCATTGCCTGTTGCTGTGTGTGAGAAGTGAAGGGGTGGGGAGGATAGGGTAGAACCTTGAGCAGCTCCTCCTCCTTTCCCTTAGGCAGTCATGACTTGCTCTTCTCCCTTCATTGCATTTCTAACTGTCTACTTCCTTGACGTTTTTTTGGGATTAAAGAAGCCGTATACCCGTTACCCTGGGGTGCTCACTTCCAGCAACCTAAACCACCTAGAGCACTACCAGGGCTTGAGACCTAAGGCCTTTGAATAGCAAGCAGCAACCTTGTGATTTTATGTCATGGGAGGACCTATTAGAAATAGCAAATAAGGCCAGGCATGTGGCTCATGCATGTA
|
CAAAAAATAGCTGGGCATGGTGGTGGCCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGGTTGCAGTAAGATGAGATCACGCCACTGCACTTCCAGTCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGCAAAAACAGAAAACCAGACCAGCATCTCCAGTACACCTATAGCAAAAGGGGACCTTGCCTGTTCTGGAAGTGACTCCTATCCTGCAGACAAATGGCTTCTCTGCCTCTGGGTTTAAAGAATCAAACATGGCCGGGAGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAAATACAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAGACCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGATGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCTTCGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAGAATCTTACATGAGATGAAGCAGCTAGTGCCACTCCCCATGCTCTCTTGTCCAAGAATATGGCAGAAGTGGACGTGTGTGGGATTTTTTTGTATATCCATTGACACTTTTCCCTTTAAATTATACATTTGACCAGTAGATACCTATCTTACCTTCAAGTTGAAAACATACCAGGTTACTGTTATATATTCTGAAATTTGAGGTATGAAACTGATCATAAGGTCAAGTGTGGTGCTGACTCGTGCCTATAATCCCAGCGCCTTGGAAGGCTGAGGTATGAGGATCTCTTGAGGCCAGGAGTTTAAGATCAGCCTGGGCAAGAAACATAGCGAAACCCCATCTCTACAGGAAAAAAAAAAAAAAAATTGGCTGGGTGTGGTTGTACATGCTGGTCTTCACAGCTACTCAAGAAGCTGAAATGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTATAGTGAGCCATGGTTGTACCACTGCACTGAAGACTTGGCAAAGCTGTGCAGACCCTGTCTCTAAGAGAAAAAAAGAAATAAACTGAGCATAAAATATTTTTTAGGGCCGGGTACGGTGACACACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCATGTTGCTACTCAAGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTAAGCTGAGATCGTGCCATCGCACCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAATATATATATATATATATATATATACACACACACACACGTATATATATATACACATATATATACATATATATACACATATATATATACATATATATTTTTAATTGAAGTGAAATTCACATGATATAAAATTAACCATTTAAAAATGAACAGCTCAGTGCATTTAGTACATCCACAGTGTTGTACAACTATCATGTCCATCTAGTTCCTGACCATTTTCATCACCCTGAAATGAAACCCCATCCCCTTGAGGAGTCACCTTCCAACTCCTCCTCCCACCCCCAGCAACCAATAATCTGCTTTCTTTCTCAAAGATTTGCCTATTTGCTACGTTTCACATAAATGGAACTATACAGTATGTGGCCTTGTGTGTCGGCTTCTTTTACTTAGCGTGTTTTTAAGGTTTATCAAGTTGTAGCATGCATCATGAAGAAAATAAGCATTTGTGTTGAGTACTCCTTCTCTCCCCTCCACTTTTCCCAGTGGCCATGCAGCAGCCCGCCACCACCTGGCACACAGCAGGAGTGGACGACTTCGCCAGCTTCCAGCGCAAGTGGTTTGAGGTGGCCTTTGTGGCAGAAGAGCTCGTGCACTCTGAGATTCTGCCTTTCTCCTGCCCTGGCTGCCTAGCCGGCCAGCCTCCTATGCAAGTAGGCACAGCTCCTTTAGCCGAAGTTTTGGAGGACGGAGCCAGGCGGCAGCACTTTTAGGTACATGCTCAACCCAGACAAGGTCTGAGGGTGTGCCAGTGGGTGGCTGCGGGAAAGTAGTGGCCAGCCAAGGGAACGATGCCACATGAACCAGGATTAGAGTCGCTGAGGCCGTCACACAGGCCACTGTGTCTGTCGGCACTGTTGGCTCCGTTGCTGACTTCCACTTGCCGAGTGGTTTTATGACTGTCCCAACCAACAGACGGTATTTAGCACCTCTCAAATCAGAACATAGTGCCAGACCTGTTCGGATAGGAGAGAAGAAATATGTGGCCAATTTTCCCGAGGGTTCTGTAGGATATAGGAGATGTGAGATAGTGCTCATTGCACCAGCTAGTTCCTGCCGGAGCCCCTCCCTACAACCATAGCATCCTATGATCTCAGAAGAGGAAGGAACCTAAAAGGTCATCCATTCCAGACACTCATGCAGAGCAAAAGTCTCTCTCTCTCTCTCCTCTTCCTTTCCTCCCCAAATGTGCTTACCATATTGAAGGATGTAAACTGAAACACTTCCCTCCTTTCCACCATTCCTGCAGCTCTAAGATGGGGGTAAACAGCTGCTTATTGAAAGGCAATGACCTCTGATAGGAAATGGGGAACTCTGAGCTAGAGGACCTGACTGATGGGTTGAAATGTGAACATCTTTAGAAAATACCTGCTCTGGGCAAAGACCATGGGATTTATCTTAAGGGCAAGTTGGAGGATCCTGAAAGCCCTCTGAAAGGAAGAAAGCAAATAGAACATAAACCAAACTCCAGGGAAATTCCATGTTCTGCTTTGTTTGCCTGTAATCGCCCAGCTAATTGGAATCCTTTACTAGCTGGTAAAACGGAGATGTTAATCGTCATCAAAGTTTCTAGATCCAGGCCGGGCACGGTGGCCCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATAGTGAAACCCTCTCTATATTAAAAATACAAAATTAGATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCGGGAGATCGAGACCATCCTGGCTAACACTGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGACAGTGTGCACCAGGTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGCGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGTGACAGAATAAGACTCCGTCTCAAAAAAAAAAAAAAGGGCCAAACGCTGTGGCTCATGCCTGTAGCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAAGAGTTTGATACCAGCCTGGGCAACATGATGAAATTCTGTCTCTACCAAAATCAGTCAGGTGTGGTGGCAGACGCCTGTAATCCCAGCTACTCCGGAGGCCGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCCCCATTGTACTCTAGAGCGAGACTCCATCTCTCAAAAAAAAAAAAAAAAAGTTTTCAGATCCTCAGATTCACTTGGATCTGGGTGTGGCTCACTCCAGCATTGCCTGTTGCTGTGTGTGAGAAGTGAAGGGGTGGGGAGGATAGGGTAGAACCTTGAGCAGCTCCTCCTCCTTTCCCTTAGGCAGTCATGACTTGCTCTTCTCCCTTCATTGCATTTCTAACTGTCTACTTCCTTGACGTTTTTTTGGGATTAAAGAAGCCGTATACCCGTTACCCTGGGGTGCTCACTTCCAGCAACCTAAACCACCTAGAGCACTACCAGGGCTTGAGACCTAAGGCCTTTGAATAGCAAGCAGCAACCTTGTGATTTTATGTCATGGGAGGACCTATTAGAAATAGCAAATAAGGCCAGGCATGTGGCTCATGCATGTAN
|
pathogenic
| 325,955 |
Chromosome 22, position 31893611, gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Epilepsy']
|
ATTAAAATTGCTGACGCAAGAGCTGTTTATCTTTGTCAGTGAGAAAAACCCACTCAGGGCTTCTATCTGCAGAACCCAGAACTAAACTGACCACTTCAGCTGAAGAAAACTGTTGAATTCATGGGGGTAAGGGAGAATGAGGGGTGGATTATAGTTTATAGAAACCCTAGGTCTGGGGGTACATGTTCTCAGGATCTCTTAAGACTGTGCCTCAGGGAGGCAAAAAACAAACAGAAACCCTAGGTCTGGCAGTGCCCAGCCAGGCAGAACAGAAGCCTGACCTTTTCTTTGCTTCTGAGCGTATTTTAGGGCCTTAGCCTGGTCAGGAACTTGATTGACACGTCTCTGAAACATCCTATCTTGAGTTGGTAGGATTTCTGAGCAGAAGTCCCAGATAGGATGAGTAAGCTTGGTACTCACCCAGCATCCTTGAGCAACATGTCAATGATAGGACAGGGTGTTAAGCTTCATTATAAGGTTTCATTTCTTGAGAAAAGATTGTAGAACTACTGTCTTCCTGGGTTGAAACCTGAAAAGCAAGACTTGTCACTGGTGGTCTGTGCTGTTTGCCCATTGTGTTTCTTCATAGGTCACTGAAATAAAAAGATCTGGGGTTTAGCCTGGCTGAGGTTCTGATTCCATCATCTTGGCCAAGGCATCTTCCCTCCCTGGCTGCCATTTCCTCATCTGTAAATGAAGGGGTTGGATTACTTAGGGAGAAGTAAACTATGGCTTAAGCAGCCAAATCTGGCTCACCATTTGTTCATTTATAATTGACTATTTCTTTTAGAGCAGTTTTCGGTTCATAGCAGAATCTAATAGAAAGTTCCTGTACATCTGGCCGGGCATGGTGGCTCAAGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGTGGAGCACCGGCGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGAATGAGGCAAGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCTACTGCACTCCAGCCCGGGTGACATAGTGAGACTCCATCTCTGAAAAAGAAAGAAAGAAAATTACTATGCATCCTTTGACCTCCACCCCCACAACCTGCTGCCCCCACTATCAACATCCCCAGACGGAGTAGTCCATTTTTTACAAGGTACAATCCATAAACCTACATTGACATCATTGTCACCCAGAATATCCATGGTTTACATTTTAGGGTTCACTCTTTGGTGGTGTATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTATTGCCAGACTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCGAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGACTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCTTGCGTCGGCCTCCCAAAGTGCTGGGATTACACACGTGAGCCACTGTGCCCGGCTGGTGTTGTATATTCTGTAGGTTTGGACAAATGTATAGTGACACGTATCTAACATGATATCCTACAGAATAGTTTAACCGCCCTAAAACTCAGTCTGCTTTTATAAAGTTTTATTGGAATACAGCCAGGCACCTTCATTATGTAACGTTTGTGGCTGCTTTTGCACTACAATAGCAGAGTTGAGTAGTTGCAACAGAAACCATATGTCTCACAAAATGTAAAATATTTATAATGGGGCCTTTTACAGAAAGGTTTCCAATATCTAGATGATTTCCAGGAAACTTCTGGAATCTGCAGTTTTCTTTTAGGCACTTGTATATAGTTTCATATCTGGATACTTAGTTATTTGTTCTTCTTCATCCCACTCCTTTTCTCACTCTCTTGGGGCCCCTCCTGTGTGCTGACATAGCTGCCACTGTCCCAGAGCAGAGGACTGTGACCCTGGATGTTGACGTGAACAACCGCACAGACCGGCTGGAGTGGTGCAGCTGTTATTACCATGGCAACTTTTCTCTGAATGCAGCCTTTGAGATCAAGCTGCACTGGATGGCGGTGACCGCAGCAGTACTCTTCGAGATGGTGAGAACCTTCATGCATGTTGTCAGGCCTTTGGCTCACCTCACAGTGGGCATGGAGATGCTTGATAGAGATTCATGTCACTTTAATTTTTTAGTTCAGGCTCTTATTACCATTCATCGGGACTATTGGAGTAACCTTTTTAAAAAATTTAAACATAGTAAAAATTTTAAGCAATCAAAAAAGGTAGAATCAGGGTTTCTTAGCCTTAGCAGTATTGACATCTGAGGCCAGATAATTCTCTGTGGGGGAGTCCTGCACCTTATGGGAAATTGAGCAACAACCCTAGCCTCTACCCACTAAATGCTAGTAGCACAGCCCCAGGTGTGGTAAGCAAAATGTCCCCAGATATTGTCACATGTCCCCAGGAAGGGGGAGTATTGCTCCCTCTTGAGAATCACTGGTTTAGAGTGAAAAGTAAGTCTGTTTCCCACTCTCATTCCCTGGGATCTACTTCTGCTTTGTTGAGTAAACTTCCAGAGAGATTCTAAGCATGGACAAAATCACGTTACTTTTTTTTTTTTTCAGCAGAGATGGTAGCATTGGATACATACTACTTACATTGCATTTTTTCTATCACCTATGTGTTCCATGTCAGTACAAATAAATCTGCCTTGGGATTTTTTTTATTATTATTGTTATTGGGATTTTTGTTTGTTTTTGTTTTGCCTCGTTGTTTTTAAGGGCTGGAGAGTTTTCTATTATTTGTTTAACCATAGTTAACCAGTCCCCTGTTAATAAACATCACTGCTTTGAACTCAGTGGTTCTTTACCTGGGCGGATTTTGCCACCCGGGATCATTTGGCAATATCTGAAGACAGAAAAGGGTGGCTGGGCACGGAGGTTCACGCCTTGGGAGGCCGAGGCAGGCAGATCACTCAAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAATTACCCAGGCATGGTGGTGCACGCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGGGAATCACTTGAACCTGGGAGATGGAGGTTGTAGTGAGCCAAGATCATGCTACTGCACTCCAGCCTGAGTGACAGAGTGAGACTTCATCTTAAAAAAAAAAGGAAAAAAAAAAAGAAGGCCGGGAGCAGTGGCTCACGCCTGTAATCCCGGGCCGAGGCAGGAGGATCACCTAAGGTTGGGGGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGCACTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAGAATCCGTCTCAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAGGGGTGAGGGCAGGGTGGGTGCTACTGGTGTCTAGTGGGTAGAGACCAGCAAAGCTGCTCATCATCCTATAATGCACAGGGCAGCCCCCACAACAAAGAATAACCAGCCCAAGATGTCACAAGTGCCAAGGTTGAGAAGCCCTGTTTTAACTGGTCTTCCTGCCTGTCCTTTCTCCTTCTAGTTCATCCTGGCCTGCATCTGTAATCAGGCCATTCACTGCTCCTACACTAAGAAGCCATACCTGACCATCCCCCATCGCAGTGCTCACTCCTTAGCCAAGTTGTCAGTATCTTCCAGGACAGCTCCTTAACCATCTTTATAGTGTGCCACTCCTTTTTATACACTCTCCAATATAGCCAAAAAGAATATTCTTCTGTGGCTTCTACTGAATCTCGCTTCTCTCAACACCAGCCCAGCCATCTCTTCATACAACAGAGAACAGCTGGGAAGTTCAAAAAGAGTTTACTAAAAGCTAGGAGAT
|
ATTAAAATTGCTGACGCAAGAGCTGTTTATCTTTGTCAGTGAGAAAAACCCACTCAGGGCTTCTATCTGCAGAACCCAGAACTAAACTGACCACTTCAGCTGAAGAAAACTGTTGAATTCATGGGGGTAAGGGAGAATGAGGGGTGGATTATAGTTTATAGAAACCCTAGGTCTGGGGGTACATGTTCTCAGGATCTCTTAAGACTGTGCCTCAGGGAGGCAAAAAACAAACAGAAACCCTAGGTCTGGCAGTGCCCAGCCAGGCAGAACAGAAGCCTGACCTTTTCTTTGCTTCTGAGCGTATTTTAGGGCCTTAGCCTGGTCAGGAACTTGATTGACACGTCTCTGAAACATCCTATCTTGAGTTGGTAGGATTTCTGAGCAGAAGTCCCAGATAGGATGAGTAAGCTTGGTACTCACCCAGCATCCTTGAGCAACATGTCAATGATAGGACAGGGTGTTAAGCTTCATTATAAGGTTTCATTTCTTGAGAAAAGATTGTAGAACTACTGTCTTCCTGGGTTGAAACCTGAAAAGCAAGACTTGTCACTGGTGGTCTGTGCTGTTTGCCCATTGTGTTTCTTCATAGGTCACTGAAATAAAAAGATCTGGGGTTTAGCCTGGCTGAGGTTCTGATTCCATCATCTTGGCCAAGGCATCTTCCCTCCCTGGCTGCCATTTCCTCATCTGTAAATGAAGGGGTTGGATTACTTAGGGAGAAGTAAACTATGGCTTAAGCAGCCAAATCTGGCTCACCATTTGTTCATTTATAATTGACTATTTCTTTTAGAGCAGTTTTCGGTTCATAGCAGAATCTAATAGAAAGTTCCTGTACATCTGGCCGGGCATGGTGGCTCAAGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGTGGAGCACCGGCGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGAATGAGGCAAGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCTACTGCACTCCAGCCCGGGTGACATAGTGAGACTCCATCTCTGAAAAAGAAAGAAAGAAAATTACTATGCATCCTTTGACCTCCACCCCCACAACCTGCTGCCCCCACTATCAACATCCCCAGACGGAGTAGTCCATTTTTTACAAGGTACAATCCATAAACCTACATTGACATCATTGTCACCCAGAATATCCATGGTTTACATTTTAGGGTTCACTCTTTGGTGGTGTATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTATTGCCAGACTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCGAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGACTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCTTGCGTCGGCCTCCCAAAGTGCTGGGATTACACACGTGAGCCACTGTGCCCGGCTGGTGTTGTATATTCTGTAGGTTTGGACAAATGTATAGTGACACGTATCTAACATGATATCCTACAGAATAGTTTAACCGCCCTAAAACTCAGTCTGCTTTTATAAAGTTTTATTGGAATACAGCCAGGCACCTTCATTATGTAACGTTTGTGGCTGCTTTTGCACTACAATAGCAGAGTTGAGTAGTTGCAACAGAAACCATATGTCTCACAAAATGTAAAATATTTATAATGGGGCCTTTTACAGAAAGGTTTCCAATATCTAGATGATTTCCAGGAAACTTCTGGAATCTGCAGTTTTCTTTTAGGCACTTGTATATAGTTTCATATCTGGATACTTAGTTATTTGTTCTTCTTCATCCCACTCCTTTTCTCACTCTCTTGGGGCCCCTCCTGTGTGCTGACATAGCTGCCACTGTCCCAGAGCAGAGGACTGTGACCTGGATGTTGACGTGAACAACCGCACAGACCGGCTGGAGTGGTGCAGCTGTTATTACCATGGCAACTTTTCTCTGAATGCAGCCTTTGAGATCAAGCTGCACTGGATGGCGGTGACCGCAGCAGTACTCTTCGAGATGGTGAGAACCTTCATGCATGTTGTCAGGCCTTTGGCTCACCTCACAGTGGGCATGGAGATGCTTGATAGAGATTCATGTCACTTTAATTTTTTAGTTCAGGCTCTTATTACCATTCATCGGGACTATTGGAGTAACCTTTTTAAAAAATTTAAACATAGTAAAAATTTTAAGCAATCAAAAAAGGTAGAATCAGGGTTTCTTAGCCTTAGCAGTATTGACATCTGAGGCCAGATAATTCTCTGTGGGGGAGTCCTGCACCTTATGGGAAATTGAGCAACAACCCTAGCCTCTACCCACTAAATGCTAGTAGCACAGCCCCAGGTGTGGTAAGCAAAATGTCCCCAGATATTGTCACATGTCCCCAGGAAGGGGGAGTATTGCTCCCTCTTGAGAATCACTGGTTTAGAGTGAAAAGTAAGTCTGTTTCCCACTCTCATTCCCTGGGATCTACTTCTGCTTTGTTGAGTAAACTTCCAGAGAGATTCTAAGCATGGACAAAATCACGTTACTTTTTTTTTTTTTCAGCAGAGATGGTAGCATTGGATACATACTACTTACATTGCATTTTTTCTATCACCTATGTGTTCCATGTCAGTACAAATAAATCTGCCTTGGGATTTTTTTTATTATTATTGTTATTGGGATTTTTGTTTGTTTTTGTTTTGCCTCGTTGTTTTTAAGGGCTGGAGAGTTTTCTATTATTTGTTTAACCATAGTTAACCAGTCCCCTGTTAATAAACATCACTGCTTTGAACTCAGTGGTTCTTTACCTGGGCGGATTTTGCCACCCGGGATCATTTGGCAATATCTGAAGACAGAAAAGGGTGGCTGGGCACGGAGGTTCACGCCTTGGGAGGCCGAGGCAGGCAGATCACTCAAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAATTACCCAGGCATGGTGGTGCACGCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGGGAATCACTTGAACCTGGGAGATGGAGGTTGTAGTGAGCCAAGATCATGCTACTGCACTCCAGCCTGAGTGACAGAGTGAGACTTCATCTTAAAAAAAAAAGGAAAAAAAAAAAGAAGGCCGGGAGCAGTGGCTCACGCCTGTAATCCCGGGCCGAGGCAGGAGGATCACCTAAGGTTGGGGGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGCACTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAGAATCCGTCTCAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAGGGGTGAGGGCAGGGTGGGTGCTACTGGTGTCTAGTGGGTAGAGACCAGCAAAGCTGCTCATCATCCTATAATGCACAGGGCAGCCCCCACAACAAAGAATAACCAGCCCAAGATGTCACAAGTGCCAAGGTTGAGAAGCCCTGTTTTAACTGGTCTTCCTGCCTGTCCTTTCTCCTTCTAGTTCATCCTGGCCTGCATCTGTAATCAGGCCATTCACTGCTCCTACACTAAGAAGCCATACCTGACCATCCCCCATCGCAGTGCTCACTCCTTAGCCAAGTTGTCAGTATCTTCCAGGACAGCTCCTTAACCATCTTTATAGTGTGCCACTCCTTTTTATACACTCTCCAATATAGCCAAAAAGAATATTCTTCTGTGGCTTCTACTGAATCTCGCTTCTCTCAACACCAGCCCAGCCATCTCTTCATACAACAGAGAACAGCTGGGAAGTTCAAAAAGAGTTTACTAAAAGCTAGGAGATN
|
pathogenic
| 325,961 |
Is the variant located on chromosome 22 at position 31893697, gene DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Epilepsy,_familial_focal,_with_variable_foci_1']
|
CTGACCACTTCAGCTGAAGAAAACTGTTGAATTCATGGGGGTAAGGGAGAATGAGGGGTGGATTATAGTTTATAGAAACCCTAGGTCTGGGGGTACATGTTCTCAGGATCTCTTAAGACTGTGCCTCAGGGAGGCAAAAAACAAACAGAAACCCTAGGTCTGGCAGTGCCCAGCCAGGCAGAACAGAAGCCTGACCTTTTCTTTGCTTCTGAGCGTATTTTAGGGCCTTAGCCTGGTCAGGAACTTGATTGACACGTCTCTGAAACATCCTATCTTGAGTTGGTAGGATTTCTGAGCAGAAGTCCCAGATAGGATGAGTAAGCTTGGTACTCACCCAGCATCCTTGAGCAACATGTCAATGATAGGACAGGGTGTTAAGCTTCATTATAAGGTTTCATTTCTTGAGAAAAGATTGTAGAACTACTGTCTTCCTGGGTTGAAACCTGAAAAGCAAGACTTGTCACTGGTGGTCTGTGCTGTTTGCCCATTGTGTTTCTTCATAGGTCACTGAAATAAAAAGATCTGGGGTTTAGCCTGGCTGAGGTTCTGATTCCATCATCTTGGCCAAGGCATCTTCCCTCCCTGGCTGCCATTTCCTCATCTGTAAATGAAGGGGTTGGATTACTTAGGGAGAAGTAAACTATGGCTTAAGCAGCCAAATCTGGCTCACCATTTGTTCATTTATAATTGACTATTTCTTTTAGAGCAGTTTTCGGTTCATAGCAGAATCTAATAGAAAGTTCCTGTACATCTGGCCGGGCATGGTGGCTCAAGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGTGGAGCACCGGCGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGAATGAGGCAAGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCTACTGCACTCCAGCCCGGGTGACATAGTGAGACTCCATCTCTGAAAAAGAAAGAAAGAAAATTACTATGCATCCTTTGACCTCCACCCCCACAACCTGCTGCCCCCACTATCAACATCCCCAGACGGAGTAGTCCATTTTTTACAAGGTACAATCCATAAACCTACATTGACATCATTGTCACCCAGAATATCCATGGTTTACATTTTAGGGTTCACTCTTTGGTGGTGTATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTATTGCCAGACTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCGAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGACTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCTTGCGTCGGCCTCCCAAAGTGCTGGGATTACACACGTGAGCCACTGTGCCCGGCTGGTGTTGTATATTCTGTAGGTTTGGACAAATGTATAGTGACACGTATCTAACATGATATCCTACAGAATAGTTTAACCGCCCTAAAACTCAGTCTGCTTTTATAAAGTTTTATTGGAATACAGCCAGGCACCTTCATTATGTAACGTTTGTGGCTGCTTTTGCACTACAATAGCAGAGTTGAGTAGTTGCAACAGAAACCATATGTCTCACAAAATGTAAAATATTTATAATGGGGCCTTTTACAGAAAGGTTTCCAATATCTAGATGATTTCCAGGAAACTTCTGGAATCTGCAGTTTTCTTTTAGGCACTTGTATATAGTTTCATATCTGGATACTTAGTTATTTGTTCTTCTTCATCCCACTCCTTTTCTCACTCTCTTGGGGCCCCTCCTGTGTGCTGACATAGCTGCCACTGTCCCAGAGCAGAGGACTGTGACCCTGGATGTTGACGTGAACAACCGCACAGACCGGCTGGAGTGGTGCAGCTGTTATTACCATGGCAACTTTTCTCTGAATGCAGCCTTTGAGATCAAGCTGCACTGGATGGCGGTGACCGCAGCAGTACTCTTCGAGATGGTGAGAACCTTCATGCATGTTGTCAGGCCTTTGGCTCACCTCACAGTGGGCATGGAGATGCTTGATAGAGATTCATGTCACTTTAATTTTTTAGTTCAGGCTCTTATTACCATTCATCGGGACTATTGGAGTAACCTTTTTAAAAAATTTAAACATAGTAAAAATTTTAAGCAATCAAAAAAGGTAGAATCAGGGTTTCTTAGCCTTAGCAGTATTGACATCTGAGGCCAGATAATTCTCTGTGGGGGAGTCCTGCACCTTATGGGAAATTGAGCAACAACCCTAGCCTCTACCCACTAAATGCTAGTAGCACAGCCCCAGGTGTGGTAAGCAAAATGTCCCCAGATATTGTCACATGTCCCCAGGAAGGGGGAGTATTGCTCCCTCTTGAGAATCACTGGTTTAGAGTGAAAAGTAAGTCTGTTTCCCACTCTCATTCCCTGGGATCTACTTCTGCTTTGTTGAGTAAACTTCCAGAGAGATTCTAAGCATGGACAAAATCACGTTACTTTTTTTTTTTTTCAGCAGAGATGGTAGCATTGGATACATACTACTTACATTGCATTTTTTCTATCACCTATGTGTTCCATGTCAGTACAAATAAATCTGCCTTGGGATTTTTTTTATTATTATTGTTATTGGGATTTTTGTTTGTTTTTGTTTTGCCTCGTTGTTTTTAAGGGCTGGAGAGTTTTCTATTATTTGTTTAACCATAGTTAACCAGTCCCCTGTTAATAAACATCACTGCTTTGAACTCAGTGGTTCTTTACCTGGGCGGATTTTGCCACCCGGGATCATTTGGCAATATCTGAAGACAGAAAAGGGTGGCTGGGCACGGAGGTTCACGCCTTGGGAGGCCGAGGCAGGCAGATCACTCAAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAATTACCCAGGCATGGTGGTGCACGCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGGGAATCACTTGAACCTGGGAGATGGAGGTTGTAGTGAGCCAAGATCATGCTACTGCACTCCAGCCTGAGTGACAGAGTGAGACTTCATCTTAAAAAAAAAAGGAAAAAAAAAAAGAAGGCCGGGAGCAGTGGCTCACGCCTGTAATCCCGGGCCGAGGCAGGAGGATCACCTAAGGTTGGGGGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGCACTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAGAATCCGTCTCAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAGGGGTGAGGGCAGGGTGGGTGCTACTGGTGTCTAGTGGGTAGAGACCAGCAAAGCTGCTCATCATCCTATAATGCACAGGGCAGCCCCCACAACAAAGAATAACCAGCCCAAGATGTCACAAGTGCCAAGGTTGAGAAGCCCTGTTTTAACTGGTCTTCCTGCCTGTCCTTTCTCCTTCTAGTTCATCCTGGCCTGCATCTGTAATCAGGCCATTCACTGCTCCTACACTAAGAAGCCATACCTGACCATCCCCCATCGCAGTGCTCACTCCTTAGCCAAGTTGTCAGTATCTTCCAGGACAGCTCCTTAACCATCTTTATAGTGTGCCACTCCTTTTTATACACTCTCCAATATAGCCAAAAAGAATATTCTTCTGTGGCTTCTACTGAATCTCGCTTCTCTCAACACCAGCCCAGCCATCTCTTCATACAACAGAGAACAGCTGGGAAGTTCAAAAAGAGTTTACTAAAAGCTAGGAGATAAGCAAAGAGAAATGAGTACAGCATGAGCCAGCAGGTTTTTTTTTTTGTCCAGAGCTCATAGGCTAAGTTTTGTCCCACAAAACAT
|
CTGACCACTTCAGCTGAAGAAAACTGTTGAATTCATGGGGGTAAGGGAGAATGAGGGGTGGATTATAGTTTATAGAAACCCTAGGTCTGGGGGTACATGTTCTCAGGATCTCTTAAGACTGTGCCTCAGGGAGGCAAAAAACAAACAGAAACCCTAGGTCTGGCAGTGCCCAGCCAGGCAGAACAGAAGCCTGACCTTTTCTTTGCTTCTGAGCGTATTTTAGGGCCTTAGCCTGGTCAGGAACTTGATTGACACGTCTCTGAAACATCCTATCTTGAGTTGGTAGGATTTCTGAGCAGAAGTCCCAGATAGGATGAGTAAGCTTGGTACTCACCCAGCATCCTTGAGCAACATGTCAATGATAGGACAGGGTGTTAAGCTTCATTATAAGGTTTCATTTCTTGAGAAAAGATTGTAGAACTACTGTCTTCCTGGGTTGAAACCTGAAAAGCAAGACTTGTCACTGGTGGTCTGTGCTGTTTGCCCATTGTGTTTCTTCATAGGTCACTGAAATAAAAAGATCTGGGGTTTAGCCTGGCTGAGGTTCTGATTCCATCATCTTGGCCAAGGCATCTTCCCTCCCTGGCTGCCATTTCCTCATCTGTAAATGAAGGGGTTGGATTACTTAGGGAGAAGTAAACTATGGCTTAAGCAGCCAAATCTGGCTCACCATTTGTTCATTTATAATTGACTATTTCTTTTAGAGCAGTTTTCGGTTCATAGCAGAATCTAATAGAAAGTTCCTGTACATCTGGCCGGGCATGGTGGCTCAAGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCGGGTGGAGCACCGGCGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGAATGAGGCAAGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCTACTGCACTCCAGCCCGGGTGACATAGTGAGACTCCATCTCTGAAAAAGAAAGAAAGAAAATTACTATGCATCCTTTGACCTCCACCCCCACAACCTGCTGCCCCCACTATCAACATCCCCAGACGGAGTAGTCCATTTTTTACAAGGTACAATCCATAAACCTACATTGACATCATTGTCACCCAGAATATCCATGGTTTACATTTTAGGGTTCACTCTTTGGTGGTGTATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTATTGCCAGACTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCGAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGAGACTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCTTGCGTCGGCCTCCCAAAGTGCTGGGATTACACACGTGAGCCACTGTGCCCGGCTGGTGTTGTATATTCTGTAGGTTTGGACAAATGTATAGTGACACGTATCTAACATGATATCCTACAGAATAGTTTAACCGCCCTAAAACTCAGTCTGCTTTTATAAAGTTTTATTGGAATACAGCCAGGCACCTTCATTATGTAACGTTTGTGGCTGCTTTTGCACTACAATAGCAGAGTTGAGTAGTTGCAACAGAAACCATATGTCTCACAAAATGTAAAATATTTATAATGGGGCCTTTTACAGAAAGGTTTCCAATATCTAGATGATTTCCAGGAAACTTCTGGAATCTGCAGTTTTCTTTTAGGCACTTGTATATAGTTTCATATCTGGATACTTAGTTATTTGTTCTTCTTCATCCCACTCCTTTTCTCACTCTCTTGGGGCCCCTCCTGTGTGCTGACATAGCTGCCACTGTCCCAGAGCAGAGGACTGTGACCCTGGATGTTGACGTGAACAACCGCACAGACCGGCTGGAGTGGTGCAGCTGTTATTACCATGGCAACTTTTCTCTGAATGCAGCCTTGAGATCAAGCTGCACTGGATGGCGGTGACCGCAGCAGTACTCTTCGAGATGGTGAGAACCTTCATGCATGTTGTCAGGCCTTTGGCTCACCTCACAGTGGGCATGGAGATGCTTGATAGAGATTCATGTCACTTTAATTTTTTAGTTCAGGCTCTTATTACCATTCATCGGGACTATTGGAGTAACCTTTTTAAAAAATTTAAACATAGTAAAAATTTTAAGCAATCAAAAAAGGTAGAATCAGGGTTTCTTAGCCTTAGCAGTATTGACATCTGAGGCCAGATAATTCTCTGTGGGGGAGTCCTGCACCTTATGGGAAATTGAGCAACAACCCTAGCCTCTACCCACTAAATGCTAGTAGCACAGCCCCAGGTGTGGTAAGCAAAATGTCCCCAGATATTGTCACATGTCCCCAGGAAGGGGGAGTATTGCTCCCTCTTGAGAATCACTGGTTTAGAGTGAAAAGTAAGTCTGTTTCCCACTCTCATTCCCTGGGATCTACTTCTGCTTTGTTGAGTAAACTTCCAGAGAGATTCTAAGCATGGACAAAATCACGTTACTTTTTTTTTTTTTCAGCAGAGATGGTAGCATTGGATACATACTACTTACATTGCATTTTTTCTATCACCTATGTGTTCCATGTCAGTACAAATAAATCTGCCTTGGGATTTTTTTTATTATTATTGTTATTGGGATTTTTGTTTGTTTTTGTTTTGCCTCGTTGTTTTTAAGGGCTGGAGAGTTTTCTATTATTTGTTTAACCATAGTTAACCAGTCCCCTGTTAATAAACATCACTGCTTTGAACTCAGTGGTTCTTTACCTGGGCGGATTTTGCCACCCGGGATCATTTGGCAATATCTGAAGACAGAAAAGGGTGGCTGGGCACGGAGGTTCACGCCTTGGGAGGCCGAGGCAGGCAGATCACTCAAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTGAAAATACAAAAATTACCCAGGCATGGTGGTGCACGCCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGGGAATCACTTGAACCTGGGAGATGGAGGTTGTAGTGAGCCAAGATCATGCTACTGCACTCCAGCCTGAGTGACAGAGTGAGACTTCATCTTAAAAAAAAAAGGAAAAAAAAAAAGAAGGCCGGGAGCAGTGGCTCACGCCTGTAATCCCGGGCCGAGGCAGGAGGATCACCTAAGGTTGGGGGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGCACTGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAGAATCCGTCTCAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGAAAGGGGTGAGGGCAGGGTGGGTGCTACTGGTGTCTAGTGGGTAGAGACCAGCAAAGCTGCTCATCATCCTATAATGCACAGGGCAGCCCCCACAACAAAGAATAACCAGCCCAAGATGTCACAAGTGCCAAGGTTGAGAAGCCCTGTTTTAACTGGTCTTCCTGCCTGTCCTTTCTCCTTCTAGTTCATCCTGGCCTGCATCTGTAATCAGGCCATTCACTGCTCCTACACTAAGAAGCCATACCTGACCATCCCCCATCGCAGTGCTCACTCCTTAGCCAAGTTGTCAGTATCTTCCAGGACAGCTCCTTAACCATCTTTATAGTGTGCCACTCCTTTTTATACACTCTCCAATATAGCCAAAAAGAATATTCTTCTGTGGCTTCTACTGAATCTCGCTTCTCTCAACACCAGCCCAGCCATCTCTTCATACAACAGAGAACAGCTGGGAAGTTCAAAAAGAGTTTACTAAAAGCTAGGAGATAAGCAAAGAGAAATGAGTACAGCATGAGCCAGCAGGTTTTTTTTTTTGTCCAGAGCTCATAGGCTAAGTTTTGTCCCACAAAACATN
|
pathogenic
| 325,962 |
Variant in DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit), chromosome 22, position 31906501—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
benign
|
AGAAAGCAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCGAAGCAGGCGGATCACCTGAGGTCAGCAGTTCAAGACCAGCCTGGCCAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAACTGGTCATGGTGGCGCGTGCCTGTAATCCTAGCTACTTGGGAGGCTGGAAGCACAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCGGTGAGCCAAGATTGTACCACTGCAGTCCAGCCTGGATGACAGAGCAAGAGTAGAGAGGATTTTGCAAAGGCAAAATCCAGAGCCAATCCTCATCATATAATCAGCCTGTAGACAGGGAGCTTACAGTGCATAGTAGCCTACCCATTTAGTTTGCATATTTGACTTCATGTATTCTTTGGTAAAAAATTATGGAATGCAGATTATGTAGAGGATACAACACAGCACCTCCCCAAGGAACTCAGTCCAGGAAAGAAGACAGGCATTTTCCCTTCTTTAGTTCTGCCTACATCACTGTCTCCATTATATAAACCCCTCAGACTTAGAGGGCAGGAGCCACATCTGTTACCACGTCCTTTACAGCTCTTAGCAGGTAGAACTGTAATAAATGTGCCTTATGGAAATAGAAAAACCAGGAATAGAACAAGCCATAGATGAAAAATGGCTCCTCCTGCCCATTTCCAGAGCACAGGGAAGCAGAGAGCCCCAGCTTGGCGTTCCTCTTTTTTTTTCTTTTTGAGATGGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTAGCTCACTGCAGCCTCCGCCTCCCGGATTCAAGTGATTCTCCTGGCTAATTCCAGAACAATCCTGGCTAATACAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGACTGAGGCGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGTCTGGGCAACAGTGCGAGATTCCCTCTCACCAAAAAAAAAGATAAGGACCTTCCCTGGAGGAATGGATAGCCTCGAGTATGCGGGTGGGTATGTGTGGCCTGTCAAGACATGAGGTAGATTCCAGTGAGAGGCCCAGGATGGGATGGGGGAGAACGCTCAGTGGGAAGGTCTGCTGGGATGGGTAGGGAACATGGTAGGAGGGACGGGCTGTCTGAGCAGAGATGAAGGCTGGATGAAGAGTGCAGCCGGTGGGAAGGCTTTCTTTCACTATGGTGGTAGTGACATGGTGGACCACGGAGATGACGGGCTGCTGGGTGTGAGGAGGTCTGGTAAGCCATGGTGTTGGAAGAGGTAGAGGTCAGAAAGTGGTGAGGGTGAGGACAAAAATAAGCAGCCTGCATGTGCAATCTGGAAAGAGATCTTTCCAGATCTCTGTGTCTCAGGCTGTCCGAGAGTCCTATCAGCTACATTCTCTTCCCTTGCCCCTTTAACTAAGGAGGCGCTGATTAGCATGTCTTCCTGTCCTTCCCTAGGTTTGGGTTTGTACAAGATAAATATTCTGCCTCTGCTTTTAACTTCCCTGCTGAGAACAAGCCTCAGTATATCCACGTTACAGGTGAGGAGCTACGGGCAGAGTTGGGCAGGTGGGTCCACATCCCTTTCCTTGCACCAAGCCTATGGCTGCAGAACCACCTCAGCAGGCTCCAGGAGCCCTCCTGGTGGCTGCCACACAGGCGCTCCCCTTTCTCTTCAGGAACAGTGTTTCTGCAGCTGCCCTACTCCAAGCGCAAGTTCTCAGGGCAGCAGCGGCGGCGGCGGAACTCCACCAGCTCCACCAACCAGAACATGTTCTGCGAGGAGCGGGTCGGCTACAACTGGGCCTACAACACCATGCTCACCAAAACATGGCGCTCCAGCGCCACAGGGGATGAAAAGTTTGCTGATCGGCTGCTGAAGGACTTCACGGACTTCTGCATCAACCGTGACAACCGGCTGGTCACGTTCTGGACAAGTTGCCTGGAGAAGATGCATGCCAGTGCCCCGTGAGGCCAGGCTGCACCTGTGCTGGGGGAAGGTGGGTGAGCCACTGCCCTCAAACCCGGGGCGGAGGATTCCAGGCAGGCTCTAGGAGTCAGGTGTCCGTTTGCTGCTATCAGTGAGTGGGGGCCATTGTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTGGCCCCCACGACAAGTCTTCTACTCTAGAAGAAAGACTTTGGAAGCAGCTGCTGCTGCTGCCACCACTCCTGTCAGCAAGTGCTCAGAGCAGGTGGGAGGCACAGATTGTCCGTGGGAGGGCTCCAGTGTCTGGGAAGAGGGCAGGCGGCCCCCATGAATGTCCTCGGAAGGGGGTGGCTCCTGGTAGCATCCTTTTCCTTCACCATCTATGGGATATTAGGGGCAGAATCTGCCACTTCTTGCCCAGGAGTGTGCACAGATGTAAGATAATTTTGTGAAATAATGTACCATAGACTCTCACCAACTGTATATACCTGTACATATCAGAAGCAAATAAAGAGCTCCACGTGCATCATTTCTTTCCCCACCCAGTTCCCCACAGAAGCAGTCCCATCCTGGGCTGGGCAGTTGTGCCAGGTGGCCGGGGTCATGGCAGTCAATGAAGTGGTCACAGATGGTGAGAGGGCTTCAGAATTCACTGGCTTAGAGTCTGGCTGGGAGTTTATTGAGAGATTTCTTTCATAGGCCACTGGGCAGGAGCAAGGATGGTTCCAGTGAGGACAGTGAGCAGGCAGTATAACTTACAAGGTAACTGCAGGCTCATGCTGTCAGAATGAATCTTGCTAAATGGGTGAGCTCAGCTCTGGGACGCAGATATGATGGCATTCTGAAAAAAATCAAAGGAAACATTTTGTAGACTCTAACTTAGGTTTTTTTTGTTGTTGTTTTTTTTGTTGTTTTTTTTGACACAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCGGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCATACCAGGCTAATTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAGGCGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTAACTTAGATTTGCTGAGATAAGACTCAGCTTGGTGCTTCACCTCAGCACCCTGCCTTAAGCTACTCAGGGCAGTTCAGGAGCTGTGGGTCAGAGGGGAGAATCCGACAGTGACTGCCACTTCTTGCTGTGCCATCTCACCACGTGGAGTTCATCACAAGCTCTGTTGATTTGCCTCCTCAATGGCTTTGCATCCATTCTCTTCTTCCCAGGCCCTGAGCTGCCACTCAGTCCAGCCTTCCTTTGTCTTTCTCTTAGATCCCCAGGAAAACCTTCTAATTTGTCTCTGCTTTCACTCCACTTGTCAGTCAGTCTTTTTATAAAACCACTGTGATTTTGCCCACCACTTAACTAGAACTTTTTGGTGACTTGAACTTCAAAAATCTTAGATGCAGCCCACATGGTCCTGCACAGTCTGGTCTGGTGGGCTGTTTGTACAGCCACCCTGGCCATCACACAGTCCCTGGAACATCACAAACTCTGCACCAGCTCAGACGCTTTGCACTTGCTGTTCCCTCTGTTCCATCTGCCTGGAACATGCCTCCCTCCATGCCCGCTCTGTCTCACTAACTCCTGGTGGTCAGCCATCAGCTCTTAGCTCAACTGTCACTTCTCCAGAGAAGCAGAGTTGGCCCTGTTACATCCTCCCACAGCACTTTGTACTTCTCCAGCATGGTACTCAACATGTTTACACTCTACCATGGCAGAAGCTTCTTTTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACATAGTCCGGCTCTGTCACCCAGGCTGGAATACAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCG
|
AGAAAGCAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCGAAGCAGGCGGATCACCTGAGGTCAGCAGTTCAAGACCAGCCTGGCCAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAACTGGTCATGGTGGCGCGTGCCTGTAATCCTAGCTACTTGGGAGGCTGGAAGCACAAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCGGTGAGCCAAGATTGTACCACTGCAGTCCAGCCTGGATGACAGAGCAAGAGTAGAGAGGATTTTGCAAAGGCAAAATCCAGAGCCAATCCTCATCATATAATCAGCCTGTAGACAGGGAGCTTACAGTGCATAGTAGCCTACCCATTTAGTTTGCATATTTGACTTCATGTATTCTTTGGTAAAAAATTATGGAATGCAGATTATGTAGAGGATACAACACAGCACCTCCCCAAGGAACTCAGTCCAGGAAAGAAGACAGGCATTTTCCCTTCTTTAGTTCTGCCTACATCACTGTCTCCATTATATAAACCCCTCAGACTTAGAGGGCAGGAGCCACATCTGTTACCACGTCCTTTACAGCTCTTAGCAGGTAGAACTGTAATAAATGTGCCTTATGGAAATAGAAAAACCAGGAATAGAACAAGCCATAGATGAAAAATGGCTCCTCCTGCCCATTTCCAGAGCACAGGGAAGCAGAGAGCCCCAGCTTGGCGTTCCTCTTTTTTTTTCTTTTTGAGATGGAGTCTCGCCCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTTAGCTCACTGCAGCCTCCGCCTCCCGGATTCAAGTGATTCTCCTGGCTAATTCCAGAACAATCCTGGCTAATACAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGACTGAGGCGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGTCTGGGCAACAGTGCGAGATTCCCTCTCACCAAAAAAAAAGATAAGGACCTTCCCTGGAGGAATGGATAGCCTCGAGTATGCGGGTGGGTATGTGTGGCCTGTCAAGACATGAGGTAGATTCCAGTGAGAGGCCCAGGATGGGATGGGGGAGAACGCTCAGTGGGAAGGTCTGCTGGGATGGGTAGGGAACATGGTAGGAGGGACGGGCTGTCTGAGCAGAGATGAAGGCTGGATGAAGAGTGCAGCCGGTGGGAAGGCTTTCTTTCACTATGGTGGTAGTGACATGGTGGACCACGGAGATGACGGGCTGCTGGGTGTGAGGAGGTCTGGTAAGCCATGGTGTTGGAAGAGGTAGAGGTCAGAAAGTGGTGAGGGTGAGGACAAAAATAAGCAGCCTGCATGTGCAATCTGGAAAGAGATCTTTCCAGATCTCTGTGTCTCAGGCTGTCCGAGAGTCCTATCAGCTACATTCTCTTCCCTTGCCCCTTTAACTAAGGAGGCGCTGATTAGCATGTCTTCCTGTCCTTCCCTAGGTTTGGGTTTGTACAAGATAAATATTCTGCCTCTGCTTTTAACTTCCCTGCTGAGAACAAGCCTCAGTATATCCACGTTACAGGTGAGGAGCTACGGGCAGAGTTGGGCAGGTGGGTCCACATCCCTTTCCTTGCACCAAGCCTATGGCTGCAGAACCACCTCAGCAGGCTCCAGGAGCCCTCCTGGTGGCTGCCACACAGGCGCTCCCCTTTCTCTTCAGGAACAGTGTTTCTGCAGCTGCCCTACTCCAAGCGCAAGTTCTCAGGGCAGCAGCGGCGGCGGCGGAACTCCACCAGCTCCACCAACCAGAACATGTTCTGCGAGGAGCGGGTCGGCTACAACTGGGCCTACAACACCATGCTCACCAAAACATGGCGCTCCAGCGCCACAGGGGATGAAAAGTTTGCTGATCGGCTGCTGAAGGACTTCACGGACTTCTGCATCAACCGTGACAACCGGCTGGTCACGTTCTGGACAAGTTGCCTGGAGAAGATGCATGCCAGTGCCCCGTGAGGCCAGGCTGCACCAGGGTTAGAAGGCTGCACCTGTGCTGGGGGAAGGTGGGTGAGCCACTGCCCTCAAACCCGGGGCGGAGGATTCCAGGCAGGCTCTAGGAGTCAGGTGTCCGTTTGCTGCTATCAGTGAGTGGGGGCCATTGTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTGGCCCCCACGACAAGTCTTCTACTCTAGAAGAAAGACTTTGGAAGCAGCTGCTGCTGCTGCCACCACTCCTGTCAGCAAGTGCTCAGAGCAGGTGGGAGGCACAGATTGTCCGTGGGAGGGCTCCAGTGTCTGGGAAGAGGGCAGGCGGCCCCCATGAATGTCCTCGGAAGGGGGTGGCTCCTGGTAGCATCCTTTTCCTTCACCATCTATGGGATATTAGGGGCAGAATCTGCCACTTCTTGCCCAGGAGTGTGCACAGATGTAAGATAATTTTGTGAAATAATGTACCATAGACTCTCACCAACTGTATATACCTGTACATATCAGAAGCAAATAAAGAGCTCCACGTGCATCATTTCTTTCCCCACCCAGTTCCCCACAGAAGCAGTCCCATCCTGGGCTGGGCAGTTGTGCCAGGTGGCCGGGGTCATGGCAGTCAATGAAGTGGTCACAGATGGTGAGAGGGCTTCAGAATTCACTGGCTTAGAGTCTGGCTGGGAGTTTATTGAGAGATTTCTTTCATAGGCCACTGGGCAGGAGCAAGGATGGTTCCAGTGAGGACAGTGAGCAGGCAGTATAACTTACAAGGTAACTGCAGGCTCATGCTGTCAGAATGAATCTTGCTAAATGGGTGAGCTCAGCTCTGGGACGCAGATATGATGGCATTCTGAAAAAAATCAAAGGAAACATTTTGTAGACTCTAACTTAGGTTTTTTTTGTTGTTGTTTTTTTTGTTGTTTTTTTTGACACAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCGGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCATACCAGGCTAATTTTTTGTATTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAGGCGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCTAACTTAGATTTGCTGAGATAAGACTCAGCTTGGTGCTTCACCTCAGCACCCTGCCTTAAGCTACTCAGGGCAGTTCAGGAGCTGTGGGTCAGAGGGGAGAATCCGACAGTGACTGCCACTTCTTGCTGTGCCATCTCACCACGTGGAGTTCATCACAAGCTCTGTTGATTTGCCTCCTCAATGGCTTTGCATCCATTCTCTTCTTCCCAGGCCCTGAGCTGCCACTCAGTCCAGCCTTCCTTTGTCTTTCTCTTAGATCCCCAGGAAAACCTTCTAATTTGTCTCTGCTTTCACTCCACTTGTCAGTCAGTCTTTTTATAAAACCACTGTGATTTTGCCCACCACTTAACTAGAACTTTTTGGTGACTTGAACTTCAAAAATCTTAGATGCAGCCCACATGGTCCTGCACAGTCTGGTCTGGTGGGCTGTTTGTACAGCCACCCTGGCCATCACACAGTCCCTGGAACATCACAAACTCTGCACCAGCTCAGACGCTTTGCACTTGCTGTTCCCTCTGTTCCATCTGCCTGGAACATGCCTCCCTCCATGCCCGCTCTGTCTCACTAACTCCTGGTGGTCAGCCATCAGCTCTTAGCTCAACTGTCACTTCTCCAGAGAAGCAGAGTTGGCCCTGTTACATCCTCCCACAGCACTTTGTACTTCTCCAGCATGGTACTCAACATGTTTACACTCTACCATGGCAGAAGCTTCTTTTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACATAGTCCGGCTCTGTCACCCAGGCTGGAATACAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCAGGTTCATGCCATT
|
benign
| 325,984 |
Gene HMOX1 (heme oxygenase 1) variant at chromosome position 35386802 on chromosome 22: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Heme_oxygenase_1_deficiency']
|
ACCAGCCCCATCTAGTATGTGGCAGGTGAGGGAACTGACTAGCACAGTTGGCTAGCACAGTCACACGGACCTCAGATCATCTGCTCTAGGATAGGATAGGAAGCTGGGACCAGAGAAAGCAAGTGGCTCACCCATGGTCACACAGTTAAGGACTGGCAGAGTTGGGTAAGAACCAGGTCCGTCACACTCAAAAACCCAGGCTCTTTTGTACCAGACTGCCTGGCTTTCTGTCCCCTCAAGGAATAGAGCTGCTTTGAATGTTTGTGGCTCAGAAATAACTCAGAAACTCCAACCTAAATGTCTTAACTTTGTTCTCCTTCAAATTTAAACGGGCGTATTAATGTGTAACGGGAGTTAGTGCCCCAAGCCAAGGTACACTCAAGACCTGTTGCCTCAGCCCAGCATGCAGAGGTGGTGGGGTTCAGAATAGGCCTCCAGGAAGGAGAATTGTGCCCTGTAGTTGGTTACGCAGAGGTCAAAAGCCAGAAGCACATGGCCAATCTCCTTTAAGCACTTTCATTTCAGCTGTTCCCCTCTCCTGAGCCATGGTGGGTCCCTGGCAATGCCCGGTCTTCAATCTAGTTTCATTTCTTACTAGCTGTGCAACCTCCATGTCTCATACCCTCTCTGAGCCTTAGTTTCCTTTTCTGTAAAATGGGAATAGCAATTCCTTTGTTGGATTTTTTTTTTTTTTTTTTCTGAGACAGGGTCTTGCTCACTCTGTTCCCCAAGCTGGAGTACAGTGATATGATCACAGCTCACTGCAACCTTGAAATCCTGGGCTCAAGTGATACCCCTGCCTCCGCCTCTGGAGTAGCTGGGACTATAGGCATGCACCCCCACAGCCATACCTGGCTTTTTTTTTTTTTTTTTTTTTTCTGAGTCAAAGTCTTGCTCTGTCGCCCAGGCTGGAGCGCAATGGCGTGATCTCGGCTCACTGCAACCACTGCCTCCTGGGTTCAAGCAATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCTGCCACCATGCCTGGCCAATTTTTGTGTTTTTAGTAGAGATAGGGTTTCACCATATTGCCCAGGCTGGTCTCTTGGCCAGGCTGGTCTCGAACTCCTGATCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGGCTAGTTTATTTATTTATTTATTTATTTTTATTTATTTTTTTGAGACAGAATTTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGAGATCTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAATAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTTGATGTCCTGACCTTGTGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCAGCCAGCTAGTTTTTTAAAATAATTTTTTGTAGAGGTGGGTTTTGGGCTATGTTGCCCAGGCTGGTCTCAGACTCCTGGCTTTAAGCAATCCTCCAGCCTTAGCCTCCCAAAGTGCAGGGATTACAGGGGTTTGAGCCACCACACTGGGCCAGTTTGTTAGATCTTTATATAAGGATTCAATTAGGCTGCTTGTTTTGCCCAGTGGGGTAAAAGGTTTTTAGGCTGAGAAAGTGCATGATCGTCTTTTCCTCTTGTAAAAACCCCTCTGGCTGCTGTGTGAAGAGGATTGTAGCGAGGGGTGGCAGAAGGAGTCAGAGCCCAGCTGCGAAGTGAGGAGGGCCTTTCCAAAGGCAGTAGTGGACGGGACGGACAGAGGTGGGGGTCTTCTATGTGGCTGGCGGCCTGACCTGCTCACTCTGCTTTCAGCTGGTGATGGCCTCCCTGTACCACATCTATGTGGCCCTGGAGGAGGAGATTGAGCGCAACAAGGAGAGCCCAGTCTTCGCCCCTGTCTACTTCCCAGAAGAGCTGCACCGCAAGGCTGCCCTGGAGCAGGACCTGGCCTTCTGGTACGGGCCCCGCTGGCAGGAGGTCATCCCCTACACACCAGCCATGCAGCGCTATGTGAAGCGGCTCCACGAGGTGGGGCGCACAGAGCCCGAGCTGCTGGTGGCCCACGCCTACACCCGCTACCTGGGTGACCTGTCTGGGGGCCAGGTGCTCAAAAAGATTGCCCAGAAAGCCCTGGACCTGCCCAGCTCTGGCGAGGGCCTGGCCTTCTTCACCTTCCCCAACATTGCCAGTGCCACCAAGTTCAAGCAGCTCTACCGCTCCCGCATGAACTCCCTGGAGATGACTCCCGCAGTCAGGCAGAGGGTGATAGAAGAGGCCAAGACTGCGTTCCTGCTCAACATCCAGGTGAGGGTCGGGCAGCCTGGGGCAGCCTCTGCCTCCCCCCGTTGTTCCTCCAAGGGACCCTTCTCATTGTAGGGGAGGGTGCTATAGGTCATGGTTAACACAGGGAACCAGAGTTCCAGCACTGCCACTTACTAGCTGGGTGATCTTGGGCAAATGCCTTCATCTCTCTGTACCTCAGTTTCCCTATCTGTAAAATAGGGATAATAATGGTACCTATATCTTAGACTTATAAGGCTTGAGTGAATTTACAGCAGTAAAGTCCCCACAGCAGTGTCTGGCACAGAGGAAGCCCTCAAACATTCACTACTGTCATAATGGGACATGAGAATCAGTTGTAGCTCTCTGTGACAACAGTCTGTGGCAATGTATAAGTTGTGTGTGCACTAGTGTATAGCCAGGTTGGCACTCCCAGGGTTACAGGTGGCCTCTGCCTTCCAGGGACTCTCAGCCTAGCCAGAGAGGTTTACCTCTTTCTACAAGTGTCTCAAATCCAGGGGGAAGGTGGGGTTTGCGCAAAGCCTGGAAGGATGAATTCTTGGGCAGAGGTGGAGGGGTGAGGGGCTCCTTCTAACCAGATGTCATAGAGCCTTCTCTCTCTGCCACCCCCTGGAGGTGCCATGGGGCCTGGGGCTCGGGGTCATGCCCTCCTGGCTCCCTACTCCCAGCCGTGGATTGCAGAAGATTCTGGTCCTGGCCCCTGTTACGGAACAAGGCCTTTCCCTTCCACCCTCCCCCTTCAGAAAATCCAGTCCGTCTTGGAGGAAGAAAATCTGTGTCTTTCAGAGAAGTGTAGGCAAAAGAAAAGGGCCAGGTGCAGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGTGGGCGGATTGCTTGAGCTCAGGAGTTTCAGACCAGCCTGAGCAACATGGTGAGACCCTGTCTCTATCAAAAATAAAAAATAAAAAAAAATTTAAAGGAAAAAAATGTTTTTAAAAGAAAAGGGATTTGGAATCAGAACTGGCTCTCAGGCTCGTGCCTATAATACCAACACTTTGGGAGGCCAAAGCAGGAAAATGGCTTGAGCCCAGGAGTTTGAGACCAGCCCTGGCAACACAGTGAGACCCCATCTCTACAAAAACATGAAAAAATTAGCCAGACATAGTAGCGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTGCAGTAAGCCATGATTATGCTACTGCACTCCAGCCTGGGCAACGGCAACAGAGCAAGACTCTGTCTCAAAAACCAAAAAAACAAAAACAAAAACAAAAAAAAACGGCTCTTGGCTGGCCGGGCGTGGTGGGTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAAGTCAGGAGATCGAGACCATCCTGACTAACACGGTGAAACCCCATCTCTACTAAAAAAAAGAAAATACAAAAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCCGTATTAAAAACAAAAAACAAACAAAAAAAAACGGCTCTTAGTGCCTGACCTCTGGATC
|
ACCAGCCCCATCTAGTATGTGGCAGGTGAGGGAACTGACTAGCACAGTTGGCTAGCACAGTCACACGGACCTCAGATCATCTGCTCTAGGATAGGATAGGAAGCTGGGACCAGAGAAAGCAAGTGGCTCACCCATGGTCACACAGTTAAGGACTGGCAGAGTTGGGTAAGAACCAGGTCCGTCACACTCAAAAACCCAGGCTCTTTTGTACCAGACTGCCTGGCTTTCTGTCCCCTCAAGGAATAGAGCTGCTTTGAATGTTTGTGGCTCAGAAATAACTCAGAAACTCCAACCTAAATGTCTTAACTTTGTTCTCCTTCAAATTTAAACGGGCGTATTAATGTGTAACGGGAGTTAGTGCCCCAAGCCAAGGTACACTCAAGACCTGTTGCCTCAGCCCAGCATGCAGAGGTGGTGGGGTTCAGAATAGGCCTCCAGGAAGGAGAATTGTGCCCTGTAGTTGGTTACGCAGAGGTCAAAAGCCAGAAGCACATGGCCAATCTCCTTTAAGCACTTTCATTTCAGCTGTTCCCCTCTCCTGAGCCATGGTGGGTCCCTGGCAATGCCCGGTCTTCAATCTAGTTTCATTTCTTACTAGCTGTGCAACCTCCATGTCTCATACCCTCTCTGAGCCTTAGTTTCCTTTTCTGTAAAATGGGAATAGCAATTCCTTTGTTGGATTTTTTTTTTTTTTTTTTCTGAGACAGGGTCTTGCTCACTCTGTTCCCCAAGCTGGAGTACAGTGATATGATCACAGCTCACTGCAACCTTGAAATCCTGGGCTCAAGTGATACCCCTGCCTCCGCCTCTGGAGTAGCTGGGACTATAGGCATGCACCCCCACAGCCATACCTGGCTTTTTTTTTTTTTTTTTTTTTTCTGAGTCAAAGTCTTGCTCTGTCGCCCAGGCTGGAGCGCAATGGCGTGATCTCGGCTCACTGCAACCACTGCCTCCTGGGTTCAAGCAATTCTCCTGACTCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCTGCCACCATGCCTGGCCAATTTTTGTGTTTTTAGTAGAGATAGGGTTTCACCATATTGCCCAGGCTGGTCTCTTGGCCAGGCTGGTCTCGAACTCCTGATCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCCAGCTGGCTAGTTTATTTATTTATTTATTTATTTTTATTTATTTTTTTGAGACAGAATTTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGAGATCTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAATAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTTGATGTCCTGACCTTGTGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCAGCCAGCTAGTTTTTTAAAATAATTTTTTGTAGAGGTGGGTTTTGGGCTATGTTGCCCAGGCTGGTCTCAGACTCCTGGCTTTAAGCAATCCTCCAGCCTTAGCCTCCCAAAGTGCAGGGATTACAGGGGTTTGAGCCACCACACTGGGCCAGTTTGTTAGATCTTTATATAAGGATTCAATTAGGCTGCTTGTTTTGCCCAGTGGGGTAAAAGGTTTTTAGGCTGAGAAAGTGCATGATCGTCTTTTCCTCTTGTAAAAACCCCTCTGGCTGCTGTGTGAAGAGGATTGTAGCGAGGGGTGGCAGAAGGAGTCAGAGCCCAGCTGCGAAGTGAGGAGGGCCTTTCCAAAGGCAGTAGTGGACGGGACGGACAGAGGTGGGGGTCTTCTATGTGGCTGGCGGCCTGACCTGCTCACTCTGCTTTCAGCTGGTGATGGCCTCCCTGTACCACATCTATGTGGCCCTGGAGGAGGAGATTGAGCGCAACAAGGAGAGCCCAGTCTTCGCCCCTGTCTACTTCCCAGAAGAGCTGCACCGCAAGGCTCCAGCAGGACCTGGCCTTCTGGTACGGGCCCCGCTGGCAGGAGGTCATCCCCTACACACCAGCCATGCAGCGCTATGTGAAGCGGCTCCACGAGGTGGGGCGCACAGAGCCCGAGCTGCTGGTGGCCCACGCCTACACCCGCTACCTGGGTGACCTGTCTGGGGGCCAGGTGCTCAAAAAGATTGCCCAGAAAGCCCTGGACCTGCCCAGCTCTGGCGAGGGCCTGGCCTTCTTCACCTTCCCCAACATTGCCAGTGCCACCAAGTTCAAGCAGCTCTACCGCTCCCGCATGAACTCCCTGGAGATGACTCCCGCAGTCAGGCAGAGGGTGATAGAAGAGGCCAAGACTGCGTTCCTGCTCAACATCCAGGTGAGGGTCGGGCAGCCTGGGGCAGCCTCTGCCTCCCCCCGTTGTTCCTCCAAGGGACCCTTCTCATTGTAGGGGAGGGTGCTATAGGTCATGGTTAACACAGGGAACCAGAGTTCCAGCACTGCCACTTACTAGCTGGGTGATCTTGGGCAAATGCCTTCATCTCTCTGTACCTCAGTTTCCCTATCTGTAAAATAGGGATAATAATGGTACCTATATCTTAGACTTATAAGGCTTGAGTGAATTTACAGCAGTAAAGTCCCCACAGCAGTGTCTGGCACAGAGGAAGCCCTCAAACATTCACTACTGTCATAATGGGACATGAGAATCAGTTGTAGCTCTCTGTGACAACAGTCTGTGGCAATGTATAAGTTGTGTGTGCACTAGTGTATAGCCAGGTTGGCACTCCCAGGGTTACAGGTGGCCTCTGCCTTCCAGGGACTCTCAGCCTAGCCAGAGAGGTTTACCTCTTTCTACAAGTGTCTCAAATCCAGGGGGAAGGTGGGGTTTGCGCAAAGCCTGGAAGGATGAATTCTTGGGCAGAGGTGGAGGGGTGAGGGGCTCCTTCTAACCAGATGTCATAGAGCCTTCTCTCTCTGCCACCCCCTGGAGGTGCCATGGGGCCTGGGGCTCGGGGTCATGCCCTCCTGGCTCCCTACTCCCAGCCGTGGATTGCAGAAGATTCTGGTCCTGGCCCCTGTTACGGAACAAGGCCTTTCCCTTCCACCCTCCCCCTTCAGAAAATCCAGTCCGTCTTGGAGGAAGAAAATCTGTGTCTTTCAGAGAAGTGTAGGCAAAAGAAAAGGGCCAGGTGCAGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGTGGGCGGATTGCTTGAGCTCAGGAGTTTCAGACCAGCCTGAGCAACATGGTGAGACCCTGTCTCTATCAAAAATAAAAAATAAAAAAAAATTTAAAGGAAAAAAATGTTTTTAAAAGAAAAGGGATTTGGAATCAGAACTGGCTCTCAGGCTCGTGCCTATAATACCAACACTTTGGGAGGCCAAAGCAGGAAAATGGCTTGAGCCCAGGAGTTTGAGACCAGCCCTGGCAACACAGTGAGACCCCATCTCTACAAAAACATGAAAAAATTAGCCAGACATAGTAGCGTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTCAAGGCTGCAGTAAGCCATGATTATGCTACTGCACTCCAGCCTGGGCAACGGCAACAGAGCAAGACTCTGTCTCAAAAACCAAAAAAACAAAAACAAAAACAAAAAAAAACGGCTCTTGGCTGGCCGGGCGTGGTGGGTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAAGTCAGGAGATCGAGACCATCCTGACTAACACGGTGAAACCCCATCTCTACTAAAAAAAAGAAAATACAAAAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCCGTATTAAAAACAAAAAACAAACAAAAAAAAACGGCTCTTAGTGCCTGACCTCTGGATCNNNNN
|
pathogenic
| 326,188 |
Determine if the mutation at chromosome 22, position 36282787 in gene MYH9 (myosin heavy chain 9) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
benign
|
TCTTAAGCTGACCCAGATAGTGTCCACTTTTTTAAATTTTTTTATTTATTTATTTTGAGACAGAGTCTCACTCTCGCCCAGGCTAGAGTGCAGTGGCACAATCTTAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACACCACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCTCGGCCTTGAACCAAGGTTTCTAAGATGCTCTTAGCCTCCTTGGATCTGGCCTAGCCCACCTTTCCATCTTAGCTTTTCTGCACAACCGCCCACAGCTAGCTCAGCCTACGCCTCAGCCAATCTGGTTCCCGACGATGCAGAGCCGGCATTGGCTGCAGAAGCCAGGCCTAGTCCTGTCCAGGGCCCCCTGGCCGCAGACAAATGCTACAGACACGGCTCGTAGCACATGGTTCTCTTTATTGTGATGCTCAGTGGAAAACATCTGTAAACCAGCTTACTGTAGTGGTGACAGCTGCAACACATGCTAAGGCACTTTTATTATATAAAAAAGGGGGTAGGGTGGGAGTTTCACTCACTCCTTTGTGACAGCAACTGGGACCTGAATTCAGAGCTTTGTAGGCATATGCAGCTTTTATATCACTTCATGATTTGAGAGTTTGTTTCCTTTAAAAAAAAAAAATGCCTTCTTGCCGTAAGTCTCAATGCAGCATATACAAAACAGTTAGGAATACAAGTAAATTCGGCAACCAGTGTAGACCAGTGAGGACGAGCTACTCTCTTCTAAACAAAGGCAGTGAGAAAGACTCGGAATTTTATCATTTATTACAAGAAAGGGGAAAAAAGAAAACCTTATTTTGCTTTCAAAAATACCTGTGCAGGTGGCAGATTTTTAAACTATACTGAGTCAACGGTGCAGGTAAACCACCCTCGGGCCCAGTCCTAGAGTAGACACAAGATCGCCTGGGAGGGCCGCTGGCCCCTCTAACGCTCTGGCTGTCAGACTTGGGACAAGTCCCTTAACCATTAAATATATTTGGTCCCCAAGAGTGTTGGGAGAAGCCACTGGAAGGCTGCTGGCCTTTCCAGCTTGACCCCGACAGCCTTGCTGTGGCAGAGGCAGGCTGTCCTCGGTAAAGGAGGGGAGGGGGCATTGCACTTGAGACATTTTAGAATCAGGAGGGAGACAGCGGACAGTGGCGCTGCCTGGGACAGGGTGGGGAGGAATCCACTCCTCCCCCCACCCCAGCCTTCTGTGCCCTGCACAGAGGTGGAGGCCCAGGGCCTGCTCCTTCTGGACCGCCCAGAGCCATGGGAGTGGGAGGCCCAAGGGGCAGAGGTGTGTGAGGTCACCACGTGTGATTGCAAACAGCAAAGAAAGGAGGAGGAGTGGGGGCGCTGGTGGCAGACGTCAGGGAGGCTGACGACTGCGGGGGCTCCGACTACCAAAAGGCCTCAGTCTGAAGAAAAATAGATTCATAGAAAACTCTGGCCCCTCCCCGGGGGCCTGCCCTGCTCGCCTCAACATCTTGTGCTTTTTGGCAAGAGAGGGCTGAGGAGCCTGCTGGTCGCTCTCTGCCTGGGCCCGGGCCCTGTCTCTTTGGTATCAGATTCTGAGCAGGGGAGGGAGCTGGAAGGGGATGCAGCAGAGGAAGCCAAATGCCCTCAACAACACCTGGAGGGAAACGGGATGGGGGGACGGGGCGGAGGGCAGGAGGAGGCATGTTCACAGCAGTCCCAAGAAGGTGGGGAGAGGCGTGCTGCGGGGTCTGGGAAGGGGAGGCTGTGGTGTCTGTCTGTCCATCCATCTCAGGCTGCAGGAGAAGAGGCTTATTCGGCAGGTTTGGCCTCAGCCCCATCCGCTTTGCCATCTACCTCTTCGTCGGAGCCATCCCCGGCGCCTTTCCGGGCCATTCGGCGGGGCACGACAAACGGCAGGTCCCCGCGCCTGGGGGCAGAGGTAGAAGCAGAGGGTCAGCGGGCCCGGCCAGGCCAGGGGCGGCCACAGCACAGCCCACACATCTCAAAGTGAATTCGAGAGGGAAACCAGGTGCCTGGCTGCTCCCACCAGAAAGAAGCAAAGTGGAGTCTTGGGAGCCACAGCTGAGCTAGACAGGACCACTCTCAGGAAAGCAGGCAAAGCTTCCCGCAAAATGTTTAGGTGTCGGACATCTTCACACACAACAGTAGCACAAAAACAGCTCAGGCAAACAGGACCAATTACAACAGGAAAGGCACAAAAGTAAGTGTAAAATGCCATCCTCTGTTGCAACTCCTATAAAACCGGTGAAACCAAGACAGGTAAACAGGTGTGCCTGTTCACACAGAGTACAAAGACAGGCACCCTCTTTCTACCACATGGCAGAAAATTCATATACAATACTGACTACTTATGCTTACAAAAAGAGCCCCATGAAGGCCTGGCACGGTGGCTCATCCTTGTAATCTCAGCTCTCTGGGAGGCCGAGGCGGGTGGAGCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTAAAACCCCGTCTCCACTAAAAATACAAAAATTAGCCGGGCATAGTGGTGCATGCCTGTAATCCCAGCTACTCCAGGGGCTGAGGGAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGCAAGCCGAGATTACACCATTGCACTCCAGTCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAACAAAAAAAATAAAAAAAACACGTAAACACATAAGAAAAAAACATGTAAGAAATGAGTATCTCAAAAAACACAAAATGAGAGTCTCAAAAAACCCACAAAAAAACACGTAAGAAATGAGAATCTCAGAGAATAAGATCCTCTGCTTCAAACATTCACTACTTCTTGAGTGTTAACACTCCCTGAGAAACGCAAAGGAGCGTTTTTAACCTCTGTAGGCATTGCTCATGAGGCTCACATTCGTTTTGCAGATATTTAACTGAGGCACCTAACATGTGCCAGGACTGGGCCAGGTGGCCTCAAGCAACTTCCAATTCAAAAGACAATAGACTTTTAGGACAGCTGGGAATAAACTACCTAGAGTTTACTGTGTGTTCAAAACACTAAGCTAAAGCCTCAAAGGCAAGGAGCCAGAAGGGGCAGGGATTGCTTTGTGCAGTCCTTTCTTGGTGACATTCGTGCCTTGCTTGTGGGCTCTGGTTGAGGAACAAGCTACCTTTTGAGAGAAGTGCCGAGGCAAAGGGGCGGGTGGGCAGGGCGGCTCACCTGAGCTTGTTCTTTAGGGAGCTGACTTCGCGGTTCATGGCATCGGCCGTCTCAGTGGCGTCCTCCAGCTCGCGCTGCAGTTTCCGGCGGGAGGCGTTGGCCCGCTGGGCCTCCTCTTCGGCCTCCTCCAGCTGCCGCTTGAGCTGCTTCAGGCGGGTAGATGCCTTGTCGGCCTGCGGAGATGGACGTGTGGCCCGTGGCCCCGGTTAGGGGCTCTGGGCGTGCAGCCAGTCAGCCCCACTGCCCTGCCTGTCACCCCATCTGCTGCCCAGCCCCGCTGCCCTTCTCACTGCCCCACCAGCGCCCACACCTGGTCCTTGTACTGCTCGGCGTTCCTCCGCTCGTCATCCACCTGCAGCAGCACATCCTTCAGCTTCTTCTCGGTCCGACGCACCTGTTTGCAGGCTGCCTGGCGCTCCCTGCATGACAGACAAGGTGGCTCAGAGGGAACACCCTCCTTCAGAGGGTCCGGCCAACAAGCCCTAACCAGGACCACCCATTCCCCGGGGCTCACTGGCATCTAGGGATCACGTAGGGAGGCCTTTGCTAGACACCTATGTGTACCCGGCTTCTTACGACGGGCACTGCAAATAGCCCCATTTACAGATGAGGAAATGGGCTCAGGTAAGGGAAGCGACACACCTCAAAGAGCATCTATGTAACTGGAAAAGAGGTCTGGGGGCCTACTGTAAACCCCATTCCCTCCAAGGAAGTCTCAGTCCTGCTGAGCCCATAGGACAAC
|
TCTTAAGCTGACCCAGATAGTGTCCACTTTTTTAAATTTTTTTATTTATTTATTTTGAGACAGAGTCTCACTCTCGCCCAGGCTAGAGTGCAGTGGCACAATCTTAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACACCACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCTCGGCCTTGAACCAAGGTTTCTAAGATGCTCTTAGCCTCCTTGGATCTGGCCTAGCCCACCTTTCCATCTTAGCTTTTCTGCACAACCGCCCACAGCTAGCTCAGCCTACGCCTCAGCCAATCTGGTTCCCGACGATGCAGAGCCGGCATTGGCTGCAGAAGCCAGGCCTAGTCCTGTCCAGGGCCCCCTGGCCGCAGACAAATGCTACAGACACGGCTCGTAGCACATGGTTCTCTTTATTGTGATGCTCAGTGGAAAACATCTGTAAACCAGCTTACTGTAGTGGTGACAGCTGCAACACATGCTAAGGCACTTTTATTATATAAAAAAGGGGGTAGGGTGGGAGTTTCACTCACTCCTTTGTGACAGCAACTGGGACCTGAATTCAGAGCTTTGTAGGCATATGCAGCTTTTATATCACTTCATGATTTGAGAGTTTGTTTCCTTTAAAAAAAAAAAATGCCTTCTTGCCGTAAGTCTCAATGCAGCATATACAAAACAGTTAGGAATACAAGTAAATTCGGCAACCAGTGTAGACCAGTGAGGACGAGCTACTCTCTTCTAAACAAAGGCAGTGAGAAAGACTCGGAATTTTATCATTTATTACAAGAAAGGGGAAAAAAGAAAACCTTATTTTGCTTTCAAAAATACCTGTGCAGGTGGCAGATTTTTAAACTATACTGAGTCAACGGTGCAGGTAAACCACCCTCGGGCCCAGTCCTAGAGTAGACACAAGATCGCCTGGGAGGGCCGCTGGCCCCTCTAACGCTCTGGCTGTCAGACTTGGGACAAGTCCCTTAACCATTAAATATATTTGGTCCCCAAGAGTGTTGGGAGAAGCCACTGGAAGGCTGCTGGCCTTTCCAGCTTGACCCCGACAGCCTTGCTGTGGCAGAGGCAGGCTGTCCTCGGTAAAGGAGGGGAGGGGGCATTGCACTTGAGACATTTTAGAATCAGGAGGGAGACAGCGGACAGTGGCGCTGCCTGGGACAGGGTGGGGAGGAATCCACTCCTCCCCCCACCCCAGCCTTCTGTGCCCTGCACAGAGGTGGAGGCCCAGGGCCTGCTCCTTCTGGACCGCCCAGAGCCATGGGAGTGGGAGGCCCAAGGGGCAGAGGTGTGTGAGGTCACCACGTGTGATTGCAAACAGCAAAGAAAGGAGGAGGAGTGGGGGCGCTGGTGGCAGACGTCAGGGAGGCTGACGACTGCGGGGGCTCCGACTACCAAAAGGCCTCAGTCTGAAGAAAAATAGATTCATAGAAAACTCTGGCCCCTCCCCGGGGGCCTGCCCTGCTCGCCTCAACATCTTGTGCTTTTTGGCAAGAGAGGGCTGAGGAGCCTGCTGGTCGCTCTCTGCCTGGGCCCGGGCCCTGTCTCTTTGGTATCAGATTCTGAGCAGGGGAGGGAGCTGGAAGGGGATGCAGCAGAGGAAGCCAAATGCCCTCAACAACACCTGGAGGGAAACGGGATGGGGGGACGGGGCGGAGGGCAGGAGGAGGCATGTTCACAGCAGTCCCAAGAAGGTGGGGAGAGGCGTGCTGCGGGGTCTGGGAAGGGGAGGCTGTGGTGTCTGTCTGTCCATCCATCTCAGGCTGCAGGAGAAGAGGCTTATTCGGCAGGTTTGGCCTCAGCCCCATCCGCTTTGCCATCTACCTCTTCGTCGGAGCCATCCCCGGCGCCTTTCCGGGCCATTCGGCGGGGCACGACAAACGGCAGGTCCCCGCGCCTGGGGCAGAGGTAGAAGCAGAGGGTCAGCGGGCCCGGCCAGGCCAGGGGCGGCCACAGCACAGCCCACACATCTCAAAGTGAATTCGAGAGGGAAACCAGGTGCCTGGCTGCTCCCACCAGAAAGAAGCAAAGTGGAGTCTTGGGAGCCACAGCTGAGCTAGACAGGACCACTCTCAGGAAAGCAGGCAAAGCTTCCCGCAAAATGTTTAGGTGTCGGACATCTTCACACACAACAGTAGCACAAAAACAGCTCAGGCAAACAGGACCAATTACAACAGGAAAGGCACAAAAGTAAGTGTAAAATGCCATCCTCTGTTGCAACTCCTATAAAACCGGTGAAACCAAGACAGGTAAACAGGTGTGCCTGTTCACACAGAGTACAAAGACAGGCACCCTCTTTCTACCACATGGCAGAAAATTCATATACAATACTGACTACTTATGCTTACAAAAAGAGCCCCATGAAGGCCTGGCACGGTGGCTCATCCTTGTAATCTCAGCTCTCTGGGAGGCCGAGGCGGGTGGAGCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTAAAACCCCGTCTCCACTAAAAATACAAAAATTAGCCGGGCATAGTGGTGCATGCCTGTAATCCCAGCTACTCCAGGGGCTGAGGGAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGCAAGCCGAGATTACACCATTGCACTCCAGTCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAACAAAAAAAATAAAAAAAACACGTAAACACATAAGAAAAAAACATGTAAGAAATGAGTATCTCAAAAAACACAAAATGAGAGTCTCAAAAAACCCACAAAAAAACACGTAAGAAATGAGAATCTCAGAGAATAAGATCCTCTGCTTCAAACATTCACTACTTCTTGAGTGTTAACACTCCCTGAGAAACGCAAAGGAGCGTTTTTAACCTCTGTAGGCATTGCTCATGAGGCTCACATTCGTTTTGCAGATATTTAACTGAGGCACCTAACATGTGCCAGGACTGGGCCAGGTGGCCTCAAGCAACTTCCAATTCAAAAGACAATAGACTTTTAGGACAGCTGGGAATAAACTACCTAGAGTTTACTGTGTGTTCAAAACACTAAGCTAAAGCCTCAAAGGCAAGGAGCCAGAAGGGGCAGGGATTGCTTTGTGCAGTCCTTTCTTGGTGACATTCGTGCCTTGCTTGTGGGCTCTGGTTGAGGAACAAGCTACCTTTTGAGAGAAGTGCCGAGGCAAAGGGGCGGGTGGGCAGGGCGGCTCACCTGAGCTTGTTCTTTAGGGAGCTGACTTCGCGGTTCATGGCATCGGCCGTCTCAGTGGCGTCCTCCAGCTCGCGCTGCAGTTTCCGGCGGGAGGCGTTGGCCCGCTGGGCCTCCTCTTCGGCCTCCTCCAGCTGCCGCTTGAGCTGCTTCAGGCGGGTAGATGCCTTGTCGGCCTGCGGAGATGGACGTGTGGCCCGTGGCCCCGGTTAGGGGCTCTGGGCGTGCAGCCAGTCAGCCCCACTGCCCTGCCTGTCACCCCATCTGCTGCCCAGCCCCGCTGCCCTTCTCACTGCCCCACCAGCGCCCACACCTGGTCCTTGTACTGCTCGGCGTTCCTCCGCTCGTCATCCACCTGCAGCAGCACATCCTTCAGCTTCTTCTCGGTCCGACGCACCTGTTTGCAGGCTGCCTGGCGCTCCCTGCATGACAGACAAGGTGGCTCAGAGGGAACACCCTCCTTCAGAGGGTCCGGCCAACAAGCCCTAACCAGGACCACCCATTCCCCGGGGCTCACTGGCATCTAGGGATCACGTAGGGAGGCCTTTGCTAGACACCTATGTGTACCCGGCTTCTTACGACGGGCACTGCAAATAGCCCCATTTACAGATGAGGAAATGGGCTCAGGTAAGGGAAGCGACACACCTCAAAGAGCATCTATGTAACTGGAAAAGAGGTCTGGGGGCCTACTGTAAACCCCATTCCCTCCAAGGAAGTCTCAGTCCTGCTGAGCCCATAGGACAACN
|
benign
| 326,294 |
Chromosome 22, position 36285338, gene MYH9 (myosin heavy chain 9): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
benign
|
TCTCTGGGAGGCCGAGGCGGGTGGAGCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTAAAACCCCGTCTCCACTAAAAATACAAAAATTAGCCGGGCATAGTGGTGCATGCCTGTAATCCCAGCTACTCCAGGGGCTGAGGGAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGCAAGCCGAGATTACACCATTGCACTCCAGTCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAACAAAAAAAATAAAAAAAACACGTAAACACATAAGAAAAAAACATGTAAGAAATGAGTATCTCAAAAAACACAAAATGAGAGTCTCAAAAAACCCACAAAAAAACACGTAAGAAATGAGAATCTCAGAGAATAAGATCCTCTGCTTCAAACATTCACTACTTCTTGAGTGTTAACACTCCCTGAGAAACGCAAAGGAGCGTTTTTAACCTCTGTAGGCATTGCTCATGAGGCTCACATTCGTTTTGCAGATATTTAACTGAGGCACCTAACATGTGCCAGGACTGGGCCAGGTGGCCTCAAGCAACTTCCAATTCAAAAGACAATAGACTTTTAGGACAGCTGGGAATAAACTACCTAGAGTTTACTGTGTGTTCAAAACACTAAGCTAAAGCCTCAAAGGCAAGGAGCCAGAAGGGGCAGGGATTGCTTTGTGCAGTCCTTTCTTGGTGACATTCGTGCCTTGCTTGTGGGCTCTGGTTGAGGAACAAGCTACCTTTTGAGAGAAGTGCCGAGGCAAAGGGGCGGGTGGGCAGGGCGGCTCACCTGAGCTTGTTCTTTAGGGAGCTGACTTCGCGGTTCATGGCATCGGCCGTCTCAGTGGCGTCCTCCAGCTCGCGCTGCAGTTTCCGGCGGGAGGCGTTGGCCCGCTGGGCCTCCTCTTCGGCCTCCTCCAGCTGCCGCTTGAGCTGCTTCAGGCGGGTAGATGCCTTGTCGGCCTGCGGAGATGGACGTGTGGCCCGTGGCCCCGGTTAGGGGCTCTGGGCGTGCAGCCAGTCAGCCCCACTGCCCTGCCTGTCACCCCATCTGCTGCCCAGCCCCGCTGCCCTTCTCACTGCCCCACCAGCGCCCACACCTGGTCCTTGTACTGCTCGGCGTTCCTCCGCTCGTCATCCACCTGCAGCAGCACATCCTTCAGCTTCTTCTCGGTCCGACGCACCTGTTTGCAGGCTGCCTGGCGCTCCCTGCATGACAGACAAGGTGGCTCAGAGGGAACACCCTCCTTCAGAGGGTCCGGCCAACAAGCCCTAACCAGGACCACCCATTCCCCGGGGCTCACTGGCATCTAGGGATCACGTAGGGAGGCCTTTGCTAGACACCTATGTGTACCCGGCTTCTTACGACGGGCACTGCAAATAGCCCCATTTACAGATGAGGAAATGGGCTCAGGTAAGGGAAGCGACACACCTCAAAGAGCATCTATGTAACTGGAAAAGAGGTCTGGGGGCCTACTGTAAACCCCATTCCCTCCAAGGAAGTCTCAGTCCTGCTGAGCCCATAGGACAACTGTCCTAGTGGGCAGGACCCCCCTGTACCTCCTGCTCTGATTCACTCTCAGACACAGCCACCAAAACTCCTGGCTTTAGAGGTGGAACAGAGAATCCTGTTCAAACCCCACAAGCTCCCCCAACCACCCAACCTGTGGAAGGGATGAGGGCCCCATCAGGAGGGAGGGAAACAGCCCCAGGCTCAGGAGACAGAGAGCTGGTTGTGGCCCAGATTTGGGCAGGACTGCAGGGGGGCCAGAGTTTTTTCCAGGACAGCTGGGGTTGGGCGGGGCCAGGGGCACGTACTTGGTCTCGTTGTCCAGCTGCTCCTCCAGCTGTGCAATCTTGGCCTCGAGGGCGGTGATGGAGGCCTTGTACTTGGACTTGACAGTGCCCTCCATCTCCTGCAGCTTGACCTTAAGCTCCTTGTTCTGGCGTTCCAGCTGCTGCCGAGCATTCTCGTTCTTCTGGGCGTGGCTGCGCTCCAGGTTCAGGTCGGTGTTGATCTGGTCGATCTGCAGAAGAAGGGCCAGTGACCTTGGGGAGGGCTGGGGCCCTGGCTGGAGGGCATGAGCAGGGCCAGAGGAAGGTGGCAGCAGGATCCCACCAAACCCTTGGGGTCCAGAGTCTTGGGTCTCCCAGAAAAGGGAAGATTAGAAACTTCTGAACACCCAACACAGAAGCCAGAGGGGGACCTTTCAGGTCCAGGTGCCTGGACATTTTCCCCTAAGCGCCTGGGGAGCAGCTGGCACTTGGCCTGTGCTTCTGCCGGCTGGGTCCAAGGCCAGCTCTGCCGTGGTGGCTCCAGCCAGAGCCCAGAGTGGGAGAAGTCCTGGCACCCACCTGCAGGTTGGCCTTCTTCAGCCGGTCGTTGATCAGCTCCGTGTTGCCCTGCTCCTCCTCCAGCTCCTCCTCCAGCTGGGCGATGCGGGCCTCCAGACGCCGCTTCTCCTCTAACGCCAGGGCTCTGCGGGGTGGGCGGGAGAAGTGAGGGGCCTACCCTGGGGACACACCTGGTCCCCCCCAACTCTGCCCCCTCACTCAGCTCACCCTTTGCCGCTGCTGTTGGCGATCTCGTCAGCCAGCTCATCCCGCTCCTGCTGGGCCTGGCGCTTGGCACGCTCCGCGGCTGCCAGTTCCTGCCACAAAGACCCAGAGTGTGACCTAAAGGCAGCCACAGCCCCACAAGACCATCCTTCCCAGCCCCAGGCACCCTCCCCTCAAGCCCTTCCCCAGGCCCACCTCCCCACGAAGCCCTTCCTCCAGAAACCCTCTAGCTCACAGGGCTGGTGCCCCCCTGAAGATATAGCTTAAACACCATATGTTTATAAAACTCTTACATTTAAGTGCTAGGAATCAAGCCAGGTGCCAGGGTATGGCGATAAGTAAGAAGTGTCCTGGCCTAACCAGGGAGACCACGTGGACAGAGTCACTCAGGGCGGCCCCTCCCTGTTCTGGGTAAGCCAGAGCTTGGAGTCAGCTCTGGAGGCCACAGGCAGATGGCTACACCCTGGACGCACTCGCAGCCGGCACATCACGCTGCAGGGCACCCTCCAGACCTGGGAAACACTTCAGGACGGGCTCAGGTGCGACGGGCAGGGCGGCCGAGGGGACGCTCAGACCCCTTCTCACCAGGCAGCATTCACAGCAGGAGGTGGTGGTGGCCACAAAGCCTCATCTCATGTGAGGGATGCCAGTTTCACACACACACACACTCTGATCATACGAGGGAGCCCCGCTATGAAACGGAACCCTGGAGGGAATCCTTATGTAACCTGAGAGCCATCCCCAGCCAATTCCTGGAGCCCAGTAGGACTCCAGCCCTGTCCTCAGCTGAAAGCCCCACGCTGCCACCTGCTGGCCGCAGGGCAGCGGTGCCGCTCTCCATTGCAGCCCCACCCACCTCCTGCAACTGGATCATCTCGGCCTCCATGCTCTTCAGCTTCTTCTCGTTCTCTTTGGCCTGGGCCAGGATCTCCTCACGAGAGGCGCGGGTGTCATCCAGCTCGCGCATGCAGTCCTTCATCTGGGCCTGGGGTGGGGACAGAGGCTTGGCACCCCACCCAGCTCCTTGGCCCTCCACCCCAACCCTCATGGGTCACCTCGCCAACAGGGCTCATGGCTGGTGCTCCACTCAATGCTGTATTTAACCAACTAACCGTGGTGACAGGGCAAAAAGGCAACTAAAGACAATCATCTGTGTATCCCACCCCGTAATGCACACTTTGACAGTGTTCGTCACCGTGGACGTGAGCCCAAGCTGAGCTTCATTTTCTACTTTCTGTCCCCTCCTGTGGGCCGGAAGCCAGTGCCCATGGTGCCACCCCTAATGCGCACCTGCCACTCAAAACCAGTGCCCAGCCTGCCGGTCCATCCCCACCACAGGCAGGAAACACCTTTCCTTTTGTTATTCTCCTGTTACTTCTTTTAACACTAAAGACCTTTGTCAAATAGCCTTTTTTTCCTTTTGCAGATAAATCCGAAATTGAGATTCCCCAAATCAAAGAGAGTGACTGGCTGTGTGCAGCCCGACCACACCAGTAAAAAAATGCCACCAGCAATCAGAGCATC
|
TCTCTGGGAGGCCGAGGCGGGTGGAGCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTAAAACCCCGTCTCCACTAAAAATACAAAAATTAGCCGGGCATAGTGGTGCATGCCTGTAATCCCAGCTACTCCAGGGGCTGAGGGAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGCAAGCCGAGATTACACCATTGCACTCCAGTCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAACAAAAAAAATAAAAAAAACACGTAAACACATAAGAAAAAAACATGTAAGAAATGAGTATCTCAAAAAACACAAAATGAGAGTCTCAAAAAACCCACAAAAAAACACGTAAGAAATGAGAATCTCAGAGAATAAGATCCTCTGCTTCAAACATTCACTACTTCTTGAGTGTTAACACTCCCTGAGAAACGCAAAGGAGCGTTTTTAACCTCTGTAGGCATTGCTCATGAGGCTCACATTCGTTTTGCAGATATTTAACTGAGGCACCTAACATGTGCCAGGACTGGGCCAGGTGGCCTCAAGCAACTTCCAATTCAAAAGACAATAGACTTTTAGGACAGCTGGGAATAAACTACCTAGAGTTTACTGTGTGTTCAAAACACTAAGCTAAAGCCTCAAAGGCAAGGAGCCAGAAGGGGCAGGGATTGCTTTGTGCAGTCCTTTCTTGGTGACATTCGTGCCTTGCTTGTGGGCTCTGGTTGAGGAACAAGCTACCTTTTGAGAGAAGTGCCGAGGCAAAGGGGCGGGTGGGCAGGGCGGCTCACCTGAGCTTGTTCTTTAGGGAGCTGACTTCGCGGTTCATGGCATCGGCCGTCTCAGTGGCGTCCTCCAGCTCGCGCTGCAGTTTCCGGCGGGAGGCGTTGGCCCGCTGGGCCTCCTCTTCGGCCTCCTCCAGCTGCCGCTTGAGCTGCTTCAGGCGGGTAGATGCCTTGTCGGCCTGCGGAGATGGACGTGTGGCCCGTGGCCCCGGTTAGGGGCTCTGGGCGTGCAGCCAGTCAGCCCCACTGCCCTGCCTGTCACCCCATCTGCTGCCCAGCCCCGCTGCCCTTCTCACTGCCCCACCAGCGCCCACACCTGGTCCTTGTACTGCTCGGCGTTCCTCCGCTCGTCATCCACCTGCAGCAGCACATCCTTCAGCTTCTTCTCGGTCCGACGCACCTGTTTGCAGGCTGCCTGGCGCTCCCTGCATGACAGACAAGGTGGCTCAGAGGGAACACCCTCCTTCAGAGGGTCCGGCCAACAAGCCCTAACCAGGACCACCCATTCCCCGGGGCTCACTGGCATCTAGGGATCACGTAGGGAGGCCTTTGCTAGACACCTATGTGTACCCGGCTTCTTACGACGGGCACTGCAAATAGCCCCATTTACAGATGAGGAAATGGGCTCAGGTAAGGGAAGCGACACACCTCAAAGAGCATCTATGTAACTGGAAAAGAGGTCTGGGGGCCTACTGTAAACCCCATTCCCTCCAAGGAAGTCTCAGTCCTGCTGAGCCCATAGGACAACTGTCCTAGTGGGCAGGACCCCCCTGTACCTCCTGCTCTGATTCACTCTCAGACACAGCCACCAAAACTCCTGGCTTTAGAGGTGGAACAGAGAATCCTGTTCAAACCCCACAAGCTCCCCCAACCACCCAACCTGTGGAAGGGATGAGGGCCCCATCAGGAGGGAGGGAAACAGCCCCAGGCTCAGGAGACAGAGAGCTGGTTGTGGCCCAGATTTGGGCAGGACTGCAGGGGGGCCAGAGTTTTTTCCAGGACAGCTGGGGTTGGGCGGGGCCAGGGGCACGTACTTGGTCTCGTTGTCCAGCTGCTCCTCCAGCTGTGCAATCTTGGCCTCGAGGGCGGTGATGGAGGCCTTGTACTTGGACTTGACAGTGCCCTCCATCTCCTGCAGCTTGACCTTAAGCTCCTTGTTCTGGCGTTCCAGCTGCTGCCGAGCATTCTCGTTCTTCTGGGCGTGGCTGCGCTCCAGGTTCAGGTCGGTGTTGATCTGGTCGATCTGCAGAAGAGGGCCAGTGACCTTGGGGAGGGCTGGGGCCCTGGCTGGAGGGCATGAGCAGGGCCAGAGGAAGGTGGCAGCAGGATCCCACCAAACCCTTGGGGTCCAGAGTCTTGGGTCTCCCAGAAAAGGGAAGATTAGAAACTTCTGAACACCCAACACAGAAGCCAGAGGGGGACCTTTCAGGTCCAGGTGCCTGGACATTTTCCCCTAAGCGCCTGGGGAGCAGCTGGCACTTGGCCTGTGCTTCTGCCGGCTGGGTCCAAGGCCAGCTCTGCCGTGGTGGCTCCAGCCAGAGCCCAGAGTGGGAGAAGTCCTGGCACCCACCTGCAGGTTGGCCTTCTTCAGCCGGTCGTTGATCAGCTCCGTGTTGCCCTGCTCCTCCTCCAGCTCCTCCTCCAGCTGGGCGATGCGGGCCTCCAGACGCCGCTTCTCCTCTAACGCCAGGGCTCTGCGGGGTGGGCGGGAGAAGTGAGGGGCCTACCCTGGGGACACACCTGGTCCCCCCCAACTCTGCCCCCTCACTCAGCTCACCCTTTGCCGCTGCTGTTGGCGATCTCGTCAGCCAGCTCATCCCGCTCCTGCTGGGCCTGGCGCTTGGCACGCTCCGCGGCTGCCAGTTCCTGCCACAAAGACCCAGAGTGTGACCTAAAGGCAGCCACAGCCCCACAAGACCATCCTTCCCAGCCCCAGGCACCCTCCCCTCAAGCCCTTCCCCAGGCCCACCTCCCCACGAAGCCCTTCCTCCAGAAACCCTCTAGCTCACAGGGCTGGTGCCCCCCTGAAGATATAGCTTAAACACCATATGTTTATAAAACTCTTACATTTAAGTGCTAGGAATCAAGCCAGGTGCCAGGGTATGGCGATAAGTAAGAAGTGTCCTGGCCTAACCAGGGAGACCACGTGGACAGAGTCACTCAGGGCGGCCCCTCCCTGTTCTGGGTAAGCCAGAGCTTGGAGTCAGCTCTGGAGGCCACAGGCAGATGGCTACACCCTGGACGCACTCGCAGCCGGCACATCACGCTGCAGGGCACCCTCCAGACCTGGGAAACACTTCAGGACGGGCTCAGGTGCGACGGGCAGGGCGGCCGAGGGGACGCTCAGACCCCTTCTCACCAGGCAGCATTCACAGCAGGAGGTGGTGGTGGCCACAAAGCCTCATCTCATGTGAGGGATGCCAGTTTCACACACACACACACTCTGATCATACGAGGGAGCCCCGCTATGAAACGGAACCCTGGAGGGAATCCTTATGTAACCTGAGAGCCATCCCCAGCCAATTCCTGGAGCCCAGTAGGACTCCAGCCCTGTCCTCAGCTGAAAGCCCCACGCTGCCACCTGCTGGCCGCAGGGCAGCGGTGCCGCTCTCCATTGCAGCCCCACCCACCTCCTGCAACTGGATCATCTCGGCCTCCATGCTCTTCAGCTTCTTCTCGTTCTCTTTGGCCTGGGCCAGGATCTCCTCACGAGAGGCGCGGGTGTCATCCAGCTCGCGCATGCAGTCCTTCATCTGGGCCTGGGGTGGGGACAGAGGCTTGGCACCCCACCCAGCTCCTTGGCCCTCCACCCCAACCCTCATGGGTCACCTCGCCAACAGGGCTCATGGCTGGTGCTCCACTCAATGCTGTATTTAACCAACTAACCGTGGTGACAGGGCAAAAAGGCAACTAAAGACAATCATCTGTGTATCCCACCCCGTAATGCACACTTTGACAGTGTTCGTCACCGTGGACGTGAGCCCAAGCTGAGCTTCATTTTCTACTTTCTGTCCCCTCCTGTGGGCCGGAAGCCAGTGCCCATGGTGCCACCCCTAATGCGCACCTGCCACTCAAAACCAGTGCCCAGCCTGCCGGTCCATCCCCACCACAGGCAGGAAACACCTTTCCTTTTGTTATTCTCCTGTTACTTCTTTTAACACTAAAGACCTTTGTCAAATAGCCTTTTTTTCCTTTTGCAGATAAATCCGAAATTGAGATTCCCCAAATCAAAGAGAGTGACTGGCTGTGTGCAGCCCGACCACACCAGTAAAAAAATGCCACCAGCAATCAGAGCATCN
|
benign
| 326,315 |
Does the chromosome 22 mutation at position 36293308 within gene MYH9 (myosin heavy chain 9) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
benign
|
TTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTATACATGGGAGACTTTTCATTTTGTTGTGTACAAGAAAAATTCTTCTGCCTTGGGATCTTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCCAAAGGGTCCTCTGCCTAGGAAAACCGGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAGACAGTCAAACCAGTTCATTAGAGAAAATCTGAAAAATGTAAAAAATCAGAAAGGAAAAGTCACTCCTCAACCCATCGCATGAAGACGCCCTCTTCCGCTGGCCTTCTCCCTGGGACCCTCAACAAGCCAGAGCCTGAGGGTCCTCTAAGCACTGGCCCCGCACGGCCCCTCCCCGGCGAGACCCTGAGGGAGCCCAGGCTTTCTCTGATGGGCCCTTTGCTTTGGACTCAGTGCTTGAAGGAGAGGAAATGCAAAGGATGGGGCCAACGGCCACACACCTGGTCAAACTTCTTCTGCTTCTTCTCCAGGTTGCACGCGCTCTGGCGCTGGTGGTCCAGGTCCACCAGCAGGTCGTCCAGCTCCTGCTGCAGCCGCGTCTTGGTCTTCTCCAGCTTGTCGTAGGCGGCCACCTTCTCCTCGTGCCGCTGGCTCAGGCCCTCCAGGTCCTTCTGGAGCTTCCTCTTCACCTCCTCAGCAGTTTCCAGGCACCCCACACTGTCCTCCATCTTCTTTTTCATGTCGGCCACCTGGGCAGGAGCAAGGAGTAAGCAGATGCCCGAGATGGCACCTGCTCAGGTGGCACACCCGTCCCTGGGGCAGCTGGGAGCCTGCCTGCCACACCGTGGAAGGGGCACCAGGGATCTGCCCAGTTATGAAACCGCCTCCCCCAGTCACTTCCCTCTCCACAGGGGCGAGACAAATGGAGCTTCTGCAAAGGGGCATCTGTCTACTGTGTGAAGCCCGGGGGAGGCTGACCCCCAGGCCCGCTGTGGGGGCTCCCAGCCCACATCCACACCAAGCCTCTTGCTCTACGGAGACTGCTCCCAGAGAGCAGGGCCAGTGCCCTGTAGGGTGTCCACGGGGTCCCCATCACCCAGCCCCATCCTTGCACTTGGAGATAAACCCACAATCAGGCACGCTCGCGGGCTACTCCTACCCTGACTGTGGAATGGACTCCCAGCCCATCCCGAGGTGGTTCAGGCCTTCTGGCCTGGCACATGGAGGCCCAAGATAGGATCTAGAGCAGGGGCTCTGAAACCATATTAGGCTACGGACCCCTTCGCAGTCTAGAGAGGCCAAGGGACTCCTTCTCATGACAATGTTGTAACAGGCATGAAATAAACATGGGATCAGCAGGGCAACCAGTACAGAAAAATGCAGTTGTCACACATTCTAAAAAACCATGGCTCAGGAAGCCACGTGCTGCTAGATAGCACATCAGATAACAAACAGCGCAGGCCTGGGACCCATGAGGCCAAGGAGCTCGGCCACAACCCTGACAGGGTAACTGGCCATTTCTACAGATGATGACGGCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGTCCCCCAGGCCTCCAAACCTGGGCATGGAGGGTGGCGATCTGCTTCTCCAGGTTGTGCTTGGCCTCCTCCTCCTCCTCCAGCTGCTCCCGGAAGGAATTCTTCTCGTCCTCCACCTGCTTGAGCTTGGTGCTCAGGCTCAGCTTCTGCCGGTTCTCCTCCTGCAGCAGCTCCTACTCGCGGGTTGAGAGGGGTGCGGGTGCTTAGGAGGGTGGTGTCCAAAACCCAGGAACCCCACACCCTTGAGGAGAGGGAGGAGCTGGTCCTGCTGATTTAGGGGATGGCCACGTAAAGACCTGGAGGGAGCTGGGAGGACGCAGAGACCCACCCACAGGATGAAGCAGATGAAGGAGAGGATGGGCAATCCGATGGGCTCTGAAGCTAATGTTGCGTGGACACAGAGGCCTTTCTGGAGGGGTCCACCTTCTGGGAACCTGGCGCCACCCCTACCTGAGTGTCCTGCAGCTGGGACTCCAGCGCGGAGAAGTCCTTGGTGAGCTTGCTGGACTTGCTGTCGGACTGGCTGAGAAGCCCGGTCACGTTGTCCAGCTCCACCTGCACCGGGCGGGGAGACACAAAGGACCATGGACCCACCCCCACTGCTCCTGCCCCACCTCATCTCCTTTAGGTAAAGCTGGACCTGAGTCACAAGCTGAACCATGAGGGTCTGAGGAGCCAGTTTGAGAAGAGAGAGAGACAGAGAGCACACATGCACCTGGGGACCTGGGCCACAACTGCTGCTAGGGCCCACTGCCCGCGCCAGGGTCCTGGCGGAGGCCTCACCTGCAGCTTGGTGACCTTGTCGGCCAGCTCTGTGCGCACGCGCTCTCCCTCGTTGAACTTGACCTGCAGCTCCTGCAGCTGCGCCTCCACTTTCTTGCGCTTGTGCTCCGAGTCCCCTTTGCCCTGCAGCAGCACCTTCACCTCGTTGGCCAGCTCCCCCCGCTCGTTCTCCAGAGTCTGCTTTGCCTTCTCGAGGTTTGCTTTCACCTAGCAGGGAAGAAAGCAAAGACGTGAGTGGGGGCCTCCTGACACAAGGCTGGCTGGTCTATCATCACTGGACCCTAGATCCAGACATCGCTGCTTCTGCAGCCCTGACGACGGTGTGCCTGCGTCCTGGACTCAGACGGCTCGGGCCTCATCTGTCCTGTCCTCTTCTCTCTTAGCTGGTGGGTGACACTTGGTTCCTGTCTTCACTGCTTAGGACATCTCACAGCTTCCCCATCTCTAAAATAATACCTGCCCAGCCTTCTGCCCTGGGTAGAGGCCAGGTTCTAGGGCATGGCATTGGTGTTGCAGATGTTAGCAATATTTGTAACGCAATAAGGGGAACTATAATTGTTTGCAGTTAGACTTCCAATAAAGCCTGTCTGAAGTCTGATGTTCAAAGTAACGATGTAATGTTTTCACCCTCAAATAATCACGAGACAGACATACCATAATCCTCCCTTATGAACAGGGAAACTGAGGCACGAGTCACAAAGCCCCTTAGAAGGGGAGCCTGGCCTCAGAACCAGGCAGTTGGGTAGAACCCTGCAACTGCTCTGCAGGACTGGTTTGGATTCTGTGGGCCCAGCACGGGGAACCCTGCCCTCCCCCTGCGGTCTCAGGGAGGCTCCGCACCCGCTTCGTCTGCTCCAGCTGCTCCGCCAGCTCCTCCACGGCCTGTGAGTGCTTCTGCCTCATCTCCTGGATCTGGGCCTCGTGGGTCTTGGCCTCCTCCTCCAGGGTCTTCTTCAGGATGTTCACCTCCTGCTCACGTTTTGACCTGGACAGAGAAATCCCCTCAGAGTGGAGGCCGGGGATGCTGGAGCGAGGCTGTCCCTGGGGCTCTTCCCTGACCAAAGAGAGGCCTGGCCAGGGCACAGGCACTCCAGGCAGCTTTTCTACCCACCGGCCCCTCCTAGCCATCTATCCCATAGCCCAGGCTCAAATACGCCCTGTGAGAGCTTCTGTAGCCTTTCAGCTTTAAAGCCCAGCCTTGCCTCACCCCCAACTTTGAGCCAGGTCCTTCAACAGACTTTCTACTCTGTAGAGAGAAACCGCT
|
TTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTATACATGGGAGACTTTTCATTTTGTTGTGTACAAGAAAAATTCTTCTGCCTTGGGATCTTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGGAAGGCCAAAGGGTCCTCTGCCTAGGAAAACCGGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAGACAGTCAAACCAGTTCATTAGAGAAAATCTGAAAAATGTAAAAAATCAGAAAGGAAAAGTCACTCCTCAACCCATCGCATGAAGACGCCCTCTTCCGCTGGCCTTCTCCCTGGGACCCTCAACAAGCCAGAGCCTGAGGGTCCTCTAAGCACTGGCCCCGCACGGCCCCTCCCCGGCGAGACCCTGAGGGAGCCCAGGCTTTCTCTGATGGGCCCTTTGCTTTGGACTCAGTGCTTGAAGGAGAGGAAATGCAAAGGATGGGGCCAACGGCCACACACCTGGTCAAACTTCTTCTGCTTCTTCTCCAGGTTGCACGCGCTCTGGCGCTGGTGGTCCAGGTCCACCAGCAGGTCGTCCAGCTCCTGCTGCAGCCGCGTCTTGGTCTTCTCCAGCTTGTCGTAGGCGGCCACCTTCTCCTCGTGCCGCTGGCTCAGGCCCTCCAGGTCCTTCTGGAGCTTCCTCTTCACCTCCTCAGCAGTTTCCAGGCACCCCACACTGTCCTCCATCTTCTTTTTCATGTCGGCCACCTGGGCAGGAGCAAGGAGTAAGCAGATGCCCGAGATGGCACCTGCTCAGGTGGCACACCCGTCCCTGGGGCAGCTGGGAGCCTGCCTGCCACACCGTGGAAGGGGCACCAGGGATCTGCCCAGTTATGAAACCGCCTCCCCCAGTCACTTCCCTCTCCACAGGGGCGAGACAAATGGAGCTTCTGCAAAGGGGCATCTGTCTACTGTGTGAAGCCCGGGGGAGGCTGACCCCCAGGCCCGCTGTGGGGGCTCCCAGCCCACATCCACACCAAGCCTCTTGCTCTACGGAGACTGCTCCCAGAGAGCAGGGCCAGTGCCCTGTAGGGTGTCCACGGGGTCCCCATCACCCAGCCCCATCCTTGCACTTGGAGATAAACCCACAATCAGGCACGCTCGCGGGCTACTCCTACCCTGACTGTGGAATGGACTCCCAGCCCATCCCGAGGTGGTTCAGGCCTTCTGGCCTGGCACATGGAGGCCCAAGATAGGATCTAGAGCAGGGGCTCTGAAACCATATTAGGCTACGGACCCCTTCGCAGTCTAGAGAGGCCAAGGGACTCCTTCTCATGACAATGTTGTAACAGGCATGAAATAAACATGGGATCAGCAGGGCAACCAGTACAGAAAAATGCAGTTGTCACACATTCTAAAAAACCATGGCTCAGGAAGCCACGTGCTGCTAGATAGCACATCAGATAACAAACAGCGCAGGCCTGGGACCCATGAGGCCAAGGAGCTCGGCCACAACCCTGACAGGGTAACTGGCCATTTCTACAGATGATGACGGCACAGGGACTGCCACCACCATGGCTTGCTGCCTACATCCATAATGGAAGCAATGCTGAATTTCAGCTAAAGACTGGTGAAAATAAAGGTGTAAAATAGTGAAAATAGTGGTGTCCCCCATCTAAGTCCACAGATCCCTGGATTCCTTTCCTTGAGAGCACTGATGTGGGAGAGCACGGTTGGCTTCCCAGGGGGAGAGCAGCAATGGGCCGGCCCAGCGGGCAGGGCTGTCCTGCAGTGCCCAGGCCAGTGCCCGGCCAGCAGCTCCCCAGCCTGCAGAGTCCGGCCGGCCTCCAAACCTGGGCATGGAGGGTGGCGATCTGCTTCTCCAGGTTGTGCTTGGCCTCCTCCTCCTCCTCCAGCTGCTCCCGGAAGGAATTCTTCTCGTCCTCCACCTGCTTGAGCTTGGTGCTCAGGCTCAGCTTCTGCCGGTTCTCCTCCTGCAGCAGCTCCTACTCGCGGGTTGAGAGGGGTGCGGGTGCTTAGGAGGGTGGTGTCCAAAACCCAGGAACCCCACACCCTTGAGGAGAGGGAGGAGCTGGTCCTGCTGATTTAGGGGATGGCCACGTAAAGACCTGGAGGGAGCTGGGAGGACGCAGAGACCCACCCACAGGATGAAGCAGATGAAGGAGAGGATGGGCAATCCGATGGGCTCTGAAGCTAATGTTGCGTGGACACAGAGGCCTTTCTGGAGGGGTCCACCTTCTGGGAACCTGGCGCCACCCCTACCTGAGTGTCCTGCAGCTGGGACTCCAGCGCGGAGAAGTCCTTGGTGAGCTTGCTGGACTTGCTGTCGGACTGGCTGAGAAGCCCGGTCACGTTGTCCAGCTCCACCTGCACCGGGCGGGGAGACACAAAGGACCATGGACCCACCCCCACTGCTCCTGCCCCACCTCATCTCCTTTAGGTAAAGCTGGACCTGAGTCACAAGCTGAACCATGAGGGTCTGAGGAGCCAGTTTGAGAAGAGAGAGAGACAGAGAGCACACATGCACCTGGGGACCTGGGCCACAACTGCTGCTAGGGCCCACTGCCCGCGCCAGGGTCCTGGCGGAGGCCTCACCTGCAGCTTGGTGACCTTGTCGGCCAGCTCTGTGCGCACGCGCTCTCCCTCGTTGAACTTGACCTGCAGCTCCTGCAGCTGCGCCTCCACTTTCTTGCGCTTGTGCTCCGAGTCCCCTTTGCCCTGCAGCAGCACCTTCACCTCGTTGGCCAGCTCCCCCCGCTCGTTCTCCAGAGTCTGCTTTGCCTTCTCGAGGTTTGCTTTCACCTAGCAGGGAAGAAAGCAAAGACGTGAGTGGGGGCCTCCTGACACAAGGCTGGCTGGTCTATCATCACTGGACCCTAGATCCAGACATCGCTGCTTCTGCAGCCCTGACGACGGTGTGCCTGCGTCCTGGACTCAGACGGCTCGGGCCTCATCTGTCCTGTCCTCTTCTCTCTTAGCTGGTGGGTGACACTTGGTTCCTGTCTTCACTGCTTAGGACATCTCACAGCTTCCCCATCTCTAAAATAATACCTGCCCAGCCTTCTGCCCTGGGTAGAGGCCAGGTTCTAGGGCATGGCATTGGTGTTGCAGATGTTAGCAATATTTGTAACGCAATAAGGGGAACTATAATTGTTTGCAGTTAGACTTCCAATAAAGCCTGTCTGAAGTCTGATGTTCAAAGTAACGATGTAATGTTTTCACCCTCAAATAATCACGAGACAGACATACCATAATCCTCCCTTATGAACAGGGAAACTGAGGCACGAGTCACAAAGCCCCTTAGAAGGGGAGCCTGGCCTCAGAACCAGGCAGTTGGGTAGAACCCTGCAACTGCTCTGCAGGACTGGTTTGGATTCTGTGGGCCCAGCACGGGGAACCCTGCCCTCCCCCTGCGGTCTCAGGGAGGCTCCGCACCCGCTTCGTCTGCTCCAGCTGCTCCGCCAGCTCCTCCACGGCCTGTGAGTGCTTCTGCCTCATCTCCTGGATCTGGGCCTCGTGGGTCTTGGCCTCCTCCTCCAGGGTCTTCTTCAGGATGTTCACCTCCTGCTCACGTTTTGACCTGGACAGAGAAATCCCCTCAGAGTGGAGGCCGGGGATGCTGGAGCGAGGCTGTCCCTGGGGCTCTTCCCTGACCAAAGAGAGGCCTGGCCAGGGCACAGGCACTCCAGGCAGCTTTTCTACCCACCGGCCCCTCCTAGCCATCTATCCCATAGCCCAGGCTCAAATACGCCCTGTGAGAGCTTCTGTAGCCTTTCAGCTTTAAAGCCCAGCCTTGCCTCACCCCCAACTTTGAGCCAGGTCCTTCAACAGACTTTCTACTCTGTAGAGAGAAACCGCTNNNNNNNNN
|
benign
| 326,365 |
Classify the chromosome 22 variant at position 36312004 affecting gene MYH9 (myosin heavy chain 9) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
benign
|
AATAGAGATAGGGGCTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACAGGGCTGTAATCTCAGCCCCTAGGGGGGCTGAGGCAGGAGGATCGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGTACTCTAGCCTGGGCAACAGAACAAGACTCCGTCTCAAAAAAAAAAAAAAAAGATAGAGATAGGGTCTCACTATGTTGCCCAAGCTGGTCTCAAACGTCTGGGCTCAAACTGTCTTCTTGCCTTGGCCTCCCCAAGTGTTGGGATTACAGGCATGAGCCCCTGTGCTCTGCTAAAATATATACTTAACAGAACAAGTAATACAGCATGACATCTTCATTGCAAAAGGTCCCAGAACAATACCCAGAGAGCATCAGGGACCTAGGCCTCCCTCTTCCCAACACAAACTGCAGCCCAGAGGTGCTCCCCTCAGTATGCAAGCGAATGCACGCTGCTGCATCCCAGGGGTGCTCCCCTCAGCATGCAGGCGAATGCATGTTGCTGTTTATCATGAGGTAGGTGATGCCAGTTTCCTTTCCCCAGGCTCAGACCCTCCCACCCAGGCCAACATCCTTGTCCTTTTAGCGGCCACAGCACAGCCCACGGAAAGACGCACCACAGTTGATGCCATCGTGCAGGCCCCTTGGTGGGCTTTAGGGTATTCCTAATTATTCAGCATTACAAATAATCCCACAGCAAAAGCCTTCCTGGAAGCTTCTGCACTGATGAGCGTGTGCGTTTCCCAAAGGTGAGAGTGGAGAAAGGAGGCTCGGGAAACATTCCTTGGTTAATGGTGTAAATCGCTTTTTTGGCTTTATTATTTTTTTCATGGGTAGTTTAAGACAGTTGCTTCCGCAGCCCCAGGAACCAGCCAAGCTAAATAGAAGAGGCCGGCACAGGTGTGCTAGAACCGGGCCTGGACTCCTTGTGGCTTGGGAACAGACCTGTGAAAGCTCCCACATCTCCTCGCCAGTCATCACCAACTAGTCACCACCAACAAGGAGATGGCGCAGCCCCTGCCTAATCACAGCAATTAACTGTTAGGGTCTTTGTGCAGGAAGCACACGATATGCTGAGAAAAACCAGCTTTTGTCTAAGCATGCACCTCTATGGACTAAGTTGGGTCTAAGCCCCAGTCACATGCAGACTGGGAAGATGTCTGCTAGGTAAGTGTTGAGGGCAGGTCCACCACTGACTGACTGTGGCAGACTTGGCAACAGCAGCTGTCACCCACAGCAGTGGCAATTCCCCGCACCTCCCCCCCCGAAACTAGGACATGTTTGGCGATGTCTGGAGACATTTTGGGTTGTCACAACTAAGGACGGTGCTCCTAACTCTAGTGGGTAGCAGCCAGGGATGCTGGTAAACATCCTAGCATGCACAGGAGGGTCCCACAACAAAGAATGACCCAGCCCGCAATACCAGGAATGCCGAGGTTGAGGAGCCCTGCCCCGGAGCACTGATTCATGCCACATGTTGGGCCTCAAGAGCTTGTTTAATCCACATAATCCTGTATGGTGGGTGGTCATTCTCATTTTCCAGATGAGGAAACCAAGGATCAGAGAGGTTAAGTAACTGACCCGAAGTCAAACAGCTTATGAGTGGCAGAGCTCTATTCAAACTCTGAGCACATGCCTTTAGCCAAAGCTCTGCACCTGGCAGACAGGCCCAACGATAATGCATGATGACAACCAGCCTGGGCACCGCGGTGGAGTGCCGCAGGCTTCTAACAGCATGGAGCAGGTGAAGGGGCTCTGTAAGCTGTGTAAATGATGATGCTGTCACCGGCCACATTACTGGGTGAGTCATTGTGCAAGAACCGTACTCAGGTCACACCCCTGCGTCCCCAGCAGCTGCCCGGCTCCTGGTCCTAGAGAGCCTCGACTCCACCTCTCCTGTGAAGATCTGGCCAGCACCTCCCCGTGAGCGCTCCTCACCTTGCCGGCATAGTGGATAATGCAGAAATCAGCTTTGTCCTTCAGCTGCTTGGGCTTCTGGAACTTGGGGTGGGTGCCCTGCTCCTGCATCACCTTCTCCACGAAGCTCTTGTCGGTGGCTTTGGGGAACCAGCACTCCTCGTCCAGCAGGGCCAGAATGCCCGGGGGGCCTGCCTGGAGGAAGCGCAGCATCAGCACAGGTGAGTGCACCCTGGGAGGGGCACCCCACCCTTCAAGAAGCCAAAGCCCGGACATCAGAATCCCCTGAATCCCACAGACGGTGGGCGACACACTCCCCAGGAGAAGCAAAGCACTGTTGAAGATTTCTAGCTTCTAAAGAAACCTCTGGGGCCCAGGCTGCGGCTGACACCTTTACCCAAGGATCCATCGCGGTGGTTCTCCAGCATTAGTGAAACCCTCAGTGGGTCTGATGAAAAGTGCACATCCGCTGACCCGCGGGGCCAGAGTCTGACTTCACAGTGCACTGGGGTCTGCCCAGGAGGCTGCCCTCAACAAGTACCCTGTGATCCTGCCACGGGAGATGCCAACCCACATGCTTTGCGTCTGCATGTCTATGATGAGATGGGATATGTAGGAGGAGCCCCTTGAGGAAGATAGTCCCAGGGACCCAGCAGCCTTCTGCACACTGAGTTTACAAGACAAGAAAGCAGGTTTGGACACTGCAGAGAGGCTGACAAAACTTGAAGCCCAGTGGGTTCCTATTAGTTGGAAAATTCAACTGATTAAAGAAAAAAGCTCATTACAAAAGTAAATTTTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTGGTGAAACTCCGTCTCTACTAATAATACAAAAATAAGCCTGTAATCCCAGCCACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAAACAGGGAGGCAAAGGTTGCAGTGAGCCGAGAGCACGCCATTGCACTCCAGCCTGGGCGACAAGAACAAAAATCTGTCTCAAAAAAAAAAAGGAAATTTTTTTCAAACTGAAAAAACTTTGTCCTAGGCCTTCTGATCAATTAACCATAATCAAAAGAAAACCCAGAGACAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCCGAGGAGGGCAAATCATGAGGTCAGGAGATTGAGACCACGGTGAAACTCCGCCTCCACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGAAGGCGGAGCTTGCAGTGAGCCAAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAGAAAACCCAGACACAGGAACAGCTCAGGCTTCATTACAGATCATACCCTCAACAAGCCTAAAACACAAACAGGCGACCCAACCTCTACCTGGCAAGAGGTTTAAGTATGAACTCATTGGAAAGGGTTCCTCTTTTCCATCTTCACACAGCTAATGCTGGCGATAAAAGCACTGCTGCTTGCTGGTTTTATGGGGGGGATGAGCTGAGCTTTGGTACGTGTACACCTGGGCAGAGCACTCAATGCCCAGGGTCTGCACTGTTCCATGCTACAGTGAAAGCAGCCCGCGATAGGGCCTTACTACATCCATGCATGGCTGTTTCTTTAAGACAAAGAAATGCTTATCGAGCCCAGCCTTCAGGAGGATGCTGGGTGGTCTTCTGGGACTGAAAACAGGATGCTAGGGCCCCCGCCACATATGCACCTGGTCCGGCAGCTGGGAAAAGCCCAGCCCACAGCTGCAGCCCAGAGCATCTCCTCTAATGGAGGCACCCACCCAGGCCTCCCAGGCACTGGATCTCAGCCTTGGGGCTTCATCCTCCGGGTGGCACCAAAAGGAAGGGGAGTTAAGACACC
|
AATAGAGATAGGGGCTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACAGGGCTGTAATCTCAGCCCCTAGGGGGGCTGAGGCAGGAGGATCGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGTACTCTAGCCTGGGCAACAGAACAAGACTCCGTCTCAAAAAAAAAAAAAAAAGATAGAGATAGGGTCTCACTATGTTGCCCAAGCTGGTCTCAAACGTCTGGGCTCAAACTGTCTTCTTGCCTTGGCCTCCCCAAGTGTTGGGATTACAGGCATGAGCCCCTGTGCTCTGCTAAAATATATACTTAACAGAACAAGTAATACAGCATGACATCTTCATTGCAAAAGGTCCCAGAACAATACCCAGAGAGCATCAGGGACCTAGGCCTCCCTCTTCCCAACACAAACTGCAGCCCAGAGGTGCTCCCCTCAGTATGCAAGCGAATGCACGCTGCTGCATCCCAGGGGTGCTCCCCTCAGCATGCAGGCGAATGCATGTTGCTGTTTATCATGAGGTAGGTGATGCCAGTTTCCTTTCCCCAGGCTCAGACCCTCCCACCCAGGCCAACATCCTTGTCCTTTTAGCGGCCACAGCACAGCCCACGGAAAGACGCACCACAGTTGATGCCATCGTGCAGGCCCCTTGGTGGGCTTTAGGGTATTCCTAATTATTCAGCATTACAAATAATCCCACAGCAAAAGCCTTCCTGGAAGCTTCTGCACTGATGAGCGTGTGCGTTTCCCAAAGGTGAGAGTGGAGAAAGGAGGCTCGGGAAACATTCCTTGGTTAATGGTGTAAATCGCTTTTTTGGCTTTATTATTTTTTTCATGGGTAGTTTAAGACAGTTGCTTCCGCAGCCCCAGGAACCAGCCAAGCTAAATAGAAGAGGCCGGCACAGGTGTGCTAGAACCGGGCCTGGACTCCTTGTGGCTTGGGAACAGACCTGTGAAAGCTCCCACATCTCCTCGCCAGTCATCACCAACTAGTCACCACCAACAAGGAGATGGCGCAGCCCCTGCCTAATCACAGCAATTAACTGTTAGGGTCTTTGTGCAGGAAGCACACGATATGCTGAGAAAAACCAGCTTTTGTCTAAGCATGCACCTCTATGGACTAAGTTGGGTCTAAGCCCCAGTCACATGCAGACTGGGAAGATGTCTGCTAGGTAAGTGTTGAGGGCAGGTCCACCACTGACTGACTGTGGCAGACTTGGCAACAGCAGCTGTCACCCACAGCAGTGGCAATTCCCCGCACCTCCCCCCCCGAAACTAGGACATGTTTGGCGATGTCTGGAGACATTTTGGGTTGTCACAACTAAGGACGGTGCTCCTAACTCTAGTGGGTAGCAGCCAGGGATGCTGGTAAACATCCTAGCATGCACAGGAGGGTCCCACAACAAAGAATGACCCAGCCCGCAATACCAGGAATGCCGAGGTTGAGGAGCCCTGCCCCGGAGCACTGATTCATGCCACATGTTGGGCCTCAAGAGCTTGTTTAATCCACATAATCCTGTATGGTGGGTGGTCATTCTCATTTTCCAGATGAGGAAACCAAGGATCAGAGAGGTTAAGTAACTGACCCGAAGTCAAACAGCTTATGAGTGGCAGAGCTCTATTCAAACTCTGAGCACATGCCTTTAGCCAAAGCTCTGCACCTGGCAGACAGGCCCAACGATAATGCATGATGACAACCAGCCTGGGCACCGCGGTGGAGTGCCGCAGGCTTCTAACAGCATGGAGCAGGTGAAGGGGCTCTGTAAGCTGTGTAAATGATGATGCTGTCACCGGCCACATTACTGGGTGAGTCATTGTGCAAGAACCGTACTCAGGTCACACCCCTGCGTCCCCAGCAGCTGCCCGGCTCCTGGTCCTAGAGAGCCTCGACTCCACCTCAGATCTGGCCAGCACCTCCCCGTGAGCGCTCCTCACCTTGCCGGCATAGTGGATAATGCAGAAATCAGCTTTGTCCTTCAGCTGCTTGGGCTTCTGGAACTTGGGGTGGGTGCCCTGCTCCTGCATCACCTTCTCCACGAAGCTCTTGTCGGTGGCTTTGGGGAACCAGCACTCCTCGTCCAGCAGGGCCAGAATGCCCGGGGGGCCTGCCTGGAGGAAGCGCAGCATCAGCACAGGTGAGTGCACCCTGGGAGGGGCACCCCACCCTTCAAGAAGCCAAAGCCCGGACATCAGAATCCCCTGAATCCCACAGACGGTGGGCGACACACTCCCCAGGAGAAGCAAAGCACTGTTGAAGATTTCTAGCTTCTAAAGAAACCTCTGGGGCCCAGGCTGCGGCTGACACCTTTACCCAAGGATCCATCGCGGTGGTTCTCCAGCATTAGTGAAACCCTCAGTGGGTCTGATGAAAAGTGCACATCCGCTGACCCGCGGGGCCAGAGTCTGACTTCACAGTGCACTGGGGTCTGCCCAGGAGGCTGCCCTCAACAAGTACCCTGTGATCCTGCCACGGGAGATGCCAACCCACATGCTTTGCGTCTGCATGTCTATGATGAGATGGGATATGTAGGAGGAGCCCCTTGAGGAAGATAGTCCCAGGGACCCAGCAGCCTTCTGCACACTGAGTTTACAAGACAAGAAAGCAGGTTTGGACACTGCAGAGAGGCTGACAAAACTTGAAGCCCAGTGGGTTCCTATTAGTTGGAAAATTCAACTGATTAAAGAAAAAAGCTCATTACAAAAGTAAATTTTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTGGTGAAACTCCGTCTCTACTAATAATACAAAAATAAGCCTGTAATCCCAGCCACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAAACAGGGAGGCAAAGGTTGCAGTGAGCCGAGAGCACGCCATTGCACTCCAGCCTGGGCGACAAGAACAAAAATCTGTCTCAAAAAAAAAAAGGAAATTTTTTTCAAACTGAAAAAACTTTGTCCTAGGCCTTCTGATCAATTAACCATAATCAAAAGAAAACCCAGAGACAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCCGAGGAGGGCAAATCATGAGGTCAGGAGATTGAGACCACGGTGAAACTCCGCCTCCACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGAAGGCGGAGCTTGCAGTGAGCCAAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAGAAAACCCAGACACAGGAACAGCTCAGGCTTCATTACAGATCATACCCTCAACAAGCCTAAAACACAAACAGGCGACCCAACCTCTACCTGGCAAGAGGTTTAAGTATGAACTCATTGGAAAGGGTTCCTCTTTTCCATCTTCACACAGCTAATGCTGGCGATAAAAGCACTGCTGCTTGCTGGTTTTATGGGGGGGATGAGCTGAGCTTTGGTACGTGTACACCTGGGCAGAGCACTCAATGCCCAGGGTCTGCACTGTTCCATGCTACAGTGAAAGCAGCCCGCGATAGGGCCTTACTACATCCATGCATGGCTGTTTCTTTAAGACAAAGAAATGCTTATCGAGCCCAGCCTTCAGGAGGATGCTGGGTGGTCTTCTGGGACTGAAAACAGGATGCTAGGGCCCCCGCCACATATGCACCTGGTCCGGCAGCTGGGAAAAGCCCAGCCCACAGCTGCAGCCCAGAGCATCTCCTCTAATGGAGGCACCCACCCAGGCCTCCCAGGCACTGGATCTCAGCCTTGGGGCTTCATCCTCCGGGTGGCACCAAAAGGAAGGGGAGTTAAGACACCNNNNNNNN
|
benign
| 326,452 |
Benign or pathogenic: chromosome 22, position 36320157, gene MYH9 (myosin heavy chain 9) variant? Disease(s) if pathogenic?
|
benign
|
CACGGACACCCCAGGATGGCCCACAACAGCCTCAACTGTGCTGCTGCAGGGACATTCACCCAGGAGGCAGCCAGCTGCCCTGGCCCCAGAGGACATACCTGCTCTTTAGTCTGCGCCTTCTGGACGTAATCCCGTCCCACCTTGATGCGCGGGGTGAGGATTCCTCTGGTGAAATCGGTCACATTGATACCCAAGAGATGGGACACCTTTTGGGCAGCTAAGATTTTTCAGAGAATAAGAGAGGGACAAAAAGTCCTAATTAGACCCAAGAGAGAAAGTTCTAATTAGACCCAAGAGAATAAGTCCCTCTGCTTGACTTGGGAGCAGAGAGGAAGAAAGCCACGGGGTGAATGAGCAATCATTACCAGGACAACCGCATCTGGGCCCTTCTTTAGCAGGGCCACAGACACCTAGCACCCCCCAGACTCAGCAGCCACATACAGGTCAGTGGGCAGGGCAGCTGTACCTCCCCTGAGCCCCACGGGGCAGAGAGGAAGGCGTCCTGGCTGGAGGCCACAGCGGCAGCAGTGGTTCCTCTGTCCACTCTCAGCCGCACTCCTCAGAGTGTAAAAGCAGGTCCCTACCCACCAATGGGGCTGAGAGGAGCAGGCCAACCTGGTGCTGGGGCACGGAACAGCACAGGATCCCACAGGAATGTCTTTTTTTTTTTTTGAGACGGCGTCTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATTTCGGCTCACTGCAACCCCTACCTCCTGGCTTCAAGCAATTCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGCGCACGCCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACAATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAACTGCTGGGATTACAGATGTGAGCCACCACGCCCGGTCAGGAGTGTCTTTTACAATCCACACACCCATGCGTTACATCTTTAGAGAGACCCTAAGGAGGGCACATTAAGACTGAATAACTTGCATGGGGTCATTTGCAGCAACCCTAACAAAGGGGCTGAATCGGGTGTGGCAAGGACATAATTTCAAGATCTCGACATAGTCACAGGCAAGGCTCCCATTAAGGAGGAGCTACGGCAGAAATCATTGGTGTCCTGACGAATGGTTTGGTCTCAGGAATGAATAAGGGAAGCCCTGGTCCACATGATCACAAGTTTAAGTTATTCTGAAATGCTTACTTGGTGAGAAAAAAAAGCAGGGTCATGTTTACGTGTGTTTTACATCTGTATAGAAAATACCGACAGATACTAACATTAAAAAGAATAGTGTCCGGAATTTCCGCAAGACCTTCCCTCCTGAGCAAATCCATGGCCAAGCACCTGCCCCATTATTTCCAGCGAGAGGCCCCGGGTGTTACCTGTGTTGTCGGGCATGGACGCCTGGTCAGTGTTCCGCTCCTTCTTGAAGACGATGTTGCCGAGCTGAAGAACCCCTGAGATGACCCGCAGCAGGCCTTTGGGTGCAATCAGAGGCAGCTCAGAAGCAGACATGGGTCATGGTGATTCCCGGGGGTGGGGGCCACTCATCTAGGGATCCTCAAGCCAGACAAGCCAAGCAGGGACACCCCCCAACTCCCTGGGGCCACAGGGGCGCCAGGTCTGCGTCTAACGGTGTGCGGTGGGCCCAGCCACCCTAGAGGGCTCACCCCCTCCTGGCCGACATGGCCTGTCCGCACTGCCATTCATGCTGGGCTTCACCAGCACAAAGCACCCATCTATCCCCAGCTTCTTCCACACTCCCCGAGACAGGACGTGAATATTCTACTTTCAGCAAATGGCAAGGGCTGTGCAGTGGACCCGAGTCCTGGGCAGTTAAGAACATGTCCTTTGCACCCTTTCTGAATGCCTGTGGTACCACCAGGAACAAATAACCTTGAACCTCAAATCTGAGGAATCATTTTCCCATACACTGAAGGCCTTCCCCTTCCCCTGGCCTCTAGCAGGCTCCCCAGGCCCATCGGCTACCCTGATGCCCCGAGGCCGTGGGTACCAGCCTTCCTCTGCCCCACACTCGACCATAGGAGGGCCAGCCCTGTACCCATTTGCTCCTCTTCTGGGATGCCCATAATCCTCATGGCCTCCATGGTCTCCTGGAACATGTCCTTGTCCTGCTGCCCGGGGATGGTGACGTGTCCATTGGACAGGAAGCGGTATTTGTTGTACGGCTCCAACAGGAGATCGGCTGTAAGGGGTGGAGGGCAAGGGCGCCTCAGCGAGGTGCTGAAAGTGGAGGCTCCATCAGCGCTGTGACCTCAAAGGTTGGAGAGACTGGGACAGACCCTGAGCCCTGACGCACCCTGGAAACCGCAGAGTAGCCAGTGACGTTCAGCTTTCCTCAGTGTCTGAGACTCTGACACTCCCGTCTCCTGGCCCAGGAGAGCGCCAGGTCCTGTGATTTGCAGCTACATGTGCAACCCACCCTAGCTTTTCTCTGGCATGGTCAGAAACAGAAGACCAAGTCCTTAGGATGGCGCAGAGAACAGGAGTCACTCTCACTTCTCCCCGTTAAACCCAAGGCCAAAAGTTTTCATTTCCCAAATGATGTCTACGGTCCAATTCTGGCAAGAGGCCCAGAGCCCGGCAGCCCCGGTGTCAGGCTGCAGGCCAACTACTCACTCTTCAGGTGCTCTCCAGCCCCAGACAGGAGATAATAGAAGATGTGGAAGGTCCGTTCTTCCTTGGCTTGGCGGATAGCACGAGATTTCTCCAAAAGATCTTTGCAAATATTAAGGAGCAACACAAGCTGGGGAGAAGGCAAGCCCTCCACTTTCCTCATTTTTTTTTTTTTGGAGACAGAGTCTCGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAGCCTCCACCTCCTGGATTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACCCAGCTAATTTTTAGTAGAGACAGAGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCAGCCTTCCATTGTCCTCTTATTCTCGTCCAAAGGAACTGAACTTCACCAGGAAGGAAGAATGGCACAAAATGGCAAAACACAGCAAAAGCAAACTACCTGGGTTCTCACCTTCAAGGGGCATGGCATGTCCAAGAGGAGCTCACACCTTCGAGAGCCTTGTCTCATTCTTACAGGTAATGGGAACAAGAACATTCCCACAAGCAAAGGCTAAACGGTGGCACGCAGGAGAGTGGCATCCCCCAAACGCCTACCTCTGGGAGCCACACTAGACGGCTTTCAACAGCTCCATGCCATTCAAAGCACAGGTTATCCTGCCTGTAAATAAGGAAAGCCCTAAGCTCTGTGTTGGGTTTGCACTAGCCGATCCTGACAGTCCCCTAGCTCCACAGAGAAGGTGTCAGGATGGGCCCATAAAGGGGAAAGTGCTGGAATCAGGAGGCAGCTTCTTCTCTACAGAGGTCATGCCTCCCCTCCGGATCCAGGACTCTTATCCCAACGAACCACAAGGATACAAGTCTCAATGTTGGCTCCAACAATGTAGCCATTGACATCAAAGTTGATGCGAATGAATTTGCCCTAAGTAAGAAAGGATAGCAAGAGATCAGAGGTGCCCCTGACATGGGGAGCTAGAGAGCACGGGGGAGACCACAGCCCCCCGCCCCACCTCCGGTGGGCACAGCTTGGAGGGAGAAAACCCAGAGACGGGACCCATGTACCAGGCCAGGGGCCCCCTACGCCCACACCACACGGGACCTCGGGACTCAGGCGCCACACTGCCTAAGGCCATGAGCCTGAGACAAGCTGATCCCACACCCAGGTTCCTCCGCAGAGGGGGAAAGAGACCAGTTATGTGGAAGTGTTCCTCTCTGCCTGACCCGGGAACTAACTGGCTACTGGTGACAGCTGAGCACTCTGGGGCACAGCAGGCAGCGCCCTCACTGGCCTTTCCACCTCTCATG
|
CACGGACACCCCAGGATGGCCCACAACAGCCTCAACTGTGCTGCTGCAGGGACATTCACCCAGGAGGCAGCCAGCTGCCCTGGCCCCAGAGGACATACCTGCTCTTTAGTCTGCGCCTTCTGGACGTAATCCCGTCCCACCTTGATGCGCGGGGTGAGGATTCCTCTGGTGAAATCGGTCACATTGATACCCAAGAGATGGGACACCTTTTGGGCAGCTAAGATTTTTCAGAGAATAAGAGAGGGACAAAAAGTCCTAATTAGACCCAAGAGAGAAAGTTCTAATTAGACCCAAGAGAATAAGTCCCTCTGCTTGACTTGGGAGCAGAGAGGAAGAAAGCCACGGGGTGAATGAGCAATCATTACCAGGACAACCGCATCTGGGCCCTTCTTTAGCAGGGCCACAGACACCTAGCACCCCCCAGACTCAGCAGCCACATACAGGTCAGTGGGCAGGGCAGCTGTACCTCCCCTGAGCCCCACGGGGCAGAGAGGAAGGCGTCCTGGCTGGAGGCCACAGCGGCAGCAGTGGTTCCTCTGTCCACTCTCAGCCGCACTCCTCAGAGTGTAAAAGCAGGTCCCTACCCACCAATGGGGCTGAGAGGAGCAGGCCAACCTGGTGCTGGGGCACGGAACAGCACAGGATCCCACAGGAATGTCTTTTTTTTTTTTTGAGACGGCGTCTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATTTCGGCTCACTGCAACCCCTACCTCCTGGCTTCAAGCAATTCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTACAGGCGCACGCCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACAATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAACTGCTGGGATTACAGATGTGAGCCACCACGCCCGGTCAGGAGTGTCTTTTACAATCCACACACCCATGCGTTACATCTTTAGAGAGACCCTAAGGAGGGCACATTAAGACTGAATAACTTGCATGGGGTCATTTGCAGCAACCCTAACAAAGGGGCTGAATCGGGTGTGGCAAGGACATAATTTCAAGATCTCGACATAGTCACAGGCAAGGCTCCCATTAAGGAGGAGCTACGGCAGAAATCATTGGTGTCCTGACGAATGGTTTGGTCTCAGGAATGAATAAGGGAAGCCCTGGTCCACATGATCACAAGTTTAAGTTATTCTGAAATGCTTACTTGGTGAGAAAAAAAAGCAGGGTCATGTTTACGTGTGTTTTACATCTGTATAGAAAATACCGACAGATACTAACATTAAAAAGAATAGTGTCCGGAATTTCCGCAAGACCTTCCCTCCTGAGCAAATCCATGGCCAAGCACCTGCCCCATTATTTCCAGCGAGAGGCCCCGGGTGTTACCTGTGTTGTCGGGCATGGACGCCTGGTCAGTGTTCCGCTCCTTCTTGAAGACGATGTTGCCGAGCTGAAGAACCCCTGAGATGACCCGCAGCAGGCCTTTGGGTGCAATCAGAGGCAGCTCAGAAGCAGACATGGGTCATGGTGATTCCCGGGGGTGGGGGCCACTCATCTAGGGATCCTCAAGCCAGACAAGCCAAGCAGGGACACCCCCCAACTCCCTGGGGCCACAGGGGCGCCAGGTCTGCGTCTAACGGTGTGCGGTGGGCCCAGCCACCCTAGAGGGCTCACCCCCTCCTGGCCGACATGGCCTGTCCGCACTGCCATTCATGCTGGGCTTCACCAGCACAAAGCACCCATCTATCCCCAGCTTCTTCCACACTCCCCGAGACAGGACGTGAATATTCTACTTTCAGCAAATGGCAAGGGCTGTGCAGTGGACCCGAGTCCTGGGCAGTTAAGAACATGTCCTTTGCACCCTTTCTGAATGCCTGTGGTACCACCAGGAACAAATAACCTTGAACCTCAAATCTGAGGAATCATTTTCCCATACACTGAAGGCCTTCCCCTTCCCCTGGCCTCTAGCAGGCTCCCCAGGCCCATCGGCTACCCTGATGCCCCTGAGGCCGTGGGTACCAGCCTTCCTCTGCCCCACACTCGACCATAGGAGGGCCAGCCCTGTACCCATTTGCTCCTCTTCTGGGATGCCCATAATCCTCATGGCCTCCATGGTCTCCTGGAACATGTCCTTGTCCTGCTGCCCGGGGATGGTGACGTGTCCATTGGACAGGAAGCGGTATTTGTTGTACGGCTCCAACAGGAGATCGGCTGTAAGGGGTGGAGGGCAAGGGCGCCTCAGCGAGGTGCTGAAAGTGGAGGCTCCATCAGCGCTGTGACCTCAAAGGTTGGAGAGACTGGGACAGACCCTGAGCCCTGACGCACCCTGGAAACCGCAGAGTAGCCAGTGACGTTCAGCTTTCCTCAGTGTCTGAGACTCTGACACTCCCGTCTCCTGGCCCAGGAGAGCGCCAGGTCCTGTGATTTGCAGCTACATGTGCAACCCACCCTAGCTTTTCTCTGGCATGGTCAGAAACAGAAGACCAAGTCCTTAGGATGGCGCAGAGAACAGGAGTCACTCTCACTTCTCCCCGTTAAACCCAAGGCCAAAAGTTTTCATTTCCCAAATGATGTCTACGGTCCAATTCTGGCAAGAGGCCCAGAGCCCGGCAGCCCCGGTGTCAGGCTGCAGGCCAACTACTCACTCTTCAGGTGCTCTCCAGCCCCAGACAGGAGATAATAGAAGATGTGGAAGGTCCGTTCTTCCTTGGCTTGGCGGATAGCACGAGATTTCTCCAAAAGATCTTTGCAAATATTAAGGAGCAACACAAGCTGGGGAGAAGGCAAGCCCTCCACTTTCCTCATTTTTTTTTTTTTGGAGACAGAGTCTCGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAGCCTCCACCTCCTGGATTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACCCAGCTAATTTTTAGTAGAGACAGAGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTAGCTTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCAGCCTTCCATTGTCCTCTTATTCTCGTCCAAAGGAACTGAACTTCACCAGGAAGGAAGAATGGCACAAAATGGCAAAACACAGCAAAAGCAAACTACCTGGGTTCTCACCTTCAAGGGGCATGGCATGTCCAAGAGGAGCTCACACCTTCGAGAGCCTTGTCTCATTCTTACAGGTAATGGGAACAAGAACATTCCCACAAGCAAAGGCTAAACGGTGGCACGCAGGAGAGTGGCATCCCCCAAACGCCTACCTCTGGGAGCCACACTAGACGGCTTTCAACAGCTCCATGCCATTCAAAGCACAGGTTATCCTGCCTGTAAATAAGGAAAGCCCTAAGCTCTGTGTTGGGTTTGCACTAGCCGATCCTGACAGTCCCCTAGCTCCACAGAGAAGGTGTCAGGATGGGCCCATAAAGGGGAAAGTGCTGGAATCAGGAGGCAGCTTCTTCTCTACAGAGGTCATGCCTCCCCTCCGGATCCAGGACTCTTATCCCAACGAACCACAAGGATACAAGTCTCAATGTTGGCTCCAACAATGTAGCCATTGACATCAAAGTTGATGCGAATGAATTTGCCCTAAGTAAGAAAGGATAGCAAGAGATCAGAGGTGCCCCTGACATGGGGAGCTAGAGAGCACGGGGGAGACCACAGCCCCCCGCCCCACCTCCGGTGGGCACAGCTTGGAGGGAGAAAACCCAGAGACGGGACCCATGTACCAGGCCAGGGGCCCCCTACGCCCACACCACACGGGACCTCGGGACTCAGGCGCCACACTGCCTAAGGCCATGAGCCTGAGACAAGCTGATCCCACACCCAGGTTCCTCCGCAGAGGGGGAAAGAGACCAGTTATGTGGAAGTGTTCCTCTCTGCCTGACCCGGGAACTAACTGGCTACTGGTGACAGCTGAGCACTCTGGGGCACAGCAGGCAGCGCCCTCACTGGCCTTTCCACCTCTCAT
|
benign
| 326,491 |
Does the chromosome 22 mutation at position 36864180 within gene NCF4 classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
benign
|
GACGCAAAGCCTGGCCCCTGCACCCCCTGGATTGGAACAGCAGGTGACCTCTGTTACCTACGTGGAGGCCACTCAGGGGGTCACCAGAGACAGGCCAGGCTGGTGTGTGCCTACGCGGGGAACAGAAGGCCCATGTTGGGGCCTGGGGCTGGAAGTAGAACCTGAAGCGTGGGTTGGGGCAAGGGCAGCAGAAGCAAATGCCTACAGGGGAGTCCACGTGGCCTTCCTGAGCCTCAGAGCGGGGTGCAGGAGCTGGGTAAGGCTGGCCGACCTGAATTCCTTCCTCCCCTCACATGCTCCTGGGGGACCCAGCCGCACGCAAACTCGAATCTTCCGGAAGCAGCAGCTGTTTGAGGCTTGGGCACTTCCTGCTTTCTGGGGTACAGGGTTCAGGGGATGACACGGAGAGCTGACCAGCAGGACTGTGCACTCCCTCCCCCACTCCCTGTCCCCTTTCAGCTGCCTTAGCCCTCAGAGGGGGAGGGACTGCTTTTCATGAGGCCTTGAGCCAGGTACTAGGGGCATGGGGGCTCCCTGTACCTCGAAGGTCTTATCTGAAAGCGAGCCTGGATTGTTCTGCTTAAGGTCAAAGCAGAGAGTACAAGGAGAGGGCGCAGGTTCGCGCAGCGGGGACTTTCTAGAACCCCAAGGTGAGACATCCAAAGATGGGGAGGGCTGCCTTAGGGGTGGCAAGTTCGGTTCCAACAGACATGTTTTGAGCACCTACTATGTGCCAGGTGCCAGAAAACCTGCCCTGGCTGCCCTCCAAGGGTTCTTCCAACCTCGGCCTCCCCCAGGGCAGGCTCCAAAACCTCCCCCAGGCCAGGCTCCAAAGTCTGTGAACTGTGCGAGTGTGTCTTGAGCCAGAACATCCCGGCCCAGTAGGGCCTGGGTGAGGTCCCCAAGGGAGCGGATATTCCAGGGGACTTCCGGTTGGGTTTGCTGCTCTTCTTGCCCGCCCCACAGGCAGCCAGGCCATTCTCATGCTGCCCATCAAAAAACTCTATAATTGCAGACGACGGTAGTGGCCGTGTATTGAGCAGTACTGAGCACCTACTGTATGCCGGGCTCTGTTCTGGGCACTGGGATGTAGGGTGAGCAGAGTCCTTGCCCTCATGGAGATTTTAGGGCTGTGTTTGTTACAGATGGGACTGCATGACCACCCGGAGACATAAGTACTTCTCCTGTCCCCATTTTACAGAGGAGGGAAGGAGCGGAGCACAGCTAGGAATCTTCCCAAGGGAGCTTGATCTTCTTGTCCCCAGTGCTGCGCCTATGCCTCGAGCATCTGCCAATGTCTGTCCTGCTTGACTCCTTCCTCAGCCCCCACCACCCCAGGGAAAACTCGAGGTCCCTCTGCGAGGCATCAAGGCACCTCGTGAGCGGGCCCTGCCTGTCTCTCCGACTGGTCTCTCATCACGTTCCACCTCCTGCTCTGTGCTCCAGCCATGCTCAGCAACCTGCGGTTCCCTGAACTGAGCAGCTCCATCCAGGGCACATGTTGACTTTGTTTACATCTGTGACCCAGGGCCTAGGACAGGGCCTGGTATGGAGATGTTTGATGCCTTATTCCCAGGTGAATCTGTGCAATTGACAGCAATGTGTTAGACTATAATTTGGCTATTGCTATATGGTCACCAGCTTCCCATTCCTACACTCAATATGGCCACCAGCTTCCCATTCCTGCACTCAGTATGGCCGCCAGCTTCCCATTCCTGCACTCAAGGCCTGGGCTGTGTCTTGTTATCTCCGTATTCCCAGGGTCAGTGGCTGGACCTGGCCTGGGAAGGGGTGCTGAGAGACGAATGTTGGCTTCACAACATTAGTTTGCTTTGCACTCTACCTCATACCCGGTGGGCCCACAAAACACATCAGGGTGATAAGCAGGATCTCTTTTCCCCTCCTTCGCACAGTGACTTTGAACAGCTTCCGGATGATGTTGCCATCTCGGCCAACATTGCTGACATCGAGGAGAAGAGAGGCTTCACCAGCCACTTTGTAAGACAGACTCCTAGTCCTTCACCCAACAACCTCTGAACTTCCACCCAGCTGACCTCTGAACCTTGCCCTCTGACCTCTGAACCTCCAATTCTCTGATCTCTTAACTTCTATCTCAGTGGTTCTCAACAGGACCGATTTTGCCCATTTGACATTACCCTGGGAGATTCTGATTATTGCATCTTGGGGCAGGTCTACTCCACATCTAGTGGGTAGAATCCAGGGTGCTGCTAAACACCCCACTGTGCACATGACAGCCCTGTCCCCAGTAAAGAACTGTCCGGCCCCAGCATAATACTAAGATTGAGAAATCCTGATCGCGTCCTTTGACCTCAGAACCTCCACCTGGAGAGTCGGGGGTGAGGGACTTTAGTGTTGCCCCCACAACACCCCTGTCATATTCAGACACAGATGGAGGGGGCATCCTGCACCCACAGCACAGCCAGGGGCAGGTTCACTCTGCACCATGACCTCCAAGGCATGGCTCCTCATTTCTTGGGCCTGAATGTGTGTTTGGCCTATTTCCAAGGGCTCTTGCCTCTAACACTAGGTCTCACTTCCTCTCTTTTTCCAGTTTTTTTTTTCTTTTCTTTTCTTTTTTTTTCGCAAAGCTCGTCTGCTTCTGGGGCGCCAGCCTTTTGACTTGACAGGGGTCTCCTTCTCCAGAGACCCTTCTGCATCCTTATCCTCATCATCTTCCTCCTCCTCCTCCTCCCCTTTTCCCTTCCACCTCTTTTTGGCTTGTGCTCCTGGCCCCTGAGCCCTCCCCACAACCTCTGTCCTCCTTAGGTTTTCGTCATCGAGGTGAAGACAAAAGGAGGATCCAAGTACCTCATCTACCGCCGCTACCGCCAGTTCCATGCTTTGCAGAGCAAGCTGGAGGAGCGCTTCGGGCCAGACAGCAAGAGCAGTGCCCTGGCCTGTACCCTGCCCACACTCCCAGGTAGGCGGCCACTCCCGTCCTGCTGCTGCAGAGCTGCTGACTCTCCTTCCTTCCAGGGCCCCTGACACTGTTCTGTGATTTGATCTCAACCCCAGTGAAAACTGTTCATGTAGTTTATAGCCCCCACTCCCGGCAGTTACAGGCTGCCAAGCCCTCCCTGCATGGCTCCCCCTGCCTCACGCCATGGCTTCCACCCCAAGCACTCTAGCCTCACAGCCCCGGAGCTCTGATGACCATCGTGGCCACTCGCTCCTGCTGTCCACTACCAGGAGGCCACAGTCTGGAGCACTTCAGCACCTGGCCTCCCTTCCTCAGAGACAGGAATCCCCCAGTCTGGTCCCTAAACACACTGACTCACCTCCCTGCCCACCCTCAGCTTCCTCCCACGAGACCAGCCCTCTGACTTCATGGTCTTGGCTTCCAGCGTCCCTGTGGCTCTCCTTCTTCTCCTGTCCCGCCAGGAAGCTGGGTGGCCTCAAGCCTCTGCTTGCAAACAGTCTCCCCGCCCCCTGGCCTCCTGGTCCTTCCTCCCCAGCTGGATCCTAACGCGCACCTTGGACAGCGCCAAGCCCTTAGCTGCTCAGCACCTGCCCCGCAGGAGGAAACCCCATCACGAATGGGTTACACGGGGGTGGTCTCAGCGGCGCCCTTCGTGCCCTGCAAGTTAGAGACAGGGACAATTGTCTCCCTTCCCCAAGCCTCAGGGACCCTTCCCCAAGCTCCAACCCCATCTCCAGTTTGTTTTTTCTGTCTCTGTTTCTGTCTCTCTCTGTCTCAGCATATGACCCCGCTCCTTCTCATCCAGCCCCACCAAGGAACTTGAAGCTCCCCCTAGGAGTCTTGCCTACTCTAAGCCAGCCTCCCCTCTCAGGCTCCATCATTTTCCCTCCTCTCTCTTTTGGGGCTCTCTCCTGACAATCTACCCCTCCTTTTCCTTGTATATTCATCTTCCTCTTGATATACCAACTCCCTCTGCTAAGCGTCTCCACAGCCTCAACCCTCTTCTGTCTTTAAACAATCCTGAGCCATGAAACAGCATTCTTACAAGCCTCCCTGAGCCTCCGTGCCCCCAGGGCCCCCAAAGTTCTCTTTCTTCTTCCTTTGGCATCAAATTCACGCACTGTCTCACCTTGGCATGGCCATCCTCTCCTTAAC
|
GACGCAAAGCCTGGCCCCTGCACCCCCTGGATTGGAACAGCAGGTGACCTCTGTTACCTACGTGGAGGCCACTCAGGGGGTCACCAGAGACAGGCCAGGCTGGTGTGTGCCTACGCGGGGAACAGAAGGCCCATGTTGGGGCCTGGGGCTGGAAGTAGAACCTGAAGCGTGGGTTGGGGCAAGGGCAGCAGAAGCAAATGCCTACAGGGGAGTCCACGTGGCCTTCCTGAGCCTCAGAGCGGGGTGCAGGAGCTGGGTAAGGCTGGCCGACCTGAATTCCTTCCTCCCCTCACATGCTCCTGGGGGACCCAGCCGCACGCAAACTCGAATCTTCCGGAAGCAGCAGCTGTTTGAGGCTTGGGCACTTCCTGCTTTCTGGGGTACAGGGTTCAGGGGATGACACGGAGAGCTGACCAGCAGGACTGTGCACTCCCTCCCCCACTCCCTGTCCCCTTTCAGCTGCCTTAGCCCTCAGAGGGGGAGGGACTGCTTTTCATGAGGCCTTGAGCCAGGTACTAGGGGCATGGGGGCTCCCTGTACCTCGAAGGTCTTATCTGAAAGCGAGCCTGGATTGTTCTGCTTAAGGTCAAAGCAGAGAGTACAAGGAGAGGGCGCAGGTTCGCGCAGCGGGGACTTTCTAGAACCCCAAGGTGAGACATCCAAAGATGGGGAGGGCTGCCTTAGGGGTGGCAAGTTCGGTTCCAACAGACATGTTTTGAGCACCTACTATGTGCCAGGTGCCAGAAAACCTGCCCTGGCTGCCCTCCAAGGGTTCTTCCAACCTCGGCCTCCCCCAGGGCAGGCTCCAAAACCTCCCCCAGGCCAGGCTCCAAAGTCTGTGAACTGTGCGAGTGTGTCTTGAGCCAGAACATCCCGGCCCAGTAGGGCCTGGGTGAGGTCCCCAAGGGAGCGGATATTCCAGGGGACTTCCGGTTGGGTTTGCTGCTCTTCTTGCCCGCCCCACAGGCAGCCAGGCCATTCTCATGCTGCCCATCAAAAAACTCTATAATTGCAGACGACGGTAGTGGCCGTGTATTGAGCAGTACTGAGCACCTACTGTATGCCGGGCTCTGTTCTGGGCACTGGGATGTAGGGTGAGCAGAGTCCTTGCCCTCATGGAGATTTTAGGGCTGTGTTTGTTACAGATGGGACTGCATGACCACCCGGAGACATAAGTACTTCTCCTGTCCCCATTTTACAGAGGAGGGAAGGAGCGGAGCACAGCTAGGAATCTTCCCAAGGGAGCTTGATCTTCTTGTCCCCAGTGCTGCGCCTATGCCTCGAGCATCTGCCAATGTCTGTCCTGCTTGACTCCTTCCTCAGCCCCCACCACCCCAGGGAAAACTCGAGGTCCCTCTGCGAGGCATCAAGGCACCTCGTGAGCGGGCCCTGCCTGTCTCTCCGACTGGTCTCTCATCACGTTCCACCTCCTGCTCTGTGCTCCAGCCATGCTCAGCAACCTGCGGTTCCCTGAACTGAGCAGCTCCATCCAGGGCACATGTTGACTTTGTTTACATCTGTGACCCAGGGCCTAGGACAGGGCCTGGTATGGAGATGTTTGATGCCTTATTCCCAGGTGAATCTGTGCAATTGACAGCAATGTGTTAGACTATAATTTGGCTATTGCTATATGGTCACCAGCTTCCCATTCCTACACTCAATATGGCCACCAGCTTCCCATTCCTGCACTCAGTATGGCCGCCAGCTTCCCATTCCTGCACTCAAGGCCTGGGCTGTGTCTTGTTATCTCCGTATTCCCAGGGTCAGTGGCTGGACCTGGCCTGGGAAGGGGTGCTGAGAGACGAATGTTGGCTTCACAACATTAGTTTGCTTTGCACTCTACCTCATACCCGGTGGGCCCACAAAACACATCAGGGTGATAAGCAGGATCTCTTTTCCCCTCCTTCGCACAGTGACTTTGAACAGCTTCCGGATGATGTTGCCATCTCGGCCAACATTGCTGACATCGAGGAGAAGAGAGGCTTCACCAGCCACTTTGTAAGACAGACTCCTAGTCCTTCACCCAACAACCTCTGAACTTCCACCCAGCTGACCTCTGAACCTCCAATTCTCTGATCTCTTAACTTCTATCTCAGTGGTTCTCAACAGGACCGATTTTGCCCATTTGACATTACCCTGGGAGATTCTGATTATTGCATCTTGGGGCAGGTCTACTCCACATCTAGTGGGTAGAATCCAGGGTGCTGCTAAACACCCCACTGTGCACATGACAGCCCTGTCCCCAGTAAAGAACTGTCCGGCCCCAGCATAATACTAAGATTGAGAAATCCTGATCGCGTCCTTTGACCTCAGAACCTCCACCTGGAGAGTCGGGGGTGAGGGACTTTAGTGTTGCCCCCACAACACCCCTGTCATATTCAGACACAGATGGAGGGGGCATCCTGCACCCACAGCACAGCCAGGGGCAGGTTCACTCTGCACCATGACCTCCAAGGCATGGCTCCTCATTTCTTGGGCCTGAATGTGTGTTTGGCCTATTTCCAAGGGCTCTTGCCTCTAACACTAGGTCTCACTTCCTCTCTTTTTCCAGTTTTTTTTTTCTTTTCTTTTCTTTTTTTTTCGCAAAGCTCGTCTGCTTCTGGGGCGCCAGCCTTTTGACTTGACAGGGGTCTCCTTCTCCAGAGACCCTTCTGCATCCTTATCCTCATCATCTTCCTCCTCCTCCTCCTCCCCTTTTCCCTTCCACCTCTTTTTGGCTTGTGCTCCTGGCCCCTGAGCCCTCCCCACAACCTCTGTCCTCCTTAGGTTTTCGTCATCGAGGTGAAGACAAAAGGAGGATCCAAGTACCTCATCTACCGCCGCTACCGCCAGTTCCATGCTTTGCAGAGCAAGCTGGAGGAGCGCTTCGGGCCAGACAGCAAGAGCAGTGCCCTGGCCTGTACCCTGCCCACACTCCCAGGTAGGCGGCCACTCCCGTCCTGCTGCTGCAGAGCTGCTGACTCTCCTTCCTTCCAGGGCCCCTGACACTGTTCTGTGATTTGATCTCAACCCCAGTGAAAACTGTTCATGTAGTTTATAGCCCCCACTCCCGGCAGTTACAGGCTGCCAAGCCCTCCCTGCATGGCTCCCCCTGCCTCACGCCATGGCTTCCACCCCAAGCACTCTAGCCTCACAGCCCCGGAGCTCTGATGACCATCGTGGCCACTCGCTCCTGCTGTCCACTACCAGGAGGCCACAGTCTGGAGCACTTCAGCACCTGGCCTCCCTTCCTCAGAGACAGGAATCCCCCAGTCTGGTCCCTAAACACACTGACTCACCTCCCTGCCCACCCTCAGCTTCCTCCCACGAGACCAGCCCTCTGACTTCATGGTCTTGGCTTCCAGCGTCCCTGTGGCTCTCCTTCTTCTCCTGTCCCGCCAGGAAGCTGGGTGGCCTCAAGCCTCTGCTTGCAAACAGTCTCCCCGCCCCCTGGCCTCCTGGTCCTTCCTCCCCAGCTGGATCCTAACGCGCACCTTGGACAGCGCCAAGCCCTTAGCTGCTCAGCACCTGCCCCGCAGGAGGAAACCCCATCACGAATGGGTTACACGGGGGTGGTCTCAGCGGCGCCCTTCGTGCCCTGCAAGTTAGAGACAGGGACAATTGTCTCCCTTCCCCAAGCCTCAGGGACCCTTCCCCAAGCTCCAACCCCATCTCCAGTTTGTTTTTTCTGTCTCTGTTTCTGTCTCTCTCTGTCTCAGCATATGACCCCGCTCCTTCTCATCCAGCCCCACCAAGGAACTTGAAGCTCCCCCTAGGAGTCTTGCCTACTCTAAGCCAGCCTCCCCTCTCAGGCTCCATCATTTTCCCTCCTCTCTCTTTTGGGGCTCTCTCCTGACAATCTACCCCTCCTTTTCCTTGTATATTCATCTTCCTCTTGATATACCAACTCCCTCTGCTAAGCGTCTCCACAGCCTCAACCCTCTTCTGTCTTTAAACAATCCTGAGCCATGAAACAGCATTCTTACAAGCCTCCCTGAGCCTCCGTGCCCCCAGGGCCCCCAAAGTTCTCTTTCTTCTTCCTTTGGCATCAAATTCACGCACTGTCTCACCTTGGCATGGCCATCCTCTCCTTAACNNNNNNNNNNNNNNNNNNNNN
|
benign
| 326,572 |
Is the variant located on chromosome 22 at position 36864916, gene NCF4, benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_3']
|
GGTGCCAGAAAACCTGCCCTGGCTGCCCTCCAAGGGTTCTTCCAACCTCGGCCTCCCCCAGGGCAGGCTCCAAAACCTCCCCCAGGCCAGGCTCCAAAGTCTGTGAACTGTGCGAGTGTGTCTTGAGCCAGAACATCCCGGCCCAGTAGGGCCTGGGTGAGGTCCCCAAGGGAGCGGATATTCCAGGGGACTTCCGGTTGGGTTTGCTGCTCTTCTTGCCCGCCCCACAGGCAGCCAGGCCATTCTCATGCTGCCCATCAAAAAACTCTATAATTGCAGACGACGGTAGTGGCCGTGTATTGAGCAGTACTGAGCACCTACTGTATGCCGGGCTCTGTTCTGGGCACTGGGATGTAGGGTGAGCAGAGTCCTTGCCCTCATGGAGATTTTAGGGCTGTGTTTGTTACAGATGGGACTGCATGACCACCCGGAGACATAAGTACTTCTCCTGTCCCCATTTTACAGAGGAGGGAAGGAGCGGAGCACAGCTAGGAATCTTCCCAAGGGAGCTTGATCTTCTTGTCCCCAGTGCTGCGCCTATGCCTCGAGCATCTGCCAATGTCTGTCCTGCTTGACTCCTTCCTCAGCCCCCACCACCCCAGGGAAAACTCGAGGTCCCTCTGCGAGGCATCAAGGCACCTCGTGAGCGGGCCCTGCCTGTCTCTCCGACTGGTCTCTCATCACGTTCCACCTCCTGCTCTGTGCTCCAGCCATGCTCAGCAACCTGCGGTTCCCTGAACTGAGCAGCTCCATCCAGGGCACATGTTGACTTTGTTTACATCTGTGACCCAGGGCCTAGGACAGGGCCTGGTATGGAGATGTTTGATGCCTTATTCCCAGGTGAATCTGTGCAATTGACAGCAATGTGTTAGACTATAATTTGGCTATTGCTATATGGTCACCAGCTTCCCATTCCTACACTCAATATGGCCACCAGCTTCCCATTCCTGCACTCAGTATGGCCGCCAGCTTCCCATTCCTGCACTCAAGGCCTGGGCTGTGTCTTGTTATCTCCGTATTCCCAGGGTCAGTGGCTGGACCTGGCCTGGGAAGGGGTGCTGAGAGACGAATGTTGGCTTCACAACATTAGTTTGCTTTGCACTCTACCTCATACCCGGTGGGCCCACAAAACACATCAGGGTGATAAGCAGGATCTCTTTTCCCCTCCTTCGCACAGTGACTTTGAACAGCTTCCGGATGATGTTGCCATCTCGGCCAACATTGCTGACATCGAGGAGAAGAGAGGCTTCACCAGCCACTTTGTAAGACAGACTCCTAGTCCTTCACCCAACAACCTCTGAACTTCCACCCAGCTGACCTCTGAACCTTGCCCTCTGACCTCTGAACCTCCAATTCTCTGATCTCTTAACTTCTATCTCAGTGGTTCTCAACAGGACCGATTTTGCCCATTTGACATTACCCTGGGAGATTCTGATTATTGCATCTTGGGGCAGGTCTACTCCACATCTAGTGGGTAGAATCCAGGGTGCTGCTAAACACCCCACTGTGCACATGACAGCCCTGTCCCCAGTAAAGAACTGTCCGGCCCCAGCATAATACTAAGATTGAGAAATCCTGATCGCGTCCTTTGACCTCAGAACCTCCACCTGGAGAGTCGGGGGTGAGGGACTTTAGTGTTGCCCCCACAACACCCCTGTCATATTCAGACACAGATGGAGGGGGCATCCTGCACCCACAGCACAGCCAGGGGCAGGTTCACTCTGCACCATGACCTCCAAGGCATGGCTCCTCATTTCTTGGGCCTGAATGTGTGTTTGGCCTATTTCCAAGGGCTCTTGCCTCTAACACTAGGTCTCACTTCCTCTCTTTTTCCAGTTTTTTTTTTCTTTTCTTTTCTTTTTTTTTCGCAAAGCTCGTCTGCTTCTGGGGCGCCAGCCTTTTGACTTGACAGGGGTCTCCTTCTCCAGAGACCCTTCTGCATCCTTATCCTCATCATCTTCCTCCTCCTCCTCCTCCCCTTTTCCCTTCCACCTCTTTTTGGCTTGTGCTCCTGGCCCCTGAGCCCTCCCCACAACCTCTGTCCTCCTTAGGTTTTCGTCATCGAGGTGAAGACAAAAGGAGGATCCAAGTACCTCATCTACCGCCGCTACCGCCAGTTCCATGCTTTGCAGAGCAAGCTGGAGGAGCGCTTCGGGCCAGACAGCAAGAGCAGTGCCCTGGCCTGTACCCTGCCCACACTCCCAGGTAGGCGGCCACTCCCGTCCTGCTGCTGCAGAGCTGCTGACTCTCCTTCCTTCCAGGGCCCCTGACACTGTTCTGTGATTTGATCTCAACCCCAGTGAAAACTGTTCATGTAGTTTATAGCCCCCACTCCCGGCAGTTACAGGCTGCCAAGCCCTCCCTGCATGGCTCCCCCTGCCTCACGCCATGGCTTCCACCCCAAGCACTCTAGCCTCACAGCCCCGGAGCTCTGATGACCATCGTGGCCACTCGCTCCTGCTGTCCACTACCAGGAGGCCACAGTCTGGAGCACTTCAGCACCTGGCCTCCCTTCCTCAGAGACAGGAATCCCCCAGTCTGGTCCCTAAACACACTGACTCACCTCCCTGCCCACCCTCAGCTTCCTCCCACGAGACCAGCCCTCTGACTTCATGGTCTTGGCTTCCAGCGTCCCTGTGGCTCTCCTTCTTCTCCTGTCCCGCCAGGAAGCTGGGTGGCCTCAAGCCTCTGCTTGCAAACAGTCTCCCCGCCCCCTGGCCTCCTGGTCCTTCCTCCCCAGCTGGATCCTAACGCGCACCTTGGACAGCGCCAAGCCCTTAGCTGCTCAGCACCTGCCCCGCAGGAGGAAACCCCATCACGAATGGGTTACACGGGGGTGGTCTCAGCGGCGCCCTTCGTGCCCTGCAAGTTAGAGACAGGGACAATTGTCTCCCTTCCCCAAGCCTCAGGGACCCTTCCCCAAGCTCCAACCCCATCTCCAGTTTGTTTTTTCTGTCTCTGTTTCTGTCTCTCTCTGTCTCAGCATATGACCCCGCTCCTTCTCATCCAGCCCCACCAAGGAACTTGAAGCTCCCCCTAGGAGTCTTGCCTACTCTAAGCCAGCCTCCCCTCTCAGGCTCCATCATTTTCCCTCCTCTCTCTTTTGGGGCTCTCTCCTGACAATCTACCCCTCCTTTTCCTTGTATATTCATCTTCCTCTTGATATACCAACTCCCTCTGCTAAGCGTCTCCACAGCCTCAACCCTCTTCTGTCTTTAAACAATCCTGAGCCATGAAACAGCATTCTTACAAGCCTCCCTGAGCCTCCGTGCCCCCAGGGCCCCCAAAGTTCTCTTTCTTCTTCCTTTGGCATCAAATTCACGCACTGTCTCACCTTGGCATGGCCATCCTCTCCTTAACTCCTCAGCTTGGTTTAGCTCTGACTACTCCACTGAAATTCCTCTCGGTGAGGTGGGCCATGACCCATCAATTCTGGCTTCCATGGCCAGTGCCAAGCCTCATCTTCACACCCCCACTCCTTCCTCTGTTAAGCTTTCTCCAACCTCCTGAGGCACCAGTGTCTCCCAATCCCCTTCCTAGCTTACTAGAGACTCCTTCAGCTTCTCTGTTACAGAATCAACCTTCTCTGCTGCTCCTTGGAAGGTGGGGATCCTCTGAGCAGACATCCTCTCTCCCCTGCCTTGTCTTCTCATTCCAAACACTCACCCTGGCAAACTGACCCATGTCTGGGACTTAATTGTCACGTTTTTGCTCCTAACTCCCAATGTCTAGCTCTAGCCCAGACCCTCCTACCGCCGCCGCCATCACCTCTGTCCATCTCCTGGACACCAGGAGCCAGGCAGGTTTCAGACTTGCTTCCTCGTAGGGGTTCTCTTGGTGAATGGTTCCACCAGTGCGCCCACATGAAGGCACCTGGAGGGGACATTTGTCTCTTGGTAGCCCGTCATATTTCCTTTTCCTCCAGAACATCTGCCTTGAGCTTGAGGAATTGTTCATTCATCCACTTAACAAATGCTCATTCATCTGGGCATGATTCTAGACCCATGGTTCTTAACTTTGGTGGTATGTGGACGTGCCTTGAGAGATGGAAAGAATCCTGGTTCCTGAGTCCTGCCCCCGGAGATTCTGATTTAAT
|
GGTGCCAGAAAACCTGCCCTGGCTGCCCTCCAAGGGTTCTTCCAACCTCGGCCTCCCCCAGGGCAGGCTCCAAAACCTCCCCCAGGCCAGGCTCCAAAGTCTGTGAACTGTGCGAGTGTGTCTTGAGCCAGAACATCCCGGCCCAGTAGGGCCTGGGTGAGGTCCCCAAGGGAGCGGATATTCCAGGGGACTTCCGGTTGGGTTTGCTGCTCTTCTTGCCCGCCCCACAGGCAGCCAGGCCATTCTCATGCTGCCCATCAAAAAACTCTATAATTGCAGACGACGGTAGTGGCCGTGTATTGAGCAGTACTGAGCACCTACTGTATGCCGGGCTCTGTTCTGGGCACTGGGATGTAGGGTGAGCAGAGTCCTTGCCCTCATGGAGATTTTAGGGCTGTGTTTGTTACAGATGGGACTGCATGACCACCCGGAGACATAAGTACTTCTCCTGTCCCCATTTTACAGAGGAGGGAAGGAGCGGAGCACAGCTAGGAATCTTCCCAAGGGAGCTTGATCTTCTTGTCCCCAGTGCTGCGCCTATGCCTCGAGCATCTGCCAATGTCTGTCCTGCTTGACTCCTTCCTCAGCCCCCACCACCCCAGGGAAAACTCGAGGTCCCTCTGCGAGGCATCAAGGCACCTCGTGAGCGGGCCCTGCCTGTCTCTCCGACTGGTCTCTCATCACGTTCCACCTCCTGCTCTGTGCTCCAGCCATGCTCAGCAACCTGCGGTTCCCTGAACTGAGCAGCTCCATCCAGGGCACATGTTGACTTTGTTTACATCTGTGACCCAGGGCCTAGGACAGGGCCTGGTATGGAGATGTTTGATGCCTTATTCCCAGGTGAATCTGTGCAATTGACAGCAATGTGTTAGACTATAATTTGGCTATTGCTATATGGTCACCAGCTTCCCATTCCTACACTCAATATGGCCACCAGCTTCCCATTCCTGCACTCAGTATGGCCGCCAGCTTCCCATTCCTGCACTCAAGGCCTGGGCTGTGTCTTGTTATCTCCGTATTCCCAGGGTCAGTGGCTGGACCTGGCCTGGGAAGGGGTGCTGAGAGACGAATGTTGGCTTCACAACATTAGTTTGCTTTGCACTCTACCTCATACCCGGTGGGCCCACAAAACACATCAGGGTGATAAGCAGGATCTCTTTTCCCCTCCTTCGCACAGTGACTTTGAACAGCTTCCGGATGATGTTGCCATCTCGGCCAACATTGCTGACATCGAGGAGAAGAGAGGCTTCACCAGCCACTTTGTAAGACAGACTCCTAGTCCTTCACCCAACAACCTCTGAACTTCCACCCAGCTGACCTCTGAACCTTGCCCTCTGACCTCTGAACCTCCAATTCTCTGATCTCTTAACTTCTATCTCAGTGGTTCTCAACAGGACCGATTTTGCCCATTTGACATTACCCTGGGAGATTCTGATTATTGCATCTTGGGGCAGGTCTACTCCACATCTAGTGGGTAGAATCCAGGGTGCTGCTAAACACCCCACTGTGCACATGACAGCCCTGTCCCCAGTAAAGAACTGTCCGGCCCCAGCATAATACTAAGATTGAGAAATCCTGATCGCGTCCTTTGACCTCAGAACCTCCACCTGGAGAGTCGGGGGTGAGGGACTTTAGTGTTGCCCCCACAACACCCCTGTCATATTCAGACACAGATGGAGGGGGCATCCTGCACCCACAGCACAGCCAGGGGCAGGTTCACTCTGCACCATGACCTCCAAGGCATGGCTCCTCATTTCTTGGGCCTGAATGTGTGTTTGGCCTATTTCCAAGGGCTCTTGCCTCTAACACTAGGTCTCACTTCCTCTCTTTTTCCAGTTTTTTTTTTCTTTTCTTTTCTTTTTTTTTCGCAAAGCTCGTCTGCTTCTGGGGCGCCAGCCTTTTGACTTGACAGGGGTCTCCTTCTCCAGAGACCCTTCTGCATCCTTATCCTCATCATCTTCCTCCTCCTCCTCCTCCCCTTTTCCCTTCCACCTCTTTTTGGCTTGTGCTCCTGGCCCCTGAGCCCTCCCCACAACCTCTGTCCTCCTTAGGTGAAGACAAAAGGAGGATCCAAGTACCTCATCTACCGCCGCTACCGCCAGTTCCATGCTTTGCAGAGCAAGCTGGAGGAGCGCTTCGGGCCAGACAGCAAGAGCAGTGCCCTGGCCTGTACCCTGCCCACACTCCCAGGTAGGCGGCCACTCCCGTCCTGCTGCTGCAGAGCTGCTGACTCTCCTTCCTTCCAGGGCCCCTGACACTGTTCTGTGATTTGATCTCAACCCCAGTGAAAACTGTTCATGTAGTTTATAGCCCCCACTCCCGGCAGTTACAGGCTGCCAAGCCCTCCCTGCATGGCTCCCCCTGCCTCACGCCATGGCTTCCACCCCAAGCACTCTAGCCTCACAGCCCCGGAGCTCTGATGACCATCGTGGCCACTCGCTCCTGCTGTCCACTACCAGGAGGCCACAGTCTGGAGCACTTCAGCACCTGGCCTCCCTTCCTCAGAGACAGGAATCCCCCAGTCTGGTCCCTAAACACACTGACTCACCTCCCTGCCCACCCTCAGCTTCCTCCCACGAGACCAGCCCTCTGACTTCATGGTCTTGGCTTCCAGCGTCCCTGTGGCTCTCCTTCTTCTCCTGTCCCGCCAGGAAGCTGGGTGGCCTCAAGCCTCTGCTTGCAAACAGTCTCCCCGCCCCCTGGCCTCCTGGTCCTTCCTCCCCAGCTGGATCCTAACGCGCACCTTGGACAGCGCCAAGCCCTTAGCTGCTCAGCACCTGCCCCGCAGGAGGAAACCCCATCACGAATGGGTTACACGGGGGTGGTCTCAGCGGCGCCCTTCGTGCCCTGCAAGTTAGAGACAGGGACAATTGTCTCCCTTCCCCAAGCCTCAGGGACCCTTCCCCAAGCTCCAACCCCATCTCCAGTTTGTTTTTTCTGTCTCTGTTTCTGTCTCTCTCTGTCTCAGCATATGACCCCGCTCCTTCTCATCCAGCCCCACCAAGGAACTTGAAGCTCCCCCTAGGAGTCTTGCCTACTCTAAGCCAGCCTCCCCTCTCAGGCTCCATCATTTTCCCTCCTCTCTCTTTTGGGGCTCTCTCCTGACAATCTACCCCTCCTTTTCCTTGTATATTCATCTTCCTCTTGATATACCAACTCCCTCTGCTAAGCGTCTCCACAGCCTCAACCCTCTTCTGTCTTTAAACAATCCTGAGCCATGAAACAGCATTCTTACAAGCCTCCCTGAGCCTCCGTGCCCCCAGGGCCCCCAAAGTTCTCTTTCTTCTTCCTTTGGCATCAAATTCACGCACTGTCTCACCTTGGCATGGCCATCCTCTCCTTAACTCCTCAGCTTGGTTTAGCTCTGACTACTCCACTGAAATTCCTCTCGGTGAGGTGGGCCATGACCCATCAATTCTGGCTTCCATGGCCAGTGCCAAGCCTCATCTTCACACCCCCACTCCTTCCTCTGTTAAGCTTTCTCCAACCTCCTGAGGCACCAGTGTCTCCCAATCCCCTTCCTAGCTTACTAGAGACTCCTTCAGCTTCTCTGTTACAGAATCAACCTTCTCTGCTGCTCCTTGGAAGGTGGGGATCCTCTGAGCAGACATCCTCTCTCCCCTGCCTTGTCTTCTCATTCCAAACACTCACCCTGGCAAACTGACCCATGTCTGGGACTTAATTGTCACGTTTTTGCTCCTAACTCCCAATGTCTAGCTCTAGCCCAGACCCTCCTACCGCCGCCGCCATCACCTCTGTCCATCTCCTGGACACCAGGAGCCAGGCAGGTTTCAGACTTGCTTCCTCGTAGGGGTTCTCTTGGTGAATGGTTCCACCAGTGCGCCCACATGAAGGCACCTGGAGGGGACATTTGTCTCTTGGTAGCCCGTCATATTTCCTTTTCCTCCAGAACATCTGCCTTGAGCTTGAGGAATTGTTCATTCATCCACTTAACAAATGCTCATTCATCTGGGCATGATTCTAGACCCATGGTTCTTAACTTTGGTGGTATGTGGACGTGCCTTGAGAGATGGAAAGAATCCTGGTTCCTGAGTCCTGCCCCCGGAGATTCTGATTTAATNNNNNNNNNNNNNNN
|
pathogenic
| 326,574 |
Variant chromosome 22, position 37069345, gene TMPRSS6 (transmembrane serine protease 6): benign or pathogenic? Disease(s)?
|
benign
|
CCTGTCTGTACTAAAAATACAAAATTAGCTGGGTGTGGTGGCACATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAACCGCTTGAACCCGGGAGGAGGGGGATCCGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAACAAAAAAAAGAAAAAAGAAAAAAGCCCGTGTGGATGAGTGTCTTCCTCCAGCTTCTTGTCCCCCACCTCTGTCTGCTGAGGCACCTCTGGGCTCTGGCTGGCTCCTCGCTGCTCTGTTACAGCACCTGCAGATGTCTCCGAAGCCCACATCTGATCCCTTCATGGTTTCCTTAGAACTCTGCAGTGCCCCAACTCTGCAGTCTGCCCTAGCGCTTCTCCACGAGGGCTGCATATCACAGTCCCCCGGGGAGCCTTGATACGCAGTTTTTCTTGAAACTCCCCGTATGGTTCTAAGGTGCAGGTAGGAGGGAGAACTCCTGGCCTAAGATCCTTATGCTGGCCGGCAAGGCCCTGTCTGCCATTCTGGTTGCTCCTCGCCCAAGGCCCTGTCTGCCATTCTGGTTGCTCCTCGCCCAGGCACGCCTGCCCCCCACCTCAGCCCCTCTGGCAGGCTGCGGATGTTCTCACATCTTCCTGTCTTGGCACCTGTGTCTTCACCTGAATGTCTTTCCCCTTTGTCTGAATGTTGCCAACTCATCTTCCAGGCCTCAGCTTAAACAACCCTCCCCTGGAAGCCTCCCCTGACCCTAGCTGGGCAGGAGCCTCCTCTGTGTCTCCACTGTTCCTGCATCTCCCCATCCATGTCAGCTCTTACCACTGTCTGTCTCCCCCGAGAATGTTCTCTCTTCATCCTTATGTACCCTTCCCCTAACCCCACGCCTGGTACGTACTTGGTGCTCAGAAAGTGTCATTGAGTGACTGAATGAGTGAAGGAATAGTGAATGAACCAGCCTTTGCTTTGCCATGACCACTGCCATCCCCTTGGGTAAGTCACTGTTCCTCTGAGCCTCAGTTTCCCCATCCTTAAAATATCTCTGCGGCCCCGCCTGCTTCCAGATTGTAAGTCACTGTACACATTTTTGAAGCCACCAACACTAACGCTGCAGGGCATGTCTGTAGGTTTGCCAGCTGGGTCTGTGTCCCCAAAACTGTGCGGTGGCCGCCAGGGACTCTGGTCAGTGAACGTAGAAAGGGGAGAGACCCTGTTTCTGAGAGCAGTAGCAGGAAGAGCAGGGGCTCTGGAGGCAGCCAGCCCTGGGTTCTAATCTTTGCTCCAGTCCTCTCTGGCTGTGTGACTTACAGCAACATGTCTCTGAGCCTTGGTTTCTCCATCCATAAAATAGGGCCACAGCATCCGCCCGTAGGGCTGTTGGGTGGATTATATGAAGTCAAGTTCCCCTAAAATCCAGCCTGGATGTGGAAAGTGCTAGTAATTAAGAGCCTTCCACCCTTGCAGCCCAAGGAACAGCAGGTGGAGCTTGCACGTGGGCAGTGGCGTCCCAGACCTGCCCCTTTGCCCCACACATAACGCCCTTCCAGAAGGAAGGGAAGAGCTAGGAGGGGAGGGGCAGGGGCCTACAGGCCGCATTAAATGGTGGTTTTCTACCGTAAAATTCAGCCCAATTTGAATCCCAGCACTAGAGGGCCTATGGGGTGGAGCCCCGGGACCCCCAGCCCCGCCCTTCTCCAGGCCAGGTGTTACGGCGCAGATCCGCACGGTCTCCCTCCGCCTCCCGCCGCAAGTCCCCGCTGCTCACCGCCCTCGCGCAAGGCGCCCCAGCCCGTAATCCAGCAGTGCAGGCCGGGCTCGAAGAAGTGGGAGCGCGCGGGCAGGCAGACGGGGCGCACGGCGGCCGAGCGCACCACCGGGTGGTCGAGCTGCAGCAGCGCCACGTCGTAGTCATGGCTGTCCTCTTCGTGGTACGGGTGCAGGAGCAGGCGGCTCACCTTGAAGGACACCTCTCCAGGCCAGCGCGAGTTCTGCCACACCTTGCCCAGGAACACGGTCCACAGCACCGTGGAGGCCATGCTGGGGTGGGGTGGGGTGGGGTGGGGTGGGGTGAGGTGAGGTGGGAGGAAGCTGCCTCTCCCCATCCAGGGACCCTCAAGATAGCCAGATCCCCGCCCGGGACAGTGCCCTCCACACCCAGCCCTCCCTTCCCTCCCTGAAGGTCGCCTAGCTGGTGGTACAGCGTTCAGCCTTCACCCACTCGGCCTGCCTGGGTTCCACGCCCCAGCTTCATCCCTCCCTAGACATGGGTGTGCCTCTCTAAGCCTCTGCCACCTCATCTGCAAATGGGAATGGCATTTTCTACTCGAATGTTCTTGAGAGAATCCAATAAGACCGTGTATCTAAAAAATGTAGCACAGTGCCAGGCCCCCGACACAGATTTCTTTTTTCCTGTGTGCTTTACAGACCCAGGCTGCTCTGAATTCCCTGAGGCTGGTGGGTCCTAGTGGGGAGCGGGTGGGAGTTGAGCGTGGAGGAATTGGACTGCGGCAGTCAGCTGCCTGGGTGGCAGATGGGCAGCCTTCGGGTCTCTACCCTCTACCTGAGGGCAGTGGGGAGCCTGAGATGGGGTTAAAGAGAGCTAGGTGGTCAGAGCGCCCTGCGTCCCAGAGAGGATACAAAAGGGGATCCCTGTGCAGGGCCTGGGGGCGGGATCTGGAGCCCAGATCTGTCTGGGGGTGGATTGGGGGAGGTTTCAGCCCACCAAGCAGATGGGAAAGATGGCCATGAGGCCTGATGAGATGTCCCCTGGGGGCTCCCCAGCCCCACCTGCTACCTCGTGTCACACCTCGGGGAGTGTCATAGCTTATGACCAGGTTGGGCAGTTCTGTCCTTTACTGAATCCCCAGCATCTAGCACAGCCCTGGCACATAGTAGGAGCACAAGTGTTGCTGAATGAGTGAATGAGATGAATGAATGAATTACTGGCCCAACTTAAAGCAAGATACCAAAAGTAGATGGCAGAGAGGTGGAACAATGTGTCCGGGGACCCAGAAGGTCCTGGTGGAGCCAGGACTAGAACTCACATCACAGTAGCCTGTCTGGGGGGTCCACCACCCTTCCCTCTATCTGCAAAGAGCTCAGACACAGTGCACCTCCCACCGGGCCTTCCCTGCCCTTGTCTCTTACTGCCTAGGCCCCCACACCCTCCCGCTCACCTGTCCTCCTGGAAGCAGTGGGCAGCTGTTATCACCCAGCGGTCAGCGATGAGGGCCCCCCCACAGATGTGTCGACCCCGAACCTGGAGGCTGGCCTGCCATGGCCACTCACCCTCGGAGGACACAGCTCCACCAACAATGCGGCTGGAGGGGCCCTGGAGGCCACAGTCTGGGGATGGGGGCAGGTGGTGGGGTGGACAGAGGAGGAGGGGAAGGGGAGAAGCAGACAGAGAGGAAGGGCAAAGGAAAGAGATGGAGAGACAGAGAACAGGAGAATGATGGAGGGGGAGAGACCATCAGGACCCAGGCAAGGGGGCAGAGGATGAGATAGAGAGAGACCAGGGGACAACAGTGAGATTTCCCTCCAGCTTCCTGCTGTGGGCACCCCCTCCCTCCCAAGCTCCAGGGCCCCGGCAGCCAGGCAGGGCTCACCACAGTGCTCCTCATCCGAGCCGTCCCTGCAGTCGGGCCGCCCATCACACTGCGGGTTGGGCTTCTTCACGCAGCTCCGGTCCTCACACTGGAAGGTGAATGTCCCACATGGCACCCCTGGGACAGAGGGGATGGGGGCAGGGCACAGAAGGTGGGTCTCTGAGCCCCAAGGAAACCTTCCAAAGTGGGGTGCAGGAACGATGGAGCCAGAAGAGCCAGGAGGTGACTAGAGAGTCTTTTCCTGAGTCTCCTTTAGGGTCTCCTAAAAGCAGGCCATGTCCCCCCGCCCCCCACAGCCCCTCCACTCAGACTGGCCTATTGAGCACAAAGTGGTGTCTCCATTCTCAGACTGGAGATCCTGACCACAAGATCATGCCTCCCCCTCCAGTGTGGAACTTGAAGGCAGAACTGTGCCTCCACTTTTAGACCAGGGTCCGCACCTAGCCTGGCAATCTCCCAGGCTCTGGCCCTGCCCGG
|
CCTGTCTGTACTAAAAATACAAAATTAGCTGGGTGTGGTGGCACATGCCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAACCGCTTGAACCCGGGAGGAGGGGGATCCGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAACAAAAAAAAGAAAAAAGAAAAAAGCCCGTGTGGATGAGTGTCTTCCTCCAGCTTCTTGTCCCCCACCTCTGTCTGCTGAGGCACCTCTGGGCTCTGGCTGGCTCCTCGCTGCTCTGTTACAGCACCTGCAGATGTCTCCGAAGCCCACATCTGATCCCTTCATGGTTTCCTTAGAACTCTGCAGTGCCCCAACTCTGCAGTCTGCCCTAGCGCTTCTCCACGAGGGCTGCATATCACAGTCCCCCGGGGAGCCTTGATACGCAGTTTTTCTTGAAACTCCCCGTATGGTTCTAAGGTGCAGGTAGGAGGGAGAACTCCTGGCCTAAGATCCTTATGCTGGCCGGCAAGGCCCTGTCTGCCATTCTGGTTGCTCCTCGCCCAAGGCCCTGTCTGCCATTCTGGTTGCTCCTCGCCCAGGCACGCCTGCCCCCCACCTCAGCCCCTCTGGCAGGCTGCGGATGTTCTCACATCTTCCTGTCTTGGCACCTGTGTCTTCACCTGAATGTCTTTCCCCTTTGTCTGAATGTTGCCAACTCATCTTCCAGGCCTCAGCTTAAACAACCCTCCCCTGGAAGCCTCCCCTGACCCTAGCTGGGCAGGAGCCTCCTCTGTGTCTCCACTGTTCCTGCATCTCCCCATCCATGTCAGCTCTTACCACTGTCTGTCTCCCCCGAGAATGTTCTCTCTTCATCCTTATGTACCCTTCCCCTAACCCCACGCCTGGTACGTACTTGGTGCTCAGAAAGTGTCATTGAGTGACTGAATGAGTGAAGGAATAGTGAATGAACCAGCCTTTGCTTTGCCATGACCACTGCCATCCCCTTGGGTAAGTCACTGTTCCTCTGAGCCTCAGTTTCCCCATCCTTAAAATATCTCTGCGGCCCCGCCTGCTTCCAGATTGTAAGTCACTGTACACATTTTTGAAGCCACCAACACTAACGCTGCAGGGCATGTCTGTAGGTTTGCCAGCTGGGTCTGTGTCCCCAAAACTGTGCGGTGGCCGCCAGGGACTCTGGTCAGTGAACGTAGAAAGGGGAGAGACCCTGTTTCTGAGAGCAGTAGCAGGAAGAGCAGGGGCTCTGGAGGCAGCCAGCCCTGGGTTCTAATCTTTGCTCCAGTCCTCTCTGGCTGTGTGACTTACAGCAACATGTCTCTGAGCCTTGGTTTCTCCATCCATAAAATAGGGCCACAGCATCCGCCCGTAGGGCTGTTGGGTGGATTATATGAAGTCAAGTTCCCCTAAAATCCAGCCTGGATGTGGAAAGTGCTAGTAATTAAGAGCCTTCCACCCTTGCAGCCCAAGGAACAGCAGGTGGAGCTTGCACGTGGGCAGTGGCGTCCCAGACCTGCCCCTTTGCCCCACACATAACGCCCTTCCAGAAGGAAGGGAAGAGCTAGGAGGGGAGGGGCAGGGGCCTACAGGCCGCATTAAATGGTGGTTTTCTACCGTAAAATTCAGCCCAATTTGAATCCCAGCACTAGAGGGCCTATGGGGTGGAGCCCCGGGACCCCCAGCCCCGCCCTTCTCCAGGCCAGGTGTTACGGCGCAGATCCGCACGGTCTCCCTCCGCCTCCCGCCGCAAGTCCCCGCTGCTCACCGCCCTCGCGCAAGGCGCCCCAGCCCGTAATCCAGCAGTGCAGGCCGGGCTCGAAGAAGTGGGAGCGCGCGGGCAGGCAGACGGGGCGCACGGCGGCCGAGCGCACCACCGGGTGGTCGAGCTGCAGCAGCGCCACGTCGTAGTCATGGCTGTCCTCTTCGTGGTACGGGTGCAGGAGCAGGCGGCTCACCTTGAAGGACACCTCTCCAGGCCAGCGCGAGTTCTGCCACACCTTGCCCAGGAACACGGTCCACAGCACCGTGGAGGCCATGCTGGGGTGGGGTGGGGTGGGGTGGGGTGAGGTGAGGTGGGAGGAAGCTGCCTCTCCCCATCCAGGGACCCTCAAGATAGCCAGATCCCCGCCCGGGACAGTGCCCTCCACACCCAGCCCTCCCTTCCCTCCCTGAAGGTCGCCTAGCTGGTGGTACAGCGTTCAGCCTTCACCCACTCGGCCTGCCTGGGTTCCACGCCCCAGCTTCATCCCTCCCTAGACATGGGTGTGCCTCTCTAAGCCTCTGCCACCTCATCTGCAAATGGGAATGGCATTTTCTACTCGAATGTTCTTGAGAGAATCCAATAAGACCGTGTATCTAAAAAATGTAGCACAGTGCCAGGCCCCCGACACAGATTTCTTTTTTCCTGTGTGCTTTACAGACCCAGGCTGCTCTGAATTCCCTGAGGCTGGTGGGTCCTAGTGGGGAGCGGGTGGGAGTTGAGCGTGGAGGAATTGGACTGCGGCAGTCAGCTGCCTGGGTGGCAGATGGGCAGCCTTCGGGTCTCTACCCTCTACCTGAGGGCAGTGGGGAGCCTGAGATGGGGTTAAAGAGAGCTAGGTGGTCAGAGCGCCCTGCGTCCCAGAGAGGATACAAAAGGGGATCCCTGTGCAGGGCCTGGGGGCGGGATCTGGAGCCCAGATCTGTCTGGGGGTGGATTGGGGGAGGTTTCAGCCCACCAAGCAGATGGGAAAGATGGCCATGAGGCCTGATGAGATGTCCCCTGGGGGCTCCCCAGCCCCACCTGCTACCTCGTGTCACACCTCGGGGAGTGTCATAGCTTATGACCAGGTTGGGCAGTTCTGTCCTTTACTGAATCCCCAGCATCTAGCACAGCCCTGGCACATAGTAGGAGCACAAGTGTTGCTGAATGAGTGAATGAGATGAATGAATGAATTACTGGCCCAACTTAAAGCAAGATACCAAAAGTAGATGGCAGAGAGGTGGAACAATGTGTCCGGGGACCCAGAAGGTCCTGGTGGAGCCAGGACTAGAACTCACATCACAGTAGCCTGTCTGGGGGGTCCACCACCCTTCCCTCTATCTGCAAAGAGCTCAGACACAGTGCACCTCCCACCGGGCCTTCCCTGCCCTTGTCTCTTACTGCCTAGGCCCCCACACCCTCCCGCTCACCTGTCCTCCTGGAAGCAGTGGGCAGCTGTTATCACCCAGCGGTCAGCGATGAGGGCCCCCCCACAGATGTGTCGACCCCGAACCTGGAGGCTGGCCTGCCATGGCCACTCACCCTCGGAGGACACAGCTCCACCAACAATGCGGCTGGAGGGGCCCTGGAGGCCACAGTCTGGGGATGGGGGCAGGTGGTGGGGTGGACAGAGGAGGAGGGGAAGGGGAGAAGCAGACAGAGAGGAAGGGCAAAGGAAAGAGATGGAGAGACAGAGAACAGGAGAATGATGGAGGGGGAGAGACCATCAGGACCCAGGCAAGGGGGCAGAGGATGAGATAGAGAGAGACCAGGGGACAACAGTGAGATTTCCCTCCAGCTTCCTGCTGTGGGCACCCCCTCCCTCCCAAGCTCCAGGGCCCCGGCAGCCAGGCAGGGCTCACCACAGTGCTCCTCATCCGAGCCGTCCCTGCAGTCGGGCCGCCCATCACACTGCGGGTTGGGCTTCTTCACGCAGCTCCGGTCCTCACACTGGAAGGTGAATGTCCCACATGGCACCCCTGGGACAGAGGGGATGGGGGCAGGGCACAGAAGGTGGGTCTCTGAGCCCCAAGGAAACCTTCCAAAGTGGGGTGCAGGAACGATGGAGCCAGAAGAGCCAGGAGGTGACTAGAGAGTCTTTTCCTGAGTCTCCTTTAGGGTCTCCTAAAAGCAGGCCATGTCCCCCCGCCCCCCACAGCCCCTCCACTCAGACTGGCCTATTGAGCACAAAGTGGTGTCTCCATTCTCAGACTGGAGATCCTGACCACAAGATCATGCCTCCCCCTCCAGTGTGGAACTTGAAGGCAGAACTGTGCCTCCACTTTTAGACCAGGGTCCGCACCTAGCCTGGCAATCTCCCAGGCTCTGGCCCTGCCCGGNNNNN
|
benign
| 326,683 |
Mutation found at chromosome 22 position 37710446, gene TRIOBP (TRIO and F-actin binding protein): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Rare_genetic_deafness']
|
AAAATTAGCCGGGCATGGTGTCGGGCACCTGTAATCACAGCTACTGGGGTGGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGACTGCACCATTGCACTCTAACCTGGGCTATAAGAGCGAGACTCTGTCTCAAAAAAAAAGCCCTTTACAAATATTAACTCGTTTAATTCTCAGAACACCCCTAGGAGGTGGGTCCTGCTATCCTGCCGGTTTTGTAGATGAGGTAACTGAGGCACAGAGAGGATAAGTCACGTGGCCCAGGTCTTGGTCGCTTCTCAGCCTCCATTTCCGAGAGGAGAAAACAATGCTCCGAAAGGGGAAGTCATCGGCCTGAGGTCACCAGCCGGGAACCGGAGGAGCCAGGATGGGGCCCGAGGTCCATCTGAGGCCAGAGCCAGTGCTGACCCGCCAGACAGGAAATCAGAGCTGGGGACTGACCGTGGGGCCCACTCAAGTGGGTGGTGTGGGGTGGTGACGGGGGCTGGGGTGAAAGCCAGGATGAGGTGTCACATTAGGCTAGGGTTCCTGCTGGGCCTGGCGGGGCAGAGACCCCTGGTTGATGCCTGGCAAGTCTCTCCTCATTTCTGCTGTGCTGTCCCCTGGGTGGCCAAGGCGCCAGGCCCGGCTGTGGATCTGACACCTCCTGCTGCCGAGCTCTGATCAGAATCTGGCTGCAGGGCAGGGGGTGAAACTGAATCCCACCAGGCCTCCCCTGGCCTGGATGTCACGGCAGACATCCCAACCCCACTTCTTGGCACTGCCTGACCCCAGCAGTGGCCTTCTTGGAACCTGGAGAGCCTGTGCCCACCCTGTGGTGCCGACCAGGCTGCTGCCTTGGCCCTGGGCTCTGGGCTCCAGGGTCCCCAGGGATCCCAGGCCCAGGCTCTTGCCCCTCCCGGCTCTCAGGTGAGCTGCTGGGATCGGGTTCCTGCGGTTTCATGTCTTTCATTGTTCTTGGCTGGGGCCCGGCTTATGAAACTGTAATGAGGGGCCCCTGCTCCCGAAGCCGGCCCCTCTAAGGTTTCCACTGCCTCGGCGGCTGCTGCCACCACAGCCCGGAGTCGGGGCCTGGGAGGGCAGCAGTGTGGGGGCCTGAGCCGGAGCCCCCCGGGGACGAGGGTGCTGACAGTCGACAGCCACCACCACCACCAGAGCCCGCAGCCCAGGTAATCCGAGAGGAGGCGGGGCGCAGGGTGCCATGGCCGCTGTCTCCCACCACCAGGGGAGGGAACTGCCGCTCTCCAGAGGTGGGGAGGAATTGGGGGGGGCCCTGGAGGTGAGCAGCCGTTCCCCCCTGGTGAGCCCAGCACCAGACCAGCCTTCACAGGTGTGGCCTTGCCAAAGGTGGAGGGAGAGAGGAGTGGGCAGCTGGCTCTAGCCCCCGCCCTTTTCCTGGGGCCTTGACCCTCCAGCCCTGGATCCCCTGCCTCTCCTTTAGTGGGGCAAATCTCTTCTGTCCTCCAAGACCTTGCTTTCCCATCTCCTCTACCATCAAACTGCCTCTTCCTCCCTCAGACCTCTCCCTTCTCTCAGCCAGCCTAATCCTTCCTCCTCGCCCTTGTCTTTTGGCCGCAAAAGACCCTGGTGGATCCTTCTATCCACCTCGTTCTGGGGCGCACGCACATACATGCATGTATACATGAAGTTGCACTCATGCAAACGTACAGATCGGTGTACCCGCGGGACCTGCGTAGACACGCATGCGCAAGAGCTCGCTCCACCTATGTGCACACATGTGCCCCCAATACCAGGCCTTTATCCACACACATACCTGCTCCAAGGCCCATATGTGTACACTCACGTGTGCAGGCACACACCAGGTACCTCAGCCAGCCCTCGGCTTGAGTCCCAAGGGGTGCTTCTAGCCTGATGGGCAGCTCCTTGAGAAGTGCAGGATCCCCCGAGGAGATGCCTGGAGACTCCCACGCCACCGGGAGGGGCTGTGCAGGGGGAGGGGAGCCCCCACGTGGGCGCTGAGCTGTCTCCTCTCTCCAACCCTGGCCCAGGAGCTCAGGAGCCCTTCAGGTGCTGAGGTGCCCTACTGCGACCTGCCTCGATGTCCACCTGCCCCTGAGGACCCACTCAGCGCCTCAACCTCCGGCTGCCAGTCTGTGGTGGACCCAGGCCTCAGGCCAGGGCCCAAGAGGTGGGTAGAGTCCCAGGGCCCAGGAAGGGCTTCATGGGGTGGAATGCCCTCACCCTTCCCATTTGCACTCCTTCCCCAAGGCAGCACCTGTCTCTAATGGCTGCTGGCATGGGTCACGTGGTCAGTCCTCTAAACCTAGGCACAGGTGGGTGGTGGGCATGCTCCTTGGGCCCACAGGAAGAACTCAGATCACACCACCCTGTTTGCACTTCAGTGGCTGAGCCTCCCCTCCCCAGTCCTGGCTGTCTCTCCCAGGGGCCCTGCCCACCCCATAACCTCCCAAGACCGAGCTCAGCTTTGCCCCAGGGTGTGTGGCTGCTGTACACTCACCTTGCAGTGGGCATGGCCACAGCCTACTCACATTTCCTGGTTCCCTTTGCACAGCTTTAAAAGATTAAACAGTCCCTGCACCCAGGGGCACCTGCTGTCACCCACCTACGTGGGTGTGCACTGCTCCAGGCTCTGGGGTTCCTTCCACCCTCAGGCCTGAGTGGCAGTCCCCCTTTAAGGTCATGGTACCTTGGGAGGCCATGGTCTGAGAGTCTAGAAACCTGGGTTCCAGCTTCAGATCCATCCCTGATGGGTCTTGAGCAAGTTACTCTGTCTTTCTGTGTCTCAGTTTCCCTCTCTGTAAAATAAGAGGGATTGAATTAAATCAGCATTGTGCTGGGATCATTCATGTGCTCCTCACAGGTAGGCATATTAAAACAAACAAACAAACAAAAAAACAGCCTGGGTGCAGTGGCTCATGCCTGTAATTCCAGAACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCAGGAGGTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTACTAACTATACAAAAATTAGCCAGGCATGGTGGCAGGTGCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAACCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGTTGAGATCGTGCCATTACACTCCAGCCTGGGTGACACAGCGAGGCTCCGTCTCAAAAAAAAAAAAAACAACAAAAAAAAAAAACAAAAAAAAACCCACAAAAAAACGAAAAAAAAAACAAAGACAGCTTTGTTATCAAGTATGTTTCAGAAAGTCTGGGATAAATGAAGTTGAATAGCTTTCCTGCAGGACTTGTCAGAGCCTTTAGCTTGCCTGCGTGCATCGTGGCTTTTGGGTAACGGAAGTAGAGAAGTATGTCATTTGACTACAGAGCTCTTTTTTATGGCCATCACTTATTATCATCGTGTAGGCCAGTCTGTGGGTCACTCTTTGGGGATACTGCCAGCGCTAAGCCTTCTTGAGCCTGTGACTTCTTTTAAAGCAGAGCCTTCTCTGCAGCTCCCTCCCTCAGCATCTGGGCTAGTGAACCCGTCAATGCCTGTGGAGCCATGCTGCCTCTCACATCCTCGTTAGCCAAGCATGAGTCTGTCTTCTTAGACTTACTGAACTTGGGGTCAGTAGACTAAGACTAAGACTTAAAGTTGGGGCTGGGGCAATAGTTTTGGTTCATAACACAGCTCTGCCCTTTCCTATCTCGGTGACCTTGGCCAGTCTCTTGACCTCTCTGAGCCTCAGTGTCTTCCTCTGTGAAATGGGAATTATTATTATTATTATTATTTTGAGATGGCATCTTGCTCTATCACCCAAGCTGGAGTGCAATGACACGATGTTGGCTCACTGCAACCTCAGCCTCCCGAGTAGCTGGGATTCCAGGCATACACCACCACACCCGACTAATTTTTGTATTTTTATTTATTTATTTTTGAGATAGAGTCTCGTGCTGTCACCCAGGCTGGAGCGCAATGGCACGATCTTGGCTCACTGCAACCTCCACCTCCTGGCTTCAAGCGATTATCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTGCCACCACCATGC
|
AAAATTAGCCGGGCATGGTGTCGGGCACCTGTAATCACAGCTACTGGGGTGGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGCGAAGGTTGCAGTGAGCCGAGACTGCACCATTGCACTCTAACCTGGGCTATAAGAGCGAGACTCTGTCTCAAAAAAAAAGCCCTTTACAAATATTAACTCGTTTAATTCTCAGAACACCCCTAGGAGGTGGGTCCTGCTATCCTGCCGGTTTTGTAGATGAGGTAACTGAGGCACAGAGAGGATAAGTCACGTGGCCCAGGTCTTGGTCGCTTCTCAGCCTCCATTTCCGAGAGGAGAAAACAATGCTCCGAAAGGGGAAGTCATCGGCCTGAGGTCACCAGCCGGGAACCGGAGGAGCCAGGATGGGGCCCGAGGTCCATCTGAGGCCAGAGCCAGTGCTGACCCGCCAGACAGGAAATCAGAGCTGGGGACTGACCGTGGGGCCCACTCAAGTGGGTGGTGTGGGGTGGTGACGGGGGCTGGGGTGAAAGCCAGGATGAGGTGTCACATTAGGCTAGGGTTCCTGCTGGGCCTGGCGGGGCAGAGACCCCTGGTTGATGCCTGGCAAGTCTCTCCTCATTTCTGCTGTGCTGTCCCCTGGGTGGCCAAGGCGCCAGGCCCGGCTGTGGATCTGACACCTCCTGCTGCCGAGCTCTGATCAGAATCTGGCTGCAGGGCAGGGGGTGAAACTGAATCCCACCAGGCCTCCCCTGGCCTGGATGTCACGGCAGACATCCCAACCCCACTTCTTGGCACTGCCTGACCCCAGCAGTGGCCTTCTTGGAACCTGGAGAGCCTGTGCCCACCCTGTGGTGCCGACCAGGCTGCTGCCTTGGCCCTGGGCTCTGGGCTCCAGGGTCCCCAGGGATCCCAGGCCCAGGCTCTTGCCCCTCCCGGCTCTCAGGTGAGCTGCTGGGATCGGGTTCCTGCGGTTTCATGTCTTTCATTGTTCTTGGCTGGGGCCCGGCTTATGAAACTGTAATGAGGGGCCCCTGCTCCCGAAGCCGGCCCCTCTAAGGTTTCCACTGCCTCGGCGGCTGCTGCCACCACAGCCCGGAGTCGGGGCCTGGGAGGGCAGCAGTGTGGGGGCCTGAGCCGGAGCCCCCCGGGGACGAGGGTGCTGACAGTCGACAGCCACCACCACCACCAGAGCCCGCAGCCCAGGTAATCCGAGAGGAGGCGGGGCGCAGGGTGCCATGGCCGCTGTCTCCCACCACCAGGGGAGGGAACTGCCGCTCTCCAGAGGTGGGGAGGAATTGGGGGGGGCCCTGGAGGTGAGCAGCCGTTCCCCCCTGGTGAGCCCAGCACCAGACCAGCCTTCACAGGTGTGGCCTTGCCAAAGGTGGAGGGAGAGAGGAGTGGGCAGCTGGCTCTAGCCCCCGCCCTTTTCCTGGGGCCTTGACCCTCCAGCCCTGGATCCCCTGCCTCTCCTTTAGTGGGGCAAATCTCTTCTGTCCTCCAAGACCTTGCTTTCCCATCTCCTCTACCATCAAACTGCCTCTTCCTCCCTCAGACCTCTCCCTTCTCTCAGCCAGCCTAATCCTTCCTCCTCGCCCTTGTCTTTTGGCCGCAAAAGACCCTGGTGGATCCTTCTATCCACCTCGTTCTGGGGCGCACGCACATACATGCATGTATACATGAAGTTGCACTCATGCAAACGTACAGATCGGTGTACCCGCGGGACCTGCGTAGACACGCATGCGCAAGAGCTCGCTCCACCTATGTGCACACATGTGCCCCCAATACCAGGCCTTTATCCACACACATACCTGCTCCAAGGCCCATATGTGTACACTCACGTGTGCAGGCACACACCAGGTACCTCAGCCAGCCCTCGGCTTGAGTCCCAAGGGGTGCTTCTAGCCTGATGGGCAGCTCCTTGAGAAGTGCAGGATCCCCCGAGGAGATGCCTGGAGACTCCCACGCCACCGGGAGGGGCTGTGCAGGGGGAGGGGAGCCCCCACGTGGGCGCTGAGCTGTCTCCTCTCTCCAACCCTGGCCCAGGAGCTCAGGAGCCCTTCAGGTGCGACCTGCCTCGATGTCCACCTGCCCCTGAGGACCCACTCAGCGCCTCAACCTCCGGCTGCCAGTCTGTGGTGGACCCAGGCCTCAGGCCAGGGCCCAAGAGGTGGGTAGAGTCCCAGGGCCCAGGAAGGGCTTCATGGGGTGGAATGCCCTCACCCTTCCCATTTGCACTCCTTCCCCAAGGCAGCACCTGTCTCTAATGGCTGCTGGCATGGGTCACGTGGTCAGTCCTCTAAACCTAGGCACAGGTGGGTGGTGGGCATGCTCCTTGGGCCCACAGGAAGAACTCAGATCACACCACCCTGTTTGCACTTCAGTGGCTGAGCCTCCCCTCCCCAGTCCTGGCTGTCTCTCCCAGGGGCCCTGCCCACCCCATAACCTCCCAAGACCGAGCTCAGCTTTGCCCCAGGGTGTGTGGCTGCTGTACACTCACCTTGCAGTGGGCATGGCCACAGCCTACTCACATTTCCTGGTTCCCTTTGCACAGCTTTAAAAGATTAAACAGTCCCTGCACCCAGGGGCACCTGCTGTCACCCACCTACGTGGGTGTGCACTGCTCCAGGCTCTGGGGTTCCTTCCACCCTCAGGCCTGAGTGGCAGTCCCCCTTTAAGGTCATGGTACCTTGGGAGGCCATGGTCTGAGAGTCTAGAAACCTGGGTTCCAGCTTCAGATCCATCCCTGATGGGTCTTGAGCAAGTTACTCTGTCTTTCTGTGTCTCAGTTTCCCTCTCTGTAAAATAAGAGGGATTGAATTAAATCAGCATTGTGCTGGGATCATTCATGTGCTCCTCACAGGTAGGCATATTAAAACAAACAAACAAACAAAAAAACAGCCTGGGTGCAGTGGCTCATGCCTGTAATTCCAGAACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCAGGAGGTCGAGACCAGCCTGACCAACATGGCGAAACCCTGTCTCTACTAACTATACAAAAATTAGCCAGGCATGGTGGCAGGTGCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAACCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGTTGAGATCGTGCCATTACACTCCAGCCTGGGTGACACAGCGAGGCTCCGTCTCAAAAAAAAAAAAAACAACAAAAAAAAAAAACAAAAAAAAACCCACAAAAAAACGAAAAAAAAAACAAAGACAGCTTTGTTATCAAGTATGTTTCAGAAAGTCTGGGATAAATGAAGTTGAATAGCTTTCCTGCAGGACTTGTCAGAGCCTTTAGCTTGCCTGCGTGCATCGTGGCTTTTGGGTAACGGAAGTAGAGAAGTATGTCATTTGACTACAGAGCTCTTTTTTATGGCCATCACTTATTATCATCGTGTAGGCCAGTCTGTGGGTCACTCTTTGGGGATACTGCCAGCGCTAAGCCTTCTTGAGCCTGTGACTTCTTTTAAAGCAGAGCCTTCTCTGCAGCTCCCTCCCTCAGCATCTGGGCTAGTGAACCCGTCAATGCCTGTGGAGCCATGCTGCCTCTCACATCCTCGTTAGCCAAGCATGAGTCTGTCTTCTTAGACTTACTGAACTTGGGGTCAGTAGACTAAGACTAAGACTTAAAGTTGGGGCTGGGGCAATAGTTTTGGTTCATAACACAGCTCTGCCCTTTCCTATCTCGGTGACCTTGGCCAGTCTCTTGACCTCTCTGAGCCTCAGTGTCTTCCTCTGTGAAATGGGAATTATTATTATTATTATTATTTTGAGATGGCATCTTGCTCTATCACCCAAGCTGGAGTGCAATGACACGATGTTGGCTCACTGCAACCTCAGCCTCCCGAGTAGCTGGGATTCCAGGCATACACCACCACACCCGACTAATTTTTGTATTTTTATTTATTTATTTTTGAGATAGAGTCTCGTGCTGTCACCCAGGCTGGAGCGCAATGGCACGATCTTGGCTCACTGCAACCTCCACCTCCTGGCTTCAAGCGATTATCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGTGCCACCACCATGCNNNNNNNNNNNNNNNN
|
pathogenic
| 326,780 |
Chromosome 22, position 37723747, gene TRIOBP (TRIO and F-actin binding protein): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
TGGAACTCCTGAGCTCGAGTGATCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTAAGCCACCACACCCATAGTTGTGGCTCCTTTAAGATGAGGCCATGATACCCTTTACTCTTCACCTAAAGCAGTAGCCAAGGGACATGTACATAGGGGTGCTCAACACCTGCTTGGTGACCGAGGGATTGAGCGGGGTGGAGGGTGACACACCAAGGTCATGGCAACTCTGTCATGAGGCTAGGAGTTGCAAAGAGGGTCACTACTGAGGACAGTTACATTAATCCTTTAGGCCAGTGCTTCTGAAACTATAAGGTGTACAAATCACCAGACAGTTTTGTTAAATGCAGATCCAGAAGCAGTGCATCTGGGCTGGGACCTGAGATTCTGCATTTCTGGCAAACTCCCAGCTACCAGTTTATAAAAGGTTGTCCATCCCTGCACCTTTCCTATCCTCATGGCAGCCCTAGGAGAAGCCTCAGGGTAGGAACATTTGGATACAAAAAAACAGGGGCTTTCTAGAGCTGTCGCACAGGAAACAGGCTCATTAGAACCTGTCTCTACTAAAAACACAAAAATGAGCTGGGCATAGTGGTGCATGCCTGTAATCCCAACTACTTGGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGCTTAGGTTGCGGTGAGCCGAGATCGCGTCATTGCACTCTAGCCTGGGTGACAGAACGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGGTCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGAGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAACCTGGGAGGCGGAGGTTGCCATGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGACTCAAAAACAAAACAAAACAAGAAATGGGGGGAATTCCTTGGATTCTGATTGAAGGAAATAGAACTGGGAAGGGAAGACTGTCAGGTGGCTGCTGTTGGGCCCACCTCTCCCTCCCTGGGGTCACACAGGCCATTGTCAACACTTCTCTCCACAAATTTGCTTCTTCTCTGTCTTGTCCGTGGATCCCCAGACCCTGTGGCCTTCCAGTTCTTGAACCCATCTCTTGAGTGAGTCAGGGTCTCAATTTCAAATTCTTGACCTCAGCTTGAGAGAGGCATCCAAGCCCTTGTCTAATCAGCCTTGGTCAGAGAGGTGGAGTCACTTGGTACAGACAGTGAGACCTGTAGGAGGAGGGTGTGGGGTTTGCCCTAATCACTGGTCCTAAGGGACAAAGAAAGGTAGAATATGAGAGCTGCCTGGACCTCTCCCCTTACCTTGAGCCCCTCTCTTCTCTCTCCAGACACCGGCGGTGGGGGCCGGAGCGCAGGACAGCACTGGGCAAGGCTCCGGGGAGAAAGCGGGTTGTCCCTGGAGCGGCACCGGTCAACACTGACCCAGGCTTCCTCCATGACACCACACAGTGGACCTCGAAGCACCACGTCTCAGGCTTCTCCTGCCCAAAGGGACACTGCTCAGGCTGCCTCTACACGTGAAATCCCCAGAGCCTCCTCTCCCCATCGAATCACCCAAAGGGACACCTCCAGGGCCTCATCCACCCAACAGGAAATCTCCAGGGCCTCATCCACCCAACAGGAAACCTCCAGGGCCTCATCCACCCAAGAGGACACCCCTAGGGCCTCATCCACCCAAGAGGACACCCCCAGGGCCTCATCTACACAGTGGAACACCCCCAGAGCTTCCTCTCCCTCACGAAGCACCCAACTGGATAACCCCAGAACCTCTTCTACCCAGCAGGACAACCCCCAAACTTCTTTTCCTACTTGTACTCCCCAGCGGGAAAACCCCAGGACACCCTGTGTCCAGCAGGACGATCCCAGAGCCTCCTCTCCCAACAGAACCACTCAACGAGAGAATTCCAGAACATCCTGTGCCCAGCGGGACAATCCCAAAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTGCACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGATAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAACAGAACCACCCAACAAGACAGCCCCAGAACATCCTGTGCCCGACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCTACGGGACAATCCCAGAGCCTCCTCTCCCAGCAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCAACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCACCCAACAAGAGAACCCCAGAACATCCTGTGCCCGACGGGACAATCCCAGAGCCTCCTCTCGCAACAGAACCATCCAGCGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCTCAGAACATCCTGTACCCGACAGGACAATCCCAGGACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCTCAGAGCCTCCTCTCCCATCAGAGCCACCCAACAGGACAACCCCAGAACTTGTATTCAACAGAACATCCCCAGATCATCTTCTACCCAACAAGACAACCCTAAAACCTCTTGTACCAAACGAGATAACCTCAGACCCACTTGTACACAGCGGGACCGCACACAGTCCTTTTCCTTTCAACGAGACAACCCTGGAACCTCCTCATCTCAATGCTGCACCCAAAAGGAGAATCTGAGACCATCATCTCCCCACCGCTCCACTCAATGGAACAATCCCAGGAATTCATCTCCCCATCGTACTAACAAAGACATCCCCTGGGCCTCGTTTCCCCTCCGGCCAACTCAGAGTGATGGTCCCCGAACCTCTTCCCCATCTCGCTCCAAGCAAAGCGAGGTTCCCTGGGCATCCATCGCCCTCCGGCCAACCCAAGGTGACAGGCCTCAGACATCCTCTCCCAGCAGGCCAGCCCAGCATGACCCACCCCAGTCCTCCTTTGGCCCCACCCAGTACAACTTGCCATCCCGGGCCACCTCTTCCTCCCATAACCCAGGCCACCAGAGCACCTCCCGAACTTCCTCACCTGTGTACCCCGCTGCCTATGGGGCTCCCCTGACCTCTCCTGAGCCCTCCCAGCCTCCATGTGCTGTGTGCATTGGGCACCGGGATGCCCCTCGAGCCTCTTCGCCCCCTCGCTATTTGCAGCACGACCCCTTCCCCTTCTTCCCAGAGCCCCGCGCCCCTGAGAGTGAACCGCCCCACCACGAGCCTCCCTATATACCACCTGCTGTGTGCATTGGACACCGAGATGCCCCCCGGGCGTCCTCGCCCCCCCGCCACA
|
TGGAACTCCTGAGCTCGAGTGATCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTACAGGTGTAAGCCACCACACCCATAGTTGTGGCTCCTTTAAGATGAGGCCATGATACCCTTTACTCTTCACCTAAAGCAGTAGCCAAGGGACATGTACATAGGGGTGCTCAACACCTGCTTGGTGACCGAGGGATTGAGCGGGGTGGAGGGTGACACACCAAGGTCATGGCAACTCTGTCATGAGGCTAGGAGTTGCAAAGAGGGTCACTACTGAGGACAGTTACATTAATCCTTTAGGCCAGTGCTTCTGAAACTATAAGGTGTACAAATCACCAGACAGTTTTGTTAAATGCAGATCCAGAAGCAGTGCATCTGGGCTGGGACCTGAGATTCTGCATTTCTGGCAAACTCCCAGCTACCAGTTTATAAAAGGTTGTCCATCCCTGCACCTTTCCTATCCTCATGGCAGCCCTAGGAGAAGCCTCAGGGTAGGAACATTTGGATACAAAAAAACAGGGGCTTTCTAGAGCTGTCGCACAGGAAACAGGCTCATTAGAACCTGTCTCTACTAAAAACACAAAAATGAGCTGGGCATAGTGGTGCATGCCTGTAATCCCAACTACTTGGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGCTTAGGTTGCGGTGAGCCGAGATCGCGTCATTGCACTCTAGCCTGGGTGACAGAACGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGGTCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGAGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAACCTGGGAGGCGGAGGTTGCCATGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGACTCAAAAACAAAACAAAACAAGAAATGGGGGGAATTCCTTGGATTCTGATTGAAGGAAATAGAACTGGGAAGGGAAGACTGTCAGGTGGCTGCTGTTGGGCCCACCTCTCCCTCCCTGGGGTCACACAGGCCATTGTCAACACTTCTCTCCACAAATTTGCTTCTTCTCTGTCTTGTCCGTGGATCCCCAGACCCTGTGGCCTTCCAGTTCTTGAACCCATCTCTTGAGTGAGTCAGGGTCTCAATTTCAAATTCTTGACCTCAGCTTGAGAGAGGCATCCAAGCCCTTGTCTAATCAGCCTTGGTCAGAGAGGTGGAGTCACTTGGTACAGACAGTGAGACCTGTAGGAGGAGGGTGTGGGGTTTGCCCTAATCACTGGTCCTAAGGGACAAAGAAAGGTAGAATATGAGAGCTGCCTGGACCTCTCCCCTTACCTTGAGCCCCTCTCTTCTCTCTCCAGACACCGGCGGTGGGGGCCGGAGCGCAGGACAGCACTGGGCAAGGCTCCGGGGAGAAAGCGGGTTGTCCCTGGAGCGGCACCGGTCAACACTGACCCAGGCTTCCTCCATGACACCACACAGTGGACCTCGAAGCACCACGTCTCAGGCTTCTCCTGCCCAAAGGGACACTGCTCAGGCTGCCTCTACACGTGAAATCCCCAGAGCCTCCTCTCCCCATCGAATCACCCAAAGGGACACCTCCAGGGCCTCATCCACCCAACAGGAAATCTCCAGGGCCTCATCCACCCAACAGGAAACCTCCAGGGCCTCATCCACCCAAGAGGACACCCCTAGGGCCTCATCCACCCAAGAGGACACCCCCAGGGCCTCATCTACACAGTGGAACACCCCCAGAGCTTCCTCTCCCTCACGAAGCACCCAACTGGATAACCCCAGAACCTCTTCTACCCAGCAGGACAACCCCCAAACTTCTTTTCCTACTTGTACTCCCCAGCGGGAAAACCCCAGGACACCCTGTGTCCAGCAGGACGATCCCAGAGCCTCCTCTCCCAACAGAACCACTCGAGAGAATTCCAGAACATCCTGTGCCCAGCGGGACAATCCCAAAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTGCACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGATAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAACAGAACCACCCAACAAGACAGCCCCAGAACATCCTGTGCCCGACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCTACGGGACAATCCCAGAGCCTCCTCTCCCAGCAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCAACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCACCCAACAAGAGAACCCCAGAACATCCTGTGCCCGACGGGACAATCCCAGAGCCTCCTCTCGCAACAGAACCATCCAGCGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCTCAGAACATCCTGTACCCGACAGGACAATCCCAGGACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCTCAGAGCCTCCTCTCCCATCAGAGCCACCCAACAGGACAACCCCAGAACTTGTATTCAACAGAACATCCCCAGATCATCTTCTACCCAACAAGACAACCCTAAAACCTCTTGTACCAAACGAGATAACCTCAGACCCACTTGTACACAGCGGGACCGCACACAGTCCTTTTCCTTTCAACGAGACAACCCTGGAACCTCCTCATCTCAATGCTGCACCCAAAAGGAGAATCTGAGACCATCATCTCCCCACCGCTCCACTCAATGGAACAATCCCAGGAATTCATCTCCCCATCGTACTAACAAAGACATCCCCTGGGCCTCGTTTCCCCTCCGGCCAACTCAGAGTGATGGTCCCCGAACCTCTTCCCCATCTCGCTCCAAGCAAAGCGAGGTTCCCTGGGCATCCATCGCCCTCCGGCCAACCCAAGGTGACAGGCCTCAGACATCCTCTCCCAGCAGGCCAGCCCAGCATGACCCACCCCAGTCCTCCTTTGGCCCCACCCAGTACAACTTGCCATCCCGGGCCACCTCTTCCTCCCATAACCCAGGCCACCAGAGCACCTCCCGAACTTCCTCACCTGTGTACCCCGCTGCCTATGGGGCTCCCCTGACCTCTCCTGAGCCCTCCCAGCCTCCATGTGCTGTGTGCATTGGGCACCGGGATGCCCCTCGAGCCTCTTCGCCCCCTCGCTATTTGCAGCACGACCCCTTCCCCTTCTTCCCAGAGCCCCGCGCCCCTGAGAGTGAACCGCCCCACCACGAGCCTCCCTATATACCACCTGCTGTGTGCATTGGACACCGAGATGCCCCCCGGGCGTCCTCGCCCCCCCGCCACANNN
|
benign
| 326,802 |
Considering the genetic mutation at chromosome 22, position 37724168, impacting TRIOBP (TRIO and F-actin binding protein): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
benign
|
TATAAAAGGTTGTCCATCCCTGCACCTTTCCTATCCTCATGGCAGCCCTAGGAGAAGCCTCAGGGTAGGAACATTTGGATACAAAAAAACAGGGGCTTTCTAGAGCTGTCGCACAGGAAACAGGCTCATTAGAACCTGTCTCTACTAAAAACACAAAAATGAGCTGGGCATAGTGGTGCATGCCTGTAATCCCAACTACTTGGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGCTTAGGTTGCGGTGAGCCGAGATCGCGTCATTGCACTCTAGCCTGGGTGACAGAACGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGGTCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGAGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAACCTGGGAGGCGGAGGTTGCCATGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGACTCAAAAACAAAACAAAACAAGAAATGGGGGGAATTCCTTGGATTCTGATTGAAGGAAATAGAACTGGGAAGGGAAGACTGTCAGGTGGCTGCTGTTGGGCCCACCTCTCCCTCCCTGGGGTCACACAGGCCATTGTCAACACTTCTCTCCACAAATTTGCTTCTTCTCTGTCTTGTCCGTGGATCCCCAGACCCTGTGGCCTTCCAGTTCTTGAACCCATCTCTTGAGTGAGTCAGGGTCTCAATTTCAAATTCTTGACCTCAGCTTGAGAGAGGCATCCAAGCCCTTGTCTAATCAGCCTTGGTCAGAGAGGTGGAGTCACTTGGTACAGACAGTGAGACCTGTAGGAGGAGGGTGTGGGGTTTGCCCTAATCACTGGTCCTAAGGGACAAAGAAAGGTAGAATATGAGAGCTGCCTGGACCTCTCCCCTTACCTTGAGCCCCTCTCTTCTCTCTCCAGACACCGGCGGTGGGGGCCGGAGCGCAGGACAGCACTGGGCAAGGCTCCGGGGAGAAAGCGGGTTGTCCCTGGAGCGGCACCGGTCAACACTGACCCAGGCTTCCTCCATGACACCACACAGTGGACCTCGAAGCACCACGTCTCAGGCTTCTCCTGCCCAAAGGGACACTGCTCAGGCTGCCTCTACACGTGAAATCCCCAGAGCCTCCTCTCCCCATCGAATCACCCAAAGGGACACCTCCAGGGCCTCATCCACCCAACAGGAAATCTCCAGGGCCTCATCCACCCAACAGGAAACCTCCAGGGCCTCATCCACCCAAGAGGACACCCCTAGGGCCTCATCCACCCAAGAGGACACCCCCAGGGCCTCATCTACACAGTGGAACACCCCCAGAGCTTCCTCTCCCTCACGAAGCACCCAACTGGATAACCCCAGAACCTCTTCTACCCAGCAGGACAACCCCCAAACTTCTTTTCCTACTTGTACTCCCCAGCGGGAAAACCCCAGGACACCCTGTGTCCAGCAGGACGATCCCAGAGCCTCCTCTCCCAACAGAACCACTCAACGAGAGAATTCCAGAACATCCTGTGCCCAGCGGGACAATCCCAAAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTGCACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGATAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAACAGAACCACCCAACAAGACAGCCCCAGAACATCCTGTGCCCGACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCTACGGGACAATCCCAGAGCCTCCTCTCCCAGCAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCAACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCACCCAACAAGAGAACCCCAGAACATCCTGTGCCCGACGGGACAATCCCAGAGCCTCCTCTCGCAACAGAACCATCCAGCGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCTCAGAACATCCTGTACCCGACAGGACAATCCCAGGACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCTCAGAGCCTCCTCTCCCATCAGAGCCACCCAACAGGACAACCCCAGAACTTGTATTCAACAGAACATCCCCAGATCATCTTCTACCCAACAAGACAACCCTAAAACCTCTTGTACCAAACGAGATAACCTCAGACCCACTTGTACACAGCGGGACCGCACACAGTCCTTTTCCTTTCAACGAGACAACCCTGGAACCTCCTCATCTCAATGCTGCACCCAAAAGGAGAATCTGAGACCATCATCTCCCCACCGCTCCACTCAATGGAACAATCCCAGGAATTCATCTCCCCATCGTACTAACAAAGACATCCCCTGGGCCTCGTTTCCCCTCCGGCCAACTCAGAGTGATGGTCCCCGAACCTCTTCCCCATCTCGCTCCAAGCAAAGCGAGGTTCCCTGGGCATCCATCGCCCTCCGGCCAACCCAAGGTGACAGGCCTCAGACATCCTCTCCCAGCAGGCCAGCCCAGCATGACCCACCCCAGTCCTCCTTTGGCCCCACCCAGTACAACTTGCCATCCCGGGCCACCTCTTCCTCCCATAACCCAGGCCACCAGAGCACCTCCCGAACTTCCTCACCTGTGTACCCCGCTGCCTATGGGGCTCCCCTGACCTCTCCTGAGCCCTCCCAGCCTCCATGTGCTGTGTGCATTGGGCACCGGGATGCCCCTCGAGCCTCTTCGCCCCCTCGCTATTTGCAGCACGACCCCTTCCCCTTCTTCCCAGAGCCCCGCGCCCCTGAGAGTGAACCGCCCCACCACGAGCCTCCCTATATACCACCTGCTGTGTGCATTGGACACCGAGATGCCCCCCGGGCGTCCTCGCCCCCCCGCCACACCCAATTTGACCCCTTCCCCTTCCTCCCAGACACATCAGATGCCGAGCATCAGTGTCAGTCCCCCCAACACGAGCCCCTTCAGCTCCCTGCACCTGTGTGTATTGGGTACCGAGATGCACCCCGGGCCTCCTCCCCACCACGCCAGGCCCCAGAGCCTTCCCTCTTATTCCAGGACCTCCCCAGGGCCAGCACAGAGAGCCTTGTCCCTTCCATGGACTCTCTGCACGAGTGCCCCCACATCCCCACCCCTGTGTGCATTGGGCACCGGGATGCACCCTCCTTCTCATCCCCACCACGCCAGGCTCCTGAGCCATCCCTCTTCTTCCAGGATCCCCCTGGAACTAGTATGGAGAGCCTGGCCCCCTCCACTGACTCTCTGCATGGCTCCCCAGTGCTGATCCCCCAAGTGTGCATCGGGCA
|
TATAAAAGGTTGTCCATCCCTGCACCTTTCCTATCCTCATGGCAGCCCTAGGAGAAGCCTCAGGGTAGGAACATTTGGATACAAAAAAACAGGGGCTTTCTAGAGCTGTCGCACAGGAAACAGGCTCATTAGAACCTGTCTCTACTAAAAACACAAAAATGAGCTGGGCATAGTGGTGCATGCCTGTAATCCCAACTACTTGGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGCTTAGGTTGCGGTGAGCCGAGATCGCGTCATTGCACTCTAGCCTGGGTGACAGAACGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGGTCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGAGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAACCTGGGAGGCGGAGGTTGCCATGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGACTCAAAAACAAAACAAAACAAGAAATGGGGGGAATTCCTTGGATTCTGATTGAAGGAAATAGAACTGGGAAGGGAAGACTGTCAGGTGGCTGCTGTTGGGCCCACCTCTCCCTCCCTGGGGTCACACAGGCCATTGTCAACACTTCTCTCCACAAATTTGCTTCTTCTCTGTCTTGTCCGTGGATCCCCAGACCCTGTGGCCTTCCAGTTCTTGAACCCATCTCTTGAGTGAGTCAGGGTCTCAATTTCAAATTCTTGACCTCAGCTTGAGAGAGGCATCCAAGCCCTTGTCTAATCAGCCTTGGTCAGAGAGGTGGAGTCACTTGGTACAGACAGTGAGACCTGTAGGAGGAGGGTGTGGGGTTTGCCCTAATCACTGGTCCTAAGGGACAAAGAAAGGTAGAATATGAGAGCTGCCTGGACCTCTCCCCTTACCTTGAGCCCCTCTCTTCTCTCTCCAGACACCGGCGGTGGGGGCCGGAGCGCAGGACAGCACTGGGCAAGGCTCCGGGGAGAAAGCGGGTTGTCCCTGGAGCGGCACCGGTCAACACTGACCCAGGCTTCCTCCATGACACCACACAGTGGACCTCGAAGCACCACGTCTCAGGCTTCTCCTGCCCAAAGGGACACTGCTCAGGCTGCCTCTACACGTGAAATCCCCAGAGCCTCCTCTCCCCATCGAATCACCCAAAGGGACACCTCCAGGGCCTCATCCACCCAACAGGAAATCTCCAGGGCCTCATCCACCCAACAGGAAACCTCCAGGGCCTCATCCACCCAAGAGGACACCCCTAGGGCCTCATCCACCCAAGAGGACACCCCCAGGGCCTCATCTACACAGTGGAACACCCCCAGAGCTTCCTCTCCCTCACGAAGCACCCAACTGGATAACCCCAGAACCTCTTCTACCCAGCAGGACAACCCCCAAACTTCTTTTCCTACTTGTACTCCCCAGCGGGAAAACCCCAGGACACCCTGTGTCCAGCAGGACGATCCCAGAGCCTCCTCTCCCAACAGAACCACTCAACGAGAGAATTCCAGAACATCCTGTGCCCAGCGGGACAATCCCAAAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCTCCCAATAGAGCTGCACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGATAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAACAGAACCACCCAACAAGACAGCCCCAGAACATCCTGTGCCCGACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCTACGGGACAATCCCAGAGCCTCCTCTCCCAGCAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCAACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCACCCAACAAGAGAACCCCAGAACATCCTGTGCCCGACGGGACAATCCCAGAGCCTCCTCTCGCAACAGAACCATCCAGCGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCTCAGAACATCCTGTACCCGACAGGACAATCCCAGGACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCTCAGAGCCTCCTCTCCCATCAGAGCCACCCAACAGGACAACCCCAGAACTTGTATTCAACAGAACATCCCCAGATCATCTTCTACCCAACAAGACAACCCTAAAACCTCTTGTACCAAACGAGATAACCTCAGACCCACTTGTACACAGCGGGACCGCACACAGTCCTTTTCCTTTCAACGAGACAACCCTGGAACCTCCTCATCTCAATGCTGCACCCAAAAGGAGAATCTGAGACCATCATCTCCCCACCGCTCCACTCAATGGAACAATCCCAGGAATTCATCTCCCCATCGTACTAACAAAGACATCCCCTGGGCCTCGTTTCCCCTCCGGCCAACTCAGAGTGATGGTCCCCGAACCTCTTCCCCATCTCGCTCCAAGCAAAGCGAGGTTCCCTGGGCATCCATCGCCCTCCGGCCAACCCAAGGTGACAGGCCTCAGACATCCTCTCCCAGCAGGCCAGCCCAGCATGACCCACCCCAGTCCTCCTTTGGCCCCACCCAGTACAACTTGCCATCCCGGGCCACCTCTTCCTCCCATAACCCAGGCCACCAGAGCACCTCCCGAACTTCCTCACCTGTGTACCCCGCTGCCTATGGGGCTCCCCTGACCTCTCCTGAGCCCTCCCAGCCTCCATGTGCTGTGTGCATTGGGCACCGGGATGCCCCTCGAGCCTCTTCGCCCCCTCGCTATTTGCAGCACGACCCCTTCCCCTTCTTCCCAGAGCCCCGCGCCCCTGAGAGTGAACCGCCCCACCACGAGCCTCCCTATATACCACCTGCTGTGTGCATTGGACACCGAGATGCCCCCCGGGCGTCCTCGCCCCCCCGCCACACCCAATTTGACCCCTTCCCCTTCCTCCCAGACACATCAGATGCCGAGCATCAGTGTCAGTCCCCCCAACACGAGCCCCTTCAGCTCCCTGCACCTGTGTGTATTGGGTACCGAGATGCACCCCGGGCCTCCTCCCCACCACGCCAGGCCCCAGAGCCTTCCCTCTTATTCCAGGACCTCCCCAGGGCCAGCACAGAGAGCCTTGTCCCTTCCATGGACTCTCTGCACGAGTGCCCCCACATCCCCACCCCTGTGTGCATTGGGCACCGGGATGCACCCTCCTTCTCATCCCCACCACGCCAGGCTCCTGAGCCATCCCTCTTCTTCCAGGATCCCCCTGGAACTAGTATGGAGAGCCTGGCCCCCTCCACTGACTCTCTGCATGGCTCCCCAGTGCTGATCCCCCAAGTGTGCATCGGGCANNN
|
benign
| 326,811 |
Evaluate the clinical significance of the mutation at chromosome 22, position 37725764 in gene TRIOBP (TRIO and F-actin binding protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_28']
|
ATCCCAGAGCCTCCTCTCCCAACAGAACCACTCAACGAGAGAATTCCAGAACATCCTGTGCCCAGCGGGACAATCCCAAAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTGCACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGATAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAACAGAACCACCCAACAAGACAGCCCCAGAACATCCTGTGCCCGACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCTACGGGACAATCCCAGAGCCTCCTCTCCCAGCAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCAACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCACCCAACAAGAGAACCCCAGAACATCCTGTGCCCGACGGGACAATCCCAGAGCCTCCTCTCGCAACAGAACCATCCAGCGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCTCAGAACATCCTGTACCCGACAGGACAATCCCAGGACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCTCAGAGCCTCCTCTCCCATCAGAGCCACCCAACAGGACAACCCCAGAACTTGTATTCAACAGAACATCCCCAGATCATCTTCTACCCAACAAGACAACCCTAAAACCTCTTGTACCAAACGAGATAACCTCAGACCCACTTGTACACAGCGGGACCGCACACAGTCCTTTTCCTTTCAACGAGACAACCCTGGAACCTCCTCATCTCAATGCTGCACCCAAAAGGAGAATCTGAGACCATCATCTCCCCACCGCTCCACTCAATGGAACAATCCCAGGAATTCATCTCCCCATCGTACTAACAAAGACATCCCCTGGGCCTCGTTTCCCCTCCGGCCAACTCAGAGTGATGGTCCCCGAACCTCTTCCCCATCTCGCTCCAAGCAAAGCGAGGTTCCCTGGGCATCCATCGCCCTCCGGCCAACCCAAGGTGACAGGCCTCAGACATCCTCTCCCAGCAGGCCAGCCCAGCATGACCCACCCCAGTCCTCCTTTGGCCCCACCCAGTACAACTTGCCATCCCGGGCCACCTCTTCCTCCCATAACCCAGGCCACCAGAGCACCTCCCGAACTTCCTCACCTGTGTACCCCGCTGCCTATGGGGCTCCCCTGACCTCTCCTGAGCCCTCCCAGCCTCCATGTGCTGTGTGCATTGGGCACCGGGATGCCCCTCGAGCCTCTTCGCCCCCTCGCTATTTGCAGCACGACCCCTTCCCCTTCTTCCCAGAGCCCCGCGCCCCTGAGAGTGAACCGCCCCACCACGAGCCTCCCTATATACCACCTGCTGTGTGCATTGGACACCGAGATGCCCCCCGGGCGTCCTCGCCCCCCCGCCACACCCAATTTGACCCCTTCCCCTTCCTCCCAGACACATCAGATGCCGAGCATCAGTGTCAGTCCCCCCAACACGAGCCCCTTCAGCTCCCTGCACCTGTGTGTATTGGGTACCGAGATGCACCCCGGGCCTCCTCCCCACCACGCCAGGCCCCAGAGCCTTCCCTCTTATTCCAGGACCTCCCCAGGGCCAGCACAGAGAGCCTTGTCCCTTCCATGGACTCTCTGCACGAGTGCCCCCACATCCCCACCCCTGTGTGCATTGGGCACCGGGATGCACCCTCCTTCTCATCCCCACCACGCCAGGCTCCTGAGCCATCCCTCTTCTTCCAGGATCCCCCTGGAACTAGTATGGAGAGCCTGGCCCCCTCCACTGACTCTCTGCATGGCTCCCCAGTGCTGATCCCCCAAGTGTGCATCGGGCACCGGGATGCACCCCGAGCCTCCTCCCCACCCCGCCACCCACCCAGTGACCTAGCGTTCCTGGCACCCTCACCTTCACCGGGCAGCTCTGGGGGCTCCCGGGGCTCAGCGCCTCCCGGGGAGACCAGGCACAACTTGGAGCGGGAGGAGTACACTGTGCTGGCCGACCTGCCCCCACCCAGGAGGCTGGCCCAGAGACAGCCAGGGCCCCAGGCGCAGTGCAGCAGCGGGGGCCGCACCCACAGCCCTGGCCGTGCAGAGGTGGAGCGCCTCTTCGGGCAAGAGCGCAGGTGAGCCCGGGGGTGGGGTCAGCCAGGTGGGCTGGGGAGGAGGCTCGGCAGCAGGACAGGTGAAGGGTTAGGGTGCCAAAAGAAAGTGTTCAAATCCCCCTGGCTTGCCATTTACCGGCTGTGTGACCTTGGGCAAATCGCTCCATTTCTCTGTTTCTGCATATTGGGAGTTTTCTGTTTTGTGTGTGTGTGTGGTTAAGTGATGTCATGCACAGCCCAGTGGTTAACAGCAAAGACTGCAGTCAGGAGGGCTGAGTCCAAATCCTGGGTCAAAGCCACATGTCAACTCGTATGACCTGATATAGTGAGTTAACCTACCTGAGCCTCAGTTTCCTCATCTGTAAGGGAGGGGAACATGAGCACATTCATTCAAATAAGGGTGAACTGTCTTTTTATTTTTTATTTTTTGTTTTTTTTTTTGAGGTGGAGTTTTGCTCTTGTTGCCCAGGCCGGAGCGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCGGCTAATTTTTTTGTATTTTTACTAGAGACGGGGTTTCGCCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCGCAAAGTGCTAGGATTACAGGAGTGAGCCACCGTGCCCGGCCAAAATGAGAGTGAACTCTCAAACCCTTTGATCCAGACTCATGGGTTTTTTTTTTTTTTCTTCCGTGCATGAGGGAGAAGAAGAAAGTACCCATGATTTTTTCCTGCCTTGGCAAAGAAAACTCATGGGTCCCTATGCATTTCAGAAAACAGTTATGTCAATTTAAAATGTATGGCCAGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGACAGCAGCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTACCACTGCACTCCAACCTGGGTGACAGAGTGAGACTCCATCTAAAAATAAAAATAAAATAAAAATGTATGGCCAGAGCTACCTATTTTAAGAAAGAAAGCTCACAGAATTATGGATTTTTAGCAGTCAAACATCCTGGGACACCTGAAGTCCAGGTGTCTTTTGAGTCTCCTTGGTCAGCAGCACTG
|
ATCCCAGAGCCTCCTCTCCCAACAGAACCACTCAACGAGAGAATTCCAGAACATCCTGTGCCCAGCGGGACAATCCCAAAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTGCACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGATAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAACAGAACCACCCAACAAGACAGCCCCAGAACATCCTGTGCCCGACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCTACGGGACAATCCCAGAGCCTCCTCTCCCAGCAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCAACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCACCCAACAAGAGAACCCCAGAACATCCTGTGCCCGACGGGACAATCCCAGAGCCTCCTCTCGCAACAGAACCATCCAGCGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCTCAGAACATCCTGTACCCGACAGGACAATCCCAGGACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCTCAGAGCCTCCTCTCCCATCAGAGCCACCCAACAGGACAACCCCAGAACTTGTATTCAACAGAACATCCCCAGATCATCTTCTACCCAACAAGACAACCCTAAAACCTCTTGTACCAAACGAGATAACCTCAGACCCACTTGTACACAGCGGGACCGCACACAGTCCTTTTCCTTTCAACGAGACAACCCTGGAACCTCCTCATCTCAATGCTGCACCCAAAAGGAGAATCTGAGACCATCATCTCCCCACCGCTCCACTCAATGGAACAATCCCAGGAATTCATCTCCCCATCGTACTAACAAAGACATCCCCTGGGCCTCGTTTCCCCTCCGGCCAACTCAGAGTGATGGTCCCCGAACCTCTTCCCCATCTCGCTCCAAGCAAAGCGAGGTTCCCTGGGCATCCATCGCCCTCCGGCCAACCCAAGGTGACAGGCCTCAGACATCCTCTCCCAGCAGGCCAGCCCAGCATGACCCACCCCAGTCCTCCTTTGGCCCCACCCAGTACAACTTGCCATCCCGGGCCACCTCTTCCTCCCATAACCCAGGCCACCAGAGCACCTCCCGAACTTCCTCACCTGTGTACCCCGCTGCCTATGGGGCTCCCCTGACCTCTCCTGAGCCCTCCCAGCCTCCATGTGCTGTGTGCATTGGGCACCGGGATGCCCCTCGAGCCTCTTCGCCCCCTCGCTATTTGCAGCACGACCCCTTCCCCTTCTTCCCAGAGCCCCGCGCCCCTGAGAGTGAACCGCCCCACCACGAGCCTCCCTATATACCACCTGCTGTGTGCATTGGACACCGAGATGCCCCCCCGGGCGTCCTCGCCCCCCCGCCACACCCAATTTGACCCCTTCCCCTTCCTCCCAGACACATCAGATGCCGAGCATCAGTGTCAGTCCCCCCAACACGAGCCCCTTCAGCTCCCTGCACCTGTGTGTATTGGGTACCGAGATGCACCCCGGGCCTCCTCCCCACCACGCCAGGCCCCAGAGCCTTCCCTCTTATTCCAGGACCTCCCCAGGGCCAGCACAGAGAGCCTTGTCCCTTCCATGGACTCTCTGCACGAGTGCCCCCACATCCCCACCCCTGTGTGCATTGGGCACCGGGATGCACCCTCCTTCTCATCCCCACCACGCCAGGCTCCTGAGCCATCCCTCTTCTTCCAGGATCCCCCTGGAACTAGTATGGAGAGCCTGGCCCCCTCCACTGACTCTCTGCATGGCTCCCCAGTGCTGATCCCCCAAGTGTGCATCGGGCACCGGGATGCACCCCGAGCCTCCTCCCCACCCCGCCACCCACCCAGTGACCTAGCGTTCCTGGCACCCTCACCTTCACCGGGCAGCTCTGGGGGCTCCCGGGGCTCAGCGCCTCCCGGGGAGACCAGGCACAACTTGGAGCGGGAGGAGTACACTGTGCTGGCCGACCTGCCCCCACCCAGGAGGCTGGCCCAGAGACAGCCAGGGCCCCAGGCGCAGTGCAGCAGCGGGGGCCGCACCCACAGCCCTGGCCGTGCAGAGGTGGAGCGCCTCTTCGGGCAAGAGCGCAGGTGAGCCCGGGGGTGGGGTCAGCCAGGTGGGCTGGGGAGGAGGCTCGGCAGCAGGACAGGTGAAGGGTTAGGGTGCCAAAAGAAAGTGTTCAAATCCCCCTGGCTTGCCATTTACCGGCTGTGTGACCTTGGGCAAATCGCTCCATTTCTCTGTTTCTGCATATTGGGAGTTTTCTGTTTTGTGTGTGTGTGTGGTTAAGTGATGTCATGCACAGCCCAGTGGTTAACAGCAAAGACTGCAGTCAGGAGGGCTGAGTCCAAATCCTGGGTCAAAGCCACATGTCAACTCGTATGACCTGATATAGTGAGTTAACCTACCTGAGCCTCAGTTTCCTCATCTGTAAGGGAGGGGAACATGAGCACATTCATTCAAATAAGGGTGAACTGTCTTTTTATTTTTTATTTTTTGTTTTTTTTTTTGAGGTGGAGTTTTGCTCTTGTTGCCCAGGCCGGAGCGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCGGCTAATTTTTTTGTATTTTTACTAGAGACGGGGTTTCGCCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCGCAAAGTGCTAGGATTACAGGAGTGAGCCACCGTGCCCGGCCAAAATGAGAGTGAACTCTCAAACCCTTTGATCCAGACTCATGGGTTTTTTTTTTTTTTCTTCCGTGCATGAGGGAGAAGAAGAAAGTACCCATGATTTTTTCCTGCCTTGGCAAAGAAAACTCATGGGTCCCTATGCATTTCAGAAAACAGTTATGTCAATTTAAAATGTATGGCCAGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGACAGCAGCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTACCACTGCACTCCAACCTGGGTGACAGAGTGAGACTCCATCTAAAAATAAAAATAAAATAAAAATGTATGGCCAGAGCTACCTATTTTAAGAAAGAAAGCTCACAGAATTATGGATTTTTAGCAGTCAAACATCCTGGGACACCTGAAGTCCAGGTGTCTTTTGAGTCTCCTTGGTCAGCAGCACT
|
pathogenic
| 326,838 |
For chromosome 22, position 37725781, gene TRIOBP (TRIO and F-actin binding protein): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_28', 'Rare_genetic_deafness']
|
CCCAACAGAACCACTCAACGAGAGAATTCCAGAACATCCTGTGCCCAGCGGGACAATCCCAAAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTGCACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGATAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAACAGAACCACCCAACAAGACAGCCCCAGAACATCCTGTGCCCGACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCTACGGGACAATCCCAGAGCCTCCTCTCCCAGCAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCAACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCACCCAACAAGAGAACCCCAGAACATCCTGTGCCCGACGGGACAATCCCAGAGCCTCCTCTCGCAACAGAACCATCCAGCGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCTCAGAACATCCTGTACCCGACAGGACAATCCCAGGACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCTCAGAGCCTCCTCTCCCATCAGAGCCACCCAACAGGACAACCCCAGAACTTGTATTCAACAGAACATCCCCAGATCATCTTCTACCCAACAAGACAACCCTAAAACCTCTTGTACCAAACGAGATAACCTCAGACCCACTTGTACACAGCGGGACCGCACACAGTCCTTTTCCTTTCAACGAGACAACCCTGGAACCTCCTCATCTCAATGCTGCACCCAAAAGGAGAATCTGAGACCATCATCTCCCCACCGCTCCACTCAATGGAACAATCCCAGGAATTCATCTCCCCATCGTACTAACAAAGACATCCCCTGGGCCTCGTTTCCCCTCCGGCCAACTCAGAGTGATGGTCCCCGAACCTCTTCCCCATCTCGCTCCAAGCAAAGCGAGGTTCCCTGGGCATCCATCGCCCTCCGGCCAACCCAAGGTGACAGGCCTCAGACATCCTCTCCCAGCAGGCCAGCCCAGCATGACCCACCCCAGTCCTCCTTTGGCCCCACCCAGTACAACTTGCCATCCCGGGCCACCTCTTCCTCCCATAACCCAGGCCACCAGAGCACCTCCCGAACTTCCTCACCTGTGTACCCCGCTGCCTATGGGGCTCCCCTGACCTCTCCTGAGCCCTCCCAGCCTCCATGTGCTGTGTGCATTGGGCACCGGGATGCCCCTCGAGCCTCTTCGCCCCCTCGCTATTTGCAGCACGACCCCTTCCCCTTCTTCCCAGAGCCCCGCGCCCCTGAGAGTGAACCGCCCCACCACGAGCCTCCCTATATACCACCTGCTGTGTGCATTGGACACCGAGATGCCCCCCGGGCGTCCTCGCCCCCCCGCCACACCCAATTTGACCCCTTCCCCTTCCTCCCAGACACATCAGATGCCGAGCATCAGTGTCAGTCCCCCCAACACGAGCCCCTTCAGCTCCCTGCACCTGTGTGTATTGGGTACCGAGATGCACCCCGGGCCTCCTCCCCACCACGCCAGGCCCCAGAGCCTTCCCTCTTATTCCAGGACCTCCCCAGGGCCAGCACAGAGAGCCTTGTCCCTTCCATGGACTCTCTGCACGAGTGCCCCCACATCCCCACCCCTGTGTGCATTGGGCACCGGGATGCACCCTCCTTCTCATCCCCACCACGCCAGGCTCCTGAGCCATCCCTCTTCTTCCAGGATCCCCCTGGAACTAGTATGGAGAGCCTGGCCCCCTCCACTGACTCTCTGCATGGCTCCCCAGTGCTGATCCCCCAAGTGTGCATCGGGCACCGGGATGCACCCCGAGCCTCCTCCCCACCCCGCCACCCACCCAGTGACCTAGCGTTCCTGGCACCCTCACCTTCACCGGGCAGCTCTGGGGGCTCCCGGGGCTCAGCGCCTCCCGGGGAGACCAGGCACAACTTGGAGCGGGAGGAGTACACTGTGCTGGCCGACCTGCCCCCACCCAGGAGGCTGGCCCAGAGACAGCCAGGGCCCCAGGCGCAGTGCAGCAGCGGGGGCCGCACCCACAGCCCTGGCCGTGCAGAGGTGGAGCGCCTCTTCGGGCAAGAGCGCAGGTGAGCCCGGGGGTGGGGTCAGCCAGGTGGGCTGGGGAGGAGGCTCGGCAGCAGGACAGGTGAAGGGTTAGGGTGCCAAAAGAAAGTGTTCAAATCCCCCTGGCTTGCCATTTACCGGCTGTGTGACCTTGGGCAAATCGCTCCATTTCTCTGTTTCTGCATATTGGGAGTTTTCTGTTTTGTGTGTGTGTGTGGTTAAGTGATGTCATGCACAGCCCAGTGGTTAACAGCAAAGACTGCAGTCAGGAGGGCTGAGTCCAAATCCTGGGTCAAAGCCACATGTCAACTCGTATGACCTGATATAGTGAGTTAACCTACCTGAGCCTCAGTTTCCTCATCTGTAAGGGAGGGGAACATGAGCACATTCATTCAAATAAGGGTGAACTGTCTTTTTATTTTTTATTTTTTGTTTTTTTTTTTGAGGTGGAGTTTTGCTCTTGTTGCCCAGGCCGGAGCGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCGGCTAATTTTTTTGTATTTTTACTAGAGACGGGGTTTCGCCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCGCAAAGTGCTAGGATTACAGGAGTGAGCCACCGTGCCCGGCCAAAATGAGAGTGAACTCTCAAACCCTTTGATCCAGACTCATGGGTTTTTTTTTTTTTTCTTCCGTGCATGAGGGAGAAGAAGAAAGTACCCATGATTTTTTCCTGCCTTGGCAAAGAAAACTCATGGGTCCCTATGCATTTCAGAAAACAGTTATGTCAATTTAAAATGTATGGCCAGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGACAGCAGCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTACCACTGCACTCCAACCTGGGTGACAGAGTGAGACTCCATCTAAAAATAAAAATAAAATAAAAATGTATGGCCAGAGCTACCTATTTTAAGAAAGAAAGCTCACAGAATTATGGATTTTTAGCAGTCAAACATCCTGGGACACCTGAAGTCCAGGTGTCTTTTGAGTCTCCTTGGTCAGCAGCACTGGCCCCCTGGAAGGGGAG
|
CCCAACAGAACCACTCAACGAGAGAATTCCAGAACATCCTGTGCCCAGCGGGACAATCCCAAAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTGCACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGATAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAACAGAACCACCCAACAAGACAGCCCCAGAACATCCTGTGCCCGACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCTACGGGACAATCCCAGAGCCTCCTCTCCCAGCAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCAACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCACCCAACAAGAGAACCCCAGAACATCCTGTGCCCGACGGGACAATCCCAGAGCCTCCTCTCGCAACAGAACCATCCAGCGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCTCAGAACATCCTGTACCCGACAGGACAATCCCAGGACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCTCAGAGCCTCCTCTCCCATCAGAGCCACCCAACAGGACAACCCCAGAACTTGTATTCAACAGAACATCCCCAGATCATCTTCTACCCAACAAGACAACCCTAAAACCTCTTGTACCAAACGAGATAACCTCAGACCCACTTGTACACAGCGGGACCGCACACAGTCCTTTTCCTTTCAACGAGACAACCCTGGAACCTCCTCATCTCAATGCTGCACCCAAAAGGAGAATCTGAGACCATCATCTCCCCACCGCTCCACTCAATGGAACAATCCCAGGAATTCATCTCCCCATCGTACTAACAAAGACATCCCCTGGGCCTCGTTTCCCCTCCGGCCAACTCAGAGTGATGGTCCCCGAACCTCTTCCCCATCTCGCTCCAAGCAAAGCGAGGTTCCCTGGGCATCCATCGCCCTCCGGCCAACCCAAGGTGACAGGCCTCAGACATCCTCTCCCAGCAGGCCAGCCCAGCATGACCCACCCCAGTCCTCCTTTGGCCCCACCCAGTACAACTTGCCATCCCGGGCCACCTCTTCCTCCCATAACCCAGGCCACCAGAGCACCTCCCGAACTTCCTCACCTGTGTACCCCGCTGCCTATGGGGCTCCCCTGACCTCTCCTGAGCCCTCCCAGCCTCCATGTGCTGTGTGCATTGGGCACCGGGATGCCCCTCGAGCCTCTTCGCCCCCTCGCTATTTGCAGCACGACCCCTTCCCCTTCTTCCCAGAGCCCCGCGCCCCTGAGAGTGAACCGCCCCACCACGAGCCTCCCTATATACCACCTGCTGTGTGCATTGGACACCGAGATGCCCCCCGGGCGTCCTCGCCCCCCCCGCCACACCCAATTTGACCCCTTCCCCTTCCTCCCAGACACATCAGATGCCGAGCATCAGTGTCAGTCCCCCCAACACGAGCCCCTTCAGCTCCCTGCACCTGTGTGTATTGGGTACCGAGATGCACCCCGGGCCTCCTCCCCACCACGCCAGGCCCCAGAGCCTTCCCTCTTATTCCAGGACCTCCCCAGGGCCAGCACAGAGAGCCTTGTCCCTTCCATGGACTCTCTGCACGAGTGCCCCCACATCCCCACCCCTGTGTGCATTGGGCACCGGGATGCACCCTCCTTCTCATCCCCACCACGCCAGGCTCCTGAGCCATCCCTCTTCTTCCAGGATCCCCCTGGAACTAGTATGGAGAGCCTGGCCCCCTCCACTGACTCTCTGCATGGCTCCCCAGTGCTGATCCCCCAAGTGTGCATCGGGCACCGGGATGCACCCCGAGCCTCCTCCCCACCCCGCCACCCACCCAGTGACCTAGCGTTCCTGGCACCCTCACCTTCACCGGGCAGCTCTGGGGGCTCCCGGGGCTCAGCGCCTCCCGGGGAGACCAGGCACAACTTGGAGCGGGAGGAGTACACTGTGCTGGCCGACCTGCCCCCACCCAGGAGGCTGGCCCAGAGACAGCCAGGGCCCCAGGCGCAGTGCAGCAGCGGGGGCCGCACCCACAGCCCTGGCCGTGCAGAGGTGGAGCGCCTCTTCGGGCAAGAGCGCAGGTGAGCCCGGGGGTGGGGTCAGCCAGGTGGGCTGGGGAGGAGGCTCGGCAGCAGGACAGGTGAAGGGTTAGGGTGCCAAAAGAAAGTGTTCAAATCCCCCTGGCTTGCCATTTACCGGCTGTGTGACCTTGGGCAAATCGCTCCATTTCTCTGTTTCTGCATATTGGGAGTTTTCTGTTTTGTGTGTGTGTGTGGTTAAGTGATGTCATGCACAGCCCAGTGGTTAACAGCAAAGACTGCAGTCAGGAGGGCTGAGTCCAAATCCTGGGTCAAAGCCACATGTCAACTCGTATGACCTGATATAGTGAGTTAACCTACCTGAGCCTCAGTTTCCTCATCTGTAAGGGAGGGGAACATGAGCACATTCATTCAAATAAGGGTGAACTGTCTTTTTATTTTTTATTTTTTGTTTTTTTTTTTGAGGTGGAGTTTTGCTCTTGTTGCCCAGGCCGGAGCGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCGGCTAATTTTTTTGTATTTTTACTAGAGACGGGGTTTCGCCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCGCAAAGTGCTAGGATTACAGGAGTGAGCCACCGTGCCCGGCCAAAATGAGAGTGAACTCTCAAACCCTTTGATCCAGACTCATGGGTTTTTTTTTTTTTTCTTCCGTGCATGAGGGAGAAGAAGAAAGTACCCATGATTTTTTCCTGCCTTGGCAAAGAAAACTCATGGGTCCCTATGCATTTCAGAAAACAGTTATGTCAATTTAAAATGTATGGCCAGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGACAGCAGCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTACCACTGCACTCCAACCTGGGTGACAGAGTGAGACTCCATCTAAAAATAAAAATAAAATAAAAATGTATGGCCAGAGCTACCTATTTTAAGAAAGAAAGCTCACAGAATTATGGATTTTTAGCAGTCAAACATCCTGGGACACCTGAAGTCCAGGTGTCTTTTGAGTCTCCTTGGTCAGCAGCACTGGCCCCCTGGAAGGGGA
|
pathogenic
| 326,839 |
Does the chromosome 22 mutation at position 37726011 within gene TRIOBP (TRIO and F-actin binding protein) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_28', 'Hearing_loss,_autosomal_recessive']
|
CAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTGCACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGATAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAACAGAACCACCCAACAAGACAGCCCCAGAACATCCTGTGCCCGACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCTACGGGACAATCCCAGAGCCTCCTCTCCCAGCAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCAACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCACCCAACAAGAGAACCCCAGAACATCCTGTGCCCGACGGGACAATCCCAGAGCCTCCTCTCGCAACAGAACCATCCAGCGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCTCAGAACATCCTGTACCCGACAGGACAATCCCAGGACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCTCAGAGCCTCCTCTCCCATCAGAGCCACCCAACAGGACAACCCCAGAACTTGTATTCAACAGAACATCCCCAGATCATCTTCTACCCAACAAGACAACCCTAAAACCTCTTGTACCAAACGAGATAACCTCAGACCCACTTGTACACAGCGGGACCGCACACAGTCCTTTTCCTTTCAACGAGACAACCCTGGAACCTCCTCATCTCAATGCTGCACCCAAAAGGAGAATCTGAGACCATCATCTCCCCACCGCTCCACTCAATGGAACAATCCCAGGAATTCATCTCCCCATCGTACTAACAAAGACATCCCCTGGGCCTCGTTTCCCCTCCGGCCAACTCAGAGTGATGGTCCCCGAACCTCTTCCCCATCTCGCTCCAAGCAAAGCGAGGTTCCCTGGGCATCCATCGCCCTCCGGCCAACCCAAGGTGACAGGCCTCAGACATCCTCTCCCAGCAGGCCAGCCCAGCATGACCCACCCCAGTCCTCCTTTGGCCCCACCCAGTACAACTTGCCATCCCGGGCCACCTCTTCCTCCCATAACCCAGGCCACCAGAGCACCTCCCGAACTTCCTCACCTGTGTACCCCGCTGCCTATGGGGCTCCCCTGACCTCTCCTGAGCCCTCCCAGCCTCCATGTGCTGTGTGCATTGGGCACCGGGATGCCCCTCGAGCCTCTTCGCCCCCTCGCTATTTGCAGCACGACCCCTTCCCCTTCTTCCCAGAGCCCCGCGCCCCTGAGAGTGAACCGCCCCACCACGAGCCTCCCTATATACCACCTGCTGTGTGCATTGGACACCGAGATGCCCCCCGGGCGTCCTCGCCCCCCCGCCACACCCAATTTGACCCCTTCCCCTTCCTCCCAGACACATCAGATGCCGAGCATCAGTGTCAGTCCCCCCAACACGAGCCCCTTCAGCTCCCTGCACCTGTGTGTATTGGGTACCGAGATGCACCCCGGGCCTCCTCCCCACCACGCCAGGCCCCAGAGCCTTCCCTCTTATTCCAGGACCTCCCCAGGGCCAGCACAGAGAGCCTTGTCCCTTCCATGGACTCTCTGCACGAGTGCCCCCACATCCCCACCCCTGTGTGCATTGGGCACCGGGATGCACCCTCCTTCTCATCCCCACCACGCCAGGCTCCTGAGCCATCCCTCTTCTTCCAGGATCCCCCTGGAACTAGTATGGAGAGCCTGGCCCCCTCCACTGACTCTCTGCATGGCTCCCCAGTGCTGATCCCCCAAGTGTGCATCGGGCACCGGGATGCACCCCGAGCCTCCTCCCCACCCCGCCACCCACCCAGTGACCTAGCGTTCCTGGCACCCTCACCTTCACCGGGCAGCTCTGGGGGCTCCCGGGGCTCAGCGCCTCCCGGGGAGACCAGGCACAACTTGGAGCGGGAGGAGTACACTGTGCTGGCCGACCTGCCCCCACCCAGGAGGCTGGCCCAGAGACAGCCAGGGCCCCAGGCGCAGTGCAGCAGCGGGGGCCGCACCCACAGCCCTGGCCGTGCAGAGGTGGAGCGCCTCTTCGGGCAAGAGCGCAGGTGAGCCCGGGGGTGGGGTCAGCCAGGTGGGCTGGGGAGGAGGCTCGGCAGCAGGACAGGTGAAGGGTTAGGGTGCCAAAAGAAAGTGTTCAAATCCCCCTGGCTTGCCATTTACCGGCTGTGTGACCTTGGGCAAATCGCTCCATTTCTCTGTTTCTGCATATTGGGAGTTTTCTGTTTTGTGTGTGTGTGTGGTTAAGTGATGTCATGCACAGCCCAGTGGTTAACAGCAAAGACTGCAGTCAGGAGGGCTGAGTCCAAATCCTGGGTCAAAGCCACATGTCAACTCGTATGACCTGATATAGTGAGTTAACCTACCTGAGCCTCAGTTTCCTCATCTGTAAGGGAGGGGAACATGAGCACATTCATTCAAATAAGGGTGAACTGTCTTTTTATTTTTTATTTTTTGTTTTTTTTTTTGAGGTGGAGTTTTGCTCTTGTTGCCCAGGCCGGAGCGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCGGCTAATTTTTTTGTATTTTTACTAGAGACGGGGTTTCGCCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCGCAAAGTGCTAGGATTACAGGAGTGAGCCACCGTGCCCGGCCAAAATGAGAGTGAACTCTCAAACCCTTTGATCCAGACTCATGGGTTTTTTTTTTTTTTCTTCCGTGCATGAGGGAGAAGAAGAAAGTACCCATGATTTTTTCCTGCCTTGGCAAAGAAAACTCATGGGTCCCTATGCATTTCAGAAAACAGTTATGTCAATTTAAAATGTATGGCCAGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGACAGCAGCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTACCACTGCACTCCAACCTGGGTGACAGAGTGAGACTCCATCTAAAAATAAAAATAAAATAAAAATGTATGGCCAGAGCTACCTATTTTAAGAAAGAAAGCTCACAGAATTATGGATTTTTAGCAGTCAAACATCCTGGGACACCTGAAGTCCAGGTGTCTTTTGAGTCTCCTTGGTCAGCAGCACTGGCCCCCTGGAAGGGGAGCATTTCCTCCTGATCAGGCTGAGGTTTCTCTCCCCAGAAGTTCCAGCCCTCGAGTTTTCAAGAATCAGAGCTAGAATTCCATTAGTTAGGGTCAAGAGAACAACAGCAACAAAAAGCAGTCTGGAAGTCTCAAAACTTTCCATGTATATAATTCAACGAATTTTTAGTTTATTTACCAAGTTGTCCAACCATTGCCACAATCTAACTTTAGAACATTTTCATCACCCTAA
|
CAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAGTAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGCGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTGCACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAATAGAGCTACACGAGACAACCCCACAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCAGAACCTCCTCTCCCAATAGAGCCACACGAGATAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCCAACAGAACCACCCAACAAGACAGCCCCAGAACATCCTGTGCCCGACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCTACGGGACAATCCCAGAGCCTCCTCTCCCAGCAGAACCATCCAACAAGAGAACCCCAGAACATCCTGTGCCCAACGGGACGATCCCAGAGCCTCCTCTCCTAACAGAACCACCCAACAAGAGAACCCCAGAACATCCTGTGCCCGACGGGACAATCCCAGAGCCTCCTCTCGCAACAGAACCATCCAGCGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCCCAGAGCCTCCTCTCCTAACAGAACCATCCAACAAGAGAACCTCAGAACATCCTGTACCCGACAGGACAATCCCAGGACCTCCTCTCCCAATAGAGCCACACGAGACAACCCCAGAACATCCTGTGCCCAGCGGGACAATCTCAGAGCCTCCTCTCCCATCAGAGCCACCCAACAGGACAACCCCAGAACTTGTATTCAACAGAACATCCCCAGATCATCTTCTACCCAACAAGACAACCCTAAAACCTCTTGTACCAAACGAGATAACCTCAGACCCACTTGTACACAGCGGGACCGCACACAGTCCTTTTCCTTTCAACGAGACAACCCTGGAACCTCCTCATCTCAATGCTGCACCCAAAAGGAGAATCTGAGACCATCATCTCCCCACCGCTCCACTCAATGGAACAATCCCAGGAATTCATCTCCCCATCGTACTAACAAAGACATCCCCTGGGCCTCGTTTCCCCTCCGGCCAACTCAGAGTGATGGTCCCCGAACCTCTTCCCCATCTCGCTCCAAGCAAAGCGAGGTTCCCTGGGCATCCATCGCCCTCCGGCCAACCCAAGGTGACAGGCCTCAGACATCCTCTCCCAGCAGGCCAGCCCAGCATGACCCACCCCAGTCCTCCTTTGGCCCCACCCAGTACAACTTGCCATCCCGGGCCACCTCTTCCTCCCATAACCCAGGCCACCAGAGCACCTCCCGAACTTCCTCACCTGTGTACCCCGCTGCCTATGGGGCTCCCCTGACCTCTCCTGAGCCCTCCCAGCCTCCATGTGCTGTGTGCATTGGGCACCGGGATGCCCCTCGAGCCTCTTCGCCCCCTCGCTATTTGCAGCACGACCCCTTCCCCTTCTTCCCAGAGCCCCGCGCCCCTGAGAGTGAACCGCCCCACCACGAGCCTCCCTATATACCACCTGCTGTGTGCATTGGACACCGAGATGCCCCCCGGGCGTCCTCGCCCCCCCGCCACACCCAATTTGACCCCTTCCCCTTCCTCCCAGACACATCAGATGCCGAGCATCAGTGTCAGTCCCCCCAACACGAGCCCCTTCAGCTCCCTGCACCTGTGTGTATTGGGTACCGAGATGCACCCCGGGCCTCCTCCCCACCACGCCAGGCCCCAGAGCCTTCCCTCTTATTCCAGGACCTCCCCAGGGCCAGCACAGAGAGCCTTGTCCCTTCCATGGACTCTGCACGAGTGCCCCCACATCCCCACCCCTGTGTGCATTGGGCACCGGGATGCACCCTCCTTCTCATCCCCACCACGCCAGGCTCCTGAGCCATCCCTCTTCTTCCAGGATCCCCCTGGAACTAGTATGGAGAGCCTGGCCCCCTCCACTGACTCTCTGCATGGCTCCCCAGTGCTGATCCCCCAAGTGTGCATCGGGCACCGGGATGCACCCCGAGCCTCCTCCCCACCCCGCCACCCACCCAGTGACCTAGCGTTCCTGGCACCCTCACCTTCACCGGGCAGCTCTGGGGGCTCCCGGGGCTCAGCGCCTCCCGGGGAGACCAGGCACAACTTGGAGCGGGAGGAGTACACTGTGCTGGCCGACCTGCCCCCACCCAGGAGGCTGGCCCAGAGACAGCCAGGGCCCCAGGCGCAGTGCAGCAGCGGGGGCCGCACCCACAGCCCTGGCCGTGCAGAGGTGGAGCGCCTCTTCGGGCAAGAGCGCAGGTGAGCCCGGGGGTGGGGTCAGCCAGGTGGGCTGGGGAGGAGGCTCGGCAGCAGGACAGGTGAAGGGTTAGGGTGCCAAAAGAAAGTGTTCAAATCCCCCTGGCTTGCCATTTACCGGCTGTGTGACCTTGGGCAAATCGCTCCATTTCTCTGTTTCTGCATATTGGGAGTTTTCTGTTTTGTGTGTGTGTGTGGTTAAGTGATGTCATGCACAGCCCAGTGGTTAACAGCAAAGACTGCAGTCAGGAGGGCTGAGTCCAAATCCTGGGTCAAAGCCACATGTCAACTCGTATGACCTGATATAGTGAGTTAACCTACCTGAGCCTCAGTTTCCTCATCTGTAAGGGAGGGGAACATGAGCACATTCATTCAAATAAGGGTGAACTGTCTTTTTATTTTTTATTTTTTGTTTTTTTTTTTGAGGTGGAGTTTTGCTCTTGTTGCCCAGGCCGGAGCGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCGGCTAATTTTTTTGTATTTTTACTAGAGACGGGGTTTCGCCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCGCAAAGTGCTAGGATTACAGGAGTGAGCCACCGTGCCCGGCCAAAATGAGAGTGAACTCTCAAACCCTTTGATCCAGACTCATGGGTTTTTTTTTTTTTTCTTCCGTGCATGAGGGAGAAGAAGAAAGTACCCATGATTTTTTCCTGCCTTGGCAAAGAAAACTCATGGGTCCCTATGCATTTCAGAAAACAGTTATGTCAATTTAAAATGTATGGCCAGGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTGGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGACAGCAGCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTACCACTGCACTCCAACCTGGGTGACAGAGTGAGACTCCATCTAAAAATAAAAATAAAATAAAAATGTATGGCCAGAGCTACCTATTTTAAGAAAGAAAGCTCACAGAATTATGGATTTTTAGCAGTCAAACATCCTGGGACACCTGAAGTCCAGGTGTCTTTTGAGTCTCCTTGGTCAGCAGCACTGGCCCCCTGGAAGGGGAGCATTTCCTCCTGATCAGGCTGAGGTTTCTCTCCCCAGAAGTTCCAGCCCTCGAGTTTTCAAGAATCAGAGCTAGAATTCCATTAGTTAGGGTCAAGAGAACAACAGCAACAAAAAGCAGTCTGGAAGTCTCAAAACTTTCCATGTATATAATTCAACGAATTTTTAGTTTATTTACCAAGTTGTCCAACCATTGCCACAATCTAACTTTAGAACATTTTCATCACCCTAANN
|
pathogenic
| 326,845 |
The mutation impacting TRIOBP (TRIO and F-actin binding protein) on chromosome 22 at position 37734654: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_28']
|
GAGCTCTTTTGCCAACAGCTAGGATGGCCTGGAGTTTTCAAGGCTAAGCGCTGGGATTCTGTTGGTTAACAGTGATGGGAGGGAAAAAGGAAAAGAAATCCAAAATTTACAATATGGACAGGAAAAGGCAGAAAGAATGGAACACGGGGGCACACAGCAGTCTGGCTCTGTCGTCCCACCTCGTGGGCTGCGATCATGATACAAGTGCTTGGCCCCTGGAACATAAGAAGCACTCAATAAATGCTTTGTCATAATGATTATGTGTGCCCAGTGCCTGGTACACAGTAGGTGCTCAATAAATCTTAATTCCCGCAAAGACCAGTCTAACCTTTGTCTGGGGGTGGCTCTTGGGCTGCTGGTGGGGTGGTGGTTAGTCATAGGAAGTACTGGATGAGACAGGAGAGGGCCATGGCCAGGGCCAGATCCCCCTCCCCACCCAACCGCCTCTACTCCCCACTTTTCTCGTCATGTTCGCAAGAGCCTCATGAGGCAGAATAGAGCAGTGTTAACCATCCCCATTTTTCAGAAGGGGAAACTAAGGCCCTGAGAGTCATCCTCACTTAGGGCCCTTCAACGAGCTTGCAGTGGGTCCCTGGCTGTCCCACATCTCCTCCTGTTGGAGGTGGGAGCAGAGGGGCTGGGGTGCTGGGAGTGGGACAGTCCCTCAGAGGAGTGGCTGCATTTGCTCATAGGAAGTCCGAGGCAGCGGGGGCCTTCCAGGCCCAGGACGAGGGACGGTCACAGCAGCCCAGCCAAGGCCAGAGCCAACTTCTCCGAAGACAGTCCAGCCCTGCCCCCAGCAGGCAGGTGAGCACTGCCAGCTGTCTGGGGCCCCGCACCCCAAGGGGCGGCCACTGCCTCTTCCCTCCCGCTAGAAGCCAGGCAGGGGGCTTGGACAGGAAGGTCCTCTATGAAAGGGTCGGAGTCCAATCATGGGGATCCAGCTCTCCCCTCTCCCCAACGGCCAGCAGCTCTTGGCAAAATGCACAAGACCCCACATTAATCCTTTGAAGATAGCCCCTCTCCCACGCTATCCCCTTCCTTTACTAAGCACTGCTGTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCACTGTCTCCCAGGCTGGAGTGCAGTGGGACAATATTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTACCTCAGCCTCCCAAATAGCTGGGATTACAGGCGTGTGCCACCACACCCAACTAATTTTCGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCACTCCTGACGTCAAGTGATCCGCCCACCTTGGCCTCCCAAGGTGCTGGGATTACAGGCGTGAACCACGGCACCTGGCCAATACTGCTGTCTTGAGCAGATTTCAGGGAAAGCCTTGAAGCAAGAATCTGGCTCTAAGGGCCCTCTCTTTCAGGGTAATTTGTATCTTTAACCAAACCCAGAGGGCTAGGCCCGCCTCAGTGGAATGGGGTATTGGTGGTGGAGGTTCTGGCACCTGATAGCCCAAGTTGGAATCAGTATCTTTGAGAGGGGTGAGAAGCCAAGAACGGGGGCAGGTCTTTGCAGATCTTTTTCTGGAACTGAGGAAAGCGGGTGAAAGGGAGGAGCTGACCCCGGAGGGGTGGGGCAGAGACCCTGTGTACTTTTTGGCCTGCTTTGATTCAGGCTGCTGTGTGGACACAGCCTTGACTCTCTGGGGGCCTAAGAAAGGCAGAGCTGGCAGCCAGGTCCCCAGAGAGAGAGCCTCACCTACCCCCTCACCTCATCCCCAGGTGACCATGCTCCCTGCCAAACAGGCAGAACTGACCCGGCGGAGCCAAGCAGAGCCCCCTCATCCTTGGAGTCCTGAGAAGAGACCTGAGGGAGATCGGCAGCTCCAGGGGTCCCCGCTGCCCCCCAGGACATCAGCCAGGACCCCTGAGAGGGAGCTGCGGACACAGAGACCTCTGGAGAGTGGCCAAGCAGGCCCAAGACAGCCTCTGGGGGTGTGGCAGAGTCAGGAGGAACCGCCAGGGTCCCAGGGCCCTCATAGACACCTAGAAAGGAGCTGGAGCAGCCAGGAGGGAGGCCTGGGCCCTGGGGGCTGGTGGGGATGTGGAGAGCCCAGCCTGGGGGCAGCCAAAGCCCCGGAGGGAGCATGGGGGGGCACTTCCAGGGAGTACAAGGAGAGCTGGGGGCAGCCAGAGGCCTGGGAGGAGAAGCCCACTCATGAGCTCCCCAGAGAACTAGGAAAGAGAAGCCCACTCACGAGCCCCCCTGAGAACTGGGGAGGCCCCGCAGAGTCCTCACAATCCTGGCACTCTGGGACACCCACTGCTGTGGGCTGGGGGGCAGAGGGAGCGTGTCCATACCCGCGTGGCTCTGAGAGGCGACCCGAGCTTGACTGGAGGGATCTGCTTGGCCTTCTCCGGGCACCAGGAGAGGGGGTCTGGGCCCGTGTCCCCAGCCTGGACTGGGAGGGCCTCTTGGAGCTCCTGCAGGCCAGGCTGCCCCGCAAGGACCCAGCTGGACACAGGGATGACCTGGCCAGGGCTTTAGGGCCAGAGCTGGGTCCCCCAGGCACAAACGATGTCCCTGAGCAGGAGTCACACAGCCAGCCAGAAGGCTGGGCCGAGGCCACCCCAGTCAATGGACACAGCCCCGCACTGCAGTCCCAGAGCCCGGTCCAGCTGCCCAGCCCTGCCTGCACCTCCACCCAGTGGCCAAAGATCAAAGTGACAAGAGGACCAGCGACCGCAACTCTGGCAGGCCTGGAGCAGACGGGCCCCCTGGGGAGCAGGAGCACTGCGAAGGGCCCCAGCTTGCCAGAGCTGCAGGTAAGGAGGTTTCCACCCTCCCAAGGGTAGCCAGAAAGTCAGCCCCACTCAGCCAAGTCTCCTTGGAAAAGCCTCCCCTTGGAGTAGCCTAAGCTCCTGCATCCCCCTCCAGGCTCAGACCTCAGCCTCCCTGCTGACCACAACCCATCCCGATCACCAAACTGGCCCAACAATGATGATGAGCAACACAGTTTTAAGCGTTTATGGGCCAAGCCCTGATCTGAATGTTTGACGTGTGCTTTTCCCATTTAGTCTCCTTAGCAACCAGGTGAGAAATACACTATTTACAGATAAGGAAACTGATGCGCAGGGTGAAGCCACTTGCTGGTGGGGCATGGGCAAAACCCAGGTCTGCTCAGTGCAGACCACACTGAGGCCTCAAGCAAGATGCTCTGGCCAGGGCCTATTCCCCTCCTGGCTCCACCATACCTGGTTTATGTTGTGTCTGGTGGCACACACCTGACCCCACCTGGGACTGTAGCCAGTGTGGGCATGCCCCTTCCCCTGGTGGTACTCAGGTACCTGAGTCCAGGACAGCCTCGCTTACCCTCTCTGGCCCCTACAGCTCCTCTCAGACACAGAGAAGAGGGTGCATCAATGCTCACTGGGTTCAGCTAGCTGCCAAGACAGGCTGCTTAAATGAGGGTCGTGTGCAAAGTGGGCCCAGCGCCGGGCACACAGTAGGTGCTCGCCCTTCCCCTGCTTCACTGGTGCTTTGGTGCTGCCTTGAAGCCCAGAACATTCTTCATCTGAAGATGGTGGGCAGGGAGGGTCTTGGAGGCCAGAATCCTGCACCCTGGCAATAGCTCATTGGGAGGACGGCATGTGGTTTTGAACACCAGCCTCTCTCTCTCTCTGTAAGATGGACCAACCACTTCTCTGACGGGCAGCGCTGGGGTGCCGTGGGGGTTCCTGCTTGTTTCTCCAAAGCCTCCTCATCTCCTAGATGCAAAGTCCAACGCCACCTGCCCCAGGATGAGCAGGGCTTCCAGGCATCAGGGTGCACCCCGTGCTGGGCCCAGGGCCTTGCCATATGTGCCTCAAGTGGATAGGAGGCAGCTGCCACTTGACAGATGGGGAAACTGAGGCTCAGACTCCTTAGGCATTTGCTGGGGGTCACACATGCATAGGTCGTGAGAAATGAGATCAAAGCATCCACTCCAAAGTTTGTGCTTTTATTTTTATTTATTTATTTACTTATTGAGACGGAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAATTGCACAATCTCAGCTC
|
GAGCTCTTTTGCCAACAGCTAGGATGGCCTGGAGTTTTCAAGGCTAAGCGCTGGGATTCTGTTGGTTAACAGTGATGGGAGGGAAAAAGGAAAAGAAATCCAAAATTTACAATATGGACAGGAAAAGGCAGAAAGAATGGAACACGGGGGCACACAGCAGTCTGGCTCTGTCGTCCCACCTCGTGGGCTGCGATCATGATACAAGTGCTTGGCCCCTGGAACATAAGAAGCACTCAATAAATGCTTTGTCATAATGATTATGTGTGCCCAGTGCCTGGTACACAGTAGGTGCTCAATAAATCTTAATTCCCGCAAAGACCAGTCTAACCTTTGTCTGGGGGTGGCTCTTGGGCTGCTGGTGGGGTGGTGGTTAGTCATAGGAAGTACTGGATGAGACAGGAGAGGGCCATGGCCAGGGCCAGATCCCCCTCCCCACCCAACCGCCTCTACTCCCCACTTTTCTCGTCATGTTCGCAAGAGCCTCATGAGGCAGAATAGAGCAGTGTTAACCATCCCCATTTTTCAGAAGGGGAAACTAAGGCCCTGAGAGTCATCCTCACTTAGGGCCCTTCAACGAGCTTGCAGTGGGTCCCTGGCTGTCCCACATCTCCTCCTGTTGGAGGTGGGAGCAGAGGGGCTGGGGTGCTGGGAGTGGGACAGTCCCTCAGAGGAGTGGCTGCATTTGCTCATAGGAAGTCCGAGGCAGCGGGGGCCTTCCAGGCCCAGGACGAGGGACGGTCACAGCAGCCCAGCCAAGGCCAGAGCCAACTTCTCCGAAGACAGTCCAGCCCTGCCCCCAGCAGGCAGGTGAGCACTGCCAGCTGTCTGGGGCCCCGCACCCCAAGGGGCGGCCACTGCCTCTTCCCTCCCGCTAGAAGCCAGGCAGGGGGCTTGGACAGGAAGGTCCTCTATGAAAGGGTCGGAGTCCAATCATGGGGATCCAGCTCTCCCCTCTCCCCAACGGCCAGCAGCTCTTGGCAAAATGCACAAGACCCCACATTAATCCTTTGAAGATAGCCCCTCTCCCACGCTATCCCCTTCCTTTACTAAGCACTGCTGTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCACTGTCTCCCAGGCTGGAGTGCAGTGGGACAATATTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTACCTCAGCCTCCCAAATAGCTGGGATTACAGGCGTGTGCCACCACACCCAACTAATTTTCGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCACTCCTGACGTCAAGTGATCCGCCCACCTTGGCCTCCCAAGGTGCTGGGATTACAGGCGTGAACCACGGCACCTGGCCAATACTGCTGTCTTGAGCAGATTTCAGGGAAAGCCTTGAAGCAAGAATCTGGCTCTAAGGGCCCTCTCTTTCAGGGTAATTTGTATCTTTAACCAAACCCAGAGGGCTAGGCCCGCCTCAGTGGAATGGGGTATTGGTGGTGGAGGTTCTGGCACCTGATAGCCCAAGTTGGAATCAGTATCTTTGAGAGGGGTGAGAAGCCAAGAACGGGGGCAGGTCTTTGCAGATCTTTTTCTGGAACTGAGGAAAGCGGGTGAAAGGGAGGAGCTGACCCCGGAGGGGTGGGGCAGAGACCCTGTGTACTTTTTGGCCTGCTTTGATTCAGGCTGCTGTGTGGACACAGCCTTGACTCTCTGGGGGCCTAAGAAAGGCAGAGCTGGCAGCCAGGTCCCCAGAGAGAGAGCCTCACCTACCCCCTCACCTCATCCCCAGGTGACCATGCTCCCTGCCAAACAGGCAGAACTGACCCGGCGGAGCCAAGCAGAGCCCCCTCATCCTTGGAGTCCTGAGAAGAGACCTGAGGGAGATCGGCAGCTCCAGGGGTCCCCGCTGCCCCCCAGGACATCAGCCAGGACCCCTGAGAGGGAGCTGCGGACACAGAGACCTCTGGAGAGTGGCCAAGCAGGCCCAAGACAGCCTCTGGGGGTGTGGCAGAGTCAGGAGGAACCGCCAGGGTCCCAGGGCCCTCAGACACCTAGAAAGGAGCTGGAGCAGCCAGGAGGGAGGCCTGGGCCCTGGGGGCTGGTGGGGATGTGGAGAGCCCAGCCTGGGGGCAGCCAAAGCCCCGGAGGGAGCATGGGGGGGCACTTCCAGGGAGTACAAGGAGAGCTGGGGGCAGCCAGAGGCCTGGGAGGAGAAGCCCACTCATGAGCTCCCCAGAGAACTAGGAAAGAGAAGCCCACTCACGAGCCCCCCTGAGAACTGGGGAGGCCCCGCAGAGTCCTCACAATCCTGGCACTCTGGGACACCCACTGCTGTGGGCTGGGGGGCAGAGGGAGCGTGTCCATACCCGCGTGGCTCTGAGAGGCGACCCGAGCTTGACTGGAGGGATCTGCTTGGCCTTCTCCGGGCACCAGGAGAGGGGGTCTGGGCCCGTGTCCCCAGCCTGGACTGGGAGGGCCTCTTGGAGCTCCTGCAGGCCAGGCTGCCCCGCAAGGACCCAGCTGGACACAGGGATGACCTGGCCAGGGCTTTAGGGCCAGAGCTGGGTCCCCCAGGCACAAACGATGTCCCTGAGCAGGAGTCACACAGCCAGCCAGAAGGCTGGGCCGAGGCCACCCCAGTCAATGGACACAGCCCCGCACTGCAGTCCCAGAGCCCGGTCCAGCTGCCCAGCCCTGCCTGCACCTCCACCCAGTGGCCAAAGATCAAAGTGACAAGAGGACCAGCGACCGCAACTCTGGCAGGCCTGGAGCAGACGGGCCCCCTGGGGAGCAGGAGCACTGCGAAGGGCCCCAGCTTGCCAGAGCTGCAGGTAAGGAGGTTTCCACCCTCCCAAGGGTAGCCAGAAAGTCAGCCCCACTCAGCCAAGTCTCCTTGGAAAAGCCTCCCCTTGGAGTAGCCTAAGCTCCTGCATCCCCCTCCAGGCTCAGACCTCAGCCTCCCTGCTGACCACAACCCATCCCGATCACCAAACTGGCCCAACAATGATGATGAGCAACACAGTTTTAAGCGTTTATGGGCCAAGCCCTGATCTGAATGTTTGACGTGTGCTTTTCCCATTTAGTCTCCTTAGCAACCAGGTGAGAAATACACTATTTACAGATAAGGAAACTGATGCGCAGGGTGAAGCCACTTGCTGGTGGGGCATGGGCAAAACCCAGGTCTGCTCAGTGCAGACCACACTGAGGCCTCAAGCAAGATGCTCTGGCCAGGGCCTATTCCCCTCCTGGCTCCACCATACCTGGTTTATGTTGTGTCTGGTGGCACACACCTGACCCCACCTGGGACTGTAGCCAGTGTGGGCATGCCCCTTCCCCTGGTGGTACTCAGGTACCTGAGTCCAGGACAGCCTCGCTTACCCTCTCTGGCCCCTACAGCTCCTCTCAGACACAGAGAAGAGGGTGCATCAATGCTCACTGGGTTCAGCTAGCTGCCAAGACAGGCTGCTTAAATGAGGGTCGTGTGCAAAGTGGGCCCAGCGCCGGGCACACAGTAGGTGCTCGCCCTTCCCCTGCTTCACTGGTGCTTTGGTGCTGCCTTGAAGCCCAGAACATTCTTCATCTGAAGATGGTGGGCAGGGAGGGTCTTGGAGGCCAGAATCCTGCACCCTGGCAATAGCTCATTGGGAGGACGGCATGTGGTTTTGAACACCAGCCTCTCTCTCTCTCTGTAAGATGGACCAACCACTTCTCTGACGGGCAGCGCTGGGGTGCCGTGGGGGTTCCTGCTTGTTTCTCCAAAGCCTCCTCATCTCCTAGATGCAAAGTCCAACGCCACCTGCCCCAGGATGAGCAGGGCTTCCAGGCATCAGGGTGCACCCCGTGCTGGGCCCAGGGCCTTGCCATATGTGCCTCAAGTGGATAGGAGGCAGCTGCCACTTGACAGATGGGGAAACTGAGGCTCAGACTCCTTAGGCATTTGCTGGGGGTCACACATGCATAGGTCGTGAGAAATGAGATCAAAGCATCCACTCCAAAGTTTGTGCTTTTATTTTTATTTATTTATTTACTTATTGAGACGGAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAATTGCACAATCTCAGCTCNN
|
pathogenic
| 326,864 |
For chromosome 22, position 37734765, gene TRIOBP (TRIO and F-actin binding protein): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic
|
ATATGGACAGGAAAAGGCAGAAAGAATGGAACACGGGGGCACACAGCAGTCTGGCTCTGTCGTCCCACCTCGTGGGCTGCGATCATGATACAAGTGCTTGGCCCCTGGAACATAAGAAGCACTCAATAAATGCTTTGTCATAATGATTATGTGTGCCCAGTGCCTGGTACACAGTAGGTGCTCAATAAATCTTAATTCCCGCAAAGACCAGTCTAACCTTTGTCTGGGGGTGGCTCTTGGGCTGCTGGTGGGGTGGTGGTTAGTCATAGGAAGTACTGGATGAGACAGGAGAGGGCCATGGCCAGGGCCAGATCCCCCTCCCCACCCAACCGCCTCTACTCCCCACTTTTCTCGTCATGTTCGCAAGAGCCTCATGAGGCAGAATAGAGCAGTGTTAACCATCCCCATTTTTCAGAAGGGGAAACTAAGGCCCTGAGAGTCATCCTCACTTAGGGCCCTTCAACGAGCTTGCAGTGGGTCCCTGGCTGTCCCACATCTCCTCCTGTTGGAGGTGGGAGCAGAGGGGCTGGGGTGCTGGGAGTGGGACAGTCCCTCAGAGGAGTGGCTGCATTTGCTCATAGGAAGTCCGAGGCAGCGGGGGCCTTCCAGGCCCAGGACGAGGGACGGTCACAGCAGCCCAGCCAAGGCCAGAGCCAACTTCTCCGAAGACAGTCCAGCCCTGCCCCCAGCAGGCAGGTGAGCACTGCCAGCTGTCTGGGGCCCCGCACCCCAAGGGGCGGCCACTGCCTCTTCCCTCCCGCTAGAAGCCAGGCAGGGGGCTTGGACAGGAAGGTCCTCTATGAAAGGGTCGGAGTCCAATCATGGGGATCCAGCTCTCCCCTCTCCCCAACGGCCAGCAGCTCTTGGCAAAATGCACAAGACCCCACATTAATCCTTTGAAGATAGCCCCTCTCCCACGCTATCCCCTTCCTTTACTAAGCACTGCTGTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCACTGTCTCCCAGGCTGGAGTGCAGTGGGACAATATTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTACCTCAGCCTCCCAAATAGCTGGGATTACAGGCGTGTGCCACCACACCCAACTAATTTTCGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCACTCCTGACGTCAAGTGATCCGCCCACCTTGGCCTCCCAAGGTGCTGGGATTACAGGCGTGAACCACGGCACCTGGCCAATACTGCTGTCTTGAGCAGATTTCAGGGAAAGCCTTGAAGCAAGAATCTGGCTCTAAGGGCCCTCTCTTTCAGGGTAATTTGTATCTTTAACCAAACCCAGAGGGCTAGGCCCGCCTCAGTGGAATGGGGTATTGGTGGTGGAGGTTCTGGCACCTGATAGCCCAAGTTGGAATCAGTATCTTTGAGAGGGGTGAGAAGCCAAGAACGGGGGCAGGTCTTTGCAGATCTTTTTCTGGAACTGAGGAAAGCGGGTGAAAGGGAGGAGCTGACCCCGGAGGGGTGGGGCAGAGACCCTGTGTACTTTTTGGCCTGCTTTGATTCAGGCTGCTGTGTGGACACAGCCTTGACTCTCTGGGGGCCTAAGAAAGGCAGAGCTGGCAGCCAGGTCCCCAGAGAGAGAGCCTCACCTACCCCCTCACCTCATCCCCAGGTGACCATGCTCCCTGCCAAACAGGCAGAACTGACCCGGCGGAGCCAAGCAGAGCCCCCTCATCCTTGGAGTCCTGAGAAGAGACCTGAGGGAGATCGGCAGCTCCAGGGGTCCCCGCTGCCCCCCAGGACATCAGCCAGGACCCCTGAGAGGGAGCTGCGGACACAGAGACCTCTGGAGAGTGGCCAAGCAGGCCCAAGACAGCCTCTGGGGGTGTGGCAGAGTCAGGAGGAACCGCCAGGGTCCCAGGGCCCTCATAGACACCTAGAAAGGAGCTGGAGCAGCCAGGAGGGAGGCCTGGGCCCTGGGGGCTGGTGGGGATGTGGAGAGCCCAGCCTGGGGGCAGCCAAAGCCCCGGAGGGAGCATGGGGGGGCACTTCCAGGGAGTACAAGGAGAGCTGGGGGCAGCCAGAGGCCTGGGAGGAGAAGCCCACTCATGAGCTCCCCAGAGAACTAGGAAAGAGAAGCCCACTCACGAGCCCCCCTGAGAACTGGGGAGGCCCCGCAGAGTCCTCACAATCCTGGCACTCTGGGACACCCACTGCTGTGGGCTGGGGGGCAGAGGGAGCGTGTCCATACCCGCGTGGCTCTGAGAGGCGACCCGAGCTTGACTGGAGGGATCTGCTTGGCCTTCTCCGGGCACCAGGAGAGGGGGTCTGGGCCCGTGTCCCCAGCCTGGACTGGGAGGGCCTCTTGGAGCTCCTGCAGGCCAGGCTGCCCCGCAAGGACCCAGCTGGACACAGGGATGACCTGGCCAGGGCTTTAGGGCCAGAGCTGGGTCCCCCAGGCACAAACGATGTCCCTGAGCAGGAGTCACACAGCCAGCCAGAAGGCTGGGCCGAGGCCACCCCAGTCAATGGACACAGCCCCGCACTGCAGTCCCAGAGCCCGGTCCAGCTGCCCAGCCCTGCCTGCACCTCCACCCAGTGGCCAAAGATCAAAGTGACAAGAGGACCAGCGACCGCAACTCTGGCAGGCCTGGAGCAGACGGGCCCCCTGGGGAGCAGGAGCACTGCGAAGGGCCCCAGCTTGCCAGAGCTGCAGGTAAGGAGGTTTCCACCCTCCCAAGGGTAGCCAGAAAGTCAGCCCCACTCAGCCAAGTCTCCTTGGAAAAGCCTCCCCTTGGAGTAGCCTAAGCTCCTGCATCCCCCTCCAGGCTCAGACCTCAGCCTCCCTGCTGACCACAACCCATCCCGATCACCAAACTGGCCCAACAATGATGATGAGCAACACAGTTTTAAGCGTTTATGGGCCAAGCCCTGATCTGAATGTTTGACGTGTGCTTTTCCCATTTAGTCTCCTTAGCAACCAGGTGAGAAATACACTATTTACAGATAAGGAAACTGATGCGCAGGGTGAAGCCACTTGCTGGTGGGGCATGGGCAAAACCCAGGTCTGCTCAGTGCAGACCACACTGAGGCCTCAAGCAAGATGCTCTGGCCAGGGCCTATTCCCCTCCTGGCTCCACCATACCTGGTTTATGTTGTGTCTGGTGGCACACACCTGACCCCACCTGGGACTGTAGCCAGTGTGGGCATGCCCCTTCCCCTGGTGGTACTCAGGTACCTGAGTCCAGGACAGCCTCGCTTACCCTCTCTGGCCCCTACAGCTCCTCTCAGACACAGAGAAGAGGGTGCATCAATGCTCACTGGGTTCAGCTAGCTGCCAAGACAGGCTGCTTAAATGAGGGTCGTGTGCAAAGTGGGCCCAGCGCCGGGCACACAGTAGGTGCTCGCCCTTCCCCTGCTTCACTGGTGCTTTGGTGCTGCCTTGAAGCCCAGAACATTCTTCATCTGAAGATGGTGGGCAGGGAGGGTCTTGGAGGCCAGAATCCTGCACCCTGGCAATAGCTCATTGGGAGGACGGCATGTGGTTTTGAACACCAGCCTCTCTCTCTCTCTGTAAGATGGACCAACCACTTCTCTGACGGGCAGCGCTGGGGTGCCGTGGGGGTTCCTGCTTGTTTCTCCAAAGCCTCCTCATCTCCTAGATGCAAAGTCCAACGCCACCTGCCCCAGGATGAGCAGGGCTTCCAGGCATCAGGGTGCACCCCGTGCTGGGCCCAGGGCCTTGCCATATGTGCCTCAAGTGGATAGGAGGCAGCTGCCACTTGACAGATGGGGAAACTGAGGCTCAGACTCCTTAGGCATTTGCTGGGGGTCACACATGCATAGGTCGTGAGAAATGAGATCAAAGCATCCACTCCAAAGTTTGTGCTTTTATTTTTATTTATTTATTTACTTATTGAGACGGAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAATTGCACAATCTCAGCTCACTGCAACCTCCGCCCCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGA
|
ATATGGACAGGAAAAGGCAGAAAGAATGGAACACGGGGGCACACAGCAGTCTGGCTCTGTCGTCCCACCTCGTGGGCTGCGATCATGATACAAGTGCTTGGCCCCTGGAACATAAGAAGCACTCAATAAATGCTTTGTCATAATGATTATGTGTGCCCAGTGCCTGGTACACAGTAGGTGCTCAATAAATCTTAATTCCCGCAAAGACCAGTCTAACCTTTGTCTGGGGGTGGCTCTTGGGCTGCTGGTGGGGTGGTGGTTAGTCATAGGAAGTACTGGATGAGACAGGAGAGGGCCATGGCCAGGGCCAGATCCCCCTCCCCACCCAACCGCCTCTACTCCCCACTTTTCTCGTCATGTTCGCAAGAGCCTCATGAGGCAGAATAGAGCAGTGTTAACCATCCCCATTTTTCAGAAGGGGAAACTAAGGCCCTGAGAGTCATCCTCACTTAGGGCCCTTCAACGAGCTTGCAGTGGGTCCCTGGCTGTCCCACATCTCCTCCTGTTGGAGGTGGGAGCAGAGGGGCTGGGGTGCTGGGAGTGGGACAGTCCCTCAGAGGAGTGGCTGCATTTGCTCATAGGAAGTCCGAGGCAGCGGGGGCCTTCCAGGCCCAGGACGAGGGACGGTCACAGCAGCCCAGCCAAGGCCAGAGCCAACTTCTCCGAAGACAGTCCAGCCCTGCCCCCAGCAGGCAGGTGAGCACTGCCAGCTGTCTGGGGCCCCGCACCCCAAGGGGCGGCCACTGCCTCTTCCCTCCCGCTAGAAGCCAGGCAGGGGGCTTGGACAGGAAGGTCCTCTATGAAAGGGTCGGAGTCCAATCATGGGGATCCAGCTCTCCCCTCTCCCCAACGGCCAGCAGCTCTTGGCAAAATGCACAAGACCCCACATTAATCCTTTGAAGATAGCCCCTCTCCCACGCTATCCCCTTCCTTTACTAAGCACTGCTGTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCACTGTCTCCCAGGCTGGAGTGCAGTGGGACAATATTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTACCTCAGCCTCCCAAATAGCTGGGATTACAGGCGTGTGCCACCACACCCAACTAATTTTCGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCACTCCTGACGTCAAGTGATCCGCCCACCTTGGCCTCCCAAGGTGCTGGGATTACAGGCGTGAACCACGGCACCTGGCCAATACTGCTGTCTTGAGCAGATTTCAGGGAAAGCCTTGAAGCAAGAATCTGGCTCTAAGGGCCCTCTCTTTCAGGGTAATTTGTATCTTTAACCAAACCCAGAGGGCTAGGCCCGCCTCAGTGGAATGGGGTATTGGTGGTGGAGGTTCTGGCACCTGATAGCCCAAGTTGGAATCAGTATCTTTGAGAGGGGTGAGAAGCCAAGAACGGGGGCAGGTCTTTGCAGATCTTTTTCTGGAACTGAGGAAAGCGGGTGAAAGGGAGGAGCTGACCCCGGAGGGGTGGGGCAGAGACCCTGTGTACTTTTTGGCCTGCTTTGATTCAGGCTGCTGTGTGGACACAGCCTTGACTCTCTGGGGGCCTAAGAAAGGCAGAGCTGGCAGCCAGGTCCCCAGAGAGAGAGCCTCACCTACCCCCTCACCTCATCCCCAGGTGACCATGCTCCCTGCCAAACAGGCAGAACTGACCCGGCGGAGCCAAGCAGAGCCCCCTCATCCTTGGAGTCCTGAGAAGAGACCTGAGGGAGATCGGCAGCTCCAGGGGTCCCCGCTGCCCCCCAGGACATCAGCCAGGACCCCTGAGAGGGAGCTGCGGACACAGAGACCTCTGGAGAGTGGCCAAGCAGGCCCAAGACAGCCTCTGGGGGTGTGGCAGAGTCAGGAGGAACCGCCAGGGTCCCAGGGCCCTCATAGACACCTAGAAAGGAGCTGGAGCAGCCAGGAGGGAGGCCTGGGCCCTGGGGGCTGGTGGGGATGTGGAGAGCCCAGCCTGGGGGCAGCCAAAGCCCCGGAGGGAGCATGGGGGGGGCACTTCCAGGGAGTACAAGGAGAGCTGGGGGCAGCCAGAGGCCTGGGAGGAGAAGCCCACTCATGAGCTCCCCAGAGAACTAGGAAAGAGAAGCCCACTCACGAGCCCCCCTGAGAACTGGGGAGGCCCCGCAGAGTCCTCACAATCCTGGCACTCTGGGACACCCACTGCTGTGGGCTGGGGGGCAGAGGGAGCGTGTCCATACCCGCGTGGCTCTGAGAGGCGACCCGAGCTTGACTGGAGGGATCTGCTTGGCCTTCTCCGGGCACCAGGAGAGGGGGTCTGGGCCCGTGTCCCCAGCCTGGACTGGGAGGGCCTCTTGGAGCTCCTGCAGGCCAGGCTGCCCCGCAAGGACCCAGCTGGACACAGGGATGACCTGGCCAGGGCTTTAGGGCCAGAGCTGGGTCCCCCAGGCACAAACGATGTCCCTGAGCAGGAGTCACACAGCCAGCCAGAAGGCTGGGCCGAGGCCACCCCAGTCAATGGACACAGCCCCGCACTGCAGTCCCAGAGCCCGGTCCAGCTGCCCAGCCCTGCCTGCACCTCCACCCAGTGGCCAAAGATCAAAGTGACAAGAGGACCAGCGACCGCAACTCTGGCAGGCCTGGAGCAGACGGGCCCCCTGGGGAGCAGGAGCACTGCGAAGGGCCCCAGCTTGCCAGAGCTGCAGGTAAGGAGGTTTCCACCCTCCCAAGGGTAGCCAGAAAGTCAGCCCCACTCAGCCAAGTCTCCTTGGAAAAGCCTCCCCTTGGAGTAGCCTAAGCTCCTGCATCCCCCTCCAGGCTCAGACCTCAGCCTCCCTGCTGACCACAACCCATCCCGATCACCAAACTGGCCCAACAATGATGATGAGCAACACAGTTTTAAGCGTTTATGGGCCAAGCCCTGATCTGAATGTTTGACGTGTGCTTTTCCCATTTAGTCTCCTTAGCAACCAGGTGAGAAATACACTATTTACAGATAAGGAAACTGATGCGCAGGGTGAAGCCACTTGCTGGTGGGGCATGGGCAAAACCCAGGTCTGCTCAGTGCAGACCACACTGAGGCCTCAAGCAAGATGCTCTGGCCAGGGCCTATTCCCCTCCTGGCTCCACCATACCTGGTTTATGTTGTGTCTGGTGGCACACACCTGACCCCACCTGGGACTGTAGCCAGTGTGGGCATGCCCCTTCCCCTGGTGGTACTCAGGTACCTGAGTCCAGGACAGCCTCGCTTACCCTCTCTGGCCCCTACAGCTCCTCTCAGACACAGAGAAGAGGGTGCATCAATGCTCACTGGGTTCAGCTAGCTGCCAAGACAGGCTGCTTAAATGAGGGTCGTGTGCAAAGTGGGCCCAGCGCCGGGCACACAGTAGGTGCTCGCCCTTCCCCTGCTTCACTGGTGCTTTGGTGCTGCCTTGAAGCCCAGAACATTCTTCATCTGAAGATGGTGGGCAGGGAGGGTCTTGGAGGCCAGAATCCTGCACCCTGGCAATAGCTCATTGGGAGGACGGCATGTGGTTTTGAACACCAGCCTCTCTCTCTCTCTGTAAGATGGACCAACCACTTCTCTGACGGGCAGCGCTGGGGTGCCGTGGGGGTTCCTGCTTGTTTCTCCAAAGCCTCCTCATCTCCTAGATGCAAAGTCCAACGCCACCTGCCCCAGGATGAGCAGGGCTTCCAGGCATCAGGGTGCACCCCGTGCTGGGCCCAGGGCCTTGCCATATGTGCCTCAAGTGGATAGGAGGCAGCTGCCACTTGACAGATGGGGAAACTGAGGCTCAGACTCCTTAGGCATTTGCTGGGGGTCACACATGCATAGGTCGTGAGAAATGAGATCAAAGCATCCACTCCAAAGTTTGTGCTTTTATTTTTATTTATTTATTTACTTATTGAGACGGAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAATTGCACAATCTCAGCTCACTGCAACCTCCGCCCCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAG
|
pathogenic
| 326,868 |
The mutation in gene TRIOBP (TRIO and F-actin binding protein) at chromosome 22, position 37734858—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_28']
|
GTGCTTGGCCCCTGGAACATAAGAAGCACTCAATAAATGCTTTGTCATAATGATTATGTGTGCCCAGTGCCTGGTACACAGTAGGTGCTCAATAAATCTTAATTCCCGCAAAGACCAGTCTAACCTTTGTCTGGGGGTGGCTCTTGGGCTGCTGGTGGGGTGGTGGTTAGTCATAGGAAGTACTGGATGAGACAGGAGAGGGCCATGGCCAGGGCCAGATCCCCCTCCCCACCCAACCGCCTCTACTCCCCACTTTTCTCGTCATGTTCGCAAGAGCCTCATGAGGCAGAATAGAGCAGTGTTAACCATCCCCATTTTTCAGAAGGGGAAACTAAGGCCCTGAGAGTCATCCTCACTTAGGGCCCTTCAACGAGCTTGCAGTGGGTCCCTGGCTGTCCCACATCTCCTCCTGTTGGAGGTGGGAGCAGAGGGGCTGGGGTGCTGGGAGTGGGACAGTCCCTCAGAGGAGTGGCTGCATTTGCTCATAGGAAGTCCGAGGCAGCGGGGGCCTTCCAGGCCCAGGACGAGGGACGGTCACAGCAGCCCAGCCAAGGCCAGAGCCAACTTCTCCGAAGACAGTCCAGCCCTGCCCCCAGCAGGCAGGTGAGCACTGCCAGCTGTCTGGGGCCCCGCACCCCAAGGGGCGGCCACTGCCTCTTCCCTCCCGCTAGAAGCCAGGCAGGGGGCTTGGACAGGAAGGTCCTCTATGAAAGGGTCGGAGTCCAATCATGGGGATCCAGCTCTCCCCTCTCCCCAACGGCCAGCAGCTCTTGGCAAAATGCACAAGACCCCACATTAATCCTTTGAAGATAGCCCCTCTCCCACGCTATCCCCTTCCTTTACTAAGCACTGCTGTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCACTGTCTCCCAGGCTGGAGTGCAGTGGGACAATATTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTACCTCAGCCTCCCAAATAGCTGGGATTACAGGCGTGTGCCACCACACCCAACTAATTTTCGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCACTCCTGACGTCAAGTGATCCGCCCACCTTGGCCTCCCAAGGTGCTGGGATTACAGGCGTGAACCACGGCACCTGGCCAATACTGCTGTCTTGAGCAGATTTCAGGGAAAGCCTTGAAGCAAGAATCTGGCTCTAAGGGCCCTCTCTTTCAGGGTAATTTGTATCTTTAACCAAACCCAGAGGGCTAGGCCCGCCTCAGTGGAATGGGGTATTGGTGGTGGAGGTTCTGGCACCTGATAGCCCAAGTTGGAATCAGTATCTTTGAGAGGGGTGAGAAGCCAAGAACGGGGGCAGGTCTTTGCAGATCTTTTTCTGGAACTGAGGAAAGCGGGTGAAAGGGAGGAGCTGACCCCGGAGGGGTGGGGCAGAGACCCTGTGTACTTTTTGGCCTGCTTTGATTCAGGCTGCTGTGTGGACACAGCCTTGACTCTCTGGGGGCCTAAGAAAGGCAGAGCTGGCAGCCAGGTCCCCAGAGAGAGAGCCTCACCTACCCCCTCACCTCATCCCCAGGTGACCATGCTCCCTGCCAAACAGGCAGAACTGACCCGGCGGAGCCAAGCAGAGCCCCCTCATCCTTGGAGTCCTGAGAAGAGACCTGAGGGAGATCGGCAGCTCCAGGGGTCCCCGCTGCCCCCCAGGACATCAGCCAGGACCCCTGAGAGGGAGCTGCGGACACAGAGACCTCTGGAGAGTGGCCAAGCAGGCCCAAGACAGCCTCTGGGGGTGTGGCAGAGTCAGGAGGAACCGCCAGGGTCCCAGGGCCCTCATAGACACCTAGAAAGGAGCTGGAGCAGCCAGGAGGGAGGCCTGGGCCCTGGGGGCTGGTGGGGATGTGGAGAGCCCAGCCTGGGGGCAGCCAAAGCCCCGGAGGGAGCATGGGGGGGCACTTCCAGGGAGTACAAGGAGAGCTGGGGGCAGCCAGAGGCCTGGGAGGAGAAGCCCACTCATGAGCTCCCCAGAGAACTAGGAAAGAGAAGCCCACTCACGAGCCCCCCTGAGAACTGGGGAGGCCCCGCAGAGTCCTCACAATCCTGGCACTCTGGGACACCCACTGCTGTGGGCTGGGGGGCAGAGGGAGCGTGTCCATACCCGCGTGGCTCTGAGAGGCGACCCGAGCTTGACTGGAGGGATCTGCTTGGCCTTCTCCGGGCACCAGGAGAGGGGGTCTGGGCCCGTGTCCCCAGCCTGGACTGGGAGGGCCTCTTGGAGCTCCTGCAGGCCAGGCTGCCCCGCAAGGACCCAGCTGGACACAGGGATGACCTGGCCAGGGCTTTAGGGCCAGAGCTGGGTCCCCCAGGCACAAACGATGTCCCTGAGCAGGAGTCACACAGCCAGCCAGAAGGCTGGGCCGAGGCCACCCCAGTCAATGGACACAGCCCCGCACTGCAGTCCCAGAGCCCGGTCCAGCTGCCCAGCCCTGCCTGCACCTCCACCCAGTGGCCAAAGATCAAAGTGACAAGAGGACCAGCGACCGCAACTCTGGCAGGCCTGGAGCAGACGGGCCCCCTGGGGAGCAGGAGCACTGCGAAGGGCCCCAGCTTGCCAGAGCTGCAGGTAAGGAGGTTTCCACCCTCCCAAGGGTAGCCAGAAAGTCAGCCCCACTCAGCCAAGTCTCCTTGGAAAAGCCTCCCCTTGGAGTAGCCTAAGCTCCTGCATCCCCCTCCAGGCTCAGACCTCAGCCTCCCTGCTGACCACAACCCATCCCGATCACCAAACTGGCCCAACAATGATGATGAGCAACACAGTTTTAAGCGTTTATGGGCCAAGCCCTGATCTGAATGTTTGACGTGTGCTTTTCCCATTTAGTCTCCTTAGCAACCAGGTGAGAAATACACTATTTACAGATAAGGAAACTGATGCGCAGGGTGAAGCCACTTGCTGGTGGGGCATGGGCAAAACCCAGGTCTGCTCAGTGCAGACCACACTGAGGCCTCAAGCAAGATGCTCTGGCCAGGGCCTATTCCCCTCCTGGCTCCACCATACCTGGTTTATGTTGTGTCTGGTGGCACACACCTGACCCCACCTGGGACTGTAGCCAGTGTGGGCATGCCCCTTCCCCTGGTGGTACTCAGGTACCTGAGTCCAGGACAGCCTCGCTTACCCTCTCTGGCCCCTACAGCTCCTCTCAGACACAGAGAAGAGGGTGCATCAATGCTCACTGGGTTCAGCTAGCTGCCAAGACAGGCTGCTTAAATGAGGGTCGTGTGCAAAGTGGGCCCAGCGCCGGGCACACAGTAGGTGCTCGCCCTTCCCCTGCTTCACTGGTGCTTTGGTGCTGCCTTGAAGCCCAGAACATTCTTCATCTGAAGATGGTGGGCAGGGAGGGTCTTGGAGGCCAGAATCCTGCACCCTGGCAATAGCTCATTGGGAGGACGGCATGTGGTTTTGAACACCAGCCTCTCTCTCTCTCTGTAAGATGGACCAACCACTTCTCTGACGGGCAGCGCTGGGGTGCCGTGGGGGTTCCTGCTTGTTTCTCCAAAGCCTCCTCATCTCCTAGATGCAAAGTCCAACGCCACCTGCCCCAGGATGAGCAGGGCTTCCAGGCATCAGGGTGCACCCCGTGCTGGGCCCAGGGCCTTGCCATATGTGCCTCAAGTGGATAGGAGGCAGCTGCCACTTGACAGATGGGGAAACTGAGGCTCAGACTCCTTAGGCATTTGCTGGGGGTCACACATGCATAGGTCGTGAGAAATGAGATCAAAGCATCCACTCCAAAGTTTGTGCTTTTATTTTTATTTATTTATTTACTTATTGAGACGGAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAATTGCACAATCTCAGCTCACTGCAACCTCCGCCCCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGGACTCCTGACTTCAGGTGATGCATCCACCTTGGCCTCCCAAAGTGCCGGGATTACAGG
|
GTGCTTGGCCCCTGGAACATAAGAAGCACTCAATAAATGCTTTGTCATAATGATTATGTGTGCCCAGTGCCTGGTACACAGTAGGTGCTCAATAAATCTTAATTCCCGCAAAGACCAGTCTAACCTTTGTCTGGGGGTGGCTCTTGGGCTGCTGGTGGGGTGGTGGTTAGTCATAGGAAGTACTGGATGAGACAGGAGAGGGCCATGGCCAGGGCCAGATCCCCCTCCCCACCCAACCGCCTCTACTCCCCACTTTTCTCGTCATGTTCGCAAGAGCCTCATGAGGCAGAATAGAGCAGTGTTAACCATCCCCATTTTTCAGAAGGGGAAACTAAGGCCCTGAGAGTCATCCTCACTTAGGGCCCTTCAACGAGCTTGCAGTGGGTCCCTGGCTGTCCCACATCTCCTCCTGTTGGAGGTGGGAGCAGAGGGGCTGGGGTGCTGGGAGTGGGACAGTCCCTCAGAGGAGTGGCTGCATTTGCTCATAGGAAGTCCGAGGCAGCGGGGGCCTTCCAGGCCCAGGACGAGGGACGGTCACAGCAGCCCAGCCAAGGCCAGAGCCAACTTCTCCGAAGACAGTCCAGCCCTGCCCCCAGCAGGCAGGTGAGCACTGCCAGCTGTCTGGGGCCCCGCACCCCAAGGGGCGGCCACTGCCTCTTCCCTCCCGCTAGAAGCCAGGCAGGGGGCTTGGACAGGAAGGTCCTCTATGAAAGGGTCGGAGTCCAATCATGGGGATCCAGCTCTCCCCTCTCCCCAACGGCCAGCAGCTCTTGGCAAAATGCACAAGACCCCACATTAATCCTTTGAAGATAGCCCCTCTCCCACGCTATCCCCTTCCTTTACTAAGCACTGCTGTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCACTGTCTCCCAGGCTGGAGTGCAGTGGGACAATATTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTTCTACCTCAGCCTCCCAAATAGCTGGGATTACAGGCGTGTGCCACCACACCCAACTAATTTTCGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCACTCCTGACGTCAAGTGATCCGCCCACCTTGGCCTCCCAAGGTGCTGGGATTACAGGCGTGAACCACGGCACCTGGCCAATACTGCTGTCTTGAGCAGATTTCAGGGAAAGCCTTGAAGCAAGAATCTGGCTCTAAGGGCCCTCTCTTTCAGGGTAATTTGTATCTTTAACCAAACCCAGAGGGCTAGGCCCGCCTCAGTGGAATGGGGTATTGGTGGTGGAGGTTCTGGCACCTGATAGCCCAAGTTGGAATCAGTATCTTTGAGAGGGGTGAGAAGCCAAGAACGGGGGCAGGTCTTTGCAGATCTTTTTCTGGAACTGAGGAAAGCGGGTGAAAGGGAGGAGCTGACCCCGGAGGGGTGGGGCAGAGACCCTGTGTACTTTTTGGCCTGCTTTGATTCAGGCTGCTGTGTGGACACAGCCTTGACTCTCTGGGGGCCTAAGAAAGGCAGAGCTGGCAGCCAGGTCCCCAGAGAGAGAGCCTCACCTACCCCCTCACCTCATCCCCAGGTGACCATGCTCCCTGCCAAACAGGCAGAACTGACCCGGCGGAGCCAAGCAGAGCCCCCTCATCCTTGGAGTCCTGAGAAGAGACCTGAGGGAGATCGGCAGCTCCAGGGGTCCCCGCTGCCCCCCAGGACATCAGCCAGGACCCCTGAGAGGGAGCTGCGGACACAGAGACCTCTGGAGAGTGGCCAAGCAGGCCCAAGACAGCCTCTGGGGGTGTGGCAGAGTCAGGAGGAACCGCCAGGGTCCCAGGGCCCTCATAGACACCTAGAAAGGAGCTGGAGCAGCCAGGAGGGAGGCCTGGGCCCTGGGGGCTGGTGGGGATGTGGAGAGCCCAGCCTGGGGGCAGCCAAAGCCCCGGAGGGAGCATGGGGGGGCACTTCCAGGGAGTACAAGGAGAGCTGGGGGCAGCCAGAGGCCTGGGAGGAGAAGCCCACTCATGAGCTCCCCAGAGAACTAGGAAAGAAGCCCACTCACGAGCCCCCCTGAGAACTGGGGAGGCCCCGCAGAGTCCTCACAATCCTGGCACTCTGGGACACCCACTGCTGTGGGCTGGGGGGCAGAGGGAGCGTGTCCATACCCGCGTGGCTCTGAGAGGCGACCCGAGCTTGACTGGAGGGATCTGCTTGGCCTTCTCCGGGCACCAGGAGAGGGGGTCTGGGCCCGTGTCCCCAGCCTGGACTGGGAGGGCCTCTTGGAGCTCCTGCAGGCCAGGCTGCCCCGCAAGGACCCAGCTGGACACAGGGATGACCTGGCCAGGGCTTTAGGGCCAGAGCTGGGTCCCCCAGGCACAAACGATGTCCCTGAGCAGGAGTCACACAGCCAGCCAGAAGGCTGGGCCGAGGCCACCCCAGTCAATGGACACAGCCCCGCACTGCAGTCCCAGAGCCCGGTCCAGCTGCCCAGCCCTGCCTGCACCTCCACCCAGTGGCCAAAGATCAAAGTGACAAGAGGACCAGCGACCGCAACTCTGGCAGGCCTGGAGCAGACGGGCCCCCTGGGGAGCAGGAGCACTGCGAAGGGCCCCAGCTTGCCAGAGCTGCAGGTAAGGAGGTTTCCACCCTCCCAAGGGTAGCCAGAAAGTCAGCCCCACTCAGCCAAGTCTCCTTGGAAAAGCCTCCCCTTGGAGTAGCCTAAGCTCCTGCATCCCCCTCCAGGCTCAGACCTCAGCCTCCCTGCTGACCACAACCCATCCCGATCACCAAACTGGCCCAACAATGATGATGAGCAACACAGTTTTAAGCGTTTATGGGCCAAGCCCTGATCTGAATGTTTGACGTGTGCTTTTCCCATTTAGTCTCCTTAGCAACCAGGTGAGAAATACACTATTTACAGATAAGGAAACTGATGCGCAGGGTGAAGCCACTTGCTGGTGGGGCATGGGCAAAACCCAGGTCTGCTCAGTGCAGACCACACTGAGGCCTCAAGCAAGATGCTCTGGCCAGGGCCTATTCCCCTCCTGGCTCCACCATACCTGGTTTATGTTGTGTCTGGTGGCACACACCTGACCCCACCTGGGACTGTAGCCAGTGTGGGCATGCCCCTTCCCCTGGTGGTACTCAGGTACCTGAGTCCAGGACAGCCTCGCTTACCCTCTCTGGCCCCTACAGCTCCTCTCAGACACAGAGAAGAGGGTGCATCAATGCTCACTGGGTTCAGCTAGCTGCCAAGACAGGCTGCTTAAATGAGGGTCGTGTGCAAAGTGGGCCCAGCGCCGGGCACACAGTAGGTGCTCGCCCTTCCCCTGCTTCACTGGTGCTTTGGTGCTGCCTTGAAGCCCAGAACATTCTTCATCTGAAGATGGTGGGCAGGGAGGGTCTTGGAGGCCAGAATCCTGCACCCTGGCAATAGCTCATTGGGAGGACGGCATGTGGTTTTGAACACCAGCCTCTCTCTCTCTCTGTAAGATGGACCAACCACTTCTCTGACGGGCAGCGCTGGGGTGCCGTGGGGGTTCCTGCTTGTTTCTCCAAAGCCTCCTCATCTCCTAGATGCAAAGTCCAACGCCACCTGCCCCAGGATGAGCAGGGCTTCCAGGCATCAGGGTGCACCCCGTGCTGGGCCCAGGGCCTTGCCATATGTGCCTCAAGTGGATAGGAGGCAGCTGCCACTTGACAGATGGGGAAACTGAGGCTCAGACTCCTTAGGCATTTGCTGGGGGTCACACATGCATAGGTCGTGAGAAATGAGATCAAAGCATCCACTCCAAAGTTTGTGCTTTTATTTTTATTTATTTATTTACTTATTGAGACGGAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAATTGCACAATCTCAGCTCACTGCAACCTCCGCCCCCCAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGGACTCCTGACTTCAGGTGATGCATCCACCTTGGCCTCCCAAAGTGCCGGGATTACAGGNN
|
pathogenic
| 326,872 |
Classify the chromosome 22 variant at position 37755093 affecting gene TRIOBP as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
benign
|
ATAGAACCCCTGTCCTACTTTACAGAGAGGCAATTGAGGTCTGCAGCAGCAACTCCGTTTACTTAGTGAGAGGAAAATGCTTCTAAGAGGCCTGGCCTCCCAGAACAAACCCAGCAACCTGGTTGGTGTCCATCCCTATGCCAAGGGCCATGACAGCCATCCACACAAGAGAGGATGGGCGCCGCTCGCCTCACCAGAAGGTCTAGGCACTTCTTTTTTTGTTTTTTATTTTTGTTTTTTTTTTTCTGAGGCAGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAACCTCGGCTCACTGTGTCTTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCCGGGATTACAGGCATGCGCCACCATGCCCATCTAATTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCTTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGCGAGCTACCGCGCCCAGCTATAGGGACTTCTTAGTAGCCCTACTTTATGGTTCAGAAGACTGAAGCTCAGAAAAGTGGAGACACTTGCCTAAAGGCACACAGAGAGAAAGGGAACTCTTGGATACAAAACTCCTTTTCTCAGGGAGGCAATGTGGAAAGAAGCAGAAGGTATCGTCGTTGCATGCCCCTTGAGAACTTACCATCTTCTTGAGGAGAGAAAACTAAGTACTTGAAACAACCAACAGCACAGACAGGGCTTGGTGATGTGAGGGAACCCTGGGAGGGCTGGGGACCGGGTGATATGCACTGACCCTGGCAGTGGGCGGGCCGCGACTGGCATTCCAGTGGAGTGACCAGAAGCCCAGAGGTGGGCTGGGCTTGGCATACTATCAGGCTGTTCTGGCGCCCCCACCCCTTTCCTACATGTCCTGCCAATCTAACCCCAGCTGGAGCAGAGACAGGCACTGCAGGAAGGCACCCAATCACAAATCCTAAACTTACAGCTTAGGGCGCTCTCACCTGCTGCGGATGTGGGTAGCCAGCCTACAGTTCAAGAAGCAGACCGTGCATCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGAATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCTGACATGATGAAACCCTATCTCTACTAAAAATACAAGAAATTAGCTGAGCATGATGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTAAGACAGGAGAATCACTTGAACTCAGGAGGAGGGGGAGGTTGCAGTGAGTGGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCTCCATCTCAAAAAAAAAAAAAAAAAAAGGCAGCAGATTGTGGCTGGCACTCACTCCTACTCCAGGGCTCCATCCAGTCCTACTTCCCAGGGGACCATTGTCCCTGACCATGGTGATGATCTGGGGGAATATGGAAAAAGACGTAACGTCCTGGCCCCGCTGAGTCCCTGACTTGCTTACACAGGTCATCACCCCTCCCTGTCTGCACTGGGTCCGGGGTGCCTGAGGAGCCTTGGCAATCTTAAAAGGAGCTCCAAGAAGGAAAGGGAGGGTGTGGTTACGGAGGGGAAACCAATCCATTTCACAGATGCTACCCCTGAGGCTCAGAGAGGAAATGGAGGGGCCAGGTCTCAAATTGGCATTTTCCGCCTCCCCACCCCTCCTGTGTGCAGCATAGTGAGTTTGGCAGCCACACAGGACACCTGTACAATCACACACACTGGCTCTTTCATTCCATCCTCCTTGCAGCCTCCCTCCCCCTCGCTCACCACCACCTCTACTTCGCAGTGGAAGAAACATTGGTTTGTGCTGACAGATTCAAGTCTCAAATATTACAGAGACTCCACTGCTGAGGAGGTGAGGCCATGGGTGTACTGATGAACCCCCGGAAGGGCCTGGGGTGGCCTGGCTGGGTTCACTGGGGTGGGTCACACCAGGGCCCACACGGACCATAGTGGGCCCTCTTGCTCCAGGCAGATGAGCTGGATGGTGAGATCGACCTGCGTTCCTGCACGGATGTCACTGAGTACGCGGTGCAGCGCAACTATGGCTTCCAGATCCACGTGAGGCTGTGTGCAGCTTGGGGGCTGGTGGTGGGCAGCATGGCTGGAGGTCCCTGGGGGAGGTTTTGGTGTTGAACATGGCTCACCATGGAGACTGGATCCCTTCACTCATTTACCCAGAGGCCCTATCTTCAGAGCCAGAGCTGTGATGCCAACACTTAGCATATCTGGGGGAGACGCTGGAGCCAGCAGGGCTCTTCCCAGGCCAATGGAAGGGAGGTTTTGTACCCCCTGCCCACCCCAGACTCAAGACCTTAGATGCATCCTGGGAAGGAAGGGCCACCCTCCCTGGGGTCCATAGTGGGGAGGGAGTCATGCGGCTGGCCATGTGGCAACCTACCCATGCGGTGGCCTTGCAGACCAAGGATGCTGTCTATACCTTGTCGGCCATGACCTCAGGCATCCGGCGGAACTGGATCGAGGCTCTGAGAAAGACCGTACGTCCAACTTCAGCCCCAGATGTCACCAAGTACGTACTAAGCTGGACTGGGGCCTTGAGGGAGGCACTTACCCTTGCGTCCCCGAGTGGGTTTCTAGGTACTCACCTGAGGGCTGCACCTTTCTGGGCCCTCGTTTCTCTGTCAACAACATGGGAAGAGAGTAGTGAGCATTCTCGGTATCATCCAGAAGTACACTGAGGGTTTGAGGTTTGATCTGTCTTCTCAAATGTGATGGGGCCTCTTCTCTTTGGAGGAGATGCCTGTGAGTCAAAAGCCCCTGCCAGGTGGCTGTTCTGTCTCTGTGTCTGTGCCGTGGGGGCCGTGTCTAAGCCTGTGTTAGGAAGGGGTGGTTAGGTAGTTCAGCCTTGGCGCCCACACCTCCCGGGATGGGGAGCTCACTCCTTCTGGAGGCTGCCACGGGCACTGGGGCAGGAGGGCTGAGTTACCGAGTGGCAGAGCCCCCCACAGTTTATACCCAGATGCCCATGGCGGGCTGGGACTTGGAGCTGCTGGGCAGCGGGAACAGAGTGTGGTATTAAAGGGGGCTGGGCTGGGTGTAGTGGCTCACACCTGTAATCCCAGCGATTTGGGAGGCTGAGATGGGAGGATCACTTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCTCGTCCCTACAAAAAATTTAAAAATCAGCTGGCCGTGGTAGGGTGCGCCTGTCAGCTGAGGTGGGAGGATCACCTGAGCCCGGAGGCCGAGTCCCCCAGACTGGCCACACCGCGGCTATTCAGCCTTAGGCCAGAGGCTTTCCTGTCTAGGTTTCAGAGTCCCCATCTGTCACGTTAGCATGTCATGTCTGTACATGTGCCAGGATGTGCCCAGAGCACTTTGTGAACTCTGAAGCACTGTGCAGTTGGACTGTTATTTAGCATCTAGGCCCAGCTGCTTTAAGAAAGAAACCCCGGGCACAGTAACTTCATCGAGATAGATGTTCATGTCTCCCTTCAGAACAGCCCCGAGGTATGCAGTCCTGGCCTGGTGGGGCTCGCTCTGCCGTTTCAGGGGAGCCACCTGCCACACCCACTCGGCAGCCTATAGTCACATGGCTACAAGTAGCTGTGGGAATACTGCGAGTGTAGTTTTTGGCAGGGTGACCACGTACCCAGCTATGACTGTGGATAAAGAGAATTGCCATAGTTGTTCAGAGTCTCTGCAACTTGTGTTCTGTGCACCCCGAGGTCCCGCCTTCACCCCATCAGCAGTGACTGGGCATCCCCCTTGCCACTGTGAGCCTCGGGAACCTGGGACATTGGTCTCCTACATCACCTCATTGATCACCATTTGCAAAAAGCCCCCTGCCTGCTTTCCACGTTCGCCCACCCTGTCCTCACATCCATCCTGTGAGAGGCGTCGCTGTCCCACATTACAGATGAGGTCACTGAAGCTCAAAGAGGGCAAAGAGACCAGTGTGGTGGTTCACGCCTGTAATCCCAGAGCTTTGGGAGGCTGAGGTGGGAGGAG
|
ATAGAACCCCTGTCCTACTTTACAGAGAGGCAATTGAGGTCTGCAGCAGCAACTCCGTTTACTTAGTGAGAGGAAAATGCTTCTAAGAGGCCTGGCCTCCCAGAACAAACCCAGCAACCTGGTTGGTGTCCATCCCTATGCCAAGGGCCATGACAGCCATCCACACAAGAGAGGATGGGCGCCGCTCGCCTCACCAGAAGGTCTAGGCACTTCTTTTTTTGTTTTTTATTTTTGTTTTTTTTTTTCTGAGGCAGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAACCTCGGCTCACTGTGTCTTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCCGGGATTACAGGCATGCGCCACCATGCCCATCTAATTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCTTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGCGAGCTACCGCGCCCAGCTATAGGGACTTCTTAGTAGCCCTACTTTATGGTTCAGAAGACTGAAGCTCAGAAAAGTGGAGACACTTGCCTAAAGGCACACAGAGAGAAAGGGAACTCTTGGATACAAAACTCCTTTTCTCAGGGAGGCAATGTGGAAAGAAGCAGAAGGTATCGTCGTTGCATGCCCCTTGAGAACTTACCATCTTCTTGAGGAGAGAAAACTAAGTACTTGAAACAACCAACAGCACAGACAGGGCTTGGTGATGTGAGGGAACCCTGGGAGGGCTGGGGACCGGGTGATATGCACTGACCCTGGCAGTGGGCGGGCCGCGACTGGCATTCCAGTGGAGTGACCAGAAGCCCAGAGGTGGGCTGGGCTTGGCATACTATCAGGCTGTTCTGGCGCCCCCACCCCTTTCCTACATGTCCTGCCAATCTAACCCCAGCTGGAGCAGAGACAGGCACTGCAGGAAGGCACCCAATCACAAATCCTAAACTTACAGCTTAGGGCGCTCTCACCTGCTGCGGATGTGGGTAGCCAGCCTACAGTTCAAGAAGCAGACCGTGCATCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGAATCACCTGAGGCCAGGAGTTTGAGACCAGCCTGGCTGACATGATGAAACCCTATCTCTACTAAAAATACAAGAAATTAGCTGAGCATGATGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTAAGACAGGAGAATCACTTGAACTCAGGAGGAGGGGGAGGTTGCAGTGAGTGGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCTCCATCTCAAAAAAAAAAAAAAAAAAAGGCAGCAGATTGTGGCTGGCACTCACTCCTACTCCAGGGCTCCATCCAGTCCTACTTCCCAGGGGACCATTGTCCCTGACCATGGTGATGATCTGGGGGAATATGGAAAAAGACGTAACGTCCTGGCCCCGCTGAGTCCCTGACTTGCTTACACAGGTCATCACCCCTCCCTGTCTGCACTGGGTCCGGGGTGCCTGAGGAGCCTTGGCAATCTTAAAAGGAGCTCCAAGAAGGAAAGGGAGGGTGTGGTTACGGAGGGGAAACCAATCCATTTCACAGATGCTACCCCTGAGGCTCAGAGAGGAAATGGAGGGGCCAGGTCTCAAATTGGCATTTTCCGCCTCCCCACCCCTCCTGTGTGCAGCATAGTGAGTTTGGCAGCCACACAGGACACCTGTACAATCACACACACTGGCTCTTTCATTCCATCCTCCTTGCAGCCTCCCTCCCCCTCGCTCACCACCACCTCTACTTCGCAGTGGAAGAAACATTGGTTTGTGCTGACAGATTCAAGTCTCAAATATTACAGAGACTCCACTGCTGAGGAGGTGAGGCCATGGGTGTACTGATGAACCCCCGGAAGGGCCTGGGGTGGCCTGGCTGGGTTCACTGGGGTGGGTCACACCAGGGCCCACACGGACCATAGTGGGCCCTCTTCTCCAGGCAGATGAGCTGGATGGTGAGATCGACCTGCGTTCCTGCACGGATGTCACTGAGTACGCGGTGCAGCGCAACTATGGCTTCCAGATCCACGTGAGGCTGTGTGCAGCTTGGGGGCTGGTGGTGGGCAGCATGGCTGGAGGTCCCTGGGGGAGGTTTTGGTGTTGAACATGGCTCACCATGGAGACTGGATCCCTTCACTCATTTACCCAGAGGCCCTATCTTCAGAGCCAGAGCTGTGATGCCAACACTTAGCATATCTGGGGGAGACGCTGGAGCCAGCAGGGCTCTTCCCAGGCCAATGGAAGGGAGGTTTTGTACCCCCTGCCCACCCCAGACTCAAGACCTTAGATGCATCCTGGGAAGGAAGGGCCACCCTCCCTGGGGTCCATAGTGGGGAGGGAGTCATGCGGCTGGCCATGTGGCAACCTACCCATGCGGTGGCCTTGCAGACCAAGGATGCTGTCTATACCTTGTCGGCCATGACCTCAGGCATCCGGCGGAACTGGATCGAGGCTCTGAGAAAGACCGTACGTCCAACTTCAGCCCCAGATGTCACCAAGTACGTACTAAGCTGGACTGGGGCCTTGAGGGAGGCACTTACCCTTGCGTCCCCGAGTGGGTTTCTAGGTACTCACCTGAGGGCTGCACCTTTCTGGGCCCTCGTTTCTCTGTCAACAACATGGGAAGAGAGTAGTGAGCATTCTCGGTATCATCCAGAAGTACACTGAGGGTTTGAGGTTTGATCTGTCTTCTCAAATGTGATGGGGCCTCTTCTCTTTGGAGGAGATGCCTGTGAGTCAAAAGCCCCTGCCAGGTGGCTGTTCTGTCTCTGTGTCTGTGCCGTGGGGGCCGTGTCTAAGCCTGTGTTAGGAAGGGGTGGTTAGGTAGTTCAGCCTTGGCGCCCACACCTCCCGGGATGGGGAGCTCACTCCTTCTGGAGGCTGCCACGGGCACTGGGGCAGGAGGGCTGAGTTACCGAGTGGCAGAGCCCCCCACAGTTTATACCCAGATGCCCATGGCGGGCTGGGACTTGGAGCTGCTGGGCAGCGGGAACAGAGTGTGGTATTAAAGGGGGCTGGGCTGGGTGTAGTGGCTCACACCTGTAATCCCAGCGATTTGGGAGGCTGAGATGGGAGGATCACTTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAATATAGTGAGACCTCGTCCCTACAAAAAATTTAAAAATCAGCTGGCCGTGGTAGGGTGCGCCTGTCAGCTGAGGTGGGAGGATCACCTGAGCCCGGAGGCCGAGTCCCCCAGACTGGCCACACCGCGGCTATTCAGCCTTAGGCCAGAGGCTTTCCTGTCTAGGTTTCAGAGTCCCCATCTGTCACGTTAGCATGTCATGTCTGTACATGTGCCAGGATGTGCCCAGAGCACTTTGTGAACTCTGAAGCACTGTGCAGTTGGACTGTTATTTAGCATCTAGGCCCAGCTGCTTTAAGAAAGAAACCCCGGGCACAGTAACTTCATCGAGATAGATGTTCATGTCTCCCTTCAGAACAGCCCCGAGGTATGCAGTCCTGGCCTGGTGGGGCTCGCTCTGCCGTTTCAGGGGAGCCACCTGCCACACCCACTCGGCAGCCTATAGTCACATGGCTACAAGTAGCTGTGGGAATACTGCGAGTGTAGTTTTTGGCAGGGTGACCACGTACCCAGCTATGACTGTGGATAAAGAGAATTGCCATAGTTGTTCAGAGTCTCTGCAACTTGTGTTCTGTGCACCCCGAGGTCCCGCCTTCACCCCATCAGCAGTGACTGGGCATCCCCCTTGCCACTGTGAGCCTCGGGAACCTGGGACATTGGTCTCCTACATCACCTCATTGATCACCATTTGCAAAAAGCCCCCTGCCTGCTTTCCACGTTCGCCCACCCTGTCCTCACATCCATCCTGTGAGAGGCGTCGCTGTCCCACATTACAGATGAGGTCACTGAAGCTCAAAGAGGGCAAAGAGACCAGTGTGGTGGTTCACGCCTGTAATCCCAGAGCTTTGGGAGGCTGAGGTGGGAGGAGN
|
benign
| 326,897 |
Determine if the mutation at chromosome 22, position 37765828 in gene TRIOBP (TRIO and F-actin binding protein) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
benign
|
CAGCTACCTAAATAATGCACATGTATTACCTCACGCTTCTGTAGGCGAGAAGTCTAACGCGAGTCTTGCCGCGCTGCAGCCAAGGCGTGGGCAGGACTGTGTTCCTCTGCAGGCACCCGTTGTATCCCTTGCCTGCTCCAGCTTCTGGTGGCCGTCCGCGTCCCTTGGCTCTCGGCCCCTTCCTTCATCTTCAAAGCCTGCAGAGGGGAAGTCGAGTCCTTCTCCTGCCACGTCACTCTGACCATCCCTTCCTGGTCACACCTCCCTTGAACTCTTCGCTTCTGCCCCCTTCGTCCACTTTTAAGGACCCTTGTGATTACACTGGGCTTGAGGGATAATCTGGGATAATCTCCCGATTTTAAGGTCAGCTGATTAGCAACCTTGATTCCCTCTGCAGCCTGAATTCCTCTTTGCCATGTAACATGATGTAGTCACAGATCCTGGGAGTAAGATGTGGACAACTTTGAGGGGCTATCATTCTGCCCCCTACAATATCCTCCCTACCTTTTCTGTGTTTTCTGTGTTTTCCATTCACTGGGACGGACAGGTCTGCACGTTTGTTCCCGTGAGTGAGATCATACCACGTGTATGTCAGAAGCCAACTTTCACCACCTCATTTTGGGATCTTTTTCCACAGCATCCACACAAAAACTCTGTCTAGCAGCTGCCTGTGTCCCATTGTCAAGCTCGATCCCATCATTTATTCAAGAGTTCCCCTGATAGGGATTTAGATTGTTTCCAGTTTTCATCTGTTACCAACCTGGCTGTAGGGAATACCCTTGTTCCAAAAGTCTCTGTACACATACGACTTTCTGTGGGATCATTTCTGGGAGTGAACCTACTAGGTCAACCAGTGGGGTCGCAAAATGTGATGATGCCACCGGACCACCCCCAACACACACCGTTGTGGCGGACACTCCCAGCAGTGGGTATTATTAGTCTGAGATACTTGCCCATCTTGTCTACTAAGCATTATTTTGTATTACATCATCAGTTTCAGCTCATTTACTGAGCACCTGCCACATGTCAGGCCCTGGCCTAGACCCTGGGGACTGCGCCAGTCAGATGTTCTCAGTCTTCAGGGAATTTATGGTTTGGCAGAGGTAGAACCTTTTGAGGCAGGGGAGAGGCTGCCCAGAGACAGAGCTAGGAGAGACATTTAAACTGGGCTGCAGGTCAGTAAATTACCCAGGGAGGTAAAGTTGCCAAAAAAACATTCCAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGCCGGCAGATCACAAGGTCAGAAGTTCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCACGAGGCTGAGGCAGAAGAATCACTTGAACCCAGAGGTGGAGGTTGCAGTGAGCTGAGATTGCTCCACTGCACTCCAGCCTGGGTGACAGAACAAAACTCTGTCTCAAAAACAAAAACAAAAACAAAAAAACCACAAAATTCCAGGCAGTGGGAATAGCTAAAGCTCAGAGGTGTGAACGTGCTGCAACCGTAACTGTGAGATTGCTTGGCAGAGAAAGGCCAGGGATGAGAACGTAAAGGTCAGCCATGGGAACGGGGACTTGACTCTGTAGGACGAGGAATCCCTGGAGGGCTTGAGGCAGGAGCGACAAGGTGAGGTTTGTGAATGAGGAGCCGTGGGGTGGGGGTGGGAGCAGGAGCAGGTGCAGACTGGAGGTGCTGGGACCCAGGAGGAGGTGGTGTACCTGCCCCTGAGCCTTCTCCTCTGGAGGCTGGGGAAGGGCCGCTGTCCAGAGGAACGGGGCAGCCTGTGACACCCTGGCGTCCGGCCCACAGGAGGCATGTGAGCGCAGCCTGGCAGAGATGGAGTCCTCGCACCAGCAGGTGATGGAGGAGCTGCAGCGGCACCACGAGCGGGAGCTGCAGCGCCTGCAGCAGGAGAAGGAGTGGCTCCTGGCTGAGGAGACGGCAGCCACGGCCTCAGGTATGGACCCTGGGGGGGGCACAGTGGGCTGGGCTCTGAGCCTCTGTGCTGAGGTTCCTCCTAGCCAAACTGGGGAGGATTTTATCAAATAAGATGTAGGGGTCTCAGTGCCACATTTGGGGTAAAGGGTCAGCAGGTGTTAGAAGCTCCAAGAACTGGCCTGTAGCCCTACTTAAAAAGGGAAACTGAGGCAGTAAAAGATACCCTCCCCACCCCCAACACCACCACTACCATAGGTGGTGACTCTTCCTGCTCAGGGGCCTGCAGCCACCATAGAGTCTGCCTAAAGGCACATGCTACCCACGTGCGTGGGGGAGAGGCTGATCAGCTGCATCCCCTGTCCTCATAGGAGTGCCTCCTCCCTGGGCACATGGGCCAGACCCTGGGGAGAGCAGGGGAAGGTGTGAGCATTGTCCATGCCAGCTGTGTGCCAGGCACTGGGCCCCACATGTTTCCCACAGGAGCACCCTTCATCCTGGACAATTCCCTCCCCTCCTGCCACCGCACACCTGCTGTGTGCCTGGCACATTCCTAGGCATCACTAGGGGTTTGCAGAACAATAGAAATGCTGGCCAATGTCACATGATCTGAAGCTCACAACCTGCCAGTGCTGTGCCAAGTGCTCATGCACTCGAACCCAGCCTTGGGGCCAGTGTGCTCTGCATTTCAGGAAGATCGCCTTTGCAGCCGCGTGTGTTAGAGACCCCTTCCCCCTCAGCAGAGTCTGGACTTCGCCCTGTAATCTGGCACTAAGGTTTCTGCTGTGAAATGGATAAAAATCACACTTAAGTGGAATAATAAAGACCATAAATAGCCTCATGTCCGTTCAGGGTGGGGATTGCCACCAAAAGATTTACCAGAGGCCCGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATGGTGGGCAGCTGCAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCTCTTGAACCCAGGAGACAGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGATGACAGAGTAAGACTCCATCAAAAAAAAAAAAGGCCAGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGCATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTATGAATACAAAAATTAGCCATGCGCGGTGGCAGGCGCGTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAAAGTGGGCGGCAAAGGTTGTAGTGAACCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCCTGGGTGACAGAGTGAGACTCCGTCTCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAGAAAGAAAAAAAGGAGAGAAACTTTCAATGTTCAGAAGTTTCGGATTTTAGAATTGTGGGTAAAACCATGGGTGGCCCTGAGTGGGAAAAAAAAAGCCTCGGTCTCAGTCCTTAGGAGCTCACAATCTGAGAATAAAGCCAGCAGGAGCTAATGTTGGGGCATTTACTCTGAGCCATGCTTTGTTCTAAATTCTTCACACACCTTCCAATAACCCCATGGAGGAAAGGTACTGTTGTTATCGATCCCTGTTTTCCAGATAAGGGATCTGAGGCACAAGGGGTTAAGTCACCTGTGCAAAGTCACATCGGTTTATGCTGACTGTGGAGCCTGAGCTCTTGACCACGAGGCTGGTCAAAGCAGATAGGCCTTGTTTGAGAGCCCTCAGAGTCTGCAGGGGGGGTGTACTAGGTGGGGTCCTACCTGGAAATCACTAGAACAGGAGGTACCAATGGTCAGACCCTGAGCTGTCTCCCCAGTAGGGTCCATCCAACAGGATTATCTTCCCTTAATAGATGGGCTGAGAGAGGTTGAGAGCTTACCCCAAGCCACTCAGTTTATG
|
CAGCTACCTAAATAATGCACATGTATTACCTCACGCTTCTGTAGGCGAGAAGTCTAACGCGAGTCTTGCCGCGCTGCAGCCAAGGCGTGGGCAGGACTGTGTTCCTCTGCAGGCACCCGTTGTATCCCTTGCCTGCTCCAGCTTCTGGTGGCCGTCCGCGTCCCTTGGCTCTCGGCCCCTTCCTTCATCTTCAAAGCCTGCAGAGGGGAAGTCGAGTCCTTCTCCTGCCACGTCACTCTGACCATCCCTTCCTGGTCACACCTCCCTTGAACTCTTCGCTTCTGCCCCCTTCGTCCACTTTTAAGGACCCTTGTGATTACACTGGGCTTGAGGGATAATCTGGGATAATCTCCCGATTTTAAGGTCAGCTGATTAGCAACCTTGATTCCCTCTGCAGCCTGAATTCCTCTTTGCCATGTAACATGATGTAGTCACAGATCCTGGGAGTAAGATGTGGACAACTTTGAGGGGCTATCATTCTGCCCCCTACAATATCCTCCCTACCTTTTCTGTGTTTTCTGTGTTTTCCATTCACTGGGACGGACAGGTCTGCACGTTTGTTCCCGTGAGTGAGATCATACCACGTGTATGTCAGAAGCCAACTTTCACCACCTCATTTTGGGATCTTTTTCCACAGCATCCACACAAAAACTCTGTCTAGCAGCTGCCTGTGTCCCATTGTCAAGCTCGATCCCATCATTTATTCAAGAGTTCCCCTGATAGGGATTTAGATTGTTTCCAGTTTTCATCTGTTACCAACCTGGCTGTAGGGAATACCCTTGTTCCAAAAGTCTCTGTACACATACGACTTTCTGTGGGATCATTTCTGGGAGTGAACCTACTAGGTCAACCAGTGGGGTCGCAAAATGTGATGATGCCACCGGACCACCCCCAACACACACCGTTGTGGCGGACACTCCCAGCAGTGGGTATTATTAGTCTGAGATACTTGCCCATCTTGTCTACTAAGCATTATTTTGTATTACATCATCAGTTTCAGCTCATTTACTGAGCACCTGCCACATGTCAGGCCCTGGCCTAGACCCTGGGGACTGCGCCAGTCAGATGTTCTCAGTCTTCAGGGAATTTATGGTTTGGCAGAGGTAGAACCTTTTGAGGCAGGGGAGAGGCTGCCCAGAGACAGAGCTAGGAGAGACATTTAAACTGGGCTGCAGGTCAGTAAATTACCCAGGGAGGTAAAGTTGCCAAAAAAACATTCCAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGCCGGCAGATCACAAGGTCAGAAGTTCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCACGAGGCTGAGGCAGAAGAATCACTTGAACCCAGAGGTGGAGGTTGCAGTGAGCTGAGATTGCTCCACTGCACTCCAGCCTGGGTGACAGAACAAAACTCTGTCTCAAAAACAAAAACAAAAACAAAAAAACCACAAAATTCCAGGCAGTGGGAATAGCTAAAGCTCAGAGGTGTGAACGTGCTGCAACCGTAACTGTGAGATTGCTTGGCAGAGAAAGGCCAGGGATGAGAACGTAAAGGTCAGCCATGGGAACGGGGACTTGACTCTGTAGGACGAGGAATCCCTGGAGGGCTTGAGGCAGGAGCGACAAGGTGAGGTTTGTGAATGAGGAGCCGTGGGGTGGGGGTGGGAGCAGGAGCAGGTGCAGACTGGAGGTGCTGGGACCCAGGAGGAGGTGGTGTACCTGCCCCTGAGCCTTCTCCTCTGGAGGCTGGGGAAGGGCCGCTGTCCAGAGGAACGGGGCAGCCTGTGACACCCTGGCGTCCGGCCCACAGGAGGCATGTGAGCGCAGCCTGGCAGAGATGGAGTCCTCGCACCAGCAGGTGATGGAGGAGCTGCAGCGGCACCACGAGCGGGAGCTGCAGCGCCTGCAGCAGGAGAAGGAGTGGCTCCTGGCTGAGGAGACGGCAGCCACGGCCTCAGGTATGGACCCTGGGGGGGGGCACAGTGGGCTGGGCTCTGAGCCTCTGTGCTGAGGTTCCTCCTAGCCAAACTGGGGAGGATTTTATCAAATAAGATGTAGGGGTCTCAGTGCCACATTTGGGGTAAAGGGTCAGCAGGTGTTAGAAGCTCCAAGAACTGGCCTGTAGCCCTACTTAAAAAGGGAAACTGAGGCAGTAAAAGATACCCTCCCCACCCCCAACACCACCACTACCATAGGTGGTGACTCTTCCTGCTCAGGGGCCTGCAGCCACCATAGAGTCTGCCTAAAGGCACATGCTACCCACGTGCGTGGGGGAGAGGCTGATCAGCTGCATCCCCTGTCCTCATAGGAGTGCCTCCTCCCTGGGCACATGGGCCAGACCCTGGGGAGAGCAGGGGAAGGTGTGAGCATTGTCCATGCCAGCTGTGTGCCAGGCACTGGGCCCCACATGTTTCCCACAGGAGCACCCTTCATCCTGGACAATTCCCTCCCCTCCTGCCACCGCACACCTGCTGTGTGCCTGGCACATTCCTAGGCATCACTAGGGGTTTGCAGAACAATAGAAATGCTGGCCAATGTCACATGATCTGAAGCTCACAACCTGCCAGTGCTGTGCCAAGTGCTCATGCACTCGAACCCAGCCTTGGGGCCAGTGTGCTCTGCATTTCAGGAAGATCGCCTTTGCAGCCGCGTGTGTTAGAGACCCCTTCCCCCTCAGCAGAGTCTGGACTTCGCCCTGTAATCTGGCACTAAGGTTTCTGCTGTGAAATGGATAAAAATCACACTTAAGTGGAATAATAAAGACCATAAATAGCCTCATGTCCGTTCAGGGTGGGGATTGCCACCAAAAGATTTACCAGAGGCCCGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATGGTGGGCAGCTGCAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCTCTTGAACCCAGGAGACAGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGATGACAGAGTAAGACTCCATCAAAAAAAAAAAAGGCCAGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGCATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTATGAATACAAAAATTAGCCATGCGCGGTGGCAGGCGCGTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAAAGTGGGCGGCAAAGGTTGTAGTGAACCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCCTGGGTGACAGAGTGAGACTCCGTCTCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAGAAAGAAAAAAAGGAGAGAAACTTTCAATGTTCAGAAGTTTCGGATTTTAGAATTGTGGGTAAAACCATGGGTGGCCCTGAGTGGGAAAAAAAAAGCCTCGGTCTCAGTCCTTAGGAGCTCACAATCTGAGAATAAAGCCAGCAGGAGCTAATGTTGGGGCATTTACTCTGAGCCATGCTTTGTTCTAAATTCTTCACACACCTTCCAATAACCCCATGGAGGAAAGGTACTGTTGTTATCGATCCCTGTTTTCCAGATAAGGGATCTGAGGCACAAGGGGTTAAGTCACCTGTGCAAAGTCACATCGGTTTATGCTGACTGTGGAGCCTGAGCTCTTGACCACGAGGCTGGTCAAAGCAGATAGGCCTTGTTTGAGAGCCCTCAGAGTCTGCAGGGGGGGTGTACTAGGTGGGGTCCTACCTGGAAATCACTAGAACAGGAGGTACCAATGGTCAGACCCTGAGCTGTCTCCCCAGTAGGGTCCATCCAACAGGATTATCTTCCCTTAATAGATGGGCTGAGAGAGGTTGAGAGCTTACCCCAAGCCACTCAGTTTAT
|
benign
| 326,923 |
Considering the genetic mutation at chromosome 22, position 37765831, impacting TRIOBP (TRIO and F-actin binding protein): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
benign
|
CTACCTAAATAATGCACATGTATTACCTCACGCTTCTGTAGGCGAGAAGTCTAACGCGAGTCTTGCCGCGCTGCAGCCAAGGCGTGGGCAGGACTGTGTTCCTCTGCAGGCACCCGTTGTATCCCTTGCCTGCTCCAGCTTCTGGTGGCCGTCCGCGTCCCTTGGCTCTCGGCCCCTTCCTTCATCTTCAAAGCCTGCAGAGGGGAAGTCGAGTCCTTCTCCTGCCACGTCACTCTGACCATCCCTTCCTGGTCACACCTCCCTTGAACTCTTCGCTTCTGCCCCCTTCGTCCACTTTTAAGGACCCTTGTGATTACACTGGGCTTGAGGGATAATCTGGGATAATCTCCCGATTTTAAGGTCAGCTGATTAGCAACCTTGATTCCCTCTGCAGCCTGAATTCCTCTTTGCCATGTAACATGATGTAGTCACAGATCCTGGGAGTAAGATGTGGACAACTTTGAGGGGCTATCATTCTGCCCCCTACAATATCCTCCCTACCTTTTCTGTGTTTTCTGTGTTTTCCATTCACTGGGACGGACAGGTCTGCACGTTTGTTCCCGTGAGTGAGATCATACCACGTGTATGTCAGAAGCCAACTTTCACCACCTCATTTTGGGATCTTTTTCCACAGCATCCACACAAAAACTCTGTCTAGCAGCTGCCTGTGTCCCATTGTCAAGCTCGATCCCATCATTTATTCAAGAGTTCCCCTGATAGGGATTTAGATTGTTTCCAGTTTTCATCTGTTACCAACCTGGCTGTAGGGAATACCCTTGTTCCAAAAGTCTCTGTACACATACGACTTTCTGTGGGATCATTTCTGGGAGTGAACCTACTAGGTCAACCAGTGGGGTCGCAAAATGTGATGATGCCACCGGACCACCCCCAACACACACCGTTGTGGCGGACACTCCCAGCAGTGGGTATTATTAGTCTGAGATACTTGCCCATCTTGTCTACTAAGCATTATTTTGTATTACATCATCAGTTTCAGCTCATTTACTGAGCACCTGCCACATGTCAGGCCCTGGCCTAGACCCTGGGGACTGCGCCAGTCAGATGTTCTCAGTCTTCAGGGAATTTATGGTTTGGCAGAGGTAGAACCTTTTGAGGCAGGGGAGAGGCTGCCCAGAGACAGAGCTAGGAGAGACATTTAAACTGGGCTGCAGGTCAGTAAATTACCCAGGGAGGTAAAGTTGCCAAAAAAACATTCCAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGCCGGCAGATCACAAGGTCAGAAGTTCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCACGAGGCTGAGGCAGAAGAATCACTTGAACCCAGAGGTGGAGGTTGCAGTGAGCTGAGATTGCTCCACTGCACTCCAGCCTGGGTGACAGAACAAAACTCTGTCTCAAAAACAAAAACAAAAACAAAAAAACCACAAAATTCCAGGCAGTGGGAATAGCTAAAGCTCAGAGGTGTGAACGTGCTGCAACCGTAACTGTGAGATTGCTTGGCAGAGAAAGGCCAGGGATGAGAACGTAAAGGTCAGCCATGGGAACGGGGACTTGACTCTGTAGGACGAGGAATCCCTGGAGGGCTTGAGGCAGGAGCGACAAGGTGAGGTTTGTGAATGAGGAGCCGTGGGGTGGGGGTGGGAGCAGGAGCAGGTGCAGACTGGAGGTGCTGGGACCCAGGAGGAGGTGGTGTACCTGCCCCTGAGCCTTCTCCTCTGGAGGCTGGGGAAGGGCCGCTGTCCAGAGGAACGGGGCAGCCTGTGACACCCTGGCGTCCGGCCCACAGGAGGCATGTGAGCGCAGCCTGGCAGAGATGGAGTCCTCGCACCAGCAGGTGATGGAGGAGCTGCAGCGGCACCACGAGCGGGAGCTGCAGCGCCTGCAGCAGGAGAAGGAGTGGCTCCTGGCTGAGGAGACGGCAGCCACGGCCTCAGGTATGGACCCTGGGGGGGGCACAGTGGGCTGGGCTCTGAGCCTCTGTGCTGAGGTTCCTCCTAGCCAAACTGGGGAGGATTTTATCAAATAAGATGTAGGGGTCTCAGTGCCACATTTGGGGTAAAGGGTCAGCAGGTGTTAGAAGCTCCAAGAACTGGCCTGTAGCCCTACTTAAAAAGGGAAACTGAGGCAGTAAAAGATACCCTCCCCACCCCCAACACCACCACTACCATAGGTGGTGACTCTTCCTGCTCAGGGGCCTGCAGCCACCATAGAGTCTGCCTAAAGGCACATGCTACCCACGTGCGTGGGGGAGAGGCTGATCAGCTGCATCCCCTGTCCTCATAGGAGTGCCTCCTCCCTGGGCACATGGGCCAGACCCTGGGGAGAGCAGGGGAAGGTGTGAGCATTGTCCATGCCAGCTGTGTGCCAGGCACTGGGCCCCACATGTTTCCCACAGGAGCACCCTTCATCCTGGACAATTCCCTCCCCTCCTGCCACCGCACACCTGCTGTGTGCCTGGCACATTCCTAGGCATCACTAGGGGTTTGCAGAACAATAGAAATGCTGGCCAATGTCACATGATCTGAAGCTCACAACCTGCCAGTGCTGTGCCAAGTGCTCATGCACTCGAACCCAGCCTTGGGGCCAGTGTGCTCTGCATTTCAGGAAGATCGCCTTTGCAGCCGCGTGTGTTAGAGACCCCTTCCCCCTCAGCAGAGTCTGGACTTCGCCCTGTAATCTGGCACTAAGGTTTCTGCTGTGAAATGGATAAAAATCACACTTAAGTGGAATAATAAAGACCATAAATAGCCTCATGTCCGTTCAGGGTGGGGATTGCCACCAAAAGATTTACCAGAGGCCCGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATGGTGGGCAGCTGCAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCTCTTGAACCCAGGAGACAGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGATGACAGAGTAAGACTCCATCAAAAAAAAAAAAGGCCAGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGCATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTATGAATACAAAAATTAGCCATGCGCGGTGGCAGGCGCGTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAAAGTGGGCGGCAAAGGTTGTAGTGAACCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCCTGGGTGACAGAGTGAGACTCCGTCTCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAGAAAGAAAAAAAGGAGAGAAACTTTCAATGTTCAGAAGTTTCGGATTTTAGAATTGTGGGTAAAACCATGGGTGGCCCTGAGTGGGAAAAAAAAAGCCTCGGTCTCAGTCCTTAGGAGCTCACAATCTGAGAATAAAGCCAGCAGGAGCTAATGTTGGGGCATTTACTCTGAGCCATGCTTTGTTCTAAATTCTTCACACACCTTCCAATAACCCCATGGAGGAAAGGTACTGTTGTTATCGATCCCTGTTTTCCAGATAAGGGATCTGAGGCACAAGGGGTTAAGTCACCTGTGCAAAGTCACATCGGTTTATGCTGACTGTGGAGCCTGAGCTCTTGACCACGAGGCTGGTCAAAGCAGATAGGCCTTGTTTGAGAGCCCTCAGAGTCTGCAGGGGGGGTGTACTAGGTGGGGTCCTACCTGGAAATCACTAGAACAGGAGGTACCAATGGTCAGACCCTGAGCTGTCTCCCCAGTAGGGTCCATCCAACAGGATTATCTTCCCTTAATAGATGGGCTGAGAGAGGTTGAGAGCTTACCCCAAGCCACTCAGTTTATGACA
|
CTACCTAAATAATGCACATGTATTACCTCACGCTTCTGTAGGCGAGAAGTCTAACGCGAGTCTTGCCGCGCTGCAGCCAAGGCGTGGGCAGGACTGTGTTCCTCTGCAGGCACCCGTTGTATCCCTTGCCTGCTCCAGCTTCTGGTGGCCGTCCGCGTCCCTTGGCTCTCGGCCCCTTCCTTCATCTTCAAAGCCTGCAGAGGGGAAGTCGAGTCCTTCTCCTGCCACGTCACTCTGACCATCCCTTCCTGGTCACACCTCCCTTGAACTCTTCGCTTCTGCCCCCTTCGTCCACTTTTAAGGACCCTTGTGATTACACTGGGCTTGAGGGATAATCTGGGATAATCTCCCGATTTTAAGGTCAGCTGATTAGCAACCTTGATTCCCTCTGCAGCCTGAATTCCTCTTTGCCATGTAACATGATGTAGTCACAGATCCTGGGAGTAAGATGTGGACAACTTTGAGGGGCTATCATTCTGCCCCCTACAATATCCTCCCTACCTTTTCTGTGTTTTCTGTGTTTTCCATTCACTGGGACGGACAGGTCTGCACGTTTGTTCCCGTGAGTGAGATCATACCACGTGTATGTCAGAAGCCAACTTTCACCACCTCATTTTGGGATCTTTTTCCACAGCATCCACACAAAAACTCTGTCTAGCAGCTGCCTGTGTCCCATTGTCAAGCTCGATCCCATCATTTATTCAAGAGTTCCCCTGATAGGGATTTAGATTGTTTCCAGTTTTCATCTGTTACCAACCTGGCTGTAGGGAATACCCTTGTTCCAAAAGTCTCTGTACACATACGACTTTCTGTGGGATCATTTCTGGGAGTGAACCTACTAGGTCAACCAGTGGGGTCGCAAAATGTGATGATGCCACCGGACCACCCCCAACACACACCGTTGTGGCGGACACTCCCAGCAGTGGGTATTATTAGTCTGAGATACTTGCCCATCTTGTCTACTAAGCATTATTTTGTATTACATCATCAGTTTCAGCTCATTTACTGAGCACCTGCCACATGTCAGGCCCTGGCCTAGACCCTGGGGACTGCGCCAGTCAGATGTTCTCAGTCTTCAGGGAATTTATGGTTTGGCAGAGGTAGAACCTTTTGAGGCAGGGGAGAGGCTGCCCAGAGACAGAGCTAGGAGAGACATTTAAACTGGGCTGCAGGTCAGTAAATTACCCAGGGAGGTAAAGTTGCCAAAAAAACATTCCAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGCCGGCAGATCACAAGGTCAGAAGTTCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCACGAGGCTGAGGCAGAAGAATCACTTGAACCCAGAGGTGGAGGTTGCAGTGAGCTGAGATTGCTCCACTGCACTCCAGCCTGGGTGACAGAACAAAACTCTGTCTCAAAAACAAAAACAAAAACAAAAAAACCACAAAATTCCAGGCAGTGGGAATAGCTAAAGCTCAGAGGTGTGAACGTGCTGCAACCGTAACTGTGAGATTGCTTGGCAGAGAAAGGCCAGGGATGAGAACGTAAAGGTCAGCCATGGGAACGGGGACTTGACTCTGTAGGACGAGGAATCCCTGGAGGGCTTGAGGCAGGAGCGACAAGGTGAGGTTTGTGAATGAGGAGCCGTGGGGTGGGGGTGGGAGCAGGAGCAGGTGCAGACTGGAGGTGCTGGGACCCAGGAGGAGGTGGTGTACCTGCCCCTGAGCCTTCTCCTCTGGAGGCTGGGGAAGGGCCGCTGTCCAGAGGAACGGGGCAGCCTGTGACACCCTGGCGTCCGGCCCACAGGAGGCATGTGAGCGCAGCCTGGCAGAGATGGAGTCCTCGCACCAGCAGGTGATGGAGGAGCTGCAGCGGCACCACGAGCGGGAGCTGCAGCGCCTGCAGCAGGAGAAGGAGTGGCTCCTGGCTGAGGAGACGGCAGCCACGGCCTCAGGTATGGACCCTGGGCGGGGGCACAGTGGGCTGGGCTCTGAGCCTCTGTGCTGAGGTTCCTCCTAGCCAAACTGGGGAGGATTTTATCAAATAAGATGTAGGGGTCTCAGTGCCACATTTGGGGTAAAGGGTCAGCAGGTGTTAGAAGCTCCAAGAACTGGCCTGTAGCCCTACTTAAAAAGGGAAACTGAGGCAGTAAAAGATACCCTCCCCACCCCCAACACCACCACTACCATAGGTGGTGACTCTTCCTGCTCAGGGGCCTGCAGCCACCATAGAGTCTGCCTAAAGGCACATGCTACCCACGTGCGTGGGGGAGAGGCTGATCAGCTGCATCCCCTGTCCTCATAGGAGTGCCTCCTCCCTGGGCACATGGGCCAGACCCTGGGGAGAGCAGGGGAAGGTGTGAGCATTGTCCATGCCAGCTGTGTGCCAGGCACTGGGCCCCACATGTTTCCCACAGGAGCACCCTTCATCCTGGACAATTCCCTCCCCTCCTGCCACCGCACACCTGCTGTGTGCCTGGCACATTCCTAGGCATCACTAGGGGTTTGCAGAACAATAGAAATGCTGGCCAATGTCACATGATCTGAAGCTCACAACCTGCCAGTGCTGTGCCAAGTGCTCATGCACTCGAACCCAGCCTTGGGGCCAGTGTGCTCTGCATTTCAGGAAGATCGCCTTTGCAGCCGCGTGTGTTAGAGACCCCTTCCCCCTCAGCAGAGTCTGGACTTCGCCCTGTAATCTGGCACTAAGGTTTCTGCTGTGAAATGGATAAAAATCACACTTAAGTGGAATAATAAAGACCATAAATAGCCTCATGTCCGTTCAGGGTGGGGATTGCCACCAAAAGATTTACCAGAGGCCCGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATGGTGGGCAGCTGCAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCTCTTGAACCCAGGAGACAGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGATGACAGAGTAAGACTCCATCAAAAAAAAAAAAGGCCAGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGCATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTATGAATACAAAAATTAGCCATGCGCGGTGGCAGGCGCGTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAAAGTGGGCGGCAAAGGTTGTAGTGAACCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCCTGGGTGACAGAGTGAGACTCCGTCTCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAGAAAGAAAAAAAGGAGAGAAACTTTCAATGTTCAGAAGTTTCGGATTTTAGAATTGTGGGTAAAACCATGGGTGGCCCTGAGTGGGAAAAAAAAAGCCTCGGTCTCAGTCCTTAGGAGCTCACAATCTGAGAATAAAGCCAGCAGGAGCTAATGTTGGGGCATTTACTCTGAGCCATGCTTTGTTCTAAATTCTTCACACACCTTCCAATAACCCCATGGAGGAAAGGTACTGTTGTTATCGATCCCTGTTTTCCAGATAAGGGATCTGAGGCACAAGGGGTTAAGTCACCTGTGCAAAGTCACATCGGTTTATGCTGACTGTGGAGCCTGAGCTCTTGACCACGAGGCTGGTCAAAGCAGATAGGCCTTGTTTGAGAGCCCTCAGAGTCTGCAGGGGGGGTGTACTAGGTGGGGTCCTACCTGGAAATCACTAGAACAGGAGGTACCAATGGTCAGACCCTGAGCTGTCTCCCCAGTAGGGTCCATCCAACAGGATTATCTTCCCTTAATAGATGGGCTGAGAGAGGTTGAGAGCTTACCCCAAGCCACTCAGTTTATGAC
|
benign
| 326,924 |
Does the genetic variant at chromosome 22, position 37765832, impacting gene TRIOBP (TRIO and F-actin binding protein), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
benign
|
TACCTAAATAATGCACATGTATTACCTCACGCTTCTGTAGGCGAGAAGTCTAACGCGAGTCTTGCCGCGCTGCAGCCAAGGCGTGGGCAGGACTGTGTTCCTCTGCAGGCACCCGTTGTATCCCTTGCCTGCTCCAGCTTCTGGTGGCCGTCCGCGTCCCTTGGCTCTCGGCCCCTTCCTTCATCTTCAAAGCCTGCAGAGGGGAAGTCGAGTCCTTCTCCTGCCACGTCACTCTGACCATCCCTTCCTGGTCACACCTCCCTTGAACTCTTCGCTTCTGCCCCCTTCGTCCACTTTTAAGGACCCTTGTGATTACACTGGGCTTGAGGGATAATCTGGGATAATCTCCCGATTTTAAGGTCAGCTGATTAGCAACCTTGATTCCCTCTGCAGCCTGAATTCCTCTTTGCCATGTAACATGATGTAGTCACAGATCCTGGGAGTAAGATGTGGACAACTTTGAGGGGCTATCATTCTGCCCCCTACAATATCCTCCCTACCTTTTCTGTGTTTTCTGTGTTTTCCATTCACTGGGACGGACAGGTCTGCACGTTTGTTCCCGTGAGTGAGATCATACCACGTGTATGTCAGAAGCCAACTTTCACCACCTCATTTTGGGATCTTTTTCCACAGCATCCACACAAAAACTCTGTCTAGCAGCTGCCTGTGTCCCATTGTCAAGCTCGATCCCATCATTTATTCAAGAGTTCCCCTGATAGGGATTTAGATTGTTTCCAGTTTTCATCTGTTACCAACCTGGCTGTAGGGAATACCCTTGTTCCAAAAGTCTCTGTACACATACGACTTTCTGTGGGATCATTTCTGGGAGTGAACCTACTAGGTCAACCAGTGGGGTCGCAAAATGTGATGATGCCACCGGACCACCCCCAACACACACCGTTGTGGCGGACACTCCCAGCAGTGGGTATTATTAGTCTGAGATACTTGCCCATCTTGTCTACTAAGCATTATTTTGTATTACATCATCAGTTTCAGCTCATTTACTGAGCACCTGCCACATGTCAGGCCCTGGCCTAGACCCTGGGGACTGCGCCAGTCAGATGTTCTCAGTCTTCAGGGAATTTATGGTTTGGCAGAGGTAGAACCTTTTGAGGCAGGGGAGAGGCTGCCCAGAGACAGAGCTAGGAGAGACATTTAAACTGGGCTGCAGGTCAGTAAATTACCCAGGGAGGTAAAGTTGCCAAAAAAACATTCCAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGCCGGCAGATCACAAGGTCAGAAGTTCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCACGAGGCTGAGGCAGAAGAATCACTTGAACCCAGAGGTGGAGGTTGCAGTGAGCTGAGATTGCTCCACTGCACTCCAGCCTGGGTGACAGAACAAAACTCTGTCTCAAAAACAAAAACAAAAACAAAAAAACCACAAAATTCCAGGCAGTGGGAATAGCTAAAGCTCAGAGGTGTGAACGTGCTGCAACCGTAACTGTGAGATTGCTTGGCAGAGAAAGGCCAGGGATGAGAACGTAAAGGTCAGCCATGGGAACGGGGACTTGACTCTGTAGGACGAGGAATCCCTGGAGGGCTTGAGGCAGGAGCGACAAGGTGAGGTTTGTGAATGAGGAGCCGTGGGGTGGGGGTGGGAGCAGGAGCAGGTGCAGACTGGAGGTGCTGGGACCCAGGAGGAGGTGGTGTACCTGCCCCTGAGCCTTCTCCTCTGGAGGCTGGGGAAGGGCCGCTGTCCAGAGGAACGGGGCAGCCTGTGACACCCTGGCGTCCGGCCCACAGGAGGCATGTGAGCGCAGCCTGGCAGAGATGGAGTCCTCGCACCAGCAGGTGATGGAGGAGCTGCAGCGGCACCACGAGCGGGAGCTGCAGCGCCTGCAGCAGGAGAAGGAGTGGCTCCTGGCTGAGGAGACGGCAGCCACGGCCTCAGGTATGGACCCTGGGGGGGGCACAGTGGGCTGGGCTCTGAGCCTCTGTGCTGAGGTTCCTCCTAGCCAAACTGGGGAGGATTTTATCAAATAAGATGTAGGGGTCTCAGTGCCACATTTGGGGTAAAGGGTCAGCAGGTGTTAGAAGCTCCAAGAACTGGCCTGTAGCCCTACTTAAAAAGGGAAACTGAGGCAGTAAAAGATACCCTCCCCACCCCCAACACCACCACTACCATAGGTGGTGACTCTTCCTGCTCAGGGGCCTGCAGCCACCATAGAGTCTGCCTAAAGGCACATGCTACCCACGTGCGTGGGGGAGAGGCTGATCAGCTGCATCCCCTGTCCTCATAGGAGTGCCTCCTCCCTGGGCACATGGGCCAGACCCTGGGGAGAGCAGGGGAAGGTGTGAGCATTGTCCATGCCAGCTGTGTGCCAGGCACTGGGCCCCACATGTTTCCCACAGGAGCACCCTTCATCCTGGACAATTCCCTCCCCTCCTGCCACCGCACACCTGCTGTGTGCCTGGCACATTCCTAGGCATCACTAGGGGTTTGCAGAACAATAGAAATGCTGGCCAATGTCACATGATCTGAAGCTCACAACCTGCCAGTGCTGTGCCAAGTGCTCATGCACTCGAACCCAGCCTTGGGGCCAGTGTGCTCTGCATTTCAGGAAGATCGCCTTTGCAGCCGCGTGTGTTAGAGACCCCTTCCCCCTCAGCAGAGTCTGGACTTCGCCCTGTAATCTGGCACTAAGGTTTCTGCTGTGAAATGGATAAAAATCACACTTAAGTGGAATAATAAAGACCATAAATAGCCTCATGTCCGTTCAGGGTGGGGATTGCCACCAAAAGATTTACCAGAGGCCCGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATGGTGGGCAGCTGCAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCTCTTGAACCCAGGAGACAGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGATGACAGAGTAAGACTCCATCAAAAAAAAAAAAGGCCAGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGCATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTATGAATACAAAAATTAGCCATGCGCGGTGGCAGGCGCGTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAAAGTGGGCGGCAAAGGTTGTAGTGAACCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCCTGGGTGACAGAGTGAGACTCCGTCTCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAGAAAGAAAAAAAGGAGAGAAACTTTCAATGTTCAGAAGTTTCGGATTTTAGAATTGTGGGTAAAACCATGGGTGGCCCTGAGTGGGAAAAAAAAAGCCTCGGTCTCAGTCCTTAGGAGCTCACAATCTGAGAATAAAGCCAGCAGGAGCTAATGTTGGGGCATTTACTCTGAGCCATGCTTTGTTCTAAATTCTTCACACACCTTCCAATAACCCCATGGAGGAAAGGTACTGTTGTTATCGATCCCTGTTTTCCAGATAAGGGATCTGAGGCACAAGGGGTTAAGTCACCTGTGCAAAGTCACATCGGTTTATGCTGACTGTGGAGCCTGAGCTCTTGACCACGAGGCTGGTCAAAGCAGATAGGCCTTGTTTGAGAGCCCTCAGAGTCTGCAGGGGGGGTGTACTAGGTGGGGTCCTACCTGGAAATCACTAGAACAGGAGGTACCAATGGTCAGACCCTGAGCTGTCTCCCCAGTAGGGTCCATCCAACAGGATTATCTTCCCTTAATAGATGGGCTGAGAGAGGTTGAGAGCTTACCCCAAGCCACTCAGTTTATGACAC
|
TACCTAAATAATGCACATGTATTACCTCACGCTTCTGTAGGCGAGAAGTCTAACGCGAGTCTTGCCGCGCTGCAGCCAAGGCGTGGGCAGGACTGTGTTCCTCTGCAGGCACCCGTTGTATCCCTTGCCTGCTCCAGCTTCTGGTGGCCGTCCGCGTCCCTTGGCTCTCGGCCCCTTCCTTCATCTTCAAAGCCTGCAGAGGGGAAGTCGAGTCCTTCTCCTGCCACGTCACTCTGACCATCCCTTCCTGGTCACACCTCCCTTGAACTCTTCGCTTCTGCCCCCTTCGTCCACTTTTAAGGACCCTTGTGATTACACTGGGCTTGAGGGATAATCTGGGATAATCTCCCGATTTTAAGGTCAGCTGATTAGCAACCTTGATTCCCTCTGCAGCCTGAATTCCTCTTTGCCATGTAACATGATGTAGTCACAGATCCTGGGAGTAAGATGTGGACAACTTTGAGGGGCTATCATTCTGCCCCCTACAATATCCTCCCTACCTTTTCTGTGTTTTCTGTGTTTTCCATTCACTGGGACGGACAGGTCTGCACGTTTGTTCCCGTGAGTGAGATCATACCACGTGTATGTCAGAAGCCAACTTTCACCACCTCATTTTGGGATCTTTTTCCACAGCATCCACACAAAAACTCTGTCTAGCAGCTGCCTGTGTCCCATTGTCAAGCTCGATCCCATCATTTATTCAAGAGTTCCCCTGATAGGGATTTAGATTGTTTCCAGTTTTCATCTGTTACCAACCTGGCTGTAGGGAATACCCTTGTTCCAAAAGTCTCTGTACACATACGACTTTCTGTGGGATCATTTCTGGGAGTGAACCTACTAGGTCAACCAGTGGGGTCGCAAAATGTGATGATGCCACCGGACCACCCCCAACACACACCGTTGTGGCGGACACTCCCAGCAGTGGGTATTATTAGTCTGAGATACTTGCCCATCTTGTCTACTAAGCATTATTTTGTATTACATCATCAGTTTCAGCTCATTTACTGAGCACCTGCCACATGTCAGGCCCTGGCCTAGACCCTGGGGACTGCGCCAGTCAGATGTTCTCAGTCTTCAGGGAATTTATGGTTTGGCAGAGGTAGAACCTTTTGAGGCAGGGGAGAGGCTGCCCAGAGACAGAGCTAGGAGAGACATTTAAACTGGGCTGCAGGTCAGTAAATTACCCAGGGAGGTAAAGTTGCCAAAAAAACATTCCAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGCCGGCAGATCACAAGGTCAGAAGTTCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCACGAGGCTGAGGCAGAAGAATCACTTGAACCCAGAGGTGGAGGTTGCAGTGAGCTGAGATTGCTCCACTGCACTCCAGCCTGGGTGACAGAACAAAACTCTGTCTCAAAAACAAAAACAAAAACAAAAAAACCACAAAATTCCAGGCAGTGGGAATAGCTAAAGCTCAGAGGTGTGAACGTGCTGCAACCGTAACTGTGAGATTGCTTGGCAGAGAAAGGCCAGGGATGAGAACGTAAAGGTCAGCCATGGGAACGGGGACTTGACTCTGTAGGACGAGGAATCCCTGGAGGGCTTGAGGCAGGAGCGACAAGGTGAGGTTTGTGAATGAGGAGCCGTGGGGTGGGGGTGGGAGCAGGAGCAGGTGCAGACTGGAGGTGCTGGGACCCAGGAGGAGGTGGTGTACCTGCCCCTGAGCCTTCTCCTCTGGAGGCTGGGGAAGGGCCGCTGTCCAGAGGAACGGGGCAGCCTGTGACACCCTGGCGTCCGGCCCACAGGAGGCATGTGAGCGCAGCCTGGCAGAGATGGAGTCCTCGCACCAGCAGGTGATGGAGGAGCTGCAGCGGCACCACGAGCGGGAGCTGCAGCGCCTGCAGCAGGAGAAGGAGTGGCTCCTGGCTGAGGAGACGGCAGCCACGGCCTCAGGTATGGACCCTGGGGCGGGGCACAGTGGGCTGGGCTCTGAGCCTCTGTGCTGAGGTTCCTCCTAGCCAAACTGGGGAGGATTTTATCAAATAAGATGTAGGGGTCTCAGTGCCACATTTGGGGTAAAGGGTCAGCAGGTGTTAGAAGCTCCAAGAACTGGCCTGTAGCCCTACTTAAAAAGGGAAACTGAGGCAGTAAAAGATACCCTCCCCACCCCCAACACCACCACTACCATAGGTGGTGACTCTTCCTGCTCAGGGGCCTGCAGCCACCATAGAGTCTGCCTAAAGGCACATGCTACCCACGTGCGTGGGGGAGAGGCTGATCAGCTGCATCCCCTGTCCTCATAGGAGTGCCTCCTCCCTGGGCACATGGGCCAGACCCTGGGGAGAGCAGGGGAAGGTGTGAGCATTGTCCATGCCAGCTGTGTGCCAGGCACTGGGCCCCACATGTTTCCCACAGGAGCACCCTTCATCCTGGACAATTCCCTCCCCTCCTGCCACCGCACACCTGCTGTGTGCCTGGCACATTCCTAGGCATCACTAGGGGTTTGCAGAACAATAGAAATGCTGGCCAATGTCACATGATCTGAAGCTCACAACCTGCCAGTGCTGTGCCAAGTGCTCATGCACTCGAACCCAGCCTTGGGGCCAGTGTGCTCTGCATTTCAGGAAGATCGCCTTTGCAGCCGCGTGTGTTAGAGACCCCTTCCCCCTCAGCAGAGTCTGGACTTCGCCCTGTAATCTGGCACTAAGGTTTCTGCTGTGAAATGGATAAAAATCACACTTAAGTGGAATAATAAAGACCATAAATAGCCTCATGTCCGTTCAGGGTGGGGATTGCCACCAAAAGATTTACCAGAGGCCCGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGATGGTGGGCAGCTGCAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCTCTTGAACCCAGGAGACAGAGGCTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGATGACAGAGTAAGACTCCATCAAAAAAAAAAAAGGCCAGGCACTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGCATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTATGAATACAAAAATTAGCCATGCGCGGTGGCAGGCGCGTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAAAGTGGGCGGCAAAGGTTGTAGTGAACCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCCTGGGTGACAGAGTGAGACTCCGTCTCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAGAAAGAAAAAAAGGAGAGAAACTTTCAATGTTCAGAAGTTTCGGATTTTAGAATTGTGGGTAAAACCATGGGTGGCCCTGAGTGGGAAAAAAAAAGCCTCGGTCTCAGTCCTTAGGAGCTCACAATCTGAGAATAAAGCCAGCAGGAGCTAATGTTGGGGCATTTACTCTGAGCCATGCTTTGTTCTAAATTCTTCACACACCTTCCAATAACCCCATGGAGGAAAGGTACTGTTGTTATCGATCCCTGTTTTCCAGATAAGGGATCTGAGGCACAAGGGGTTAAGTCACCTGTGCAAAGTCACATCGGTTTATGCTGACTGTGGAGCCTGAGCTCTTGACCACGAGGCTGGTCAAAGCAGATAGGCCTTGTTTGAGAGCCCTCAGAGTCTGCAGGGGGGGTGTACTAGGTGGGGTCCTACCTGGAAATCACTAGAACAGGAGGTACCAATGGTCAGACCCTGAGCTGTCTCCCCAGTAGGGTCCATCCAACAGGATTATCTTCCCTTAATAGATGGGCTGAGAGAGGTTGAGAGCTTACCCCAAGCCACTCAGTTTATGACA
|
benign
| 326,925 |
Does the variant impacting SOX10 on chromosome 22, position 37973536, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['PCWH_syndrome', 'Waardenburg_syndrome_type_2E', 'Waardenburg_syndrome_type_4C']
|
TGTGAGGTGGAGTGGTCCTGGCCTCTGGGTGCAGTTTGGACTTCTGCTGAGGAAAGAGCTCTTAGGGAGTAGGCGCTTAAGGAGTAGACTGTCTGACATCCTTGGTCTGGACTTGGACATGGGCACCTGCTGTGAAGGCTTGGCTAGATCCTGGCGTGGGCTGCTGTGTGTGTGCTGGGGGAGGTGGCAAGTGGGGGGATGCAGCAACACAGGGCCTATCCACACATCCTGAAGGACAGGCCTCTGACTGCAGGCAGCACGGTGTCACCCTCAGCCCACCTCCTCCTCTTCAGATACCTGTCTCTTGAATTCTTTGCAAACTCCCGTCTGCTGAGTGCTGGGTGAGCAGAGGGGCTGCTTGCAAGGCAGTGAGTTCTAGCTGAGCCAGTTAAGAGTGAGTGGCCCCCCTGCAGTGTGGGGCATAGCCGCCGGGCTGGGGAGAAGTTCCCATCTGAGGCTTCAGTCCCTGAGCTCAGATGGACCCCACTGGGATGCCAGCTGTCCTAACACTCTCCATTGTTCCCACTTTCTTAGCAGGGAGAGAGACAGAAAGAGAGAGAGGAGAGTGGGAGGGGGGAGAGAGAGAGAAAGGAGAGGGGGAGGGGGGAGAGAGAGAGAGAAAGAGAGGAGAGAAGGGAGGGGGGAGAGAGAGAGGAGGGGGGAGGGGAAGGGGGTGGGGAAAGAGGGAGGGAGGTGGGAGAGAGAGACCTTTGATGATCTATCCTTTGCATTCTACTCCTAGCTACTTCCAGAAAGCATTTGAGGAAGCACCAGTACAGGGATAAGAGATGAAGAGACAGGCCAGGTCAGGCTCACCAAGCAGGTAACCGGAACCTTTAATTTTATTATGTGGAATGCTTAATGCAGAGTTAATAGGGGCTAGAGTGGCTAGGAGAGGGGACTACTGAGATAAATAACAGGAGACAGTAATGAGTTACATGTGGATTTGGGGGGCTGCAGAACAGGAAAATAGGGGCAGATATAGCTACATACTTTATTCAAATACCACTGGGAGGCAAGGGGTAAGAGGCAAGGGCAGAATGTACAGGTCAGGATTCTAGTGTCTTCAGCCTGCCGACAGCAACCTGGGTGCTGGGCCCTGTGTCTCCTGGAGCCAAGGGTTAGGGCCTGAGCAGCTGTCACTCTCTGGGAAGCCCAGGGAGTGGGGCTGACTGAGCAGGGGCCATAGAGCCTAGTAAGGGAAGAGGGAGCTGGCAAGGAGCCCAGGGAGGGAGGCTCTGTGAATTGTCTCTGATTCCTTTCCTGGAGCCCCTGCCTCGTCACCTCCTGGGATGCGTCTCAAGGTCATGGAGGTTGTAGTGGAGGAGGACTGGGGGCTGTTTCTCAGACAAAGAATGAGGTTATTGGCACAGAATTGGATCAGGGGGCCTCTGTGCCAACTCCTTCCTGCCTTCAGAAAGGGAGGGGGCATTGAAGGGATGAGAACTCCACTAAGTCCCTCGAACCCCCCACTCCCCAATGAGGCTCCTCAAAGCTACTCTCAGCCCCTGAGTGGGAGACACGGCCAGCTCCGGGCACAGTCTCTGGGTGGCCTAGCCCTTAGGCACTGTGGCATAGGTGGCATGGGCATGTCAGACCCTCACTATCTGTGAGAGAGAAAACAGGAGTCATAGGAGTGGTAAGGCCTCCGATGCCACCAACCCTGGTGCTTCCCCTCCCCGAGGAGGGTGAGCAGGCCCTTCTCAGGTCCTGGGATAGAGGGTCATTCCTGGGGGAAGGTGCAGCCCCTCATCTTTCAGTGTGGGTGCAACAGTCAACCTCCTTCTCCTCTGTCCAGCCTGTTCTCCTGGGGCTTTGCTGCTGGAGCCTGGATGGGGCGGGTGGGTCATCAGGGCAGTGAGCCAGACAGAAAGCCCCCCGACCTGTCAGCCTCTTCAGCCTCCTCAGCCTCCTCCACTGCCACCACCAGGCCTGAGGTGGGCAAGGAACAGGGCACACAGGCTGGGGGCAGGGGCTGGGCGGGGGGTGGTGGCGACAGGGCCCCCTTTAGGGCCGGGACAGTGTCGTATATACTGGCTGCTCCCAGTGTGTGGGGCTGTGGGACTGGGGCCCTGAGGGGCTGGGGTCAGAGATGGCCGTGTAGAGGGGCCGCTGCGAGGGCCCCATATAGGAGAAGGCCGAGTAGAGGCCAGAGGCCTGGCCCGAGTGGCCATAATAGGGTCCTGAGGGCTGATGGTCAGAGTAGTCAAACTGGGGGCGGGAGATGGAGGGGAAGGCTGAGCCATAGTGGGGCAGGCTGAGGGAGGTGTAGGCGATCTGTGAGGTGGATGGCTGGTCGGTGTAGTGTGGGGGCCCCTGGGGCCCCGCGGTCTCTGTCTTCACCTGGGCTTTGGCATCCACACCAGGTGGTGAGACCGTGGGCAGAGCCACGCCTGGTGGCTTGGAGATCCAGGCGGAGTGTCCACTGGCCACGGCCAGGGCACTGCCCAGCCCATAGCCGGCTGCTGAGTAGCTGCTCACATGGCCTGGGTGCCCATTGGGCGGCAGGTACTGGTCCAACTCAGCCACATCAAAGGTCTCCATGTTGGACATTACCTCGTGGCTGATCTCACCAATGTCCACGTTGCCGAAGTCGATGTGAGGCTTCCCGCCCTCCCCCATGGAGCGCCCGTCCCGCTTCGGGTCTGCCTTGCCCGACTGCAGCTCTGTCTTCGGGGTGGTTGGAGGGGTGGGTGGGCCATGGCTCTGGCCTGGGTAGAAGGGAGACAGAGAGAGAGAGCGCAAGGGGGAAGCAGGTTAGAGGCAGGTGGGCGCACGTGAACTTCCATGGTTCACCTTCAGGCAGCGGGTGCCTCTGGGAAAACCTTGTAAGTTTCACATTTTGGCAGCATGAGTCGGGTTTTTTTTTGTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAAGCGCCCACCACAATGCCCAGCTAATTTGTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGGTTGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACCATCATGAGCCACTGCGCCCCACAGCATTTGTTTAAATACTGGTGTCTTAGATTGATCTCTAGTTGTTTATGAAATTCTCAAATCTTAGGGATGGGTCCTGGGGAGGCCTGCCTCATTCTGAAAAAACCTTTCCTGTGGAAAGTTCTTCCTCTCATCAGCTTCTCTGCTGTCCAGGTGGTCTGGCCCAGCCTTTGCGCTCTGCCAGCCCCGCTTCCACACCCATGCCTACTGTCTTCCTTGCTGAGCCTCGCTCGCCCAGGCTCCTGAGTGCTCTGTTTCACCTTTGCTGGTTGCCTGGGCCTGCTCCCTGTCCTGGCCTCATGTTGTGTCCTTTCCAACCCTTCCCTCCTCCTGAGCCCACCCTGCTTCCCAGCCCACTGGCAAGCCCTTAGCCCCGTCATACGCTGGCCTGTGTTGCCCTGTTGTTCTTTGAGCTGCCTTCCTCCATGGGAGGGCACTTAGAAAACTGGTCCTTGTTCCTTTGTCTGTTCACTTTCCTATTCACATATTAATTTAGCAAACTCTTAGGGAGCATTACAAAATGCCAGGTACTGTGCCAGGTGCTGGGGATACTAATGTAAATAAAATGGATCCCTGTTCCCAAAAGCTCATAGTCTAGTCATAGATCCATAGATCCACATGCACCCAGAGTTGGAAGTGCTGTGGTGACAATATGCAAGGACTTGGGAGACCAGAGGAGGAGTCCACCCGCTGCCTCAGGGATTTGGGGAAGGTTTGATCAGGGAAGGATGTCTGAGTGGGGTGGGGCCTTGAAGGGTGAGAAAAAGTCTGTGTCCAGTTTCATTCTGAGGTGGTTGCTCTGTATGTGGTCCAGGGTCTCCTGATGTGTGTGTGTGTGTCCCTGAATCTTTGAAGGTGAAGAGTATGTACACGTGTGTGGGAGGGATGACTGCCTGGCATCCCAATGGAGACAGAACATGTCCATGGTCTTAA
|
TGTGAGGTGGAGTGGTCCTGGCCTCTGGGTGCAGTTTGGACTTCTGCTGAGGAAAGAGCTCTTAGGGAGTAGGCGCTTAAGGAGTAGACTGTCTGACATCCTTGGTCTGGACTTGGACATGGGCACCTGCTGTGAAGGCTTGGCTAGATCCTGGCGTGGGCTGCTGTGTGTGTGCTGGGGGAGGTGGCAAGTGGGGGGATGCAGCAACACAGGGCCTATCCACACATCCTGAAGGACAGGCCTCTGACTGCAGGCAGCACGGTGTCACCCTCAGCCCACCTCCTCCTCTTCAGATACCTGTCTCTTGAATTCTTTGCAAACTCCCGTCTGCTGAGTGCTGGGTGAGCAGAGGGGCTGCTTGCAAGGCAGTGAGTTCTAGCTGAGCCAGTTAAGAGTGAGTGGCCCCCCTGCAGTGTGGGGCATAGCCGCCGGGCTGGGGAGAAGTTCCCATCTGAGGCTTCAGTCCCTGAGCTCAGATGGACCCCACTGGGATGCCAGCTGTCCTAACACTCTCCATTGTTCCCACTTTCTTAGCAGGGAGAGAGACAGAAAGAGAGAGAGGAGAGTGGGAGGGGGGAGAGAGAGAGAAAGGAGAGGGGGAGGGGGGAGAGAGAGAGAGAAAGAGAGGAGAGAAGGGAGGGGGGAGAGAGAGAGGAGGGGGGAGGGGAAGGGGGTGGGGAAAGAGGGAGGGAGGTGGGAGAGAGAGACCTTTGATGATCTATCCTTTGCATTCTACTCCTAGCTACTTCCAGAAAGCATTTGAGGAAGCACCAGTACAGGGATAAGAGATGAAGAGACAGGCCAGGTCAGGCTCACCAAGCAGGTAACCGGAACCTTTAATTTTATTATGTGGAATGCTTAATGCAGAGTTAATAGGGGCTAGAGTGGCTAGGAGAGGGGACTACTGAGATAAATAACAGGAGACAGTAATGAGTTACATGTGGATTTGGGGGGCTGCAGAACAGGAAAATAGGGGCAGATATAGCTACATACTTTATTCAAATACCACTGGGAGGCAAGGGGTAAGAGGCAAGGGCAGAATGTACAGGTCAGGATTCTAGTGTCTTCAGCCTGCCGACAGCAACCTGGGTGCTGGGCCCTGTGTCTCCTGGAGCCAAGGGTTAGGGCCTGAGCAGCTGTCACTCTCTGGGAAGCCCAGGGAGTGGGGCTGACTGAGCAGGGGCCATAGAGCCTAGTAAGGGAAGAGGGAGCTGGCAAGGAGCCCAGGGAGGGAGGCTCTGTGAATTGTCTCTGATTCCTTTCCTGGAGCCCCTGCCTCGTCACCTCCTGGGATGCGTCTCAAGGTCATGGAGGTTGTAGTGGAGGAGGACTGGGGGCTGTTTCTCAGACAAAGAATGAGGTTATTGGCACAGAATTGGATCAGGGGGCCTCTGTGCCAACTCCTTCCTGCCTTCAGAAAGGGAGGGGGCATTGAAGGGATGAGAACTCCACTAAGTCCCTCGAACCCCCCACTCCCCAATGAGGCTCCTCAAAGCTACTCTCAGCCCCTGAGTGGGAGACACGGCCAGCTCCGGGCACAGTCTCTGGGTGGCCTAGCCCTTAGGCACTGTGGCATAGGTGGCATGGGCATGTCAGACCCTCACTATCTGTGAGAGAGAAAACAGGAGTCATAGGAGTGGTAAGGCCTCCGATGCCACCAACCCTGGTGCTTCCCCTCCCCGAGGAGGGTGAGCAGGCCCTTCTCAGGTCCTGGGATAGAGGGTCATTCCTGGGGGAAGGTGCAGCCCCTCATCTTTCAGTGTGGGTGCAACAGTCAACCTCCTTCTCCTCTGTCCAGCCTGTTCTCCTGGGGCTTTGCTGCTGGAGCCTGGATGGGGCGGGTGGGTCATCAGGGCAGTGAGCCAGACAGAAAGCCCCCCGACCTGTCAGCCTCTTCAGCCTCCTCAGCCTCCTCCACTGCCACCACCAGGCCTGAGGTGGGCAAGGAACAGGGCACACAGGCTGGGGGCAGGGGCTGGGCGGGGGGTGGTGGCGACAGGGCCCCCTTTAGGGCCGGGACAGTGTCGTATATACTGGCTGCTCCCAGTGTGTGGGGCTGTGGGGCTGTGGGACTGGGGCCCTGAGGGGCTGGGGTCAGAGATGGCCGTGTAGAGGGGCCGCTGCGAGGGCCCCATATAGGAGAAGGCCGAGTAGAGGCCAGAGGCCTGGCCCGAGTGGCCATAATAGGGTCCTGAGGGCTGATGGTCAGAGTAGTCAAACTGGGGGCGGGAGATGGAGGGGAAGGCTGAGCCATAGTGGGGCAGGCTGAGGGAGGTGTAGGCGATCTGTGAGGTGGATGGCTGGTCGGTGTAGTGTGGGGGCCCCTGGGGCCCCGCGGTCTCTGTCTTCACCTGGGCTTTGGCATCCACACCAGGTGGTGAGACCGTGGGCAGAGCCACGCCTGGTGGCTTGGAGATCCAGGCGGAGTGTCCACTGGCCACGGCCAGGGCACTGCCCAGCCCATAGCCGGCTGCTGAGTAGCTGCTCACATGGCCTGGGTGCCCATTGGGCGGCAGGTACTGGTCCAACTCAGCCACATCAAAGGTCTCCATGTTGGACATTACCTCGTGGCTGATCTCACCAATGTCCACGTTGCCGAAGTCGATGTGAGGCTTCCCGCCCTCCCCCATGGAGCGCCCGTCCCGCTTCGGGTCTGCCTTGCCCGACTGCAGCTCTGTCTTCGGGGTGGTTGGAGGGGTGGGTGGGCCATGGCTCTGGCCTGGGTAGAAGGGAGACAGAGAGAGAGAGCGCAAGGGGGAAGCAGGTTAGAGGCAGGTGGGCGCACGTGAACTTCCATGGTTCACCTTCAGGCAGCGGGTGCCTCTGGGAAAACCTTGTAAGTTTCACATTTTGGCAGCATGAGTCGGGTTTTTTTTTGTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAAGCGCCCACCACAATGCCCAGCTAATTTGTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGGTTGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACCATCATGAGCCACTGCGCCCCACAGCATTTGTTTAAATACTGGTGTCTTAGATTGATCTCTAGTTGTTTATGAAATTCTCAAATCTTAGGGATGGGTCCTGGGGAGGCCTGCCTCATTCTGAAAAAACCTTTCCTGTGGAAAGTTCTTCCTCTCATCAGCTTCTCTGCTGTCCAGGTGGTCTGGCCCAGCCTTTGCGCTCTGCCAGCCCCGCTTCCACACCCATGCCTACTGTCTTCCTTGCTGAGCCTCGCTCGCCCAGGCTCCTGAGTGCTCTGTTTCACCTTTGCTGGTTGCCTGGGCCTGCTCCCTGTCCTGGCCTCATGTTGTGTCCTTTCCAACCCTTCCCTCCTCCTGAGCCCACCCTGCTTCCCAGCCCACTGGCAAGCCCTTAGCCCCGTCATACGCTGGCCTGTGTTGCCCTGTTGTTCTTTGAGCTGCCTTCCTCCATGGGAGGGCACTTAGAAAACTGGTCCTTGTTCCTTTGTCTGTTCACTTTCCTATTCACATATTAATTTAGCAAACTCTTAGGGAGCATTACAAAATGCCAGGTACTGTGCCAGGTGCTGGGGATACTAATGTAAATAAAATGGATCCCTGTTCCCAAAAGCTCATAGTCTAGTCATAGATCCATAGATCCACATGCACCCAGAGTTGGAAGTGCTGTGGTGACAATATGCAAGGACTTGGGAGACCAGAGGAGGAGTCCACCCGCTGCCTCAGGGATTTGGGGAAGGTTTGATCAGGGAAGGATGTCTGAGTGGGGTGGGGCCTTGAAGGGTGAGAAAAAGTCTGTGTCCAGTTTCATTCTGAGGTGGTTGCTCTGTATGTGGTCCAGGGTCTCCTGATGTGTGTGTGTGTGTCCCTGAATCTTTGAAGGTGAAGAGTATGTACACGTGTGTGGGAGGGATGACTGCCTGGCATCCCAATGGAGACAGAACATGTCCAT
|
pathogenic
| 326,947 |
Variant on chromosome 22, at position 37973788, affecting SOX10: is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Waardenburg_syndrome_type_4C']
|
GGCAGCACGGTGTCACCCTCAGCCCACCTCCTCCTCTTCAGATACCTGTCTCTTGAATTCTTTGCAAACTCCCGTCTGCTGAGTGCTGGGTGAGCAGAGGGGCTGCTTGCAAGGCAGTGAGTTCTAGCTGAGCCAGTTAAGAGTGAGTGGCCCCCCTGCAGTGTGGGGCATAGCCGCCGGGCTGGGGAGAAGTTCCCATCTGAGGCTTCAGTCCCTGAGCTCAGATGGACCCCACTGGGATGCCAGCTGTCCTAACACTCTCCATTGTTCCCACTTTCTTAGCAGGGAGAGAGACAGAAAGAGAGAGAGGAGAGTGGGAGGGGGGAGAGAGAGAGAAAGGAGAGGGGGAGGGGGGAGAGAGAGAGAGAAAGAGAGGAGAGAAGGGAGGGGGGAGAGAGAGAGGAGGGGGGAGGGGAAGGGGGTGGGGAAAGAGGGAGGGAGGTGGGAGAGAGAGACCTTTGATGATCTATCCTTTGCATTCTACTCCTAGCTACTTCCAGAAAGCATTTGAGGAAGCACCAGTACAGGGATAAGAGATGAAGAGACAGGCCAGGTCAGGCTCACCAAGCAGGTAACCGGAACCTTTAATTTTATTATGTGGAATGCTTAATGCAGAGTTAATAGGGGCTAGAGTGGCTAGGAGAGGGGACTACTGAGATAAATAACAGGAGACAGTAATGAGTTACATGTGGATTTGGGGGGCTGCAGAACAGGAAAATAGGGGCAGATATAGCTACATACTTTATTCAAATACCACTGGGAGGCAAGGGGTAAGAGGCAAGGGCAGAATGTACAGGTCAGGATTCTAGTGTCTTCAGCCTGCCGACAGCAACCTGGGTGCTGGGCCCTGTGTCTCCTGGAGCCAAGGGTTAGGGCCTGAGCAGCTGTCACTCTCTGGGAAGCCCAGGGAGTGGGGCTGACTGAGCAGGGGCCATAGAGCCTAGTAAGGGAAGAGGGAGCTGGCAAGGAGCCCAGGGAGGGAGGCTCTGTGAATTGTCTCTGATTCCTTTCCTGGAGCCCCTGCCTCGTCACCTCCTGGGATGCGTCTCAAGGTCATGGAGGTTGTAGTGGAGGAGGACTGGGGGCTGTTTCTCAGACAAAGAATGAGGTTATTGGCACAGAATTGGATCAGGGGGCCTCTGTGCCAACTCCTTCCTGCCTTCAGAAAGGGAGGGGGCATTGAAGGGATGAGAACTCCACTAAGTCCCTCGAACCCCCCACTCCCCAATGAGGCTCCTCAAAGCTACTCTCAGCCCCTGAGTGGGAGACACGGCCAGCTCCGGGCACAGTCTCTGGGTGGCCTAGCCCTTAGGCACTGTGGCATAGGTGGCATGGGCATGTCAGACCCTCACTATCTGTGAGAGAGAAAACAGGAGTCATAGGAGTGGTAAGGCCTCCGATGCCACCAACCCTGGTGCTTCCCCTCCCCGAGGAGGGTGAGCAGGCCCTTCTCAGGTCCTGGGATAGAGGGTCATTCCTGGGGGAAGGTGCAGCCCCTCATCTTTCAGTGTGGGTGCAACAGTCAACCTCCTTCTCCTCTGTCCAGCCTGTTCTCCTGGGGCTTTGCTGCTGGAGCCTGGATGGGGCGGGTGGGTCATCAGGGCAGTGAGCCAGACAGAAAGCCCCCCGACCTGTCAGCCTCTTCAGCCTCCTCAGCCTCCTCCACTGCCACCACCAGGCCTGAGGTGGGCAAGGAACAGGGCACACAGGCTGGGGGCAGGGGCTGGGCGGGGGGTGGTGGCGACAGGGCCCCCTTTAGGGCCGGGACAGTGTCGTATATACTGGCTGCTCCCAGTGTGTGGGGCTGTGGGACTGGGGCCCTGAGGGGCTGGGGTCAGAGATGGCCGTGTAGAGGGGCCGCTGCGAGGGCCCCATATAGGAGAAGGCCGAGTAGAGGCCAGAGGCCTGGCCCGAGTGGCCATAATAGGGTCCTGAGGGCTGATGGTCAGAGTAGTCAAACTGGGGGCGGGAGATGGAGGGGAAGGCTGAGCCATAGTGGGGCAGGCTGAGGGAGGTGTAGGCGATCTGTGAGGTGGATGGCTGGTCGGTGTAGTGTGGGGGCCCCTGGGGCCCCGCGGTCTCTGTCTTCACCTGGGCTTTGGCATCCACACCAGGTGGTGAGACCGTGGGCAGAGCCACGCCTGGTGGCTTGGAGATCCAGGCGGAGTGTCCACTGGCCACGGCCAGGGCACTGCCCAGCCCATAGCCGGCTGCTGAGTAGCTGCTCACATGGCCTGGGTGCCCATTGGGCGGCAGGTACTGGTCCAACTCAGCCACATCAAAGGTCTCCATGTTGGACATTACCTCGTGGCTGATCTCACCAATGTCCACGTTGCCGAAGTCGATGTGAGGCTTCCCGCCCTCCCCCATGGAGCGCCCGTCCCGCTTCGGGTCTGCCTTGCCCGACTGCAGCTCTGTCTTCGGGGTGGTTGGAGGGGTGGGTGGGCCATGGCTCTGGCCTGGGTAGAAGGGAGACAGAGAGAGAGAGCGCAAGGGGGAAGCAGGTTAGAGGCAGGTGGGCGCACGTGAACTTCCATGGTTCACCTTCAGGCAGCGGGTGCCTCTGGGAAAACCTTGTAAGTTTCACATTTTGGCAGCATGAGTCGGGTTTTTTTTTGTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAAGCGCCCACCACAATGCCCAGCTAATTTGTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGGTTGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACCATCATGAGCCACTGCGCCCCACAGCATTTGTTTAAATACTGGTGTCTTAGATTGATCTCTAGTTGTTTATGAAATTCTCAAATCTTAGGGATGGGTCCTGGGGAGGCCTGCCTCATTCTGAAAAAACCTTTCCTGTGGAAAGTTCTTCCTCTCATCAGCTTCTCTGCTGTCCAGGTGGTCTGGCCCAGCCTTTGCGCTCTGCCAGCCCCGCTTCCACACCCATGCCTACTGTCTTCCTTGCTGAGCCTCGCTCGCCCAGGCTCCTGAGTGCTCTGTTTCACCTTTGCTGGTTGCCTGGGCCTGCTCCCTGTCCTGGCCTCATGTTGTGTCCTTTCCAACCCTTCCCTCCTCCTGAGCCCACCCTGCTTCCCAGCCCACTGGCAAGCCCTTAGCCCCGTCATACGCTGGCCTGTGTTGCCCTGTTGTTCTTTGAGCTGCCTTCCTCCATGGGAGGGCACTTAGAAAACTGGTCCTTGTTCCTTTGTCTGTTCACTTTCCTATTCACATATTAATTTAGCAAACTCTTAGGGAGCATTACAAAATGCCAGGTACTGTGCCAGGTGCTGGGGATACTAATGTAAATAAAATGGATCCCTGTTCCCAAAAGCTCATAGTCTAGTCATAGATCCATAGATCCACATGCACCCAGAGTTGGAAGTGCTGTGGTGACAATATGCAAGGACTTGGGAGACCAGAGGAGGAGTCCACCCGCTGCCTCAGGGATTTGGGGAAGGTTTGATCAGGGAAGGATGTCTGAGTGGGGTGGGGCCTTGAAGGGTGAGAAAAAGTCTGTGTCCAGTTTCATTCTGAGGTGGTTGCTCTGTATGTGGTCCAGGGTCTCCTGATGTGTGTGTGTGTGTCCCTGAATCTTTGAAGGTGAAGAGTATGTACACGTGTGTGGGAGGGATGACTGCCTGGCATCCCAATGGAGACAGAACATGTCCATGGTCTTAAGAGACTAGGAGCTCCCCAAGGACAGGCCTGTGCCTCCTTCATCAGACCAGAGGCAGCGCCAAGTCCTGCATTGGCCAAGGGCTCTGTACTTCAAGAGACCTGCCTAGGCTTTTGAATCCTGGTTCTGTGTCTGGACAAATCCCCAGTCTTCTCTTAACTAGTTTCCTTATCAGTAAAATAGAGATTGTACCAAGCAGCCCAGGCATTGCCTCTTTCTGGAAGCCTTCCTTGACAAGAGTCTGGTGGGCAGTG
|
GGCAGCACGGTGTCACCCTCAGCCCACCTCCTCCTCTTCAGATACCTGTCTCTTGAATTCTTTGCAAACTCCCGTCTGCTGAGTGCTGGGTGAGCAGAGGGGCTGCTTGCAAGGCAGTGAGTTCTAGCTGAGCCAGTTAAGAGTGAGTGGCCCCCCTGCAGTGTGGGGCATAGCCGCCGGGCTGGGGAGAAGTTCCCATCTGAGGCTTCAGTCCCTGAGCTCAGATGGACCCCACTGGGATGCCAGCTGTCCTAACACTCTCCATTGTTCCCACTTTCTTAGCAGGGAGAGAGACAGAAAGAGAGAGAGGAGAGTGGGAGGGGGGAGAGAGAGAGAAAGGAGAGGGGGAGGGGGGAGAGAGAGAGAGAAAGAGAGGAGAGAAGGGAGGGGGGAGAGAGAGAGGAGGGGGGAGGGGAAGGGGGTGGGGAAAGAGGGAGGGAGGTGGGAGAGAGAGACCTTTGATGATCTATCCTTTGCATTCTACTCCTAGCTACTTCCAGAAAGCATTTGAGGAAGCACCAGTACAGGGATAAGAGATGAAGAGACAGGCCAGGTCAGGCTCACCAAGCAGGTAACCGGAACCTTTAATTTTATTATGTGGAATGCTTAATGCAGAGTTAATAGGGGCTAGAGTGGCTAGGAGAGGGGACTACTGAGATAAATAACAGGAGACAGTAATGAGTTACATGTGGATTTGGGGGGCTGCAGAACAGGAAAATAGGGGCAGATATAGCTACATACTTTATTCAAATACCACTGGGAGGCAAGGGGTAAGAGGCAAGGGCAGAATGTACAGGTCAGGATTCTAGTGTCTTCAGCCTGCCGACAGCAACCTGGGTGCTGGGCCCTGTGTCTCCTGGAGCCAAGGGTTAGGGCCTGAGCAGCTGTCACTCTCTGGGAAGCCCAGGGAGTGGGGCTGACTGAGCAGGGGCCATAGAGCCTAGTAAGGGAAGAGGGAGCTGGCAAGGAGCCCAGGGAGGGAGGCTCTGTGAATTGTCTCTGATTCCTTTCCTGGAGCCCCTGCCTCGTCACCTCCTGGGATGCGTCTCAAGGTCATGGAGGTTGTAGTGGAGGAGGACTGGGGGCTGTTTCTCAGACAAAGAATGAGGTTATTGGCACAGAATTGGATCAGGGGGCCTCTGTGCCAACTCCTTCCTGCCTTCAGAAAGGGAGGGGGCATTGAAGGGATGAGAACTCCACTAAGTCCCTCGAACCCCCCACTCCCCAATGAGGCTCCTCAAAGCTACTCTCAGCCCCTGAGTGGGAGACACGGCCAGCTCCGGGCACAGTCTCTGGGTGGCCTAGCCCTTAGGCACTGTGGCATAGGTGGCATGGGCATGTCAGACCCTCACTATCTGTGAGAGAGAAAACAGGAGTCATAGGAGTGGTAAGGCCTCCGATGCCACCAACCCTGGTGCTTCCCCTCCCCGAGGAGGGTGAGCAGGCCCTTCTCAGGTCCTGGGATAGAGGGTCATTCCTGGGGGAAGGTGCAGCCCCTCATCTTTCAGTGTGGGTGCAACAGTCAACCTCCTTCTCCTCTGTCCAGCCTGTTCTCCTGGGGCTTTGCTGCTGGAGCCTGGATGGGGCGGGTGGGTCATCAGGGCAGTGAGCCAGACAGAAAGCCCCCCGACCTGTCAGCCTCTTCAGCCTCCTCAGCCTCCTCCACTGCCACCACCAGGCCTGAGGTGGGCAAGGAACAGGGCACACAGGCTGGGGGCAGGGGCTGGGCGGGGGGTGGTGGCGACAGGGCCCCCTTTAGGGCCGGGACAGTGTCGTATATACTGGCTGCTCCCAGTGTGTGGGGCTGTGGGACTGGGGCCCTGAGGGGCTGGGGTCAGAGATGGCCGTGTAGAGGGGCCGCTGCGAGGGCCCCATATAGGAGAAGGCCGAGTAGAGGCCAGAGGCCTGGCCCGAGTGGCCATAATAGGGTCCTGAGGGCTGATGGTCAGAGTAGTCAAACTGGGGGCGGGAGATGGAGGGGAAGGCTGAGCCATAGTGGGGCAGGCTGAGGGAGGTGTAGGCGATCTGTGAGGTGGATGGCTGGTCGGTTAGTGTGGGGGCCCCTGGGGCCCCGCGGTCTCTGTCTTCACCTGGGCTTTGGCATCCACACCAGGTGGTGAGACCGTGGGCAGAGCCACGCCTGGTGGCTTGGAGATCCAGGCGGAGTGTCCACTGGCCACGGCCAGGGCACTGCCCAGCCCATAGCCGGCTGCTGAGTAGCTGCTCACATGGCCTGGGTGCCCATTGGGCGGCAGGTACTGGTCCAACTCAGCCACATCAAAGGTCTCCATGTTGGACATTACCTCGTGGCTGATCTCACCAATGTCCACGTTGCCGAAGTCGATGTGAGGCTTCCCGCCCTCCCCCATGGAGCGCCCGTCCCGCTTCGGGTCTGCCTTGCCCGACTGCAGCTCTGTCTTCGGGGTGGTTGGAGGGGTGGGTGGGCCATGGCTCTGGCCTGGGTAGAAGGGAGACAGAGAGAGAGAGCGCAAGGGGGAAGCAGGTTAGAGGCAGGTGGGCGCACGTGAACTTCCATGGTTCACCTTCAGGCAGCGGGTGCCTCTGGGAAAACCTTGTAAGTTTCACATTTTGGCAGCATGAGTCGGGTTTTTTTTTGTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAAGCGCCCACCACAATGCCCAGCTAATTTGTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGGTTGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACCATCATGAGCCACTGCGCCCCACAGCATTTGTTTAAATACTGGTGTCTTAGATTGATCTCTAGTTGTTTATGAAATTCTCAAATCTTAGGGATGGGTCCTGGGGAGGCCTGCCTCATTCTGAAAAAACCTTTCCTGTGGAAAGTTCTTCCTCTCATCAGCTTCTCTGCTGTCCAGGTGGTCTGGCCCAGCCTTTGCGCTCTGCCAGCCCCGCTTCCACACCCATGCCTACTGTCTTCCTTGCTGAGCCTCGCTCGCCCAGGCTCCTGAGTGCTCTGTTTCACCTTTGCTGGTTGCCTGGGCCTGCTCCCTGTCCTGGCCTCATGTTGTGTCCTTTCCAACCCTTCCCTCCTCCTGAGCCCACCCTGCTTCCCAGCCCACTGGCAAGCCCTTAGCCCCGTCATACGCTGGCCTGTGTTGCCCTGTTGTTCTTTGAGCTGCCTTCCTCCATGGGAGGGCACTTAGAAAACTGGTCCTTGTTCCTTTGTCTGTTCACTTTCCTATTCACATATTAATTTAGCAAACTCTTAGGGAGCATTACAAAATGCCAGGTACTGTGCCAGGTGCTGGGGATACTAATGTAAATAAAATGGATCCCTGTTCCCAAAAGCTCATAGTCTAGTCATAGATCCATAGATCCACATGCACCCAGAGTTGGAAGTGCTGTGGTGACAATATGCAAGGACTTGGGAGACCAGAGGAGGAGTCCACCCGCTGCCTCAGGGATTTGGGGAAGGTTTGATCAGGGAAGGATGTCTGAGTGGGGTGGGGCCTTGAAGGGTGAGAAAAAGTCTGTGTCCAGTTTCATTCTGAGGTGGTTGCTCTGTATGTGGTCCAGGGTCTCCTGATGTGTGTGTGTGTGTCCCTGAATCTTTGAAGGTGAAGAGTATGTACACGTGTGTGGGAGGGATGACTGCCTGGCATCCCAATGGAGACAGAACATGTCCATGGTCTTAAGAGACTAGGAGCTCCCCAAGGACAGGCCTGTGCCTCCTTCATCAGACCAGAGGCAGCGCCAAGTCCTGCATTGGCCAAGGGCTCTGTACTTCAAGAGACCTGCCTAGGCTTTTGAATCCTGGTTCTGTGTCTGGACAAATCCCCAGTCTTCTCTTAACTAGTTTCCTTATCAGTAAAATAGAGATTGTACCAAGCAGCCCAGGCATTGCCTCTTTCTGGAAGCCTTCCTTGACAAGAGTCTGGTGGGCAGTGN
|
pathogenic
| 326,952 |
Clinical significance of chromosome 22, position 37973809, gene SOX10: benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Waardenburg_syndrome_type_2E']
|
GCCCACCTCCTCCTCTTCAGATACCTGTCTCTTGAATTCTTTGCAAACTCCCGTCTGCTGAGTGCTGGGTGAGCAGAGGGGCTGCTTGCAAGGCAGTGAGTTCTAGCTGAGCCAGTTAAGAGTGAGTGGCCCCCCTGCAGTGTGGGGCATAGCCGCCGGGCTGGGGAGAAGTTCCCATCTGAGGCTTCAGTCCCTGAGCTCAGATGGACCCCACTGGGATGCCAGCTGTCCTAACACTCTCCATTGTTCCCACTTTCTTAGCAGGGAGAGAGACAGAAAGAGAGAGAGGAGAGTGGGAGGGGGGAGAGAGAGAGAAAGGAGAGGGGGAGGGGGGAGAGAGAGAGAGAAAGAGAGGAGAGAAGGGAGGGGGGAGAGAGAGAGGAGGGGGGAGGGGAAGGGGGTGGGGAAAGAGGGAGGGAGGTGGGAGAGAGAGACCTTTGATGATCTATCCTTTGCATTCTACTCCTAGCTACTTCCAGAAAGCATTTGAGGAAGCACCAGTACAGGGATAAGAGATGAAGAGACAGGCCAGGTCAGGCTCACCAAGCAGGTAACCGGAACCTTTAATTTTATTATGTGGAATGCTTAATGCAGAGTTAATAGGGGCTAGAGTGGCTAGGAGAGGGGACTACTGAGATAAATAACAGGAGACAGTAATGAGTTACATGTGGATTTGGGGGGCTGCAGAACAGGAAAATAGGGGCAGATATAGCTACATACTTTATTCAAATACCACTGGGAGGCAAGGGGTAAGAGGCAAGGGCAGAATGTACAGGTCAGGATTCTAGTGTCTTCAGCCTGCCGACAGCAACCTGGGTGCTGGGCCCTGTGTCTCCTGGAGCCAAGGGTTAGGGCCTGAGCAGCTGTCACTCTCTGGGAAGCCCAGGGAGTGGGGCTGACTGAGCAGGGGCCATAGAGCCTAGTAAGGGAAGAGGGAGCTGGCAAGGAGCCCAGGGAGGGAGGCTCTGTGAATTGTCTCTGATTCCTTTCCTGGAGCCCCTGCCTCGTCACCTCCTGGGATGCGTCTCAAGGTCATGGAGGTTGTAGTGGAGGAGGACTGGGGGCTGTTTCTCAGACAAAGAATGAGGTTATTGGCACAGAATTGGATCAGGGGGCCTCTGTGCCAACTCCTTCCTGCCTTCAGAAAGGGAGGGGGCATTGAAGGGATGAGAACTCCACTAAGTCCCTCGAACCCCCCACTCCCCAATGAGGCTCCTCAAAGCTACTCTCAGCCCCTGAGTGGGAGACACGGCCAGCTCCGGGCACAGTCTCTGGGTGGCCTAGCCCTTAGGCACTGTGGCATAGGTGGCATGGGCATGTCAGACCCTCACTATCTGTGAGAGAGAAAACAGGAGTCATAGGAGTGGTAAGGCCTCCGATGCCACCAACCCTGGTGCTTCCCCTCCCCGAGGAGGGTGAGCAGGCCCTTCTCAGGTCCTGGGATAGAGGGTCATTCCTGGGGGAAGGTGCAGCCCCTCATCTTTCAGTGTGGGTGCAACAGTCAACCTCCTTCTCCTCTGTCCAGCCTGTTCTCCTGGGGCTTTGCTGCTGGAGCCTGGATGGGGCGGGTGGGTCATCAGGGCAGTGAGCCAGACAGAAAGCCCCCCGACCTGTCAGCCTCTTCAGCCTCCTCAGCCTCCTCCACTGCCACCACCAGGCCTGAGGTGGGCAAGGAACAGGGCACACAGGCTGGGGGCAGGGGCTGGGCGGGGGGTGGTGGCGACAGGGCCCCCTTTAGGGCCGGGACAGTGTCGTATATACTGGCTGCTCCCAGTGTGTGGGGCTGTGGGACTGGGGCCCTGAGGGGCTGGGGTCAGAGATGGCCGTGTAGAGGGGCCGCTGCGAGGGCCCCATATAGGAGAAGGCCGAGTAGAGGCCAGAGGCCTGGCCCGAGTGGCCATAATAGGGTCCTGAGGGCTGATGGTCAGAGTAGTCAAACTGGGGGCGGGAGATGGAGGGGAAGGCTGAGCCATAGTGGGGCAGGCTGAGGGAGGTGTAGGCGATCTGTGAGGTGGATGGCTGGTCGGTGTAGTGTGGGGGCCCCTGGGGCCCCGCGGTCTCTGTCTTCACCTGGGCTTTGGCATCCACACCAGGTGGTGAGACCGTGGGCAGAGCCACGCCTGGTGGCTTGGAGATCCAGGCGGAGTGTCCACTGGCCACGGCCAGGGCACTGCCCAGCCCATAGCCGGCTGCTGAGTAGCTGCTCACATGGCCTGGGTGCCCATTGGGCGGCAGGTACTGGTCCAACTCAGCCACATCAAAGGTCTCCATGTTGGACATTACCTCGTGGCTGATCTCACCAATGTCCACGTTGCCGAAGTCGATGTGAGGCTTCCCGCCCTCCCCCATGGAGCGCCCGTCCCGCTTCGGGTCTGCCTTGCCCGACTGCAGCTCTGTCTTCGGGGTGGTTGGAGGGGTGGGTGGGCCATGGCTCTGGCCTGGGTAGAAGGGAGACAGAGAGAGAGAGCGCAAGGGGGAAGCAGGTTAGAGGCAGGTGGGCGCACGTGAACTTCCATGGTTCACCTTCAGGCAGCGGGTGCCTCTGGGAAAACCTTGTAAGTTTCACATTTTGGCAGCATGAGTCGGGTTTTTTTTTGTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAAGCGCCCACCACAATGCCCAGCTAATTTGTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGGTTGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACCATCATGAGCCACTGCGCCCCACAGCATTTGTTTAAATACTGGTGTCTTAGATTGATCTCTAGTTGTTTATGAAATTCTCAAATCTTAGGGATGGGTCCTGGGGAGGCCTGCCTCATTCTGAAAAAACCTTTCCTGTGGAAAGTTCTTCCTCTCATCAGCTTCTCTGCTGTCCAGGTGGTCTGGCCCAGCCTTTGCGCTCTGCCAGCCCCGCTTCCACACCCATGCCTACTGTCTTCCTTGCTGAGCCTCGCTCGCCCAGGCTCCTGAGTGCTCTGTTTCACCTTTGCTGGTTGCCTGGGCCTGCTCCCTGTCCTGGCCTCATGTTGTGTCCTTTCCAACCCTTCCCTCCTCCTGAGCCCACCCTGCTTCCCAGCCCACTGGCAAGCCCTTAGCCCCGTCATACGCTGGCCTGTGTTGCCCTGTTGTTCTTTGAGCTGCCTTCCTCCATGGGAGGGCACTTAGAAAACTGGTCCTTGTTCCTTTGTCTGTTCACTTTCCTATTCACATATTAATTTAGCAAACTCTTAGGGAGCATTACAAAATGCCAGGTACTGTGCCAGGTGCTGGGGATACTAATGTAAATAAAATGGATCCCTGTTCCCAAAAGCTCATAGTCTAGTCATAGATCCATAGATCCACATGCACCCAGAGTTGGAAGTGCTGTGGTGACAATATGCAAGGACTTGGGAGACCAGAGGAGGAGTCCACCCGCTGCCTCAGGGATTTGGGGAAGGTTTGATCAGGGAAGGATGTCTGAGTGGGGTGGGGCCTTGAAGGGTGAGAAAAAGTCTGTGTCCAGTTTCATTCTGAGGTGGTTGCTCTGTATGTGGTCCAGGGTCTCCTGATGTGTGTGTGTGTGTCCCTGAATCTTTGAAGGTGAAGAGTATGTACACGTGTGTGGGAGGGATGACTGCCTGGCATCCCAATGGAGACAGAACATGTCCATGGTCTTAAGAGACTAGGAGCTCCCCAAGGACAGGCCTGTGCCTCCTTCATCAGACCAGAGGCAGCGCCAAGTCCTGCATTGGCCAAGGGCTCTGTACTTCAAGAGACCTGCCTAGGCTTTTGAATCCTGGTTCTGTGTCTGGACAAATCCCCAGTCTTCTCTTAACTAGTTTCCTTATCAGTAAAATAGAGATTGTACCAAGCAGCCCAGGCATTGCCTCTTTCTGGAAGCCTTCCTTGACAAGAGTCTGGTGGGCAGTGGGGTGTTCTTGGAGACCTGAC
|
GCCCACCTCCTCCTCTTCAGATACCTGTCTCTTGAATTCTTTGCAAACTCCCGTCTGCTGAGTGCTGGGTGAGCAGAGGGGCTGCTTGCAAGGCAGTGAGTTCTAGCTGAGCCAGTTAAGAGTGAGTGGCCCCCCTGCAGTGTGGGGCATAGCCGCCGGGCTGGGGAGAAGTTCCCATCTGAGGCTTCAGTCCCTGAGCTCAGATGGACCCCACTGGGATGCCAGCTGTCCTAACACTCTCCATTGTTCCCACTTTCTTAGCAGGGAGAGAGACAGAAAGAGAGAGAGGAGAGTGGGAGGGGGGAGAGAGAGAGAAAGGAGAGGGGGAGGGGGGAGAGAGAGAGAGAAAGAGAGGAGAGAAGGGAGGGGGGAGAGAGAGAGGAGGGGGGAGGGGAAGGGGGTGGGGAAAGAGGGAGGGAGGTGGGAGAGAGAGACCTTTGATGATCTATCCTTTGCATTCTACTCCTAGCTACTTCCAGAAAGCATTTGAGGAAGCACCAGTACAGGGATAAGAGATGAAGAGACAGGCCAGGTCAGGCTCACCAAGCAGGTAACCGGAACCTTTAATTTTATTATGTGGAATGCTTAATGCAGAGTTAATAGGGGCTAGAGTGGCTAGGAGAGGGGACTACTGAGATAAATAACAGGAGACAGTAATGAGTTACATGTGGATTTGGGGGGCTGCAGAACAGGAAAATAGGGGCAGATATAGCTACATACTTTATTCAAATACCACTGGGAGGCAAGGGGTAAGAGGCAAGGGCAGAATGTACAGGTCAGGATTCTAGTGTCTTCAGCCTGCCGACAGCAACCTGGGTGCTGGGCCCTGTGTCTCCTGGAGCCAAGGGTTAGGGCCTGAGCAGCTGTCACTCTCTGGGAAGCCCAGGGAGTGGGGCTGACTGAGCAGGGGCCATAGAGCCTAGTAAGGGAAGAGGGAGCTGGCAAGGAGCCCAGGGAGGGAGGCTCTGTGAATTGTCTCTGATTCCTTTCCTGGAGCCCCTGCCTCGTCACCTCCTGGGATGCGTCTCAAGGTCATGGAGGTTGTAGTGGAGGAGGACTGGGGGCTGTTTCTCAGACAAAGAATGAGGTTATTGGCACAGAATTGGATCAGGGGGCCTCTGTGCCAACTCCTTCCTGCCTTCAGAAAGGGAGGGGGCATTGAAGGGATGAGAACTCCACTAAGTCCCTCGAACCCCCCACTCCCCAATGAGGCTCCTCAAAGCTACTCTCAGCCCCTGAGTGGGAGACACGGCCAGCTCCGGGCACAGTCTCTGGGTGGCCTAGCCCTTAGGCACTGTGGCATAGGTGGCATGGGCATGTCAGACCCTCACTATCTGTGAGAGAGAAAACAGGAGTCATAGGAGTGGTAAGGCCTCCGATGCCACCAACCCTGGTGCTTCCCCTCCCCGAGGAGGGTGAGCAGGCCCTTCTCAGGTCCTGGGATAGAGGGTCATTCCTGGGGGAAGGTGCAGCCCCTCATCTTTCAGTGTGGGTGCAACAGTCAACCTCCTTCTCCTCTGTCCAGCCTGTTCTCCTGGGGCTTTGCTGCTGGAGCCTGGATGGGGCGGGTGGGTCATCAGGGCAGTGAGCCAGACAGAAAGCCCCCCGACCTGTCAGCCTCTTCAGCCTCCTCAGCCTCCTCCACTGCCACCACCAGGCCTGAGGTGGGCAAGGAACAGGGCACACAGGCTGGGGGCAGGGGCTGGGCGGGGGGTGGTGGCGACAGGGCCCCCTTTAGGGCCGGGACAGTGTCGTATATACTGGCTGCTCCCAGTGTGTGGGGCTGTGGGACTGGGGCCCTGAGGGGCTGGGGTCAGAGATGGCCGTGTAGAGGGGCCGCTGCGAGGGCCCCATATAGGAGAAGGCCGAGTAGAGGCCAGAGGCCTGGCCCGAGTGGCCATAATAGGGTCCTGAGGGCTGATGGTCAGAGTAGTCAAACTGGGGGCGGGAGATGGAGGGGAAGGCTGAGCCATAGTGGGGCAGGCTGAGGGAGGTGTAGGCGATCTGTGAGGTGGATGGCTGGTCGGTGTAGTGTGGGGGCCCCTGGGGCCCCCGCGGTCTCTGTCTTCACCTGGGCTTTGGCATCCACACCAGGTGGTGAGACCGTGGGCAGAGCCACGCCTGGTGGCTTGGAGATCCAGGCGGAGTGTCCACTGGCCACGGCCAGGGCACTGCCCAGCCCATAGCCGGCTGCTGAGTAGCTGCTCACATGGCCTGGGTGCCCATTGGGCGGCAGGTACTGGTCCAACTCAGCCACATCAAAGGTCTCCATGTTGGACATTACCTCGTGGCTGATCTCACCAATGTCCACGTTGCCGAAGTCGATGTGAGGCTTCCCGCCCTCCCCCATGGAGCGCCCGTCCCGCTTCGGGTCTGCCTTGCCCGACTGCAGCTCTGTCTTCGGGGTGGTTGGAGGGGTGGGTGGGCCATGGCTCTGGCCTGGGTAGAAGGGAGACAGAGAGAGAGAGCGCAAGGGGGAAGCAGGTTAGAGGCAGGTGGGCGCACGTGAACTTCCATGGTTCACCTTCAGGCAGCGGGTGCCTCTGGGAAAACCTTGTAAGTTTCACATTTTGGCAGCATGAGTCGGGTTTTTTTTTGTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAAGCGCCCACCACAATGCCCAGCTAATTTGTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGGTTGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACCATCATGAGCCACTGCGCCCCACAGCATTTGTTTAAATACTGGTGTCTTAGATTGATCTCTAGTTGTTTATGAAATTCTCAAATCTTAGGGATGGGTCCTGGGGAGGCCTGCCTCATTCTGAAAAAACCTTTCCTGTGGAAAGTTCTTCCTCTCATCAGCTTCTCTGCTGTCCAGGTGGTCTGGCCCAGCCTTTGCGCTCTGCCAGCCCCGCTTCCACACCCATGCCTACTGTCTTCCTTGCTGAGCCTCGCTCGCCCAGGCTCCTGAGTGCTCTGTTTCACCTTTGCTGGTTGCCTGGGCCTGCTCCCTGTCCTGGCCTCATGTTGTGTCCTTTCCAACCCTTCCCTCCTCCTGAGCCCACCCTGCTTCCCAGCCCACTGGCAAGCCCTTAGCCCCGTCATACGCTGGCCTGTGTTGCCCTGTTGTTCTTTGAGCTGCCTTCCTCCATGGGAGGGCACTTAGAAAACTGGTCCTTGTTCCTTTGTCTGTTCACTTTCCTATTCACATATTAATTTAGCAAACTCTTAGGGAGCATTACAAAATGCCAGGTACTGTGCCAGGTGCTGGGGATACTAATGTAAATAAAATGGATCCCTGTTCCCAAAAGCTCATAGTCTAGTCATAGATCCATAGATCCACATGCACCCAGAGTTGGAAGTGCTGTGGTGACAATATGCAAGGACTTGGGAGACCAGAGGAGGAGTCCACCCGCTGCCTCAGGGATTTGGGGAAGGTTTGATCAGGGAAGGATGTCTGAGTGGGGTGGGGCCTTGAAGGGTGAGAAAAAGTCTGTGTCCAGTTTCATTCTGAGGTGGTTGCTCTGTATGTGGTCCAGGGTCTCCTGATGTGTGTGTGTGTGTCCCTGAATCTTTGAAGGTGAAGAGTATGTACACGTGTGTGGGAGGGATGACTGCCTGGCATCCCAATGGAGACAGAACATGTCCATGGTCTTAAGAGACTAGGAGCTCCCCAAGGACAGGCCTGTGCCTCCTTCATCAGACCAGAGGCAGCGCCAAGTCCTGCATTGGCCAAGGGCTCTGTACTTCAAGAGACCTGCCTAGGCTTTTGAATCCTGGTTCTGTGTCTGGACAAATCCCCAGTCTTCTCTTAACTAGTTTCCTTATCAGTAAAATAGAGATTGTACCAAGCAGCCCAGGCATTGCCTCTTTCTGGAAGCCTTCCTTGACAAGAGTCTGGTGGGCAGTGGGGTGTTCTTGGAGACCTGA
|
pathogenic
| 326,954 |
Variant in SOX10, chromosome 22, position 37983643—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Waardenburg_syndrome_type_4C']
|
GGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGGCCTGGGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCTACCACTCTAAGCCTCTAGACCCAATCTCTACCCAACTGTGGCTGGCAAGGGGGAGGGCAGCGGAAGAGAGCCGGGCTCCTCTGACAAAGCCCTAATTTTCTGGAACCCAGATGCTCCTCACTCTTGTTCTCATCTTCTTGCTTCCCCCCAACCTCCTGACCACTCCTCAAAGTGTAGGTGATCCACCACTGTCACCAGGGTCAGGGGAAGTCCTCTGGACAGAGAGTATGGGAGTCCTGGGTTCTGGCCCTGGCTCTGCTACCAACTTCTATGTGACCTTTGTGATTCCTTTGCCTTTCTGGGCCTGTCTCTTGGTCAGTCTAGCGAGAATCAGGTGACTGCTACCGGCTCACATCTCCTGGAGTCCCTGGTCTCTTTCAGAGCTGCTCTGGCACTCCCGGGTGGGAGTGGGGGACTGTCTTGTTCCACACATCCCCAGGAGGCCTGGCTGAACCCCAGACCTGAGTCGAGGGTGGGATAATTGCTCCCTGCGGGGGATGTTTTTCCTAGAGGTGTGGGCTGGTCCCAGGGAACCTGGGACTCTGAGGGCCCCTGGGCAGGAAGGAGGCCAAGGTTTCCTTCTGGCCAGAGTGCTCAGCTCCAGCTCTGGGGCAGTGGGGAAGAGGTTGCTCAACGTTGGGGTGGGGCCCTGGCAGGGAAGATGGCGCCGAACTGGGAGAGGGAGGAAAGAGATCAGCTTGGTGACTCTGGGGCAGGGCAGGAGGGGGAGCCCCTTACTGTGTGTCCTCTCCCTAGGAGGATGAAGAAGCCCCCAACTCAAAGGAGGGTGGCGTCAGAAAGTCCCAGGGAAGAGCCCTAGGATAGGATGAGGTCCCGCAGCAGCAGATTTGTCCCGCAGTTCTTCATCCCTCACTCTTCCAAAGACTCTCATCTGAATTCCGTTTTCTTTAAACCTCCCCTGAGTTCTCCATCTGACTGCCTCAGTTTCCCTGAATCTCCAGCCAACCCTTTGGTTCTTTCCAAGCGTTTCCCTCGTATCCTCCTGACCACAGCAGCTGGTGGCATAGTGTGCGTATCTGTGGGCAGGAGTTAGTGAAGGCCTCCTTCCCTCCCTCCAAAGCCCCAGGCCCCACGGTCTGCCACCCGCAAAATTCCAACCACGAGGGGGCGCCTTCCTGCCCGCCGCCCCGTAGGGAGACCCGGCCTAGGCCGCTGGAGTTCCGAGTTCCAGGGTCCTTGTGATGGAAGGGCGGGCGCGGCCCCCACACCTGGTCTTCCAGCCCTATCCAAGGAGGACTGCCAGACAGTCCCGCTCTGAGGTGCAGGAGGCCGGGCCGCCTCGGCTACCCTGAATCCACCCGAAGCTAGAGGGCCCGAGCCCGGGGGGCGGTCGGGTGCTCACCTCCAGAGCTTGCCCAGCGTCTTGCTGAGCTCAGCGTTGTGCAGGTGCGGGTACTGGTCCGCGAGCTTCCTGCGCGCTGCCTGAGCCCACACCATGAAGGCGTTCATGGGCCGCTTGACGTGCGGCTTGCTTTTGCTGGCGCCGTTGACGCGCACGGGCATGGGCACCAGCGTCCAGTCGTAGCCGCTGAGCACCTGGCTGACGGCCTCGCGGATGCACACGGGGAACTTGTCATCGTCCGCCTCGCCGTCCTGCTGCTCCTTCTTGACCTTGCCCAGCTCGCCTGGCCCCGGGCTGGCTCGCAGGCCCGATCCGCCGCCGCCGCCGTCGGGCCCTAGCGAGGGCGCGCTCCCCGGGGACAGGCAGCGGGGCTCCTCCGAGCCCACGGGGCTCAGCTCCACCTCCGATAGGTCCTGCTCCTCCGCCATGTCGCCCCCGGCCGCCGCCGCCGCCGCCTCGGCCGCCTCCCCCGGGCCAGCCGCCGGGGTCCTCGCAAAGAGTCCAACGCCCACCTGGATGGAAGGAGGGCGCGATGGAGCGGCCGCGCGCGCAGCCCCGAGGGCGGCCCGAGACAGGACGTGGGCACAGCCCCGAGGTGGCGGCCCTTCCTGCTCCAGCTAAACCCATCTGGCCCCTGGGGCCCACGCACATGCCAGACTCTAGGTGGGTGCGTCCCGCCTCTGTGTCTTCCCACCACCTGGTCCCAACCGTCTCTTGGTGTGGGTGGCTTTTTTTTTAGCCTCCTTTTTTGGGTGGAGGTTTGTTGATGATAAGGAAGAAAAAAACGGAGCCTTTATTTTGCTCTAATCCCGGCCCCTGGAATTTCCCACCTTTTCTCTCACCTTTCCTTCTTCCCTCAGCCTGCCCCAACGGGGTTTAGAGGAGAGCCAGGTGGGGGGCAAGGGCGGGGTGTCGCCTCTCTCCACCTCACAGCAGGGTCCCAGGCCTGGGCGGGCCAGGGAGGAGCAGGCTGCGCACTCACCTCCTCGGACCTCTCCTCCAGTCTGGGGCTCGTCCTTAGGAAGTGGAAAACCGTGTCCCAAGGTGTGCGGTCCAGCTCGGGGCTGGGAGGTGACGCTGGTGGGCTGGGAGGGAGGGGCGGGGGGCCCTGAGCCTCAGGCCACGGCCTCGTTAGGACGGAGCCTGAATCCTTACCACCAACCACCCTGGCCGGACAGCCCGAGACTGACTGAGCGACTGAGCCTGAGCCGCTGCGGAGGGCTGGGGAAGGAAGGAGGGGGAGAGGGGGGAGGGGAGAGGAGGGAGGGAAGGGCAGAAGGTGGAGCCTCCAGGCTTTCCTTCATCCCCAACACTCAGGGCTCCTCCACCCGGAGCCCAGGCCCCCCCACCCAGCTCCCTGCCCTACTGCCCAGGCCCATCTTGCTGAGGCTTATCTTGGGCTTAGTCTGGGAGGTGGAGGGGAGGTTAGGCCGAGGAAGGAAGAGATGTAGGCTGGAGGGTCAGAACCTGTTGGATGGAAGAAAATTGGGCCCAACCAGGACTCCTAACGTCTGCCTCAGGTGGCAGGATGGGCACTTGGCAGGGGACTAGGGAGAGACGTGAAGGCGGTGAGGGTCCTGGGGGCCCGTGAGGGTGGCTGGCCCTAGCTGCTTCGTCTGCGAAATCCTGTTGAGTGCCTAGTGTGTGCCAGGCACTGATGCCCAGCTCCTCACCCTGCCTCCTACCTTTTCCCAGGCAGCCCTTTCTGCCCCATCCTGCACAGTAAGAGAGACTTCTCAGGGATCCCTCTGAGAAGTGCAGAGCCCCAGCTTGACCCCTGGTCCCTTCTCTGCAGACACCCAGCACACGCGCGTTCTGGTCTGGTTCAAGGTGGAAACACAAGACTAAAGCTGCCAGGAGGCCAAGGTGGGACAGGTTGGGGGCCCTCTCTCAGTAGGTCTTAGAGGCATTTTGGGTTGCTACCTACTGGGACCCAGCTCCTTCCACACTGGGCTCACCCTGTCTTGGGAGAGGGTAGGGGAGTCCTAGTCCTGATTGTCACGAAGTCCTCTACTCCCCCACCCCAACAAGGGGTGGGGACTTGCCCTGCCTCTTCCCTCCTCTGCCCACCTCTCCCTCCCTCCCCTTTTCTTTCCTGCCCATCCTCCGTTGACACCTTTTTCTCTCTCTTTCCTTGGCCTCTCCTCCAAAGGTCGCAGTGCTGTTCTCTTAACTGAGGGCAGCCCCGCCGGGGTGTTGAGGCCGAGGTGGGGTGTATGTGGGTTATGTAATGGAGCTGGGGTCGCATTGGCAACCATGTGACGTTCTGAGCTCCTCAACAGCAGGGCAAAGCCCCAAGACCACCCCAAGGGGTCCTGTCTGGAGTGGGCTGCA
|
GGTCCGTCCTTGCTTTGACTCTCGTTGGGCTCGTACTGTGGTCTTCTCATGGTCCCCAGAGTCTGCCCTATCTGTATGTCTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGGCCTGGGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCTACCACTCTAAGCCTCTAGACCCAATCTCTACCCAACTGTGGCTGGCAAGGGGGAGGGCAGCGGAAGAGAGCCGGGCTCCTCTGACAAAGCCCTAATTTTCTGGAACCCAGATGCTCCTCACTCTTGTTCTCATCTTCTTGCTTCCCCCCAACCTCCTGACCACTCCTCAAAGTGTAGGTGATCCACCACTGTCACCAGGGTCAGGGGAAGTCCTCTGGACAGAGAGTATGGGAGTCCTGGGTTCTGGCCCTGGCTCTGCTACCAACTTCTATGTGACCTTTGTGATTCCTTTGCCTTTCTGGGCCTGTCTCTTGGTCAGTCTAGCGAGAATCAGGTGACTGCTACCGGCTCACATCTCCTGGAGTCCCTGGTCTCTTTCAGAGCTGCTCTGGCACTCCCGGGTGGGAGTGGGGGACTGTCTTGTTCCACACATCCCCAGGAGGCCTGGCTGAACCCCAGACCTGAGTCGAGGGTGGGATAATTGCTCCCTGCGGGGGATGTTTTTCCTAGAGGTGTGGGCTGGTCCCAGGGAACCTGGGACTCTGAGGGCCCCTGGGCAGGAAGGAGGCCAAGGTTTCCTTCTGGCCAGAGTGCTCAGCTCCAGCTCTGGGGCAGTGGGGAAGAGGTTGCTCAACGTTGGGGTGGGGCCCTGGCAGGGAAGATGGCGCCGAACTGGGAGAGGGAGGAAAGAGATCAGCTTGGTGACTCTGGGGCAGGGCAGGAGGGGGAGCCCCTTACTGTGTGTCCTCTCCCTAGGAGGATGAAGAAGCCCCCAACTCAAAGGAGGGTGGCGTCAGAAAGTCCCAGGGAAGAGCCCTAGGATAGGATGAGGTCCCGCAGCAGCAGATTTGTCCCGCAGTTCTTCATCCCTCACTCTTCCAAAGACTCTCATCTGAATTCCGTTTTCTTTAAACCTCCCCTGAGTTCTCCATCTGACTGCCTCAGTTTCCCTGAATCTCCAGCCAACCCTTTGGTTCTTTCCAAGCGTTTCCCTCGTATCCTCCTGACCACAGCAGCTGGTGGCATAGTGTGCGTATCTGTGGGCAGGAGTTAGTGAAGGCCTCCTTCCCTCCCTCCAAAGCCCCAGGCCCCACGGTCTGCCACCCGCAAAATTCCAACCACGAGGGGGCGCCTTCCTGCCCGCCGCCCCGTAGGGAGACCCGGCCTAGGCCGCTGGAGTTCCGAGTTCCAGGGTCCTTGTGATGGAAGGGCGGGCGCGGCCCCCACACCTGGTCTTCCAGCCCTATCCAAGGAGGACTGCCAGACAGTCCCGCTCTGAGGTGCAGGAGGCCGGGCCGCCTCGGCTACCCTGAATCCACCCGAAGCTAGAGGGCCCGAGCCCGGGGGGCGGTCGGGTGCTCACCTCCAGAGCTTGCCCAGCGTCTTGCTGAGCTCAGCGTTGTGCAGGTGCGGGTACTGGTCCGCGAGCTTCCTGCGCGCTGCCTGAGCCCACACCATGAAGGCGTTCATGGGCCGCTTGACGTGCGGCTTGCTTTTGCTGGCGCCGTTGACGCGCACGGGCATGGGCACCAGCGTCCAGTCGTAGCCGCTGAGCACCTGGCTGACGGCCTCGCGGATGCACACGGGGAACTTGTCATCGTCCGCCTCGCCGTCCTGCTGCTCCTTCTTGACCTTGCCCAGCTCGCCTGGCCCGGGCTGGCTCGCAGGCCCGATCCGCCGCCGCCGCCGTCGGGCCCTAGCGAGGGCGCGCTCCCCGGGGACAGGCAGCGGGGCTCCTCCGAGCCCACGGGGCTCAGCTCCACCTCCGATAGGTCCTGCTCCTCCGCCATGTCGCCCCCGGCCGCCGCCGCCGCCGCCTCGGCCGCCTCCCCCGGGCCAGCCGCCGGGGTCCTCGCAAAGAGTCCAACGCCCACCTGGATGGAAGGAGGGCGCGATGGAGCGGCCGCGCGCGCAGCCCCGAGGGCGGCCCGAGACAGGACGTGGGCACAGCCCCGAGGTGGCGGCCCTTCCTGCTCCAGCTAAACCCATCTGGCCCCTGGGGCCCACGCACATGCCAGACTCTAGGTGGGTGCGTCCCGCCTCTGTGTCTTCCCACCACCTGGTCCCAACCGTCTCTTGGTGTGGGTGGCTTTTTTTTTAGCCTCCTTTTTTGGGTGGAGGTTTGTTGATGATAAGGAAGAAAAAAACGGAGCCTTTATTTTGCTCTAATCCCGGCCCCTGGAATTTCCCACCTTTTCTCTCACCTTTCCTTCTTCCCTCAGCCTGCCCCAACGGGGTTTAGAGGAGAGCCAGGTGGGGGGCAAGGGCGGGGTGTCGCCTCTCTCCACCTCACAGCAGGGTCCCAGGCCTGGGCGGGCCAGGGAGGAGCAGGCTGCGCACTCACCTCCTCGGACCTCTCCTCCAGTCTGGGGCTCGTCCTTAGGAAGTGGAAAACCGTGTCCCAAGGTGTGCGGTCCAGCTCGGGGCTGGGAGGTGACGCTGGTGGGCTGGGAGGGAGGGGCGGGGGGCCCTGAGCCTCAGGCCACGGCCTCGTTAGGACGGAGCCTGAATCCTTACCACCAACCACCCTGGCCGGACAGCCCGAGACTGACTGAGCGACTGAGCCTGAGCCGCTGCGGAGGGCTGGGGAAGGAAGGAGGGGGAGAGGGGGGAGGGGAGAGGAGGGAGGGAAGGGCAGAAGGTGGAGCCTCCAGGCTTTCCTTCATCCCCAACACTCAGGGCTCCTCCACCCGGAGCCCAGGCCCCCCCACCCAGCTCCCTGCCCTACTGCCCAGGCCCATCTTGCTGAGGCTTATCTTGGGCTTAGTCTGGGAGGTGGAGGGGAGGTTAGGCCGAGGAAGGAAGAGATGTAGGCTGGAGGGTCAGAACCTGTTGGATGGAAGAAAATTGGGCCCAACCAGGACTCCTAACGTCTGCCTCAGGTGGCAGGATGGGCACTTGGCAGGGGACTAGGGAGAGACGTGAAGGCGGTGAGGGTCCTGGGGGCCCGTGAGGGTGGCTGGCCCTAGCTGCTTCGTCTGCGAAATCCTGTTGAGTGCCTAGTGTGTGCCAGGCACTGATGCCCAGCTCCTCACCCTGCCTCCTACCTTTTCCCAGGCAGCCCTTTCTGCCCCATCCTGCACAGTAAGAGAGACTTCTCAGGGATCCCTCTGAGAAGTGCAGAGCCCCAGCTTGACCCCTGGTCCCTTCTCTGCAGACACCCAGCACACGCGCGTTCTGGTCTGGTTCAAGGTGGAAACACAAGACTAAAGCTGCCAGGAGGCCAAGGTGGGACAGGTTGGGGGCCCTCTCTCAGTAGGTCTTAGAGGCATTTTGGGTTGCTACCTACTGGGACCCAGCTCCTTCCACACTGGGCTCACCCTGTCTTGGGAGAGGGTAGGGGAGTCCTAGTCCTGATTGTCACGAAGTCCTCTACTCCCCCACCCCAACAAGGGGTGGGGACTTGCCCTGCCTCTTCCCTCCTCTGCCCACCTCTCCCTCCCTCCCCTTTTCTTTCCTGCCCATCCTCCGTTGACACCTTTTTCTCTCTCTTTCCTTGGCCTCTCCTCCAAAGGTCGCAGTGCTGTTCTCTTAACTGAGGGCAGCCCCGCCGGGGTGTTGAGGCCGAGGTGGGGTGTATGTGGGTTATGTAATGGAGCTGGGGTCGCATTGGCAACCATGTGACGTTCTGAGCTCCTCAACAGCAGGGCAAAGCCCCAAGACCACCCCAAGGGGTCCTGTCTGGAGTGGGCTGCAN
|
pathogenic
| 326,982 |
Variant in SOX10, chromosome 22, position 37983722—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Waardenburg_syndrome_type_2A', 'Waardenburg_syndrome_type_4C']
|
CTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGGCCTGGGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCTACCACTCTAAGCCTCTAGACCCAATCTCTACCCAACTGTGGCTGGCAAGGGGGAGGGCAGCGGAAGAGAGCCGGGCTCCTCTGACAAAGCCCTAATTTTCTGGAACCCAGATGCTCCTCACTCTTGTTCTCATCTTCTTGCTTCCCCCCAACCTCCTGACCACTCCTCAAAGTGTAGGTGATCCACCACTGTCACCAGGGTCAGGGGAAGTCCTCTGGACAGAGAGTATGGGAGTCCTGGGTTCTGGCCCTGGCTCTGCTACCAACTTCTATGTGACCTTTGTGATTCCTTTGCCTTTCTGGGCCTGTCTCTTGGTCAGTCTAGCGAGAATCAGGTGACTGCTACCGGCTCACATCTCCTGGAGTCCCTGGTCTCTTTCAGAGCTGCTCTGGCACTCCCGGGTGGGAGTGGGGGACTGTCTTGTTCCACACATCCCCAGGAGGCCTGGCTGAACCCCAGACCTGAGTCGAGGGTGGGATAATTGCTCCCTGCGGGGGATGTTTTTCCTAGAGGTGTGGGCTGGTCCCAGGGAACCTGGGACTCTGAGGGCCCCTGGGCAGGAAGGAGGCCAAGGTTTCCTTCTGGCCAGAGTGCTCAGCTCCAGCTCTGGGGCAGTGGGGAAGAGGTTGCTCAACGTTGGGGTGGGGCCCTGGCAGGGAAGATGGCGCCGAACTGGGAGAGGGAGGAAAGAGATCAGCTTGGTGACTCTGGGGCAGGGCAGGAGGGGGAGCCCCTTACTGTGTGTCCTCTCCCTAGGAGGATGAAGAAGCCCCCAACTCAAAGGAGGGTGGCGTCAGAAAGTCCCAGGGAAGAGCCCTAGGATAGGATGAGGTCCCGCAGCAGCAGATTTGTCCCGCAGTTCTTCATCCCTCACTCTTCCAAAGACTCTCATCTGAATTCCGTTTTCTTTAAACCTCCCCTGAGTTCTCCATCTGACTGCCTCAGTTTCCCTGAATCTCCAGCCAACCCTTTGGTTCTTTCCAAGCGTTTCCCTCGTATCCTCCTGACCACAGCAGCTGGTGGCATAGTGTGCGTATCTGTGGGCAGGAGTTAGTGAAGGCCTCCTTCCCTCCCTCCAAAGCCCCAGGCCCCACGGTCTGCCACCCGCAAAATTCCAACCACGAGGGGGCGCCTTCCTGCCCGCCGCCCCGTAGGGAGACCCGGCCTAGGCCGCTGGAGTTCCGAGTTCCAGGGTCCTTGTGATGGAAGGGCGGGCGCGGCCCCCACACCTGGTCTTCCAGCCCTATCCAAGGAGGACTGCCAGACAGTCCCGCTCTGAGGTGCAGGAGGCCGGGCCGCCTCGGCTACCCTGAATCCACCCGAAGCTAGAGGGCCCGAGCCCGGGGGGCGGTCGGGTGCTCACCTCCAGAGCTTGCCCAGCGTCTTGCTGAGCTCAGCGTTGTGCAGGTGCGGGTACTGGTCCGCGAGCTTCCTGCGCGCTGCCTGAGCCCACACCATGAAGGCGTTCATGGGCCGCTTGACGTGCGGCTTGCTTTTGCTGGCGCCGTTGACGCGCACGGGCATGGGCACCAGCGTCCAGTCGTAGCCGCTGAGCACCTGGCTGACGGCCTCGCGGATGCACACGGGGAACTTGTCATCGTCCGCCTCGCCGTCCTGCTGCTCCTTCTTGACCTTGCCCAGCTCGCCTGGCCCCGGGCTGGCTCGCAGGCCCGATCCGCCGCCGCCGCCGTCGGGCCCTAGCGAGGGCGCGCTCCCCGGGGACAGGCAGCGGGGCTCCTCCGAGCCCACGGGGCTCAGCTCCACCTCCGATAGGTCCTGCTCCTCCGCCATGTCGCCCCCGGCCGCCGCCGCCGCCGCCTCGGCCGCCTCCCCCGGGCCAGCCGCCGGGGTCCTCGCAAAGAGTCCAACGCCCACCTGGATGGAAGGAGGGCGCGATGGAGCGGCCGCGCGCGCAGCCCCGAGGGCGGCCCGAGACAGGACGTGGGCACAGCCCCGAGGTGGCGGCCCTTCCTGCTCCAGCTAAACCCATCTGGCCCCTGGGGCCCACGCACATGCCAGACTCTAGGTGGGTGCGTCCCGCCTCTGTGTCTTCCCACCACCTGGTCCCAACCGTCTCTTGGTGTGGGTGGCTTTTTTTTTAGCCTCCTTTTTTGGGTGGAGGTTTGTTGATGATAAGGAAGAAAAAAACGGAGCCTTTATTTTGCTCTAATCCCGGCCCCTGGAATTTCCCACCTTTTCTCTCACCTTTCCTTCTTCCCTCAGCCTGCCCCAACGGGGTTTAGAGGAGAGCCAGGTGGGGGGCAAGGGCGGGGTGTCGCCTCTCTCCACCTCACAGCAGGGTCCCAGGCCTGGGCGGGCCAGGGAGGAGCAGGCTGCGCACTCACCTCCTCGGACCTCTCCTCCAGTCTGGGGCTCGTCCTTAGGAAGTGGAAAACCGTGTCCCAAGGTGTGCGGTCCAGCTCGGGGCTGGGAGGTGACGCTGGTGGGCTGGGAGGGAGGGGCGGGGGGCCCTGAGCCTCAGGCCACGGCCTCGTTAGGACGGAGCCTGAATCCTTACCACCAACCACCCTGGCCGGACAGCCCGAGACTGACTGAGCGACTGAGCCTGAGCCGCTGCGGAGGGCTGGGGAAGGAAGGAGGGGGAGAGGGGGGAGGGGAGAGGAGGGAGGGAAGGGCAGAAGGTGGAGCCTCCAGGCTTTCCTTCATCCCCAACACTCAGGGCTCCTCCACCCGGAGCCCAGGCCCCCCCACCCAGCTCCCTGCCCTACTGCCCAGGCCCATCTTGCTGAGGCTTATCTTGGGCTTAGTCTGGGAGGTGGAGGGGAGGTTAGGCCGAGGAAGGAAGAGATGTAGGCTGGAGGGTCAGAACCTGTTGGATGGAAGAAAATTGGGCCCAACCAGGACTCCTAACGTCTGCCTCAGGTGGCAGGATGGGCACTTGGCAGGGGACTAGGGAGAGACGTGAAGGCGGTGAGGGTCCTGGGGGCCCGTGAGGGTGGCTGGCCCTAGCTGCTTCGTCTGCGAAATCCTGTTGAGTGCCTAGTGTGTGCCAGGCACTGATGCCCAGCTCCTCACCCTGCCTCCTACCTTTTCCCAGGCAGCCCTTTCTGCCCCATCCTGCACAGTAAGAGAGACTTCTCAGGGATCCCTCTGAGAAGTGCAGAGCCCCAGCTTGACCCCTGGTCCCTTCTCTGCAGACACCCAGCACACGCGCGTTCTGGTCTGGTTCAAGGTGGAAACACAAGACTAAAGCTGCCAGGAGGCCAAGGTGGGACAGGTTGGGGGCCCTCTCTCAGTAGGTCTTAGAGGCATTTTGGGTTGCTACCTACTGGGACCCAGCTCCTTCCACACTGGGCTCACCCTGTCTTGGGAGAGGGTAGGGGAGTCCTAGTCCTGATTGTCACGAAGTCCTCTACTCCCCCACCCCAACAAGGGGTGGGGACTTGCCCTGCCTCTTCCCTCCTCTGCCCACCTCTCCCTCCCTCCCCTTTTCTTTCCTGCCCATCCTCCGTTGACACCTTTTTCTCTCTCTTTCCTTGGCCTCTCCTCCAAAGGTCGCAGTGCTGTTCTCTTAACTGAGGGCAGCCCCGCCGGGGTGTTGAGGCCGAGGTGGGGTGTATGTGGGTTATGTAATGGAGCTGGGGTCGCATTGGCAACCATGTGACGTTCTGAGCTCCTCAACAGCAGGGCAAAGCCCCAAGACCACCCCAAGGGGTCCTGTCTGGAGTGGGCTGCAAAGGGTCTGGGGAGGCAAGGCCTCATGCTTGGGAAAGTCCAAAGGGGTGTAGGGGGTGGGAAATGGGACACAATGAGGT
|
CTCTCCTGGTTGTCTGTTTCTCACTTGCTCTTTGTCCCCTGGCACTAAAGATACTGGCCTGGGCCAAGCCCCACCCAGATCTGGATGGACCTTGGGTGGAGGAGCTAGCTGTGACCTCTGCTCTTGGGCAGAACTGGGCTGTCTGGGTCCACACAGCGGGCTGGTCGCTGAGCCCTGGGCCTGCCCTGGGTGAGCAGGGCACTGAGGGCTGAGAAGGGGCAGGGGAAGGGGCACCAGGTCTTCAGCAAACACATGGCAAGAACAGGCCAGGGGGCGGGATGTGAATCTTTTGGTCTCTTGGAGATCCTCCTGCACCTTCTACCACTCTAAGCCTCTAGACCCAATCTCTACCCAACTGTGGCTGGCAAGGGGGAGGGCAGCGGAAGAGAGCCGGGCTCCTCTGACAAAGCCCTAATTTTCTGGAACCCAGATGCTCCTCACTCTTGTTCTCATCTTCTTGCTTCCCCCCAACCTCCTGACCACTCCTCAAAGTGTAGGTGATCCACCACTGTCACCAGGGTCAGGGGAAGTCCTCTGGACAGAGAGTATGGGAGTCCTGGGTTCTGGCCCTGGCTCTGCTACCAACTTCTATGTGACCTTTGTGATTCCTTTGCCTTTCTGGGCCTGTCTCTTGGTCAGTCTAGCGAGAATCAGGTGACTGCTACCGGCTCACATCTCCTGGAGTCCCTGGTCTCTTTCAGAGCTGCTCTGGCACTCCCGGGTGGGAGTGGGGGACTGTCTTGTTCCACACATCCCCAGGAGGCCTGGCTGAACCCCAGACCTGAGTCGAGGGTGGGATAATTGCTCCCTGCGGGGGATGTTTTTCCTAGAGGTGTGGGCTGGTCCCAGGGAACCTGGGACTCTGAGGGCCCCTGGGCAGGAAGGAGGCCAAGGTTTCCTTCTGGCCAGAGTGCTCAGCTCCAGCTCTGGGGCAGTGGGGAAGAGGTTGCTCAACGTTGGGGTGGGGCCCTGGCAGGGAAGATGGCGCCGAACTGGGAGAGGGAGGAAAGAGATCAGCTTGGTGACTCTGGGGCAGGGCAGGAGGGGGAGCCCCTTACTGTGTGTCCTCTCCCTAGGAGGATGAAGAAGCCCCCAACTCAAAGGAGGGTGGCGTCAGAAAGTCCCAGGGAAGAGCCCTAGGATAGGATGAGGTCCCGCAGCAGCAGATTTGTCCCGCAGTTCTTCATCCCTCACTCTTCCAAAGACTCTCATCTGAATTCCGTTTTCTTTAAACCTCCCCTGAGTTCTCCATCTGACTGCCTCAGTTTCCCTGAATCTCCAGCCAACCCTTTGGTTCTTTCCAAGCGTTTCCCTCGTATCCTCCTGACCACAGCAGCTGGTGGCATAGTGTGCGTATCTGTGGGCAGGAGTTAGTGAAGGCCTCCTTCCCTCCCTCCAAAGCCCCAGGCCCCACGGTCTGCCACCCGCAAAATTCCAACCACGAGGGGGCGCCTTCCTGCCCGCCGCCCCGTAGGGAGACCCGGCCTAGGCCGCTGGAGTTCCGAGTTCCAGGGTCCTTGTGATGGAAGGGCGGGCGCGGCCCCCACACCTGGTCTTCCAGCCCTATCCAAGGAGGACTGCCAGACAGTCCCGCTCTGAGGTGCAGGAGGCCGGGCCGCCTCGGCTACCCTGAATCCACCCGAAGCTAGAGGGCCCGAGCCCGGGGGGCGGTCGGGTGCTCACCTCCAGAGCTTGCCCAGCGTCTTGCTGAGCTCAGCGTTGTGCAGGTGCGGGTACTGGTCCGCGAGCTTCCTGCGCGCTGCCTGAGCCCACACCATGAAGGCGTTCATGGGCCGCTTGACGTGCGGCTTGCTTTTGCTGGCGCCGTTGACGCGCACGGGCATGGGCACCAGCGTCCAGTCGTAGCCGCTGAGCACCTGGCTGACGGCCTCGCGGATGCACACGGGGAACTTGTCATCGTCCGCCTCGCCGTCCTGCTGCTCCTTCTTGACCTTGCCCAGCTCGCCTGGCCCCGGGCTGGCTCGCAGGCCCGATCCGCCGCCGCCGCCGTCGGGCCCTAGCGAGGGCGCGCTCCCCGGGGACAGGCAGCGGGGCTCAGCTCCACCTCCGATAGGTCCTGCTCCTCCGCCATGTCGCCCCCGGCCGCCGCCGCCGCCGCCTCGGCCGCCTCCCCCGGGCCAGCCGCCGGGGTCCTCGCAAAGAGTCCAACGCCCACCTGGATGGAAGGAGGGCGCGATGGAGCGGCCGCGCGCGCAGCCCCGAGGGCGGCCCGAGACAGGACGTGGGCACAGCCCCGAGGTGGCGGCCCTTCCTGCTCCAGCTAAACCCATCTGGCCCCTGGGGCCCACGCACATGCCAGACTCTAGGTGGGTGCGTCCCGCCTCTGTGTCTTCCCACCACCTGGTCCCAACCGTCTCTTGGTGTGGGTGGCTTTTTTTTTAGCCTCCTTTTTTGGGTGGAGGTTTGTTGATGATAAGGAAGAAAAAAACGGAGCCTTTATTTTGCTCTAATCCCGGCCCCTGGAATTTCCCACCTTTTCTCTCACCTTTCCTTCTTCCCTCAGCCTGCCCCAACGGGGTTTAGAGGAGAGCCAGGTGGGGGGCAAGGGCGGGGTGTCGCCTCTCTCCACCTCACAGCAGGGTCCCAGGCCTGGGCGGGCCAGGGAGGAGCAGGCTGCGCACTCACCTCCTCGGACCTCTCCTCCAGTCTGGGGCTCGTCCTTAGGAAGTGGAAAACCGTGTCCCAAGGTGTGCGGTCCAGCTCGGGGCTGGGAGGTGACGCTGGTGGGCTGGGAGGGAGGGGCGGGGGGCCCTGAGCCTCAGGCCACGGCCTCGTTAGGACGGAGCCTGAATCCTTACCACCAACCACCCTGGCCGGACAGCCCGAGACTGACTGAGCGACTGAGCCTGAGCCGCTGCGGAGGGCTGGGGAAGGAAGGAGGGGGAGAGGGGGGAGGGGAGAGGAGGGAGGGAAGGGCAGAAGGTGGAGCCTCCAGGCTTTCCTTCATCCCCAACACTCAGGGCTCCTCCACCCGGAGCCCAGGCCCCCCCACCCAGCTCCCTGCCCTACTGCCCAGGCCCATCTTGCTGAGGCTTATCTTGGGCTTAGTCTGGGAGGTGGAGGGGAGGTTAGGCCGAGGAAGGAAGAGATGTAGGCTGGAGGGTCAGAACCTGTTGGATGGAAGAAAATTGGGCCCAACCAGGACTCCTAACGTCTGCCTCAGGTGGCAGGATGGGCACTTGGCAGGGGACTAGGGAGAGACGTGAAGGCGGTGAGGGTCCTGGGGGCCCGTGAGGGTGGCTGGCCCTAGCTGCTTCGTCTGCGAAATCCTGTTGAGTGCCTAGTGTGTGCCAGGCACTGATGCCCAGCTCCTCACCCTGCCTCCTACCTTTTCCCAGGCAGCCCTTTCTGCCCCATCCTGCACAGTAAGAGAGACTTCTCAGGGATCCCTCTGAGAAGTGCAGAGCCCCAGCTTGACCCCTGGTCCCTTCTCTGCAGACACCCAGCACACGCGCGTTCTGGTCTGGTTCAAGGTGGAAACACAAGACTAAAGCTGCCAGGAGGCCAAGGTGGGACAGGTTGGGGGCCCTCTCTCAGTAGGTCTTAGAGGCATTTTGGGTTGCTACCTACTGGGACCCAGCTCCTTCCACACTGGGCTCACCCTGTCTTGGGAGAGGGTAGGGGAGTCCTAGTCCTGATTGTCACGAAGTCCTCTACTCCCCCACCCCAACAAGGGGTGGGGACTTGCCCTGCCTCTTCCCTCCTCTGCCCACCTCTCCCTCCCTCCCCTTTTCTTTCCTGCCCATCCTCCGTTGACACCTTTTTCTCTCTCTTTCCTTGGCCTCTCCTCCAAAGGTCGCAGTGCTGTTCTCTTAACTGAGGGCAGCCCCGCCGGGGTGTTGAGGCCGAGGTGGGGTGTATGTGGGTTATGTAATGGAGCTGGGGTCGCATTGGCAACCATGTGACGTTCTGAGCTCCTCAACAGCAGGGCAAAGCCCCAAGACCACCCCAAGGGGTCCTGTCTGGAGTGGGCTGCAAAGGGTCTGGGGAGGCAAGGCCTCATGCTTGGGAAAGTCCAAAGGGGTGTAGGGGGTGGGAAATGGGACACAATGAGGTNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 326,985 |
A genetic variant on chromosome 22, position 38111973, affects the gene PLA2G6 (phospholipase A2 group VI). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
benign
|
AGGTGAAAGGGTCCTGCACACAGGAGGCGCTCAATAAATGTCTGTGGCGGCTGCAACAACCCCCCGGGGGTGAAGTAGGAAGTCTGAGGGGCTCAGAAATGAGAGAGACAGAGACAGGGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGGGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGACAGAGAGAGAGAGGGAGGGTCTTTCTTTATTCCCAGGCCGGGCAGCCAGGCCCTTCTCATCCAGACTCAACTCTCCCCACCCTGGGCCTTGGGCTCCCTCCTGCCTTGTCCAGCATCTGGGAGTTGGGGGTTCCCGCTGTATGGCTGAGTGCTCTCGGGGATCCTTACCCCCGTACCCACCCCTGGCCCAGCCTGGCTCCAGGCTTCCCTTTCCAGGACATCTGTAGCCCCGGCTGGCCCTCCGTCCTCCAGAGCGGGCCTGATTTCTGTGCCCTGGGAGGAGGGGCTCAGGCCTGGCTTGGCCACCCATGTGCTCACCTTGTAGATGGCCATGGTGGACCTGTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCTGATACAAGTGCCCATGTGGATGAGCCCCCTCCTGGGTCACCCCCTCCTCAAGGACCCCAACCCTGGGGGGCCCCGCCCTCCCACCTGCCTATACCAGGCATTGCCCACCTTACTGGGCGGGCGCTGCCCGATGCCCTCCCCCAGGACTCTCTCTGCCAGACCCAGCAGCAGCAGCCCCTGGAGGGGAACGCCGCTTTACTTCTCACTGTCCTCAGGCCTGCGGCTCACAGTGGGGCCACGCCCTCTGAGCTTGGCTCCCACAGCCGCTCTGGCCCGCCCAGCTCCTCCACTTGCCGGAGCAGGAGCAGCACAAACGCTGGAGTTGCCCAGCCCTGGGCAGACCTCGGCCCTGCACACGCGCTGCCTGTCCACGCGGAGTCCCCGGCCTCTCTGGGTGACAAATGGGGCTCTCCCTGGTCCTCCAAGATGAAGTTGAAGATTGTGGCCCTCCTTGGGCCTGCCGGGGGTATGTGGGCCTGGCAGCTGCCTCTGCATACCCTAAGGGCCGGTTTAGGGGAGGCCTAGAGGAAAGAGGAGGTGTCCCTGCCCAGGGATCCTGGAAAACAGAGTGTCCGGGTACAAAGGAAAAGTCCGGTCAAGGCCAAGGGTCAAGGCCGAGGGGAGCCGGGGGTCAGGGGAACAGGTGGATCTCACACCACTGCACACACAACACAGGTGAACTTGAATCCAAATGATTTATTTCAGTTTTGGCTCTTAAGCCACTTCCATTGGGAAGAAGAAACTCCCAGGAGTGACCTTTGAGAGCTGAGGGTTCTCGGGGTGGGGCAGTGTGAGGGGCTGGGCCAGTGTGAGGGGCAAAGTCCAACGGGCATCCCACTCCTGCGGCCTGGGCTTTCCCAGCTGATGGGGTGGGGGACACCCATTTCTTTAGTCCCAGCCCCCAGGGAACGGAGCAGAGGGCAGAGGGAGTGGGCTGCACCCACCAGGAAGCCTGGGAGTGCCCTTGCTGGGGGCTGGGGCAGAGGCAGCCCGGCAGGCCCTCAGGGAGGCTGGGGCTGGGGGCAGGGGTACGGTTGTGCCCGGGTACCCTTAATGTTTGAGCTGATGGGGGAGTCAGTTGTCCTTGACAGTCAGGGAAAGGGGCCAAAGGGGGCTCTAGACTTTCCCAGCCTGGAATGACAGAAAGTGCTGGAAGGCGGGGTTAGTGGGAGACAGGCCTTCAGGACCAGCCTCGGGCAGGCAGCTTGGCATTCTCCCAGGCCTGGTCTATGGACTCAGAGGTGCCTGGGCCCAGATCTGCCCGGGAGGGCAGTGGCTGGGCTTGGCCTGGCAGGGGCTGAATGGACGAGGTCAGCTGGGGCCGGTGAGAGGCTGGGGACCCTCAGGGTGAGAGCAGCAGCTGGATGAGCTTCTGGAACTCCTCGCGGTGCTCATAGATGTAGACCTCGGTCTCCCAGAGGGCGTTGACCAGCACTGTGTCACTGACCTCATCCAGCATGATGTCCGTCCCCAGCTGGGGGTTCAATCTGTTCGGGCCAGGGAGGAGGGGGTCACCCTAGGATGCTCAGGCTGGGCAGGGGACGCCAGCTAGGACCAGGGTGGGCTTGGGGAACAGAGCAGACCCTTGGGGAAGGGAAAGTCCACACTAGGGCTGGGAGGGGAAGGTCGGTGAGTCCGACCACGCCAGGGCACGGGGCCAAGGGCTGGGGCGGCTGAGCCCTCACCTGAAGTACTGGATGCCGACCATCTCGCACCAGGCCCGTGCCCGGTCCACAGCCCGCCCGTCTGGATCCGTGCACTGGTGAGAAGCAGCCTTGGTGAGTGCCGGGCCCACACCCCGCCCGGCCCGCACCCCGCCCGGCCCTGCCCTGCACTCTCGGAGCCCCAGCCTGGGGAGCCCCAGGCTCTTTCGAGTCAGGCTGAGCCACACAGCAGCAGAGCGGCTCGGGCAAAACCCCTTCCTGGGACTGCAGGGACTGTCCCAGCTGTGCAATCAGAGGGGCAGAGGTCTCAGCAGTGCCCTTTCAGGGATGATGAGTGGGGGAAAGGGTAGCGGCTGAGTCGACAGGCCTCCATGTCCCCTCTCCCTGAAGTTTCCCTCCCTCCCTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTTTGAGACAAGGTCTCCTTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCTGCCTCTTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGTCCAGCTAGTTTTTAATTTTTTGGTAGAGACAAAGTCTCATTATATTGCTCAGGCTGGTCTCAAACTGCTGTGCTCAAGTGGTCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCGCCCAGCCCGCTCTGGAGCCTTTGTCCATTCTGGGCTTCTACACTGCGCTATGTTTGCAGAAAGGGATCCGCAGCTAAAAAGCGTTTGAAAACCCCCCTGCTGGTGGTCACTGAGGGTCCCTGCCCCGCACTGAGACTCTGAACTGTGGACTCTCTCTCCCTCCAGCTGGCTAAAGGCGATGGACAGAGCCCTGCTGTCTCCTCCAACACCAAAGGCCCCACAGGATGAGGGGAAGCCATCGACCTGGGCTACAGACCCTGAGGGAAGTGGCCTGGGGGAGGGGCCCACACTCACACAGTCCACCACCATCTTGCCCAGTTCCTTGGCCCCAAAAACAGTCTTGGCCAGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGC
|
AGGTGAAAGGGTCCTGCACACAGGAGGCGCTCAATAAATGTCTGTGGCGGCTGCAACAACCCCCCGGGGGTGAAGTAGGAAGTCTGAGGGGCTCAGAAATGAGAGAGACAGAGACAGGGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGGGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGACAGAGAGAGAGAGGGAGGGTCTTTCTTTATTCCCAGGCCGGGCAGCCAGGCCCTTCTCATCCAGACTCAACTCTCCCCACCCTGGGCCTTGGGCTCCCTCCTGCCTTGTCCAGCATCTGGGAGTTGGGGGTTCCCGCTGTATGGCTGAGTGCTCTCGGGGATCCTTACCCCCGTACCCACCCCTGGCCCAGCCTGGCTCCAGGCTTCCCTTTCCAGGACATCTGTAGCCCCGGCTGGCCCTCCGTCCTCCAGAGCGGGCCTGATTTCTGTGCCCTGGGAGGAGGGGCTCAGGCCTGGCTTGGCCACCCATGTGCTCACCTTGTAGATGGCCATGGTGGACCTGTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCTGATACAAGTGCCCATGTGGATGAGCCCCCTCCTGGGTCACCCCCTCCTCAAGGACCCCAACCCTGGGGGGCCCCGCCCTCCCACCTGCCTATACCAGGCATTGCCCACCTTACTGGGCGGGCGCTGCCCGATGCCCTCCCCCAGGACTCTCTCTGCCAGACCCAGCAGCAGCAGCCCCTGGAGGGGAACGCCGCTTTACTTCTCACTGTCCTCAGGCCTGCGGCTCACAGTGGGGCCACGCCCTCTGAGCTTGGCTCCCACAGCCGCTCTGGCCCGCCCAGCTCCTCCACTTGCCGGAGCAGGAGCAGCACAAACGCTGGAGTTGCCCAGCCCTGGGCAGACCTCGGCCCTGCACACGCGCTGCCTGTCCACGCGGAGTCCCCGGCCTCTCTGGGTGACAAATGGGGCTCTCCCTGGTCCTCCAAGATGAAGTTGAAGATTGTGGCCCTCCTTGGGCCTGCCGGGGGTATGTGGGCCTGGCAGCTGCCTCTGCATACCCTAAGGGCCGGTTTAGGGGAGGCCTAGAGGAAAGAGGAGGTGTCCCTGCCCAGGGATCCTGGAAAACAGAGTGTCCGGGTACAAAGGAAAAGTCCGGTCAAGGCCAAGGGTCAAGGCCGAGGGGAGCCGGGGGTCAGGGGAACAGGTGGATCTCACACCACTGCACACACAACACAGGTGAACTTGAATCCAAATGATTTATTTCAGTTTTGGCTCTTAAGCCACTTCCATTGGGAAGAAGAAACTCCCAGGAGTGACCTTTGAGAGCTGAGGGTTCTCGGGGTGGGGCAGTGTGAGGGGCTGGGCCAGTGTGAGGGGCAAAGTCCAACGGGCATCCCACTCCTGCGGCCTGGGCTTTCCCAGCTGATGGGGTGGGGGACACCCATTTCTTTAGTCCCAGCCCCCAGGGAACGGAGCAGAGGGCAGAGGGAGTGGGCTGCACCCACCAGGAAGCCTGGGAGTGCCCTTGCTGGGGGCTGGGGCAGAGGCAGCCCGGCAGGCCCTCAGGGAGGCTGGGGCTGGGGGCAGGGGTACGGTTGTGCCCGGGTACCCTTAATGTTTGAGCTGATGGGGGAGTCAGTTGTCCTTGACAGTCAGGGAAAGGGGCCAAAGGGGGCTCTAGACTTTCCCAGCCTGGAATGACAGAAAGTGCTGGAAGGTTAGTGGGAGACAGGCCTTCAGGACCAGCCTCGGGCAGGCAGCTTGGCATTCTCCCAGGCCTGGTCTATGGACTCAGAGGTGCCTGGGCCCAGATCTGCCCGGGAGGGCAGTGGCTGGGCTTGGCCTGGCAGGGGCTGAATGGACGAGGTCAGCTGGGGCCGGTGAGAGGCTGGGGACCCTCAGGGTGAGAGCAGCAGCTGGATGAGCTTCTGGAACTCCTCGCGGTGCTCATAGATGTAGACCTCGGTCTCCCAGAGGGCGTTGACCAGCACTGTGTCACTGACCTCATCCAGCATGATGTCCGTCCCCAGCTGGGGGTTCAATCTGTTCGGGCCAGGGAGGAGGGGGTCACCCTAGGATGCTCAGGCTGGGCAGGGGACGCCAGCTAGGACCAGGGTGGGCTTGGGGAACAGAGCAGACCCTTGGGGAAGGGAAAGTCCACACTAGGGCTGGGAGGGGAAGGTCGGTGAGTCCGACCACGCCAGGGCACGGGGCCAAGGGCTGGGGCGGCTGAGCCCTCACCTGAAGTACTGGATGCCGACCATCTCGCACCAGGCCCGTGCCCGGTCCACAGCCCGCCCGTCTGGATCCGTGCACTGGTGAGAAGCAGCCTTGGTGAGTGCCGGGCCCACACCCCGCCCGGCCCGCACCCCGCCCGGCCCTGCCCTGCACTCTCGGAGCCCCAGCCTGGGGAGCCCCAGGCTCTTTCGAGTCAGGCTGAGCCACACAGCAGCAGAGCGGCTCGGGCAAAACCCCTTCCTGGGACTGCAGGGACTGTCCCAGCTGTGCAATCAGAGGGGCAGAGGTCTCAGCAGTGCCCTTTCAGGGATGATGAGTGGGGGAAAGGGTAGCGGCTGAGTCGACAGGCCTCCATGTCCCCTCTCCCTGAAGTTTCCCTCCCTCCCTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTTTGAGACAAGGTCTCCTTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCTGCCTCTTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGTCCAGCTAGTTTTTAATTTTTTGGTAGAGACAAAGTCTCATTATATTGCTCAGGCTGGTCTCAAACTGCTGTGCTCAAGTGGTCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCGCCCAGCCCGCTCTGGAGCCTTTGTCCATTCTGGGCTTCTACACTGCGCTATGTTTGCAGAAAGGGATCCGCAGCTAAAAAGCGTTTGAAAACCCCCCTGCTGGTGGTCACTGAGGGTCCCTGCCCCGCACTGAGACTCTGAACTGTGGACTCTCTCTCCCTCCAGCTGGCTAAAGGCGATGGACAGAGCCCTGCTGTCTCCTCCAACACCAAAGGCCCCACAGGATGAGGGGAAGCCATCGACCTGGGCTACAGACCCTGAGGGAAGTGGCCTGGGGGAGGGGCCCACACTCACACAGTCCACCACCATCTTGCCCAGTTCCTTGGCCCCAAAAACAGTCTTGGCCAGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCNNNNN
|
benign
| 326,990 |
Mutation found at chromosome 22 position 38112210, gene PLA2G6 (phospholipase A2 group VI): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Autosomal_recessive_Parkinson_disease_14', 'Inborn_genetic_diseases', 'Infantile_neuroaxonal_dystrophy', 'Iron_accumulation_in_brain', 'Neurodegeneration_with_brain_iron_accumulation_2B', 'PLA2G6-associated_neurodegeneration']
|
AGAGAGAGGGAGGGTCTTTCTTTATTCCCAGGCCGGGCAGCCAGGCCCTTCTCATCCAGACTCAACTCTCCCCACCCTGGGCCTTGGGCTCCCTCCTGCCTTGTCCAGCATCTGGGAGTTGGGGGTTCCCGCTGTATGGCTGAGTGCTCTCGGGGATCCTTACCCCCGTACCCACCCCTGGCCCAGCCTGGCTCCAGGCTTCCCTTTCCAGGACATCTGTAGCCCCGGCTGGCCCTCCGTCCTCCAGAGCGGGCCTGATTTCTGTGCCCTGGGAGGAGGGGCTCAGGCCTGGCTTGGCCACCCATGTGCTCACCTTGTAGATGGCCATGGTGGACCTGTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCTGATACAAGTGCCCATGTGGATGAGCCCCCTCCTGGGTCACCCCCTCCTCAAGGACCCCAACCCTGGGGGGCCCCGCCCTCCCACCTGCCTATACCAGGCATTGCCCACCTTACTGGGCGGGCGCTGCCCGATGCCCTCCCCCAGGACTCTCTCTGCCAGACCCAGCAGCAGCAGCCCCTGGAGGGGAACGCCGCTTTACTTCTCACTGTCCTCAGGCCTGCGGCTCACAGTGGGGCCACGCCCTCTGAGCTTGGCTCCCACAGCCGCTCTGGCCCGCCCAGCTCCTCCACTTGCCGGAGCAGGAGCAGCACAAACGCTGGAGTTGCCCAGCCCTGGGCAGACCTCGGCCCTGCACACGCGCTGCCTGTCCACGCGGAGTCCCCGGCCTCTCTGGGTGACAAATGGGGCTCTCCCTGGTCCTCCAAGATGAAGTTGAAGATTGTGGCCCTCCTTGGGCCTGCCGGGGGTATGTGGGCCTGGCAGCTGCCTCTGCATACCCTAAGGGCCGGTTTAGGGGAGGCCTAGAGGAAAGAGGAGGTGTCCCTGCCCAGGGATCCTGGAAAACAGAGTGTCCGGGTACAAAGGAAAAGTCCGGTCAAGGCCAAGGGTCAAGGCCGAGGGGAGCCGGGGGTCAGGGGAACAGGTGGATCTCACACCACTGCACACACAACACAGGTGAACTTGAATCCAAATGATTTATTTCAGTTTTGGCTCTTAAGCCACTTCCATTGGGAAGAAGAAACTCCCAGGAGTGACCTTTGAGAGCTGAGGGTTCTCGGGGTGGGGCAGTGTGAGGGGCTGGGCCAGTGTGAGGGGCAAAGTCCAACGGGCATCCCACTCCTGCGGCCTGGGCTTTCCCAGCTGATGGGGTGGGGGACACCCATTTCTTTAGTCCCAGCCCCCAGGGAACGGAGCAGAGGGCAGAGGGAGTGGGCTGCACCCACCAGGAAGCCTGGGAGTGCCCTTGCTGGGGGCTGGGGCAGAGGCAGCCCGGCAGGCCCTCAGGGAGGCTGGGGCTGGGGGCAGGGGTACGGTTGTGCCCGGGTACCCTTAATGTTTGAGCTGATGGGGGAGTCAGTTGTCCTTGACAGTCAGGGAAAGGGGCCAAAGGGGGCTCTAGACTTTCCCAGCCTGGAATGACAGAAAGTGCTGGAAGGCGGGGTTAGTGGGAGACAGGCCTTCAGGACCAGCCTCGGGCAGGCAGCTTGGCATTCTCCCAGGCCTGGTCTATGGACTCAGAGGTGCCTGGGCCCAGATCTGCCCGGGAGGGCAGTGGCTGGGCTTGGCCTGGCAGGGGCTGAATGGACGAGGTCAGCTGGGGCCGGTGAGAGGCTGGGGACCCTCAGGGTGAGAGCAGCAGCTGGATGAGCTTCTGGAACTCCTCGCGGTGCTCATAGATGTAGACCTCGGTCTCCCAGAGGGCGTTGACCAGCACTGTGTCACTGACCTCATCCAGCATGATGTCCGTCCCCAGCTGGGGGTTCAATCTGTTCGGGCCAGGGAGGAGGGGGTCACCCTAGGATGCTCAGGCTGGGCAGGGGACGCCAGCTAGGACCAGGGTGGGCTTGGGGAACAGAGCAGACCCTTGGGGAAGGGAAAGTCCACACTAGGGCTGGGAGGGGAAGGTCGGTGAGTCCGACCACGCCAGGGCACGGGGCCAAGGGCTGGGGCGGCTGAGCCCTCACCTGAAGTACTGGATGCCGACCATCTCGCACCAGGCCCGTGCCCGGTCCACAGCCCGCCCGTCTGGATCCGTGCACTGGTGAGAAGCAGCCTTGGTGAGTGCCGGGCCCACACCCCGCCCGGCCCGCACCCCGCCCGGCCCTGCCCTGCACTCTCGGAGCCCCAGCCTGGGGAGCCCCAGGCTCTTTCGAGTCAGGCTGAGCCACACAGCAGCAGAGCGGCTCGGGCAAAACCCCTTCCTGGGACTGCAGGGACTGTCCCAGCTGTGCAATCAGAGGGGCAGAGGTCTCAGCAGTGCCCTTTCAGGGATGATGAGTGGGGGAAAGGGTAGCGGCTGAGTCGACAGGCCTCCATGTCCCCTCTCCCTGAAGTTTCCCTCCCTCCCTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTTTGAGACAAGGTCTCCTTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCTGCCTCTTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGTCCAGCTAGTTTTTAATTTTTTGGTAGAGACAAAGTCTCATTATATTGCTCAGGCTGGTCTCAAACTGCTGTGCTCAAGTGGTCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCGCCCAGCCCGCTCTGGAGCCTTTGTCCATTCTGGGCTTCTACACTGCGCTATGTTTGCAGAAAGGGATCCGCAGCTAAAAAGCGTTTGAAAACCCCCCTGCTGGTGGTCACTGAGGGTCCCTGCCCCGCACTGAGACTCTGAACTGTGGACTCTCTCTCCCTCCAGCTGGCTAAAGGCGATGGACAGAGCCCTGCTGTCTCCTCCAACACCAAAGGCCCCACAGGATGAGGGGAAGCCATCGACCTGGGCTACAGACCCTGAGGGAAGTGGCCTGGGGGAGGGGCCCACACTCACACAGTCCACCACCATCTTGCCCAGTTCCTTGGCCCCAAAAACAGTCTTGGCCAGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCATCATTACTTCATTTAATCTCCAGCCAGTCTGTGGAGAGGGCACTGATCACCCAGTTTGCAAATGAGGGCTCTCAGCGAAGCTCAGGCCGGGAAGCAGCTGCAGGGGCCACGTGGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACT
|
AGAGAGAGGGAGGGTCTTTCTTTATTCCCAGGCCGGGCAGCCAGGCCCTTCTCATCCAGACTCAACTCTCCCCACCCTGGGCCTTGGGCTCCCTCCTGCCTTGTCCAGCATCTGGGAGTTGGGGGTTCCCGCTGTATGGCTGAGTGCTCTCGGGGATCCTTACCCCCGTACCCACCCCTGGCCCAGCCTGGCTCCAGGCTTCCCTTTCCAGGACATCTGTAGCCCCGGCTGGCCCTCCGTCCTCCAGAGCGGGCCTGATTTCTGTGCCCTGGGAGGAGGGGCTCAGGCCTGGCTTGGCCACCCATGTGCTCACCTTGTAGATGGCCATGGTGGACCTGTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCTGATACAAGTGCCCATGTGGATGAGCCCCCTCCTGGGTCACCCCCTCCTCAAGGACCCCAACCCTGGGGGGCCCCGCCCTCCCACCTGCCTATACCAGGCATTGCCCACCTTACTGGGCGGGCGCTGCCCGATGCCCTCCCCCAGGACTCTCTCTGCCAGACCCAGCAGCAGCAGCCCCTGGAGGGGAACGCCGCTTTACTTCTCACTGTCCTCAGGCCTGCGGCTCACAGTGGGGCCACGCCCTCTGAGCTTGGCTCCCACAGCCGCTCTGGCCCGCCCAGCTCCTCCACTTGCCGGAGCAGGAGCAGCACAAACGCTGGAGTTGCCCAGCCCTGGGCAGACCTCGGCCCTGCACACGCGCTGCCTGTCCACGCGGAGTCCCCGGCCTCTCTGGGTGACAAATGGGGCTCTCCCTGGTCCTCCAAGATGAAGTTGAAGATTGTGGCCCTCCTTGGGCCTGCCGGGGGTATGTGGGCCTGGCAGCTGCCTCTGCATACCCTAAGGGCCGGTTTAGGGGAGGCCTAGAGGAAAGAGGAGGTGTCCCTGCCCAGGGATCCTGGAAAACAGAGTGTCCGGGTACAAAGGAAAAGTCCGGTCAAGGCCAAGGGTCAAGGCCGAGGGGAGCCGGGGGTCAGGGGAACAGGTGGATCTCACACCACTGCACACACAACACAGGTGAACTTGAATCCAAATGATTTATTTCAGTTTTGGCTCTTAAGCCACTTCCATTGGGAAGAAGAAACTCCCAGGAGTGACCTTTGAGAGCTGAGGGTTCTCGGGGTGGGGCAGTGTGAGGGGCTGGGCCAGTGTGAGGGGCAAAGTCCAACGGGCATCCCACTCCTGCGGCCTGGGCTTTCCCAGCTGATGGGGTGGGGGACACCCATTTCTTTAGTCCCAGCCCCCAGGGAACGGAGCAGAGGGCAGAGGGAGTGGGCTGCACCCACCAGGAAGCCTGGGAGTGCCCTTGCTGGGGGCTGGGGCAGAGGCAGCCCGGCAGGCCCTCAGGGAGGCTGGGGCTGGGGGCAGGGGTACGGTTGTGCCCGGGTACCCTTAATGTTTGAGCTGATGGGGGAGTCAGTTGTCCTTGACAGTCAGGGAAAGGGGCCAAAGGGGGCTCTAGACTTTCCCAGCCTGGAATGACAGAAAGTGCTGGAAGGCGGGGTTAGTGGGAGACAGGCCTTCAGGACCAGCCTCGGGCAGGCAGCTTGGCATTCTCCCAGGCCTGGTCTATGGACTCAGAGGTGCCTGGGCCCAGATCTGCCCGGGAGGGCAGTGGCTGGGCTTGGCCTGGCAGGGGCTGAATGGACGAGGTCAGCTGGGGCCGGTGAGAGGCTGGGGACCCTCAGGGTGAGAGCAGCAGCTGGATGAGCTTCTGGAACTCCTCGCGGTGCTTAGATGTAGACCTCGGTCTCCCAGAGGGCGTTGACCAGCACTGTGTCACTGACCTCATCCAGCATGATGTCCGTCCCCAGCTGGGGGTTCAATCTGTTCGGGCCAGGGAGGAGGGGGTCACCCTAGGATGCTCAGGCTGGGCAGGGGACGCCAGCTAGGACCAGGGTGGGCTTGGGGAACAGAGCAGACCCTTGGGGAAGGGAAAGTCCACACTAGGGCTGGGAGGGGAAGGTCGGTGAGTCCGACCACGCCAGGGCACGGGGCCAAGGGCTGGGGCGGCTGAGCCCTCACCTGAAGTACTGGATGCCGACCATCTCGCACCAGGCCCGTGCCCGGTCCACAGCCCGCCCGTCTGGATCCGTGCACTGGTGAGAAGCAGCCTTGGTGAGTGCCGGGCCCACACCCCGCCCGGCCCGCACCCCGCCCGGCCCTGCCCTGCACTCTCGGAGCCCCAGCCTGGGGAGCCCCAGGCTCTTTCGAGTCAGGCTGAGCCACACAGCAGCAGAGCGGCTCGGGCAAAACCCCTTCCTGGGACTGCAGGGACTGTCCCAGCTGTGCAATCAGAGGGGCAGAGGTCTCAGCAGTGCCCTTTCAGGGATGATGAGTGGGGGAAAGGGTAGCGGCTGAGTCGACAGGCCTCCATGTCCCCTCTCCCTGAAGTTTCCCTCCCTCCCTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTTTGAGACAAGGTCTCCTTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCTGCCTCTTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGTCCAGCTAGTTTTTAATTTTTTGGTAGAGACAAAGTCTCATTATATTGCTCAGGCTGGTCTCAAACTGCTGTGCTCAAGTGGTCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCGCCCAGCCCGCTCTGGAGCCTTTGTCCATTCTGGGCTTCTACACTGCGCTATGTTTGCAGAAAGGGATCCGCAGCTAAAAAGCGTTTGAAAACCCCCCTGCTGGTGGTCACTGAGGGTCCCTGCCCCGCACTGAGACTCTGAACTGTGGACTCTCTCTCCCTCCAGCTGGCTAAAGGCGATGGACAGAGCCCTGCTGTCTCCTCCAACACCAAAGGCCCCACAGGATGAGGGGAAGCCATCGACCTGGGCTACAGACCCTGAGGGAAGTGGCCTGGGGGAGGGGCCCACACTCACACAGTCCACCACCATCTTGCCCAGTTCCTTGGCCCCAAAAACAGTCTTGGCCAGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCATCATTACTTCATTTAATCTCCAGCCAGTCTGTGGAGAGGGCACTGATCACCCAGTTTGCAAATGAGGGCTCTCAGCGAAGCTCAGGCCGGGAAGCAGCTGCAGGGGCCACGTGGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTNN
|
pathogenic
| 326,991 |
Variant at chromosome position 38112253, chromosome 22, gene PLA2G6 (phospholipase A2 group VI): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Infantile_neuroaxonal_dystrophy', 'Iron_accumulation_in_brain']
|
GGCCCTTCTCATCCAGACTCAACTCTCCCCACCCTGGGCCTTGGGCTCCCTCCTGCCTTGTCCAGCATCTGGGAGTTGGGGGTTCCCGCTGTATGGCTGAGTGCTCTCGGGGATCCTTACCCCCGTACCCACCCCTGGCCCAGCCTGGCTCCAGGCTTCCCTTTCCAGGACATCTGTAGCCCCGGCTGGCCCTCCGTCCTCCAGAGCGGGCCTGATTTCTGTGCCCTGGGAGGAGGGGCTCAGGCCTGGCTTGGCCACCCATGTGCTCACCTTGTAGATGGCCATGGTGGACCTGTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCTGATACAAGTGCCCATGTGGATGAGCCCCCTCCTGGGTCACCCCCTCCTCAAGGACCCCAACCCTGGGGGGCCCCGCCCTCCCACCTGCCTATACCAGGCATTGCCCACCTTACTGGGCGGGCGCTGCCCGATGCCCTCCCCCAGGACTCTCTCTGCCAGACCCAGCAGCAGCAGCCCCTGGAGGGGAACGCCGCTTTACTTCTCACTGTCCTCAGGCCTGCGGCTCACAGTGGGGCCACGCCCTCTGAGCTTGGCTCCCACAGCCGCTCTGGCCCGCCCAGCTCCTCCACTTGCCGGAGCAGGAGCAGCACAAACGCTGGAGTTGCCCAGCCCTGGGCAGACCTCGGCCCTGCACACGCGCTGCCTGTCCACGCGGAGTCCCCGGCCTCTCTGGGTGACAAATGGGGCTCTCCCTGGTCCTCCAAGATGAAGTTGAAGATTGTGGCCCTCCTTGGGCCTGCCGGGGGTATGTGGGCCTGGCAGCTGCCTCTGCATACCCTAAGGGCCGGTTTAGGGGAGGCCTAGAGGAAAGAGGAGGTGTCCCTGCCCAGGGATCCTGGAAAACAGAGTGTCCGGGTACAAAGGAAAAGTCCGGTCAAGGCCAAGGGTCAAGGCCGAGGGGAGCCGGGGGTCAGGGGAACAGGTGGATCTCACACCACTGCACACACAACACAGGTGAACTTGAATCCAAATGATTTATTTCAGTTTTGGCTCTTAAGCCACTTCCATTGGGAAGAAGAAACTCCCAGGAGTGACCTTTGAGAGCTGAGGGTTCTCGGGGTGGGGCAGTGTGAGGGGCTGGGCCAGTGTGAGGGGCAAAGTCCAACGGGCATCCCACTCCTGCGGCCTGGGCTTTCCCAGCTGATGGGGTGGGGGACACCCATTTCTTTAGTCCCAGCCCCCAGGGAACGGAGCAGAGGGCAGAGGGAGTGGGCTGCACCCACCAGGAAGCCTGGGAGTGCCCTTGCTGGGGGCTGGGGCAGAGGCAGCCCGGCAGGCCCTCAGGGAGGCTGGGGCTGGGGGCAGGGGTACGGTTGTGCCCGGGTACCCTTAATGTTTGAGCTGATGGGGGAGTCAGTTGTCCTTGACAGTCAGGGAAAGGGGCCAAAGGGGGCTCTAGACTTTCCCAGCCTGGAATGACAGAAAGTGCTGGAAGGCGGGGTTAGTGGGAGACAGGCCTTCAGGACCAGCCTCGGGCAGGCAGCTTGGCATTCTCCCAGGCCTGGTCTATGGACTCAGAGGTGCCTGGGCCCAGATCTGCCCGGGAGGGCAGTGGCTGGGCTTGGCCTGGCAGGGGCTGAATGGACGAGGTCAGCTGGGGCCGGTGAGAGGCTGGGGACCCTCAGGGTGAGAGCAGCAGCTGGATGAGCTTCTGGAACTCCTCGCGGTGCTCATAGATGTAGACCTCGGTCTCCCAGAGGGCGTTGACCAGCACTGTGTCACTGACCTCATCCAGCATGATGTCCGTCCCCAGCTGGGGGTTCAATCTGTTCGGGCCAGGGAGGAGGGGGTCACCCTAGGATGCTCAGGCTGGGCAGGGGACGCCAGCTAGGACCAGGGTGGGCTTGGGGAACAGAGCAGACCCTTGGGGAAGGGAAAGTCCACACTAGGGCTGGGAGGGGAAGGTCGGTGAGTCCGACCACGCCAGGGCACGGGGCCAAGGGCTGGGGCGGCTGAGCCCTCACCTGAAGTACTGGATGCCGACCATCTCGCACCAGGCCCGTGCCCGGTCCACAGCCCGCCCGTCTGGATCCGTGCACTGGTGAGAAGCAGCCTTGGTGAGTGCCGGGCCCACACCCCGCCCGGCCCGCACCCCGCCCGGCCCTGCCCTGCACTCTCGGAGCCCCAGCCTGGGGAGCCCCAGGCTCTTTCGAGTCAGGCTGAGCCACACAGCAGCAGAGCGGCTCGGGCAAAACCCCTTCCTGGGACTGCAGGGACTGTCCCAGCTGTGCAATCAGAGGGGCAGAGGTCTCAGCAGTGCCCTTTCAGGGATGATGAGTGGGGGAAAGGGTAGCGGCTGAGTCGACAGGCCTCCATGTCCCCTCTCCCTGAAGTTTCCCTCCCTCCCTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTTTGAGACAAGGTCTCCTTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCTGCCTCTTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGTCCAGCTAGTTTTTAATTTTTTGGTAGAGACAAAGTCTCATTATATTGCTCAGGCTGGTCTCAAACTGCTGTGCTCAAGTGGTCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCGCCCAGCCCGCTCTGGAGCCTTTGTCCATTCTGGGCTTCTACACTGCGCTATGTTTGCAGAAAGGGATCCGCAGCTAAAAAGCGTTTGAAAACCCCCCTGCTGGTGGTCACTGAGGGTCCCTGCCCCGCACTGAGACTCTGAACTGTGGACTCTCTCTCCCTCCAGCTGGCTAAAGGCGATGGACAGAGCCCTGCTGTCTCCTCCAACACCAAAGGCCCCACAGGATGAGGGGAAGCCATCGACCTGGGCTACAGACCCTGAGGGAAGTGGCCTGGGGGAGGGGCCCACACTCACACAGTCCACCACCATCTTGCCCAGTTCCTTGGCCCCAAAAACAGTCTTGGCCAGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCATCATTACTTCATTTAATCTCCAGCCAGTCTGTGGAGAGGGCACTGATCACCCAGTTTGCAAATGAGGGCTCTCAGCGAAGCTCAGGCCGGGAAGCAGCTGCAGGGGCCACGTGGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGC
|
GGCCCTTCTCATCCAGACTCAACTCTCCCCACCCTGGGCCTTGGGCTCCCTCCTGCCTTGTCCAGCATCTGGGAGTTGGGGGTTCCCGCTGTATGGCTGAGTGCTCTCGGGGATCCTTACCCCCGTACCCACCCCTGGCCCAGCCTGGCTCCAGGCTTCCCTTTCCAGGACATCTGTAGCCCCGGCTGGCCCTCCGTCCTCCAGAGCGGGCCTGATTTCTGTGCCCTGGGAGGAGGGGCTCAGGCCTGGCTTGGCCACCCATGTGCTCACCTTGTAGATGGCCATGGTGGACCTGTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCTGATACAAGTGCCCATGTGGATGAGCCCCCTCCTGGGTCACCCCCTCCTCAAGGACCCCAACCCTGGGGGGCCCCGCCCTCCCACCTGCCTATACCAGGCATTGCCCACCTTACTGGGCGGGCGCTGCCCGATGCCCTCCCCCAGGACTCTCTCTGCCAGACCCAGCAGCAGCAGCCCCTGGAGGGGAACGCCGCTTTACTTCTCACTGTCCTCAGGCCTGCGGCTCACAGTGGGGCCACGCCCTCTGAGCTTGGCTCCCACAGCCGCTCTGGCCCGCCCAGCTCCTCCACTTGCCGGAGCAGGAGCAGCACAAACGCTGGAGTTGCCCAGCCCTGGGCAGACCTCGGCCCTGCACACGCGCTGCCTGTCCACGCGGAGTCCCCGGCCTCTCTGGGTGACAAATGGGGCTCTCCCTGGTCCTCCAAGATGAAGTTGAAGATTGTGGCCCTCCTTGGGCCTGCCGGGGGTATGTGGGCCTGGCAGCTGCCTCTGCATACCCTAAGGGCCGGTTTAGGGGAGGCCTAGAGGAAAGAGGAGGTGTCCCTGCCCAGGGATCCTGGAAAACAGAGTGTCCGGGTACAAAGGAAAAGTCCGGTCAAGGCCAAGGGTCAAGGCCGAGGGGAGCCGGGGGTCAGGGGAACAGGTGGATCTCACACCACTGCACACACAACACAGGTGAACTTGAATCCAAATGATTTATTTCAGTTTTGGCTCTTAAGCCACTTCCATTGGGAAGAAGAAACTCCCAGGAGTGACCTTTGAGAGCTGAGGGTTCTCGGGGTGGGGCAGTGTGAGGGGCTGGGCCAGTGTGAGGGGCAAAGTCCAACGGGCATCCCACTCCTGCGGCCTGGGCTTTCCCAGCTGATGGGGTGGGGGACACCCATTTCTTTAGTCCCAGCCCCCAGGGAACGGAGCAGAGGGCAGAGGGAGTGGGCTGCACCCACCAGGAAGCCTGGGAGTGCCCTTGCTGGGGGCTGGGGCAGAGGCAGCCCGGCAGGCCCTCAGGGAGGCTGGGGCTGGGGGCAGGGGTACGGTTGTGCCCGGGTACCCTTAATGTTTGAGCTGATGGGGGAGTCAGTTGTCCTTGACAGTCAGGGAAAGGGGCCAAAGGGGGCTCTAGACTTTCCCAGCCTGGAATGACAGAAAGTGCTGGAAGGCGGGGTTAGTGGGAGACAGGCCTTCAGGACCAGCCTCGGGCAGGCAGCTTGGCATTCTCCCAGGCCTGGTCTATGGACTCAGAGGTGCCTGGGCCCAGATCTGCCCGGGAGGGCAGTGGCTGGGCTTGGCCTGGCAGGGGCTGAATGGACGAGGTCAGCTGGGGCCGGTGAGAGGCTGGGGACCCTCAGGGTGAGAGCAGCAGCTGGATGAGCTTCTGGAACTCCTCGCGGTGCTCATAGATGTAGACCTCGGTCTCCCAGAGGGCGTTGACCAGCACTGTCACTGACCTCATCCAGCATGATGTCCGTCCCCAGCTGGGGGTTCAATCTGTTCGGGCCAGGGAGGAGGGGGTCACCCTAGGATGCTCAGGCTGGGCAGGGGACGCCAGCTAGGACCAGGGTGGGCTTGGGGAACAGAGCAGACCCTTGGGGAAGGGAAAGTCCACACTAGGGCTGGGAGGGGAAGGTCGGTGAGTCCGACCACGCCAGGGCACGGGGCCAAGGGCTGGGGCGGCTGAGCCCTCACCTGAAGTACTGGATGCCGACCATCTCGCACCAGGCCCGTGCCCGGTCCACAGCCCGCCCGTCTGGATCCGTGCACTGGTGAGAAGCAGCCTTGGTGAGTGCCGGGCCCACACCCCGCCCGGCCCGCACCCCGCCCGGCCCTGCCCTGCACTCTCGGAGCCCCAGCCTGGGGAGCCCCAGGCTCTTTCGAGTCAGGCTGAGCCACACAGCAGCAGAGCGGCTCGGGCAAAACCCCTTCCTGGGACTGCAGGGACTGTCCCAGCTGTGCAATCAGAGGGGCAGAGGTCTCAGCAGTGCCCTTTCAGGGATGATGAGTGGGGGAAAGGGTAGCGGCTGAGTCGACAGGCCTCCATGTCCCCTCTCCCTGAAGTTTCCCTCCCTCCCTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTTTGAGACAAGGTCTCCTTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCTGCCTCTTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGTCCAGCTAGTTTTTAATTTTTTGGTAGAGACAAAGTCTCATTATATTGCTCAGGCTGGTCTCAAACTGCTGTGCTCAAGTGGTCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCGCCCAGCCCGCTCTGGAGCCTTTGTCCATTCTGGGCTTCTACACTGCGCTATGTTTGCAGAAAGGGATCCGCAGCTAAAAAGCGTTTGAAAACCCCCCTGCTGGTGGTCACTGAGGGTCCCTGCCCCGCACTGAGACTCTGAACTGTGGACTCTCTCTCCCTCCAGCTGGCTAAAGGCGATGGACAGAGCCCTGCTGTCTCCTCCAACACCAAAGGCCCCACAGGATGAGGGGAAGCCATCGACCTGGGCTACAGACCCTGAGGGAAGTGGCCTGGGGGAGGGGCCCACACTCACACAGTCCACCACCATCTTGCCCAGTTCCTTGGCCCCAAAAACAGTCTTGGCCAGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCATCATTACTTCATTTAATCTCCAGCCAGTCTGTGGAGAGGGCACTGATCACCCAGTTTGCAAATGAGGGCTCTCAGCGAAGCTCAGGCCGGGAAGCAGCTGCAGGGGCCACGTGGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCNN
|
pathogenic
| 326,996 |
Clinical classification of chromosome 22, position 38112294, gene PLA2G6 (phospholipase A2 group VI): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Autosomal_recessive_Parkinson_disease_14', 'Infantile_neuroaxonal_dystrophy', 'Neurodegeneration_with_brain_iron_accumulation_2B']
|
TGGGCTCCCTCCTGCCTTGTCCAGCATCTGGGAGTTGGGGGTTCCCGCTGTATGGCTGAGTGCTCTCGGGGATCCTTACCCCCGTACCCACCCCTGGCCCAGCCTGGCTCCAGGCTTCCCTTTCCAGGACATCTGTAGCCCCGGCTGGCCCTCCGTCCTCCAGAGCGGGCCTGATTTCTGTGCCCTGGGAGGAGGGGCTCAGGCCTGGCTTGGCCACCCATGTGCTCACCTTGTAGATGGCCATGGTGGACCTGTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCTGATACAAGTGCCCATGTGGATGAGCCCCCTCCTGGGTCACCCCCTCCTCAAGGACCCCAACCCTGGGGGGCCCCGCCCTCCCACCTGCCTATACCAGGCATTGCCCACCTTACTGGGCGGGCGCTGCCCGATGCCCTCCCCCAGGACTCTCTCTGCCAGACCCAGCAGCAGCAGCCCCTGGAGGGGAACGCCGCTTTACTTCTCACTGTCCTCAGGCCTGCGGCTCACAGTGGGGCCACGCCCTCTGAGCTTGGCTCCCACAGCCGCTCTGGCCCGCCCAGCTCCTCCACTTGCCGGAGCAGGAGCAGCACAAACGCTGGAGTTGCCCAGCCCTGGGCAGACCTCGGCCCTGCACACGCGCTGCCTGTCCACGCGGAGTCCCCGGCCTCTCTGGGTGACAAATGGGGCTCTCCCTGGTCCTCCAAGATGAAGTTGAAGATTGTGGCCCTCCTTGGGCCTGCCGGGGGTATGTGGGCCTGGCAGCTGCCTCTGCATACCCTAAGGGCCGGTTTAGGGGAGGCCTAGAGGAAAGAGGAGGTGTCCCTGCCCAGGGATCCTGGAAAACAGAGTGTCCGGGTACAAAGGAAAAGTCCGGTCAAGGCCAAGGGTCAAGGCCGAGGGGAGCCGGGGGTCAGGGGAACAGGTGGATCTCACACCACTGCACACACAACACAGGTGAACTTGAATCCAAATGATTTATTTCAGTTTTGGCTCTTAAGCCACTTCCATTGGGAAGAAGAAACTCCCAGGAGTGACCTTTGAGAGCTGAGGGTTCTCGGGGTGGGGCAGTGTGAGGGGCTGGGCCAGTGTGAGGGGCAAAGTCCAACGGGCATCCCACTCCTGCGGCCTGGGCTTTCCCAGCTGATGGGGTGGGGGACACCCATTTCTTTAGTCCCAGCCCCCAGGGAACGGAGCAGAGGGCAGAGGGAGTGGGCTGCACCCACCAGGAAGCCTGGGAGTGCCCTTGCTGGGGGCTGGGGCAGAGGCAGCCCGGCAGGCCCTCAGGGAGGCTGGGGCTGGGGGCAGGGGTACGGTTGTGCCCGGGTACCCTTAATGTTTGAGCTGATGGGGGAGTCAGTTGTCCTTGACAGTCAGGGAAAGGGGCCAAAGGGGGCTCTAGACTTTCCCAGCCTGGAATGACAGAAAGTGCTGGAAGGCGGGGTTAGTGGGAGACAGGCCTTCAGGACCAGCCTCGGGCAGGCAGCTTGGCATTCTCCCAGGCCTGGTCTATGGACTCAGAGGTGCCTGGGCCCAGATCTGCCCGGGAGGGCAGTGGCTGGGCTTGGCCTGGCAGGGGCTGAATGGACGAGGTCAGCTGGGGCCGGTGAGAGGCTGGGGACCCTCAGGGTGAGAGCAGCAGCTGGATGAGCTTCTGGAACTCCTCGCGGTGCTCATAGATGTAGACCTCGGTCTCCCAGAGGGCGTTGACCAGCACTGTGTCACTGACCTCATCCAGCATGATGTCCGTCCCCAGCTGGGGGTTCAATCTGTTCGGGCCAGGGAGGAGGGGGTCACCCTAGGATGCTCAGGCTGGGCAGGGGACGCCAGCTAGGACCAGGGTGGGCTTGGGGAACAGAGCAGACCCTTGGGGAAGGGAAAGTCCACACTAGGGCTGGGAGGGGAAGGTCGGTGAGTCCGACCACGCCAGGGCACGGGGCCAAGGGCTGGGGCGGCTGAGCCCTCACCTGAAGTACTGGATGCCGACCATCTCGCACCAGGCCCGTGCCCGGTCCACAGCCCGCCCGTCTGGATCCGTGCACTGGTGAGAAGCAGCCTTGGTGAGTGCCGGGCCCACACCCCGCCCGGCCCGCACCCCGCCCGGCCCTGCCCTGCACTCTCGGAGCCCCAGCCTGGGGAGCCCCAGGCTCTTTCGAGTCAGGCTGAGCCACACAGCAGCAGAGCGGCTCGGGCAAAACCCCTTCCTGGGACTGCAGGGACTGTCCCAGCTGTGCAATCAGAGGGGCAGAGGTCTCAGCAGTGCCCTTTCAGGGATGATGAGTGGGGGAAAGGGTAGCGGCTGAGTCGACAGGCCTCCATGTCCCCTCTCCCTGAAGTTTCCCTCCCTCCCTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTTTGAGACAAGGTCTCCTTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCTGCCTCTTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGTCCAGCTAGTTTTTAATTTTTTGGTAGAGACAAAGTCTCATTATATTGCTCAGGCTGGTCTCAAACTGCTGTGCTCAAGTGGTCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCGCCCAGCCCGCTCTGGAGCCTTTGTCCATTCTGGGCTTCTACACTGCGCTATGTTTGCAGAAAGGGATCCGCAGCTAAAAAGCGTTTGAAAACCCCCCTGCTGGTGGTCACTGAGGGTCCCTGCCCCGCACTGAGACTCTGAACTGTGGACTCTCTCTCCCTCCAGCTGGCTAAAGGCGATGGACAGAGCCCTGCTGTCTCCTCCAACACCAAAGGCCCCACAGGATGAGGGGAAGCCATCGACCTGGGCTACAGACCCTGAGGGAAGTGGCCTGGGGGAGGGGCCCACACTCACACAGTCCACCACCATCTTGCCCAGTTCCTTGGCCCCAAAAACAGTCTTGGCCAGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCATCATTACTTCATTTAATCTCCAGCCAGTCTGTGGAGAGGGCACTGATCACCCAGTTTGCAAATGAGGGCTCTCAGCGAAGCTCAGGCCGGGAAGCAGCTGCAGGGGCCACGTGGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCC
|
TGGGCTCCCTCCTGCCTTGTCCAGCATCTGGGAGTTGGGGGTTCCCGCTGTATGGCTGAGTGCTCTCGGGGATCCTTACCCCCGTACCCACCCCTGGCCCAGCCTGGCTCCAGGCTTCCCTTTCCAGGACATCTGTAGCCCCGGCTGGCCCTCCGTCCTCCAGAGCGGGCCTGATTTCTGTGCCCTGGGAGGAGGGGCTCAGGCCTGGCTTGGCCACCCATGTGCTCACCTTGTAGATGGCCATGGTGGACCTGTAGAACTGGTCCATCTCGGGGGCCATGGAGGGGCTGTCCCGGGTCTGAGCAGGAGGCTGGGAGCTGGTGGCGATGGCACAGCCGGGAGCAGTGGTAGGTAGTCCCTCAGGTGCCCACGACTCAGCTGGCAGCGAGGAAGCCTCGGAGAGGGACCTGGAGATGGAGGCCTGCCTCAGAGGAGTGGCAGCTTAATTATTCACCAACTCGGGATGTCAGAATGTGATCTGGGGCGTAACCAGATCCGGCAGGGAAGGCATCCTGTGCCGGGCAGGCTCGTGTGACCTGCCCTTCAATTATTCACCCCTTGGAGCTGTGGGCTGATACAAGTGCCCATGTGGATGAGCCCCCTCCTGGGTCACCCCCTCCTCAAGGACCCCAACCCTGGGGGGCCCCGCCCTCCCACCTGCCTATACCAGGCATTGCCCACCTTACTGGGCGGGCGCTGCCCGATGCCCTCCCCCAGGACTCTCTCTGCCAGACCCAGCAGCAGCAGCCCCTGGAGGGGAACGCCGCTTTACTTCTCACTGTCCTCAGGCCTGCGGCTCACAGTGGGGCCACGCCCTCTGAGCTTGGCTCCCACAGCCGCTCTGGCCCGCCCAGCTCCTCCACTTGCCGGAGCAGGAGCAGCACAAACGCTGGAGTTGCCCAGCCCTGGGCAGACCTCGGCCCTGCACACGCGCTGCCTGTCCACGCGGAGTCCCCGGCCTCTCTGGGTGACAAATGGGGCTCTCCCTGGTCCTCCAAGATGAAGTTGAAGATTGTGGCCCTCCTTGGGCCTGCCGGGGGTATGTGGGCCTGGCAGCTGCCTCTGCATACCCTAAGGGCCGGTTTAGGGGAGGCCTAGAGGAAAGAGGAGGTGTCCCTGCCCAGGGATCCTGGAAAACAGAGTGTCCGGGTACAAAGGAAAAGTCCGGTCAAGGCCAAGGGTCAAGGCCGAGGGGAGCCGGGGGTCAGGGGAACAGGTGGATCTCACACCACTGCACACACAACACAGGTGAACTTGAATCCAAATGATTTATTTCAGTTTTGGCTCTTAAGCCACTTCCATTGGGAAGAAGAAACTCCCAGGAGTGACCTTTGAGAGCTGAGGGTTCTCGGGGTGGGGCAGTGTGAGGGGCTGGGCCAGTGTGAGGGGCAAAGTCCAACGGGCATCCCACTCCTGCGGCCTGGGCTTTCCCAGCTGATGGGGTGGGGGACACCCATTTCTTTAGTCCCAGCCCCCAGGGAACGGAGCAGAGGGCAGAGGGAGTGGGCTGCACCCACCAGGAAGCCTGGGAGTGCCCTTGCTGGGGGCTGGGGCAGAGGCAGCCCGGCAGGCCCTCAGGGAGGCTGGGGCTGGGGGCAGGGGTACGGTTGTGCCCGGGTACCCTTAATGTTTGAGCTGATGGGGGAGTCAGTTGTCCTTGACAGTCAGGGAAAGGGGCCAAAGGGGGCTCTAGACTTTCCCAGCCTGGAATGACAGAAAGTGCTGGAAGGCGGGGTTAGTGGGAGACAGGCCTTCAGGACCAGCCTCGGGCAGGCAGCTTGGCATTCTCCCAGGCCTGGTCTATGGACTCAGAGGTGCCTGGGCCCAGATCTGCCCGGGAGGGCAGTGGCTGGGCTTGGCCTGGCAGGGGCTGAATGGACGAGGTCAGCTGGGGCCGGTGAGAGGCTGGGGACCCTCAGGGTGAGAGCAGCAGCTGGATGAGCTTCTGGAACTCCTCGCGGTGCTCATAGATGTAGACCTCGGTCTCCCAGAGGGCGTTGACCAGCACTGTGTCACTGACCTCATCCAGCATGATGTCCGTCCCCAGCTGGGGTTCAATCTGTTCGGGCCAGGGAGGAGGGGGTCACCCTAGGATGCTCAGGCTGGGCAGGGGACGCCAGCTAGGACCAGGGTGGGCTTGGGGAACAGAGCAGACCCTTGGGGAAGGGAAAGTCCACACTAGGGCTGGGAGGGGAAGGTCGGTGAGTCCGACCACGCCAGGGCACGGGGCCAAGGGCTGGGGCGGCTGAGCCCTCACCTGAAGTACTGGATGCCGACCATCTCGCACCAGGCCCGTGCCCGGTCCACAGCCCGCCCGTCTGGATCCGTGCACTGGTGAGAAGCAGCCTTGGTGAGTGCCGGGCCCACACCCCGCCCGGCCCGCACCCCGCCCGGCCCTGCCCTGCACTCTCGGAGCCCCAGCCTGGGGAGCCCCAGGCTCTTTCGAGTCAGGCTGAGCCACACAGCAGCAGAGCGGCTCGGGCAAAACCCCTTCCTGGGACTGCAGGGACTGTCCCAGCTGTGCAATCAGAGGGGCAGAGGTCTCAGCAGTGCCCTTTCAGGGATGATGAGTGGGGGAAAGGGTAGCGGCTGAGTCGACAGGCCTCCATGTCCCCTCTCCCTGAAGTTTCCCTCCCTCCCTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTTTGAGACAAGGTCTCCTTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCTGCCTCTTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGTCCAGCTAGTTTTTAATTTTTTGGTAGAGACAAAGTCTCATTATATTGCTCAGGCTGGTCTCAAACTGCTGTGCTCAAGTGGTCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCGCCCAGCCCGCTCTGGAGCCTTTGTCCATTCTGGGCTTCTACACTGCGCTATGTTTGCAGAAAGGGATCCGCAGCTAAAAAGCGTTTGAAAACCCCCCTGCTGGTGGTCACTGAGGGTCCCTGCCCCGCACTGAGACTCTGAACTGTGGACTCTCTCTCCCTCCAGCTGGCTAAAGGCGATGGACAGAGCCCTGCTGTCTCCTCCAACACCAAAGGCCCCACAGGATGAGGGGAAGCCATCGACCTGGGCTACAGACCCTGAGGGAAGTGGCCTGGGGGAGGGGCCCACACTCACACAGTCCACCACCATCTTGCCCAGTTCCTTGGCCCCAAAAACAGTCTTGGCCAGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCATCATTACTTCATTTAATCTCCAGCCAGTCTGTGGAGAGGGCACTGATCACCCAGTTTGCAAATGAGGGCTCTCAGCGAAGCTCAGGCCGGGAAGCAGCTGCAGGGGCCACGTGGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCN
|
pathogenic
| 326,997 |
The chromosome 22, position 38113616 genetic variant in gene PLA2G6 (phospholipase A2 group VI): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Infantile_neuroaxonal_dystrophy', 'Iron_accumulation_in_brain', 'Neurodegeneration_with_brain_iron_accumulation', 'Neurodegeneration_with_brain_iron_accumulation_2B']
|
GAGTGACCTTTGAGAGCTGAGGGTTCTCGGGGTGGGGCAGTGTGAGGGGCTGGGCCAGTGTGAGGGGCAAAGTCCAACGGGCATCCCACTCCTGCGGCCTGGGCTTTCCCAGCTGATGGGGTGGGGGACACCCATTTCTTTAGTCCCAGCCCCCAGGGAACGGAGCAGAGGGCAGAGGGAGTGGGCTGCACCCACCAGGAAGCCTGGGAGTGCCCTTGCTGGGGGCTGGGGCAGAGGCAGCCCGGCAGGCCCTCAGGGAGGCTGGGGCTGGGGGCAGGGGTACGGTTGTGCCCGGGTACCCTTAATGTTTGAGCTGATGGGGGAGTCAGTTGTCCTTGACAGTCAGGGAAAGGGGCCAAAGGGGGCTCTAGACTTTCCCAGCCTGGAATGACAGAAAGTGCTGGAAGGCGGGGTTAGTGGGAGACAGGCCTTCAGGACCAGCCTCGGGCAGGCAGCTTGGCATTCTCCCAGGCCTGGTCTATGGACTCAGAGGTGCCTGGGCCCAGATCTGCCCGGGAGGGCAGTGGCTGGGCTTGGCCTGGCAGGGGCTGAATGGACGAGGTCAGCTGGGGCCGGTGAGAGGCTGGGGACCCTCAGGGTGAGAGCAGCAGCTGGATGAGCTTCTGGAACTCCTCGCGGTGCTCATAGATGTAGACCTCGGTCTCCCAGAGGGCGTTGACCAGCACTGTGTCACTGACCTCATCCAGCATGATGTCCGTCCCCAGCTGGGGGTTCAATCTGTTCGGGCCAGGGAGGAGGGGGTCACCCTAGGATGCTCAGGCTGGGCAGGGGACGCCAGCTAGGACCAGGGTGGGCTTGGGGAACAGAGCAGACCCTTGGGGAAGGGAAAGTCCACACTAGGGCTGGGAGGGGAAGGTCGGTGAGTCCGACCACGCCAGGGCACGGGGCCAAGGGCTGGGGCGGCTGAGCCCTCACCTGAAGTACTGGATGCCGACCATCTCGCACCAGGCCCGTGCCCGGTCCACAGCCCGCCCGTCTGGATCCGTGCACTGGTGAGAAGCAGCCTTGGTGAGTGCCGGGCCCACACCCCGCCCGGCCCGCACCCCGCCCGGCCCTGCCCTGCACTCTCGGAGCCCCAGCCTGGGGAGCCCCAGGCTCTTTCGAGTCAGGCTGAGCCACACAGCAGCAGAGCGGCTCGGGCAAAACCCCTTCCTGGGACTGCAGGGACTGTCCCAGCTGTGCAATCAGAGGGGCAGAGGTCTCAGCAGTGCCCTTTCAGGGATGATGAGTGGGGGAAAGGGTAGCGGCTGAGTCGACAGGCCTCCATGTCCCCTCTCCCTGAAGTTTCCCTCCCTCCCTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTTTGAGACAAGGTCTCCTTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCTGCCTCTTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGTCCAGCTAGTTTTTAATTTTTTGGTAGAGACAAAGTCTCATTATATTGCTCAGGCTGGTCTCAAACTGCTGTGCTCAAGTGGTCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCGCCCAGCCCGCTCTGGAGCCTTTGTCCATTCTGGGCTTCTACACTGCGCTATGTTTGCAGAAAGGGATCCGCAGCTAAAAAGCGTTTGAAAACCCCCCTGCTGGTGGTCACTGAGGGTCCCTGCCCCGCACTGAGACTCTGAACTGTGGACTCTCTCTCCCTCCAGCTGGCTAAAGGCGATGGACAGAGCCCTGCTGTCTCCTCCAACACCAAAGGCCCCACAGGATGAGGGGAAGCCATCGACCTGGGCTACAGACCCTGAGGGAAGTGGCCTGGGGGAGGGGCCCACACTCACACAGTCCACCACCATCTTGCCCAGTTCCTTGGCCCCAAAAACAGTCTTGGCCAGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCATCATTACTTCATTTAATCTCCAGCCAGTCTGTGGAGAGGGCACTGATCACCCAGTTTGCAAATGAGGGCTCTCAGCGAAGCTCAGGCCGGGAAGCAGCTGCAGGGGCCACGTGGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCG
|
GAGTGACCTTTGAGAGCTGAGGGTTCTCGGGGTGGGGCAGTGTGAGGGGCTGGGCCAGTGTGAGGGGCAAAGTCCAACGGGCATCCCACTCCTGCGGCCTGGGCTTTCCCAGCTGATGGGGTGGGGGACACCCATTTCTTTAGTCCCAGCCCCCAGGGAACGGAGCAGAGGGCAGAGGGAGTGGGCTGCACCCACCAGGAAGCCTGGGAGTGCCCTTGCTGGGGGCTGGGGCAGAGGCAGCCCGGCAGGCCCTCAGGGAGGCTGGGGCTGGGGGCAGGGGTACGGTTGTGCCCGGGTACCCTTAATGTTTGAGCTGATGGGGGAGTCAGTTGTCCTTGACAGTCAGGGAAAGGGGCCAAAGGGGGCTCTAGACTTTCCCAGCCTGGAATGACAGAAAGTGCTGGAAGGCGGGGTTAGTGGGAGACAGGCCTTCAGGACCAGCCTCGGGCAGGCAGCTTGGCATTCTCCCAGGCCTGGTCTATGGACTCAGAGGTGCCTGGGCCCAGATCTGCCCGGGAGGGCAGTGGCTGGGCTTGGCCTGGCAGGGGCTGAATGGACGAGGTCAGCTGGGGCCGGTGAGAGGCTGGGGACCCTCAGGGTGAGAGCAGCAGCTGGATGAGCTTCTGGAACTCCTCGCGGTGCTCATAGATGTAGACCTCGGTCTCCCAGAGGGCGTTGACCAGCACTGTGTCACTGACCTCATCCAGCATGATGTCCGTCCCCAGCTGGGGGTTCAATCTGTTCGGGCCAGGGAGGAGGGGGTCACCCTAGGATGCTCAGGCTGGGCAGGGGACGCCAGCTAGGACCAGGGTGGGCTTGGGGAACAGAGCAGACCCTTGGGGAAGGGAAAGTCCACACTAGGGCTGGGAGGGGAAGGTCGGTGAGTCCGACCACGCCAGGGCACGGGGCCAAGGGCTGGGGCGGCTGAGCCCTCACCTGAAGTACTGGATGCCGACCATCTCGCACCAGGCCCGTGCCCGGTCCACAGCCCGCCCGTCTGGATCCGTGCACTGGTGAGAAGCAGCCTTGGTGAGTGCCGGGCCCACACCCCGCCCGGCCCGCACCCCGCCCGGCCCTGCCCTGCACTCTCGGAGCCCCAGCCTGGGGAGCCCCAGGCTCTTTCGAGTCAGGCTGAGCCACACAGCAGCAGAGCGGCTCGGGCAAAACCCCTTCCTGGGACTGCAGGGACTGTCCCAGCTGTGCAATCAGAGGGGCAGAGGTCTCAGCAGTGCCCTTTCAGGGATGATGAGTGGGGGAAAGGGTAGCGGCTGAGTCGACAGGCCTCCATGTCCCCTCTCCCTGAAGTTTCCCTCCCTCCCTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTTTGAGACAAGGTCTCCTTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCACAGCTCACTGCAGCCTCTGCCTCTTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGTCCAGCTAGTTTTTAATTTTTTGGTAGAGACAAAGTCTCATTATATTGCTCAGGCTGGTCTCAAACTGCTGTGCTCAAGTGGTCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCGCCCAGCCCGCTCTGGAGCCTTTGTCCATTCTGGGCTTCTACACTGCGCTATGTTTGCAGAAAGGGATCCGCAGCTAAAAAGCGTTTGAAAACCCCCCTGCTGGTGGTCACTGAGGGTCCCTGCCCCGCACTGAGACTCTGAACTGTGGACTCTCTCTCCCTCCAGCTGGCTAAAGGCGATGGACAGAGCCCTGCTGTCTCCTCCAACACCAAAGGCCCCACAGGATGAGGGGAAGCCATCGACCTGGGCTACAGACCCTGAGGGAAGTGGCCTGGGGGAGGGGCCCACACTCACACAGTCCACCACCATCTTGCCCAGTTCCTTGGCCCCAAAAACAGTCTTGGCCAGCTCCCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATCTGCTCAGGACAGCATCTGTGTACCAACAGGACCACACATACACCAGCTGCAAGAAGGATCCCGCCCACCCCATCTGATGCTGGCCCAAGTCAAGTCGTGGCCAGGGGAGGAAAGGCAGACGGTGTTCCTTGGTGTTGGTGATTTGCCAGGTATTTGCATCATTACTTCATTTAATCTCCAGCCAGTCTGTGGAGAGGGCACTGATCACCCAGTTTGCAAATGAGGGCTCTCAGCGAAGCTCAGGCCGGGAAGCAGCTGCAGGGGCCACGTGGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGNNN
|
pathogenic
| 327,010 |
Considering the variant on chromosome 22, location 38116185, involving gene PLA2G6 (phospholipase A2 group VI), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Infantile_neuroaxonal_dystrophy', 'PLA2G6-associated_neurodegeneration']
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AGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGCCCGCCACACCAGCTGGTCTAGGGGCGGGGAAGGAGGGCGGCCCAGTGGCACAAGGGACTGGCATAAAACCCATGCACTCCAGATCTCAGGGTGTGCGTGTTGGGGGCTGGGGGTGCGGGAAGAGGGGAGGCTGGGAACTCTTCAGAAGCAGGACCCACGAAGCCACACTCTCTGGCTAGTTCGTCCTGGTGGAAGGCAGGTACAGCTGAGGACTTTCCAGGGACTTTTCTAACCTGCCAGGGGCCTGACAGCTCCCCCGCAATCCCTGTCCTCAGCCAATAAAGACCAGTGCAGCGGGTGGGCTGGTGGCACGGTGAGGGTGCCTGATGGCAAGTGCACGACTCCCACCCACCACCCCACAGCCTCTCGGGCCAGTCGCTTCCCATGGATGCATCAAACATGGTTTAAACCTGAGGGCTGAGCTGGAGGCCTGAGGTTAACGTTCTGGTTGAAACGAGGCTCCCGGACAGTTTCTGGAGCATCGTAGTTCCGGAAGAGGTGGAGTTCAGCCGGCTGCCGGTCAGACAGTGTCCCTGTCAGCATCACCCTGGAGAGAAATGAGGCAGGAGGACGGCTGAGCCACCCGCCCATCCACCTTTCCCTTTCCCCACAATTCACACCCCAGGGCCTTGGGTAGCAGAGTGCCCACTCCAACCTCTGTTCGGGATAGGTGGGCTTCTCCCCGCACCATCCCCGCAAAACAGGCTCTCTCCGGCAGTGCTGGAGGAGTGTCAGATTGGTCCAACCTTGGGGGCACAATTCAGCAAAAGTTGGTTTTTTTGAAAGGCTAATCCAATGGAAAAACCTGTTGCAAGACTGATAAAACATGGCTGTTATCTGTTATCAAAATCAGGAAAGAAAAGGGGGCCGCACCAACACACACTGCAGACGTTAGAAAAAGGAGAATCGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAATAATACAAAAATTAGGTGTGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGAATATTTTGAACAACTCTAAGCCAATAAGCTTAAAGATTTAGATGAAATGGACACATTCCTAGAAAAACCTCACTTAACCAAAACTAACTCAAAAAGGTATTTAGAAACCCCGAGTGGTCAGTCTCACAACCACTATAGAAATTAATTCCATCATCAAAAATCCTCCCACCAAGCAAACTCCAGGCCTAGAAGAATTTACTATCAAGTTCTACCATAAATTCAAAATAAACTATTATACTAACTCTTCCAAGAAAAATAAAAAGAGGAAATATTTCCTCAAAACCCAAAATAGGAAAAAACGGGTCAAGTTCGCCCACGAGCGTGGACACAAAAATCTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTACAGTGGCGCAATCTCGGCTCACTGCAAGATCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCTGGCCAAAAATCTTAAACAAAATATGATCAAACTGAACCCATCAGAATTCTCTCTAGAGAAGGCACCAGTAAGAGAGAGTAGGCCTCAAACAGGTATTTGCACATCCGACATTGACAGCAGTCAATTTACAACTAAAATATCCATCAATGGATGAATGGAGAAGCAAAACGTGTATCCAACAGACAATGGAGTTTTTCAGCCTTAAAAAGGAAGGAAATTCTGACACACGCTACAACATGGATGCCAAGTGAAATAAGCCAGTCATGGCCGGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGGAGTTTGAGACTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGCCGGGCATGGTGGTGCACGCCTATAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAAGCAGAAATTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGATAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAATAAGCCAGTCACAAAAAGACAAATACTGTATGATTCCACTTACATAAGGTACGGTCAAAGATAAAATTGCAACAAATTTAAAGATGTTAATTGGCTTTTATTGATGAACTGAGAGTCAGGCAGGCCACAAAACCAGAATAGGTTCAAAGAACTCTGGCCTGCAACGTGGTCAGG
|
AGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCGCCCGGCCGCTGCCTCTCTTATTTGCTTCCGAACAAGCTCTGCTGCCGATTTGCTGGATGATCTTGGGTGATGCCTCCCACTCTGGGTCCCAGGCTCCCCATCCGCACGCAATAGGAGAGTTAGACTGGCTAGTGTCTGACAGTCTGACGGTCTCTGCCGCCTGCAGGAAGCCCGCCCTGCCCGATCTGGCCCCTAGAGGGCGCTTCTCTGTCTGCCCAGAGCCTCTGCTGCGCTGCCCAGGACGCCCTGGGGCTTCGGGAAACCACAGCAGCAAGGATGCAGCTCAGGCTCCCGGCAGTGCTGTGAACATTTCACAGACAACAGCATGCCAAGGCCTCGCAGCCTCCCCAGGCAGGCGCTATGATGGCCCCATTAGGTAGCTGCAGTGAGTGCAGGCAGAACGGGGACCCCCAGAGGCGCCCTGGCTCCAGGGTCTGAGCTCAGCCACCGCGCTCGCCCACCCCGGTCACCCACCGCCCGCCACGCCACAGGGCCTCCCCTAGCATGCTGGGTCCTGCCAGCCTCTGCTGTACCTCTGCAGAGAGAGGGCTGCTGCTCTTCCTCCAGATCACTGATTCTGCACTGCTCTGTCCCCAAGGGCCTCAGGATGGGTCCCCTGTTCCATGGAGCCCTTTCCGAGCCCCCAGGCCTTTTAGCAGAGGCCTCACGGTCCTCCACCACAGCACCGGCAACCCGTGGGGACAGGCATTCCTGTGGGACTGTCTATCCACAGAGGTGAGCTCAAGGGCAAGCATGTGTCCTGTCCCCAGGCTGGCTCGAGTGGCACGTTCATGGTATGCATGCCGCCCTCCCCACTCATGCACACTTAGAGCACAGTGGTCCTCAGATCCCCCTTAGCACAGTGCTTCAGGCAGATCCCACCCATGGAACAGGTTCCAGTGAGATCAATTTGCCCTGTGTGCACATATGAATGAGTGCGTGTGTAAAAGCCACCTGCTGTCCTGGGGGTCGGTCCCTAGCATGGTTTGCTGACACAGGATTGGCTCCAGGGAGCAGTGGGTCCAGGCCCTCTGGCCTACGGCACTCACCTTGCGGATCAGGTCCTGATTGTACTCATGGATCTCGGTCATGGCATCCAGCGTGGGGTTGTTGGCCAGCAGCCCACCGTCCAGGAAGCGCCCATTGGGTCGGAAGTAAGTAGGAGCTGCCCCGCTGCTTCGGGCCGCCCGCCACACCAGCTGGTCTAGGGGCGGGGAAGGAGGGCGGCCCAGTGGCACAAGGGACTGGCATAAAACCCATGCACTCCAGATCTCAGGGTGTGCGTGTTGGGGGCTGGGGGTGCGGGAAGAGGGGAGGCTGGGAACTCTTCAGAAGCAGGACCCACGAAGCCACACTCTCTGGCTAGTTCGTCCTGGTGGAAGGCAGGTACAGCTGAGGACTTTCCAGGGACTTTTCTAACCTGCCAGGGGCCTGACAGCTCCCCCGCAATCCCTGTCCTCAGCCAATAAAGACCAGTGCAGCGGGTGGGCTGGTGGCACGGTGAGGGTGCCTGATGGCAAGTGCACGACTCCCACCCACCACCCCACAGCCTCTCGGGCCAGTCGCTTCCCATGGATGCATCAAACATGGTTTAAACCTGAGGGCTGAGCTGGAGGCCTGAGGTTAACGTTCTGGTTGAAACGAGGCTCCCGGACAGTTTCTGGAGCATCGTAGTTCCGGAAGAGGTGGAGTTCAGCCGGCTGCCGGTCAGTGTCCCTGTCAGCATCACCCTGGAGAGAAATGAGGCAGGAGGACGGCTGAGCCACCCGCCCATCCACCTTTCCCTTTCCCCACAATTCACACCCCAGGGCCTTGGGTAGCAGAGTGCCCACTCCAACCTCTGTTCGGGATAGGTGGGCTTCTCCCCGCACCATCCCCGCAAAACAGGCTCTCTCCGGCAGTGCTGGAGGAGTGTCAGATTGGTCCAACCTTGGGGGCACAATTCAGCAAAAGTTGGTTTTTTTGAAAGGCTAATCCAATGGAAAAACCTGTTGCAAGACTGATAAAACATGGCTGTTATCTGTTATCAAAATCAGGAAAGAAAAGGGGGCCGCACCAACACACACTGCAGACGTTAGAAAAAGGAGAATCGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCCCGTCTCTACTAATAATACAAAAATTAGGTGTGGTTGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGCAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGTCATTGCACTCCAGCCTGGGCGATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAGAATATTTTGAACAACTCTAAGCCAATAAGCTTAAAGATTTAGATGAAATGGACACATTCCTAGAAAAACCTCACTTAACCAAAACTAACTCAAAAAGGTATTTAGAAACCCCGAGTGGTCAGTCTCACAACCACTATAGAAATTAATTCCATCATCAAAAATCCTCCCACCAAGCAAACTCCAGGCCTAGAAGAATTTACTATCAAGTTCTACCATAAATTCAAAATAAACTATTATACTAACTCTTCCAAGAAAAATAAAAAGAGGAAATATTTCCTCAAAACCCAAAATAGGAAAAAACGGGTCAAGTTCGCCCACGAGCGTGGACACAAAAATCTTTTTTTTGAGACGGAGTCTCACTCTGTTGCCCAGGCTGTAGTACAGTGGCGCAATCTCGGCTCACTGCAAGATCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCTGGCCAAAAATCTTAAACAAAATATGATCAAACTGAACCCATCAGAATTCTCTCTAGAGAAGGCACCAGTAAGAGAGAGTAGGCCTCAAACAGGTATTTGCACATCCGACATTGACAGCAGTCAATTTACAACTAAAATATCCATCAATGGATGAATGGAGAAGCAAAACGTGTATCCAACAGACAATGGAGTTTTTCAGCCTTAAAAAGGAAGGAAATTCTGACACACGCTACAACATGGATGCCAAGTGAAATAAGCCAGTCATGGCCGGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTTAGGAGTTTGAGACTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAATACAAAAAATTAGCCGGGCATGGTGGTGCACGCCTATAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAAGCAGAAATTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGATAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGAAAGAAATAAGCCAGTCACAAAAAGACAAATACTGTATGATTCCACTTACATAAGGTACGGTCAAAGATAAAATTGCAACAAATTTAAAGATGTTAATTGGCTTTTATTGATGAACTGAGAGTCAGGCAGGCCACAAAACCAGAATAGGTTCAAAGAACTCTGGCCTGCAACGTGGTCAGGNNNN
|
pathogenic
| 327,027 |
For chromosome 22, position 38120826, gene PLA2G6 (phospholipase A2 group VI): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Autosomal_recessive_Parkinson_disease_14', 'Infantile_neuroaxonal_dystrophy', 'Iron_accumulation_in_brain', 'Neurodegeneration_with_brain_iron_accumulation_2B', 'PLA2G6-associated_neurodegeneration']
|
GGGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGATGGGATCACAGCCCACTGTAGCCTCAGCCTCCGGGGCTCAAGTGATCCTCCCACCTCAGCCTCTCAATTAGCTGGGACTACAGCCATAGTGCCACCATGCCCAGCTAATTGTTAGTTTTAAATTTTTTGTAGAGATGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCGACCTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGAGCTGGGATTACAGGCTTGAGCCACCATGCCTGGCATATTCCTATTTTTGAGAAGAGGTAGAAACTTCAGGGTCTATGCTTGTATCCACTTCTCTCTACTGCCCCCAAGAATAGCCATGATGTTTTTGAAGAAGGCCAAGGTGGAGGATCTGCCACCCAGACACCAGGACTCACCACACAGCGGTAGTTTTTTATGCTCTGTGGTCCGGGCACAGAGACAGCTTTCCAACCAGTGGAACAAAACACAGCCTGGAGCAGATCCAAGAGCAGAGGGATGCTTGACCCACTGCTGAGGAAGCGGAGGGAAGGACAGACTTCACAGATGGGGCTGGGAAAAATTGGCCAATCACGTGGAAAACATTAAATTGGATCTTGGATTTCACCCTCATACAAAAATCAATTCCAGGTTGATAAAAGACCTCAATGTAAAAGGCAGATCTAGAGAGCTTTCCAGCTCGACACAGGAGAATCGTGTGCTGCTTGGGGGCAGCAAAGGGGTTTATGAACGAGAAATAAAAAGCACAAACTAGGCTGGGCATGGTGGCTGATGCCTGTAATGGGAAACCAAGGCGGGAGGATCGCCTCAGCTCAGGAGTTCAAGACTAGCCTGGACAACATGGTGAAACCCCATCTCTACAAAAAATACATGTGTTGGCACATGCTAGTAGTCCCAGGCACTCAGGCGGCTGAGATGGGAGGACTGCTTGAACCCAGGAGGTCGAGGCTGCAGTAAGCCGTGTTCACAGCAATATACTCCAGCATGGGCCCCACAGCAAGACCCTGTTTCAAAAAAAAGAAAGAAAGAAAGGAAAAAATCACAAACTACAAGAAGAAAAATATTTATAAATATTATCTACCTCATTAAGAACATGGGCCACCAAAACCAAAACCAAAACAAAAAACAAAAAACAAAAACCTAGAAACACCACAGAGCAGAAAGACAAGCCACAGAGTGGGAAAAAAGATTGAAGGTCCCTGGCCTTGGACCCTAGGGAAGACCGCAGAGGGGATGCCGGGCCCCTAAGACTGGGGGACACTCACTTTCAAAATATGAAAAAATCACTCAGAAATGCTCAAAACACTCCTCTTGGAACACACCATTCATCCAGCCCCGAACGGGATGCATTGCTTAGTCCTAGGATTTGGGCTTCCCAAACAAATGTTTCCTGGAAATGTGACTTTCTCCTTCAGTCTGACTTAAATTAGTTCAAGTCTTGTAGGCCTTAAATTAAAGGTAAGACTGAAGCCCTCTGATTATAACCTAGTAGTCCGATCCTGGGAGCGAGTGCTGTCTGAAATGTGAGAAAATGTTTAGCCGTGTCATTTGAAAGGCCAGTGGGTTCCTTTTGCCTGGGCAGCAAAAACCCAGCCTCTGCCCAGGTGGTCTCAGAGAAGGGTGGCCCAGGCTCTCTCCAGGCAAGCCCCAGACCCCTGGCCGGGCAGGGCAGAGCCAGGCAGGGCAGAGCCGGCAGGGCAGAGCCGGGCAGGGCAGAGCCAGGCAGGGCAGAGCCAGGCCCACCAGGCCACGCCCCTCCTGCGCTCAGCAGGTGTCTGCATGCCCAAGTGAGAGCCACACCCCAGCCCTCTGCCTCCCTGGGAAGGGGGTTCCCTCTGCTCCCCTCAAGCGTGGGGCGCTCTTCCCCCTCCCTCAGCAGGACAGGGAGCCCTCTGTCCCCAGGGAACAGCCACAGTGGGCACAGCTGCGGCCACGGCCCCAGTGCGCCAGGGCTTACTTGGGTTTCCTGACGTCCGTCATCTTGGTGTGCTCCCCAAACTCCCGCTTCAGGAACTCCTCCAGGGGCCCCGACTCGTAGGGCCTGGAGCCCCGGAACACCTCATCCTTCATGCGAAAGTACATGCCGCGCATGTAGGCCATGGACTTACCTAGGAACAAAGGGGTCAGAGGCGGGGAGATGCAGCGGCCACACGCAGGGCTCCCGTAGAACAGCCTGCAGAGCGCCTGAACGCAGGAGGTGGCAGGAGGAAGCGGGTTTACCGAGGCCTAAGCAAACCCAAATTCTGGGCCCTTCCTTTGCAACCTCCCAGACAGACAGAGAGAAACCTCCTTCCGGCTGGACATGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTATTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGCAGGAGAATCGCTTGAACCCGGGAGCGGAGGTTGCAGTGAGCCAAGATGCACCACTGCACTCCAGCCTGGGCAACGGAGAGACTCAAAAACCACTGAAGCCCCACGGCTCTGCACTTCATCTTGTATTCATGATTTTGTATTATTTTCCTTAAAGAAGAGCCCCTCAAGAGTAAAAGCTTATAAAAGCTAGACCCACGTTGTTTGTCACAGAAAACAAGGAATAGCCCTGTCCTTTGAGCCTTCAGAACAGACAGGGCCAAGGGGCCGGCTGCACCTCCAGGAAGGAGAAGCTGCCCCACTTCCCCCGTGAGGCAGTGAGTTCCCCAGGGCCAGGGATGTACAAGCAGAGGGTAGCTGAAAGGAGGCCATCTGCCCACACCGGAGGATCAGCCAGGAGACCTCTCAAATCCCCTCCATGGCCCCTGGGAGTCTCAAGACCCCGGATGGGGAAGAAATGGTCCCTGAAGAAGGACGTGGCCCTTTTGGAGAAGAAGCTAGGACTCTGCCCAGTCTGCCTGCTCAGACCTCGTGCCCGCCCTTGGACCCTGTGGAAGACCAGAGAGGGGATGCTGGGACCCTGAGGCTGGGGTAGAGAGCTGGGCACACTGCTGGAGACCCAGTCCTGACTGCCCAATTCACTGGCTGATCCTCTCTGGTTCTCAGTTTCCCCATCTGCTCACCCCGCAGGGCTATGGTGAGAATCATCAAAAGGAAATGAAATACCAGTCAATAAACCGCCGTGGACACTAACGTCCCGGCAACTTGACAGATGACTCTCCTCCTCCGCCCATGGGACTCTGTCCCCAGCACCTCCTGGACTGGCTGAGCCCCCTGCTCCTGAGGCTGGGGTATGCCTGGCTCAGCTCTGCATCCCCAGCATCCAACACAGGCCTGGCCCACAGGCCCTGATACCCACCCTAGGGTGGGGAGTCCTCCCCGGGCACCTCCAAGACTTTGCATGACCAGGATCCAGATGTGGGGGCGCTCTGGAGAAAATGGAATCTGACCAGCACAGGGGCAGGGGCACCAGTCAGACATGTTGAGTCCCAGGACAATGTCCAGGGGGTTGGGGGGAGCTGAGGACCCTGATCTGGCAGTGCCCCTCCCCACCTGTCAGCACCTAGAAGCTCAGACAGCTCCACAGAGGAGCCGTCACAACACTGACCACCCGGCTATCTGTCCAGCAAGCCAGGCGCCTTCGCAAAGCGGCAGTGAAAGGAGACTACACAGTGCCCTGTGGCCTAGGAGGTGCCAGGCTGGGAGTCTAGGGGACTGTGCTCCAGCCCAGCGACCCCATGGATGAGCTATGTGACTTCACGTCATCCCTCCCCACCTGGGAACTTAATTTCCCAGTAAAATTTCCCAGTAAAATGAAGTGTGCAGGCGAGGGCTCTGGCATCCTGAGGCTCAGTGGCTCCTCATTCCTGAGACTGCCTGCTGCGTGCACCCTGGGAATGGGATTCCTTATGTGCAGCAGGCTGTGTGGCCCCTGGTGCCTGCTTTGCAGGGGTGAGGGGAGGAGGGGTTAAGGCAGTCGATAGGAAACGCTTCCTATGCCAAAATTTCACACAGCCAGCTCTACCCTCTGTG
|
GGGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGATGGGATCACAGCCCACTGTAGCCTCAGCCTCCGGGGCTCAAGTGATCCTCCCACCTCAGCCTCTCAATTAGCTGGGACTACAGCCATAGTGCCACCATGCCCAGCTAATTGTTAGTTTTAAATTTTTTGTAGAGATGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCGACCTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGAGCTGGGATTACAGGCTTGAGCCACCATGCCTGGCATATTCCTATTTTTGAGAAGAGGTAGAAACTTCAGGGTCTATGCTTGTATCCACTTCTCTCTACTGCCCCCAAGAATAGCCATGATGTTTTTGAAGAAGGCCAAGGTGGAGGATCTGCCACCCAGACACCAGGACTCACCACACAGCGGTAGTTTTTTATGCTCTGTGGTCCGGGCACAGAGACAGCTTTCCAACCAGTGGAACAAAACACAGCCTGGAGCAGATCCAAGAGCAGAGGGATGCTTGACCCACTGCTGAGGAAGCGGAGGGAAGGACAGACTTCACAGATGGGGCTGGGAAAAATTGGCCAATCACGTGGAAAACATTAAATTGGATCTTGGATTTCACCCTCATACAAAAATCAATTCCAGGTTGATAAAAGACCTCAATGTAAAAGGCAGATCTAGAGAGCTTTCCAGCTCGACACAGGAGAATCGTGTGCTGCTTGGGGGCAGCAAAGGGGTTTATGAACGAGAAATAAAAAGCACAAACTAGGCTGGGCATGGTGGCTGATGCCTGTAATGGGAAACCAAGGCGGGAGGATCGCCTCAGCTCAGGAGTTCAAGACTAGCCTGGACAACATGGTGAAACCCCATCTCTACAAAAAATACATGTGTTGGCACATGCTAGTAGTCCCAGGCACTCAGGCGGCTGAGATGGGAGGACTGCTTGAACCCAGGAGGTCGAGGCTGCAGTAAGCCGTGTTCACAGCAATATACTCCAGCATGGGCCCCACAGCAAGACCCTGTTTCAAAAAAAAGAAAGAAAGAAAGGAAAAAATCACAAACTACAAGAAGAAAAATATTTATAAATATTATCTACCTCATTAAGAACATGGGCCACCAAAACCAAAACCAAAACAAAAAACAAAAAACAAAAACCTAGAAACACCACAGAGCAGAAAGACAAGCCACAGAGTGGGAAAAAAGATTGAAGGTCCCTGGCCTTGGACCCTAGGGAAGACCGCAGAGGGGATGCCGGGCCCCTAAGACTGGGGGACACTCACTTTCAAAATATGAAAAAATCACTCAGAAATGCTCAAAACACTCCTCTTGGAACACACCATTCATCCAGCCCCGAACGGGATGCATTGCTTAGTCCTAGGATTTGGGCTTCCCAAACAAATGTTTCCTGGAAATGTGACTTTCTCCTTCAGTCTGACTTAAATTAGTTCAAGTCTTGTAGGCCTTAAATTAAAGGTAAGACTGAAGCCCTCTGATTATAACCTAGTAGTCCGATCCTGGGAGCGAGTGCTGTCTGAAATGTGAGAAAATGTTTAGCCGTGTCATTTGAAAGGCCAGTGGGTTCCTTTTGCCTGGGCAGCAAAAACCCAGCCTCTGCCCAGGTGGTCTCAGAGAAGGGTGGCCCAGGCTCTCTCCAGGCAAGCCCCAGACCCCTGGCCGGGCAGGGCAGAGCCAGGCAGGGCAGAGCCGGCAGGGCAGAGCCGGGCAGGGCAGAGCCAGGCAGGGCAGAGCCAGGCCCACCAGGCCACGCCCCTCCTGCGCTCAGCAGGTGTCTGCATGCCCAAGTGAGAGCCACACCCCAGCCCTCTGCCTCCCTGGGAAGGGGGTTCCCTCTGCTCCCCTCAAGCGTGGGGCGCTCTTCCCCCTCCCTCAGCAGGACAGGGAGCCCTCTGTCCCCAGGGAACAGCCACAGTGGGCACAGCTGCGGCCACGGCCCCAGTGCGCCAGGGCTTACTTGGGTTTCCTGACGTCCGTCATCTTGGTGTGCTCCCCAAACTCCCGCTTCAGGAACTCCTCCAGGGGCCCGACTCGTAGGGCCTGGAGCCCCGGAACACCTCATCCTTCATGCGAAAGTACATGCCGCGCATGTAGGCCATGGACTTACCTAGGAACAAAGGGGTCAGAGGCGGGGAGATGCAGCGGCCACACGCAGGGCTCCCGTAGAACAGCCTGCAGAGCGCCTGAACGCAGGAGGTGGCAGGAGGAAGCGGGTTTACCGAGGCCTAAGCAAACCCAAATTCTGGGCCCTTCCTTTGCAACCTCCCAGACAGACAGAGAGAAACCTCCTTCCGGCTGGACATGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTATTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGCAGGAGAATCGCTTGAACCCGGGAGCGGAGGTTGCAGTGAGCCAAGATGCACCACTGCACTCCAGCCTGGGCAACGGAGAGACTCAAAAACCACTGAAGCCCCACGGCTCTGCACTTCATCTTGTATTCATGATTTTGTATTATTTTCCTTAAAGAAGAGCCCCTCAAGAGTAAAAGCTTATAAAAGCTAGACCCACGTTGTTTGTCACAGAAAACAAGGAATAGCCCTGTCCTTTGAGCCTTCAGAACAGACAGGGCCAAGGGGCCGGCTGCACCTCCAGGAAGGAGAAGCTGCCCCACTTCCCCCGTGAGGCAGTGAGTTCCCCAGGGCCAGGGATGTACAAGCAGAGGGTAGCTGAAAGGAGGCCATCTGCCCACACCGGAGGATCAGCCAGGAGACCTCTCAAATCCCCTCCATGGCCCCTGGGAGTCTCAAGACCCCGGATGGGGAAGAAATGGTCCCTGAAGAAGGACGTGGCCCTTTTGGAGAAGAAGCTAGGACTCTGCCCAGTCTGCCTGCTCAGACCTCGTGCCCGCCCTTGGACCCTGTGGAAGACCAGAGAGGGGATGCTGGGACCCTGAGGCTGGGGTAGAGAGCTGGGCACACTGCTGGAGACCCAGTCCTGACTGCCCAATTCACTGGCTGATCCTCTCTGGTTCTCAGTTTCCCCATCTGCTCACCCCGCAGGGCTATGGTGAGAATCATCAAAAGGAAATGAAATACCAGTCAATAAACCGCCGTGGACACTAACGTCCCGGCAACTTGACAGATGACTCTCCTCCTCCGCCCATGGGACTCTGTCCCCAGCACCTCCTGGACTGGCTGAGCCCCCTGCTCCTGAGGCTGGGGTATGCCTGGCTCAGCTCTGCATCCCCAGCATCCAACACAGGCCTGGCCCACAGGCCCTGATACCCACCCTAGGGTGGGGAGTCCTCCCCGGGCACCTCCAAGACTTTGCATGACCAGGATCCAGATGTGGGGGCGCTCTGGAGAAAATGGAATCTGACCAGCACAGGGGCAGGGGCACCAGTCAGACATGTTGAGTCCCAGGACAATGTCCAGGGGGTTGGGGGGAGCTGAGGACCCTGATCTGGCAGTGCCCCTCCCCACCTGTCAGCACCTAGAAGCTCAGACAGCTCCACAGAGGAGCCGTCACAACACTGACCACCCGGCTATCTGTCCAGCAAGCCAGGCGCCTTCGCAAAGCGGCAGTGAAAGGAGACTACACAGTGCCCTGTGGCCTAGGAGGTGCCAGGCTGGGAGTCTAGGGGACTGTGCTCCAGCCCAGCGACCCCATGGATGAGCTATGTGACTTCACGTCATCCCTCCCCACCTGGGAACTTAATTTCCCAGTAAAATTTCCCAGTAAAATGAAGTGTGCAGGCGAGGGCTCTGGCATCCTGAGGCTCAGTGGCTCCTCATTCCTGAGACTGCCTGCTGCGTGCACCCTGGGAATGGGATTCCTTATGTGCAGCAGGCTGTGTGGCCCCTGGTGCCTGCTTTGCAGGGGTGAGGGGAGGAGGGGTTAAGGCAGTCGATAGGAAACGCTTCCTATGCCAAAATTTCACACAGCCAGCTCTACCCTCTGTGN
|
pathogenic
| 327,034 |
The genetic variant at chromosome 22, position 38123137, affecting gene PLA2G6 (phospholipase A2 group VI): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Infantile_neuroaxonal_dystrophy']
|
TCCTTCCGGCTGGACATGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTATTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGCAGGAGAATCGCTTGAACCCGGGAGCGGAGGTTGCAGTGAGCCAAGATGCACCACTGCACTCCAGCCTGGGCAACGGAGAGACTCAAAAACCACTGAAGCCCCACGGCTCTGCACTTCATCTTGTATTCATGATTTTGTATTATTTTCCTTAAAGAAGAGCCCCTCAAGAGTAAAAGCTTATAAAAGCTAGACCCACGTTGTTTGTCACAGAAAACAAGGAATAGCCCTGTCCTTTGAGCCTTCAGAACAGACAGGGCCAAGGGGCCGGCTGCACCTCCAGGAAGGAGAAGCTGCCCCACTTCCCCCGTGAGGCAGTGAGTTCCCCAGGGCCAGGGATGTACAAGCAGAGGGTAGCTGAAAGGAGGCCATCTGCCCACACCGGAGGATCAGCCAGGAGACCTCTCAAATCCCCTCCATGGCCCCTGGGAGTCTCAAGACCCCGGATGGGGAAGAAATGGTCCCTGAAGAAGGACGTGGCCCTTTTGGAGAAGAAGCTAGGACTCTGCCCAGTCTGCCTGCTCAGACCTCGTGCCCGCCCTTGGACCCTGTGGAAGACCAGAGAGGGGATGCTGGGACCCTGAGGCTGGGGTAGAGAGCTGGGCACACTGCTGGAGACCCAGTCCTGACTGCCCAATTCACTGGCTGATCCTCTCTGGTTCTCAGTTTCCCCATCTGCTCACCCCGCAGGGCTATGGTGAGAATCATCAAAAGGAAATGAAATACCAGTCAATAAACCGCCGTGGACACTAACGTCCCGGCAACTTGACAGATGACTCTCCTCCTCCGCCCATGGGACTCTGTCCCCAGCACCTCCTGGACTGGCTGAGCCCCCTGCTCCTGAGGCTGGGGTATGCCTGGCTCAGCTCTGCATCCCCAGCATCCAACACAGGCCTGGCCCACAGGCCCTGATACCCACCCTAGGGTGGGGAGTCCTCCCCGGGCACCTCCAAGACTTTGCATGACCAGGATCCAGATGTGGGGGCGCTCTGGAGAAAATGGAATCTGACCAGCACAGGGGCAGGGGCACCAGTCAGACATGTTGAGTCCCAGGACAATGTCCAGGGGGTTGGGGGGAGCTGAGGACCCTGATCTGGCAGTGCCCCTCCCCACCTGTCAGCACCTAGAAGCTCAGACAGCTCCACAGAGGAGCCGTCACAACACTGACCACCCGGCTATCTGTCCAGCAAGCCAGGCGCCTTCGCAAAGCGGCAGTGAAAGGAGACTACACAGTGCCCTGTGGCCTAGGAGGTGCCAGGCTGGGAGTCTAGGGGACTGTGCTCCAGCCCAGCGACCCCATGGATGAGCTATGTGACTTCACGTCATCCCTCCCCACCTGGGAACTTAATTTCCCAGTAAAATTTCCCAGTAAAATGAAGTGTGCAGGCGAGGGCTCTGGCATCCTGAGGCTCAGTGGCTCCTCATTCCTGAGACTGCCTGCTGCGTGCACCCTGGGAATGGGATTCCTTATGTGCAGCAGGCTGTGTGGCCCCTGGTGCCTGCTTTGCAGGGGTGAGGGGAGGAGGGGTTAAGGCAGTCGATAGGAAACGCTTCCTATGCCAAAATTTCACACAGCCAGCTCTACCCTCTGTGGCCAGAGGGCGGGGGATCCCCAAACCCAAGCCCATGGGCCCAGCCCTTCTCCTTCCAGCCTGGGACCTCAGCACCTGCAGCCCCGCCCCTGCCTCCTCAAAGTGCTTATAGCCCTCCTCTACTCCTCCACTCTCTTTTTGCAAAGCCCTGAAGACAAACTCGGCCCCTTGAGGACACAGGTCTCAGCCCCGCCTGGCCCCATCCCCAGGGGCCGCCCTCACTGTGCAGAATGGCCAGGGCCAGGATGCCTCCAGTGCTGGTGCCCGCCACCCAGTCAAACAGGTCCTTGGTGGCCACACCCGAGGCCTTCTCGATGGCGATGAGGAGCTGGATGATGATGAGGCCTTTCACTCCTCCTCCATCCAGGCACAGCAGGTGGTCGTGGCTGCAGTGGGAACAGCAGTGGGAGAGAGGAGGGTCCTGCCACAGCCCAGTACTTTACATCCACCCTCATAGCCCTTGTCCCCTGCAGCTGTGTCCTGGCAGACAGACCCAGACGGACCCGAGGAACTTCTGTCCTATGCAGGACAGCGAGGGTGGGGGTGAGGGCAGTAAAGGAACAAATGTCTAGTATTTCAGGGGCTGGAGAGTGCAACAGAGAAAGGGAAAGGAAGGTCGGGGGATAGCATCACTGACCAGGCGCCATCCCAGCAGGATCTCGGCCAGTCTCCCCAACTTGGGACACCTGATTTTGGTCAGTATCAGGCCTGATCCAAAGCAGGTGCCTGATAAAGTCTGTTGGAATTAAATAAGGCTGGGGAAGGAGGGGCGGGGACCCTACAGCCAGGCCAGGAATGGGCAGTGACAGAGTATCAGGGCCTCCACACAAGGTGGAAGAAGCAGGGGAGGAGGGGGCAGGGAGGAAGGGAGAGGTTCATGCCAGGGGCTATGGGAGGGGTGCTACCAGCATTAGCTCATGTCATTGTCCCAAACGCCTCTGAGGCAGACCCTCCCTGACATCCCTGTGCTTATTTATTTAGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAACGCGATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATCACAGGTGCCCGCCACCACACCCAGCTAATTTTGTATTTTTAATAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCATGTGATCCGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCGTGCCCAGCCTTATTTATTTATTTATTTATTTATAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGTGTGTGGTGGTGCAATCACAGTTCACGGCAGCCTCAACCTTCTGAGCTCAAGTGATCCTCCCGAGTAGCTGGGACTACAGGCAGGAGCCACTGCGCCTACTCTCTGTGCATATTTTTGAGTGACGGAGGGAGTGTAGCTCAGAGGTTAGGTGACGGGAACCAAGTCATATGGATGCGGACTGGACCTGGACCCAGGTCTGCCGCCTCCTGAGTCACATGCTCTCCAGCGCGCCCTGACACGTCTCCCCACATCCTGCCTGTCCTCATTGGCCATGCCCTGGGGGAATGCCTTTGTGGTTGGTTCAGTCTGGAACCTTCCTCTGATCTTCTCATCTTCCCATCTCAGCTTGATGAAGCTGAGAGAAGCCTGCCCTGATGCCATCGAGACCCTCCCTCACAGCCCGCCTGCTGCTCCACCTGCTTCCTGGTGGAGGCTGCTTCCATTCCATTCGCAATCTTTCTTTTACTCTCTCCTGCGCTGACCTGGAAGCTCCACCAGGGCAGAAGCCGCCTCTGCTCTGGGCAGCGCTGTGTGTCAAGGGGATGCAGGAGGTGCCCAAGAGGGCTGATAAATGGAGGAGGCCCGGGTCCCACCTCTAGGGGTCTTTTCCTGGACCAGGTACCCAGCCCCACAGCAAGCCTAGAGGTGGCAGGGGAGAGACTACACTGTTGCTGGAGGCCAAAGCAAACTCCCGAAGATGCGGGGCTGGCGACAGAGATCAACCCAGAGGGCGCAGGGCTCTGTAGCTTGGAAGGCCCAAGTGGGGAGCTACCGAGGGGTCTCCTGACTCTTGCCTCAGCCCCGCTCCAGGCAGGGTTCTGAGGCTCCAGAATCTGGGGAATCTGCTTTTCCTCCCTTGGGAAATGTGGGTCCCCCCTTCAGGTGCAGCTGCCTCACCTCAGCCCCTGCACAGGTGTGTGTATGTACATGCATGTGTGTACATGTGTGTGCATGTGTGTGGGTGTCCATGTGCATGCATGCATGTGTATGTG
|
TCCTTCCGGCTGGACATGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTATTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGCAGGAGAATCGCTTGAACCCGGGAGCGGAGGTTGCAGTGAGCCAAGATGCACCACTGCACTCCAGCCTGGGCAACGGAGAGACTCAAAAACCACTGAAGCCCCACGGCTCTGCACTTCATCTTGTATTCATGATTTTGTATTATTTTCCTTAAAGAAGAGCCCCTCAAGAGTAAAAGCTTATAAAAGCTAGACCCACGTTGTTTGTCACAGAAAACAAGGAATAGCCCTGTCCTTTGAGCCTTCAGAACAGACAGGGCCAAGGGGCCGGCTGCACCTCCAGGAAGGAGAAGCTGCCCCACTTCCCCCGTGAGGCAGTGAGTTCCCCAGGGCCAGGGATGTACAAGCAGAGGGTAGCTGAAAGGAGGCCATCTGCCCACACCGGAGGATCAGCCAGGAGACCTCTCAAATCCCCTCCATGGCCCCTGGGAGTCTCAAGACCCCGGATGGGGAAGAAATGGTCCCTGAAGAAGGACGTGGCCCTTTTGGAGAAGAAGCTAGGACTCTGCCCAGTCTGCCTGCTCAGACCTCGTGCCCGCCCTTGGACCCTGTGGAAGACCAGAGAGGGGATGCTGGGACCCTGAGGCTGGGGTAGAGAGCTGGGCACACTGCTGGAGACCCAGTCCTGACTGCCCAATTCACTGGCTGATCCTCTCTGGTTCTCAGTTTCCCCATCTGCTCACCCCGCAGGGCTATGGTGAGAATCATCAAAAGGAAATGAAATACCAGTCAATAAACCGCCGTGGACACTAACGTCCCGGCAACTTGACAGATGACTCTCCTCCTCCGCCCATGGGACTCTGTCCCCAGCACCTCCTGGACTGGCTGAGCCCCCTGCTCCTGAGGCTGGGGTATGCCTGGCTCAGCTCTGCATCCCCAGCATCCAACACAGGCCTGGCCCACAGGCCCTGATACCCACCCTAGGGTGGGGAGTCCTCCCCGGGCACCTCCAAGACTTTGCATGACCAGGATCCAGATGTGGGGGCGCTCTGGAGAAAATGGAATCTGACCAGCACAGGGGCAGGGGCACCAGTCAGACATGTTGAGTCCCAGGACAATGTCCAGGGGGTTGGGGGGAGCTGAGGACCCTGATCTGGCAGTGCCCCTCCCCACCTGTCAGCACCTAGAAGCTCAGACAGCTCCACAGAGGAGCCGTCACAACACTGACCACCCGGCTATCTGTCCAGCAAGCCAGGCGCCTTCGCAAAGCGGCAGTGAAAGGAGACTACACAGTGCCCTGTGGCCTAGGAGGTGCCAGGCTGGGAGTCTAGGGGACTGTGCTCCAGCCCAGCGACCCCATGGATGAGCTATGTGACTTCACGTCATCCCTCCCCACCTGGGAACTTAATTTCCCAGTAAAATTTCCCAGTAAAATGAAGTGTGCAGGCGAGGGCTCTGGCATCCTGAGGCTCAGTGGCTCCTCATTCCTGAGACTGCCTGCTGCGTGCACCCTGGGAATGGGATTCCTTATGTGCAGCAGGCTGTGTGGCCCCTGGTGCCTGCTTTGCAGGGGTGAGGGGAGGAGGGGTTAAGGCAGTCGATAGGAAACGCTTCCTATGCCAAAATTTCACACAGCCAGCTCTACCCTCTGTGGCCAGAGGGCGGGGGATCCCCAAACCCAAGCCCATGGGCCCAGCCCTTCTCCTTCCAGCCTGGGACCTCAGCACCTGCAGCCCCGCCCCTGCCTCCTCAAAGTGCTTATAGCCCTCCTCTACTCCTCCACTCTCTTTTTGCAAAGCCCTGAAGACAAACTCGGCCCCTTGAGGACACAGGTCTCAGCCCCGCCTGGCCCCATCCCCAGGGGCCGCCCTCACTGTGCAGAATGGCCAGGGCCAGGATGCCTCCAGTGCTGGTGCCCGCGCCACCCAGTCAAACAGGTCCTTGGTGGCCACACCCGAGGCCTTCTCGATGGCGATGAGGAGCTGGATGATGATGAGGCCTTTCACTCCTCCTCCATCCAGGCACAGCAGGTGGTCGTGGCTGCAGTGGGAACAGCAGTGGGAGAGAGGAGGGTCCTGCCACAGCCCAGTACTTTACATCCACCCTCATAGCCCTTGTCCCCTGCAGCTGTGTCCTGGCAGACAGACCCAGACGGACCCGAGGAACTTCTGTCCTATGCAGGACAGCGAGGGTGGGGGTGAGGGCAGTAAAGGAACAAATGTCTAGTATTTCAGGGGCTGGAGAGTGCAACAGAGAAAGGGAAAGGAAGGTCGGGGGATAGCATCACTGACCAGGCGCCATCCCAGCAGGATCTCGGCCAGTCTCCCCAACTTGGGACACCTGATTTTGGTCAGTATCAGGCCTGATCCAAAGCAGGTGCCTGATAAAGTCTGTTGGAATTAAATAAGGCTGGGGAAGGAGGGGCGGGGACCCTACAGCCAGGCCAGGAATGGGCAGTGACAGAGTATCAGGGCCTCCACACAAGGTGGAAGAAGCAGGGGAGGAGGGGGCAGGGAGGAAGGGAGAGGTTCATGCCAGGGGCTATGGGAGGGGTGCTACCAGCATTAGCTCATGTCATTGTCCCAAACGCCTCTGAGGCAGACCCTCCCTGACATCCCTGTGCTTATTTATTTAGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAACGCGATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAACGATTCTCCTGCCTCAACCTCCCGAGTAGCTGGGATCACAGGTGCCCGCCACCACACCCAGCTAATTTTGTATTTTTAATAGAGACGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCATGTGATCCGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCGTGCCCAGCCTTATTTATTTATTTATTTATTTATAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGTGTGTGGTGGTGCAATCACAGTTCACGGCAGCCTCAACCTTCTGAGCTCAAGTGATCCTCCCGAGTAGCTGGGACTACAGGCAGGAGCCACTGCGCCTACTCTCTGTGCATATTTTTGAGTGACGGAGGGAGTGTAGCTCAGAGGTTAGGTGACGGGAACCAAGTCATATGGATGCGGACTGGACCTGGACCCAGGTCTGCCGCCTCCTGAGTCACATGCTCTCCAGCGCGCCCTGACACGTCTCCCCACATCCTGCCTGTCCTCATTGGCCATGCCCTGGGGGAATGCCTTTGTGGTTGGTTCAGTCTGGAACCTTCCTCTGATCTTCTCATCTTCCCATCTCAGCTTGATGAAGCTGAGAGAAGCCTGCCCTGATGCCATCGAGACCCTCCCTCACAGCCCGCCTGCTGCTCCACCTGCTTCCTGGTGGAGGCTGCTTCCATTCCATTCGCAATCTTTCTTTTACTCTCTCCTGCGCTGACCTGGAAGCTCCACCAGGGCAGAAGCCGCCTCTGCTCTGGGCAGCGCTGTGTGTCAAGGGGATGCAGGAGGTGCCCAAGAGGGCTGATAAATGGAGGAGGCCCGGGTCCCACCTCTAGGGGTCTTTTCCTGGACCAGGTACCCAGCCCCACAGCAAGCCTAGAGGTGGCAGGGGAGAGACTACACTGTTGCTGGAGGCCAAAGCAAACTCCCGAAGATGCGGGGCTGGCGACAGAGATCAACCCAGAGGGCGCAGGGCTCTGTAGCTTGGAAGGCCCAAGTGGGGAGCTACCGAGGGGTCTCCTGACTCTTGCCTCAGCCCCGCTCCAGGCAGGGTTCTGAGGCTCCAGAATCTGGGGAATCTGCTTTTCCTCCCTTGGGAAATGTGGGTCCCCCCTTCAGGTGCAGCTGCCTCACCTCAGCCCCTGCACAGGTGTGTGTATGTACATGCATGTGTGTACATGTGTGTGCATGTGTGTGGGTGTCCATGTGCATGCATGCATGTGTATG
|
pathogenic
| 327,043 |
Regarding the variant at chromosome 22 and position 38126446, affecting gene PLA2G6 (phospholipase A2 group VI): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Infantile_neuroaxonal_dystrophy', 'Iron_accumulation_in_brain', 'PLA2G6-associated_neurodegeneration']
|
CCTGAGTCACATGCTCTCCAGCGCGCCCTGACACGTCTCCCCACATCCTGCCTGTCCTCATTGGCCATGCCCTGGGGGAATGCCTTTGTGGTTGGTTCAGTCTGGAACCTTCCTCTGATCTTCTCATCTTCCCATCTCAGCTTGATGAAGCTGAGAGAAGCCTGCCCTGATGCCATCGAGACCCTCCCTCACAGCCCGCCTGCTGCTCCACCTGCTTCCTGGTGGAGGCTGCTTCCATTCCATTCGCAATCTTTCTTTTACTCTCTCCTGCGCTGACCTGGAAGCTCCACCAGGGCAGAAGCCGCCTCTGCTCTGGGCAGCGCTGTGTGTCAAGGGGATGCAGGAGGTGCCCAAGAGGGCTGATAAATGGAGGAGGCCCGGGTCCCACCTCTAGGGGTCTTTTCCTGGACCAGGTACCCAGCCCCACAGCAAGCCTAGAGGTGGCAGGGGAGAGACTACACTGTTGCTGGAGGCCAAAGCAAACTCCCGAAGATGCGGGGCTGGCGACAGAGATCAACCCAGAGGGCGCAGGGCTCTGTAGCTTGGAAGGCCCAAGTGGGGAGCTACCGAGGGGTCTCCTGACTCTTGCCTCAGCCCCGCTCCAGGCAGGGTTCTGAGGCTCCAGAATCTGGGGAATCTGCTTTTCCTCCCTTGGGAAATGTGGGTCCCCCCTTCAGGTGCAGCTGCCTCACCTCAGCCCCTGCACAGGTGTGTGTATGTACATGCATGTGTGTACATGTGTGTGCATGTGTGTGGGTGTCCATGTGCATGCATGCATGTGTATGTGTGCGCATGTGTATGTGTGTGCATGCACGTGTGTTTGCATGTGTGCATGTGTGTGCGTGTCCATGTGTTTGCATGTGGGCAACACATGCATGTGGGCAACCCGCAGGCATGTGCATGTGGGTGTGTGTGCGTGCATGTGTGCGTGTGTGTGTGCGTGTGCCCGCGTGCAAGAGCATGCAGGGGGCACAGGGGAGGGAATGCTGATGGGGCAGGGGAACCTCCAGGGCACACAACAGGGTAGCATGGAAGTGAGTGCGAAGTGAGAGGACCCACAGAGCTGCACGATCACTGCCTGGCCCTGGGAGTGGAGCTGCCTCTGATTCTGAGAAGAGAGCTTTCCCTGCAGAGGGCTGGCACTAGGTATAGAGTCCACAGAGAACCCAGAGAGAGCCTGCGGTAGCACAAAGGACGTGGGTTCGGAAGACCCGGCTGTGAGTTGCCACCCTGACACTCACTCCGTGTGACCTTGAGCAAGTCACTTCACCTCTCAGGGGCTCAGGTTCTGCATCTGTAAAACAAGGTTACAAATTCCTCCCTGGGAAGGCTATTAGGAACATGAGAGACTAATAAAGAATAAATGAATCAACTGCAGCAATCAAGGGAGGTGGCGACAGCACAGTGGCTGGAAACGCATTTGTCCTGGTACCTTGCCGTGCCAGCTGGCACTGAGTTCAAGCACCCGGGATTATGCCTGAAGGGCAAGGCCTGGGCGTCTTCTCTTTGCATCCTGTCACCCAGGCCCGCCTCTTACAATGGGACTAGGTATACAGCAGGTGCTGGGGAAGGCAGCCCACGCCACTATTCTGCAGTGGGAGGTGGTTAAGGAAGCCAGTAGGAGCAGTGGGAAGCAGCTGCTGAGATCTCCCCAGGGGGGACCCAGGCATCTCCCCCTCTTCTAGCCATAAGGAGATCAGGGAGGGAGGCCAGAACACTGCGCCAGCCCCACCAAGTCCAAGAAGCCTGGCACCCTGGGCTGGTCTCCAGAGCCTGCACCGCCCAGCATTAATGAACGAGCGACACAGGCTCTCCATGTTCTGTCTCTGCTGAGAACTATAAGACTAGGAGCAGAGCCACTTCGCCGGCTGTGAGGGTGCAGAGAGTAAAGCCCTGAGCCCACAACAGGGGGTGGGTGAGGGGCAGGAAAGCGCACACGTTCCCCGCTCTGCCCCCGATCTCGATCCACTTACGTCCGCTTCTCGTCCCTCATGGAGCCCAGGATGAACGCTGGCTTCCGGGCCCGTGAGATGTGCATGAGATCCTGTAGTTCTGTGAGGCACAGAGCAGGGCATGCTGTGGTCAGGTGGGTCCCCAAGCCCTGCTACCCCAGAGGTCCCTAGATCAAACCTGGGCTGTGCCTCGCCCACGGCCACGCCCTCATCCCCCCACTCCCCCTGTCATCTGTCCCTTCCCCACAGGAAGGACTCTGTCCCAGGAGAAAGCTGAGCCACAGGCCACAGGAGAGAAATGGGCTGGAGTGGAAAGGGGGGCCCACTGCTCTGGGAAGGGCTCCCCACCCTGCCCAGCCAGCTCCCAGGTTCCCCTCAATCTCTTCCTCTTGAAACCCCAAGGCATGAATACCCTTGCGTGTCCTCTTCAGACAAAGTGCTTCTTCTTGCATCGGAGCCGATGCTGCAATAACCACCTGGGGCCTAAGAATTCTTATTCCCTATTGACAGGTGAGGCTCTAAGAGGGTCCATAATTCACCCAAGGTCATTTAGTCAAAAGGCTGAGTCAGGACGTTCCTCGGGGTTTAAGTCCATGGATGAAAGGAGACATCCCTCGTCCTGATCCCAGGTCTGGAAATCCCAGTGGCCTCCGGGATCAGGCCCACCATCCACTCTGTCCATGTCTTCCTTTGTGTCCAAGGCCTGCCTGACGTCCACCCAACTGACTAGCTGCCCCTCCTGACAAGCAGCCCAGTCCCCAGGTGCCTGGTGCAGCAGCCCGCGTGACCCCAACTCTGACAGCCCCCCACCACTGTGCAGAGTCTAGAAGCAGCAAAGCAGAACCGAGGGCTGCGAAGCGGTGTCTCCCCCTCCCCAGGGCACACGGCTCCACAGTGAACAAGGGAAGCAGAAGAGTGGCTGAGAGAGGCCGGGGACAGGGTGCAGGGGAGGGGGCGTGTGGTGTGTGCGCAGCTAAGAAGGACGGATTAGGGAGTGAGAGCTAGAGCTAATGCCGCATGGCTAGGCTCGGTGGCCTCTCCAGGCCCAGGGCGTTACCCATCTGACGCCGCACCCCAGGCCCACCATCCGGCCTGGCTTGGGTGACTGCCTGCAAAATTGAGAGATAAAGATGGGAGGTGGAGGGGGAGTTCCTGGGAGGGGAGAGAGAGGTGGAGCCAGGACTAGAAGCCACAGTCACGGTGCCTCTCCAGAGTTCCAGGCTTGGTCGGGCTACCCTGGCTGAAGGTGCTGCCGCCTCCACAGTGAAGTCTGGCTCACCAAGGACTGGCTCCTGGCTGCCCTCTGTTCAGGGGACCCCGCTCCCAAACAATGGAGGTCCCTGAGTGGGCCAGCCCACAGAAAGTCCAGAGAAGGGTCCTGTCTAGTCTGGGGATGTCTCCCTGGGCACCAAGGAATGCACCGGGGCAGATGCTGGCTGCCTGGCCACATTCAACGTCTGAAAGTCACCACGGGGCCAGGAAGGGGGCACACAGGTCTCAGGCCCAACCGAGATTCAAACAGTGTGATAGAGGTGAAGCCAGAGGGACAGGTGAAGCCAGAGGGCCCGGGCCCCCAGTCCCCCGACAGCACTCCTCACTGCCCACCCTGAACGCCCTGGGGACAGGAGGGCAGTAACAGCAGCCACCTCATGGGTGCCACTGGAAATGCCCAGGCCTGAGACTGTGTGCAGGACACATCCTCTCAGGGGCAACGGAGCATGGGACATCAGCCAGGGACACCCTAGGCCTCTGGGATCTGTGGGTTGCTGGCTGCCTAGAGGCTGACAACTCCGGCCCCATCCTCCCCGGCTTCCTTTAGTGACTTCCGTCCTAGGGATCCTGTTGCTTTGGTGGGGCCTGCTGTGATCCAGGGGCCTGGGAACCAGCTGGAGAAGAGGGAGTCGGGAGGCGAGGCCTACCTAGGTTGTTTAGGCTGATCGGTGGGGGCTGAGCTCTTTCCAGGGAGAAGGGATGATGTGGCGCTGCAGAGCCCTGCTCCGCGGGGACCCCGTGGATGGGTGGGAAGCAGTATTCGGCCCCCACGGTTCTCAGCAGAGTCAAGATCGCCTTCCTGGTGACAACTTGTCATGGTTTGGGGAAGGGGAGATGGCACAGGATCAGAAATGATGTCAACATGCAAAGGA
|
CCTGAGTCACATGCTCTCCAGCGCGCCCTGACACGTCTCCCCACATCCTGCCTGTCCTCATTGGCCATGCCCTGGGGGAATGCCTTTGTGGTTGGTTCAGTCTGGAACCTTCCTCTGATCTTCTCATCTTCCCATCTCAGCTTGATGAAGCTGAGAGAAGCCTGCCCTGATGCCATCGAGACCCTCCCTCACAGCCCGCCTGCTGCTCCACCTGCTTCCTGGTGGAGGCTGCTTCCATTCCATTCGCAATCTTTCTTTTACTCTCTCCTGCGCTGACCTGGAAGCTCCACCAGGGCAGAAGCCGCCTCTGCTCTGGGCAGCGCTGTGTGTCAAGGGGATGCAGGAGGTGCCCAAGAGGGCTGATAAATGGAGGAGGCCCGGGTCCCACCTCTAGGGGTCTTTTCCTGGACCAGGTACCCAGCCCCACAGCAAGCCTAGAGGTGGCAGGGGAGAGACTACACTGTTGCTGGAGGCCAAAGCAAACTCCCGAAGATGCGGGGCTGGCGACAGAGATCAACCCAGAGGGCGCAGGGCTCTGTAGCTTGGAAGGCCCAAGTGGGGAGCTACCGAGGGGTCTCCTGACTCTTGCCTCAGCCCCGCTCCAGGCAGGGTTCTGAGGCTCCAGAATCTGGGGAATCTGCTTTTCCTCCCTTGGGAAATGTGGGTCCCCCCTTCAGGTGCAGCTGCCTCACCTCAGCCCCTGCACAGGTGTGTGTATGTACATGCATGTGTGTACATGTGTGTGCATGTGTGTGGGTGTCCATGTGCATGCATGCATGTGTATGTGTGCGCATGTGTATGTGTGTGCATGCACGTGTGTTTGCATGTGTGCATGTGTGTGCGTGTCCATGTGTTTGCATGTGGGCAACACATGCATGTGGGCAACCCGCAGGCATGTGCATGTGGGTGTGTGTGCGTGCATGTGTGCGTGTGTGTGTGCGTGTGCCCGCGTGCAAGAGCATGCAGGGGGCACAGGGGAGGGAATGCTGATGGGGCAGGGGAACCTCCAGGGCACACAACAGGGTAGCATGGAAGTGAGTGCGAAGTGAGAGGACCCACAGAGCTGCACGATCACTGCCTGGCCCTGGGAGTGGAGCTGCCTCTGATTCTGAGAAGAGAGCTTTCCCTGCAGAGGGCTGGCACTAGGTATAGAGTCCACAGAGAACCCAGAGAGAGCCTGCGGTAGCACAAAGGACGTGGGTTCGGAAGACCCGGCTGTGAGTTGCCACCCTGACACTCACTCCGTGTGACCTTGAGCAAGTCACTTCACCTCTCAGGGGCTCAGGTTCTGCATCTGTAAAACAAGGTTACAAATTCCTCCCTGGGAAGGCTATTAGGAACATGAGAGACTAATAAAGAATAAATGAATCAACTGCAGCAATCAAGGGAGGTGGCGACAGCACAGTGGCTGGAAACGCATTTGTCCTGGTACCTTGCCGTGCCAGCTGGCACTGAGTTCAAGCACCCGGGATTATGCCTGAAGGGCAAGGCCTGGGCGTCTTCTCTTTGCATCCTGTCACCCAGGCCCGCCTCTTACAATGGGACTAGGTATACAGCAGGTGCTGGGGAAGGCAGCCCACGCCACTATTCTGCAGTGGGAGGTGGTTAAGGAAGCCAGTAGGAGCAGTGGGAAGCAGCTGCTGAGATCTCCCCAGGGGGGACCCAGGCATCTCCCCCTCTTCTAGCCATAAGGAGATCAGGGAGGGAGGCCAGAACACTGCGCCAGCCCCACCAAGTCCAAGAAGCCTGGCACCCTGGGCTGGTCTCCAGAGCCTGCACCGCCCAGCATTAATGAACGAGCGACACAGGCTCTCCATGTTCTGTCTCTGCTGAGAACTATAAGACTAGGAGCAGAGCCACTTCGCCGGCTGTGAGGGTGCAGAGAGTAAAGCCCTGAGCCCACAACAGGGGGTGGGTGAGGGGCAGGAAAGCGCACACGTTCCCCGCTCTGCCCCCGATCTCGATCCACTTACGTCCGCTTCTCGTCCCTCATGGAGCCCAGGATGAACGCTGGCTTCCGGGCCCGTGAGATGTGCATGAGATCCTGTATTCTGTGAGGCACAGAGCAGGGCATGCTGTGGTCAGGTGGGTCCCCAAGCCCTGCTACCCCAGAGGTCCCTAGATCAAACCTGGGCTGTGCCTCGCCCACGGCCACGCCCTCATCCCCCCACTCCCCCTGTCATCTGTCCCTTCCCCACAGGAAGGACTCTGTCCCAGGAGAAAGCTGAGCCACAGGCCACAGGAGAGAAATGGGCTGGAGTGGAAAGGGGGGCCCACTGCTCTGGGAAGGGCTCCCCACCCTGCCCAGCCAGCTCCCAGGTTCCCCTCAATCTCTTCCTCTTGAAACCCCAAGGCATGAATACCCTTGCGTGTCCTCTTCAGACAAAGTGCTTCTTCTTGCATCGGAGCCGATGCTGCAATAACCACCTGGGGCCTAAGAATTCTTATTCCCTATTGACAGGTGAGGCTCTAAGAGGGTCCATAATTCACCCAAGGTCATTTAGTCAAAAGGCTGAGTCAGGACGTTCCTCGGGGTTTAAGTCCATGGATGAAAGGAGACATCCCTCGTCCTGATCCCAGGTCTGGAAATCCCAGTGGCCTCCGGGATCAGGCCCACCATCCACTCTGTCCATGTCTTCCTTTGTGTCCAAGGCCTGCCTGACGTCCACCCAACTGACTAGCTGCCCCTCCTGACAAGCAGCCCAGTCCCCAGGTGCCTGGTGCAGCAGCCCGCGTGACCCCAACTCTGACAGCCCCCCACCACTGTGCAGAGTCTAGAAGCAGCAAAGCAGAACCGAGGGCTGCGAAGCGGTGTCTCCCCCTCCCCAGGGCACACGGCTCCACAGTGAACAAGGGAAGCAGAAGAGTGGCTGAGAGAGGCCGGGGACAGGGTGCAGGGGAGGGGGCGTGTGGTGTGTGCGCAGCTAAGAAGGACGGATTAGGGAGTGAGAGCTAGAGCTAATGCCGCATGGCTAGGCTCGGTGGCCTCTCCAGGCCCAGGGCGTTACCCATCTGACGCCGCACCCCAGGCCCACCATCCGGCCTGGCTTGGGTGACTGCCTGCAAAATTGAGAGATAAAGATGGGAGGTGGAGGGGGAGTTCCTGGGAGGGGAGAGAGAGGTGGAGCCAGGACTAGAAGCCACAGTCACGGTGCCTCTCCAGAGTTCCAGGCTTGGTCGGGCTACCCTGGCTGAAGGTGCTGCCGCCTCCACAGTGAAGTCTGGCTCACCAAGGACTGGCTCCTGGCTGCCCTCTGTTCAGGGGACCCCGCTCCCAAACAATGGAGGTCCCTGAGTGGGCCAGCCCACAGAAAGTCCAGAGAAGGGTCCTGTCTAGTCTGGGGATGTCTCCCTGGGCACCAAGGAATGCACCGGGGCAGATGCTGGCTGCCTGGCCACATTCAACGTCTGAAAGTCACCACGGGGCCAGGAAGGGGGCACACAGGTCTCAGGCCCAACCGAGATTCAAACAGTGTGATAGAGGTGAAGCCAGAGGGACAGGTGAAGCCAGAGGGCCCGGGCCCCCAGTCCCCCGACAGCACTCCTCACTGCCCACCCTGAACGCCCTGGGGACAGGAGGGCAGTAACAGCAGCCACCTCATGGGTGCCACTGGAAATGCCCAGGCCTGAGACTGTGTGCAGGACACATCCTCTCAGGGGCAACGGAGCATGGGACATCAGCCAGGGACACCCTAGGCCTCTGGGATCTGTGGGTTGCTGGCTGCCTAGAGGCTGACAACTCCGGCCCCATCCTCCCCGGCTTCCTTTAGTGACTTCCGTCCTAGGGATCCTGTTGCTTTGGTGGGGCCTGCTGTGATCCAGGGGCCTGGGAACCAGCTGGAGAAGAGGGAGTCGGGAGGCGAGGCCTACCTAGGTTGTTTAGGCTGATCGGTGGGGGCTGAGCTCTTTCCAGGGAGAAGGGATGATGTGGCGCTGCAGAGCCCTGCTCCGCGGGGACCCCGTGGATGGGTGGGAAGCAGTATTCGGCCCCCACGGTTCTCAGCAGAGTCAAGATCGCCTTCCTGGTGACAACTTGTCATGGTTTGGGGAAGGGGAGATGGCACAGGATCAGAAATGATGTCAACATGCAAAGGAN
|
pathogenic
| 327,053 |
Regarding the variant at chromosome 22 and position 38128354, affecting gene PLA2G6 (phospholipase A2 group VI): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Infantile_neuroaxonal_dystrophy', 'Neurodegeneration_with_brain_iron_accumulation']
|
GGGGTGGGTGAGGGGCAGGAAAGCGCACACGTTCCCCGCTCTGCCCCCGATCTCGATCCACTTACGTCCGCTTCTCGTCCCTCATGGAGCCCAGGATGAACGCTGGCTTCCGGGCCCGTGAGATGTGCATGAGATCCTGTAGTTCTGTGAGGCACAGAGCAGGGCATGCTGTGGTCAGGTGGGTCCCCAAGCCCTGCTACCCCAGAGGTCCCTAGATCAAACCTGGGCTGTGCCTCGCCCACGGCCACGCCCTCATCCCCCCACTCCCCCTGTCATCTGTCCCTTCCCCACAGGAAGGACTCTGTCCCAGGAGAAAGCTGAGCCACAGGCCACAGGAGAGAAATGGGCTGGAGTGGAAAGGGGGGCCCACTGCTCTGGGAAGGGCTCCCCACCCTGCCCAGCCAGCTCCCAGGTTCCCCTCAATCTCTTCCTCTTGAAACCCCAAGGCATGAATACCCTTGCGTGTCCTCTTCAGACAAAGTGCTTCTTCTTGCATCGGAGCCGATGCTGCAATAACCACCTGGGGCCTAAGAATTCTTATTCCCTATTGACAGGTGAGGCTCTAAGAGGGTCCATAATTCACCCAAGGTCATTTAGTCAAAAGGCTGAGTCAGGACGTTCCTCGGGGTTTAAGTCCATGGATGAAAGGAGACATCCCTCGTCCTGATCCCAGGTCTGGAAATCCCAGTGGCCTCCGGGATCAGGCCCACCATCCACTCTGTCCATGTCTTCCTTTGTGTCCAAGGCCTGCCTGACGTCCACCCAACTGACTAGCTGCCCCTCCTGACAAGCAGCCCAGTCCCCAGGTGCCTGGTGCAGCAGCCCGCGTGACCCCAACTCTGACAGCCCCCCACCACTGTGCAGAGTCTAGAAGCAGCAAAGCAGAACCGAGGGCTGCGAAGCGGTGTCTCCCCCTCCCCAGGGCACACGGCTCCACAGTGAACAAGGGAAGCAGAAGAGTGGCTGAGAGAGGCCGGGGACAGGGTGCAGGGGAGGGGGCGTGTGGTGTGTGCGCAGCTAAGAAGGACGGATTAGGGAGTGAGAGCTAGAGCTAATGCCGCATGGCTAGGCTCGGTGGCCTCTCCAGGCCCAGGGCGTTACCCATCTGACGCCGCACCCCAGGCCCACCATCCGGCCTGGCTTGGGTGACTGCCTGCAAAATTGAGAGATAAAGATGGGAGGTGGAGGGGGAGTTCCTGGGAGGGGAGAGAGAGGTGGAGCCAGGACTAGAAGCCACAGTCACGGTGCCTCTCCAGAGTTCCAGGCTTGGTCGGGCTACCCTGGCTGAAGGTGCTGCCGCCTCCACAGTGAAGTCTGGCTCACCAAGGACTGGCTCCTGGCTGCCCTCTGTTCAGGGGACCCCGCTCCCAAACAATGGAGGTCCCTGAGTGGGCCAGCCCACAGAAAGTCCAGAGAAGGGTCCTGTCTAGTCTGGGGATGTCTCCCTGGGCACCAAGGAATGCACCGGGGCAGATGCTGGCTGCCTGGCCACATTCAACGTCTGAAAGTCACCACGGGGCCAGGAAGGGGGCACACAGGTCTCAGGCCCAACCGAGATTCAAACAGTGTGATAGAGGTGAAGCCAGAGGGACAGGTGAAGCCAGAGGGCCCGGGCCCCCAGTCCCCCGACAGCACTCCTCACTGCCCACCCTGAACGCCCTGGGGACAGGAGGGCAGTAACAGCAGCCACCTCATGGGTGCCACTGGAAATGCCCAGGCCTGAGACTGTGTGCAGGACACATCCTCTCAGGGGCAACGGAGCATGGGACATCAGCCAGGGACACCCTAGGCCTCTGGGATCTGTGGGTTGCTGGCTGCCTAGAGGCTGACAACTCCGGCCCCATCCTCCCCGGCTTCCTTTAGTGACTTCCGTCCTAGGGATCCTGTTGCTTTGGTGGGGCCTGCTGTGATCCAGGGGCCTGGGAACCAGCTGGAGAAGAGGGAGTCGGGAGGCGAGGCCTACCTAGGTTGTTTAGGCTGATCGGTGGGGGCTGAGCTCTTTCCAGGGAGAAGGGATGATGTGGCGCTGCAGAGCCCTGCTCCGCGGGGACCCCGTGGATGGGTGGGAAGCAGTATTCGGCCCCCACGGTTCTCAGCAGAGTCAAGATCGCCTTCCTGGTGACAACTTGTCATGGTTTGGGGAAGGGGAGATGGCACAGGATCAGAAATGATGTCAACATGCAAAGGAGAGGCCCCTCCTTTCCACACTCCGTCCCCTGTCCCAGCTCCCAGGCCCTGGGCACGTGGGCTGCTCCAGAGGCCTCAGCCCACCCTGACAGGGAGTGCTGCCCCCAGGCTGGTACATCCCAAGCAGCTTCCTAAGGCCAGGGAAGGAGGATATGGGAGGAGGAGGTCAGTGTCACCCTGCCCGATGCCTGTGGGAACCCCTTCTTTCCTTCTACTCCAGCCAAGAAAGCAGGAATCCCATGGCCACATTCAGTGATTCTCAAAAATGCTAAGTGATAGTTCAGGGTTCCAAAGGGACTAATGAGCCAGCCAGGGGGCACCTACTCCATTTGATGGATGGGATTGCTGAAAAGGAGGTCATAGATGCGGTGCATGCAGACACACACGTGTGCACTGGCACACACACACTGCTGCCATCAGGTACCTGCCCACAGTGACCCCCACAGCTGCTGAAACCCTCCAGAGCGGGCTCCAGGCCTCTGGTGAGGAGGATCTGCTCTGTCCAGCTCTGAAGCTAAGGCTCACTGTGCGAGCGTGCAGCACATGGCCATGCACTCTGCCCACACAGGCATGCCCAGAGCTCGTGCAGTGTAGTGCATGCACCCTTGGTCATTCTAGCCAGTGGTTCCATCAGTGAATTCCCCAACGGTGGGGAAAGAAGGCTGCTGCTGGCTCTCCTGTCCCCACCCCTGCTGGGAATCTTAGCTCCCTGAGGTGGGGGGCGCTGCACGGGAGAGGATGCTGGTATAGCAAGCCCCGTGGTGGGCCTGCATCTACTGCTCAGGGCCCTTGTGCTTGGGTAAGGAAGCCCCCTCTCTGAGTACGAGGTGCTCCTGGCAGCTCTGAGCAGGGCGGGTCAGCACAGGATGCTGGCACCTGATGCCTGGGACTTCCCTCCTCCTCGGTCCCTGTATCCACCCAACCCTCACCCCACTCCAGCCCCAGAGTGCAGAGCACATACGTCTGCCGATTTTGGAGGCTAGGAATGTAGGAGTCTCCCCAAAGTCATTCGGGGTGTCCACTTCTGCTCCGAACACGATGAGGGCCTTGATCATCTCCACGTTGTCTTTCTGTTGGAGATGGAGAGAGGATAAGACGTGCAACTGCCGGGGAAGTGAAGAACAAAGGGGCCCCTGGCTGCCAGCCCCAACCTGTCAACTCACCCAGCGGGCCTCTCCTCAGCACGGGGAGACACTGGAACCCTCCTCACCCCCACCCAAGTCAATCTGGTAGTCCAAAGTCTGCCATTTGATGGCTGGGGACCTGACAAACAGGCTTAAAAGCACCCACAGGGGAGGGTGTAAGAACCCAGGCAGAAACTAGAAGTGACTCGCCCCTGCTCTGCCAGCTCCGCCTCCAAAGATGCAGTGCATCTGTGACCCCGACCCAGGAGCCATGGGGACACAGTAGGTCAGCTGCTGATGGCTTTCAGGAGTAGCAAGGAGAGGGTGGGTGAGGGCAGGGAAGGCCATCTTGCCCACCCAGTCCAGGGTGTCATCCCTGAGGGGTAACCGAACACACGTGCCCCTAATGGCAGCCTTCGGGGGAGTGTCCCCACGAAGAACGTCACACATTTCCACACCTGGAGGCCGGGCAGGGGCGCAGAGCATGGCATGGTTTCAGAGGACACACTGGCCACCTGGAACTGTGGGCTCTGGCCTTGTCACCTTCCTCTTCTTGGGACCCGATTTCCCTGCCTAGAGAATGAAGCTGTGGGTCTAGAATGGGGTTTTCCAAACAGTTCTTCACATTCTATTAGGACTTCTATGGCTACAGATATGTGTGTGTTTTCAGCATTAACTGTGATTTTTTGTTGTTGTTACTGTTTTGTTTTGTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCT
|
GGGGTGGGTGAGGGGCAGGAAAGCGCACACGTTCCCCGCTCTGCCCCCGATCTCGATCCACTTACGTCCGCTTCTCGTCCCTCATGGAGCCCAGGATGAACGCTGGCTTCCGGGCCCGTGAGATGTGCATGAGATCCTGTAGTTCTGTGAGGCACAGAGCAGGGCATGCTGTGGTCAGGTGGGTCCCCAAGCCCTGCTACCCCAGAGGTCCCTAGATCAAACCTGGGCTGTGCCTCGCCCACGGCCACGCCCTCATCCCCCCACTCCCCCTGTCATCTGTCCCTTCCCCACAGGAAGGACTCTGTCCCAGGAGAAAGCTGAGCCACAGGCCACAGGAGAGAAATGGGCTGGAGTGGAAAGGGGGGCCCACTGCTCTGGGAAGGGCTCCCCACCCTGCCCAGCCAGCTCCCAGGTTCCCCTCAATCTCTTCCTCTTGAAACCCCAAGGCATGAATACCCTTGCGTGTCCTCTTCAGACAAAGTGCTTCTTCTTGCATCGGAGCCGATGCTGCAATAACCACCTGGGGCCTAAGAATTCTTATTCCCTATTGACAGGTGAGGCTCTAAGAGGGTCCATAATTCACCCAAGGTCATTTAGTCAAAAGGCTGAGTCAGGACGTTCCTCGGGGTTTAAGTCCATGGATGAAAGGAGACATCCCTCGTCCTGATCCCAGGTCTGGAAATCCCAGTGGCCTCCGGGATCAGGCCCACCATCCACTCTGTCCATGTCTTCCTTTGTGTCCAAGGCCTGCCTGACGTCCACCCAACTGACTAGCTGCCCCTCCTGACAAGCAGCCCAGTCCCCAGGTGCCTGGTGCAGCAGCCCGCGTGACCCCAACTCTGACAGCCCCCCACCACTGTGCAGAGTCTAGAAGCAGCAAAGCAGAACCGAGGGCTGCGAAGCGGTGTCTCCCCCTCCCCAGGGCACACGGCTCCACAGTGAACAAGGGAAGCAGAAGAGTGGCTGAGAGAGGCCGGGGACAGGGTGCAGGGGAGGGGGCGTGTGGTGTGTGCGCAGCTAAGAAGGACGGATTAGGGAGTGAGAGCTAGAGCTAATGCCGCATGGCTAGGCTCGGTGGCCTCTCCAGGCCCAGGGCGTTACCCATCTGACGCCGCACCCCAGGCCCACCATCCGGCCTGGCTTGGGTGACTGCCTGCAAAATTGAGAGATAAAGATGGGAGGTGGAGGGGGAGTTCCTGGGAGGGGAGAGAGAGGTGGAGCCAGGACTAGAAGCCACAGTCACGGTGCCTCTCCAGAGTTCCAGGCTTGGTCGGGCTACCCTGGCTGAAGGTGCTGCCGCCTCCACAGTGAAGTCTGGCTCACCAAGGACTGGCTCCTGGCTGCCCTCTGTTCAGGGGACCCCGCTCCCAAACAATGGAGGTCCCTGAGTGGGCCAGCCCACAGAAAGTCCAGAGAAGGGTCCTGTCTAGTCTGGGGATGTCTCCCTGGGCACCAAGGAATGCACCGGGGCAGATGCTGGCTGCCTGGCCACATTCAACGTCTGAAAGTCACCACGGGGCCAGGAAGGGGGCACACAGGTCTCAGGCCCAACCGAGATTCAAACAGTGTGATAGAGGTGAAGCCAGAGGGACAGGTGAAGCCAGAGGGCCCGGGCCCCCAGTCCCCCGACAGCACTCCTCACTGCCCACCCTGAACGCCCTGGGGACAGGAGGGCAGTAACAGCAGCCACCTCATGGGTGCCACTGGAAATGCCCAGGCCTGAGACTGTGTGCAGGACACATCCTCTCAGGGGCAACGGAGCATGGGACATCAGCCAGGGACACCCTAGGCCTCTGGGATCTGTGGGTTGCTGGCTGCCTAGAGGCTGACAACTCCGGCCCCATCCTCCCCGGCTTCCTTTAGTGACTTCCGTCCTAGGGATCCTGTTGCTTTGGTGGGGCCTGCTGTGATCCAGGGGCCTGGGAACCAGCTGGAGAAGAGGGAGTCGGGAGGCGAGGCCTACCTAGGTTGTTTAGGCTGATCGGTGGGGGCTGAGCTCTTTCCAGGGAGAAGGGATGATGTGGCGCTGCAGAGCCCTGCTCCGCGGGGCCCCGTGGATGGGTGGGAAGCAGTATTCGGCCCCCACGGTTCTCAGCAGAGTCAAGATCGCCTTCCTGGTGACAACTTGTCATGGTTTGGGGAAGGGGAGATGGCACAGGATCAGAAATGATGTCAACATGCAAAGGAGAGGCCCCTCCTTTCCACACTCCGTCCCCTGTCCCAGCTCCCAGGCCCTGGGCACGTGGGCTGCTCCAGAGGCCTCAGCCCACCCTGACAGGGAGTGCTGCCCCCAGGCTGGTACATCCCAAGCAGCTTCCTAAGGCCAGGGAAGGAGGATATGGGAGGAGGAGGTCAGTGTCACCCTGCCCGATGCCTGTGGGAACCCCTTCTTTCCTTCTACTCCAGCCAAGAAAGCAGGAATCCCATGGCCACATTCAGTGATTCTCAAAAATGCTAAGTGATAGTTCAGGGTTCCAAAGGGACTAATGAGCCAGCCAGGGGGCACCTACTCCATTTGATGGATGGGATTGCTGAAAAGGAGGTCATAGATGCGGTGCATGCAGACACACACGTGTGCACTGGCACACACACACTGCTGCCATCAGGTACCTGCCCACAGTGACCCCCACAGCTGCTGAAACCCTCCAGAGCGGGCTCCAGGCCTCTGGTGAGGAGGATCTGCTCTGTCCAGCTCTGAAGCTAAGGCTCACTGTGCGAGCGTGCAGCACATGGCCATGCACTCTGCCCACACAGGCATGCCCAGAGCTCGTGCAGTGTAGTGCATGCACCCTTGGTCATTCTAGCCAGTGGTTCCATCAGTGAATTCCCCAACGGTGGGGAAAGAAGGCTGCTGCTGGCTCTCCTGTCCCCACCCCTGCTGGGAATCTTAGCTCCCTGAGGTGGGGGGCGCTGCACGGGAGAGGATGCTGGTATAGCAAGCCCCGTGGTGGGCCTGCATCTACTGCTCAGGGCCCTTGTGCTTGGGTAAGGAAGCCCCCTCTCTGAGTACGAGGTGCTCCTGGCAGCTCTGAGCAGGGCGGGTCAGCACAGGATGCTGGCACCTGATGCCTGGGACTTCCCTCCTCCTCGGTCCCTGTATCCACCCAACCCTCACCCCACTCCAGCCCCAGAGTGCAGAGCACATACGTCTGCCGATTTTGGAGGCTAGGAATGTAGGAGTCTCCCCAAAGTCATTCGGGGTGTCCACTTCTGCTCCGAACACGATGAGGGCCTTGATCATCTCCACGTTGTCTTTCTGTTGGAGATGGAGAGAGGATAAGACGTGCAACTGCCGGGGAAGTGAAGAACAAAGGGGCCCCTGGCTGCCAGCCCCAACCTGTCAACTCACCCAGCGGGCCTCTCCTCAGCACGGGGAGACACTGGAACCCTCCTCACCCCCACCCAAGTCAATCTGGTAGTCCAAAGTCTGCCATTTGATGGCTGGGGACCTGACAAACAGGCTTAAAAGCACCCACAGGGGAGGGTGTAAGAACCCAGGCAGAAACTAGAAGTGACTCGCCCCTGCTCTGCCAGCTCCGCCTCCAAAGATGCAGTGCATCTGTGACCCCGACCCAGGAGCCATGGGGACACAGTAGGTCAGCTGCTGATGGCTTTCAGGAGTAGCAAGGAGAGGGTGGGTGAGGGCAGGGAAGGCCATCTTGCCCACCCAGTCCAGGGTGTCATCCCTGAGGGGTAACCGAACACACGTGCCCCTAATGGCAGCCTTCGGGGGAGTGTCCCCACGAAGAACGTCACACATTTCCACACCTGGAGGCCGGGCAGGGGCGCAGAGCATGGCATGGTTTCAGAGGACACACTGGCCACCTGGAACTGTGGGCTCTGGCCTTGTCACCTTCCTCTTCTTGGGACCCGATTTCCCTGCCTAGAGAATGAAGCTGTGGGTCTAGAATGGGGTTTTCCAAACAGTTCTTCACATTCTATTAGGACTTCTATGGCTACAGATATGTGTGTGTTTTCAGCATTAACTGTGATTTTTTGTTGTTGTTACTGTTTTGTTTTGTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTN
|
pathogenic
| 327,062 |
Clinically, how would you classify the variant at chromosome 22, position 38132882, gene PLA2G6 (phospholipase A2 group VI): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Autosomal_recessive_Parkinson_disease_14', 'Inborn_genetic_diseases', 'Infantile_neuroaxonal_dystrophy', 'Neurodegeneration_with_brain_iron_accumulation_2B']
|
TCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAGCTAATTTTGCATTTTTAGTAGAGATGGGCTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCTGACCATCTTGGCCTCCCAAAGTGCTGGTGTACACGAGCCACTGCAGCTGGCCAGTTATTTTTTAAGTTTTTTAAAAAATTTTTAATTTTAATTTTTGTGGGTACATAGTAGGCATATATATTTATTATTGTTATTTTTAAATGAATTAATATTTTGAAATTTTCACACTTTAAATTTCTAAAATGGTAAATATAGATAAAGAAAATCCAGATGATTAAAAAATCTTTGTGATCCTCAATAATTTTTCAGAGTATAAAGGGATCAAATAGGCCAAAAAACTTGAGAACTGCTGAGTTAGATCATTCCAAGGGCCCACCCAGTGCTAAAAATGTCCACAGTTTCAAAAATGAAACTATTTATAGTTTCAGCCTTTTGGGCAACAACATCTCTTCCAAGTTTTGACCTTTGGTATAAAACAGGATGTCTCTGAATGTGTCCTGAATCAGCTTTTAGAGTCCCGGGGGTCTCTCATGTTCTGTCACTGAGACTCAGTAAACAGACTTCTGTACATACGGTATTGCTATAGAAAACGTGCACACGGTGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGTGCCAAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGTGCGAGACTCCATCTCGAAAAAAAAGAATACATGCACACACATATGTCTGTAACACAGTAACGTCCTCCTCTGCTAGGTTTAATATGTTCATACTCTAGATGTGTAACCAGACAGTAAGGGCTTTGAGGGCAGGAACTGTGTTCTATAATAAACCAACGAATATGCCTGGCACCTGCCACAGGCTGCTGGGCTGCACACTCAGGCTTTGCCTGCCAGGATCTTACAGCCTCCCAGGGAAGATGAGAGCAACACGCGGACCAGTGAAGGGAAGCAGGATGCTCACTCGGGCCAGGTACTGCGTGTGTCACTTAGACATTCTGTAGAGGGTGACCAAGTGTCCACCATAACTTTTCCACAACTCTTCCAGATAAGTATTGACACCACCATTTTCCAGATGAGGAAATCGAGGCTGACAGGTGACATGGCTTGCTCAGGGCCAGTCTATGGCCAGAGCTGTCATTTTTCCCTCTCGTGCCATGCAAGTGCCAAATGGGGGCACAGGTGGAAAAGGTACCACAGCACACAGGAGGTGGTGTTATTTTGGGCTGAGAGGGGGACTTGGAAGGCTTCCTGAGGGAGGAGTCAGGGTCTGAACTGAGCTTTGGGTGGGAAGATGATTTGGAGCAGCTGACGATAGGAGGGAGACAGTGGGGAGGAGGGCTCCAGTCCGGACAGCCCTCCTGCATTCCCACCGGGGCCCCACAGGGCAGGACACGCGGTCCTGGGCTCACCGACATGGCCAGGTGCAGCGGGGTGTTGCCGTGCTCTCCGCGGGCATCCGCGTTGGCCCCGTGGGTCAGCAGCACTATGGCACAGTCGAAGCGGTTGCGCATCACCGCCACGTGCAGGGCCGTGTTCCCCGCGGAGCTGGTGCTGTTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAGTGCTAGCCTCAGGGTCCTCTCGGGAACCTGCTTCCTGAGGGCC
|
TCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAGCTAATTTTGCATTTTTAGTAGAGATGGGCTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCTGACCATCTTGGCCTCCCAAAGTGCTGGTGTACACGAGCCACTGCAGCTGGCCAGTTATTTTTTAAGTTTTTTAAAAAATTTTTAATTTTAATTTTTGTGGGTACATAGTAGGCATATATATTTATTATTGTTATTTTTAAATGAATTAATATTTTGAAATTTTCACACTTTAAATTTCTAAAATGGTAAATATAGATAAAGAAAATCCAGATGATTAAAAAATCTTTGTGATCCTCAATAATTTTTCAGAGTATAAAGGGATCAAATAGGCCAAAAAACTTGAGAACTGCTGAGTTAGATCATTCCAAGGGCCCACCCAGTGCTAAAAATGTCCACAGTTTCAAAAATGAAACTATTTATAGTTTCAGCCTTTTGGGCAACAACATCTCTTCCAAGTTTTGACCTTTGGTATAAAACAGGATGTCTCTGAATGTGTCCTGAATCAGCTTTTAGAGTCCCGGGGGTCTCTCATGTTCTGTCACTGAGACTCAGTAAACAGACTTCTGTACATACGGTATTGCTATAGAAAACGTGCACACGGTGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGGTGCCAAGGCGGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGCAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGTGCGAGACTCCATCTCGAAAAAAAAGAATACATGCACACACATATGTCTGTAACACAGTAACGTCCTCCTCTGCTAGGTTTAATATGTTCATACTCTAGATGTGTAACCAGACAGTAAGGGCTTTGAGGGCAGGAACTGTGTTCTATAATAAACCAACGAATATGCCTGGCACCTGCCACAGGCTGCTGGGCTGCACACTCAGGCTTTGCCTGCCAGGATCTTACAGCCTCCCAGGGAAGATGAGAGCAACACGCGGACCAGTGAAGGGAAGCAGGATGCTCACTCGGGCCAGGTACTGCGTGTGTCACTTAGACATTCTGTAGAGGGTGACCAAGTGTCCACCATAACTTTTCCACAACTCTTCCAGATAAGTATTGACACCACCATTTTCCAGATGAGGAAATCGAGGCTGACAGGTGACATGGCTTGCTCAGGGCCAGTCTATGGCCAGAGCTGTCATTTTTCCCTCTCGTGCCATGCAAGTGCCAAATGGGGGCACAGGTGGAAAAGGTACCACAGCACACAGGAGGTGGTGTTATTTTGGGCTGAGAGGGGGACTTGGAAGGCTTCCTGAGGGAGGAGTCAGGGTCTGAACTGAGCTTTGGGTGGGAAGATGATTTGGAGCAGCTGACGATAGGAGGGAGACAGTGGGGAGGAGGGCTCCAGTCCGGACAGCCCTCCTGCATTCCCACCGGGGCCCCACAGGGCAGGACACGCGGTCCTGGGCTCACCGACATGGCCAGGTGCAGCGGGGTGTTGCCGTGCTCTCCGCGGGCATCCGCGCGTGGGTCAGCAGCACTATGGCACAGTCGAAGCGGTTGCGCATCACCGCCACGTGCAGGGCCGTGTTCCCCGCGGAGCTGGTGCTGTTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAGTGCTAGCCTCAGGGTCCTCTCGGGAACCTGCTTCCTGAGGGCCNNNNNNN
|
pathogenic
| 327,077 |
Determine whether the variant at chromosome 22, position 38135024, in gene PLA2G6 (phospholipase A2 group VI) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Autosomal_recessive_Parkinson_disease_14', 'Infantile_neuroaxonal_dystrophy', 'Neurodegeneration_with_brain_iron_accumulation_2B']
|
TTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAGTGCTAGCCTCAGGGTCCTCTCGGGAACCTGCTTCCTGAGGGCCCTGAGGACCTGCGGGGCCCGGCCCCCTGCCCCACCCACCCACCTCAGGATCCACTCACCTCTGCGTTCTTGGCCCAGTGGAGGGGGCTGGCTCCGTAACGGGGGTCTTTGCTGTGGATCTGGCTGCTGTCCATGCTGATGATCATCTCCGCACACCTGGTGAGAGAGGGGCCCCGGTTGGTGAGCAGAAGCTAGGGTCTGCGTGGCGTGGGATGAAGCCAGGACTTGGAGCTTCATCTACTGCTTACAGAGAGCATCACTGCAAACAAAGTTCAGCAAACCCAACCAGCACACTCACCATGGTTAAGGCTGTACTGAGCCCCTCAAGGCACAACTAACCCCCTCCTCCAGGAAGCCTTCCTGATGCTGCCACCAGCAATGATCACCCTCCCTGGTACTGGCTTTAGAGTCAGATGGGCTTGAAGTCAAGCCCCAGCTTCCTCACTGGTGGCCTCCAGAAGCTGAGCAACATGGAGAGAGTGCTGAGAGGAGTGGCTGGGGTGTAAGGAAGACCAGGCATTTCAGAGCCCAGTTCTGTGCCTGGCACACAGCCACCCTCCACCTCCTTACCACACTGTCAGTGAGTCACACAGTGACCTGCATGCTATAGGAAGCAGTATGACAGAGTGGGAAAGAGCACAATTGCTTTCTACTCGGTGCCTGAGGCAAGCAGTGTCCACCAGAGATCTTAGCATCTCCAGCCTCAGAGCAGAGGCCCCGGGTTCACAAGCCTCATTAGGCCCCGCCTGGCCCAAAGAAAGTGCTCCATCATTGTATCATGGGTAGGAATCTCGGTTCACAAGTTCAGCTGTGCAAGGAGAAGACTTTAAAATTTTTCTGGCTGGGCGCGGTGTCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCGGAAGTATCAAAGGACGGAATGCAGGGACTTGAATGGACATTTGCAGACCCATGTACACAGCAGCATTCTTCACAACAGACAAAAGGTGGAAACAACCCAGGCGTCTATCAGTGAAGGACTGAATGGATAAACAAAATAGTATTCTGCCTTAAAAAGAAAGGAAATTCTGATACGTGCTGCAACATGGATGAGCCTTGAAGACATCATGCTAAGTGAAATAAGCCAGGCACAAAAGGACAAACGCTGTATGATTTCACTGATACGAGGTTCTAGAACAGGCAAGTTCTGAGAGACAGAGAGGATATGGGACTTATCGGGGGCTGTGGGGAGGGGAGAATCGGGAGTTATTAATGGTTACAGTTTCTGTTTGAGGTGATAAGAAAAGTTTTAGAAAGGGGTAATGGTTGGACAACATTGTAAATGTGATTAAAACCACCGAATTGTACACTTAAAAGTGGTTAAAATGGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAAATACAAAATTAACTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTAACGGTAAGCCGAGATCACACCATTGCACTCCAGCCTGAGCAACGAGAGCGAAACTCTGTCTCAAAAACAAAAAACAAAAGTGGTTAAAATGGCAAATTTTATGTTATATATAATCTATCACAGTTGGAAAAAATAAACATAATATATCAGAATCATTGTATACTTTCAATAGGTGGATTGTATGGAATAGGAACTATATCTCAATAAAGCTTTTTTTTTTTTTTTTTTTTAGTGCAATTACTAGGACAGCCCACATGGGTTTAATTCCCAGGTCTGGCACTTACTGACTGCCTGACTTTGAGCAAATTACTTAATCTCTCTAAGCCCTGGTTTCCTCATCTGTTTTTTGTTTGTTTGTTTGAGACAGGATTTCCCTTTGTCACCCAGGCTGGAGGGCAATGGCATGATCATAGCTCACTGTAGCCTCAAACTCCTAGGCTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCACACTTGGCCCTCAGCTTTAGAGGGGGAATAAAATACATCAGCT
|
TTCACGTTGCAGCCCCGTTTCAGCAGCATGCGGGCCATCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCTCCCTGCATCCCTCCCTGGAACCCTGCAAAGGTATCACCTCTCACTGGGCCTTGGCAATGCACATCCCTGGCAGAGCCTTGGGAACAGGGAGGGGAGCCTGGCTTTGGAGTCACAGACCTGAGCCCAAAGCCCAGCTTCACTCATCCCAGCTGCCTGCGCTTGGATGGGTCACTGTAGCCATGTGCACTTCAGGGCTTCTGTGAAGATGGGAATGCAAGTCCCCACCTCACAGCATGTGATGACAATGAGTGACCAAACCTACACGGAAGGGCCTGACTCGGTGTCCGGCTCCTGGAATGCAGAGGTACCCTGAGGCTGGCAGTGCCCTCCCTCCTGGCCCATCACATTGAGAAGTAGGCCATGAACTCTGGGGCATCCCATTCTCTGTCAAGCTGTGCTTCCTGGTGATGAGACCAGAGGCCTCCATCCTCCCAGGAGGACAGAGCTTAGCTTAGGGGAAGAACTCAGAGGAGATGCCCAGCCAGGCTCCCTGTGTGTGCAGCTAGGCCCAGCACCACCACCACCACCATCATCATCCATCATCATCATCATCATCTTGATGGTTAATAATGAGTGTCAACTTGATTGGATTGAAGGATGTAAAGTATTGACCCTGGGTGTGTCTGAGAGGGTGCTGCTAACGGAGATTAACATTTGAGTCAGTAGGGGAAGGCAGACCTACCCTTAATCTGGGTGGGCACCATCTAATCAGCTGCCAGCACGGCCAGAATATAAAGCAGGCAGAAAAAAATGTGAAAAGGCTAGACTGGCTTAGCCTCCCAGCCTACATCTTTCTCCCGTGCTGGATGCTTCCTGCCCTCAAACATCAGACTCCAAGTCCTTCAGCTCTGGGACTTGGACTGGCTTCCTTGCTCCTCAGCTTGCGATGGCCTATTGTGGGACCTTGTGATCGTGTGAGTTAATGCTCCTTAATAAATCCCCCTTTAGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAATAAAATAAAAAAATAAACCCCCCTCTCTCTCTATATATATATCTCCTGTTAGTTCTGGCCCTCTAGAGAATCCTGACTAATAATACAATCATCATCACGCCACCTTCTATTTGGGAAGCACTTTACAATTTGTGCCGAGTTTTGTCACACACTGCCTTGCTGACTTCATCACATCGCCAAAGCAGAATTCATGGATGAGGAAACTGAGGCACAGGGCGGATCCCCCCGCCCAGCCAGAGAGCAGCAGAGCCCTGCCAGGATCCCAGCTCTTCATGGACTTCTCTGCCTGCACACCCACTGCAAGGTCAGCCCCCAAGTGCTAGCCTCAGGGTCCTCTCGGGAACCTGCTTCCTGAGGGCCCTGAGGACCTGCGGGGCCCGGCCCCCTGCCCCACCCACCCACCTCAGGATCCACTCACCTCTGCGTTCTTGGCCCAGTGGAGGGGGCTGGCTCCGAACGGGGGTCTTTGCTGTGGATCTGGCTGCTGTCCATGCTGATGATCATCTCCGCACACCTGGTGAGAGAGGGGCCCCGGTTGGTGAGCAGAAGCTAGGGTCTGCGTGGCGTGGGATGAAGCCAGGACTTGGAGCTTCATCTACTGCTTACAGAGAGCATCACTGCAAACAAAGTTCAGCAAACCCAACCAGCACACTCACCATGGTTAAGGCTGTACTGAGCCCCTCAAGGCACAACTAACCCCCTCCTCCAGGAAGCCTTCCTGATGCTGCCACCAGCAATGATCACCCTCCCTGGTACTGGCTTTAGAGTCAGATGGGCTTGAAGTCAAGCCCCAGCTTCCTCACTGGTGGCCTCCAGAAGCTGAGCAACATGGAGAGAGTGCTGAGAGGAGTGGCTGGGGTGTAAGGAAGACCAGGCATTTCAGAGCCCAGTTCTGTGCCTGGCACACAGCCACCCTCCACCTCCTTACCACACTGTCAGTGAGTCACACAGTGACCTGCATGCTATAGGAAGCAGTATGACAGAGTGGGAAAGAGCACAATTGCTTTCTACTCGGTGCCTGAGGCAAGCAGTGTCCACCAGAGATCTTAGCATCTCCAGCCTCAGAGCAGAGGCCCCGGGTTCACAAGCCTCATTAGGCCCCGCCTGGCCCAAAGAAAGTGCTCCATCATTGTATCATGGGTAGGAATCTCGGTTCACAAGTTCAGCTGTGCAAGGAGAAGACTTTAAAATTTTTCTGGCTGGGCGCGGTGTCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCGGAAGTATCAAAGGACGGAATGCAGGGACTTGAATGGACATTTGCAGACCCATGTACACAGCAGCATTCTTCACAACAGACAAAAGGTGGAAACAACCCAGGCGTCTATCAGTGAAGGACTGAATGGATAAACAAAATAGTATTCTGCCTTAAAAAGAAAGGAAATTCTGATACGTGCTGCAACATGGATGAGCCTTGAAGACATCATGCTAAGTGAAATAAGCCAGGCACAAAAGGACAAACGCTGTATGATTTCACTGATACGAGGTTCTAGAACAGGCAAGTTCTGAGAGACAGAGAGGATATGGGACTTATCGGGGGCTGTGGGGAGGGGAGAATCGGGAGTTATTAATGGTTACAGTTTCTGTTTGAGGTGATAAGAAAAGTTTTAGAAAGGGGTAATGGTTGGACAACATTGTAAATGTGATTAAAACCACCGAATTGTACACTTAAAAGTGGTTAAAATGGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAAATACAAAATTAACTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTAACGGTAAGCCGAGATCACACCATTGCACTCCAGCCTGAGCAACGAGAGCGAAACTCTGTCTCAAAAACAAAAAACAAAAGTGGTTAAAATGGCAAATTTTATGTTATATATAATCTATCACAGTTGGAAAAAATAAACATAATATATCAGAATCATTGTATACTTTCAATAGGTGGATTGTATGGAATAGGAACTATATCTCAATAAAGCTTTTTTTTTTTTTTTTTTTTAGTGCAATTACTAGGACAGCCCACATGGGTTTAATTCCCAGGTCTGGCACTTACTGACTGCCTGACTTTGAGCAAATTACTTAATCTCTCTAAGCCCTGGTTTCCTCATCTGTTTTTTGTTTGTTTGTTTGAGACAGGATTTCCCTTTGTCACCCAGGCTGGAGGGCAATGGCATGATCATAGCTCACTGTAGCCTCAAACTCCTAGGCTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACCACACTTGGCCCTCAGCTTTAGAGGGGGAATAAAATACATCAGCTN
|
pathogenic
| 327,090 |
Gene PLA2G6 (phospholipase A2 group VI) variant at chromosome position 38140023 on chromosome 22: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Autosomal_recessive_Parkinson_disease_14', 'Infantile_neuroaxonal_dystrophy', 'Iron_accumulation_in_brain', 'Neurodegeneration_with_brain_iron_accumulation_2B', 'PLA2G6-associated_neurodegeneration']
|
GATCTCCCTGCTCCACTCAAGGTAGGAGCCTCTTCCTTTGTCTTCTGTGCAAAGATCCTCTTATGTGATGGGACGCTGGACCCACCCAGGATGGCCTGTGTGGGGACAGAGGGACCGGTGAGGGCTGAGGTTGTTTGAAGAGAGAGAAAACTGGTCAATTACAGCTCCTGCCCAGTACAGCTCAGGGTGGCTGGAGACAAGCAAGAGTGGGGCCATGTGCCAGCCCTCTGGGTAGAGAAGAGCATCACCTGGTGTCCACTCAGGTCACAACCTGCAAATGGGGAACCTGACTGCGGGGCTGGGGGTGTTGGTATCTTCTCTGTTTGGTCAAGTATTTCTGAAAGCTCTAGCTCATTCTGGCTGTGCTTGGGAGATTCAAGGAAAGGAGGGTTTGTCCAGGCTTGGTCCAGCCCTTAGAAGGGCTAGCAATGCCCCATGGGGCTAGCAAGGTGGATGCAGCTCCCAGAGGAAGGAACAACCTGAGGACAGGCACAAGTGCCAGCCTCCCTGCCTGAGTGCTGCCCGTCCATGCCTTCTCACTGCTTGTCTGGCACTGCGCTATGAGATTCTGGGTGGCTGGGGTGTCTCCTGTCCTGGAGTGGCTTATTCATTTCGGTGAGGCTGGTGCTTTAGCACAGTGCCAGGATCGAAGGACTCATTGGCTCATTCATTCATTCTAGATGTTGTTCCTGTTAGATAGTATTTTTTTTCTTGAGATGGAGTCTTGTTCTGTCGCCCTGGCTGGAGTGCTGTGGCACAATCTCAAATCACTGCAACCTCTGCCTCCCAGTTTCAAACAATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCACCCACCTTGGCCTCCCAAACTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGATAGTATTTTGAGATTTGAGATATTCATTTATCTTTTTATCTCATCCCCTACCCCTTTGAAGACAATTTTCCTGACACCAGGGGTTCCCAGGCTCCCAAAACATGAGCCTGTACCTGCCTCCCAACGTGCCACCAGCCAGAAAGGAAAGAGGCATCTAGGTGGACGGGCACTCGGCCACCTTACCAAGCATTTCCCAGGCTTTGAGCTGGGCACACAAGAAACCAAGGAGCACTGAAGCCATCGGGGGGCTGTTCAGATCAGGCTGGGCTGGGTTAGAGGAGGGGCCAGGTGGGCCTTGGGGTTGCATCAGACTCCAGAACTGGAGCACCACCTGGAGGGGAGCTGGAAAGAGGAGACCCCAAAGAGGGCTAAGATTGGTTGTCTCCAGTTTTATAGAGGGAGATTCACTCCTAGGAATTAAGGTACATTAAATAAATTTATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAACGGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGTGTCACCACGCCCAGCTAATTTTGTATTTTTTAGTAGAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGCGCCCAGCCAGAAAAATTTTAAAGTCTCCTCCTTGCACAGCTGAACTTGTGAACCGAGATTCCTACCCATGATACAATGATGGAGCACCTTCTTTGGGCCAGGCGGGGCCTAATGAGGCTTGTGAACCCGGGGCCTCTGCTCTGAGGCTGGAGATGCTAAGATCTATGGTGGATACTGCTTGCCTCAGGCACGGGACAGGTGACAGGAGAGCTGGAGCCCAGCAGGCCAGCAGATGGGGAGGGGAGGAGGTCTTACCCCTTCTGAGAGAACTTCATGGCCGAGTGGATGGGGTAGCCGTTGGGGCCCATGATGTTGCACCGAGCATTGCACAGCAGCAGCACGCGGACCATCTCCTGCTTCCCCAGCTGGCAGGCCAGGTGCAGCGGGGTCAGCCCTTGGTTATTCACCTGGTTCAGGCCAGCCACTGCGTTCCTTCCAAGGAGCTGATGAAAGAGGAAGGGAAGTTTGACTCCATAGGATGCTGATAAGAACGTAAAGAGGCCGGGCGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAAGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATGTCGTCTCTTCTAACGATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAACCTGAGGAAAGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCATCATTGCACTCTAGCCTGGGCAATAGAGCAAAAACTCTGTCTAAAAAAAAAGAACGTAAAGAGAAGCACCAGGAAAGCCAAGTGCCAGTGTGGATGGGAGGGAAGGGGTCGACCTGGCATGACTGTGGCTCACATGAAACATTTCTGAGTCAAGGAACTTAAAAGGTAGCTGTATCTCAGGATGGGCACTGGGGGTCCAGGTGGGAATGATTCTTGCTTTTCATTCTGTCCTGACTGATTTTTTTCTACATGCAGGTACTATGTTTTCAATGAAAGAACAGCAGTATTAAAAAGAGAGCCAGGGGCCAGGCGCAGTGGCTCATGCTTGTAATTCCAACACACTGGGAGGTGAGAGGATCACTTGAGACCAAGAGTGTGATACCAGCCTCGGCAACATAGGGAGACCCCATCTTTACCAAAAAAATTTTAAAAATTAGCTGGCGTGGCCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACAAGGTCAGGAGACCAAGACCATCCTGGCGAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGGATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAATTAGCCCATGTGGTGGCACGAGCCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGTGGGAGGATCACCTGAGTCCAGGAGGTTGAGGCTGCAGTGAGCCACAATCACACCACTGCACTCCAGCCTGGGCGACAGAGCTAGATGCTGTCTCAAAAAAAAGAAAGTGCTAGGAGGGTTTTACTGTCTCACTTTTGGCTCAGTGCTGTCCCCATGAGGTTCATTACAACCACAGTGTACCCATGTGACACCAGGGTCACCTCACAGCAGTCCCACTGGACCTGAAGGCAGGCCAGAGACACAGCAGGAAGAGCAAAGGGCTGGCATCGAGGCCAATGTAAGGTCAAGCCCCACTCTCTCAGCTTTGTGGCCCTCCCTGGGCACGCTTCTTAATTAACAACACTGAACCTCAGTTTCTTCGGAGAGGAAAGGGGAATAATGACCTCCACCCCATGAGTGTATTCTAAGAATTAACTGGAACACATACAACACTCAGTTCAAGGTCAGGCACCAATCAGCACCGGATAAAGGACAGCTGCAGTCGTGCATGACTATCGAGAAGCGGGTGTGCACACCCCCGCATGGAGGCAGGGTCTGCGCGGCACCATGCTGGGTGCGCAGAGGATTCTCGGTGAAAGTGGAGTTCAACAGTGGGTGGAGAATTCCCTTCCCTGAGAGCAAGAAGCATAAGATATGAATCCACATTTTCTGGGCCGGGCACAGTGGCTCACACCTGTAATCCCGGCATTTTGGGAGGCTGAGGCAGGTGGATCACTTAAGGCCAGGAGTTGGAGACCAGCCTGGGCAACATGGCAAAACCCCATCCCTACTAAAAATACGGAAACTACCCAGGCATGGTGGCACATGCC
|
GATCTCCCTGCTCCACTCAAGGTAGGAGCCTCTTCCTTTGTCTTCTGTGCAAAGATCCTCTTATGTGATGGGACGCTGGACCCACCCAGGATGGCCTGTGTGGGGACAGAGGGACCGGTGAGGGCTGAGGTTGTTTGAAGAGAGAGAAAACTGGTCAATTACAGCTCCTGCCCAGTACAGCTCAGGGTGGCTGGAGACAAGCAAGAGTGGGGCCATGTGCCAGCCCTCTGGGTAGAGAAGAGCATCACCTGGTGTCCACTCAGGTCACAACCTGCAAATGGGGAACCTGACTGCGGGGCTGGGGGTGTTGGTATCTTCTCTGTTTGGTCAAGTATTTCTGAAAGCTCTAGCTCATTCTGGCTGTGCTTGGGAGATTCAAGGAAAGGAGGGTTTGTCCAGGCTTGGTCCAGCCCTTAGAAGGGCTAGCAATGCCCCATGGGGCTAGCAAGGTGGATGCAGCTCCCAGAGGAAGGAACAACCTGAGGACAGGCACAAGTGCCAGCCTCCCTGCCTGAGTGCTGCCCGTCCATGCCTTCTCACTGCTTGTCTGGCACTGCGCTATGAGATTCTGGGTGGCTGGGGTGTCTCCTGTCCTGGAGTGGCTTATTCATTTCGGTGAGGCTGGTGCTTTAGCACAGTGCCAGGATCGAAGGACTCATTGGCTCATTCATTCATTCTAGATGTTGTTCCTGTTAGATAGTATTTTTTTTCTTGAGATGGAGTCTTGTTCTGTCGCCCTGGCTGGAGTGCTGTGGCACAATCTCAAATCACTGCAACCTCTGCCTCCCAGTTTCAAACAATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGACTTCAGGTGATCCACCCACCTTGGCCTCCCAAACTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGATAGTATTTTGAGATTTGAGATATTCATTTATCTTTTTATCTCATCCCCTACCCCTTTGAAGACAATTTTCCTGACACCAGGGGTTCCCAGGCTCCCAAAACATGAGCCTGTACCTGCCTCCCAACGTGCCACCAGCCAGAAAGGAAAGAGGCATCTAGGTGGACGGGCACTCGGCCACCTTACCAAGCATTTCCCAGGCTTTGAGCTGGGCACACAAGAAACCAAGGAGCACTGAAGCCATCGGGGGGCTGTTCAGATCAGGCTGGGCTGGGTTAGAGGAGGGGCCAGGTGGGCCTTGGGGTTGCATCAGACTCCAGAACTGGAGCACCACCTGGAGGGGAGCTGGAAAGAGGAGACCCCAAAGAGGGCTAAGATTGGTTGTCTCCAGTTTTATAGAGGGAGATTCACTCCTAGGAATTAAGGTACATTAAATAAATTTATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTTTCGCTCTTATTGCCCAGGCTGGAGTGCAACGGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGCATGTGTCACCACGCCCAGCTAATTTTGTATTTTTTAGTAGAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGACACCGCGCCCAGCCAGAAAAATTTTAAAGTCTCCTCCTTGCACAGCTGAACTTGTGAACCGAGATTCCTACCCATGATACAATGATGGAGCACCTTCTTTGGGCCAGGCGGGGCCTAATGAGGCTTGTGAACCCGGGGCCTCTGCTCTGAGGCTGGAGATGCTAAGATCTATGGTGGATACTGCTTGCCTCAGGCACGGGACAGGTGACAGGAGAGCTGGAGCCCAGCAGGCCAGCAGATGGGGAGGGGAGGAGGTCTTACCCCTTCTGAGAGAACTTCATGGCCGAGTGGATGGGGTAGCCGTGGGGCCCATGATGTTGCACCGAGCATTGCACAGCAGCAGCACGCGGACCATCTCCTGCTTCCCCAGCTGGCAGGCCAGGTGCAGCGGGGTCAGCCCTTGGTTATTCACCTGGTTCAGGCCAGCCACTGCGTTCCTTCCAAGGAGCTGATGAAAGAGGAAGGGAAGTTTGACTCCATAGGATGCTGATAAGAACGTAAAGAGGCCGGGCGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCAAGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATGTCGTCTCTTCTAACGATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAACCTGAGGAAAGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCATCATTGCACTCTAGCCTGGGCAATAGAGCAAAAACTCTGTCTAAAAAAAAAGAACGTAAAGAGAAGCACCAGGAAAGCCAAGTGCCAGTGTGGATGGGAGGGAAGGGGTCGACCTGGCATGACTGTGGCTCACATGAAACATTTCTGAGTCAAGGAACTTAAAAGGTAGCTGTATCTCAGGATGGGCACTGGGGGTCCAGGTGGGAATGATTCTTGCTTTTCATTCTGTCCTGACTGATTTTTTTCTACATGCAGGTACTATGTTTTCAATGAAAGAACAGCAGTATTAAAAAGAGAGCCAGGGGCCAGGCGCAGTGGCTCATGCTTGTAATTCCAACACACTGGGAGGTGAGAGGATCACTTGAGACCAAGAGTGTGATACCAGCCTCGGCAACATAGGGAGACCCCATCTTTACCAAAAAAATTTTAAAAATTAGCTGGCGTGGCCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACAAGGTCAGGAGACCAAGACCATCCTGGCGAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGGATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAATTAGCCCATGTGGTGGCACGAGCCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGTGGGAGGATCACCTGAGTCCAGGAGGTTGAGGCTGCAGTGAGCCACAATCACACCACTGCACTCCAGCCTGGGCGACAGAGCTAGATGCTGTCTCAAAAAAAAGAAAGTGCTAGGAGGGTTTTACTGTCTCACTTTTGGCTCAGTGCTGTCCCCATGAGGTTCATTACAACCACAGTGTACCCATGTGACACCAGGGTCACCTCACAGCAGTCCCACTGGACCTGAAGGCAGGCCAGAGACACAGCAGGAAGAGCAAAGGGCTGGCATCGAGGCCAATGTAAGGTCAAGCCCCACTCTCTCAGCTTTGTGGCCCTCCCTGGGCACGCTTCTTAATTAACAACACTGAACCTCAGTTTCTTCGGAGAGGAAAGGGGAATAATGACCTCCACCCCATGAGTGTATTCTAAGAATTAACTGGAACACATACAACACTCAGTTCAAGGTCAGGCACCAATCAGCACCGGATAAAGGACAGCTGCAGTCGTGCATGACTATCGAGAAGCGGGTGTGCACACCCCCGCATGGAGGCAGGGTCTGCGCGGCACCATGCTGGGTGCGCAGAGGATTCTCGGTGAAAGTGGAGTTCAACAGTGGGTGGAGAATTCCCTTCCCTGAGAGCAAGAAGCATAAGATATGAATCCACATTTTCTGGGCCGGGCACAGTGGCTCACACCTGTAATCCCGGCATTTTGGGAGGCTGAGGCAGGTGGATCACTTAAGGCCAGGAGTTGGAGACCAGCCTGGGCAACATGGCAAAACCCCATCCCTACTAAAAATACGGAAACTACCCAGGCATGGTGGCACATGCCN
|
pathogenic
| 327,096 |
Does the variant on chromosome 22 at location 38143177 affecting gene PLA2G6 (phospholipase A2 group VI) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Inborn_genetic_diseases', 'Infantile_neuroaxonal_dystrophy']
|
GCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAATTAGCCCATGTGGTGGCACGAGCCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGTGGGAGGATCACCTGAGTCCAGGAGGTTGAGGCTGCAGTGAGCCACAATCACACCACTGCACTCCAGCCTGGGCGACAGAGCTAGATGCTGTCTCAAAAAAAAGAAAGTGCTAGGAGGGTTTTACTGTCTCACTTTTGGCTCAGTGCTGTCCCCATGAGGTTCATTACAACCACAGTGTACCCATGTGACACCAGGGTCACCTCACAGCAGTCCCACTGGACCTGAAGGCAGGCCAGAGACACAGCAGGAAGAGCAAAGGGCTGGCATCGAGGCCAATGTAAGGTCAAGCCCCACTCTCTCAGCTTTGTGGCCCTCCCTGGGCACGCTTCTTAATTAACAACACTGAACCTCAGTTTCTTCGGAGAGGAAAGGGGAATAATGACCTCCACCCCATGAGTGTATTCTAAGAATTAACTGGAACACATACAACACTCAGTTCAAGGTCAGGCACCAATCAGCACCGGATAAAGGACAGCTGCAGTCGTGCATGACTATCGAGAAGCGGGTGTGCACACCCCCGCATGGAGGCAGGGTCTGCGCGGCACCATGCTGGGTGCGCAGAGGATTCTCGGTGAAAGTGGAGTTCAACAGTGGGTGGAGAATTCCCTTCCCTGAGAGCAAGAAGCATAAGATATGAATCCACATTTTCTGGGCCGGGCACAGTGGCTCACACCTGTAATCCCGGCATTTTGGGAGGCTGAGGCAGGTGGATCACTTAAGGCCAGGAGTTGGAGACCAGCCTGGGCAACATGGCAAAACCCCATCCCTACTAAAAATACGGAAACTACCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCACGAGCATCACTTCAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGAGACATAGGGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAATCCACATTTTCTGGTATAACGTAGTTGCATTCTGATGCCAAGGCAGAGAGAACATGATCTTTAGAAGAATTTTCTAATTCTAGACAATAAAACATAATCCAACATCCTGCCTTTTCTGTTCAATCTAATATATGAAATAGCTATTTAATAGTATCACCCCATCTGCTTGCCCACAATTAAAAAATCACATCTTTTGCCCAGGTAATCAAAAACGTTAACAGGAGGGCCTCTGGCACAAATGCCTACAGGAACTGGAGACAGTTTGGTTTGCTTGGTTTGAATTCCTGTAAAATAGGGTTGTCCAATATTTTGGCCTCCCTGGGCCACATCAGAAGAATTGTCTTGGGTCACACATAAAATACATGAACGCTAACAACAGCTGATCTAAAAAAAAGGTCCATGCATGGATCTCATAATGTTTTAAGAAAGTTTGTGAATTTGTGTTGGGCCACATTCAAAGCCGTCCTGGGCTGCATGCAGCCTGCAGGGCCACAGATTGGACAAGCTTGCAAAAGGTTAAGCCCAGGTCCCGCTGGCCCACGAGCCCCTCCAGGCAGGCATCTGGCTCACAGTTTGTGCTCAGGAAAAGTGGAACTGAACTAACTGACTGGAGCTGGGCCTTTTTTGGGGTTTATTTTGCTGGGTTGGAGGCCGTCCCCAGGTTTATCAAGCAAAGAGACTGAGGACGTGGCTCCTGGAAAAGGGCTGGGAGGGAAGAGCCAGGGAGGGGTCTGCACCCTCCATGAAGGAGCTCAGGCCTCAAGGACCAATGGGGGACAGTGAGAGGCCTGAGAGTGACACCTGAGCCTAGGGGCCCAAAGGGAACCGTGGACACCGGGAGGTATCAGTACCAGTCACCCTGCCCCTCCCCCTGCTCACCTGCAGCACCTGAGAATTGTCACCCTGGACAGCATAATGGAAGACGGTCTCTCCCTTGTAGTCGGTGACATCCATCTGAGTGTGGCAGTACTGCACCAGCTCCACCAGGATCTCCCCATCACCCTTGCGGCAGGCCAGGTGCAGGGGTGTGCAGCCCTCCTCGTTCTCCGCGCAATTGGCACAGCTGCAGGAGAGGGCCAGGGTGAGCAGAGGTGAGCAGGTGTGGTACAAGGTGGCAGGGGGACCTAAGTGCACATGCAGGGAAGTGCACTCGGAAACTCGGACTTTCTGGTTTATTTGAGCTCAAGAGCATTCCCGCCACTCAGCTAGTTGGGCTGATTTGAATGTAATTATATCTGATGTGACCTGTATCAGGTTTCTGTTCAGTTTGCTCACTCGTACAAGAGATGGGCCCCAGGGCCACACCAGCAGGAAGTGGGCAGGGTGGTGGCACAGGAAAGGGTCACAGAACACGGATATCTCACTAGCCTCAGGCAATTCACTTAACCTTTCTGGGCGTCAATATCCTTATCGACACAAGCTGCTGTGCCTGCCCCAGGAAATGGACAGAGTGATGGTGAGATGAGACAGTGCTGTCCAAAAGCACGCCTGGAAACTAAAGTGCAGTGAGGGTTTTTGTTTTGTTTTGTTTTTTTGAGGTGGAGTTTCACTCTTGTTGCCCAGGCTGTAATGCAGTGACACAATCTCGGCTCACTGCAACCTCCGCCTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTTGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATACACCCGCCTCGGCCTCACAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGCAGTGAGGTTTTGAGTTCTGGGCCTGGGAGCTTAACTGAGCTATCTAGGATAGAGACTCAGAGGAGGTGTGGCTACCTCTGCACAAGATGGCCAACTGGTGCCCTGTGCAAGGGTGGGGACAGTGCCCTCACCAGGGGCAACAGCTGCTCCATCTGCTGGCTGAATGGATTCACAAAAGGAGGCCTTCAGCTTCCAGAAGAGCAGCCTGGGCAGACACCAAGGATCCAAGCCCCTCTTTCACCCTCTCTGGCTGAGTGACCTGCACAAGTCCTGTTAGCTCTCTCTAGAATGATGATACCTGGGCCGGGCATGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGAGGGCAGATCACCTGAGGTTAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAACACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTACCCGGGCATGATGGCACATTACTGTAATCCCAGCTATTCCGGAGGCTGAGGCAGGAGAATCACCTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAATAAGACTCCGTCTCAAAATAAAATAACATAACGTAACATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAGTAAAATAAAATGACGATACCTTGTGGGGGTTGGGAAAATTCAATTTCATGGTGGGTAGAAATCAGCTCCCACAGACCTGGCACCTGGTGAGCACTCCGGACTCTGGAAACATTACATTGTCCTTCTTACATTTTAATCTGGTAGCAACGCAGCACCTTTTTTTTTTTTTTTTTTTTTTTCCTAGAGACAAGGTCTCATTCTGTCACCCAGGCTGAAGTGCAGTGGTGCAATCATAGCTCACTGTAAACTCTAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCATCCCAAGTAGCTAGGAGTATAGACACATGCTAATTTTTTAATTTTTTCGTAGAGACAAGGTC
|
GCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAATTAGCCCATGTGGTGGCACGAGCCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGTGGGAGGATCACCTGAGTCCAGGAGGTTGAGGCTGCAGTGAGCCACAATCACACCACTGCACTCCAGCCTGGGCGACAGAGCTAGATGCTGTCTCAAAAAAAAGAAAGTGCTAGGAGGGTTTTACTGTCTCACTTTTGGCTCAGTGCTGTCCCCATGAGGTTCATTACAACCACAGTGTACCCATGTGACACCAGGGTCACCTCACAGCAGTCCCACTGGACCTGAAGGCAGGCCAGAGACACAGCAGGAAGAGCAAAGGGCTGGCATCGAGGCCAATGTAAGGTCAAGCCCCACTCTCTCAGCTTTGTGGCCCTCCCTGGGCACGCTTCTTAATTAACAACACTGAACCTCAGTTTCTTCGGAGAGGAAAGGGGAATAATGACCTCCACCCCATGAGTGTATTCTAAGAATTAACTGGAACACATACAACACTCAGTTCAAGGTCAGGCACCAATCAGCACCGGATAAAGGACAGCTGCAGTCGTGCATGACTATCGAGAAGCGGGTGTGCACACCCCCGCATGGAGGCAGGGTCTGCGCGGCACCATGCTGGGTGCGCAGAGGATTCTCGGTGAAAGTGGAGTTCAACAGTGGGTGGAGAATTCCCTTCCCTGAGAGCAAGAAGCATAAGATATGAATCCACATTTTCTGGGCCGGGCACAGTGGCTCACACCTGTAATCCCGGCATTTTGGGAGGCTGAGGCAGGTGGATCACTTAAGGCCAGGAGTTGGAGACCAGCCTGGGCAACATGGCAAAACCCCATCCCTACTAAAAATACGGAAACTACCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCACGAGCATCACTTCAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGAGACATAGGGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAATCCACATTTTCTGGTATAACGTAGTTGCATTCTGATGCCAAGGCAGAGAGAACATGATCTTTAGAAGAATTTTCTAATTCTAGACAATAAAACATAATCCAACATCCTGCCTTTTCTGTTCAATCTAATATATGAAATAGCTATTTAATAGTATCACCCCATCTGCTTGCCCACAATTAAAAAATCACATCTTTTGCCCAGGTAATCAAAAACGTTAACAGGAGGGCCTCTGGCACAAATGCCTACAGGAACTGGAGACAGTTTGGTTTGCTTGGTTTGAATTCCTGTAAAATAGGGTTGTCCAATATTTTGGCCTCCCTGGGCCACATCAGAAGAATTGTCTTGGGTCACACATAAAATACATGAACGCTAACAACAGCTGATCTAAAAAAAAGGTCCATGCATGGATCTCATAATGTTTTAAGAAAGTTTGTGAATTTGTGTTGGGCCACATTCAAAGCCGTCCTGGGCTGCATGCAGCCTGCAGGGCCACAGATTGGACAAGCTTGCAAAAGGTTAAGCCCAGGTCCCGCTGGCCCACGAGCCCCTCCAGGCAGGCATCTGGCTCACAGTTTGTGCTCAGGAAAAGTGGAACTGAACTAACTGACTGGAGCTGGGCCTTTTTTGGGGTTTATTTTGCTGGGTTGGAGGCCGTCCCCAGGTTTATCAAGCAAAGAGACTGAGGACGTGGCTCCTGGAAAAGGGCTGGGAGGGAAGAGCCAGGGAGGGGTCTGCACCCTCCATGAAGGAGCTCAGGCCTCAAGGACCAATGGGGGACAGTGAGAGGCCTGAGAGTGACACCTGAGCCTAGGGGCCCAAAGGGAACCGTGGACACCGGGAGGTATCAGTACCAGTCACCCTGCCCCTCCCCCTGCTCACCTGCAGCACCTGAGAATTGTCACCCTGGACAGCATAATGGAAGACGGTCTCTCCCTTGTAGTCGGTGACATCCGAGTGTGGCAGTACTGCACCAGCTCCACCAGGATCTCCCCATCACCCTTGCGGCAGGCCAGGTGCAGGGGTGTGCAGCCCTCCTCGTTCTCCGCGCAATTGGCACAGCTGCAGGAGAGGGCCAGGGTGAGCAGAGGTGAGCAGGTGTGGTACAAGGTGGCAGGGGGACCTAAGTGCACATGCAGGGAAGTGCACTCGGAAACTCGGACTTTCTGGTTTATTTGAGCTCAAGAGCATTCCCGCCACTCAGCTAGTTGGGCTGATTTGAATGTAATTATATCTGATGTGACCTGTATCAGGTTTCTGTTCAGTTTGCTCACTCGTACAAGAGATGGGCCCCAGGGCCACACCAGCAGGAAGTGGGCAGGGTGGTGGCACAGGAAAGGGTCACAGAACACGGATATCTCACTAGCCTCAGGCAATTCACTTAACCTTTCTGGGCGTCAATATCCTTATCGACACAAGCTGCTGTGCCTGCCCCAGGAAATGGACAGAGTGATGGTGAGATGAGACAGTGCTGTCCAAAAGCACGCCTGGAAACTAAAGTGCAGTGAGGGTTTTTGTTTTGTTTTGTTTTTTTGAGGTGGAGTTTCACTCTTGTTGCCCAGGCTGTAATGCAGTGACACAATCTCGGCTCACTGCAACCTCCGCCTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTTGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATACACCCGCCTCGGCCTCACAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGCAGTGAGGTTTTGAGTTCTGGGCCTGGGAGCTTAACTGAGCTATCTAGGATAGAGACTCAGAGGAGGTGTGGCTACCTCTGCACAAGATGGCCAACTGGTGCCCTGTGCAAGGGTGGGGACAGTGCCCTCACCAGGGGCAACAGCTGCTCCATCTGCTGGCTGAATGGATTCACAAAAGGAGGCCTTCAGCTTCCAGAAGAGCAGCCTGGGCAGACACCAAGGATCCAAGCCCCTCTTTCACCCTCTCTGGCTGAGTGACCTGCACAAGTCCTGTTAGCTCTCTCTAGAATGATGATACCTGGGCCGGGCATGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGAGGGCAGATCACCTGAGGTTAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAACACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTACCCGGGCATGATGGCACATTACTGTAATCCCAGCTATTCCGGAGGCTGAGGCAGGAGAATCACCTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAATAAGACTCCGTCTCAAAATAAAATAACATAACGTAACATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAGTAAAATAAAATGACGATACCTTGTGGGGGTTGGGAAAATTCAATTTCATGGTGGGTAGAAATCAGCTCCCACAGACCTGGCACCTGGTGAGCACTCCGGACTCTGGAAACATTACATTGTCCTTCTTACATTTTAATCTGGTAGCAACGCAGCACCTTTTTTTTTTTTTTTTTTTTTTTCCTAGAGACAAGGTCTCATTCTGTCACCCAGGCTGAAGTGCAGTGGTGCAATCATAGCTCACTGTAAACTCTAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCATCCCAAGTAGCTAGGAGTATAGACACATGCTAATTTTTTAATTTTTTCGTAGAGACAAGGTCNNNN
|
pathogenic
| 327,105 |
Clinical classification of chromosome 22, position 38143276, gene PLA2G6 (phospholipase A2 group VI): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Infantile_neuroaxonal_dystrophy']
|
AGCCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGTGGGAGGATCACCTGAGTCCAGGAGGTTGAGGCTGCAGTGAGCCACAATCACACCACTGCACTCCAGCCTGGGCGACAGAGCTAGATGCTGTCTCAAAAAAAAGAAAGTGCTAGGAGGGTTTTACTGTCTCACTTTTGGCTCAGTGCTGTCCCCATGAGGTTCATTACAACCACAGTGTACCCATGTGACACCAGGGTCACCTCACAGCAGTCCCACTGGACCTGAAGGCAGGCCAGAGACACAGCAGGAAGAGCAAAGGGCTGGCATCGAGGCCAATGTAAGGTCAAGCCCCACTCTCTCAGCTTTGTGGCCCTCCCTGGGCACGCTTCTTAATTAACAACACTGAACCTCAGTTTCTTCGGAGAGGAAAGGGGAATAATGACCTCCACCCCATGAGTGTATTCTAAGAATTAACTGGAACACATACAACACTCAGTTCAAGGTCAGGCACCAATCAGCACCGGATAAAGGACAGCTGCAGTCGTGCATGACTATCGAGAAGCGGGTGTGCACACCCCCGCATGGAGGCAGGGTCTGCGCGGCACCATGCTGGGTGCGCAGAGGATTCTCGGTGAAAGTGGAGTTCAACAGTGGGTGGAGAATTCCCTTCCCTGAGAGCAAGAAGCATAAGATATGAATCCACATTTTCTGGGCCGGGCACAGTGGCTCACACCTGTAATCCCGGCATTTTGGGAGGCTGAGGCAGGTGGATCACTTAAGGCCAGGAGTTGGAGACCAGCCTGGGCAACATGGCAAAACCCCATCCCTACTAAAAATACGGAAACTACCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCACGAGCATCACTTCAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGAGACATAGGGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAATCCACATTTTCTGGTATAACGTAGTTGCATTCTGATGCCAAGGCAGAGAGAACATGATCTTTAGAAGAATTTTCTAATTCTAGACAATAAAACATAATCCAACATCCTGCCTTTTCTGTTCAATCTAATATATGAAATAGCTATTTAATAGTATCACCCCATCTGCTTGCCCACAATTAAAAAATCACATCTTTTGCCCAGGTAATCAAAAACGTTAACAGGAGGGCCTCTGGCACAAATGCCTACAGGAACTGGAGACAGTTTGGTTTGCTTGGTTTGAATTCCTGTAAAATAGGGTTGTCCAATATTTTGGCCTCCCTGGGCCACATCAGAAGAATTGTCTTGGGTCACACATAAAATACATGAACGCTAACAACAGCTGATCTAAAAAAAAGGTCCATGCATGGATCTCATAATGTTTTAAGAAAGTTTGTGAATTTGTGTTGGGCCACATTCAAAGCCGTCCTGGGCTGCATGCAGCCTGCAGGGCCACAGATTGGACAAGCTTGCAAAAGGTTAAGCCCAGGTCCCGCTGGCCCACGAGCCCCTCCAGGCAGGCATCTGGCTCACAGTTTGTGCTCAGGAAAAGTGGAACTGAACTAACTGACTGGAGCTGGGCCTTTTTTGGGGTTTATTTTGCTGGGTTGGAGGCCGTCCCCAGGTTTATCAAGCAAAGAGACTGAGGACGTGGCTCCTGGAAAAGGGCTGGGAGGGAAGAGCCAGGGAGGGGTCTGCACCCTCCATGAAGGAGCTCAGGCCTCAAGGACCAATGGGGGACAGTGAGAGGCCTGAGAGTGACACCTGAGCCTAGGGGCCCAAAGGGAACCGTGGACACCGGGAGGTATCAGTACCAGTCACCCTGCCCCTCCCCCTGCTCACCTGCAGCACCTGAGAATTGTCACCCTGGACAGCATAATGGAAGACGGTCTCTCCCTTGTAGTCGGTGACATCCATCTGAGTGTGGCAGTACTGCACCAGCTCCACCAGGATCTCCCCATCACCCTTGCGGCAGGCCAGGTGCAGGGGTGTGCAGCCCTCCTCGTTCTCCGCGCAATTGGCACAGCTGCAGGAGAGGGCCAGGGTGAGCAGAGGTGAGCAGGTGTGGTACAAGGTGGCAGGGGGACCTAAGTGCACATGCAGGGAAGTGCACTCGGAAACTCGGACTTTCTGGTTTATTTGAGCTCAAGAGCATTCCCGCCACTCAGCTAGTTGGGCTGATTTGAATGTAATTATATCTGATGTGACCTGTATCAGGTTTCTGTTCAGTTTGCTCACTCGTACAAGAGATGGGCCCCAGGGCCACACCAGCAGGAAGTGGGCAGGGTGGTGGCACAGGAAAGGGTCACAGAACACGGATATCTCACTAGCCTCAGGCAATTCACTTAACCTTTCTGGGCGTCAATATCCTTATCGACACAAGCTGCTGTGCCTGCCCCAGGAAATGGACAGAGTGATGGTGAGATGAGACAGTGCTGTCCAAAAGCACGCCTGGAAACTAAAGTGCAGTGAGGGTTTTTGTTTTGTTTTGTTTTTTTGAGGTGGAGTTTCACTCTTGTTGCCCAGGCTGTAATGCAGTGACACAATCTCGGCTCACTGCAACCTCCGCCTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTTGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATACACCCGCCTCGGCCTCACAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGCAGTGAGGTTTTGAGTTCTGGGCCTGGGAGCTTAACTGAGCTATCTAGGATAGAGACTCAGAGGAGGTGTGGCTACCTCTGCACAAGATGGCCAACTGGTGCCCTGTGCAAGGGTGGGGACAGTGCCCTCACCAGGGGCAACAGCTGCTCCATCTGCTGGCTGAATGGATTCACAAAAGGAGGCCTTCAGCTTCCAGAAGAGCAGCCTGGGCAGACACCAAGGATCCAAGCCCCTCTTTCACCCTCTCTGGCTGAGTGACCTGCACAAGTCCTGTTAGCTCTCTCTAGAATGATGATACCTGGGCCGGGCATGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGAGGGCAGATCACCTGAGGTTAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAACACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTACCCGGGCATGATGGCACATTACTGTAATCCCAGCTATTCCGGAGGCTGAGGCAGGAGAATCACCTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAATAAGACTCCGTCTCAAAATAAAATAACATAACGTAACATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAGTAAAATAAAATGACGATACCTTGTGGGGGTTGGGAAAATTCAATTTCATGGTGGGTAGAAATCAGCTCCCACAGACCTGGCACCTGGTGAGCACTCCGGACTCTGGAAACATTACATTGTCCTTCTTACATTTTAATCTGGTAGCAACGCAGCACCTTTTTTTTTTTTTTTTTTTTTTTCCTAGAGACAAGGTCTCATTCTGTCACCCAGGCTGAAGTGCAGTGGTGCAATCATAGCTCACTGTAAACTCTAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCATCCCAAGTAGCTAGGAGTATAGACACATGCTAATTTTTTAATTTTTTCGTAGAGACAAGGTCTTGCTATTTTGCCAGGCTGGTCTTGAACTCCTAGTCTCAAGTGATCCTCCCTCCTCAGCCTCCCAAAGTGCTGGGACTGCGTTAGTGAGCGACCATGCC
|
AGCCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGTGGGAGGATCACCTGAGTCCAGGAGGTTGAGGCTGCAGTGAGCCACAATCACACCACTGCACTCCAGCCTGGGCGACAGAGCTAGATGCTGTCTCAAAAAAAAGAAAGTGCTAGGAGGGTTTTACTGTCTCACTTTTGGCTCAGTGCTGTCCCCATGAGGTTCATTACAACCACAGTGTACCCATGTGACACCAGGGTCACCTCACAGCAGTCCCACTGGACCTGAAGGCAGGCCAGAGACACAGCAGGAAGAGCAAAGGGCTGGCATCGAGGCCAATGTAAGGTCAAGCCCCACTCTCTCAGCTTTGTGGCCCTCCCTGGGCACGCTTCTTAATTAACAACACTGAACCTCAGTTTCTTCGGAGAGGAAAGGGGAATAATGACCTCCACCCCATGAGTGTATTCTAAGAATTAACTGGAACACATACAACACTCAGTTCAAGGTCAGGCACCAATCAGCACCGGATAAAGGACAGCTGCAGTCGTGCATGACTATCGAGAAGCGGGTGTGCACACCCCCGCATGGAGGCAGGGTCTGCGCGGCACCATGCTGGGTGCGCAGAGGATTCTCGGTGAAAGTGGAGTTCAACAGTGGGTGGAGAATTCCCTTCCCTGAGAGCAAGAAGCATAAGATATGAATCCACATTTTCTGGGCCGGGCACAGTGGCTCACACCTGTAATCCCGGCATTTTGGGAGGCTGAGGCAGGTGGATCACTTAAGGCCAGGAGTTGGAGACCAGCCTGGGCAACATGGCAAAACCCCATCCCTACTAAAAATACGGAAACTACCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCACGAGCATCACTTCAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGAGACATAGGGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAATCCACATTTTCTGGTATAACGTAGTTGCATTCTGATGCCAAGGCAGAGAGAACATGATCTTTAGAAGAATTTTCTAATTCTAGACAATAAAACATAATCCAACATCCTGCCTTTTCTGTTCAATCTAATATATGAAATAGCTATTTAATAGTATCACCCCATCTGCTTGCCCACAATTAAAAAATCACATCTTTTGCCCAGGTAATCAAAAACGTTAACAGGAGGGCCTCTGGCACAAATGCCTACAGGAACTGGAGACAGTTTGGTTTGCTTGGTTTGAATTCCTGTAAAATAGGGTTGTCCAATATTTTGGCCTCCCTGGGCCACATCAGAAGAATTGTCTTGGGTCACACATAAAATACATGAACGCTAACAACAGCTGATCTAAAAAAAAGGTCCATGCATGGATCTCATAATGTTTTAAGAAAGTTTGTGAATTTGTGTTGGGCCACATTCAAAGCCGTCCTGGGCTGCATGCAGCCTGCAGGGCCACAGATTGGACAAGCTTGCAAAAGGTTAAGCCCAGGTCCCGCTGGCCCACGAGCCCCTCCAGGCAGGCATCTGGCTCACAGTTTGTGCTCAGGAAAAGTGGAACTGAACTAACTGACTGGAGCTGGGCCTTTTTTGGGGTTTATTTTGCTGGGTTGGAGGCCGTCCCCAGGTTTATCAAGCAAAGAGACTGAGGACGTGGCTCCTGGAAAAGGGCTGGGAGGGAAGAGCCAGGGAGGGGTCTGCACCCTCCATGAAGGAGCTCAGGCCTCAAGGACCAATGGGGGACAGTGAGAGGCCTGAGAGTGACACCTGAGCCTAGGGGCCCAAAGGGAACCGTGGACACCGGGAGGTATCAGTACCAGTCACCCTGCCCCTCCCCCTGCTCACCTGCAGCACCTGAGAATTGTCACCCTGGACAGCATAATGGAAGACGGTCTCTCCCTTGTAGTCGGTGACATCCATCTGAGTGTGGCAGTACTGCACCAGCTCCACCAGGATCTCCCCATCACCCTTGCGGCAGGCCAGGTGCAGGGGTGTGCAGCCCTCCTCGTTCTCCGCGCCAATTGGCACAGCTGCAGGAGAGGGCCAGGGTGAGCAGAGGTGAGCAGGTGTGGTACAAGGTGGCAGGGGGACCTAAGTGCACATGCAGGGAAGTGCACTCGGAAACTCGGACTTTCTGGTTTATTTGAGCTCAAGAGCATTCCCGCCACTCAGCTAGTTGGGCTGATTTGAATGTAATTATATCTGATGTGACCTGTATCAGGTTTCTGTTCAGTTTGCTCACTCGTACAAGAGATGGGCCCCAGGGCCACACCAGCAGGAAGTGGGCAGGGTGGTGGCACAGGAAAGGGTCACAGAACACGGATATCTCACTAGCCTCAGGCAATTCACTTAACCTTTCTGGGCGTCAATATCCTTATCGACACAAGCTGCTGTGCCTGCCCCAGGAAATGGACAGAGTGATGGTGAGATGAGACAGTGCTGTCCAAAAGCACGCCTGGAAACTAAAGTGCAGTGAGGGTTTTTGTTTTGTTTTGTTTTTTTGAGGTGGAGTTTCACTCTTGTTGCCCAGGCTGTAATGCAGTGACACAATCTCGGCTCACTGCAACCTCCGCCTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTTGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATACACCCGCCTCGGCCTCACAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGCAGTGAGGTTTTGAGTTCTGGGCCTGGGAGCTTAACTGAGCTATCTAGGATAGAGACTCAGAGGAGGTGTGGCTACCTCTGCACAAGATGGCCAACTGGTGCCCTGTGCAAGGGTGGGGACAGTGCCCTCACCAGGGGCAACAGCTGCTCCATCTGCTGGCTGAATGGATTCACAAAAGGAGGCCTTCAGCTTCCAGAAGAGCAGCCTGGGCAGACACCAAGGATCCAAGCCCCTCTTTCACCCTCTCTGGCTGAGTGACCTGCACAAGTCCTGTTAGCTCTCTCTAGAATGATGATACCTGGGCCGGGCATGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGAGGGCAGATCACCTGAGGTTAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAACACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTACCCGGGCATGATGGCACATTACTGTAATCCCAGCTATTCCGGAGGCTGAGGCAGGAGAATCACCTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAATAAGACTCCGTCTCAAAATAAAATAACATAACGTAACATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAGTAAAATAAAATGACGATACCTTGTGGGGGTTGGGAAAATTCAATTTCATGGTGGGTAGAAATCAGCTCCCACAGACCTGGCACCTGGTGAGCACTCCGGACTCTGGAAACATTACATTGTCCTTCTTACATTTTAATCTGGTAGCAACGCAGCACCTTTTTTTTTTTTTTTTTTTTTTTCCTAGAGACAAGGTCTCATTCTGTCACCCAGGCTGAAGTGCAGTGGTGCAATCATAGCTCACTGTAAACTCTAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCATCCCAAGTAGCTAGGAGTATAGACACATGCTAATTTTTTAATTTTTTCGTAGAGACAAGGTCTTGCTATTTTGCCAGGCTGGTCTTGAACTCCTAGTCTCAAGTGATCCTCCCTCCTCAGCCTCCCAAAGTGCTGGGACTGCGTTAGTGAGCGACCATGC
|
pathogenic
| 327,107 |
Does the variant on chromosome 22 at location 38145543 affecting gene PLA2G6 (phospholipase A2 group VI) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Autosomal_recessive_Parkinson_disease_14', 'Infantile_neuroaxonal_dystrophy', 'Neurodegeneration_with_brain_iron_accumulation_2B', 'PLA2G6-associated_neurodegeneration']
|
GCTCACTCGTACAAGAGATGGGCCCCAGGGCCACACCAGCAGGAAGTGGGCAGGGTGGTGGCACAGGAAAGGGTCACAGAACACGGATATCTCACTAGCCTCAGGCAATTCACTTAACCTTTCTGGGCGTCAATATCCTTATCGACACAAGCTGCTGTGCCTGCCCCAGGAAATGGACAGAGTGATGGTGAGATGAGACAGTGCTGTCCAAAAGCACGCCTGGAAACTAAAGTGCAGTGAGGGTTTTTGTTTTGTTTTGTTTTTTTGAGGTGGAGTTTCACTCTTGTTGCCCAGGCTGTAATGCAGTGACACAATCTCGGCTCACTGCAACCTCCGCCTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTTGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATACACCCGCCTCGGCCTCACAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGCAGTGAGGTTTTGAGTTCTGGGCCTGGGAGCTTAACTGAGCTATCTAGGATAGAGACTCAGAGGAGGTGTGGCTACCTCTGCACAAGATGGCCAACTGGTGCCCTGTGCAAGGGTGGGGACAGTGCCCTCACCAGGGGCAACAGCTGCTCCATCTGCTGGCTGAATGGATTCACAAAAGGAGGCCTTCAGCTTCCAGAAGAGCAGCCTGGGCAGACACCAAGGATCCAAGCCCCTCTTTCACCCTCTCTGGCTGAGTGACCTGCACAAGTCCTGTTAGCTCTCTCTAGAATGATGATACCTGGGCCGGGCATGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGAGGGCAGATCACCTGAGGTTAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAACACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTACCCGGGCATGATGGCACATTACTGTAATCCCAGCTATTCCGGAGGCTGAGGCAGGAGAATCACCTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAATAAGACTCCGTCTCAAAATAAAATAACATAACGTAACATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAGTAAAATAAAATGACGATACCTTGTGGGGGTTGGGAAAATTCAATTTCATGGTGGGTAGAAATCAGCTCCCACAGACCTGGCACCTGGTGAGCACTCCGGACTCTGGAAACATTACATTGTCCTTCTTACATTTTAATCTGGTAGCAACGCAGCACCTTTTTTTTTTTTTTTTTTTTTTTCCTAGAGACAAGGTCTCATTCTGTCACCCAGGCTGAAGTGCAGTGGTGCAATCATAGCTCACTGTAAACTCTAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCATCCCAAGTAGCTAGGAGTATAGACACATGCTAATTTTTTAATTTTTTCGTAGAGACAAGGTCTTGCTATTTTGCCAGGCTGGTCTTGAACTCCTAGTCTCAAGTGATCCTCCCTCCTCAGCCTCCCAAAGTGCTGGGACTGCGTTAGTGAGCGACCATGCCAGGCCCTGCTCCTTTTTAAGTCAAACTATGGAGGGGAACCGAGGCCTGCGGCCCCCACTGCCCACACAAGCAGGTACACACACGTTGTCCAAATGGTCTTGTTCCCTTGCTCACCTGATGATACGGCTGTGATGGAAGCACTCGCGGATCCCTAGCTCCACAGCCAGGTGGGCCACTGACCAGCTGGGGTGGTTACGGATGAGGTCGGTCAGGTGCTGCAGGACCTCAGTGTGCAGGACCTGAGGGGAGCTCTCATAGAAGGGTAGCAGCTGGGAAGAATACTGATGGAAATTCACTAGGGCGTCAGCCTCCAACTCCAGCTGGAAGAGTCTGTAGAGCCAGGACAGAGGAGCAAGACCCGAAATGAGTAAGGCGGGACCCTCGGCCCACATCCCTGCTGGAATCAGAAGGTCCCCAGGCTGCGGCCTGGCCAGCTCCAGCCCGACTCCCCTCCCAAGCAAACACACACACACACACACACACACACACACACACACACACACACACACACCCCTATACACATGTAAATGACATAATGGCGTTTAGGTTAGACTTTCTTTGTTTTTTAGAGACAAGGTCTTGCTCTGTAACCCAGGCTGGGGTGCGGTGGTGTGATCATGACTCACTGCATCTTCGAATTCCTGGGCTGAAGGGATCCTCCTACCTTAGTTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTTTTTTTTTTGAGATAGAGTCTCATTTTGTCACCCAGGCTGGAGTGCAGTGTTGTAATCTCACCTCACTGCGACCTTCACCTCCCGGGTTCAAGCAATTCTCCTACCTCAGTCTCCAGAGTAGCTGGGATTAAAGGCGTGTGCTGCCACACCTGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTGGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCAATCCACCCCCCTCAGCCTCTCAAAGTGCTAGGATTTCAGGCACTAGCCACCGTGAGCCACTGTGCCTGGCCTAATTTTTTTTTATTTTTGTTGACAGGGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGTTCCTCCTGCCTCAGCCTCCAAAAGTACTGGGATTACAGGTGTGAGCCACTATGCTTGTCTAGATTTTCCTTTATTTTGAAAAACTTTCCTTTTCTTTGGTAATATCATTTATTATTTTTATATTTTATTTTACCACAGCCCTGCCATATCCACTTTCTAATTTCATTGCCACATGTGAGAGCTCCAGCCTCGAGTACTTGGCCCCTCTTCATAGTAGGAACTAAGTAAGTATTGTTTAACCTAAATGTACAGCAACAAAATATTATATAAATTATGGTATAACTATGTAATAAACTATTATGCAGTCATTAAAATGAGATATTTAAAAAAAGGGAAACTTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACTGCAGCCTCCATCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGAAGAGACAGAGTTTTGTCATGTTGGCCAGGCTGATCTTAAACTCCTGGCCTCAGGTGACCTGCCTGCCTGGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCCGGCCAGCTTTGTTCATTTTTAAGTGTTGAGGTTGAGTCCAAGTTTTGCTACTAAGGTGCTGTGTGATCTTGGGAAATCCTTTTCCCTCTCTGAGCCCCATTTGAAACATGAGACTAACTGTACCTGTCCTACCTACCTCCCAGAGGTGCTGTGAGGACAGATGAAAAACCACTATAAAAGCACTTTCAAAACCATAACCATTATATGTCAGTGATGGTTACTTAAAGTTCTGACCAGGGCTTTTAACATACCAAAAGGTTTTGTCTTGCATACCTCTACAAGCGCAGCAGCCAGCCAGAGTCTAGTGAAGGCAGTGCCCAGAGAGTGTTGGCTCAACGGGACCAGCCTGTTGTTCCACAGAGAGTGCGTTGATTAACAGTTAACTACTGGGCATGTGATCTGTGCCAAATGGAGGGGTCAATTAATGAACAATTGCATAAAATGCTCTGCCCTCCTGAAGCCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTACCCAGGCTGG
|
GCTCACTCGTACAAGAGATGGGCCCCAGGGCCACACCAGCAGGAAGTGGGCAGGGTGGTGGCACAGGAAAGGGTCACAGAACACGGATATCTCACTAGCCTCAGGCAATTCACTTAACCTTTCTGGGCGTCAATATCCTTATCGACACAAGCTGCTGTGCCTGCCCCAGGAAATGGACAGAGTGATGGTGAGATGAGACAGTGCTGTCCAAAAGCACGCCTGGAAACTAAAGTGCAGTGAGGGTTTTTGTTTTGTTTTGTTTTTTTGAGGTGGAGTTTCACTCTTGTTGCCCAGGCTGTAATGCAGTGACACAATCTCGGCTCACTGCAACCTCCGCCTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTTGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATACACCCGCCTCGGCCTCACAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGCAGTGAGGTTTTGAGTTCTGGGCCTGGGAGCTTAACTGAGCTATCTAGGATAGAGACTCAGAGGAGGTGTGGCTACCTCTGCACAAGATGGCCAACTGGTGCCCTGTGCAAGGGTGGGGACAGTGCCCTCACCAGGGGCAACAGCTGCTCCATCTGCTGGCTGAATGGATTCACAAAAGGAGGCCTTCAGCTTCCAGAAGAGCAGCCTGGGCAGACACCAAGGATCCAAGCCCCTCTTTCACCCTCTCTGGCTGAGTGACCTGCACAAGTCCTGTTAGCTCTCTCTAGAATGATGATACCTGGGCCGGGCATGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGAGGGCAGATCACCTGAGGTTAGGAGTTCGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAACACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTACCCGGGCATGATGGCACATTACTGTAATCCCAGCTATTCCGGAGGCTGAGGCAGGAGAATCACCTGAACCCAGGAGGCAGAGGGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAATAAGACTCCGTCTCAAAATAAAATAACATAACGTAACATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAGTAAAATAAAATGACGATACCTTGTGGGGGTTGGGAAAATTCAATTTCATGGTGGGTAGAAATCAGCTCCCACAGACCTGGCACCTGGTGAGCACTCCGGACTCTGGAAACATTACATTGTCCTTCTTACATTTTAATCTGGTAGCAACGCAGCACCTTTTTTTTTTTTTTTTTTTTTTTCCTAGAGACAAGGTCTCATTCTGTCACCCAGGCTGAAGTGCAGTGGTGCAATCATAGCTCACTGTAAACTCTAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCATCCCAAGTAGCTAGGAGTATAGACACATGCTAATTTTTTAATTTTTTCGTAGAGACAAGGTCTTGCTATTTTGCCAGGCTGGTCTTGAACTCCTAGTCTCAAGTGATCCTCCCTCCTCAGCCTCCCAAAGTGCTGGGACTGCGTTAGTGAGCGACCATGCCAGGCCCTGCTCCTTTTTAAGTCAAACTATGGAGGGGAACCGAGGCCTGCGGCCCCCACTGCCCACACAAGCAGGTACACACACGTTGTCCAAATGGTCTTGTTCCCTTGCTCACCTGATGATACGGCTGTGATGGAAGCACTCGCGGATCCCTAGCTCCACAGCCAGGTGGGCCACTGACCAGCTGGGGTGGTTACGGATGAGGTCGGTCAGGTGCTGCAGACCTCAGTGTGCAGGACCTGAGGGGAGCTCTCATAGAAGGGTAGCAGCTGGGAAGAATACTGATGGAAATTCACTAGGGCGTCAGCCTCCAACTCCAGCTGGAAGAGTCTGTAGAGCCAGGACAGAGGAGCAAGACCCGAAATGAGTAAGGCGGGACCCTCGGCCCACATCCCTGCTGGAATCAGAAGGTCCCCAGGCTGCGGCCTGGCCAGCTCCAGCCCGACTCCCCTCCCAAGCAAACACACACACACACACACACACACACACACACACACACACACACACACACCCCTATACACATGTAAATGACATAATGGCGTTTAGGTTAGACTTTCTTTGTTTTTTAGAGACAAGGTCTTGCTCTGTAACCCAGGCTGGGGTGCGGTGGTGTGATCATGACTCACTGCATCTTCGAATTCCTGGGCTGAAGGGATCCTCCTACCTTAGTTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTTTTTTTTTTGAGATAGAGTCTCATTTTGTCACCCAGGCTGGAGTGCAGTGTTGTAATCTCACCTCACTGCGACCTTCACCTCCCGGGTTCAAGCAATTCTCCTACCTCAGTCTCCAGAGTAGCTGGGATTAAAGGCGTGTGCTGCCACACCTGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTGGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCAATCCACCCCCCTCAGCCTCTCAAAGTGCTAGGATTTCAGGCACTAGCCACCGTGAGCCACTGTGCCTGGCCTAATTTTTTTTTATTTTTGTTGACAGGGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGTTCCTCCTGCCTCAGCCTCCAAAAGTACTGGGATTACAGGTGTGAGCCACTATGCTTGTCTAGATTTTCCTTTATTTTGAAAAACTTTCCTTTTCTTTGGTAATATCATTTATTATTTTTATATTTTATTTTACCACAGCCCTGCCATATCCACTTTCTAATTTCATTGCCACATGTGAGAGCTCCAGCCTCGAGTACTTGGCCCCTCTTCATAGTAGGAACTAAGTAAGTATTGTTTAACCTAAATGTACAGCAACAAAATATTATATAAATTATGGTATAACTATGTAATAAACTATTATGCAGTCATTAAAATGAGATATTTAAAAAAAGGGAAACTTTTCTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTGGAGTACAATGGCACGATCTCGGCTCACTGCAGCCTCCATCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGAAGAGACAGAGTTTTGTCATGTTGGCCAGGCTGATCTTAAACTCCTGGCCTCAGGTGACCTGCCTGCCTGGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACTGCGCCCGGCCAGCTTTGTTCATTTTTAAGTGTTGAGGTTGAGTCCAAGTTTTGCTACTAAGGTGCTGTGTGATCTTGGGAAATCCTTTTCCCTCTCTGAGCCCCATTTGAAACATGAGACTAACTGTACCTGTCCTACCTACCTCCCAGAGGTGCTGTGAGGACAGATGAAAAACCACTATAAAAGCACTTTCAAAACCATAACCATTATATGTCAGTGATGGTTACTTAAAGTTCTGACCAGGGCTTTTAACATACCAAAAGGTTTTGTCTTGCATACCTCTACAAGCGCAGCAGCCAGCCAGAGTCTAGTGAAGGCAGTGCCCAGAGAGTGTTGGCTCAACGGGACCAGCCTGTTGTTCCACAGAGAGTGCGTTGATTAACAGTTAACTACTGGGCATGTGATCTGTGCCAAATGGAGGGGTCAATTAATGAACAATTGCATAAAATGCTCTGCCCTCCTGAAGCCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTACCCAGGCTGGN
|
pathogenic
| 327,111 |
Variant in gene PLA2G6 (phospholipase A2 group VI), located at chromosome 22 position 38169229: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Infantile_neuroaxonal_dystrophy']
|
TCGCGTCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAACAAAAAATCCTGTAAACTATAAAGTACCACAGAATAGCTTACGTGTAGCTAAGAAGCTGCTGACAAAGGACTAAATCCTCCTGGGATGGAGGTCTGCCCACACTGGGGCTTAAGCTGGCTGAGACAAATCTGGAATCCTGTCAAGGGATTTTACAACTGACAGAACTTGGTGATTATTGGTACGTGGAGATTAGTGGTATCCCCAGGGCCGTGTACCTCAAAAGTGGGGCTGTCCAGCTCTCCAAGGAGTGGACCCGCTGCCCTGGTCAGCTGTGCCTGCAGTGGAGCTCTGAAGCTACAAGTGCAAGCCTGCCCCGTCCAGGGTCAGTCCTGATCGAGTCCAGCTGGAAGGCGGTCTGCTCAGCCCCATCTGCACTCAGAATCTGGAATGGCCCCACTGTATTAAAACTGGTGCCTGCACTGGCCACTGAGCTGCATTTAGCCCAAGCACCTGCTGTGGGTGCCTCTGCCTCAGGTTCCTTGTGGAGCCAGGCTCTGAATTCTCACCTGATTGGATGGGGCCCTGATACCTGCCTTGCTCTTCTGTTGGTGGCAGCCCCTGGCCCCCAGCCTGACACTTTCAGAGACCCCTCCTGCCATGCCTCTTTAGTCAGAATGAGTCCCCAGCTGCTTCCTTCAGCCTCACTCTCACCAAAGCCCTGCATGCACCTGGGATCCAACCAGAGCCACCTGCCTGCAGGCTCACACCTCCACACTTCTGCACGGCTGGAACGACCTTATCCATTTTGTTCTGCCACACAGGCTCCTCCTCACTCTTCCAGACGCAGAGTAGCTCTCAATCACCTCCTTGTGATCCACACTGTTTCCTAGGCTCTCCCTCTGTCACAGCACTCCTCAAGGGGTGCTATGACGCCTGTTTGCACCGGACCTCCCCCACCAGACTGTACGTTCCTTAAAGACACAGGACATGTTTGTCATCTCACAGGCCAGCCAGGACTGGCCCGAAGCCCAGGACTCTGGAGACACTGGAGGTGCTTGGTGCATGTTGAATGGATGGCTGACAGGACAGCCAGATGGATAGGTGAGCGGAAACAGGGATATCTGTCTGAGCCCAACTAGATGCCAGTCTGCCAAGCACTGCTGGGGCCTGCATTTGGAACCTTGGCTGCTTCTCCCCTTTTCCCAACCAGCTCTGCCGTTGGCCCGGTTCCCTCAGGCCTGTCCTGGCTTTTGAGCCTTCTCTTCAGGCCCAGGGGAGTCCCAGCATGCCCCAAGAGGCAACAGCTCTGTCCAGCCTTCCTAAGCAAACCCTGGGCAGCCCCTATGAGAACGGCCATGCCCTTAAAGAGCCAGGGCTAGGCCAGGTGCAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAACCCCGTCTCTGCTAAAAATACAAAAATCAGCTGGGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAACAAAAACCAAAACCAAAAATAAAGAGCCAGGGCTAAAGGTTCTCCCCATGGGCCTTATCTGATGTGGACACTCTCAGTCTCCCTGTCCTTCCTTCTTCCCTTTGTCCATATAGGTCGAGCCTCCAGGCCAGAAACAACCCAGGCTTCCATCCTCAGCCTCGTGCTGGGACACTGATGGGCCAGAAGTGTGGAGTCTCGGAAGCCCTTCCCTCTGGTCCAAGAGTACAGTCTCCCCTCTCTCCCACCCCTCTCCAGACCCCTCAGACAGAGACTCAAAGAAACTGCTTCTCGGCCAATAAGACCTCCAATCCGAGACGTGGGGGAGTGAAAGGAGAGAAGTATGTTCCCGCTGAGCATCACCCACCGGAATCCACTCTGTGAGTTCCTGGGGTTGACCAGGACGCAGTCCCAGGTGCGGTTGGGAGTGTTCTGGAACAGAATCAGCTGCCCTTCCTCCCGAACTCGGTCACTCGAGGTGTAGTCGGCCACAGCCACCTCCTTCACCCGGAATGGGTTAGAGAACAAGTTGGTGACGCCACTGAAGGTATTGACCAGGCGGCCAAAGAACTGCATCTTCTGCGGGGCAGGTGGGGAGGCCCCACCGTCTTCCCCCTCTGTCTGGAAGAAAACGAGGTCTCTGGTCAGCCAGGCACAGTCTCCCATGCCCATCTCACCCAGTGCAGCGGTTTCCTGCACAGACACCCAGATCACTCCCCACCAGCGTTGTCCCCAGATCCTGGGCCTGGAGGGATCTTAAAAGGAGGGGAAAGAAAGAGAAACAACACTGAGTGGGAGGTAAAAGTGACAGAACCCTCAGGCCAGGCTGGCTACCTAGAAGGCTGTCCCCCTGTGCTGCCACTGTGCACAGGTGACCTTAACTGCCTGCTTCCTGACCCAGTGTCCCAGCAGAGACTCAGTTTCCTCACCTGTAGTGTGTGGTATTGACCAAAGGAGATAGCACATGTGAACATACATTATAGGCAGTAATGCCCTGGGCAAATGGAGGGTTCTCACTAAATAAGTTACAGAGATAACCTTTCAGCACTCAAAGAGGCTAGTATGGACCAGACACAGTGGCTCAGGCATGTAATCCCAGCACTTCGAGAGGCTGAGGCGGGCGGATCATTTGAGGTCAGAAATTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGCCTCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGCAGGCGCCTGTAGTCCCAGCTGCCCGGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGATAGGGTGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGGCCAGCATGGATCATTTCACTTCCGCAAACAAAATCAATGTCCCCCCTCCTAGATACCAAAAGGTGACCAGCATCATGTCACACTCTATCGGAGCAAGGGGATCATCGGCATTGGTCTAAATCCTTTGTTTCCTGCTACCACAGGTTTCCCAAAGAGCTCCGAGAGACAGCACACAAAAGCAAGCTCCTTGGAAATGAACGAACTGCACCTTCTGCAGGGGCAGGTGGGGGAGCCCCTGCAGAAGATGCCATTCGAGACTCAGGAGCAGCAGTGTCTGGGTGGTAACTTTACGCTGCATATTCAGAGTCATAGTTTCTGCCATGGAAATTGTCCCCAGTGTTGATGATGGAATTAGATACCTTGTTATTTCCTAGGTTCCCAGAAAATACACTGCCTTCCTAAGGTACTGTCACCAAAGCCAGGCGCCAATCAGACGGAGGCCGCCCTCTGCCTCTGTGCCAAGATGTCACCAGACAAAAGACACTAAGGACAGAGTATGGGTGCCCTGGGGGAGAGAGGACATCTGAGTGGACACTGGGTCACAGCCACATTCTTCCCTGGCCTATGTGCTGAGCACAGGATCAACCCTGGGGACAGAAGGAAGACAAAAGCAAGGGGCCCACTAAGAGGCACATGAAAAGGAAAAAAGATCAATACTAATAATTATACCAACAAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGACTCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCTGAGATGGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGATCATAACAACTGAAGAAAAGTTCGCAGTGTCCCATTACAAGGCTCAGTGCCATCTCTCAATGATGTCTATCTGGAATGTTCTTCC
|
TCGCGTCACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAACAAAAAATCCTGTAAACTATAAAGTACCACAGAATAGCTTACGTGTAGCTAAGAAGCTGCTGACAAAGGACTAAATCCTCCTGGGATGGAGGTCTGCCCACACTGGGGCTTAAGCTGGCTGAGACAAATCTGGAATCCTGTCAAGGGATTTTACAACTGACAGAACTTGGTGATTATTGGTACGTGGAGATTAGTGGTATCCCCAGGGCCGTGTACCTCAAAAGTGGGGCTGTCCAGCTCTCCAAGGAGTGGACCCGCTGCCCTGGTCAGCTGTGCCTGCAGTGGAGCTCTGAAGCTACAAGTGCAAGCCTGCCCCGTCCAGGGTCAGTCCTGATCGAGTCCAGCTGGAAGGCGGTCTGCTCAGCCCCATCTGCACTCAGAATCTGGAATGGCCCCACTGTATTAAAACTGGTGCCTGCACTGGCCACTGAGCTGCATTTAGCCCAAGCACCTGCTGTGGGTGCCTCTGCCTCAGGTTCCTTGTGGAGCCAGGCTCTGAATTCTCACCTGATTGGATGGGGCCCTGATACCTGCCTTGCTCTTCTGTTGGTGGCAGCCCCTGGCCCCCAGCCTGACACTTTCAGAGACCCCTCCTGCCATGCCTCTTTAGTCAGAATGAGTCCCCAGCTGCTTCCTTCAGCCTCACTCTCACCAAAGCCCTGCATGCACCTGGGATCCAACCAGAGCCACCTGCCTGCAGGCTCACACCTCCACACTTCTGCACGGCTGGAACGACCTTATCCATTTTGTTCTGCCACACAGGCTCCTCCTCACTCTTCCAGACGCAGAGTAGCTCTCAATCACCTCCTTGTGATCCACACTGTTTCCTAGGCTCTCCCTCTGTCACAGCACTCCTCAAGGGGTGCTATGACGCCTGTTTGCACCGGACCTCCCCCACCAGACTGTACGTTCCTTAAAGACACAGGACATGTTTGTCATCTCACAGGCCAGCCAGGACTGGCCCGAAGCCCAGGACTCTGGAGACACTGGAGGTGCTTGGTGCATGTTGAATGGATGGCTGACAGGACAGCCAGATGGATAGGTGAGCGGAAACAGGGATATCTGTCTGAGCCCAACTAGATGCCAGTCTGCCAAGCACTGCTGGGGCCTGCATTTGGAACCTTGGCTGCTTCTCCCCTTTTCCCAACCAGCTCTGCCGTTGGCCCGGTTCCCTCAGGCCTGTCCTGGCTTTTGAGCCTTCTCTTCAGGCCCAGGGGAGTCCCAGCATGCCCCAAGAGGCAACAGCTCTGTCCAGCCTTCCTAAGCAAACCCTGGGCAGCCCCTATGAGAACGGCCATGCCCTTAAAGAGCCAGGGCTAGGCCAGGTGCAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAACCCCGTCTCTGCTAAAAATACAAAAATCAGCTGGGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAACAAAAACCAAAACCAAAAATAAAGAGCCAGGGCTAAAGGTTCTCCCCATGGGCCTTATCTGATGTGGACACTCTCAGTCTCCCTGTCCTTCCTTCTTCCCTTTGTCCATATAGGTCGAGCCTCCAGGCCAGAAACAACCCAGGCTTCCATCCTCAGCCTCGTGCTGGGACACTGATGGGCCAGAAGTGTGGAGTCTCGGAAGCCCTTCCCTCTGGTCCAAGAGTACAGTCTCCCCTCTCTCCCACCCCTCTCCAGACCCCTCAGACAGAGACTCAAAGAAACTGCTTCTCGGCCAATAAGACCTCCAATCCGAGACGTGGGGGAGTGAAAGGAGAGAAGTATGTTCCCGCTGAGCATCACCCACCGGAATCCACTCTGAGTTCCTGGGGTTGACCAGGACGCAGTCCCAGGTGCGGTTGGGAGTGTTCTGGAACAGAATCAGCTGCCCTTCCTCCCGAACTCGGTCACTCGAGGTGTAGTCGGCCACAGCCACCTCCTTCACCCGGAATGGGTTAGAGAACAAGTTGGTGACGCCACTGAAGGTATTGACCAGGCGGCCAAAGAACTGCATCTTCTGCGGGGCAGGTGGGGAGGCCCCACCGTCTTCCCCCTCTGTCTGGAAGAAAACGAGGTCTCTGGTCAGCCAGGCACAGTCTCCCATGCCCATCTCACCCAGTGCAGCGGTTTCCTGCACAGACACCCAGATCACTCCCCACCAGCGTTGTCCCCAGATCCTGGGCCTGGAGGGATCTTAAAAGGAGGGGAAAGAAAGAGAAACAACACTGAGTGGGAGGTAAAAGTGACAGAACCCTCAGGCCAGGCTGGCTACCTAGAAGGCTGTCCCCCTGTGCTGCCACTGTGCACAGGTGACCTTAACTGCCTGCTTCCTGACCCAGTGTCCCAGCAGAGACTCAGTTTCCTCACCTGTAGTGTGTGGTATTGACCAAAGGAGATAGCACATGTGAACATACATTATAGGCAGTAATGCCCTGGGCAAATGGAGGGTTCTCACTAAATAAGTTACAGAGATAACCTTTCAGCACTCAAAGAGGCTAGTATGGACCAGACACAGTGGCTCAGGCATGTAATCCCAGCACTTCGAGAGGCTGAGGCGGGCGGATCATTTGAGGTCAGAAATTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGCCTCTACTAAAAATACAAAAATTAGCCAGATGTGGTGGCAGGCGCCTGTAGTCCCAGCTGCCCGGGAAGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGATAGGGTGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAGGCCAGCATGGATCATTTCACTTCCGCAAACAAAATCAATGTCCCCCCTCCTAGATACCAAAAGGTGACCAGCATCATGTCACACTCTATCGGAGCAAGGGGATCATCGGCATTGGTCTAAATCCTTTGTTTCCTGCTACCACAGGTTTCCCAAAGAGCTCCGAGAGACAGCACACAAAAGCAAGCTCCTTGGAAATGAACGAACTGCACCTTCTGCAGGGGCAGGTGGGGGAGCCCCTGCAGAAGATGCCATTCGAGACTCAGGAGCAGCAGTGTCTGGGTGGTAACTTTACGCTGCATATTCAGAGTCATAGTTTCTGCCATGGAAATTGTCCCCAGTGTTGATGATGGAATTAGATACCTTGTTATTTCCTAGGTTCCCAGAAAATACACTGCCTTCCTAAGGTACTGTCACCAAAGCCAGGCGCCAATCAGACGGAGGCCGCCCTCTGCCTCTGTGCCAAGATGTCACCAGACAAAAGACACTAAGGACAGAGTATGGGTGCCCTGGGGGAGAGAGGACATCTGAGTGGACACTGGGTCACAGCCACATTCTTCCCTGGCCTATGTGCTGAGCACAGGATCAACCCTGGGGACAGAAGGAAGACAAAAGCAAGGGGCCCACTAAGAGGCACATGAAAAGGAAAAAAGATCAATACTAATAATTATACCAACAAGGCACGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGACTCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCTGAGATGGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGATCATAACAACTGAAGAAAAGTTCGCAGTGTCCCATTACAAGGCTCAGTGCCATCTCTCAATGATGTCTATCTGGAATGTTCTTCCNN
|
pathogenic
| 327,120 |
For chromosome 22, position 40301172, gene TNRC6B (trinucleotide repeat containing adaptor 6B): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
benign
|
GACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAACAAAAAAAAAAAAAAAACAAAACTGGGGAGGCAGGCAGAGCTGGGATTACAAACCCAGGCAGTCTGCCTCTAGAACTAAAGTCTTTTTTTTTTTTTTTTGAGATGGAATTTCACTCTTGTTGCCCATGCTGGAGTGCAATGGCACCATCTTGGCTCACCACAACCTCCGCCTCCCAGCTTGAGGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTGCATGTTGGTCAGGCTGGTCTTGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCTCTAAAGTCTTTTTTTAACCTTTTTATTTTTTTAAAGAGATGATAGCTCGCTATGTTGCCCAGGTGTTCTCAATCTCCTAGGCACAAGCTAGTCCCCCAAACTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCTAGGACTAAATTCTTGGCCATTGTGCTACACTACTTGGCACTCACGGACACGTTCTTAAGCTTGTTCTCCATGGCCCCAACTAGTCCAGTGGGTTCAGTAGATGAGGGTGCAGGGAAACTCACTTCTTCTTACTTAAATCATCTTAGAGGAGCAAACCAAAGATAGGAGGGAATCCTCTGTCGCCAGAGCTTCCTGCAGCCTCGCCTAGCTCACTCCTGAGAACAGGGAGAAGGACCCTGCCGGGTCAGTGACCTTCCAGGCTCTTTGATGCTGGCTCTTTTTTTACACTGCCACTCTGTGGGTGTTTGCTATCAGAAGCCATGCATTGAAACTCATGTCTTCTATTTACAAGTTAATATATTTGTCTTACTTGTAGCACAGAAATACTTTCACGTAAGTATTATTTATTAGCTTTATGCAATGTAGCATGTTTTGTTTTATGGCACATTTCCAGTAATAATTTCTTGGTTGGATAAAAGCCATATTGTCATCAATTTTTTTTTCTTGAAGATGTTTTCCTGAATATAAAATTTATACTTTTTATTGTAGAAAATTGGAAAGTCTAAGAAGAAAATTTAAAAACTGTTGTAATCTCACTGCTCCAAGATAATCATTGTTAACCCTTGAGTGTATTTTTCCTGTTATATATTTTTCACAGAAAAGTTTGACAACTCTTGCTTTAGATTCATCAAGATTCTTTTCACAGAAAAACAGTTTTATTTTGATAAATTCTGAAGATTCCTTTTCTTTTCTTTCTTTTTTATTTTTTTGGCTAGGTTTCTGCCTCAATGCTCAAGCAGTTTCCCAACAGTGGCCTGAGTCCAGGTCTTTTCAATGTGGGGCCCCAGTTATCTCCTCAACAAATTGCCATGCTGAGCCAGCTTCCACAAATTCCCCAGTTTCAGTTGGTAAGTAGAAGATTTTCTTCCTGTGGCTAAAAAGGTCATTTGCTTTTTTTTTTTCTTTAGCTTTGATTTGCTTCCCACATCTTTGCCACTTTCTATGTTCAAAGGGTGCTAGTCCACACTTCTTTGCAAACTATGGAGTGTGCTTAAGGGTTGTCAGCTCAACTGGAGGAAAATGTAACCAAGAGACCGGGAATTTGGTGTTACTTCCCTCCTGGATACTTTTGATTGTGTGACCTGTACTTCAGTGCACAGACCCTTTAGGTGTCCTCAGTAAATCAATCTCAGGAAACTTTGGTTTTCTGTCTTTCCCCCTTGTTTTGTAGGCATGTCAGCTTCTCTTGCAGCAGCAGCAACAGCAGCAGTTGTTACAGAACCAGAGAAAGATTTCTCAAGCTGTACGCCAACAGCAAGAGCAGCAGGTACGTGGGTAGGCAGGGTCCCTCCAGTGCTGTGTTGGAGGAGTACATCCCGGCTTAGCCTCTGATGGCAAAGAACCGGGCACAGTCTTTTCCTGGGAAGTTCGGGGCCGTGCTTATCACGTGTCTGTCTCTCTTGGCCCTCAGCTGGCTCGAATGGTGAGTGCACTGCAGCAGCAGCAGCAGCAGCAGCAGAGGCAGCCAGGCATGAAGCACTCGCCCTCTCATCCTGTTGGGCCCAAGCCGCATCTGGACAACATGGTACCCAACGCATTGAATGTGGGGCTCCCAGACCTTCAAACCAAAGGGCCAATACCTGGATATGGTTCTGGTAAGTTGTTGGTAGAGAAAATTACCTTTTTAGAAATCTACCTCTCTAGGCCTGTGGTAGGGGTTGCACCTGCATTACCCTCCTTTTTTATGTCAGCTGTACAAGGTAGGTAAATATTCTTATCCCTGGTTTACAGATGAGACATCTGAGGCTTCTTGAGTTTCAGTGGGTTTCCAGAGCTCACCACATGGTTACTAAATAGCAGAGCCAGGCCTCTAACTTCTCTGGCTCCAAAGCAGTCTTCCTTTTTTTTGTGTGTGTGTGTGTGTCTGGTTTATTTTATTTAACACAGTAAAGGCTCATACATGCTATAGCACATATCAGAATTCATCCCTTTCTAAGGCTGGGTAATACTCCATTGTGCAGATATACCACAGTGTGTTTACCCACTTTTCTGCTGAAATGGATAAACTTGGATTGTTTCCACCTTTTAACTACAAGTTGAGCATCCCCTAATCTAAAAATCCAAAATGCCCCAAAATCTGAAACTTTTTGATCACCAGCATGAAGCCAGCAGTCTTTCAATACGTGTGTATGAATGGCAAACTGCTCTCCTACCGCCGGGAATTTTTAAAACCCTATTTAAATGCTTGTGCATGCTGTGAGTGGTACACATGGCTGAGGTTATGATCTGTTAAAATATGTACTAGTTTGAAATGTTTTAGTGTACTCATATTAATAAAATTGCCTTCTATAGAAAAAATGAACTAAAATTATAGTGCAGATTGATAAAAATTCATTTGATATTAGTATTTCATCTGATTTAAATAGAATTAGAACAAGTAAGGTTATGCCTTTAACATTCTTCAAGAATTTTTTGGCAGGCAAATCATAGCTCTTTCAGAACTGGAAAACATGCTGTAAGCAGAATCTAATTGGTGAGGAAACAGTGATTTCAAAACAAAATTTTAAAATGGAAAAGATACCACACACCATCATAGTTTCATCTCAAACTGACAACATTTAGAATTTATCTTCTAAAGAAGATACTGTTCTACGCACACTCAAAAAACGAGTTGGGCCGCGCGCGGTGACTCACACCTGTAATCCCAGCCCCTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAATGTAGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCGGACGTTGTGGCATGCGCCTCTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGACGGAGGTTGCAGTGAGCTGAGATTGTGCCCCTGCACTCCCACCTGGGTGATAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAGAGTTGGGAAGACATGAAATTGCTGGTTCTAGGTGACAGTGTGACCCTGGACAAATGGCAGCGGCTGACTGTGCGCCAACCCCGTGATCCTCCTACTGCACGTGCAGGGGGTGAGCAAAGACTTCAAGGTGTTCTTGATCTTGATCTGGATATTTTAACGGAATTACTTTGTAGATCCTTAGCTTCCACCAACTGTTTTCATTCTTAAAGATGATCTGCCTGATAACTGACTTAAATTCGAAATAACTTTTCTTGCACTTGATATAGAAGAAGGTCAGCTCTGTGCTCATCTGGGCTGCAAAACACCAGGGTACCAAACATGGCGGGGCCTCCCTTGATTACTAACAAAGGTGTCCTTATGCTGTATTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTCGCCCAACCTCCACCTCCCACAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGATGGGATTACAGGCACATGCCACCACTCCCAGCTAATTTTTGTATAGTAGAGATGGGGT
|
GACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAACAAAAAAAAAAAAAAAACAAAACTGGGGAGGCAGGCAGAGCTGGGATTACAAACCCAGGCAGTCTGCCTCTAGAACTAAAGTCTTTTTTTTTTTTTTTTGAGATGGAATTTCACTCTTGTTGCCCATGCTGGAGTGCAATGGCACCATCTTGGCTCACCACAACCTCCGCCTCCCAGCTTGAGGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTGCATGTTGGTCAGGCTGGTCTTGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCTCTAAAGTCTTTTTTTAACCTTTTTATTTTTTTAAAGAGATGATAGCTCGCTATGTTGCCCAGGTGTTCTCAATCTCCTAGGCACAAGCTAGTCCCCCAAACTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCTAGGACTAAATTCTTGGCCATTGTGCTACACTACTTGGCACTCACGGACACGTTCTTAAGCTTGTTCTCCATGGCCCCAACTAGTCCAGTGGGTTCAGTAGATGAGGGTGCAGGGAAACTCACTTCTTCTTACTTAAATCATCTTAGAGGAGCAAACCAAAGATAGGAGGGAATCCTCTGTCGCCAGAGCTTCCTGCAGCCTCGCCTAGCTCACTCCTGAGAACAGGGAGAAGGACCCTGCCGGGTCAGTGACCTTCCAGGCTCTTTGATGCTGGCTCTTTTTTTACACTGCCACTCTGTGGGTGTTTGCTATCAGAAGCCATGCATTGAAACTCATGTCTTCTATTTACAAGTTAATATATTTGTCTTACTTGTAGCACAGAAATACTTTCACGTAAGTATTATTTATTAGCTTTATGCAATGTAGCATGTTTTGTTTTATGGCACATTTCCAGTAATAATTTCTTGGTTGGATAAAAGCCATATTGTCATCAATTTTTTTTTCTTGAAGATGTTTTCCTGAATATAAAATTTATACTTTTTATTGTAGAAAATTGGAAAGTCTAAGAAGAAAATTTAAAAACTGTTGTAATCTCACTGCTCCAAGATAATCATTGTTAACCCTTGAGTGTATTTTTCCTGTTATATATTTTTCACAGAAAAGTTTGACAACTCTTGCTTTAGATTCATCAAGATTCTTTTCACAGAAAAACAGTTTTATTTTGATAAATTCTGAAGATTCCTTTTCTTTTCTTTCTTTTTTATTTTTTTGGCTAGGTTTCTGCCTCAATGCTCAAGCAGTTTCCCAACAGTGGCCTGAGTCCAGGTCTTTTCAATGTGGGGCCCCAGTTATCTCCTCAACAAATTGCCATGCTGAGCCAGCTTCCACAAATTCCCCAGTTTCAGTTGGTAAGTAGAAGATTTTCTTCCTGTGGCTAAAAAGGTCATTTGCTTTTTTTTTTTCTTTAGCTTTGATTTGCTTCCCACATCTTTGCCACTTTCTATGTTCAAAGGGTGCTAGTCCACACTTCTTTGCAAACTATGGAGTGTGCTTAAGGGTTGTCAGCTCAACTGGAGGAAAATGTAACCAAGAGACCGGGAATTTGGTGTTACTTCCCTCCTGGATACTTTTGATTGTGTGACCTGTACTTCAGTGCACAGACCCTTTAGGTGTCCTCAGTAAATCAATCTCAGGAAACTTTGGTTTTCTGTCTTTCCCCCTTGTTTTGTAGGCATGTCAGCTTCTCTTGCAGCAGCAGCAACAGCAGCAGTTGTTACAGAACCAGAGAAAGATTTCTCAAGCTGTACGCCAACAGCAAGAGCAGCAGGTACGTGGGTAGGCAGGGTCCCTCCAGTGCTGTGTTGGAGGAGTACATCCCGGCTTAGCCTCTGATGGCAAAGAACCGGGCACAGTCTTTTCCTGGGAAGTTCGGGGCCGTGCTTATCACGTGTCTGTCTCTCTTGGCCCTCAGCTGGCTCGAATGGTGAGTGCACTGCAGCAGCAGCAGCAGCAGCAGCAGCAGAGGCAGCCAGGCATGAAGCACTCGCCCTCTCATCCTGTTGGGCCCAAGCCGCATCTGGACAACATGGTACCCAACGCATTGAATGTGGGGCTCCCAGACCTTCAAACCAAAGGGCCAATACCTGGATATGGTTCTGGTAAGTTGTTGGTAGAGAAAATTACCTTTTTAGAAATCTACCTCTCTAGGCCTGTGGTAGGGGTTGCACCTGCATTACCCTCCTTTTTTATGTCAGCTGTACAAGGTAGGTAAATATTCTTATCCCTGGTTTACAGATGAGACATCTGAGGCTTCTTGAGTTTCAGTGGGTTTCCAGAGCTCACCACATGGTTACTAAATAGCAGAGCCAGGCCTCTAACTTCTCTGGCTCCAAAGCAGTCTTCCTTTTTTTTGTGTGTGTGTGTGTGTCTGGTTTATTTTATTTAACACAGTAAAGGCTCATACATGCTATAGCACATATCAGAATTCATCCCTTTCTAAGGCTGGGTAATACTCCATTGTGCAGATATACCACAGTGTGTTTACCCACTTTTCTGCTGAAATGGATAAACTTGGATTGTTTCCACCTTTTAACTACAAGTTGAGCATCCCCTAATCTAAAAATCCAAAATGCCCCAAAATCTGAAACTTTTTGATCACCAGCATGAAGCCAGCAGTCTTTCAATACGTGTGTATGAATGGCAAACTGCTCTCCTACCGCCGGGAATTTTTAAAACCCTATTTAAATGCTTGTGCATGCTGTGAGTGGTACACATGGCTGAGGTTATGATCTGTTAAAATATGTACTAGTTTGAAATGTTTTAGTGTACTCATATTAATAAAATTGCCTTCTATAGAAAAAATGAACTAAAATTATAGTGCAGATTGATAAAAATTCATTTGATATTAGTATTTCATCTGATTTAAATAGAATTAGAACAAGTAAGGTTATGCCTTTAACATTCTTCAAGAATTTTTTGGCAGGCAAATCATAGCTCTTTCAGAACTGGAAAACATGCTGTAAGCAGAATCTAATTGGTGAGGAAACAGTGATTTCAAAACAAAATTTTAAAATGGAAAAGATACCACACACCATCATAGTTTCATCTCAAACTGACAACATTTAGAATTTATCTTCTAAAGAAGATACTGTTCTACGCACACTCAAAAAACGAGTTGGGCCGCGCGCGGTGACTCACACCTGTAATCCCAGCCCCTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAATGTAGTGAAACCCTGTCCCTACTAAAAATACAAAAATTAGCCGGACGTTGTGGCATGCGCCTCTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGACGGAGGTTGCAGTGAGCTGAGATTGTGCCCCTGCACTCCCACCTGGGTGATAGAGCAAGACCCCATCTCAAAAAAAAAAAAAAAAAAAGAGTTGGGAAGACATGAAATTGCTGGTTCTAGGTGACAGTGTGACCCTGGACAAATGGCAGCGGCTGACTGTGCGCCAACCCCGTGATCCTCCTACTGCACGTGCAGGGGGTGAGCAAAGACTTCAAGGTGTTCTTGATCTTGATCTGGATATTTTAACGGAATTACTTTGTAGATCCTTAGCTTCCACCAACTGTTTTCATTCTTAAAGATGATCTGCCTGATAACTGACTTAAATTCGAAATAACTTTTCTTGCACTTGATATAGAAGAAGGTCAGCTCTGTGCTCATCTGGGCTGCAAAACACCAGGGTACCAAACATGGCGGGGCCTCCCTTGATTACTAACAAAGGTGTCCTTATGCTGTATTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCACTCTGTCGCCCAACCTCCACCTCCCACAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGATGGGATTACAGGCACATGCCACCACTCCCAGCTAATTTTTGTATAGTAGAGATGG
|
benign
| 327,249 |
Clinically, how would you classify the variant at chromosome 22, position 40358822, gene ADSL (adenylosuccinate lyase): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
benign
|
TTGAGGCTACAGTGAGCTGTGATTATACCAGCGTGTGCCAGCCTGGGGTGACAGAGTGAGACCCTGTCTCAAAAAAGAAAGAAATTGGACATTAGGGCAACTTATTCATAATTATATATTTTGTTTTTTTGTTTTGTTTTGAGACAGAGTCTCACTCTGTCACCTAGATTGGGGTACAGTGGTGTGATCTCAGCTCACTGCAGCCTCAGCTTCCCGGATTCAAGTGATTCTCCCACCTCAGCCTCCCAAGTACCTGGGATTACAGGTGTGCACCACCACACTTGGCCAGTTTTTGTATTTTTTGTAGAAACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCTTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGACACCGCACCTGGCCTCGTAATTATGTTTTATGTTCAGAAACAGACCTTCAGTGGCTTGATTTGGGCTTTTTTTTTTTTTTTTTTTTTTTGACATGGAGTTTCGCTTTTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACCGCAGCCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCGAGTAGCTAGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCTGTGTTGGTCAGGCTGGTCTCAAACTCCCGATCTCAGGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCATGGCACCCTACTTTGATTTAGGCTTAATGCTGGAAACAAAGCCATTAGCTGCTGTGTTTGAGTCCTCTGGTTATGTGTGTTGTGTAGCTGTTCTCCATAGCATGACTATTCCTCACTGGATCTTGACTCCTCACAAAGGCTTTCCTCTACTTCCAATCTAGAGCAGCCATCACCATTACCTTCATCGTTCTTTTATTCTTTTAGCACTTAAAATCTCAATAATTAATCTTGTTTCTTTTTTTTCATTTGTTTTTTTGAGACAGAATCTGGCTGTGTCGCCCAGTGCGGTGTCACAGTCTCGGCTCATTGCAACCTCTGCCTCTCAGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAACACCCGCCACCACGCCCAGTTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTTACCTGTCTCTGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCCCCCGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCCTAATCTTGTTTTGTTTTCTTTTTTTACTCGTTTACAATGTAAGCAAGTGCCACTGGACAAGGACCCTGTCTGTGTTATTCCTTGTTGTATTTCCAATAGTAAGAGTACATCAGATACTTGGCAAATATTACACGAGTATCTAATGTATTTCTTACCAATGTCTGTGGATATAGCCATGAACAAAAGGGACATTGTCCCTGCCCTTATAATAAATTGTCTCTTGCCGTGCATCACAGTGGTTCATGCCTGTAATCCCAACACTTTGGAAGGCTGAAGTAGGTGGATCGCTTGAGACATAGAGTTTGAGACCAGCCTGAGCAACAAAGTGAGACCCCGTCACTACAAAAAATTTAAAAATTAGCCAGGCATGGTATTGCATGCCTGTGGTCCCAGCTACATGGAAGGCTGAGGCAGAAGGATCACTTGAGCTCCAGAGGTCGAGGCTACAGTCAGCTATGTTCATGCCACTGCACTTCAGCTTGGGCAACAGAGCAAGACCCAGTCTAGAAATAATAATAATTTAAAAATTGCCTCTTGATGAAGAAAGTACTATGCTAATCGCCTTTTAGTTTCATACTCCTTGACTATTTGTAAATGACATTGAATCTCCGTAACGATTATTTGGTTAAACATTTTATCTCTTGTTTTATCTTTACCAGTTACTCCCTCTCTTACTTAAATTGTTCTCCCTCCAAGGGGTAATGGTGGTTATTAAAAGAAGCAATGAAACCTTGATGATTTAAGGTCTCGGTCTGAGACTTTCGTGTGTTCTCTTTGGGTTTTCAGGCCTGCACAGCTGACCACAGTTGGGAAACGTTGCTGTCTTTGGATTCAGGATCTTTGCATGGATCTCCAGAACTTGAAGCGTGTCCGAGATGACCTGCGCTTCCGGGGAGTAAAGGGTACCACTGGCACTCAGGCCAGTTTCCTGCAGCTCTTTGAGGGAGATGACCATAAGGTATTCTGAAAGTGACCTGCAGGACACAGAAACTCAATGGTGGAGCCTAAGAGACAAGGCTGCCTTTGAGGATGATAGGAGAGATTGACTGTGGGATGGGTGGGGTCTTTCGACTAGAAGGAAGTTGTGGGGGTTAGGGAGCGAGACCTGGGTAGGATGACAGGTTGAGGCATTCTCACACTGGACACATGGATTATTATAAGGATGTGTCTTTTCTTTCCAAGGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGATTTAAGAGGTAGGTAAATGGGAATGTGTTGGCCTCCCTGTTAAGTTGATGGAAGTCCTATATTCAGTATACCTGCAGATTTGACCTTACAATTTTTGCCTTTTTCTTCCTTTGTTCTTCTACCCATTTTTTTTTTTCCTGTCTCTATCCTGGGTTTTACTTTCTTACTATCTGGATTCTTTTTTTTTTTTTTTTTTTTTCGCCTAATCGTCTTGCTGACATATTTTCTGGATTTCATTTTATTTTATTATTGTTTTTGAGACAGGGTCTTACTCTGTCACCCAGGCTGGAGTGCAGCGGTGTGATCTCGGCTCACGGCAGCCTCCGCCTCCCAGTTTCAAGCAGTCCTTCCACCTAAGCCCCCTGTGACTACAGGCATGCCTGGCTAATTTTTGTATTGTTTTTGTATAATTTTTGTATTGTTTTGTAGAGACCATGTTGCCCAGGCTGGTCTCCAACTCCTGAGATCAAGCGATCCACCTGCCTCAGCCTCAAAGTGCTAGGATTATAGGCATGAGCCACCATGCCTGACCTGCATTCTCTTTTTGTATAATCTATAGGAAAAAAGAAAATGATTTACTTCTGGTTTCTTTAGAATACCTTTATCCATGTTGTTACCATTTTTGTTTCTTTACTTAGGGCCCCCAACAGGTTAGGCTAAATCTGACCATTTCCATTGAGGTCCACCAGGTTCCACCATGGCTCCTTCTCCCAGGCATTTCTATTGGGCTGTGGCCAGACATGGGCACGTTGCACCATGTATCCTTCTTGAGTCAGGCCATTGTCCTGAGTATTAGTGAAAAGGGTGGAAGAATAGTTTATTCCAGGAGCAAGTTACCACTCAGGTCCACTGGTTGAGTATAACTTAGCATACCAATAAGACCAAGCTTTTCTTTAGGATGTGTTTTTCCTTGTTTGACAGAGTCATGTTTTGAATTATTATTATTTTATAAGAGTCTCCCAGTGATGCTTAGGCTGGCCTTAACCTCCTGAGTTAAAGCAGTCCTCCTCCGTTAGCCTCCTAAGTAGCTGGGACTACAGTCATGCACCACTGCAATGGCTTTAAAATATTTTAACCTAAGTCTCTCTTGTACTTATTCCTAGAGCTTTCATCATCACAGGGCAGACATATACACGAAAAGTGGATATTGAAGTACTGTCTGTGCTGGCTAGCTTGGGGGCATCAGTGCACAAGGTGAGTGGTGGCAGCATGTGGGGTGGGGACAGGAGCTTTGGGCACCACAGACAGACTGAATTAACCTCAGACTTTTACTTAACCATCTCTCTCAAGCAATATTTTACATTAGTTTTAATAATTTGTGGTCTGTAAATGAAACCCTTAAGGGGAAGACTCGTTTTGGCATTTTCTTTAAAGTTATCTCAAGCACTGCAAAACATCCATCTTGTTCAGTGGTATATTAAATTAATCTTTTTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGCGAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACAATGTC
|
TTGAGGCTACAGTGAGCTGTGATTATACCAGCGTGTGCCAGCCTGGGGTGACAGAGTGAGACCCTGTCTCAAAAAAGAAAGAAATTGGACATTAGGGCAACTTATTCATAATTATATATTTTGTTTTTTTGTTTTGTTTTGAGACAGAGTCTCACTCTGTCACCTAGATTGGGGTACAGTGGTGTGATCTCAGCTCACTGCAGCCTCAGCTTCCCGGATTCAAGTGATTCTCCCACCTCAGCCTCCCAAGTACCTGGGATTACAGGTGTGCACCACCACACTTGGCCAGTTTTTGTATTTTTTGTAGAAACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCTTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGACACCGCACCTGGCCTCGTAATTATGTTTTATGTTCAGAAACAGACCTTCAGTGGCTTGATTTGGGCTTTTTTTTTTTTTTTTTTTTTTTGACATGGAGTTTCGCTTTTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACCGCAGCCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCGAGTAGCTAGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCTGTGTTGGTCAGGCTGGTCTCAAACTCCCGATCTCAGGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCATGGCACCCTACTTTGATTTAGGCTTAATGCTGGAAACAAAGCCATTAGCTGCTGTGTTTGAGTCCTCTGGTTATGTGTGTTGTGTAGCTGTTCTCCATAGCATGACTATTCCTCACTGGATCTTGACTCCTCACAAAGGCTTTCCTCTACTTCCAATCTAGAGCAGCCATCACCATTACCTTCATCGTTCTTTTATTCTTTTAGCACTTAAAATCTCAATAATTAATCTTGTTTCTTTTTTTTCATTTGTTTTTTTGAGACAGAATCTGGCTGTGTCGCCCAGTGCGGTGTCACAGTCTCGGCTCATTGCAACCTCTGCCTCTCAGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAACACCCGCCACCACGCCCAGTTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTTACCTGTCTCTGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAAGTGATCCCCCCGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCCTAATCTTGTTTTGTTTTCTTTTTTTACTCGTTTACAATGTAAGCAAGTGCCACTGGACAAGGACCCTGTCTGTGTTATTCCTTGTTGTATTTCCAATAGTAAGAGTACATCAGATACTTGGCAAATATTACACGAGTATCTAATGTATTTCTTACCAATGTCTGTGGATATAGCCATGAACAAAAGGGACATTGTCCCTGCCCTTATAATAAATTGTCTCTTGCCGTGCATCACAGTGGTTCATGCCTGTAATCCCAACACTTTGGAAGGCTGAAGTAGGTGGATCGCTTGAGACATAGAGTTTGAGACCAGCCTGAGCAACAAAGTGAGACCCCGTCACTACAAAAAATTTAAAAATTAGCCAGGCATGGTATTGCATGCCTGTGGTCCCAGCTACATGGAAGGCTGAGGCAGAAGGATCACTTGAGCTCCAGAGGTCGAGGCTACAGTCAGCTATGTTCATGCCACTGCACTTCAGCTTGGGCAACAGAGCAAGACCCAGTCTAGAAATAATAATAATTTAAAAATTGCCTCTTGATGAAGAAAGTACTATGCTAATCGCCTTTTAGTTTCATACTCCTTGACTATTTGTAAATGACATTGAATCTCCGTAACGATTATTTGGTTAAACATTTTATCTCTTGTTTTATCTTTACCAGTTACTCCCTCTCTTACTTAAATTGTTCTCCCTCCAAGGGGTAATGGTGGTTATTAAAAGAAGCAATGAAACCTTGATGATTTAAGGGGTCTGAGACTTTCGTGTGTTCTCTTTGGGTTTTCAGGCCTGCACAGCTGACCACAGTTGGGAAACGTTGCTGTCTTTGGATTCAGGATCTTTGCATGGATCTCCAGAACTTGAAGCGTGTCCGAGATGACCTGCGCTTCCGGGGAGTAAAGGGTACCACTGGCACTCAGGCCAGTTTCCTGCAGCTCTTTGAGGGAGATGACCATAAGGTATTCTGAAAGTGACCTGCAGGACACAGAAACTCAATGGTGGAGCCTAAGAGACAAGGCTGCCTTTGAGGATGATAGGAGAGATTGACTGTGGGATGGGTGGGGTCTTTCGACTAGAAGGAAGTTGTGGGGGTTAGGGAGCGAGACCTGGGTAGGATGACAGGTTGAGGCATTCTCACACTGGACACATGGATTATTATAAGGATGTGTCTTTTCTTTCCAAGGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGATTTAAGAGGTAGGTAAATGGGAATGTGTTGGCCTCCCTGTTAAGTTGATGGAAGTCCTATATTCAGTATACCTGCAGATTTGACCTTACAATTTTTGCCTTTTTCTTCCTTTGTTCTTCTACCCATTTTTTTTTTTCCTGTCTCTATCCTGGGTTTTACTTTCTTACTATCTGGATTCTTTTTTTTTTTTTTTTTTTTTCGCCTAATCGTCTTGCTGACATATTTTCTGGATTTCATTTTATTTTATTATTGTTTTTGAGACAGGGTCTTACTCTGTCACCCAGGCTGGAGTGCAGCGGTGTGATCTCGGCTCACGGCAGCCTCCGCCTCCCAGTTTCAAGCAGTCCTTCCACCTAAGCCCCCTGTGACTACAGGCATGCCTGGCTAATTTTTGTATTGTTTTTGTATAATTTTTGTATTGTTTTGTAGAGACCATGTTGCCCAGGCTGGTCTCCAACTCCTGAGATCAAGCGATCCACCTGCCTCAGCCTCAAAGTGCTAGGATTATAGGCATGAGCCACCATGCCTGACCTGCATTCTCTTTTTGTATAATCTATAGGAAAAAAGAAAATGATTTACTTCTGGTTTCTTTAGAATACCTTTATCCATGTTGTTACCATTTTTGTTTCTTTACTTAGGGCCCCCAACAGGTTAGGCTAAATCTGACCATTTCCATTGAGGTCCACCAGGTTCCACCATGGCTCCTTCTCCCAGGCATTTCTATTGGGCTGTGGCCAGACATGGGCACGTTGCACCATGTATCCTTCTTGAGTCAGGCCATTGTCCTGAGTATTAGTGAAAAGGGTGGAAGAATAGTTTATTCCAGGAGCAAGTTACCACTCAGGTCCACTGGTTGAGTATAACTTAGCATACCAATAAGACCAAGCTTTTCTTTAGGATGTGTTTTTCCTTGTTTGACAGAGTCATGTTTTGAATTATTATTATTTTATAAGAGTCTCCCAGTGATGCTTAGGCTGGCCTTAACCTCCTGAGTTAAAGCAGTCCTCCTCCGTTAGCCTCCTAAGTAGCTGGGACTACAGTCATGCACCACTGCAATGGCTTTAAAATATTTTAACCTAAGTCTCTCTTGTACTTATTCCTAGAGCTTTCATCATCACAGGGCAGACATATACACGAAAAGTGGATATTGAAGTACTGTCTGTGCTGGCTAGCTTGGGGGCATCAGTGCACAAGGTGAGTGGTGGCAGCATGTGGGGTGGGGACAGGAGCTTTGGGCACCACAGACAGACTGAATTAACCTCAGACTTTTACTTAACCATCTCTCTCAAGCAATATTTTACATTAGTTTTAATAATTTGTGGTCTGTAAATGAAACCCTTAAGGGGAAGACTCGTTTTGGCATTTTCTTTAAAGTTATCTCAAGCACTGCAAAACATCCATCTTGTTCAGTGGTATATTAAATTAATCTTTTTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGCGAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACAATGTCNNNN
|
benign
| 327,275 |
Is the genetic mutation found on chromosome 22 at position 40361286, within the gene ADSL (adenylosuccinate lyase), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Adenylosuccinate_lyase_deficiency']
|
GGATGTGTCTTTTCTTTCCAAGGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGATTTAAGAGGTAGGTAAATGGGAATGTGTTGGCCTCCCTGTTAAGTTGATGGAAGTCCTATATTCAGTATACCTGCAGATTTGACCTTACAATTTTTGCCTTTTTCTTCCTTTGTTCTTCTACCCATTTTTTTTTTTCCTGTCTCTATCCTGGGTTTTACTTTCTTACTATCTGGATTCTTTTTTTTTTTTTTTTTTTTTCGCCTAATCGTCTTGCTGACATATTTTCTGGATTTCATTTTATTTTATTATTGTTTTTGAGACAGGGTCTTACTCTGTCACCCAGGCTGGAGTGCAGCGGTGTGATCTCGGCTCACGGCAGCCTCCGCCTCCCAGTTTCAAGCAGTCCTTCCACCTAAGCCCCCTGTGACTACAGGCATGCCTGGCTAATTTTTGTATTGTTTTTGTATAATTTTTGTATTGTTTTGTAGAGACCATGTTGCCCAGGCTGGTCTCCAACTCCTGAGATCAAGCGATCCACCTGCCTCAGCCTCAAAGTGCTAGGATTATAGGCATGAGCCACCATGCCTGACCTGCATTCTCTTTTTGTATAATCTATAGGAAAAAAGAAAATGATTTACTTCTGGTTTCTTTAGAATACCTTTATCCATGTTGTTACCATTTTTGTTTCTTTACTTAGGGCCCCCAACAGGTTAGGCTAAATCTGACCATTTCCATTGAGGTCCACCAGGTTCCACCATGGCTCCTTCTCCCAGGCATTTCTATTGGGCTGTGGCCAGACATGGGCACGTTGCACCATGTATCCTTCTTGAGTCAGGCCATTGTCCTGAGTATTAGTGAAAAGGGTGGAAGAATAGTTTATTCCAGGAGCAAGTTACCACTCAGGTCCACTGGTTGAGTATAACTTAGCATACCAATAAGACCAAGCTTTTCTTTAGGATGTGTTTTTCCTTGTTTGACAGAGTCATGTTTTGAATTATTATTATTTTATAAGAGTCTCCCAGTGATGCTTAGGCTGGCCTTAACCTCCTGAGTTAAAGCAGTCCTCCTCCGTTAGCCTCCTAAGTAGCTGGGACTACAGTCATGCACCACTGCAATGGCTTTAAAATATTTTAACCTAAGTCTCTCTTGTACTTATTCCTAGAGCTTTCATCATCACAGGGCAGACATATACACGAAAAGTGGATATTGAAGTACTGTCTGTGCTGGCTAGCTTGGGGGCATCAGTGCACAAGGTGAGTGGTGGCAGCATGTGGGGTGGGGACAGGAGCTTTGGGCACCACAGACAGACTGAATTAACCTCAGACTTTTACTTAACCATCTCTCTCAAGCAATATTTTACATTAGTTTTAATAATTTGTGGTCTGTAAATGAAACCCTTAAGGGGAAGACTCGTTTTGGCATTTTCTTTAAAGTTATCTCAAGCACTGCAAAACATCCATCTTGTTCAGTGGTATATTAAATTAATCTTTTTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGCGAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACAATGTCTGGCTAATTTTAGTAGAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGCGCCCATCCTGAATTAATCTTGTGATTTTCTTTCCATGATGCCTTAAGCAGTGTTTCACAAAAGCGTTTTCATGCTCCTTGAATTTGTCATCCCAGTCCTTCGGGAACAGAGAGGAGTCGGAGTAAGATACTCTGCAGGAGCTCTTTGGGAGGATGCGCTGGTCTTCAGCTCAGCCACAGCACACCTAAGAGCTCATCTCCTTCATCAGCCTAGTCACAGCTCCCAGACTCTACTGCACACTGACAGTGTGGGGTGATGCTTATTCCCCTACCTCCCCCAGATTTGCACCGACATACGCCTCCTGGCAAACCTCAAGGAGATGGAGGAACCCTTTGAAAAACAGCAGATTGGTGAGTGCTGTGTAGAGACCTGTGAGCACACATTGCTGCTGGAAGGCTGTGGATGGGGGCTGAGAGCTCATTCAGCATGCTTGCCTACTCACTATCCTCTGAAGTCTCTCTGCCTTTGCATCTTGTCCTTTTTTTACATGGGCAGGCTCAAGTGCGATGCCATATAAGCGGAATCCCATGCGTTCAGAACGTTGCTGCAGTCTTGCCCGCCACCTGATGACCCTTGTCATGGACCCGCTACAGACAGCATCTGTCCAGTGGTTTGAACGCACACTGGATGATAGTGCCAACCGGTCAGTGGCACAGGGACATCACATACACCAAGTTGAGTGGAGGTCTGAAGGAGGGACCTAGAAGTAAAAGGACATATTTGAGCATCTCTACAGTCTCCTTATCCCCAAGGATCCCAGAGTCTAGCAGGGAGGCAAAAACATAAAAAGGACAGTGTGATAAGTGTTACAATTGGAGTGTGTACTGGGTACTGTGGAGCAAAGAGGAAGGAATAGTGTTTGAGGAGTCAGAAAGCTTCACAGTAGAGGTGATGCCTTAAGACTTAAGAAATACATGCATCTTTTAAAGACAAGATCGGGAGCATTATAAAGGCACAAAGCAGGAGAAAACACACTTGAGGGAGTTACTACTACTTGAGTAGCCCTGGGGAATGAAGTCAACATGTGCCAGGAGGTGGGGCAGGACATGGTCACAGATAGCCAGTTTATGAAAGGTCTTCTGGGTCTTTTCTGAAGGCAGATAGATGTCAGTTGTGGTGTCTAGGCACAATGACATCTTGATTAGTTATGAGATGAGTCAGAAATAATTTGTAACTACTGTTGAGGTGCCAACATGCGCATCATTTTCTGTTTTATGTATATACTCACTTAAAGCAGATTGGCATTACTCTCGCCTGCTCGCATTTTGCTGGAATTTCTTGAGTGGATACGGATGTATAGTTAAACCTAGCTTTCTGGGATCTGTGCATAATCCACGATTTATCTCTGGAAATAAGTCATGTGAACTCATTCAGAAGTCAGCCATTGAATACTTTTTAGCAAGGTGTGACCCTGTAGGTCTGCTGATTTGCCTGCTAAAAGACCCTAGCAACAGTTTGGAGAGTTGGCTGTAAGGAGACAGGGATCATGTCAGAACAAGTTAGGGGCTACTTTAAAAGTCTGAGGCCACATTGGTGCAGTGGCCATGTAAATGGAGAGGAAGGATATAGATCCAGAGTCGAAGGCAGACTGGCCAGCCCAGCCCTGGTGGTTGACCGGAGTGAGTATAAAGAGCTTGGTGAGTGGGGCGCTACTGCCATTTACTGAGGCAGGAGCTACAAGGGAGGAATGGCAGGTATGTAATGGTGAGTAGGAGGAATGAGAAAGTGGCTGAGTTCAGTTTGGGGATTGAGGTACCCATAGATCAACCAGGTGGACGTCTCACTCAGTAGGTATGAGGTCTGGCACTTGAGCAAGTGGTCTGGCCTAGAGGTGACAGATTTGAGGGTCGTGAGGTTATTGGGGTAATCATAAGATTGAAGGAGATTATCCAGAGAGTACAGTCAGTAGGGCAACTTGTTGGGACACACACTGCATTTCACTGAAATTATTTGTTTAAAGACATACTGAATGGCTATTTGTTTTCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTATTTTAAATTGCCTTAAACTATCTAGCAGCATGAATCATCAGCTCTGGTGTGACTAGGCAGAGT
|
GGATGTGTCTTTTCTTTCCAAGGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGATTTAAGAGGTAGGTAAATGGGAATGTGTTGGCCTCCCTGTTAAGTTGATGGAAGTCCTATATTCAGTATACCTGCAGATTTGACCTTACAATTTTTGCCTTTTTCTTCCTTTGTTCTTCTACCCATTTTTTTTTTTCCTGTCTCTATCCTGGGTTTTACTTTCTTACTATCTGGATTCTTTTTTTTTTTTTTTTTTTTTCGCCTAATCGTCTTGCTGACATATTTTCTGGATTTCATTTTATTTTATTATTGTTTTTGAGACAGGGTCTTACTCTGTCACCCAGGCTGGAGTGCAGCGGTGTGATCTCGGCTCACGGCAGCCTCCGCCTCCCAGTTTCAAGCAGTCCTTCCACCTAAGCCCCCTGTGACTACAGGCATGCCTGGCTAATTTTTGTATTGTTTTTGTATAATTTTTGTATTGTTTTGTAGAGACCATGTTGCCCAGGCTGGTCTCCAACTCCTGAGATCAAGCGATCCACCTGCCTCAGCCTCAAAGTGCTAGGATTATAGGCATGAGCCACCATGCCTGACCTGCATTCTCTTTTTGTATAATCTATAGGAAAAAAGAAAATGATTTACTTCTGGTTTCTTTAGAATACCTTTATCCATGTTGTTACCATTTTTGTTTCTTTACTTAGGGCCCCCAACAGGTTAGGCTAAATCTGACCATTTCCATTGAGGTCCACCAGGTTCCACCATGGCTCCTTCTCCCAGGCATTTCTATTGGGCTGTGGCCAGACATGGGCACGTTGCACCATGTATCCTTCTTGAGTCAGGCCATTGTCCTGAGTATTAGTGAAAAGGGTGGAAGAATAGTTTATTCCAGGAGCAAGTTACCACTCAGGTCCACTGGTTGAGTATAACTTAGCATACCAATAAGACCAAGCTTTTCTTTAGGATGTGTTTTTCCTTGTTTGACAGAGTCATGTTTTGAATTATTATTATTTTATAAGAGTCTCCCAGTGATGCTTAGGCTGGCCTTAACCTCCTGAGTTAAAGCAGTCCTCCTCCGTTAGCCTCCTAAGTAGCTGGGACTACAGTCATGCACCACTGCAATGGCTTTAAAATATTTTAACCTAAGTCTCTCTTGTACTTATTCCTAGAGCTTTCATCATCACAGGGCAGACATATACACGAAAAGTGGATATTGAAGTACTGTCTGTGCTGGCTAGCTTGGGGGCATCAGTGCACAAGGTGAGTGGTGGCAGCATGTGGGGTGGGGACAGGAGCTTTGGGCACCACAGACAGACTGAATTAACCTCAGACTTTTACTTAACCATCTCTCTCAAGCAATATTTTACATTAGTTTTAATAATTTGTGGTCTGTAAATGAAACCCTTAAGGGGAAGACTCGTTTTGGCATTTTCTTTAAAGTTATCTCAAGCACTGCAAAACATCCATCTTGTTCAGTGGTATATTAAATTAATCTTTTTTTTTTTTCGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGCGAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACAATGTCTGGCTAATTTTAGTAGAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGCGCCCATCCTGAATTAATCTTGTGATTTTCTTTCCATGATGCCTTAAGCAGTGTTTCACAAAAGCGTTTTCATGCTCCTTGAATTTGTCATCCCAGTCCTTCGGGAACAGAGAGGAGTCGGAGTAAGATACTCTGCAGGAGCTCTTTGGGAGGATGCGCTGGTCTTCAGCTCAGCCACAGCACACCTAAGAGCTCATCTCCTTCATCAGCCTAGTCACAGCTCCCAGACTCTACTGCACACTGACAGTGTGGGGTGATGCTTATTCCCCTACCTCCCCCAGATTTGCACCGACATAACGCCTCCTGGCAAACCTCAAGGAGATGGAGGAACCCTTTGAAAAACAGCAGATTGGTGAGTGCTGTGTAGAGACCTGTGAGCACACATTGCTGCTGGAAGGCTGTGGATGGGGGCTGAGAGCTCATTCAGCATGCTTGCCTACTCACTATCCTCTGAAGTCTCTCTGCCTTTGCATCTTGTCCTTTTTTTACATGGGCAGGCTCAAGTGCGATGCCATATAAGCGGAATCCCATGCGTTCAGAACGTTGCTGCAGTCTTGCCCGCCACCTGATGACCCTTGTCATGGACCCGCTACAGACAGCATCTGTCCAGTGGTTTGAACGCACACTGGATGATAGTGCCAACCGGTCAGTGGCACAGGGACATCACATACACCAAGTTGAGTGGAGGTCTGAAGGAGGGACCTAGAAGTAAAAGGACATATTTGAGCATCTCTACAGTCTCCTTATCCCCAAGGATCCCAGAGTCTAGCAGGGAGGCAAAAACATAAAAAGGACAGTGTGATAAGTGTTACAATTGGAGTGTGTACTGGGTACTGTGGAGCAAAGAGGAAGGAATAGTGTTTGAGGAGTCAGAAAGCTTCACAGTAGAGGTGATGCCTTAAGACTTAAGAAATACATGCATCTTTTAAAGACAAGATCGGGAGCATTATAAAGGCACAAAGCAGGAGAAAACACACTTGAGGGAGTTACTACTACTTGAGTAGCCCTGGGGAATGAAGTCAACATGTGCCAGGAGGTGGGGCAGGACATGGTCACAGATAGCCAGTTTATGAAAGGTCTTCTGGGTCTTTTCTGAAGGCAGATAGATGTCAGTTGTGGTGTCTAGGCACAATGACATCTTGATTAGTTATGAGATGAGTCAGAAATAATTTGTAACTACTGTTGAGGTGCCAACATGCGCATCATTTTCTGTTTTATGTATATACTCACTTAAAGCAGATTGGCATTACTCTCGCCTGCTCGCATTTTGCTGGAATTTCTTGAGTGGATACGGATGTATAGTTAAACCTAGCTTTCTGGGATCTGTGCATAATCCACGATTTATCTCTGGAAATAAGTCATGTGAACTCATTCAGAAGTCAGCCATTGAATACTTTTTAGCAAGGTGTGACCCTGTAGGTCTGCTGATTTGCCTGCTAAAAGACCCTAGCAACAGTTTGGAGAGTTGGCTGTAAGGAGACAGGGATCATGTCAGAACAAGTTAGGGGCTACTTTAAAAGTCTGAGGCCACATTGGTGCAGTGGCCATGTAAATGGAGAGGAAGGATATAGATCCAGAGTCGAAGGCAGACTGGCCAGCCCAGCCCTGGTGGTTGACCGGAGTGAGTATAAAGAGCTTGGTGAGTGGGGCGCTACTGCCATTTACTGAGGCAGGAGCTACAAGGGAGGAATGGCAGGTATGTAATGGTGAGTAGGAGGAATGAGAAAGTGGCTGAGTTCAGTTTGGGGATTGAGGTACCCATAGATCAACCAGGTGGACGTCTCACTCAGTAGGTATGAGGTCTGGCACTTGAGCAAGTGGTCTGGCCTAGAGGTGACAGATTTGAGGGTCGTGAGGTTATTGGGGTAATCATAAGATTGAAGGAGATTATCCAGAGAGTACAGTCAGTAGGGCAACTTGTTGGGACACACACTGCATTTCACTGAAATTATTTGTTTAAAGACATACTGAATGGCTATTTGTTTTCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTATTTTAAATTGCCTTAAACTATCTAGCAGCATGAATCATCAGCTCTGGTGTGACTAGGCAGAG
|
pathogenic
| 327,288 |
Is the genetic variant on chromosome 22, position 40365024, gene ADSL (adenylosuccinate lyase), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Adenylosuccinate_lyase_deficiency']
|
TCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTATTTTAAATTGCCTTAAACTATCTAGCAGCATGAATCATCAGCTCTGGTGTGACTAGGCAGAGTAGATGTCTCCATTTGCCTGTTTTTAAGTACTTGAGGCAGATGGGTTCATTTCTCTCCTATACTTAGCTCTTGAGGCTGAGCACTGATATGTAACAAATAGGGGTTTTAAGAATTCTTTCAGGCCAGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGTTGGCGGGTGCCTGTAATCCGAGCTACTCGGGAGACTGAGGCAGGAAAATTGCTTGAACCCAGGAGGTGGAAGTTGCGGTGAGCCGAGATCGTGTCATTGTACTCCATCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAACCTCTTCCTATGTGGCAACTTTTTTTAAGTTAATATTTCCTTTTTAAAAATCAAAAGTCTGACAGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGATCACGAGGCCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCTGGACGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGACGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAAAAAAAAATCCGAAGTCTGAGTTAGTAAGAAAACTGAAAAAACATCATATAGAATAAAACAACTTGTTACTCTCCATAATGTGGTAGTTAGTGTCTGTGCTGTGCATTTTGTTTGACATCCTGCTGTGTTTATGACTTTAACCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGAGTGCACGTTTGGTCCTGCTCTCTTCTCCGTGAAGGAGAGCAGATGAAGGTGTTTATGTCATTACCTTCAGTCACAGTAATGGTACAGAGCAGTGGCCATAATCTGCCATCTATGGAGGGTGATTTTGGTGAACTGAATTTGTTAAAGTGAATTACTTAATCACTTGTAGGAAAAGTCCACTCCTAGTGAAGGAATGAGGTCTGACATTCTGTAGGAAATGAGCAGGAAACGAGCAAATGATTCATGAGGCTTTACAGAAGAGGGCCAGAGCAAGGTGGGCATCCATTTCAGGCTTGTCCTAAGATGTGGGCAGAGAGTTGAGAAGACCCTGGTACAGATAGACACAGGAACCACCTCAGCCTAGAGGGGTTTTGTGTAGAGCTGTGTAGACTGCATGGATGGGAAGTATCTGATGACTTTTTAAAAGTGTTCAAACGCCCTGTTAGTAGGGAACTGACAATACTTCACTGTCTTCCCAGGATTGCCATGAGAAAATCAGAGTGCTTTCTCAGCAGGCAGCTTCTGTGGTTAAGCAGGAAGGGGGTGACAATGACCTCATAGAGCGTATCCAGGTTGATGCCTACTTCAGTCCCATTCACTCCCAGTTGGATCATTTACTGGATCCTTCTTCTTTCACTGGTCGTGCCTCCCAGCAGGTAAGCTTCCAAGAAGCCTCTTTTCTGCTGGGCTGCAGAACCTGGGGTACTCTCTTTGATGTTTTTGCTTTATAGGAGGTATGGTGGGAATGGGCTAGTTAGAAGAAAATCAGAGCAGGTTGCTGGCTAAAACTTAGATATTTCGGTTTTGTTTCTGTTTTGTTTTGTTTTTTTGAGACAGAGTCTCTCATCCAGGCTGGAGTGCAGTGGTGCTGAGTGCAGTGGTGCTGGGATTATAGGCATGAGCCCCCACAACTGACCAAGATACCGCTGTTTTGAGCTGCCTTTATTTCTTTGTGTAGATTTTTTGGAATTATCTTTTGGTCTTGAGAATGTGGTATAATGGACAAAGAATTAGGTTTTATTGTCAGGTGGATCTGGGTTAAATCGTAACCTCTGGCATTTACTGGCTGAGAAGGTAAAAGTAAATATCTCAGTGTTGTAATGATTGAAATGCCTGAGTATATACTAGGTGCTCAGTATGTGTTCAGGTACTGTATTTAATTCTGGGGATTTTAAAATGAATAGATAGGCTGGGCGCAGTGGCTCACACCAGTAATCCTAGCATTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGAACATCCTGGGCAACATGGTGAAACCTTGTCTCTACAAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCGCCTGTAGTCTCTGCTACTCAGGGCTGAGGCGGGAGGATAGCTTGAGCCTAGGAGGTCAAGGCTGCAGTGAGCCATATTCATTCCCTTGCCCTCTGGCTTGGGTGACAAAATGAGATCCTGTCTTAAAAAAAATACAAAGATGAATAGATAATCCTCATCTTCAGAGAGCTCAAAACTTAGTGGTGAATACTTGTAAATAGGTCATTATGATACCAAGCAGTACGTGCAAGGACTGAGGGCTAAAAGACTAAAACTGGAGGTAGGAGACCAATAAGGAGGCTACTGCAACGGGCCAAGCAGTAGATGATGAGAGCTTGAGTGAAGGCAGTGGTGAGAGACACAGACCGGGGAGGGAGAGGAGGTTAAGCTCTTGGTGGCTACTTGAAGAGGGCTGGGAAGCAGGAGGAAAGAAGCTGTGGTGATTTTTAGGTTGGATGGAAATGGTGAAACCACCTGAGAGAACACAGGCTGGGCCAGTTTGCGGGAAAGGTTGGTGAGCATGTGGGCATGGTGGTTGAATCATCTGTGTCTAGGCAGAAATTCCTGATAGGCAGTTGAGGAAAACAAGCTCAGTGTTGGAGTAAAAGCTTCATCAAATTAGGTTTCAGTGGTATCCCCTGACATTGGAAAAGGTATTATCTGCTAATATCTTAACATTTTCTTTTGTCTTGTATTTGCTTTCCTCTGGCAGGTGCAGAGATTCTTAGAAGAGGAGGTGTATCCCCTGTTAAAACCATATGAAAGCGTGATGAAGGTGAAAGCAGAATTATGTCTGTAGAGTTGGAAGAGAATTAAACGAAAATCATTGTTAATTGCTGAGGCATGAAAATTGTGTTACTATAATGCCTTATTTTACCTCGAGAATTGTTACCTTAAATTAGTACAGCACTTTCTTCTTCCCATGGTGCTTTCCTGTTTCTCAGTCTCACATTTCTCAACAAGGCAAAAACAAAGAGCGTTGAAGTTGACTCTGCTCTTGCATAGTAAATGTAGTTCATACTTGATCTCTGTTCTTTCAAGGCATATTTTCCAGCTGCCTCAAGTTTAGTCCTTTTCACGTGTTCATTTGCTTGTAAAGTAGCAAGAAATTTCTGGTCCTGTCTTCTAAAAGTGAATTTGATCTAGGTCTAGCAAAATAACCTGGACTCAGTGATTGAGTCAATGGTCAGATACCTTTTATTTCGGTTATTTTTGGCTAGTATAAGTGATGAAGTTTGGAACTACAGTAAATACTTAAAAAAAAAAAAAAAAAGAACCAAACCCTGATGTGACCATCAGGCTGATTGAGCTGAAGTTGTGCCCAAGCTCATTTCATCTTTTGATAAGG
|
TCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTATTTTAAATTGCCTTAAACTATCTAGCAGCATGAATCATCAGCTCTGGTGTGACTAGGCAGAGTAGATGTCTCCATTTGCCTGTTTTTAAGTACTTGAGGCAGATGGGTTCATTTCTCTCCTATACTTAGCTCTTGAGGCTGAGCACTGATATGTAACAAATAGGGGTTTTAAGAATTCTTTCAGGCCAGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGTTGGCGGGTGCCTGTAATCCGAGCTACTCGGGAGACTGAGGCAGGAAAATTGCTTGAACCCAGGAGGTGGAAGTTGCGGTGAGCCGAGATCGTGTCATTGTACTCCATCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAACCTCTTCCTATGTGGCAACTTTTTTTAAGTTAATATTTCCTTTTTAAAAATCAAAAGTCTGACAGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGATCACGAGGCCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCTGGACGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGACGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAAAAAAAAATCCGAAGTCTGAGTTAGTAAGAAAACTGAAAAAACATCATATAGAATAAAACAACTTGTTACTCTCCATAATGTGGTAGTTAGTGTCTGTGCTGTGCATTTTGTTTGACATCCTGCTGTGTTTATGACTTTAACCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGAGTGCACGTTTGGTCCTGCTCTCTTCTCCGTGAAGGAGAGCAGATGAAGGTGTTTATGTCATTACCTTCAGTCACAGTAATGGTACAGAGCAGTGGCCATAATCTGCCATCTATGGAGGGTGATTTTGGTGAACTGAATTTGTTAAAGTGAATTACTTAATCACTTGTAGGAAAAGTCCACTCCTAGTGAAGGAATGAGGTCTGACATTCTGTAGGAAATGAGCAGGAAACGAGCAAATGATTCATGAGGCTTTACAGAAGAGGGCCAGAGCAAGGTGGGCATCCATTTCAGGCTTGTCCTAAGATGTGGGCAGAGAGTTGAGAAGACCCTGGTACAGATAGACACAGGAACCACCTCAGCCTAGAGGGGTTTTGTGTAGAGCTGTGTAGACTGCATGGATGGGAAGTATCTGATGACTTTTTAAAAGTGTTCAAACGCCCTGTTAGTAGGGAACTGACAATACTTCACTGTCTTCCCAGGATTGCCATGAGAAAATCAGAGTGCTTTCTCAGCAGGCAGCTTCTGTGGTTAAGCAGGAAGGGGGTGACAATGACCTCATAGAGCGTATCCAGGTTGATGCCTACTTCAGTCCCATTCACTCCCAGTTGGATCATTTACTGGATCCTTCTTTCACTGGTCGTGCCTCCCAGCAGGTAAGCTTCCAAGAAGCCTCTTTTCTGCTGGGCTGCAGAACCTGGGGTACTCTCTTTGATGTTTTTGCTTTATAGGAGGTATGGTGGGAATGGGCTAGTTAGAAGAAAATCAGAGCAGGTTGCTGGCTAAAACTTAGATATTTCGGTTTTGTTTCTGTTTTGTTTTGTTTTTTTGAGACAGAGTCTCTCATCCAGGCTGGAGTGCAGTGGTGCTGAGTGCAGTGGTGCTGGGATTATAGGCATGAGCCCCCACAACTGACCAAGATACCGCTGTTTTGAGCTGCCTTTATTTCTTTGTGTAGATTTTTTGGAATTATCTTTTGGTCTTGAGAATGTGGTATAATGGACAAAGAATTAGGTTTTATTGTCAGGTGGATCTGGGTTAAATCGTAACCTCTGGCATTTACTGGCTGAGAAGGTAAAAGTAAATATCTCAGTGTTGTAATGATTGAAATGCCTGAGTATATACTAGGTGCTCAGTATGTGTTCAGGTACTGTATTTAATTCTGGGGATTTTAAAATGAATAGATAGGCTGGGCGCAGTGGCTCACACCAGTAATCCTAGCATTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGAACATCCTGGGCAACATGGTGAAACCTTGTCTCTACAAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCGCCTGTAGTCTCTGCTACTCAGGGCTGAGGCGGGAGGATAGCTTGAGCCTAGGAGGTCAAGGCTGCAGTGAGCCATATTCATTCCCTTGCCCTCTGGCTTGGGTGACAAAATGAGATCCTGTCTTAAAAAAAATACAAAGATGAATAGATAATCCTCATCTTCAGAGAGCTCAAAACTTAGTGGTGAATACTTGTAAATAGGTCATTATGATACCAAGCAGTACGTGCAAGGACTGAGGGCTAAAAGACTAAAACTGGAGGTAGGAGACCAATAAGGAGGCTACTGCAACGGGCCAAGCAGTAGATGATGAGAGCTTGAGTGAAGGCAGTGGTGAGAGACACAGACCGGGGAGGGAGAGGAGGTTAAGCTCTTGGTGGCTACTTGAAGAGGGCTGGGAAGCAGGAGGAAAGAAGCTGTGGTGATTTTTAGGTTGGATGGAAATGGTGAAACCACCTGAGAGAACACAGGCTGGGCCAGTTTGCGGGAAAGGTTGGTGAGCATGTGGGCATGGTGGTTGAATCATCTGTGTCTAGGCAGAAATTCCTGATAGGCAGTTGAGGAAAACAAGCTCAGTGTTGGAGTAAAAGCTTCATCAAATTAGGTTTCAGTGGTATCCCCTGACATTGGAAAAGGTATTATCTGCTAATATCTTAACATTTTCTTTTGTCTTGTATTTGCTTTCCTCTGGCAGGTGCAGAGATTCTTAGAAGAGGAGGTGTATCCCCTGTTAAAACCATATGAAAGCGTGATGAAGGTGAAAGCAGAATTATGTCTGTAGAGTTGGAAGAGAATTAAACGAAAATCATTGTTAATTGCTGAGGCATGAAAATTGTGTTACTATAATGCCTTATTTTACCTCGAGAATTGTTACCTTAAATTAGTACAGCACTTTCTTCTTCCCATGGTGCTTTCCTGTTTCTCAGTCTCACATTTCTCAACAAGGCAAAAACAAAGAGCGTTGAAGTTGACTCTGCTCTTGCATAGTAAATGTAGTTCATACTTGATCTCTGTTCTTTCAAGGCATATTTTCCAGCTGCCTCAAGTTTAGTCCTTTTCACGTGTTCATTTGCTTGTAAAGTAGCAAGAAATTTCTGGTCCTGTCTTCTAAAAGTGAATTTGATCTAGGTCTAGCAAAATAACCTGGACTCAGTGATTGAGTCAATGGTCAGATACCTTTTATTTCGGTTATTTTTGGCTAGTATAAGTGATGAAGTTTGGAACTACAGTAAATACTTAAAAAAAAAAAAAAAAAGAACCAAACCCTGATGTGACCATCAGGCTGATTGAGCTGAAGTTGTGCCCAAGCTCATTTCATCTTTTGATAAGGNNN
|
pathogenic
| 327,316 |
Is chromosome 22, position 40365062, gene ADSL (adenylosuccinate lyase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
benign
|
AGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTATTTTAAATTGCCTTAAACTATCTAGCAGCATGAATCATCAGCTCTGGTGTGACTAGGCAGAGTAGATGTCTCCATTTGCCTGTTTTTAAGTACTTGAGGCAGATGGGTTCATTTCTCTCCTATACTTAGCTCTTGAGGCTGAGCACTGATATGTAACAAATAGGGGTTTTAAGAATTCTTTCAGGCCAGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGTTGGCGGGTGCCTGTAATCCGAGCTACTCGGGAGACTGAGGCAGGAAAATTGCTTGAACCCAGGAGGTGGAAGTTGCGGTGAGCCGAGATCGTGTCATTGTACTCCATCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAACCTCTTCCTATGTGGCAACTTTTTTTAAGTTAATATTTCCTTTTTAAAAATCAAAAGTCTGACAGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGATCACGAGGCCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCTGGACGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGACGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAAAAAAAAATCCGAAGTCTGAGTTAGTAAGAAAACTGAAAAAACATCATATAGAATAAAACAACTTGTTACTCTCCATAATGTGGTAGTTAGTGTCTGTGCTGTGCATTTTGTTTGACATCCTGCTGTGTTTATGACTTTAACCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGAGTGCACGTTTGGTCCTGCTCTCTTCTCCGTGAAGGAGAGCAGATGAAGGTGTTTATGTCATTACCTTCAGTCACAGTAATGGTACAGAGCAGTGGCCATAATCTGCCATCTATGGAGGGTGATTTTGGTGAACTGAATTTGTTAAAGTGAATTACTTAATCACTTGTAGGAAAAGTCCACTCCTAGTGAAGGAATGAGGTCTGACATTCTGTAGGAAATGAGCAGGAAACGAGCAAATGATTCATGAGGCTTTACAGAAGAGGGCCAGAGCAAGGTGGGCATCCATTTCAGGCTTGTCCTAAGATGTGGGCAGAGAGTTGAGAAGACCCTGGTACAGATAGACACAGGAACCACCTCAGCCTAGAGGGGTTTTGTGTAGAGCTGTGTAGACTGCATGGATGGGAAGTATCTGATGACTTTTTAAAAGTGTTCAAACGCCCTGTTAGTAGGGAACTGACAATACTTCACTGTCTTCCCAGGATTGCCATGAGAAAATCAGAGTGCTTTCTCAGCAGGCAGCTTCTGTGGTTAAGCAGGAAGGGGGTGACAATGACCTCATAGAGCGTATCCAGGTTGATGCCTACTTCAGTCCCATTCACTCCCAGTTGGATCATTTACTGGATCCTTCTTCTTTCACTGGTCGTGCCTCCCAGCAGGTAAGCTTCCAAGAAGCCTCTTTTCTGCTGGGCTGCAGAACCTGGGGTACTCTCTTTGATGTTTTTGCTTTATAGGAGGTATGGTGGGAATGGGCTAGTTAGAAGAAAATCAGAGCAGGTTGCTGGCTAAAACTTAGATATTTCGGTTTTGTTTCTGTTTTGTTTTGTTTTTTTGAGACAGAGTCTCTCATCCAGGCTGGAGTGCAGTGGTGCTGAGTGCAGTGGTGCTGGGATTATAGGCATGAGCCCCCACAACTGACCAAGATACCGCTGTTTTGAGCTGCCTTTATTTCTTTGTGTAGATTTTTTGGAATTATCTTTTGGTCTTGAGAATGTGGTATAATGGACAAAGAATTAGGTTTTATTGTCAGGTGGATCTGGGTTAAATCGTAACCTCTGGCATTTACTGGCTGAGAAGGTAAAAGTAAATATCTCAGTGTTGTAATGATTGAAATGCCTGAGTATATACTAGGTGCTCAGTATGTGTTCAGGTACTGTATTTAATTCTGGGGATTTTAAAATGAATAGATAGGCTGGGCGCAGTGGCTCACACCAGTAATCCTAGCATTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGAACATCCTGGGCAACATGGTGAAACCTTGTCTCTACAAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCGCCTGTAGTCTCTGCTACTCAGGGCTGAGGCGGGAGGATAGCTTGAGCCTAGGAGGTCAAGGCTGCAGTGAGCCATATTCATTCCCTTGCCCTCTGGCTTGGGTGACAAAATGAGATCCTGTCTTAAAAAAAATACAAAGATGAATAGATAATCCTCATCTTCAGAGAGCTCAAAACTTAGTGGTGAATACTTGTAAATAGGTCATTATGATACCAAGCAGTACGTGCAAGGACTGAGGGCTAAAAGACTAAAACTGGAGGTAGGAGACCAATAAGGAGGCTACTGCAACGGGCCAAGCAGTAGATGATGAGAGCTTGAGTGAAGGCAGTGGTGAGAGACACAGACCGGGGAGGGAGAGGAGGTTAAGCTCTTGGTGGCTACTTGAAGAGGGCTGGGAAGCAGGAGGAAAGAAGCTGTGGTGATTTTTAGGTTGGATGGAAATGGTGAAACCACCTGAGAGAACACAGGCTGGGCCAGTTTGCGGGAAAGGTTGGTGAGCATGTGGGCATGGTGGTTGAATCATCTGTGTCTAGGCAGAAATTCCTGATAGGCAGTTGAGGAAAACAAGCTCAGTGTTGGAGTAAAAGCTTCATCAAATTAGGTTTCAGTGGTATCCCCTGACATTGGAAAAGGTATTATCTGCTAATATCTTAACATTTTCTTTTGTCTTGTATTTGCTTTCCTCTGGCAGGTGCAGAGATTCTTAGAAGAGGAGGTGTATCCCCTGTTAAAACCATATGAAAGCGTGATGAAGGTGAAAGCAGAATTATGTCTGTAGAGTTGGAAGAGAATTAAACGAAAATCATTGTTAATTGCTGAGGCATGAAAATTGTGTTACTATAATGCCTTATTTTACCTCGAGAATTGTTACCTTAAATTAGTACAGCACTTTCTTCTTCCCATGGTGCTTTCCTGTTTCTCAGTCTCACATTTCTCAACAAGGCAAAAACAAAGAGCGTTGAAGTTGACTCTGCTCTTGCATAGTAAATGTAGTTCATACTTGATCTCTGTTCTTTCAAGGCATATTTTCCAGCTGCCTCAAGTTTAGTCCTTTTCACGTGTTCATTTGCTTGTAAAGTAGCAAGAAATTTCTGGTCCTGTCTTCTAAAAGTGAATTTGATCTAGGTCTAGCAAAATAACCTGGACTCAGTGATTGAGTCAATGGTCAGATACCTTTTATTTCGGTTATTTTTGGCTAGTATAAGTGATGAAGTTTGGAACTACAGTAAATACTTAAAAAAAAAAAAAAAAAGAACCAAACCCTGATGTGACCATCAGGCTGATTGAGCTGAAGTTGTGCCCAAGCTCATTTCATCTTTTGATAAGGCTTATACAGCAGGGAAATGCTAATTGAGTATATTGATT
|
AGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTATTTTAAATTGCCTTAAACTATCTAGCAGCATGAATCATCAGCTCTGGTGTGACTAGGCAGAGTAGATGTCTCCATTTGCCTGTTTTTAAGTACTTGAGGCAGATGGGTTCATTTCTCTCCTATACTTAGCTCTTGAGGCTGAGCACTGATATGTAACAAATAGGGGTTTTAAGAATTCTTTCAGGCCAGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGTTGGCGGGTGCCTGTAATCCGAGCTACTCGGGAGACTGAGGCAGGAAAATTGCTTGAACCCAGGAGGTGGAAGTTGCGGTGAGCCGAGATCGTGTCATTGTACTCCATCCTGGGCAACAAGAACGAAACTCCATCTCAAAAAAAAAAAAAAAACCTCTTCCTATGTGGCAACTTTTTTTAAGTTAATATTTCCTTTTTAAAAATCAAAAGTCTGACAGGGCGCGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGATCACGAGGCCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCTGGACGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCAGGAGACGGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAAAAAAAAATCCGAAGTCTGAGTTAGTAAGAAAACTGAAAAAACATCATATAGAATAAAACAACTTGTTACTCTCCATAATGTGGTAGTTAGTGTCTGTGCTGTGCATTTTGTTTGACATCCTGCTGTGTTTATGACTTTAACCTTGAGGCACCTTTCTTGGTCATTCACCGTATCTTTTCCTATAGGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATCATCATGGCCATGGTCAAAGCTGGAGGTAGCCGCCAGGTTTGTAACCCCTCATGTTCCTGGATAAGTTGAGAGTGCACGTTTGGTCCTGCTCTCTTCTCCGTGAAGGAGAGCAGATGAAGGTGTTTATGTCATTACCTTCAGTCACAGTAATGGTACAGAGCAGTGGCCATAATCTGCCATCTATGGAGGGTGATTTTGGTGAACTGAATTTGTTAAAGTGAATTACTTAATCACTTGTAGGAAAAGTCCACTCCTAGTGAAGGAATGAGGTCTGACATTCTGTAGGAAATGAGCAGGAAACGAGCAAATGATTCATGAGGCTTTACAGAAGAGGGCCAGAGCAAGGTGGGCATCCATTTCAGGCTTGTCCTAAGATGTGGGCAGAGAGTTGAGAAGACCCTGGTACAGATAGACACAGGAACCACCTCAGCCTAGAGGGGTTTTGTGTAGAGCTGTGTAGACTGCATGGATGGGAAGTATCTGATGACTTTTTAAAAGTGTTCAAACGCCCTGTTAGTAGGGAACTGACAATACTTCACTGTCTTCCCAGGATTGCCATGAGAAAATCAGAGTGCTTTCTCAGCAGGCAGCTTCTGTGGTTAAGCAGGAAGGGGGTGACAATGACCTCATAGAGCGTATCCAGGTTGATGCCTACTTCAGTCCCATTCACTCCCAGTTGGATCATTTACTGGATCCTTCTTCTTTCACTGGTCGTGCCTCCCAGCAGGTAAGCTCCAAGAAGCCTCTTTTCTGCTGGGCTGCAGAACCTGGGGTACTCTCTTTGATGTTTTTGCTTTATAGGAGGTATGGTGGGAATGGGCTAGTTAGAAGAAAATCAGAGCAGGTTGCTGGCTAAAACTTAGATATTTCGGTTTTGTTTCTGTTTTGTTTTGTTTTTTTGAGACAGAGTCTCTCATCCAGGCTGGAGTGCAGTGGTGCTGAGTGCAGTGGTGCTGGGATTATAGGCATGAGCCCCCACAACTGACCAAGATACCGCTGTTTTGAGCTGCCTTTATTTCTTTGTGTAGATTTTTTGGAATTATCTTTTGGTCTTGAGAATGTGGTATAATGGACAAAGAATTAGGTTTTATTGTCAGGTGGATCTGGGTTAAATCGTAACCTCTGGCATTTACTGGCTGAGAAGGTAAAAGTAAATATCTCAGTGTTGTAATGATTGAAATGCCTGAGTATATACTAGGTGCTCAGTATGTGTTCAGGTACTGTATTTAATTCTGGGGATTTTAAAATGAATAGATAGGCTGGGCGCAGTGGCTCACACCAGTAATCCTAGCATTTTGGGAGGCCGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGAACATCCTGGGCAACATGGTGAAACCTTGTCTCTACAAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTGCGCCTGTAGTCTCTGCTACTCAGGGCTGAGGCGGGAGGATAGCTTGAGCCTAGGAGGTCAAGGCTGCAGTGAGCCATATTCATTCCCTTGCCCTCTGGCTTGGGTGACAAAATGAGATCCTGTCTTAAAAAAAATACAAAGATGAATAGATAATCCTCATCTTCAGAGAGCTCAAAACTTAGTGGTGAATACTTGTAAATAGGTCATTATGATACCAAGCAGTACGTGCAAGGACTGAGGGCTAAAAGACTAAAACTGGAGGTAGGAGACCAATAAGGAGGCTACTGCAACGGGCCAAGCAGTAGATGATGAGAGCTTGAGTGAAGGCAGTGGTGAGAGACACAGACCGGGGAGGGAGAGGAGGTTAAGCTCTTGGTGGCTACTTGAAGAGGGCTGGGAAGCAGGAGGAAAGAAGCTGTGGTGATTTTTAGGTTGGATGGAAATGGTGAAACCACCTGAGAGAACACAGGCTGGGCCAGTTTGCGGGAAAGGTTGGTGAGCATGTGGGCATGGTGGTTGAATCATCTGTGTCTAGGCAGAAATTCCTGATAGGCAGTTGAGGAAAACAAGCTCAGTGTTGGAGTAAAAGCTTCATCAAATTAGGTTTCAGTGGTATCCCCTGACATTGGAAAAGGTATTATCTGCTAATATCTTAACATTTTCTTTTGTCTTGTATTTGCTTTCCTCTGGCAGGTGCAGAGATTCTTAGAAGAGGAGGTGTATCCCCTGTTAAAACCATATGAAAGCGTGATGAAGGTGAAAGCAGAATTATGTCTGTAGAGTTGGAAGAGAATTAAACGAAAATCATTGTTAATTGCTGAGGCATGAAAATTGTGTTACTATAATGCCTTATTTTACCTCGAGAATTGTTACCTTAAATTAGTACAGCACTTTCTTCTTCCCATGGTGCTTTCCTGTTTCTCAGTCTCACATTTCTCAACAAGGCAAAAACAAAGAGCGTTGAAGTTGACTCTGCTCTTGCATAGTAAATGTAGTTCATACTTGATCTCTGTTCTTTCAAGGCATATTTTCCAGCTGCCTCAAGTTTAGTCCTTTTCACGTGTTCATTTGCTTGTAAAGTAGCAAGAAATTTCTGGTCCTGTCTTCTAAAAGTGAATTTGATCTAGGTCTAGCAAAATAACCTGGACTCAGTGATTGAGTCAATGGTCAGATACCTTTTATTTCGGTTATTTTTGGCTAGTATAAGTGATGAAGTTTGGAACTACAGTAAATACTTAAAAAAAAAAAAAAAAAGAACCAAACCCTGATGTGACCATCAGGCTGATTGAGCTGAAGTTGTGCCCAAGCTCATTTCATCTTTTGATAAGGCTTATACAGCAGGGAAATGCTAATTGAGTATATTGATTN
|
benign
| 327,318 |
A genetic alteration at chromosome 22, position 40418743, in gene MRTFA (myocardin related transcription factor A)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
benign
|
TGTTGTCCACCTCCCCAGGCTGCACTGTGAGCTCCACAAGGGCAAATGTCTCTTCTGTTCGTTGGGAGGCGAGGGCCTTGGGGCAGTGCTTCCAGCTGAAGGACGGCACCTTCCCTGGTCCTCTCGCCCAGGCCTTGGAGACGGGAGGGCTCACAGCCACCACTGCATCCACAGTGCTTGCCCAAGACTGGTCACGCACGGAAGCATTCAATAAAAACAAACCAACCCAGGGCTAGAGACACCTATGAACAGAGAAGGCCGTCAGGGAGGCAGCAGGGGACCTGGGGTTACCTCCGCTCTGAATGAGAATGTCAAACAGGTCGTCCATCTGCTGGCTTGAGGAACCATTTTCCTGTGGGACAAAGGAAAAAAAAAAAAGAGATAAAAATCTTGAATGGGGGCTCCCAGCCCGAACTACGAATGAGGCCCCTCCCTCTGCCCCAGAATAAGCAGCCAGATCCACAGGACCCATGGGCGTGCCCGGACTCCTGGAGCCCGTCCCCTAACAACCCACTCCCCAAGGCCTCTCTGACCCTGAAGCTGGGCTTCGCCTGCCCCCTATTCCTCCGGGTGGGGCTGTAGGAGCCTCAGCCCAGCAGCCTAGGGCAGCTGCCAACACTAGCCAGGCCTAGCCCGCCTTCCTCACCTGCTGTTTGGGCTGCTGGCTCATGGCTTCCTCATAGCCAGGTGGTTCCTTCTTCAGCAGAGAAGTGGGGGTCCCAAAGAGGGGCTGCAGTGGGTGCTCCAGGTCCATCTGGGCAGAGGGGGCAGGCGCTGGAGAGCCAGGCTGGGACGAGGGCTGGACAGGAGAGCAGGGAGAGGACCAGTGGCCAGGGGGCTGGGGGTGCAGACCTGCCTTGTAGGGGGCGGGGGGCGGGGATAGGGCCAGGGCCTCTCACACTCTAGGAGGGAAGATGGGAGGCACTGGCTTTTAGGGAGCTTTCATGAAAGCCACTAGGTAGGAAGGAATACAGGATGGGGGGCCCTCAACCCTGCAGGGGGTGCCTGGCCCCTTGAGGTTTGGGAGAGGTCTCTGGGCTGGGCTGGTCACCCCCTGAGATTTCTGCAGCTTCTTTCTCTGCTTGGGGCTGCTCAGGGACCCCTGTCTCCTATCCTGAGGTACCTGTTCCTGTCACTGTCTTCTCTACCCCCAAGTTCTGCAGGACCACGAGGCTACATAAAGCCTTAGGGCAGCCTCACCTGTGGCCTGGGCTGAGAGAGGGTCTGCTGAGGGAGCTTTCCGCTGCTGACACCTTGGTGGGGACAGCTAGCCTCTCTGAGGAGAGGACCCTGAGCTGGATCCTGGCCAGAGGACCCCACAGCCTCTCCCCGGGGCAGGCTACCTCTGACCTTCACTGGCCACTCCCCACAGAGCAGCACTAGGGCAGGCCCAGCCTGGGTACGGGCTGCTCAGGAGTCCTGCTGCTGAGGTGCCGAAATGTTCTAGTCTCAACAGCCAGAGAGGTGGGGAGCTCACCAATGGCTCCGCCCTACAGCTAGGGGGTCTGAGGCAGGTCCCTTAACTTTCCTAAGTCTCAGTACCCCCCTGGTGAAGGAAGATTAAATGAAGCAAACACAAAATGTCCAGCACGAGGGGTCCCCTGGCCCAAGAGGGCTGTAGCGAGACGCTCTTCCCACCCTCCTCTGGGCCCTGCCCGGTTCCTCCCATACCCAGGTACCTGCTGGGGGCTCCCACTGGACAGGCCAGGGCTGTCTGCATTCTTATTGGTCACGGTGAGGACAAGGTGGGTCCCTGTGGAGTCGGTGATGAGGGTGGGAGGTGCAACCCCCTTGATGAGGCTGGGGCCCTGAGGCCCCAGAAGCAACTGGGGGGCGGGGACCGGCTCGGGCTCAGGCTGCAAGGCTTCCTGCTTCACCACCACGGACGGGGGCCCCGGGGCCACAGCACAAGGGTCTATGTGGTTGGTGGCTGGGGCCGCCAGGCTGGGGTTGAATGGGTGAGCGGGGCCCAGGGGCTGCTGGCTCAGCTGGCAGCTGGAGAAGCTGTTCTCCTGCTTCACGGGGGTGCCGAGGGGGGCGGGGGCGGGGGCGGGCTGCTGGGCTCGCTTCTCCTGCTCCAGCTGCAGCTTGAGCCGCTCCACCAGCTGCTGCTTCTGCCGGAGCATGCGCGTCAGCGCCTCGATCTGCTTGTCTTTCTCCTGCAGCATCTGGTCCTTGTCGCGCCCCTCTAGCTCCGCCCGCCCCCCAGGGCTCAGGCAACAGGACCCGGCCCGGGGGCCCTCCTCCTTCACGAGGATCTGCAGTGGCGAGGCCTGCAGGGTCAGCTGCGTCAGAGGTGATGTCACCATCTCACCAAAGGTGTCCCCGGGGGTGGAGTTTTCATCGCCCGTGCTGAGCAGTGAGCGCTCCGAGGGGGTGGGAGACACGGGGGGCGTGGAGCCCGTGCTGCCAAACTTCACCACCCCACTGCTGGCCACCGTGGCCACCACCACCTCAGCTGGAGCCAGGCCTGCTGCCACCAGGGCTGGCCCCGTGCTCAGCCGGGCCGCTGGGAAGGCTACCACCACCTCGCCAGCCTTGTGCAGGATAGAGGTGGCGGCAGGGGCCTTGGGGGCTCCTGGCACAGGGCTGATTTGGTCTTGATAGGCTCGAAGGCGCTCAATCAGCTCAGTTTTGGTGCCCGAGACAGGCAGTGATCGCAACTTCAGCTCCTGCTTCAGCTCTGCCACCTGCAAGGCAGTCAAGAGTCAGGGAGGCCAGGGGCAGCTGGACACAGGGCACTGGGTCCAGGCAGAAGGGCAGTCTGGGCCCCATGGGCCACTGCAGATGCATCAACTACCCTAATCCTCCAGCAGCCTGGAGGGTGCAATGCCCCCCACCACCTGAGCCAACAGCATCCTCTCTTTCATTGTTCTCACTCTAGCAGGGGTCTGGTTAAAATGCTCCCCACCTATGCAGGCAACGGGGGCTGGTACATGGTGCCCACAGCTGTCCCCAGCCCCCAGCCCCCAGCATGGTGCATGGGCTCAATAAATATTCAATGGAACAGACTGTATTTTGCAAAGAGAAAACTGAGCTCATGAAAGTAGGGCCCAGCCTGGTTCAGAGAACAAGTTCTCAAGGGAGAGCTTGGTCCAATCCATCTTCTGATGGGGCAGAGAAAACACGCAAGGCACTGGGCATGACCCACTCCTCTCCAAGGCCCTAGGATGGAAGCCAAGTCTGTGGCCCTGATCACAGGCCGCTCTCTTCCCAGGCAGACACTGCACCTGAACGGCAGAGTGAGCTCTGCATTAACCGGCAAAGGGGAAAATGCGGGCAGGGTTGCTACTGGACAGTCCTGTCTACACTGACCAGGTCTGCGACTGTGGACAAGCTCCTCCTCCTGTCACTGCCTCAGCCTGACCATCCTCAAAGGGGCACCAATCCCCACTTCTCACACTGCATGCAACACGTAAGTCGAGGAAGATAAGAGACATGCGACTGCCTGGACAGATGCTGGCTGTGCTGCCAACAACAGGAACCACCACGAGGAAGCTGGTGTCATTCACCATGACCACCTCCAGGCAGCCTCAGAGCTGTGTCCAAGGTGCCCTGTCTGATGGGGACCAGAGCCTAAAGCCCTGCTCTGCTTTCCATGACGGTGGGTCCTAGGCTGGCTGCCTTCCCTGCCTAAAAACCAGCACCCAGACAGCCCCTGTGGGAAGGGCCAGGCTGGCAGTGGCTCAAGTTTTCCAGTGGCCATGTACCTTCATGTCGTCCAGGTTGGCCGGCAGGGCTCCCGGCTTGCCAGTCAGTGAGGTGCTGTTCTGACGTGCCAGCCCACAGGGCCCAGGGGCGCCCGAGCTGGAGCTGCTATTGGTAGTGGAGAGGCTGCGTACTGGGGGGGTCCCGCTGCTTCCCAGGGCCTCGCCTGCTGACCTGGGAAGAAAAGGCAGAAATTAGCCCCATCCAGCTTCGCCCGTGGCCTCTGCAGGTGGCAGCCCAAGCCTGGGCAGCAGGATTGGGTACAGATGGGCATGGGGCAAGGGCCCAGCAAAGGCTAGGGTGGCCCTGCCTGCAGACCACTCTGTAGCATCCAGACCAGCGGGTCCTTAAAGATGTGAGGTTCACCCCCACCAGACCTGGCACCTGC
|
TGTTGTCCACCTCCCCAGGCTGCACTGTGAGCTCCACAAGGGCAAATGTCTCTTCTGTTCGTTGGGAGGCGAGGGCCTTGGGGCAGTGCTTCCAGCTGAAGGACGGCACCTTCCCTGGTCCTCTCGCCCAGGCCTTGGAGACGGGAGGGCTCACAGCCACCACTGCATCCACAGTGCTTGCCCAAGACTGGTCACGCACGGAAGCATTCAATAAAAACAAACCAACCCAGGGCTAGAGACACCTATGAACAGAGAAGGCCGTCAGGGAGGCAGCAGGGGACCTGGGGTTACCTCCGCTCTGAATGAGAATGTCAAACAGGTCGTCCATCTGCTGGCTTGAGGAACCATTTTCCTGTGGGACAAAGGAAAAAAAAAAAAGAGATAAAAATCTTGAATGGGGGCTCCCAGCCCGAACTACGAATGAGGCCCCTCCCTCTGCCCCAGAATAAGCAGCCAGATCCACAGGACCCATGGGCGTGCCCGGACTCCTGGAGCCCGTCCCCTAACAACCCACTCCCCAAGGCCTCTCTGACCCTGAAGCTGGGCTTCGCCTGCCCCCTATTCCTCCGGGTGGGGCTGTAGGAGCCTCAGCCCAGCAGCCTAGGGCAGCTGCCAACACTAGCCAGGCCTAGCCCGCCTTCCTCACCTGCTGTTTGGGCTGCTGGCTCATGGCTTCCTCATAGCCAGGTGGTTCCTTCTTCAGCAGAGAAGTGGGGGTCCCAAAGAGGGGCTGCAGTGGGTGCTCCAGGTCCATCTGGGCAGAGGGGGCAGGCGCTGGAGAGCCAGGCTGGGACGAGGGCTGGACAGGAGAGCAGGGAGAGGACCAGTGGCCAGGGGGCTGGGGGTGCAGACCTGCCTTGTAGGGGGCGGGGGGCGGGGATAGGGCCAGGGCCTCTCACACTCTAGGAGGGAAGATGGGAGGCACTGGCTTTTAGGGAGCTTTCATGAAAGCCACTAGGTAGGAAGGAATACAGGATGGGGGGCCCTCAACCCTGCAGGGGGTGCCTGGCCCCTTGAGGTTTGGGAGAGGTCTCTGGGCTGGGCTGGTCACCCCCTGAGATTTCTGCAGCTTCTTTCTCTGCTTGGGGCTGCTCAGGGACCCCTGTCTCCTATCCTGAGGTACCTGTTCCTGTCACTGTCTTCTCTACCCCCAAGTTCTGCAGGACCACGAGGCTACATAAAGCCTTAGGGCAGCCTCACCTGTGGCCTGGGCTGAGAGAGGGTCTGCTGAGGGAGCTTTCCGCTGCTGACACCTTGGTGGGGACAGCTAGCCTCTCTGAGGAGAGGACCCTGAGCTGGATCCTGGCCAGAGGACCCCACAGCCTCTCCCCGGGGCAGGCTACCTCTGACCTTCACTGGCCACTCCCCACAGAGCAGCACTAGGGCAGGCCCAGCCTGGGTACGGGCTGCTCAGGAGTCCTGCTGCTGAGGTGCCGAAATGTTCTAGTCTCAACAGCCAGAGAGGTGGGGAGCTCACCAATGGCTCCGCCCTACAGCTAGGGGGTCTGAGGCAGGTCCCTTAACTTTCCTAAGTCTCAGTACCCCCCTGGTGAAGGAAGATTAAATGAAGCAAACACAAAATGTCCAGCACGAGGGGTCCCCTGGCCCAAGAGGGCTGTAGCGAGACGCTCTTCCCACCCTCCTCTGGGCCCTGCCCGGTTCCTCCCATACCCAGGTACCTGCTGGGGGCTCCCACTGGACAGGCCAGGGCTGTCTGCATTCTTATTGGTCACGGTGAGGACAAGGTGGGTCCCTGTGGAGTCGGTGATGAGGGTGGGAGGTGCAACCCCCTTGATGAGGCTGGGGCCCTGAGGCCCCAGAAGCAACTGGGGGGCGGGGACCGGCTCGGGCTCAGGCTGCAAGGCTTCCTGCTTCACCACCACGGACGGGGGCCCCGGGGCCACAGCACAAGGGTCTATGTGGTTGGTGGCTGGGGCCGCCAGGCTGGGGTTGAATGGGTGAGCGGGGCCCAGGGGCTGCTGGCTCAGCTGGCAGCTGGAGAAGCTGTTCTCCTGCTTCACGGGGGTGCCGAGGGGGGCGGGGGCGGGGGCGGGTGCGGGCTGCTGGGCTCGCTTCTCCTGCTCCAGCTGCAGCTTGAGCCGCTCCACCAGCTGCTGCTTCTGCCGGAGCATGCGCGTCAGCGCCTCGATCTGCTTGTCTTTCTCCTGCAGCATCTGGTCCTTGTCGCGCCCCTCTAGCTCCGCCCGCCCCCCAGGGCTCAGGCAACAGGACCCGGCCCGGGGGCCCTCCTCCTTCACGAGGATCTGCAGTGGCGAGGCCTGCAGGGTCAGCTGCGTCAGAGGTGATGTCACCATCTCACCAAAGGTGTCCCCGGGGGTGGAGTTTTCATCGCCCGTGCTGAGCAGTGAGCGCTCCGAGGGGGTGGGAGACACGGGGGGCGTGGAGCCCGTGCTGCCAAACTTCACCACCCCACTGCTGGCCACCGTGGCCACCACCACCTCAGCTGGAGCCAGGCCTGCTGCCACCAGGGCTGGCCCCGTGCTCAGCCGGGCCGCTGGGAAGGCTACCACCACCTCGCCAGCCTTGTGCAGGATAGAGGTGGCGGCAGGGGCCTTGGGGGCTCCTGGCACAGGGCTGATTTGGTCTTGATAGGCTCGAAGGCGCTCAATCAGCTCAGTTTTGGTGCCCGAGACAGGCAGTGATCGCAACTTCAGCTCCTGCTTCAGCTCTGCCACCTGCAAGGCAGTCAAGAGTCAGGGAGGCCAGGGGCAGCTGGACACAGGGCACTGGGTCCAGGCAGAAGGGCAGTCTGGGCCCCATGGGCCACTGCAGATGCATCAACTACCCTAATCCTCCAGCAGCCTGGAGGGTGCAATGCCCCCCACCACCTGAGCCAACAGCATCCTCTCTTTCATTGTTCTCACTCTAGCAGGGGTCTGGTTAAAATGCTCCCCACCTATGCAGGCAACGGGGGCTGGTACATGGTGCCCACAGCTGTCCCCAGCCCCCAGCCCCCAGCATGGTGCATGGGCTCAATAAATATTCAATGGAACAGACTGTATTTTGCAAAGAGAAAACTGAGCTCATGAAAGTAGGGCCCAGCCTGGTTCAGAGAACAAGTTCTCAAGGGAGAGCTTGGTCCAATCCATCTTCTGATGGGGCAGAGAAAACACGCAAGGCACTGGGCATGACCCACTCCTCTCCAAGGCCCTAGGATGGAAGCCAAGTCTGTGGCCCTGATCACAGGCCGCTCTCTTCCCAGGCAGACACTGCACCTGAACGGCAGAGTGAGCTCTGCATTAACCGGCAAAGGGGAAAATGCGGGCAGGGTTGCTACTGGACAGTCCTGTCTACACTGACCAGGTCTGCGACTGTGGACAAGCTCCTCCTCCTGTCACTGCCTCAGCCTGACCATCCTCAAAGGGGCACCAATCCCCACTTCTCACACTGCATGCAACACGTAAGTCGAGGAAGATAAGAGACATGCGACTGCCTGGACAGATGCTGGCTGTGCTGCCAACAACAGGAACCACCACGAGGAAGCTGGTGTCATTCACCATGACCACCTCCAGGCAGCCTCAGAGCTGTGTCCAAGGTGCCCTGTCTGATGGGGACCAGAGCCTAAAGCCCTGCTCTGCTTTCCATGACGGTGGGTCCTAGGCTGGCTGCCTTCCCTGCCTAAAAACCAGCACCCAGACAGCCCCTGTGGGAAGGGCCAGGCTGGCAGTGGCTCAAGTTTTCCAGTGGCCATGTACCTTCATGTCGTCCAGGTTGGCCGGCAGGGCTCCCGGCTTGCCAGTCAGTGAGGTGCTGTTCTGACGTGCCAGCCCACAGGGCCCAGGGGCGCCCGAGCTGGAGCTGCTATTGGTAGTGGAGAGGCTGCGTACTGGGGGGGTCCCGCTGCTTCCCAGGGCCTCGCCTGCTGACCTGGGAAGAAAAGGCAGAAATTAGCCCCATCCAGCTTCGCCCGTGGCCTCTGCAGGTGGCAGCCCAAGCCTGGGCAGCAGGATTGGGTACAGATGGGCATGGGGCAAGGGCCCAGCAAAGGCTAGGGTGGCCCTGCCTGCAGACCACTCTGTAGCATCCAGACCAGCGGGTCCTTAAAGATGTGAGGTTCACCCCCACCAGACCTGGC
|
benign
| 327,348 |
Considering the variant on chromosome 22, location 41117193, involving gene EP300 (E1A binding protein p300), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Colorectal_cancer', 'Menke-Hennekam_syndrome_2', 'Neurodevelopmental_delay', 'Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations', 'Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency']
|
GGAAAGAAAACTCAAATAATTTTTATAGTAGGTTAATACTGTCAATAGGTCAATCAGGAGTAATTTTCTTCCCCCAGGGGATGTTTGGTGATGTCTGGAGACAGTTTTGATTGTCACAATTGGGATATGGGTGCTACTGGCATAAGTAGAAAGACCAGGAGTCTCCTAATGATAATAGAGGGCACAAGACAATCACCCTCCACCCACAACAAAGAATTATCACATAGCTCAAAATGTTAATAGTGCCAGGGTTGAGAAACCCTGCATTAATCTATACTTAGCACCCAGTTTTGTTTGTTCTTTTTTGAGACAGGATCTTGCTCTGTCACCCAGGCTGGAGTGCAGTTGTGCAGTTAAAGCTCACTACAACCTCAAATTCCTGGACTCAAGTAATCCTCCCACCTTAGCCTCCTGAGTGGCTAGGAGTATAGCCTAGTGCCACCACACCCAGCCGACTTTATTGTTTGTAGAGACAGGGTCTTGCTGTGTTGACCTGGGCTGAAGAATTCCTCCTGCCTTGGCCTTCTAAAGTACTGAGATTACAGGTGTGAGCTACCAGGGCTGGTCTTGCACCCTGTTTTTGGTAGGGGTGGTTTGTATGGTGAAGGAGCCAGAGGCATGGTGTTGTACCCTATTCTGGCTAGACTTTGGTTAAGGAAAGCTATTCTGTAGGCTACAGGTCAAAAACTCCGCCTGTTAAAGGCCTACTTTGAGGCAGGTACTATATAGGAACTTGGTAAAAAATGGTGGATAGCCCTCTGCTTAACTGGAGCACACACTGAGTGTTCCACAAATGACAGGTCTTTTGTATCAGTTGTGTGTCTTTATGTATTACAATATTTAAAATGTTTTCTTTCCATCCTGAGTTTAGTTTGTGTGTAGATATTTTAACTGTTCTTCTAAGGAACTTGGGAATATTAATACAGCTTAATTGCATTTCTTTTTTCCATGACTGTGGATACAAACCTTTAGCTAGCAACTCATGTAATAATGGGTGTTGCACTTTTTTTTTAACAAAAAATAAAATTTTATTTCAACTATTATGCTAATTCTATAACATTATTTAGAATGTTTTTCTTTTTTTAATTATCCTTTAAGTTTTGGGATACATGTGCAGAACGTGCAGGTTTGTTACATAGGTATACATGTGCCATGGTGGTTTGCCGCACCCATCAATCCGTCATCTACATTAGGTATTTGTCCTAATGCTATCCTCTCCTAGCCCCCCATCCCCCAGCAGGCCCTGGTGTCTGATGTTCCCCTCTCTGTGTCCATGTGTTCGTATTTAACTCCCACTTATGAGTGAGAACATGCGGTGTTTAGTTTTCTTTTCCTATGTTTTCTGAGAATGATGGTTTCCAGGCTTCATCCTTGTCCCTGCAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTTATCCAGTCTGTCATTGATGGGGGGTGTTGTACTTTCAATCCCTTTTTTCCTTGGTCTTATTTTAGGTATAGTTCTTAAGTGTTTAAGTTTGTTGATATAACCAAATATCCCCTCAATTTAAAAAATCTATAAAATGGTTTTAGTATGACCTAAAAAACTACCATACAAATAGTATATATATAGGGCTGTGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAATGCAGACAGATAGCTTCAGCTCAGGAGTGTAAGACCAGCCAGGTCAACATGGCAAGCTCCGCCTCTACTAAAAATACAAAATTTAGCTCGGTGTGGTGGTGCGCACTTGTAGTCACAGCTACTTGGGAGGCTGAGATGGTAGAATCACTTGAACCTGTGGATAGAGGTTACAGTAAGCCAAGATCGCGCACCACTGCACTCCAGCCTGTGCAACAGAGTAAGACCCTGTCTCAAATAAATAGAAAAACATGGAGTGAGGTTGGGAAATGACATTTAATGCTTATTGAGAACAATATAGAGCAGTTTTTTATTTTGGTTTTGTCATACTTTGACCTTTGTCTTTTCCCTTTGCTTTTAGATTTTGGCTCTCTATTTGACTTGGAGCACGACTTACCAGATGAATTAATCAACTCTACAGAATTGGGACTAACCAATGGTGGTGATATTAATCAGCTTCAGACAAGTCTTGGCATGGTACAAGATGCAGCTTCTAAACATAAACAGCTGTCAGAATTGCTGCGATCTGGTAGTTCCCCTAACCTCAATATGGGAGTTGGTGGCCCAGGTCAAGTCATGGCCAGCCAGGCCCAACAGAGCAGTCCTGGATTAGGTTTGATAAATAGCATGGTCAAAAGCCCAATGACACAGGCAGGCTTGACTTCTCCCAACATGGGGATGGGCACTAGTGGACCAAATCAGGGTCCTACGCAGTCAACAGGTATGATGAACAGTCCAGTAAATCAGCCTGCCATGGGAATGAACACAGGGATGAATGCGGGCATGAATCCTGGAATGTTGGCTGCAGGCAATGGACAAGGGATAATGCCTAATCAAGTCATGAACGGTTCAATTGGAGCAGGCCGAGGGCGACAGAATATGCAGTACCCAAACCCAGGCATGGGAAGTGCTGGCAACTTACTGACTGAGCCTCTTCAGCAGGGCTCTCCCCAGATGGGAGGACAAACAGGATTGAGAGGCCCCCAGCCTCTTAAGGTAAGTACAGTTTTGGTTTGTGTGCACAATCGGCATGCATGTGAGTATTGTCATGATGGATGGAGGGTTTGCCTTACATTGTATAGCAGTTTCCACTATTACACGCCAGGAATTTACTGTGCTGTCATAAGTTTTAAGAAGTGCCTGTATTTAAGTAAAACGTTTATTTTACAGCTGGTATTCTATAACTTCATACTTCCAAATGATTGCTGGCTAATGCTGGTTCTCTCTGGCACAAGTATTGGAATGTTTTTATCTCATTTCCAAGTCCAGTTTAGCCTTGTAGCCTCCTTATAAAATTACAGTTTTGAGATGGCTGGCATTACACTGTCTTCAGATGGATACTCCATTTGTTCCTATTGCTTTGAATGTCCCTGGTTTTCAAGAGATACATTTATTCTGAGAAATGTATTAACTGTTATTTTTCTTTATTGGTTGATGGAAATTAAGGTGCATTTGTTCATGTGAAACCTCAACAGTGTAGATGTTTCAGTGAACCAGAACTTGGCCAAAGACTTCTGTTAGCTTTATTAACTAGAGAATGCTAAGTATATTAAAAATATTTTAAACTTTTAAATGTGGATCCTGTATACATAAATAAGGCATAATCACACATACTTTAGTGCTTATTTCTTCATATTTTTCTTTACATATTTTATCTGTTTTTCTTAAAATGGGATCACACTATGGTTGCCAGTGCCTGGCATGTAGTTCGTTTTTGTTGAATGAGAGATGGCTTCACTTCGAAGATGAAATTGGAGATAGGTACGATTTTCACAAGGAGTCAAGAGCAAGCTTTCTCTGTAACAGGAATAATTTGAGCAGACATCAGGACTTCTGTGTTCCTGAGAATCTTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCTAGAGGATCGCTTGAGCCCAGGAGTTAAGAGACCAACCAGGTAGCATTGACCCCATCTTCTATTTAAGGGGAAAAAAAAAAAAAGAACCTTGATGGTGACAGAGAATGCAAGTGTGAATTGAAGACAGATGGACAAACTTGTGTTGGGGGGAACTGAGGTGACATGTAGGAATTCAAAAACCTTAAATTTTTTTTTGCTGCGAGAATATTGACAAGTTAGGATTCTGTTTTAGCATTCCTTTGTAGATTCTCCCTTTCTGCCCCTCACCCCCGCCACCTTTTTTTTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGGCTGGAGTGCACTGGCCTAATCATGGCTTACTGCAGCCTCAACCTACCAGGCTTAAACAGTCTTCTCGCCTCAGCCTCCTGAGTAGCTGGAACTGAAGGCACATACCACCATGCCTGGCTTATTATTATTTTTTTTTTTTTTTTTTTTTTTTTTAAGAGATGGGGTCTCACTATGTTGCTCAGGCTAATCTCA
|
GGAAAGAAAACTCAAATAATTTTTATAGTAGGTTAATACTGTCAATAGGTCAATCAGGAGTAATTTTCTTCCCCCAGGGGATGTTTGGTGATGTCTGGAGACAGTTTTGATTGTCACAATTGGGATATGGGTGCTACTGGCATAAGTAGAAAGACCAGGAGTCTCCTAATGATAATAGAGGGCACAAGACAATCACCCTCCACCCACAACAAAGAATTATCACATAGCTCAAAATGTTAATAGTGCCAGGGTTGAGAAACCCTGCATTAATCTATACTTAGCACCCAGTTTTGTTTGTTCTTTTTTGAGACAGGATCTTGCTCTGTCACCCAGGCTGGAGTGCAGTTGTGCAGTTAAAGCTCACTACAACCTCAAATTCCTGGACTCAAGTAATCCTCCCACCTTAGCCTCCTGAGTGGCTAGGAGTATAGCCTAGTGCCACCACACCCAGCCGACTTTATTGTTTGTAGAGACAGGGTCTTGCTGTGTTGACCTGGGCTGAAGAATTCCTCCTGCCTTGGCCTTCTAAAGTACTGAGATTACAGGTGTGAGCTACCAGGGCTGGTCTTGCACCCTGTTTTTGGTAGGGGTGGTTTGTATGGTGAAGGAGCCAGAGGCATGGTGTTGTACCCTATTCTGGCTAGACTTTGGTTAAGGAAAGCTATTCTGTAGGCTACAGGTCAAAAACTCCGCCTGTTAAAGGCCTACTTTGAGGCAGGTACTATATAGGAACTTGGTAAAAAATGGTGGATAGCCCTCTGCTTAACTGGAGCACACACTGAGTGTTCCACAAATGACAGGTCTTTTGTATCAGTTGTGTGTCTTTATGTATTACAATATTTAAAATGTTTTCTTTCCATCCTGAGTTTAGTTTGTGTGTAGATATTTTAACTGTTCTTCTAAGGAACTTGGGAATATTAATACAGCTTAATTGCATTTCTTTTTTCCATGACTGTGGATACAAACCTTTAGCTAGCAACTCATGTAATAATGGGTGTTGCACTTTTTTTTTAACAAAAAATAAAATTTTATTTCAACTATTATGCTAATTCTATAACATTATTTAGAATGTTTTTCTTTTTTTAATTATCCTTTAAGTTTTGGGATACATGTGCAGAACGTGCAGGTTTGTTACATAGGTATACATGTGCCATGGTGGTTTGCCGCACCCATCAATCCGTCATCTACATTAGGTATTTGTCCTAATGCTATCCTCTCCTAGCCCCCCATCCCCCAGCAGGCCCTGGTGTCTGATGTTCCCCTCTCTGTGTCCATGTGTTCGTATTTAACTCCCACTTATGAGTGAGAACATGCGGTGTTTAGTTTTCTTTTCCTATGTTTTCTGAGAATGATGGTTTCCAGGCTTCATCCTTGTCCCTGCAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTTATCCAGTCTGTCATTGATGGGGGGTGTTGTACTTTCAATCCCTTTTTTCCTTGGTCTTATTTTAGGTATAGTTCTTAAGTGTTTAAGTTTGTTGATATAACCAAATATCCCCTCAATTTAAAAAATCTATAAAATGGTTTTAGTATGACCTAAAAAACTACCATACAAATAGTATATATATAGGGCTGTGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAATGCAGACAGATAGCTTCAGCTCAGGAGTGTAAGACCAGCCAGGTCAACATGGCAAGCTCCGCCTCTACTAAAAATACAAAATTTAGCTCGGTGTGGTGGTGCGCACTTGTAGTCACAGCTACTTGGGAGGCTGAGATGGTAGAATCACTTGAACCTGTGGATAGAGGTTACAGTAAGCCAAGATCGCGCACCACTGCACTCCAGCCTGTGCAACAGAGTAAGACCCTGTCTCAAATAAATAGAAAAACATGGAGTGAGGTTGGGAAATGACATTTAATGCTTATTGAGAACAATATAGAGCAGTTTTTTATTTTGGTTTTGTCATACTTTGACCTTTGTCTTTTCCCTTTGCTTTTAGATTTTGGCTATTTGACTTGGAGCACGACTTACCAGATGAATTAATCAACTCTACAGAATTGGGACTAACCAATGGTGGTGATATTAATCAGCTTCAGACAAGTCTTGGCATGGTACAAGATGCAGCTTCTAAACATAAACAGCTGTCAGAATTGCTGCGATCTGGTAGTTCCCCTAACCTCAATATGGGAGTTGGTGGCCCAGGTCAAGTCATGGCCAGCCAGGCCCAACAGAGCAGTCCTGGATTAGGTTTGATAAATAGCATGGTCAAAAGCCCAATGACACAGGCAGGCTTGACTTCTCCCAACATGGGGATGGGCACTAGTGGACCAAATCAGGGTCCTACGCAGTCAACAGGTATGATGAACAGTCCAGTAAATCAGCCTGCCATGGGAATGAACACAGGGATGAATGCGGGCATGAATCCTGGAATGTTGGCTGCAGGCAATGGACAAGGGATAATGCCTAATCAAGTCATGAACGGTTCAATTGGAGCAGGCCGAGGGCGACAGAATATGCAGTACCCAAACCCAGGCATGGGAAGTGCTGGCAACTTACTGACTGAGCCTCTTCAGCAGGGCTCTCCCCAGATGGGAGGACAAACAGGATTGAGAGGCCCCCAGCCTCTTAAGGTAAGTACAGTTTTGGTTTGTGTGCACAATCGGCATGCATGTGAGTATTGTCATGATGGATGGAGGGTTTGCCTTACATTGTATAGCAGTTTCCACTATTACACGCCAGGAATTTACTGTGCTGTCATAAGTTTTAAGAAGTGCCTGTATTTAAGTAAAACGTTTATTTTACAGCTGGTATTCTATAACTTCATACTTCCAAATGATTGCTGGCTAATGCTGGTTCTCTCTGGCACAAGTATTGGAATGTTTTTATCTCATTTCCAAGTCCAGTTTAGCCTTGTAGCCTCCTTATAAAATTACAGTTTTGAGATGGCTGGCATTACACTGTCTTCAGATGGATACTCCATTTGTTCCTATTGCTTTGAATGTCCCTGGTTTTCAAGAGATACATTTATTCTGAGAAATGTATTAACTGTTATTTTTCTTTATTGGTTGATGGAAATTAAGGTGCATTTGTTCATGTGAAACCTCAACAGTGTAGATGTTTCAGTGAACCAGAACTTGGCCAAAGACTTCTGTTAGCTTTATTAACTAGAGAATGCTAAGTATATTAAAAATATTTTAAACTTTTAAATGTGGATCCTGTATACATAAATAAGGCATAATCACACATACTTTAGTGCTTATTTCTTCATATTTTTCTTTACATATTTTATCTGTTTTTCTTAAAATGGGATCACACTATGGTTGCCAGTGCCTGGCATGTAGTTCGTTTTTGTTGAATGAGAGATGGCTTCACTTCGAAGATGAAATTGGAGATAGGTACGATTTTCACAAGGAGTCAAGAGCAAGCTTTCTCTGTAACAGGAATAATTTGAGCAGACATCAGGACTTCTGTGTTCCTGAGAATCTTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCTAGAGGATCGCTTGAGCCCAGGAGTTAAGAGACCAACCAGGTAGCATTGACCCCATCTTCTATTTAAGGGGAAAAAAAAAAAAAGAACCTTGATGGTGACAGAGAATGCAAGTGTGAATTGAAGACAGATGGACAAACTTGTGTTGGGGGGAACTGAGGTGACATGTAGGAATTCAAAAACCTTAAATTTTTTTTTGCTGCGAGAATATTGACAAGTTAGGATTCTGTTTTAGCATTCCTTTGTAGATTCTCCCTTTCTGCCCCTCACCCCCGCCACCTTTTTTTTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGGCTGGAGTGCACTGGCCTAATCATGGCTTACTGCAGCCTCAACCTACCAGGCTTAAACAGTCTTCTCGCCTCAGCCTCCTGAGTAGCTGGAACTGAAGGCACATACCACCATGCCTGGCTTATTATTATTTTTTTTTTTTTTTTTTTTTTTTTTAAGAGATGGGGTCTCACTATGTTGCTCAGGCTAATCTCANNNN
|
pathogenic
| 327,400 |
Located at chromosome 22 position 41125844, the variant affecting gene EP300 (E1A binding protein p300)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
benign
|
TTAAAATAATTTGAAAGATTAATGAAAATGCATTTTTATAACTTTCATTATTAGTAAAACGTTTGACTTTAGAATAATGCTGTTTTTCAATTAATTATTATTATAGTATAATGGCTCCAGGTGAACTTAACATAAATATAGAACATAAACTACTTTTTAAAGTACAGAGGGAGCCGGCACAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGGCCAGCCTTGCCAACATGGCGAAACCCCGTCTCGACTGAAAGTAAAAAAATTAGCTGAGTATGGCGGCGCACGCCTGTAGTCCCAGCTACTCAGGCTGAGGCAGGATAACCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAAATTGCACCACTGCGCCCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAACAGAGAAGTACATAAGGGTTGCAAAGTCAAATGACTTGAAGGGCCAAGCAGGTGACTTAGCAGGTGACTTAATAGAGCAGCTAGGTTTAAAACAGCAAGGAATAGTGTGGAGTCTGGACTTCCGCATGCTCTATGTAAAGGAGTCAGAATCAGAAGTTTTAAAAAACACTGTCATCAGTGTCCCTACACAAAAAAGGACATATTCCCAAACCATCAGTTTTCTACTTTTTATACAAACAAAATACAGGAATAATTATTCAAATGAGGCCAAGCATGGTGGTTCACGCCTATAATCGCAGCACTTTGGGAAGCTGTGGTGGGAGGATTGCTAGAGCCCGGGAATTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTATTTTTTAATAGTCAAAAAAAAGAAGAAGAAGAAAACATTCAAATGCTTGAACATGACAAAGGGGTTAGATGGCTTATTAAGTTGAATTCGCCATGTAGCATCATGTGTGACGTAATGGAAATGAATGGCAAACCTTGTTTAACAGAATTAAATGAAGATGATTAAAAGTATTTCTAAAACATCTTTATTTCAAATATTTATGAAAATAACTCTGTACATTTACCATACCCAAGGCCCCTAAATCTTAATTTTGATCTTAATCTTGAAAATGTATTGTTGTTAGCATACTTTGTATAGTGGGTTTTTTTTGTTTGTTTGTTTTTGAGACAGGGTCTCACTCTGTTGCCGAGGCTGGAGTGCAGTGGCCTGATCATGGCTTACTTGCAGCCTCAACCTCCCAGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACATGCCACCACATCCAGCTTTTCTTTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGCGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACTCCATTCTCCTGCCTCAGCCTCCCGACTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCTATCTCCTGACCTCATGATCCTCCCGCTTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCGCCCGGCTGTTTTTTGGGGTTTTTTTTTTGTATTTTGGTACCGATGGGTTTTCACCATGTTCCCCAGGCTGTTGTCAAACTCCTGACCTCAAGAAACCCTCCTGCCTTGGCCTCGCAAAGTGGTGGGATTACAGGTATGAGTCGCCAGGCCCGGCCACTTGGTTTTTTGCCATCATGGCTCCCTACAACCTCTACCTCCCAGGCTTCACTGATAATCCCACTTTAGCCTTCCAATTAGCTGGGACTATAGGCTTGCGCCACCATGTCCAGATTTTTGTATTTTTTAGTAGAGATGGGGTTTTGTCACGTTGCCCAAGCTGTAGTGTCTTTTCTAATAGAAGCTGAGAATTTCCTTTGAAACTGTCTTTGTGAACTTGGAAGTGAAATCAGAAAAGGAATAATAATGTCTTAAATTTTATTGCTTATTTTGTTTTCTTTTGTTTCTTACTCTTAGATGGGAATGATGAACAACCCCAATCCTTATGGTTCACCATATACTCAGAATCCTGGACAGCAGATTGGAGCCAGTGGCCTTGGTCTCCAGATTCAGACAAAAACTGTACTATCAAATAACTTATCTCCATTTGCTATGGACAAAAAGGCAGTTCCTGGTGGAGGAATGCCCAACATGGTGAGTACTAATCCATTACAGACTTGTTTTCAAACTGGCATTTTGACAAAAGAATTGTGTTAAACTTTCACCCTTCTGTTATATATGCTGGGATTTGTACCCACTAGGAGCCTAAATTGATATGTACTTGATGATCCCTGTGAGGAGGCTTGTGCTTCCTTTCCATTTCTCTGTTTTTTTTGTTCCATGTGGTTATTGATCAGTGAGCATGTTGATCCAAACAGGAGTAAGTGAACTGCTACAATGAAGTTTTAGGGGCCTGCCATTCAGCAACTTGGTCTTGTGAGCGTTTCCATACGATACGAAAGCGGAACCTTTCACTTTTGGGGGAAGGAATCTCTGGCAAAGGATCCGAACTCTCAGTGACCATATTTACCAATATTATTTGATTCTACTACACCCAAGTAAATTCCCTCTCAAAAGTAATGTATTGTTTTAAACAGCAATTTTTGTTAAATAAAATTTTCAGGAACTTCTAGTGTTATTTTTGTACAGTCAAACTACTAGTAGTAAATGTGTCTGCATTCAACTTTGGAAAAACATTGTCTGAAAAAATCCTCTTTCAGATGTTTTAGTTTTGTCCTTTGTGTCATTATGTTTATGGACTGCCTATATTTGAGATACTCTGCCAAGTACTGGAGTTATACAGATGAATGAAACATGTCATCTCTGTCCCGAGAAATGTTCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTAGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCACTGCAACTTCTCCCTCCTGGTTTCAAGCAACTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGATTACAGGCATGTGCCATCATGCCCGGCTAACTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGATCTCGAACTCCCGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAACGTGCTAGGGTTACAGGCGTGAGCCACCGCGCCCGGCCTGAAATCTTCACTTTTTAATTTAAAAAACTAAATTTATCCCAGAGTTTAGAAAAACTAGTTTTTCACCAACCCGAAAGACCCCTCTGCTGAGTCTCTTGAGGAGTTCTTCATTGCTCTTTAAAACCTAATTTGGGTGTGCTTTTAACTACAGACACCCTCTCACCCTTCCCTCTCCCGCTGGAGTTTACCATGTCCTTCTCTCTGCTTTTGCTCTCTGTGTATTATACATACTTATATCACTTCGTAATGTCATTTTTTTTCTTATTAAATTGAGCTTCTTAAAGGTAGGAGCCATGGTTTATGCATTCCCTGTGTCAAAAAATGGAGTCTGGCTTATAGTAGACTAACCATAAAGGTTTTCATTGAAAATATCCACATCTCTATTTATTAAGAAATAGCACATTATGACTCCTACCATTAAATATATTGTTATATCTCTCAGGGTCAACAGCCAGCCCCGCAGGTCCAGCAGCCAGGCCTGGTGACTCCAGTTGCCCAAGGGATGGGTTCTGGAGCACATACAGCTGATCCAGAGAAGCGCAAGCTCATCCAGCAGCAGCTTGTTCTCCTTTTGCATGCTCACAAGTGCCAGCGCCGGGAACAGGCCAATGGGGAAGTGAGGCAGTGCAACCTTCCCCACTGTCGCACAATGAAGAATGTCCTAAACCACATGACACACTGCCAGTCAGGCAAGTCTTGCCAAGGTAAGTGGACCCACAGGGTTACTGTACTTAGCAATTTTTACAGCCAGGGAGAAGAAGGAAAATGTGATCAAGTCTATTTTGTGGTGATGGATATGTTTAATACCTTAATTGTGGTGATGGTGTCTGTATGTACAAAGTCACCA
|
TTAAAATAATTTGAAAGATTAATGAAAATGCATTTTTATAACTTTCATTATTAGTAAAACGTTTGACTTTAGAATAATGCTGTTTTTCAATTAATTATTATTATAGTATAATGGCTCCAGGTGAACTTAACATAAATATAGAACATAAACTACTTTTTAAAGTACAGAGGGAGCCGGCACAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCAAGGCCAGCCTTGCCAACATGGCGAAACCCCGTCTCGACTGAAAGTAAAAAAATTAGCTGAGTATGGCGGCGCACGCCTGTAGTCCCAGCTACTCAGGCTGAGGCAGGATAACCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAAATTGCACCACTGCGCCCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAACAGAGAAGTACATAAGGGTTGCAAAGTCAAATGACTTGAAGGGCCAAGCAGGTGACTTAGCAGGTGACTTAATAGAGCAGCTAGGTTTAAAACAGCAAGGAATAGTGTGGAGTCTGGACTTCCGCATGCTCTATGTAAAGGAGTCAGAATCAGAAGTTTTAAAAAACACTGTCATCAGTGTCCCTACACAAAAAAGGACATATTCCCAAACCATCAGTTTTCTACTTTTTATACAAACAAAATACAGGAATAATTATTCAAATGAGGCCAAGCATGGTGGTTCACGCCTATAATCGCAGCACTTTGGGAAGCTGTGGTGGGAGGATTGCTAGAGCCCGGGAATTTGAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTATTTTTTAATAGTCAAAAAAAAGAAGAAGAAGAAAACATTCAAATGCTTGAACATGACAAAGGGGTTAGATGGCTTATTAAGTTGAATTCGCCATGTAGCATCATGTGTGACGTAATGGAAATGAATGGCAAACCTTGTTTAACAGAATTAAATGAAGATGATTAAAAGTATTTCTAAAACATCTTTATTTCAAATATTTATGAAAATAACTCTGTACATTTACCATACCCAAGGCCCCTAAATCTTAATTTTGATCTTAATCTTGAAAATGTATTGTTGTTAGCATACTTTGTATAGTGGGTTTTTTTTGTTTGTTTGTTTTTGAGACAGGGTCTCACTCTGTTGCCGAGGCTGGAGTGCAGTGGCCTGATCATGGCTTACTTGCAGCCTCAACCTCCCAGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACATGCCACCACATCCAGCTTTTCTTTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGCGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACTCCATTCTCCTGCCTCAGCCTCCCGACTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCTATCTCCTGACCTCATGATCCTCCCGCTTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCGCCCGGCTGTTTTTTGGGGTTTTTTTTTTGTATTTTGGTACCGATGGGTTTTCACCATGTTCCCCAGGCTGTTGTCAAACTCCTGACCTCAAGAAACCCTCCTGCCTTGGCCTCGCAAAGTGGTGGGATTACAGGTATGAGTCGCCAGGCCCGGCCACTTGGTTTTTTGCCATCATGGCTCCCTACAACCTCTACCTCCCAGGCTTCACTGATAATCCCACTTTAGCCTTCCAATTAGCTGGGACTATAGGCTTGCGCCACCATGTCCAGATTTTTGTATTTTTTAGTAGAGATGGGGTTTTGTCACGTTGCCCAAGCTGTAGTGTCTTTTCTAATAGAAGCTGAGAATTTCCTTTGAAACTGTCTTTGTGAACTTGGAAGTGAAATCAGAAAAGGAATAATAATGTCTTAAATTTTATTGCTTATTTTGTTTTCTACTCTTAGATGGGAATGATGAACAACCCCAATCCTTATGGTTCACCATATACTCAGAATCCTGGACAGCAGATTGGAGCCAGTGGCCTTGGTCTCCAGATTCAGACAAAAACTGTACTATCAAATAACTTATCTCCATTTGCTATGGACAAAAAGGCAGTTCCTGGTGGAGGAATGCCCAACATGGTGAGTACTAATCCATTACAGACTTGTTTTCAAACTGGCATTTTGACAAAAGAATTGTGTTAAACTTTCACCCTTCTGTTATATATGCTGGGATTTGTACCCACTAGGAGCCTAAATTGATATGTACTTGATGATCCCTGTGAGGAGGCTTGTGCTTCCTTTCCATTTCTCTGTTTTTTTTGTTCCATGTGGTTATTGATCAGTGAGCATGTTGATCCAAACAGGAGTAAGTGAACTGCTACAATGAAGTTTTAGGGGCCTGCCATTCAGCAACTTGGTCTTGTGAGCGTTTCCATACGATACGAAAGCGGAACCTTTCACTTTTGGGGGAAGGAATCTCTGGCAAAGGATCCGAACTCTCAGTGACCATATTTACCAATATTATTTGATTCTACTACACCCAAGTAAATTCCCTCTCAAAAGTAATGTATTGTTTTAAACAGCAATTTTTGTTAAATAAAATTTTCAGGAACTTCTAGTGTTATTTTTGTACAGTCAAACTACTAGTAGTAAATGTGTCTGCATTCAACTTTGGAAAAACATTGTCTGAAAAAATCCTCTTTCAGATGTTTTAGTTTTGTCCTTTGTGTCATTATGTTTATGGACTGCCTATATTTGAGATACTCTGCCAAGTACTGGAGTTATACAGATGAATGAAACATGTCATCTCTGTCCCGAGAAATGTTCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTAGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCACTGCAACTTCTCCCTCCTGGTTTCAAGCAACTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGATTACAGGCATGTGCCATCATGCCCGGCTAACTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGATCTCGAACTCCCGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAACGTGCTAGGGTTACAGGCGTGAGCCACCGCGCCCGGCCTGAAATCTTCACTTTTTAATTTAAAAAACTAAATTTATCCCAGAGTTTAGAAAAACTAGTTTTTCACCAACCCGAAAGACCCCTCTGCTGAGTCTCTTGAGGAGTTCTTCATTGCTCTTTAAAACCTAATTTGGGTGTGCTTTTAACTACAGACACCCTCTCACCCTTCCCTCTCCCGCTGGAGTTTACCATGTCCTTCTCTCTGCTTTTGCTCTCTGTGTATTATACATACTTATATCACTTCGTAATGTCATTTTTTTTCTTATTAAATTGAGCTTCTTAAAGGTAGGAGCCATGGTTTATGCATTCCCTGTGTCAAAAAATGGAGTCTGGCTTATAGTAGACTAACCATAAAGGTTTTCATTGAAAATATCCACATCTCTATTTATTAAGAAATAGCACATTATGACTCCTACCATTAAATATATTGTTATATCTCTCAGGGTCAACAGCCAGCCCCGCAGGTCCAGCAGCCAGGCCTGGTGACTCCAGTTGCCCAAGGGATGGGTTCTGGAGCACATACAGCTGATCCAGAGAAGCGCAAGCTCATCCAGCAGCAGCTTGTTCTCCTTTTGCATGCTCACAAGTGCCAGCGCCGGGAACAGGCCAATGGGGAAGTGAGGCAGTGCAACCTTCCCCACTGTCGCACAATGAAGAATGTCCTAAACCACATGACACACTGCCAGTCAGGCAAGTCTTGCCAAGGTAAGTGGACCCACAGGGTTACTGTACTTAGCAATTTTTACAGCCAGGGAGAAGAAGGAAAATGTGATCAAGTCTATTTTGTGGTGATGGATATGTTTAATACCTTAATTGTGGTGATGGTGTCTGTATGTACAAAGTCACCANNNNNNNNNN
|
benign
| 327,420 |
Determine if the mutation at chromosome 22, position 41147928 in gene EP300 (E1A binding protein p300) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency']
|
CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGATATTTTATTTTTTTAAGAATTATTTCTGTTTTTGTATTTAAGAGGTACATGATATGTAGTGTGGTATAATATGCATATTATTTAAAATCAATGTTCACAGTTTATGTGCATAAAAACGTTGTGCTACATGATCAAATTCGGCCACCATTAGACATGATTCATAGCTATTATCCATGGAGATACTCTGTTGCATGCCAACCAGACTCAGACTTTGTTAAACAATAACATATTAAATGCTATGATGGCCTCAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCCATCGCCCAGGCTGGAGTGCAGTCGTGTGATCTTGGCTCACTGCAACCTCCGCCTTCCAGGTTCATGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCTAGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACTGTGCCTGGCCTATAATGGCTTCAATAGCTTATTTTTCTATCAACATTGAAAGCACCCGGGCTCATAAAGGAATACCAACAAATCCACTTGGAGGCATTTTTCTGTATTCCAGAAATAACATTTTCTTCAAGCTTCTGTCTAGTTCAGAGCTTTATTTTGTGATTCATACTCAATTTTCAAAGGTATTATTAAAAATATTTTGTGGGGTTTGTGTGTGCAGTGAGTTTTTGTTTGGTTAAGGGAAGATGGTGCAAAGATACTTATTTCTCTTTTTTACTCTAGATGGCCCTCTACCTGACCCAAGTATGATCCGTGGCAGTGTGCCAAACCAGATGATGCCTCGAATAACTCCACAATCTGGTAAATAGTGAAAAAAATTTTTTTATTTTAAAAGAATCCCCGGTGTACTGCAAGATAATACTTGCTACCTGAACACCCGCTTTATGCCAACAGCAAGTGTCATGATTACCTGCCCATAGAGGAAGAGGGGGTGAAGAGCAGGTTGGCTGGCAGATCACAGGGCAGGTGACATTAAATGATCAAGTATCCATTAAAAAACAACTGCAGGCTGGGCATGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGTACCACCTGAGGTCAAAGTACGAGACCAGCCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGTTGTAGTGGCACGGGCCTGTAATCCCATTTACTCTGGAGGCTGAGGCTGGAGAATCACTTGAACCCAGGAGGCGGAGTTTGCAGTGAGGCGAGATCGCGCCACTGGACCCCAGCCTGAGTGACAGCAAGACTTCGTCTCAAAAAAAAAAAAAAAAGCAGATTGTAAAATTTGTAAAATTCAGTTTGGAGATCCTGTTAGTTGATAATGTCTGTTTACTGCTACTGTGAATGAGACAGATTTATTTATACTTAGAAGGTTGAAAGCCAGTTTATTAGTCCTGATAGAATCAGGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATAGAGACCATCCTGGCTAACACAGTGAAACCCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGTGGCAGAGCTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAGATACAGAATCAGACATAAGAATTCTATCTTTTATTATTCAATTTCACAAAGGCATTCAGATCTAACATTTTGCTCATATTCACAGGTTTGAATCAATTTGGCCAGATGAGCATGGCCCAGCCCCCTATTGTACCCCGGCAAACCCCTCCTCTTCAGCACCATGGACAGTTGGCTCAACCTGGAGCTCTCAACCCGGTTAGTTTGACGTCTTTGGTAATCTCTTTGGCCTTTACCTGGTATTTTGAAAATCCTGTTTGTTCCTACTTTATAAATTCTCACAGTCATTTAAACAGACCATAACTCCTAGTTCTTCTGTAATTCTTCTGTATTTAACTCTACTAGAAAGCTGACCAAAAAACGAAAACAGCCAGTCCCTTGTCCCTGGAGTGTCAGTGTTTAGTGGCCTGCATGCGTTTTCACGGTCACTTCTCTTCCCTGATGTCTGTCTTCCCTCCTCCAGGCAGAGAACTGTCTTGCAAGGTTGATGGTGCGTTTTTGCCTGGTTCTTGAACTCGGAGAAGAGAGACTAGGCTTCTCCTGCTCCTTATGCGAACTCTTAACCAGTCCATCTCTCTACCTTGACCCTAACCCTCCTGCTGCCCTTTAGAGTTAGCTGGTGCCTCTGATTCTTGACCCTTTTGGGGGTTCCTGAGCATTACTACTTCTCACTAATCTGCCATTTTCAACAGGGAGTTCTGTCCTTCATTTTAACCTATAAGACAGATGGTCTTAGCTTATGAAGTTTTTGGCCTTTGGTACTCGAGATTTCTTTCTTTAAGGCCTGAATTTGTGTAGGGTAATTTTGGAAATGACATGTAACAGTGCTAGAGCATTTGTGGACCATGAATGCTACCAGATTCTGCTACAACTTGTAAGATTTTCTTGTTTTTACATATTATGGGTCTTAGAATTTGTGTTATTACATCACTGACATGACCTCATGAAATTGTGATTAACTCTCCTCACTTAACAGAGCATGCAAAGAAAATTACCTGCTATCCTTGTGCTAGGCATATTTGTGTACCAAGAGAATGTGTGTTCCATCCTCTTACTATTTCTTGGAGTAGGCCTAGGTAAACTGTGAGGCTATTTCTCTTTATCTTGGCACAAGAGTCAGTTGTTCTACAACTTTCTTCCTTCTCCTCTTCAGCCCTCTTCACCTATACTCCTGTCTTTGGCTTTTCTCTACTTAATAAGCCTGACGTTAGGAGCATTTGATGATTTTAGTTATAGTAGAATAACTATAATGAAGCAGTTTGGTGATTTGTGTTTTTTTTTTTTTTCAGCCTATGGGCTATGGGCCTCGTATGCAACAGCCTTCCAACCAGGGCCAGTTCCTTCCTCAGACTCAGTTCCCATCACAGGGAATGAATGTAACAAATATCCCTTTGGCTCCGTCCAGCGGTCAAGCTCCAGTGTCTCAAGTATGTCTCATAAGTGGATTTTTCACTTATTTTTGATTCTTGAAACTTCTCTTGATGTAGGTTTTTATAGGAGAGAGTGGCAGCAAATAGTGGGTGAAAACAGATGATTTTTTAAAAAATAACAATTTTGGACTTAGGGTATTCTGAACATGAAGAGATTATTCTGTGACATAGCAATGGTGTTAATTGTTACAAAGTAGGAAATAATTTAAATGGATAGTTTTAATTGTTTTTACTAGTGAACACTTTAAAATAAATCTTAGAATTAAACACAATGTAGAAGGAAATCTGGCTGAAAAGAGCATAGGCAGGCCCTAGAGCACTCTGCACTCAATTCTGCCATTTTTCTGCGGTGGCTGAGGCCATTCTGCTGAATGGTTTGAAGTCTCTTTAGTTAAGTACTATCTTGATGGTGCTGTCCAAAGATACATGCCCAGTAATAGGGTATTTTACACATTTTGAAATAGACACATTGCTACTCTTTGTTTAATCAGTTTGTGTCCTAAATTTATATATCATGCCTATGTAAGTATTTCCTTAATTCTGTTCTGAATTGCTGTCTTGTTATGTTTTTTATTTTAACAGGCACAAATGTCTAGTTCTTCCTGCCCGGTGAACTCTCCTATAATGCCTCCAGGGTCTCAGGGGAGCCACATTCACTGTCCCCAGCTTCCTCAACCAGCTCTTCATCAGAATTCACCCTCGCCTGTACCTAGTCGTACCCCCACCCCTCACCATACTCCCCCAAGCATAGGGGCTCAGCAGCCACCAGCAACAACAATTCCAGCCCCTGTTCCTAC
|
CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGATATTTTATTTTTTTAAGAATTATTTCTGTTTTTGTATTTAAGAGGTACATGATATGTAGTGTGGTATAATATGCATATTATTTAAAATCAATGTTCACAGTTTATGTGCATAAAAACGTTGTGCTACATGATCAAATTCGGCCACCATTAGACATGATTCATAGCTATTATCCATGGAGATACTCTGTTGCATGCCAACCAGACTCAGACTTTGTTAAACAATAACATATTAAATGCTATGATGGCCTCAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCCATCGCCCAGGCTGGAGTGCAGTCGTGTGATCTTGGCTCACTGCAACCTCCGCCTTCCAGGTTCATGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCTAGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACTGTGCCTGGCCTATAATGGCTTCAATAGCTTATTTTTCTATCAACATTGAAAGCACCCGGGCTCATAAAGGAATACCAACAAATCCACTTGGAGGCATTTTTCTGTATTCCAGAAATAACATTTTCTTCAAGCTTCTGTCTAGTTCAGAGCTTTATTTTGTGATTCATACTCAATTTTCAAAGGTATTATTAAAAATATTTTGTGGGGTTTGTGTGTGCAGTGAGTTTTTGTTTGGTTAAGGGAAGATGGTGCAAAGATACTTATTTCTCTTTTTTACTCTAGATGGCCCTCTACCTGACCCAAGTATGATCCGTGGCAGTGTGCCAAACCAGATGATGCCTCGAATAACTCCACAATCTGGTAAATAGTGAAAAAAATTTTTTTATTTTAAAAGAATCCCCGGTGTACTGCAAGATAATACTTGCTACCTGAACACCCGCTTTATGCCAACAGCAAGTGTCATGATTACCTGCCCATAGAGGAAGAGGGGGTGAAGAGCAGGTTGGCTGGCAGATCACAGGGCAGGTGACATTAAATGATCAAGTATCCATTAAAAAACAACTGCAGGCTGGGCATGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGTGTACCACCTGAGGTCAAAGTACGAGACCAGCCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGTTGTAGTGGCACGGGCCTGTAATCCCATTTACTCTGGAGGCTGAGGCTGGAGAATCACTTGAACCCAGGAGGCGGAGTTTGCAGTGAGGCGAGATCGCGCCACTGGACCCCAGCCTGAGTGACAGCAAGACTTCGTCTCAAAAAAAAAAAAAAAAGCAGATTGTAAAATTTGTAAAATTCAGTTTGGAGATCCTGTTAGTTGATAATGTCTGTTTACTGCTACTGTGAATGAGACAGATTTATTTATACTTAGAAGGTTGAAAGCCAGTTTATTAGTCCTGATAGAATCAGGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATAGAGACCATCCTGGCTAACACAGTGAAACCCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGTGGCAGAGCTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAGATACAGAATCAGACATAAGAATTCTATCTTTTATTATTCAATTTCACAAAGGCATTCAGATCTAACATTTTGCTCATATTCACAGGTTTGAATCAATTTGGCCAGATGAGCATGGCCCAGCCCCCTATTGTACCCCGGCAAACCCCTCCTCTTCAGCACCATGGACAGTTGGCTCAACTGGAGCTCTCAACCCGGTTAGTTTGACGTCTTTGGTAATCTCTTTGGCCTTTACCTGGTATTTTGAAAATCCTGTTTGTTCCTACTTTATAAATTCTCACAGTCATTTAAACAGACCATAACTCCTAGTTCTTCTGTAATTCTTCTGTATTTAACTCTACTAGAAAGCTGACCAAAAAACGAAAACAGCCAGTCCCTTGTCCCTGGAGTGTCAGTGTTTAGTGGCCTGCATGCGTTTTCACGGTCACTTCTCTTCCCTGATGTCTGTCTTCCCTCCTCCAGGCAGAGAACTGTCTTGCAAGGTTGATGGTGCGTTTTTGCCTGGTTCTTGAACTCGGAGAAGAGAGACTAGGCTTCTCCTGCTCCTTATGCGAACTCTTAACCAGTCCATCTCTCTACCTTGACCCTAACCCTCCTGCTGCCCTTTAGAGTTAGCTGGTGCCTCTGATTCTTGACCCTTTTGGGGGTTCCTGAGCATTACTACTTCTCACTAATCTGCCATTTTCAACAGGGAGTTCTGTCCTTCATTTTAACCTATAAGACAGATGGTCTTAGCTTATGAAGTTTTTGGCCTTTGGTACTCGAGATTTCTTTCTTTAAGGCCTGAATTTGTGTAGGGTAATTTTGGAAATGACATGTAACAGTGCTAGAGCATTTGTGGACCATGAATGCTACCAGATTCTGCTACAACTTGTAAGATTTTCTTGTTTTTACATATTATGGGTCTTAGAATTTGTGTTATTACATCACTGACATGACCTCATGAAATTGTGATTAACTCTCCTCACTTAACAGAGCATGCAAAGAAAATTACCTGCTATCCTTGTGCTAGGCATATTTGTGTACCAAGAGAATGTGTGTTCCATCCTCTTACTATTTCTTGGAGTAGGCCTAGGTAAACTGTGAGGCTATTTCTCTTTATCTTGGCACAAGAGTCAGTTGTTCTACAACTTTCTTCCTTCTCCTCTTCAGCCCTCTTCACCTATACTCCTGTCTTTGGCTTTTCTCTACTTAATAAGCCTGACGTTAGGAGCATTTGATGATTTTAGTTATAGTAGAATAACTATAATGAAGCAGTTTGGTGATTTGTGTTTTTTTTTTTTTTCAGCCTATGGGCTATGGGCCTCGTATGCAACAGCCTTCCAACCAGGGCCAGTTCCTTCCTCAGACTCAGTTCCCATCACAGGGAATGAATGTAACAAATATCCCTTTGGCTCCGTCCAGCGGTCAAGCTCCAGTGTCTCAAGTATGTCTCATAAGTGGATTTTTCACTTATTTTTGATTCTTGAAACTTCTCTTGATGTAGGTTTTTATAGGAGAGAGTGGCAGCAAATAGTGGGTGAAAACAGATGATTTTTTAAAAAATAACAATTTTGGACTTAGGGTATTCTGAACATGAAGAGATTATTCTGTGACATAGCAATGGTGTTAATTGTTACAAAGTAGGAAATAATTTAAATGGATAGTTTTAATTGTTTTTACTAGTGAACACTTTAAAATAAATCTTAGAATTAAACACAATGTAGAAGGAAATCTGGCTGAAAAGAGCATAGGCAGGCCCTAGAGCACTCTGCACTCAATTCTGCCATTTTTCTGCGGTGGCTGAGGCCATTCTGCTGAATGGTTTGAAGTCTCTTTAGTTAAGTACTATCTTGATGGTGCTGTCCAAAGATACATGCCCAGTAATAGGGTATTTTACACATTTTGAAATAGACACATTGCTACTCTTTGTTTAATCAGTTTGTGTCCTAAATTTATATATCATGCCTATGTAAGTATTTCCTTAATTCTGTTCTGAATTGCTGTCTTGTTATGTTTTTTATTTTAACAGGCACAAATGTCTAGTTCTTCCTGCCCGGTGAACTCTCCTATAATGCCTCCAGGGTCTCAGGGGAGCCACATTCACTGTCCCCAGCTTCCTCAACCAGCTCTTCATCAGAATTCACCCTCGCCTGTACCTAGTCGTACCCCCACCCCTCACCATACTCCCCCAAGCATAGGGGCTCAGCAGCCACCAGCAACAACAATTCCAGCCCCTGTTCCTACN
|
pathogenic
| 327,466 |
Variant in EP300 (E1A binding protein p300), chromosome 22, position 41149128—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency']
|
GTACCACCTGAGGTCAAAGTACGAGACCAGCCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGTTGTAGTGGCACGGGCCTGTAATCCCATTTACTCTGGAGGCTGAGGCTGGAGAATCACTTGAACCCAGGAGGCGGAGTTTGCAGTGAGGCGAGATCGCGCCACTGGACCCCAGCCTGAGTGACAGCAAGACTTCGTCTCAAAAAAAAAAAAAAAAGCAGATTGTAAAATTTGTAAAATTCAGTTTGGAGATCCTGTTAGTTGATAATGTCTGTTTACTGCTACTGTGAATGAGACAGATTTATTTATACTTAGAAGGTTGAAAGCCAGTTTATTAGTCCTGATAGAATCAGGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATAGAGACCATCCTGGCTAACACAGTGAAACCCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGTGGCAGAGCTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAGATACAGAATCAGACATAAGAATTCTATCTTTTATTATTCAATTTCACAAAGGCATTCAGATCTAACATTTTGCTCATATTCACAGGTTTGAATCAATTTGGCCAGATGAGCATGGCCCAGCCCCCTATTGTACCCCGGCAAACCCCTCCTCTTCAGCACCATGGACAGTTGGCTCAACCTGGAGCTCTCAACCCGGTTAGTTTGACGTCTTTGGTAATCTCTTTGGCCTTTACCTGGTATTTTGAAAATCCTGTTTGTTCCTACTTTATAAATTCTCACAGTCATTTAAACAGACCATAACTCCTAGTTCTTCTGTAATTCTTCTGTATTTAACTCTACTAGAAAGCTGACCAAAAAACGAAAACAGCCAGTCCCTTGTCCCTGGAGTGTCAGTGTTTAGTGGCCTGCATGCGTTTTCACGGTCACTTCTCTTCCCTGATGTCTGTCTTCCCTCCTCCAGGCAGAGAACTGTCTTGCAAGGTTGATGGTGCGTTTTTGCCTGGTTCTTGAACTCGGAGAAGAGAGACTAGGCTTCTCCTGCTCCTTATGCGAACTCTTAACCAGTCCATCTCTCTACCTTGACCCTAACCCTCCTGCTGCCCTTTAGAGTTAGCTGGTGCCTCTGATTCTTGACCCTTTTGGGGGTTCCTGAGCATTACTACTTCTCACTAATCTGCCATTTTCAACAGGGAGTTCTGTCCTTCATTTTAACCTATAAGACAGATGGTCTTAGCTTATGAAGTTTTTGGCCTTTGGTACTCGAGATTTCTTTCTTTAAGGCCTGAATTTGTGTAGGGTAATTTTGGAAATGACATGTAACAGTGCTAGAGCATTTGTGGACCATGAATGCTACCAGATTCTGCTACAACTTGTAAGATTTTCTTGTTTTTACATATTATGGGTCTTAGAATTTGTGTTATTACATCACTGACATGACCTCATGAAATTGTGATTAACTCTCCTCACTTAACAGAGCATGCAAAGAAAATTACCTGCTATCCTTGTGCTAGGCATATTTGTGTACCAAGAGAATGTGTGTTCCATCCTCTTACTATTTCTTGGAGTAGGCCTAGGTAAACTGTGAGGCTATTTCTCTTTATCTTGGCACAAGAGTCAGTTGTTCTACAACTTTCTTCCTTCTCCTCTTCAGCCCTCTTCACCTATACTCCTGTCTTTGGCTTTTCTCTACTTAATAAGCCTGACGTTAGGAGCATTTGATGATTTTAGTTATAGTAGAATAACTATAATGAAGCAGTTTGGTGATTTGTGTTTTTTTTTTTTTTCAGCCTATGGGCTATGGGCCTCGTATGCAACAGCCTTCCAACCAGGGCCAGTTCCTTCCTCAGACTCAGTTCCCATCACAGGGAATGAATGTAACAAATATCCCTTTGGCTCCGTCCAGCGGTCAAGCTCCAGTGTCTCAAGTATGTCTCATAAGTGGATTTTTCACTTATTTTTGATTCTTGAAACTTCTCTTGATGTAGGTTTTTATAGGAGAGAGTGGCAGCAAATAGTGGGTGAAAACAGATGATTTTTTAAAAAATAACAATTTTGGACTTAGGGTATTCTGAACATGAAGAGATTATTCTGTGACATAGCAATGGTGTTAATTGTTACAAAGTAGGAAATAATTTAAATGGATAGTTTTAATTGTTTTTACTAGTGAACACTTTAAAATAAATCTTAGAATTAAACACAATGTAGAAGGAAATCTGGCTGAAAAGAGCATAGGCAGGCCCTAGAGCACTCTGCACTCAATTCTGCCATTTTTCTGCGGTGGCTGAGGCCATTCTGCTGAATGGTTTGAAGTCTCTTTAGTTAAGTACTATCTTGATGGTGCTGTCCAAAGATACATGCCCAGTAATAGGGTATTTTACACATTTTGAAATAGACACATTGCTACTCTTTGTTTAATCAGTTTGTGTCCTAAATTTATATATCATGCCTATGTAAGTATTTCCTTAATTCTGTTCTGAATTGCTGTCTTGTTATGTTTTTTATTTTAACAGGCACAAATGTCTAGTTCTTCCTGCCCGGTGAACTCTCCTATAATGCCTCCAGGGTCTCAGGGGAGCCACATTCACTGTCCCCAGCTTCCTCAACCAGCTCTTCATCAGAATTCACCCTCGCCTGTACCTAGTCGTACCCCCACCCCTCACCATACTCCCCCAAGCATAGGGGCTCAGCAGCCACCAGCAACAACAATTCCAGCCCCTGTTCCTACACCTCCTGCCATGCCACCTGGGCCACAGTCCCAGGCTCTACATCCCCCTCCAAGGCAGACACCTACACCACCAACAACACAACTTCCCCAACAAGTGCAGCCTTCACTTCCTGCTGCACCTTCTGCTGACCAGCCCCAGCAGCAGCCTCGCTCACAGCAGAGCACAGCAGCGTCTGTTCCTACCCCAACAGCACCGCTGCTTCCTCCGCAGCCTGCAACTCCAGTAAGTAGAGATTTGGATTTAGGCAGAATCATTAGAGCTATACTGTAGTATTATATTACTTCTGGGCCATTTCCATTCTCTTTTGCTTTATCTCTTACTGTTTTCTCCACAAGTAGAATGTAATCTATTTTTCATTAGGGACTTTTGTATCCTGTTTTGCCTTCCTGTGATAGTACCTATCGTAGCAGGAGCATAAAGATTTTATTTAGCTCTGACTTTGACCATTATGTTTCATGTTGTACCCTGAGGTCTGAAGGTACGTAAAGGGGTACGACAAGGGGACACAATCCTTCTCCTTATTTAGTATATTATTTAGTGCAGCACATAAATTTTACATATATTTAAGGAATCTTTTTCAAACAGTTTGAGCCATAAAACCTAGAGATTGAATTTAAAAATTGCAGATTTGGACGGGCGCGGTGGTGTACACTTTTCATCCTAGCACTTTGGGAGGCTGTGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAAATAACAAAAATTAGCCAGACATGGTAGCGGGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCTTGAACCTGGGAGGTGGAGGTTGCAGTGATCCGAGATTGCGCCACTGCACTCTAGCCTAGGCGACAGAGTGAAACTCCGTCTAAAAAAAAAAAAAAAAATTGCAGATTTATGAGTCCTTGTGGCCCAAACCAAAGTTTAAAAATAAGATGAGAGAATTATAGACCCAGAACAACCTGTAGCTTCCTTGTGAGAGGTTGGTTATGTATATAATAAAAATCCAAATTCTCATCTAATAGTTGAATCCTTATTAATAGAACTTTTTTTAAGGGTTTAGAAGCTTCTACTTTGATACCGATATTAATATATATCGGTATCCAATAGTTCTCAGCCATGTTGATGAACTGAGAAGTTCCATGAGTCACAGCCG
|
GTACCACCTGAGGTCAAAGTACGAGACCAGCCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCCGGTTGTAGTGGCACGGGCCTGTAATCCCATTTACTCTGGAGGCTGAGGCTGGAGAATCACTTGAACCCAGGAGGCGGAGTTTGCAGTGAGGCGAGATCGCGCCACTGGACCCCAGCCTGAGTGACAGCAAGACTTCGTCTCAAAAAAAAAAAAAAAAGCAGATTGTAAAATTTGTAAAATTCAGTTTGGAGATCCTGTTAGTTGATAATGTCTGTTTACTGCTACTGTGAATGAGACAGATTTATTTATACTTAGAAGGTTGAAAGCCAGTTTATTAGTCCTGATAGAATCAGGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATAGAGACCATCCTGGCTAACACAGTGAAACCCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGTGGCAGAGCTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAGATACAGAATCAGACATAAGAATTCTATCTTTTATTATTCAATTTCACAAAGGCATTCAGATCTAACATTTTGCTCATATTCACAGGTTTGAATCAATTTGGCCAGATGAGCATGGCCCAGCCCCCTATTGTACCCCGGCAAACCCCTCCTCTTCAGCACCATGGACAGTTGGCTCAACCTGGAGCTCTCAACCCGGTTAGTTTGACGTCTTTGGTAATCTCTTTGGCCTTTACCTGGTATTTTGAAAATCCTGTTTGTTCCTACTTTATAAATTCTCACAGTCATTTAAACAGACCATAACTCCTAGTTCTTCTGTAATTCTTCTGTATTTAACTCTACTAGAAAGCTGACCAAAAAACGAAAACAGCCAGTCCCTTGTCCCTGGAGTGTCAGTGTTTAGTGGCCTGCATGCGTTTTCACGGTCACTTCTCTTCCCTGATGTCTGTCTTCCCTCCTCCAGGCAGAGAACTGTCTTGCAAGGTTGATGGTGCGTTTTTGCCTGGTTCTTGAACTCGGAGAAGAGAGACTAGGCTTCTCCTGCTCCTTATGCGAACTCTTAACCAGTCCATCTCTCTACCTTGACCCTAACCCTCCTGCTGCCCTTTAGAGTTAGCTGGTGCCTCTGATTCTTGACCCTTTTGGGGGTTCCTGAGCATTACTACTTCTCACTAATCTGCCATTTTCAACAGGGAGTTCTGTCCTTCATTTTAACCTATAAGACAGATGGTCTTAGCTTATGAAGTTTTTGGCCTTTGGTACTCGAGATTTCTTTCTTTAAGGCCTGAATTTGTGTAGGGTAATTTTGGAAATGACATGTAACAGTGCTAGAGCATTTGTGGACCATGAATGCTACCAGATTCTGCTACAACTTGTAAGATTTTCTTGTTTTTACATATTATGGGTCTTAGAATTTGTGTTATTACATCACTGACATGACCTCATGAAATTGTGATTAACTCTCCTCACTTAACAGAGCATGCAAAGAAAATTACCTGCTATCCTTGTGCTAGGCATATTTGTGTACCAAGAGAATGTGTGTTCCATCCTCTTACTATTTCTTGGAGTAGGCCTAGGTAAACTGTGAGGCTATTTCTCTTTATCTTGGCACAAGAGTCAGTTGTTCTACAACTTTCTTCCTTCTCCTCTTCAGCCCTCTTCACCTATACTCCTGTCTTTGGCTTTTCTCTACTTAATAAGCCTGACGTTAGGAGCATTTGATGATTTTAGTTATAGTAGAATAACTATAATGAAGCAGTTTGGTGATTTGTGTTTTTTTTTTTTTTCAGCCTATGGGCTATGGGCCTCGTATGCAACAGCCTTCCAACCAGGGCCAGTTCCTTCCTCAGACTCAGTTCCCATCACAGGGAATGAATGTAACCAAATATCCCTTTGGCTCCGTCCAGCGGTCAAGCTCCAGTGTCTCAAGTATGTCTCATAAGTGGATTTTTCACTTATTTTTGATTCTTGAAACTTCTCTTGATGTAGGTTTTTATAGGAGAGAGTGGCAGCAAATAGTGGGTGAAAACAGATGATTTTTTAAAAAATAACAATTTTGGACTTAGGGTATTCTGAACATGAAGAGATTATTCTGTGACATAGCAATGGTGTTAATTGTTACAAAGTAGGAAATAATTTAAATGGATAGTTTTAATTGTTTTTACTAGTGAACACTTTAAAATAAATCTTAGAATTAAACACAATGTAGAAGGAAATCTGGCTGAAAAGAGCATAGGCAGGCCCTAGAGCACTCTGCACTCAATTCTGCCATTTTTCTGCGGTGGCTGAGGCCATTCTGCTGAATGGTTTGAAGTCTCTTTAGTTAAGTACTATCTTGATGGTGCTGTCCAAAGATACATGCCCAGTAATAGGGTATTTTACACATTTTGAAATAGACACATTGCTACTCTTTGTTTAATCAGTTTGTGTCCTAAATTTATATATCATGCCTATGTAAGTATTTCCTTAATTCTGTTCTGAATTGCTGTCTTGTTATGTTTTTTATTTTAACAGGCACAAATGTCTAGTTCTTCCTGCCCGGTGAACTCTCCTATAATGCCTCCAGGGTCTCAGGGGAGCCACATTCACTGTCCCCAGCTTCCTCAACCAGCTCTTCATCAGAATTCACCCTCGCCTGTACCTAGTCGTACCCCCACCCCTCACCATACTCCCCCAAGCATAGGGGCTCAGCAGCCACCAGCAACAACAATTCCAGCCCCTGTTCCTACACCTCCTGCCATGCCACCTGGGCCACAGTCCCAGGCTCTACATCCCCCTCCAAGGCAGACACCTACACCACCAACAACACAACTTCCCCAACAAGTGCAGCCTTCACTTCCTGCTGCACCTTCTGCTGACCAGCCCCAGCAGCAGCCTCGCTCACAGCAGAGCACAGCAGCGTCTGTTCCTACCCCAACAGCACCGCTGCTTCCTCCGCAGCCTGCAACTCCAGTAAGTAGAGATTTGGATTTAGGCAGAATCATTAGAGCTATACTGTAGTATTATATTACTTCTGGGCCATTTCCATTCTCTTTTGCTTTATCTCTTACTGTTTTCTCCACAAGTAGAATGTAATCTATTTTTCATTAGGGACTTTTGTATCCTGTTTTGCCTTCCTGTGATAGTACCTATCGTAGCAGGAGCATAAAGATTTTATTTAGCTCTGACTTTGACCATTATGTTTCATGTTGTACCCTGAGGTCTGAAGGTACGTAAAGGGGTACGACAAGGGGACACAATCCTTCTCCTTATTTAGTATATTATTTAGTGCAGCACATAAATTTTACATATATTTAAGGAATCTTTTTCAAACAGTTTGAGCCATAAAACCTAGAGATTGAATTTAAAAATTGCAGATTTGGACGGGCGCGGTGGTGTACACTTTTCATCCTAGCACTTTGGGAGGCTGTGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAAATAACAAAAATTAGCCAGACATGGTAGCGGGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCTTGAACCTGGGAGGTGGAGGTTGCAGTGATCCGAGATTGCGCCACTGCACTCTAGCCTAGGCGACAGAGTGAAACTCCGTCTAAAAAAAAAAAAAAAAATTGCAGATTTATGAGTCCTTGTGGCCCAAACCAAAGTTTAAAAATAAGATGAGAGAATTATAGACCCAGAACAACCTGTAGCTTCCTTGTGAGAGGTTGGTTATGTATATAATAAAAATCCAAATTCTCATCTAATAGTTGAATCCTTATTAATAGAACTTTTTTTAAGGGTTTAGAAGCTTCTACTTTGATACCGATATTAATATATATCGGTATCCAATAGTTCTCAGCCATGTTGATGAACTGAGAAGTTCCATGAGTCACAGCC
|
pathogenic
| 327,473 |
Gene EP300 variant at chromosome position 41152199 on chromosome 22: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
benign
|
GTTCCTACCCCAACAGCACCGCTGCTTCCTCCGCAGCCTGCAACTCCAGTAAGTAGAGATTTGGATTTAGGCAGAATCATTAGAGCTATACTGTAGTATTATATTACTTCTGGGCCATTTCCATTCTCTTTTGCTTTATCTCTTACTGTTTTCTCCACAAGTAGAATGTAATCTATTTTTCATTAGGGACTTTTGTATCCTGTTTTGCCTTCCTGTGATAGTACCTATCGTAGCAGGAGCATAAAGATTTTATTTAGCTCTGACTTTGACCATTATGTTTCATGTTGTACCCTGAGGTCTGAAGGTACGTAAAGGGGTACGACAAGGGGACACAATCCTTCTCCTTATTTAGTATATTATTTAGTGCAGCACATAAATTTTACATATATTTAAGGAATCTTTTTCAAACAGTTTGAGCCATAAAACCTAGAGATTGAATTTAAAAATTGCAGATTTGGACGGGCGCGGTGGTGTACACTTTTCATCCTAGCACTTTGGGAGGCTGTGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAAATAACAAAAATTAGCCAGACATGGTAGCGGGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCTTGAACCTGGGAGGTGGAGGTTGCAGTGATCCGAGATTGCGCCACTGCACTCTAGCCTAGGCGACAGAGTGAAACTCCGTCTAAAAAAAAAAAAAAAAATTGCAGATTTATGAGTCCTTGTGGCCCAAACCAAAGTTTAAAAATAAGATGAGAGAATTATAGACCCAGAACAACCTGTAGCTTCCTTGTGAGAGGTTGGTTATGTATATAATAAAAATCCAAATTCTCATCTAATAGTTGAATCCTTATTAATAGAACTTTTTTTAAGGGTTTAGAAGCTTCTACTTTGATACCGATATTAATATATATCGGTATCCAATAGTTCTCAGCCATGTTGATGAACTGAGAAGTTCCATGAGTCACAGCCGTTTTATAAAGTACTGTACTTGACGGATGGCTGGTTCATCGTGGCCTCTGATAGACAAGGAAGGACAGAATGAGAGAGGAACCAGTGGATCTGCTTGATTTTATTCTTTATAAAATCAAGGATACTTCCAGAAAATACTGACTTCTCATTAAGAGATTTCTTATGACAAGCCTTAGGATAAAGATAGGGAATGCCAGTTTATCTCATTAGAATCTAGCGATTCAAAACAGCCACTCTCTGGGACATCATTATATTTATTGTCTCCTTTTCTGTACCTTTGAAACTTTCTCTGGTGAGAAGGTAAAAACAAGCCAGTCTTTCTTATTTTCTTTCACTCATTTCTGTATAAATGTGAGCTCCTCTGAAGCAGACATCTTTGAAATCCCCACACACTGCCAGATAATGATAGTTATCAATGAAATAGTTGCTGGTTCTTTGATGTACAATCAGCCAACCAGTATTTACAAGTCTTAATTCTCCTGTTCTTAAGCATAATTAAGGGAGGTGAAATGGGCAGAGCAAATGAAAGCACCATGAATAAATATAAGCCAAGAAATAGGTGGCTAATTCTGCTATCCTGTTGCTTACCTTACATTCTGATTGTATCGTTGGCAGACTCTGCGTGTGTCTCACCTACTTCCCTTTTTTTTCTGCCCAGCTTTCCCAGCCAGCTGTAAGCATTGAAGGACAGGTATCAAATCCTCCATCTACTAGTAGCACAGAAGTGAATTCTCAGGCCATTGCTGAGAAGCAGCCTTCCCAGGAAGTGAAGATGGAGGCCAAAATGGAAGTGGATCAACCAGAACCAGCAGATACTCAGCCGGAGGATATTTCAGAGGTGAGAGTAGGGCAATTACTGTTTGATTTGGTTAGGACCTCAGTATAGGAACCCAAGTTTTAAAAAATATTGCAGAAAAATATTTTGATAATTAGATCTCATGGCATAGATTTTGCATGAGAAAGGGTGTTCAGATTACTGATTCCCAACTAGATATCTTTGGAATACTAAAAATTCTTACGTTTTCTTTTAGTCTAAAGTGGAAGACTGTAAAATGGAATCTACCGAAACAGAAGAGAGAAGCACTGAGTTAAAAACTGAAATAAAAGAGGAGGAAGACCAGCCAAGTACTTCAGCTACCCAGTCATCTCCGGCTCCAGGACAGTCAAAGAAAAAGAGTGAGTCTCTGAAGCCATTCGTTCTGGAGGTAGCTGAAGAAACCAAAGACCCAGGGCAGAATTGCGGTCATGCCTCTTGGGCCTCAGAAGTTGCCATTATTGTGATTTCATTAACCTGGAAGCCCTGGGCCTGGTCTCTTCATTGTTACTAATAATTTTTCTTTCTTTTTTTTTTTTTTAATATTCACTTGCAGCAACCAATGAGTTAAGTCATTCCCCTCATTTCTTCAGGGTTCCCTGTGTTAGTACACCCTAAAAATTGTCTCATTTTTCAGGAGAGAGAAATGTTTGTAAATAGCCTTGACTAAAATGCAGGAAAGAATAGCAATAGTAATAGCATTTGTCATTCACCTGCTGTGTGCTAAGTATCCACATTGTCTCATTTAATAATTTCTTTCTTTCTTTTTCTTTTCTTTTTTGTTTGGAATCGGATTCTCACTTTTGTTGTTCAGGCTGGAGTGCAGTGGCGGGATCTGAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTATCTGGGACTGCATGCGCATGCCACCATGCCCGTCTAATTTTTGTATTTTTAGTAGAGACAGGATTTCACCGTGTTGGCCAGGATGGTCTCGATCTCTTGACCTGGTGATCCACCCGCTTCGAGCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACACCCGGCCTCATTTAATAATTTCACAACAGCTCTGAGGTTATTGGCCTGAAGCTTAGCAAAGTTAAGTAACTTTCCACAGGTTACTCAGCTGACCCTACTGCCTGGGCCAGGAAGCAGACCCAGGCAGTCTGAGGCAGAGTGCTCAAATCCAGCCATTCCAACAAGTGTTAATTGACTATTTTAGGACTAGAACTTTTGTGGCTCTAGTGATCTGCAAAAGGCACCAGGTAGGACATACCTGAGGAGTGAGTCTGCTGGCTCTTACAGATGATATATATTGAAAAGTGTTCCATTAATACAATGTGTTGTAAAATGTTGGGATTAAAAAATTATTTTCATTTTAAAAATAAGACTTGTATATATTGAGGTGTTTTAATATGGGCTGTAACAAACCCAGTCTTACTATTGGCAATCTCTCTTTAAAATGTGTGTTCCCTCATGCCTGTAATCCCACCGCTTTGGGAGGCCGAGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACTCTGTCTCTACTAAAAGTACAAAAGTTAGCCGGGTGTGGTGGCTCTCACCCGTAGTCCCATCTACTTGGGAGGCTGAGGCAGAAGAATCACTTGAACCCGGGAGATGGAAGGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGAGTGACAGAGAGTAATTGTCTCAAACAAATAAATAAAATAAAATGTCTAATTTCACAAGTTTATTCAAATAGTCCTTATTTTTAGCACAGCTAAATATGAGTGACAAGCATCTTCGTAGTCTGGTTTCCCCCCACTCCATGGCAACCCCCCAGAGGTGAAAATTATCTGAAGTAACAAATATACTCTACCGATGATGAAATTTTTTTTGCCAATTAAGAAAAAATAAGGCCCTTGCTGAAATTGAAAGCTTTTTAAATCACTGGCTTCTCAAAGAACTGTTTGATTCCATTTGGGACACACCAACAAATTTTTCCGGACTTTTTGGGAAATATCATTGAGAACACATTTGAACTTAATTTGATCAACTAAGTCTATTATTTTAGCAATACCATTTTTGTTCTCTCTTCTTTTAAACTTAAACCTAACATTTGTCATTAAAATAGTACATGTCTCTTTTTCTTTGGCTCTAAAATACCAAGCATTTGAACGAAGGAGTCTTCTCTTCTGTGCCCCTGA
|
GTTCCTACCCCAACAGCACCGCTGCTTCCTCCGCAGCCTGCAACTCCAGTAAGTAGAGATTTGGATTTAGGCAGAATCATTAGAGCTATACTGTAGTATTATATTACTTCTGGGCCATTTCCATTCTCTTTTGCTTTATCTCTTACTGTTTTCTCCACAAGTAGAATGTAATCTATTTTTCATTAGGGACTTTTGTATCCTGTTTTGCCTTCCTGTGATAGTACCTATCGTAGCAGGAGCATAAAGATTTTATTTAGCTCTGACTTTGACCATTATGTTTCATGTTGTACCCTGAGGTCTGAAGGTACGTAAAGGGGTACGACAAGGGGACACAATCCTTCTCCTTATTTAGTATATTATTTAGTGCAGCACATAAATTTTACATATATTTAAGGAATCTTTTTCAAACAGTTTGAGCCATAAAACCTAGAGATTGAATTTAAAAATTGCAGATTTGGACGGGCGCGGTGGTGTACACTTTTCATCCTAGCACTTTGGGAGGCTGTGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACAAAAAAATAACAAAAATTAGCCAGACATGGTAGCGGGTGCCTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCTTGAACCTGGGAGGTGGAGGTTGCAGTGATCCGAGATTGCGCCACTGCACTCTAGCCTAGGCGACAGAGTGAAACTCCGTCTAAAAAAAAAAAAAAAAATTGCAGATTTATGAGTCCTTGTGGCCCAAACCAAAGTTTAAAAATAAGATGAGAGAATTATAGACCCAGAACAACCTGTAGCTTCCTTGTGAGAGGTTGGTTATGTATATAATAAAAATCCAAATTCTCATCTAATAGTTGAATCCTTATTAATAGAACTTTTTTTAAGGGTTTAGAAGCTTCTACTTTGATACCGATATTAATATATATCGGTATCCAATAGTTCTCAGCCATGTTGATGAACTGAGAAGTTCCATGAGTCACAGCCGTTTTATAAAGTACTGTACTTGACGGATGGCTGGTTCATCGTGGCCTCTGATAGACAAGGAAGGACAGAATGAGAGAGGAACCAGTGGATCTGCTTGATTTTATTCTTTATAAAATCAAGGATACTTCCAGAAAATACTGACTTCTCATTAAGAGATTTCTTATGACAAGCCTTAGGATAAAGATAGGGAATGCCAGTTTATCTCATTAGAATCTAGCGATTCAAAACAGCCACTCTCTGGGACATCATTATATTTATTGTCTCCTTTTCTGTACCTTTGAAACTTTCTCTGGTGAGAAGGTAAAAACAAGCCAGTCTTTCTTATTTTCTTTCACTCATTTCTGTATAAATGTGAGCTCCTCTGAAGCAGACATCTTTGAAATCCCCACACACTGCCAGATAATGATAGTTATCAATGAAATAGTTGCTGGTTCTTTGATGTACAATCAGCCAACCAGTATTTACAAGTCTTAATTCTCCTGTTCTTAAGCATAATTAAGGGAGGTGAAATGGGCAGAGCAAATGAAAGCACCATGAATAAATATAAGCCAAGAAATAGGTGGCTAATTCTGCTATCCTGTTGCTTACCTTACATTCTGATTGTATCGTTGGCAGACTCTGCGTGTGTCTCACCTACTTCCCTTTTTTTTCTGCCCAGCTTTCCCAGCCAGCTGTAAGCATTGAAGGACAGGTATCAAATCCTCCATCTACTAGTAGCACAGAAGTGAATTCTCAGGCCATTGCTGAGAAGCAGCCTTCCCAGGAAGTGAAGATGGAGGCCAAAATGGAAGTGGATCAACCAGAACCAGCAGATACTCAGCCGGAGGATATTTCAGAGGTGAGAGTAGGGCAATTACTGTTTGATTTGGTTAGGACCTCAGTATAGGAACCCAAGTTTTAAAAAATATTGCAGAAAAATATTTTGATAATTAGATCTCATGGCATAGATTTTGCATGAGAAAGGGTGTTCAGATTACTGATTCCCAACTAGATATCTTTGGAATACTAAAAATTCTTACGTTTTCTTTAGTCTAAAGTGGAAGACTGTAAAATGGAATCTACCGAAACAGAAGAGAGAAGCACTGAGTTAAAAACTGAAATAAAAGAGGAGGAAGACCAGCCAAGTACTTCAGCTACCCAGTCATCTCCGGCTCCAGGACAGTCAAAGAAAAAGAGTGAGTCTCTGAAGCCATTCGTTCTGGAGGTAGCTGAAGAAACCAAAGACCCAGGGCAGAATTGCGGTCATGCCTCTTGGGCCTCAGAAGTTGCCATTATTGTGATTTCATTAACCTGGAAGCCCTGGGCCTGGTCTCTTCATTGTTACTAATAATTTTTCTTTCTTTTTTTTTTTTTTAATATTCACTTGCAGCAACCAATGAGTTAAGTCATTCCCCTCATTTCTTCAGGGTTCCCTGTGTTAGTACACCCTAAAAATTGTCTCATTTTTCAGGAGAGAGAAATGTTTGTAAATAGCCTTGACTAAAATGCAGGAAAGAATAGCAATAGTAATAGCATTTGTCATTCACCTGCTGTGTGCTAAGTATCCACATTGTCTCATTTAATAATTTCTTTCTTTCTTTTTCTTTTCTTTTTTGTTTGGAATCGGATTCTCACTTTTGTTGTTCAGGCTGGAGTGCAGTGGCGGGATCTGAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTATCTGGGACTGCATGCGCATGCCACCATGCCCGTCTAATTTTTGTATTTTTAGTAGAGACAGGATTTCACCGTGTTGGCCAGGATGGTCTCGATCTCTTGACCTGGTGATCCACCCGCTTCGAGCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACACCCGGCCTCATTTAATAATTTCACAACAGCTCTGAGGTTATTGGCCTGAAGCTTAGCAAAGTTAAGTAACTTTCCACAGGTTACTCAGCTGACCCTACTGCCTGGGCCAGGAAGCAGACCCAGGCAGTCTGAGGCAGAGTGCTCAAATCCAGCCATTCCAACAAGTGTTAATTGACTATTTTAGGACTAGAACTTTTGTGGCTCTAGTGATCTGCAAAAGGCACCAGGTAGGACATACCTGAGGAGTGAGTCTGCTGGCTCTTACAGATGATATATATTGAAAAGTGTTCCATTAATACAATGTGTTGTAAAATGTTGGGATTAAAAAATTATTTTCATTTTAAAAATAAGACTTGTATATATTGAGGTGTTTTAATATGGGCTGTAACAAACCCAGTCTTACTATTGGCAATCTCTCTTTAAAATGTGTGTTCCCTCATGCCTGTAATCCCACCGCTTTGGGAGGCCGAGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACTCTGTCTCTACTAAAAGTACAAAAGTTAGCCGGGTGTGGTGGCTCTCACCCGTAGTCCCATCTACTTGGGAGGCTGAGGCAGAAGAATCACTTGAACCCGGGAGATGGAAGGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGAGTGACAGAGAGTAATTGTCTCAAACAAATAAATAAAATAAAATGTCTAATTTCACAAGTTTATTCAAATAGTCCTTATTTTTAGCACAGCTAAATATGAGTGACAAGCATCTTCGTAGTCTGGTTTCCCCCCACTCCATGGCAACCCCCCAGAGGTGAAAATTATCTGAAGTAACAAATATACTCTACCGATGATGAAATTTTTTTTGCCAATTAAGAAAAAATAAGGCCCTTGCTGAAATTGAAAGCTTTTTAAATCACTGGCTTCTCAAAGAACTGTTTGATTCCATTTGGGACACACCAACAAATTTTTCCGGACTTTTTGGGAAATATCATTGAGAACACATTTGAACTTAATTTGATCAACTAAGTCTATTATTTTAGCAATACCATTTTTGTTCTCTCTTCTTTTAAACTTAAACCTAACATTTGTCATTAAAATAGTACATGTCTCTTTTTCTTTGGCTCTAAAATACCAAGCATTTGAACGAAGGAGTCTTCTCTTCTGTGCCCCTGAN
|
benign
| 327,501 |
Evaluate the clinical significance of the mutation at chromosome 22, position 41154980 in gene EP300 (E1A binding protein p300): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
benign
|
ATTTTTAGTAGAGACAGGATTTCACCGTGTTGGCCAGGATGGTCTCGATCTCTTGACCTGGTGATCCACCCGCTTCGAGCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACACCCGGCCTCATTTAATAATTTCACAACAGCTCTGAGGTTATTGGCCTGAAGCTTAGCAAAGTTAAGTAACTTTCCACAGGTTACTCAGCTGACCCTACTGCCTGGGCCAGGAAGCAGACCCAGGCAGTCTGAGGCAGAGTGCTCAAATCCAGCCATTCCAACAAGTGTTAATTGACTATTTTAGGACTAGAACTTTTGTGGCTCTAGTGATCTGCAAAAGGCACCAGGTAGGACATACCTGAGGAGTGAGTCTGCTGGCTCTTACAGATGATATATATTGAAAAGTGTTCCATTAATACAATGTGTTGTAAAATGTTGGGATTAAAAAATTATTTTCATTTTAAAAATAAGACTTGTATATATTGAGGTGTTTTAATATGGGCTGTAACAAACCCAGTCTTACTATTGGCAATCTCTCTTTAAAATGTGTGTTCCCTCATGCCTGTAATCCCACCGCTTTGGGAGGCCGAGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACTCTGTCTCTACTAAAAGTACAAAAGTTAGCCGGGTGTGGTGGCTCTCACCCGTAGTCCCATCTACTTGGGAGGCTGAGGCAGAAGAATCACTTGAACCCGGGAGATGGAAGGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGAGTGACAGAGAGTAATTGTCTCAAACAAATAAATAAAATAAAATGTCTAATTTCACAAGTTTATTCAAATAGTCCTTATTTTTAGCACAGCTAAATATGAGTGACAAGCATCTTCGTAGTCTGGTTTCCCCCCACTCCATGGCAACCCCCCAGAGGTGAAAATTATCTGAAGTAACAAATATACTCTACCGATGATGAAATTTTTTTTGCCAATTAAGAAAAAATAAGGCCCTTGCTGAAATTGAAAGCTTTTTAAATCACTGGCTTCTCAAAGAACTGTTTGATTCCATTTGGGACACACCAACAAATTTTTCCGGACTTTTTGGGAAATATCATTGAGAACACATTTGAACTTAATTTGATCAACTAAGTCTATTATTTTAGCAATACCATTTTTGTTCTCTCTTCTTTTAAACTTAAACCTAACATTTGTCATTAAAATAGTACATGTCTCTTTTTCTTTGGCTCTAAAATACCAAGCATTTGAACGAAGGAGTCTTCTCTTCTGTGCCCCTGACTCCTTGTAGTATAAGACAATACCTGATCTAGTCTAGTTTCTGACTTGTTAAATACTGATGTCATGAAGAAAGACTTTTCTGTTCTTGCTTGACTGCATCTCCCTCTTAACACGAGTATCTTGTGCACTCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGCCTCATTCTGTTGCCTAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACATCTGCCTCCCGAGTTCAAGCAGTTCTCTTGCCTCAAGCCTCCTGAGTAGCTGAGACTAGCATGCCACCATGTCCGACTAATTTTTTATATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGAAACTTCTGACCTCAAAGTGATCTGCCCACCTCAGCCTCCACCGTGCCTGGTCCCATGGACTCTTATTTGGCAAAGTCTCTTCATAAATTTTTAGAAGCCTTTGGATTCTGCTTCTAATTGACCGAGTCTGTCTTCACTGACTTTGTGACTGAAAAGTTAAGCTGAGGGTGAAGAGTGTTTTAAGGTGATAAGACACAATGTTTTTTAGGAGCTGTCTGAAACAAAGCGGGGCTTAGAATCTAGAATCAGTGATTGAGCCTGTAGTGATATTTCCATGGGGACAGAGTGGTTAATTTTGTTATTGATTCTTGAGATGCTTTTAGAGCTTCAGGCTGAATGATTTTTTAAAGTTCTTCTGCTTAATTGGTAACTAATTTCAAATGCACTTTTTTTTTTTAAGTTTTCAAACCAGAAGAACTACGACAGGCACTGATGCCAACTTTGGAGGCACTTTACCGTCAGGATCCAGAATCCCTTCCCTTTCGTCAACCTGTGGACCCTCAGCTTTTAGGAATCCCTGTAAGTATTTGGTGGTACTTTTGATTTTATTTTTTAATTTGATAACAGCTTTATTGAGAGATAATTCACATTCCAAACAGTATAGCCACTCATTTCAAATTTGTAATTCAGTGATTTTTTTTTTTTCCCCCTGAGACAGGGTCTTATTCTGGTTGCCTAGGCTGGAGTGCAGTGGCACGATCGTGGCTCACTACTGTCTCCACCTCCCGGGCTCAGGTGATTCTCCCACCTCAGCATCCTGAGTAGCTGGGATAACTACATTCATGTGCCACCTCACCTGGCTAGTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCGCCATGTTGCCCAGGCTGGTCTTGAACGCCTGGACTCAAGCAATAGGCCCATCTCAGCCTCCCAGAGTGCTGGAATTACAGGTGTGAGCCACTGGGCCTGGCCTAATTCAGGGAGTTTTAGTATATTCACAGAGTTGTGCATGACACTTTCATTTTCATCATCTGAAAAAAATCCTTTACCATTAACAGTCACTCACTATTTTCTCCCATAGCACCCCAATCCTAGACATCACCAGACTGCATTCTGTCTCTGGATTTGTCTGTTCTACATGTTTCATTAAATTGGAACATACAGTATGTGATTCTTTGTGCCAGGACGTTCCTTAGCATAATGTTTTCAAGGTTCATCCATGTTGTAGCATGAATCAGTAGCACATACCTATTTATAGCCCAATAATATTCCATTATTTTTCTTTACCTGTTGATGAGTTGATAGACATTTAGGTTGTTTACACGTTTTGACTATTAAGATAGGACTGTAGTGAACATTGTGTGGATTTAAGTTTTTATTTCTCCTTGGTATTTACCTAGGAGTGGAATTCCTGGGTTATATAGTTTGTTTACTTTTTTGTTGTTGTTATTTGTTTTTTGTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCAATCTCAGTTCACCTCAACCTCCCCCTCCCGGGTTCAAGCAGTTCTCCTACCTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTGTATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGATGATCCACCCACCTCGGCCTCCCAGAATGCCCAGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTCGTTGTTTCAAGAGCAATAGGTCATAGCAGAAAAAAGGACCGTGGTTAGCTTTGTTTTTAAAGTTGCCTCCATATACTAGGCTGCTGGCAGATTTCATTTGGTGGTTTTAAACTGTTACTTGGCCGGGCACGGTGGCTAACGCCTGTAATCCCAACACTTTTGGAGGCCAAGGCAGGCAGATCACTTGAGTTCAGGAGTTGGAGACCAGCCTCACCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAAGTAACTGGGCGTGGTGGTGCACGCCTGTAATCCTGGCTACTTGGGAGGCTGAGGCAGGTGAATAGTTTGAACGACCCTGGGAGGCAGAGGTTGCACTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACATGTTGACAGAGACTCCATCTCAAAGGTCAAGTGCTTCCAGGGGCAAAAGCCTTTTAGGACTTTTCCTCTCTTGTATCTTGCTGTGATTTCAGATGGAACATTTTAAGTTCTGTGGGCTTAGTTTCCTCATTGTACACCCCTTCTAGTACTAAAATTTTAAATGTCTTTGACTTTACTGATCTCACATGTACTTTCATAAAGAACCTGAAGTTGCTTCAGTAGAATATCAGCCTGATGTCTAGAAAGTCCATAGTAGTTCTGTTTCTCTGCCCTTTGAGTAGTTTAATATCTCTGTAAACTAATATTTAAAGAAGTGATGG
|
ATTTTTAGTAGAGACAGGATTTCACCGTGTTGGCCAGGATGGTCTCGATCTCTTGACCTGGTGATCCACCCGCTTCGAGCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACACCCGGCCTCATTTAATAATTTCACAACAGCTCTGAGGTTATTGGCCTGAAGCTTAGCAAAGTTAAGTAACTTTCCACAGGTTACTCAGCTGACCCTACTGCCTGGGCCAGGAAGCAGACCCAGGCAGTCTGAGGCAGAGTGCTCAAATCCAGCCATTCCAACAAGTGTTAATTGACTATTTTAGGACTAGAACTTTTGTGGCTCTAGTGATCTGCAAAAGGCACCAGGTAGGACATACCTGAGGAGTGAGTCTGCTGGCTCTTACAGATGATATATATTGAAAAGTGTTCCATTAATACAATGTGTTGTAAAATGTTGGGATTAAAAAATTATTTTCATTTTAAAAATAAGACTTGTATATATTGAGGTGTTTTAATATGGGCTGTAACAAACCCAGTCTTACTATTGGCAATCTCTCTTTAAAATGTGTGTTCCCTCATGCCTGTAATCCCACCGCTTTGGGAGGCCGAGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACTCTGTCTCTACTAAAAGTACAAAAGTTAGCCGGGTGTGGTGGCTCTCACCCGTAGTCCCATCTACTTGGGAGGCTGAGGCAGAAGAATCACTTGAACCCGGGAGATGGAAGGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGAGTGACAGAGAGTAATTGTCTCAAACAAATAAATAAAATAAAATGTCTAATTTCACAAGTTTATTCAAATAGTCCTTATTTTTAGCACAGCTAAATATGAGTGACAAGCATCTTCGTAGTCTGGTTTCCCCCCACTCCATGGCAACCCCCCAGAGGTGAAAATTATCTGAAGTAACAAATATACTCTACCGATGATGAAATTTTTTTTGCCAATTAAGAAAAAATAAGGCCCTTGCTGAAATTGAAAGCTTTTTAAATCACTGGCTTCTCAAAGAACTGTTTGATTCCATTTGGGACACACCAACAAATTTTTCCGGACTTTTTGGGAAATATCATTGAGAACACATTTGAACTTAATTTGATCAACTAAGTCTATTATTTTAGCAATACCATTTTTGTTCTCTCTTCTTTTAAACTTAAACCTAACATTTGTCATTAAAATAGTACATGTCTCTTTTTCTTTGGCTCTAAAATACCAAGCATTTGAACGAAGGAGTCTTCTCTTCTGTGCCCCTGACTCCTTGTAGTATAAGACAATACCTGATCTAGTCTAGTTTCTGACTTGTTAAATACTGATGTCATGAAGAAAGACTTTTCTGTTCTTGCTTGACTGCATCTCCCTCTTAACACGAGTATCTTGTGCACTCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGCCTCATTCTGTTGCCTAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACATCTGCCTCCCGAGTTCAAGCAGTTCTCTTGCCTCAAGCCTCCTGAGTAGCTGAGACTAGCATGCCACCATGTCCGACTAATTTTTTATATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGAAACTTCTGACCTCAAAGTGATCTGCCCACCTCAGCCTCCACCGTGCCTGGTCCCATGGACTCTTATTTGGCAAAGTCTCTTCATAAATTTTTAGAAGCCTTTGGATTCTGCTTCTAATTGACCGAGTCTGTCTTCACTGACTTTGTGACTGAAAAGTTAAGCTGAGGGTGAAGAGTGTTTTAAGGTGATAAGACACAATGTTTTTTAGGAGCTGTCTGAAACAAAGCGGGGCTTAGAATCTAGAATCAGTGATTGAGCCTGTAGTGATATTTCCATGGGGACAGAGTGGTTAATTTTGTTATTGATTCTTGAGATGCTTTTAGAGCTTCAGGCTGAATGATTTTTTAAAGTTCTTCTGCTTAATTGGTAACTAATTTCAAATGCACTTTTTTTTTTTTAAGTTTTCAAACCAGAAGAACTACGACAGGCACTGATGCCAACTTTGGAGGCACTTTACCGTCAGGATCCAGAATCCCTTCCCTTTCGTCAACCTGTGGACCCTCAGCTTTTAGGAATCCCTGTAAGTATTTGGTGGTACTTTTGATTTTATTTTTTAATTTGATAACAGCTTTATTGAGAGATAATTCACATTCCAAACAGTATAGCCACTCATTTCAAATTTGTAATTCAGTGATTTTTTTTTTTTCCCCCTGAGACAGGGTCTTATTCTGGTTGCCTAGGCTGGAGTGCAGTGGCACGATCGTGGCTCACTACTGTCTCCACCTCCCGGGCTCAGGTGATTCTCCCACCTCAGCATCCTGAGTAGCTGGGATAACTACATTCATGTGCCACCTCACCTGGCTAGTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCGCCATGTTGCCCAGGCTGGTCTTGAACGCCTGGACTCAAGCAATAGGCCCATCTCAGCCTCCCAGAGTGCTGGAATTACAGGTGTGAGCCACTGGGCCTGGCCTAATTCAGGGAGTTTTAGTATATTCACAGAGTTGTGCATGACACTTTCATTTTCATCATCTGAAAAAAATCCTTTACCATTAACAGTCACTCACTATTTTCTCCCATAGCACCCCAATCCTAGACATCACCAGACTGCATTCTGTCTCTGGATTTGTCTGTTCTACATGTTTCATTAAATTGGAACATACAGTATGTGATTCTTTGTGCCAGGACGTTCCTTAGCATAATGTTTTCAAGGTTCATCCATGTTGTAGCATGAATCAGTAGCACATACCTATTTATAGCCCAATAATATTCCATTATTTTTCTTTACCTGTTGATGAGTTGATAGACATTTAGGTTGTTTACACGTTTTGACTATTAAGATAGGACTGTAGTGAACATTGTGTGGATTTAAGTTTTTATTTCTCCTTGGTATTTACCTAGGAGTGGAATTCCTGGGTTATATAGTTTGTTTACTTTTTTGTTGTTGTTATTTGTTTTTTGTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCAATCTCAGTTCACCTCAACCTCCCCCTCCCGGGTTCAAGCAGTTCTCCTACCTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTGTATGTTGGTCAGGCTGGTCTCAAACTCCCAACCTCAGATGATCCACCCACCTCGGCCTCCCAGAATGCCCAGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTCGTTGTTTCAAGAGCAATAGGTCATAGCAGAAAAAAGGACCGTGGTTAGCTTTGTTTTTAAAGTTGCCTCCATATACTAGGCTGCTGGCAGATTTCATTTGGTGGTTTTAAACTGTTACTTGGCCGGGCACGGTGGCTAACGCCTGTAATCCCAACACTTTTGGAGGCCAAGGCAGGCAGATCACTTGAGTTCAGGAGTTGGAGACCAGCCTCACCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAAGTAACTGGGCGTGGTGGTGCACGCCTGTAATCCTGGCTACTTGGGAGGCTGAGGCAGGTGAATAGTTTGAACGACCCTGGGAGGCAGAGGTTGCACTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACATGTTGACAGAGACTCCATCTCAAAGGTCAAGTGCTTCCAGGGGCAAAAGCCTTTTAGGACTTTTCCTCTCTTGTATCTTGCTGTGATTTCAGATGGAACATTTTAAGTTCTGTGGGCTTAGTTTCCTCATTGTACACCCCTTCTAGTACTAAAATTTTAAATGTCTTTGACTTTACTGATCTCACATGTACTTTCATAAAGAACCTGAAGTTGCTTCAGTAGAATATCAGCCTGATGTCTAGAAAGTCCATAGTAGTTCTGTTTCTCTGCCCTTTGAGTAGTTTAATATCTCTGTAAACTAATATTTAAAGAAGTGATG
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benign
| 327,506 |
Clinical significance of chromosome 22, position 41162732, gene EP300 (E1A binding protein p300): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency']
|
GAGCGTTTCTTTGGGGGATGACCCTTCCCAGCCTCAAACGTAAGTAACTGCATTATTTTGAAAAGTGCTAATTAGTTTGTTGTCCAGTGATTATGCACAGCTTATTTCTAAATGAACTTAAGCTATGCTGTTGAATATGGTAGCCATTAGCCACATGTTGCTATTTAAATGCATATTAATTTAAATAAAAATTGTTTATCACATGGAATACTCACATTTCAACTGTTCAGTAGCTATCTGTGTCTGGTGGCTACCATATTGGTCAACACAGAGAACATATCCATCATAGTAGAAAGCTCTTTGAGACATCAATGAATTAGGGAATATGTCAGCAATGGGCAATCATCTTAGTTCTAGTAAAAGTATTCTGTATAGGAAGCAATCAGCTTCTCTTCGAAAAATTGGAGGTTAGTACAAGAAAACATCATTATTAACTGTTCTGAGTTTGAGGGTGATTGAACTGATGACCACCTTACACCCTTCTCTTGTAGGTTAACAGAAGACCCAAGTCACTATTGTAGTGAATAATAGACTTTAACAGCATGCCGGGGTTTAAGAGATTTGCTTGTGCTTTGCAGTCTCACAAGCTCTTACCATTTGGTAAATGGCCAAGAAAAAAATTTCAAACATATAGTCTAATAGTTTAATCTCTGGCCAGGCGTGGTGGCTCATGCCTGTCATCTCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAGCCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGGGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGAGTCTGTCTCAAAATAAATAAAAGAAAAAAAGAAAAAAGTAACTTAAGATGTAGGCAGTCATTAGAATTCAAACTGGGACTGTCTAAGAAGGAAAAACTGTTCAGTGTAATTTTAATATTATTGAAAGTTCATATTTACTTCTGTTCAGGACGTTGCACAAAAATTTGGAATTCTCTTGTTCCTAGTAAAAATGGGGCTTCTGAGAAAAGCTGGTTAATTTTTCTAAATTGCGTTCTAAAGATAGCAGTGTCTGGGTGCTAGCTAGGAGAGTAGATACTAGGAGCCTTTGATCCTTGAAACATTTTGACATTTGGTTAAGCCAGGAAGGTTAGCTCTAGGGTAAGTTTCCTTGATGCAGGAAGAGACGTAAGCCTTGTCATTGAACTCTCAGGTGGCTTACCAAATAGTCTAAACCTTAAGGCAGTACATCTCTAACTTTGAAAAGAGTAGGAACAAGACCCTTCCCAATTCTGCAGGCCTGTAGTGGATCCAAGTGTCTATTTCTAACTCCCAGATTGTTCTGGTGCTGCTCATCTTCAGATTGCACTTGGAGTAGCAAGACAGGCCATTCAGGAAAATGCTATTAACAGAGATGAATGAATCTCTAGGCCATAACTAGTATAAGAAACGGTTTTCAATGTGGACATGTCCTCATTTTTGTAAGGAAGTATAACAGAAGTCCAAGTTGGTCCCCCTAATGTTGATTCTAGTTGGAGAATGTGGATCCTAGTTGGAGAATGGTAAGACTGTTAGCTTTTGTATGTAGTGAGGCTATGAGCAGTGTGTTATGCTGGGTTTCAGGATGGGAAGCCATGATACCTAACACCAAGAATAGTAACAGACAAGATTTTAAAAGGAAAAGAAGAAACAGTATTTCTAGTTCTTCCTGGGTTCTCCATTTCTGATAAGAGGAAATTTATTTACTATGAAGTCCTATAGAATATTCCTTTACATAAACATGCATTTTGTGTGAGCCAAGAATACACCTATTTAAATGTGTATTCTTAAAAAACCTGAATCTCTATATAGGGTGAAGTTTGTTCCTTTGGTTAGAACAGCAGTCAGATTGCTCATCTCTATCACTTTTTCTCATTGTGTCCCTTTTCTCTCCTTAGTACAATAAATAAAGAACAATTTTCCAAGAGAAAAAATGACACACTGGATCCTGAACTGTAAGTACGATCCCCTTGAATAGTCAGTACGCTTTGGCTTTTCTTTTTCCCTTTCATTCTCTTGAAGTTTGCATGACCAATCAGATGATCCTATATTCTTGGGCTAAATCTACATAACATACATCTAATGGATAGTAAAACCATGGAAAACACTGAAGTACTAAGGAACATTATTTCTTAATGTTAATTTTAATGTTCTTAATGTTGAATGTGAAACATTAAAGATCTAAACTTCTAGTTTGCAGTGAGGCCTTTTAGATCATGGAGGACTGACATGTATGTCTTCTAGATGTTCCTAAAATGGATGGGATGGTATTTGGATTTATTTGGAATTTTCAGCACCAGGAATCTGTCTTAAAAATTAGCCAGGTTTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTTTGGCCGGGCACAGTGGCCCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGATCACCCAAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGCAAAATCCCGTCTCTACTACAAATATATAAATTAGCTGTGCGTGGTGGTGCGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCGGGAGGCAGGGGTTGAAGTGAGCTGATATGACGCCACTGCACTCCAGCCTGGGCGACACAGAGAGACTCCATCTCAGAAAACAAAACAAAAAACAGCCAGGCATGATAGTATGTGCCTATCCTAGCCAGGTAGCTGAGAGGCCAAGGCAGGAAAATGGCTTGAGCCCAGGAGTTTAAGGTTGTAGTGAGCTGTGATCATGCCACCCACTCCAGCCTGTACAACAGAGACCCTATCTCTAAAAAAATAGAAACTTTATTAAAACTATTTTCAGTTCTTTGGTCATGACCTTGGCTGTCTTTGTCAGAAGTCATGGGAAATATTGCAAGTTTTCATTTGGTTAAGGTTTGGGGTTAATTTTGGAATTGGCTCTGCTCTTCCAGGTTTGTTGAATGTACAGAGTGCGGAAGAAAGATGCATCAGATCTGTGTCCTTCACCATGAGATCATCTGGCCTGCTGGGTAAGTCTTAACGTTGTTACTTTCTCTGGAATTTTTCTTTATCGTGAATATTAACAAGTTTTTTATTCTATGCAATTGACTGTATTATATCTTCAAAGTTACTATCTTTAAATTGTTTTCTTTGGGTTTGGCCACGATAATTATAGTTCGCTTTTTAAAAATTAAGTAACCTAGTATCCAAAAATAGATTTTTATCTTATTTTTATGCATTCTTCTTAGCCATATAAATATATTTTATTCTGCTGGATTGTTTATTAAAATTATATTGTAGTTATTACACATCAAAAGTAAATATTTATGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGACAGGGGTTCCAGACCAGCCTGACCAACATGGCAAAACCTCGTGTCTACTGAAAATACAAAAATTAGCCTGGCGTGGTGGTGCACGCCTGTAATCCAGCTACTCAGGAGGGAGGCTGAGGGAAGAGAATCACTTGAACCTGTGAGGGGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGAAAAAAGTAAATGCTTTTGTTCCGGCATCTAGAAACTAGGATCATGCTGCTGGCATGAATA
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GAGCGTTTCTTTGGGGGATGACCCTTCCCAGCCTCAAACGTAAGTAACTGCATTATTTTGAAAAGTGCTAATTAGTTTGTTGTCCAGTGATTATGCACAGCTTATTTCTAAATGAACTTAAGCTATGCTGTTGAATATGGTAGCCATTAGCCACATGTTGCTATTTAAATGCATATTAATTTAAATAAAAATTGTTTATCACATGGAATACTCACATTTCAACTGTTCAGTAGCTATCTGTGTCTGGTGGCTACCATATTGGTCAACACAGAGAACATATCCATCATAGTAGAAAGCTCTTTGAGACATCAATGAATTAGGGAATATGTCAGCAATGGGCAATCATCTTAGTTCTAGTAAAAGTATTCTGTATAGGAAGCAATCAGCTTCTCTTCGAAAAATTGGAGGTTAGTACAAGAAAACATCATTATTAACTGTTCTGAGTTTGAGGGTGATTGAACTGATGACCACCTTACACCCTTCTCTTGTAGGTTAACAGAAGACCCAAGTCACTATTGTAGTGAATAATAGACTTTAACAGCATGCCGGGGTTTAAGAGATTTGCTTGTGCTTTGCAGTCTCACAAGCTCTTACCATTTGGTAAATGGCCAAGAAAAAAATTTCAAACATATAGTCTAATAGTTTAATCTCTGGCCAGGCGTGGTGGCTCATGCCTGTCATCTCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAGCCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGGGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGAGTCTGTCTCAAAATAAATAAAAGAAAAAAAGAAAAAAGTAACTTAAGATGTAGGCAGTCATTAGAATTCAAACTGGGACTGTCTAAGAAGGAAAAACTGTTCAGTGTAATTTTAATATTATTGAAAGTTCATATTTACTTCTGTTCAGGACGTTGCACAAAAATTTGGAATTCTCTTGTTCCTAGTAAAAATGGGGCTTCTGAGAAAAGCTGGTTAATTTTTCTAAATTGCGTTCTAAAGATAGCAGTGTCTGGGTGCTAGCTAGGAGAGTAGATACTAGGAGCCTTTGATCCTTGAAACATTTTGACATTTGGTTAAGCCAGGAAGGTTAGCTCTAGGGTAAGTTTCCTTGATGCAGGAAGAGACGTAAGCCTTGTCATTGAACTCTCAGGTGGCTTACCAAATAGTCTAAACCTTAAGGCAGTACATCTCTAACTTTGAAAAGAGTAGGAACAAGACCCTTCCCAATTCTGCAGGCCTGTAGTGGATCCAAGTGTCTATTTCTAACTCCCAGATTGTTCTGGTGCTGCTCATCTTCAGATTGCACTTGGAGTAGCAAGACAGGCCATTCAGGAAAATGCTATTAACAGAGATGAATGAATCTCTAGGCCATAACTAGTATAAGAAACGGTTTTCAATGTGGACATGTCCTCATTTTTGTAAGGAAGTATAACAGAAGTCCAAGTTGGTCCCCCTAATGTTGATTCTAGTTGGAGAATGTGGATCCTAGTTGGAGAATGGTAAGACTGTTAGCTTTTGTATGTAGTGAGGCTATGAGCAGTGTGTTATGCTGGGTTTCAGGATGGGAAGCCATGATACCTAACACCAAGAATAGTAACAGACAAGATTTTAAAAGGAAAAGAAGAAACAGTATTTCTAGTTCTTCCTGGGTTCTCCATTTCTGATAAGAGGAAATTTATTTACTATGAAGTCCTATAGAATATTCCTTTACATAAACATGCATTTTGTGTGAGCCAAGAATACACCTATTTAAATGTGTATTCTTAAAAAACCTGAATCTCTATATAGGGTGAAGTTTGTTCCTTTGGTTAGAACAGCAGTCAGATTGCTCATCTCTATCACTTTTTCTCATTGTGTCCCTTTTCTCTCCTTAGTACAATAAATAACAATTTTCCAAGAGAAAAAATGACACACTGGATCCTGAACTGTAAGTACGATCCCCTTGAATAGTCAGTACGCTTTGGCTTTTCTTTTTCCCTTTCATTCTCTTGAAGTTTGCATGACCAATCAGATGATCCTATATTCTTGGGCTAAATCTACATAACATACATCTAATGGATAGTAAAACCATGGAAAACACTGAAGTACTAAGGAACATTATTTCTTAATGTTAATTTTAATGTTCTTAATGTTGAATGTGAAACATTAAAGATCTAAACTTCTAGTTTGCAGTGAGGCCTTTTAGATCATGGAGGACTGACATGTATGTCTTCTAGATGTTCCTAAAATGGATGGGATGGTATTTGGATTTATTTGGAATTTTCAGCACCAGGAATCTGTCTTAAAAATTAGCCAGGTTTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTTTGGCCGGGCACAGTGGCCCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGATCACCCAAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGCAAAATCCCGTCTCTACTACAAATATATAAATTAGCTGTGCGTGGTGGTGCGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCGGGAGGCAGGGGTTGAAGTGAGCTGATATGACGCCACTGCACTCCAGCCTGGGCGACACAGAGAGACTCCATCTCAGAAAACAAAACAAAAAACAGCCAGGCATGATAGTATGTGCCTATCCTAGCCAGGTAGCTGAGAGGCCAAGGCAGGAAAATGGCTTGAGCCCAGGAGTTTAAGGTTGTAGTGAGCTGTGATCATGCCACCCACTCCAGCCTGTACAACAGAGACCCTATCTCTAAAAAAATAGAAACTTTATTAAAACTATTTTCAGTTCTTTGGTCATGACCTTGGCTGTCTTTGTCAGAAGTCATGGGAAATATTGCAAGTTTTCATTTGGTTAAGGTTTGGGGTTAATTTTGGAATTGGCTCTGCTCTTCCAGGTTTGTTGAATGTACAGAGTGCGGAAGAAAGATGCATCAGATCTGTGTCCTTCACCATGAGATCATCTGGCCTGCTGGGTAAGTCTTAACGTTGTTACTTTCTCTGGAATTTTTCTTTATCGTGAATATTAACAAGTTTTTTATTCTATGCAATTGACTGTATTATATCTTCAAAGTTACTATCTTTAAATTGTTTTCTTTGGGTTTGGCCACGATAATTATAGTTCGCTTTTTAAAAATTAAGTAACCTAGTATCCAAAAATAGATTTTTATCTTATTTTTATGCATTCTTCTTAGCCATATAAATATATTTTATTCTGCTGGATTGTTTATTAAAATTATATTGTAGTTATTACACATCAAAAGTAAATATTTATGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGACAGGGGTTCCAGACCAGCCTGACCAACATGGCAAAACCTCGTGTCTACTGAAAATACAAAAATTAGCCTGGCGTGGTGGTGCACGCCTGTAATCCAGCTACTCAGGAGGGAGGCTGAGGGAAGAGAATCACTTGAACCTGTGAGGGGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGAAAAAAGTAAATGCTTTTGTTCCGGCATCTAGAAACTAGGATCATGCTGCTGGCATGAATANNNN
|
pathogenic
| 327,524 |
Clinically, how would you classify the variant at chromosome 22, position 41162752, gene EP300 (E1A binding protein p300): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations', 'Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency']
|
ACCCTTCCCAGCCTCAAACGTAAGTAACTGCATTATTTTGAAAAGTGCTAATTAGTTTGTTGTCCAGTGATTATGCACAGCTTATTTCTAAATGAACTTAAGCTATGCTGTTGAATATGGTAGCCATTAGCCACATGTTGCTATTTAAATGCATATTAATTTAAATAAAAATTGTTTATCACATGGAATACTCACATTTCAACTGTTCAGTAGCTATCTGTGTCTGGTGGCTACCATATTGGTCAACACAGAGAACATATCCATCATAGTAGAAAGCTCTTTGAGACATCAATGAATTAGGGAATATGTCAGCAATGGGCAATCATCTTAGTTCTAGTAAAAGTATTCTGTATAGGAAGCAATCAGCTTCTCTTCGAAAAATTGGAGGTTAGTACAAGAAAACATCATTATTAACTGTTCTGAGTTTGAGGGTGATTGAACTGATGACCACCTTACACCCTTCTCTTGTAGGTTAACAGAAGACCCAAGTCACTATTGTAGTGAATAATAGACTTTAACAGCATGCCGGGGTTTAAGAGATTTGCTTGTGCTTTGCAGTCTCACAAGCTCTTACCATTTGGTAAATGGCCAAGAAAAAAATTTCAAACATATAGTCTAATAGTTTAATCTCTGGCCAGGCGTGGTGGCTCATGCCTGTCATCTCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAGCCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGGGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGAGTCTGTCTCAAAATAAATAAAAGAAAAAAAGAAAAAAGTAACTTAAGATGTAGGCAGTCATTAGAATTCAAACTGGGACTGTCTAAGAAGGAAAAACTGTTCAGTGTAATTTTAATATTATTGAAAGTTCATATTTACTTCTGTTCAGGACGTTGCACAAAAATTTGGAATTCTCTTGTTCCTAGTAAAAATGGGGCTTCTGAGAAAAGCTGGTTAATTTTTCTAAATTGCGTTCTAAAGATAGCAGTGTCTGGGTGCTAGCTAGGAGAGTAGATACTAGGAGCCTTTGATCCTTGAAACATTTTGACATTTGGTTAAGCCAGGAAGGTTAGCTCTAGGGTAAGTTTCCTTGATGCAGGAAGAGACGTAAGCCTTGTCATTGAACTCTCAGGTGGCTTACCAAATAGTCTAAACCTTAAGGCAGTACATCTCTAACTTTGAAAAGAGTAGGAACAAGACCCTTCCCAATTCTGCAGGCCTGTAGTGGATCCAAGTGTCTATTTCTAACTCCCAGATTGTTCTGGTGCTGCTCATCTTCAGATTGCACTTGGAGTAGCAAGACAGGCCATTCAGGAAAATGCTATTAACAGAGATGAATGAATCTCTAGGCCATAACTAGTATAAGAAACGGTTTTCAATGTGGACATGTCCTCATTTTTGTAAGGAAGTATAACAGAAGTCCAAGTTGGTCCCCCTAATGTTGATTCTAGTTGGAGAATGTGGATCCTAGTTGGAGAATGGTAAGACTGTTAGCTTTTGTATGTAGTGAGGCTATGAGCAGTGTGTTATGCTGGGTTTCAGGATGGGAAGCCATGATACCTAACACCAAGAATAGTAACAGACAAGATTTTAAAAGGAAAAGAAGAAACAGTATTTCTAGTTCTTCCTGGGTTCTCCATTTCTGATAAGAGGAAATTTATTTACTATGAAGTCCTATAGAATATTCCTTTACATAAACATGCATTTTGTGTGAGCCAAGAATACACCTATTTAAATGTGTATTCTTAAAAAACCTGAATCTCTATATAGGGTGAAGTTTGTTCCTTTGGTTAGAACAGCAGTCAGATTGCTCATCTCTATCACTTTTTCTCATTGTGTCCCTTTTCTCTCCTTAGTACAATAAATAAAGAACAATTTTCCAAGAGAAAAAATGACACACTGGATCCTGAACTGTAAGTACGATCCCCTTGAATAGTCAGTACGCTTTGGCTTTTCTTTTTCCCTTTCATTCTCTTGAAGTTTGCATGACCAATCAGATGATCCTATATTCTTGGGCTAAATCTACATAACATACATCTAATGGATAGTAAAACCATGGAAAACACTGAAGTACTAAGGAACATTATTTCTTAATGTTAATTTTAATGTTCTTAATGTTGAATGTGAAACATTAAAGATCTAAACTTCTAGTTTGCAGTGAGGCCTTTTAGATCATGGAGGACTGACATGTATGTCTTCTAGATGTTCCTAAAATGGATGGGATGGTATTTGGATTTATTTGGAATTTTCAGCACCAGGAATCTGTCTTAAAAATTAGCCAGGTTTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTTTGGCCGGGCACAGTGGCCCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGATCACCCAAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGCAAAATCCCGTCTCTACTACAAATATATAAATTAGCTGTGCGTGGTGGTGCGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCGGGAGGCAGGGGTTGAAGTGAGCTGATATGACGCCACTGCACTCCAGCCTGGGCGACACAGAGAGACTCCATCTCAGAAAACAAAACAAAAAACAGCCAGGCATGATAGTATGTGCCTATCCTAGCCAGGTAGCTGAGAGGCCAAGGCAGGAAAATGGCTTGAGCCCAGGAGTTTAAGGTTGTAGTGAGCTGTGATCATGCCACCCACTCCAGCCTGTACAACAGAGACCCTATCTCTAAAAAAATAGAAACTTTATTAAAACTATTTTCAGTTCTTTGGTCATGACCTTGGCTGTCTTTGTCAGAAGTCATGGGAAATATTGCAAGTTTTCATTTGGTTAAGGTTTGGGGTTAATTTTGGAATTGGCTCTGCTCTTCCAGGTTTGTTGAATGTACAGAGTGCGGAAGAAAGATGCATCAGATCTGTGTCCTTCACCATGAGATCATCTGGCCTGCTGGGTAAGTCTTAACGTTGTTACTTTCTCTGGAATTTTTCTTTATCGTGAATATTAACAAGTTTTTTATTCTATGCAATTGACTGTATTATATCTTCAAAGTTACTATCTTTAAATTGTTTTCTTTGGGTTTGGCCACGATAATTATAGTTCGCTTTTTAAAAATTAAGTAACCTAGTATCCAAAAATAGATTTTTATCTTATTTTTATGCATTCTTCTTAGCCATATAAATATATTTTATTCTGCTGGATTGTTTATTAAAATTATATTGTAGTTATTACACATCAAAAGTAAATATTTATGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGACAGGGGTTCCAGACCAGCCTGACCAACATGGCAAAACCTCGTGTCTACTGAAAATACAAAAATTAGCCTGGCGTGGTGGTGCACGCCTGTAATCCAGCTACTCAGGAGGGAGGCTGAGGGAAGAGAATCACTTGAACCTGTGAGGGGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGAAAAAAGTAAATGCTTTTGTTCCGGCATCTAGAAACTAGGATCATGCTGCTGGCATGAATAGGTCTGGCCCTGGTAAGGGT
|
ACCCTTCCCAGCCTCAAACGTAAGTAACTGCATTATTTTGAAAAGTGCTAATTAGTTTGTTGTCCAGTGATTATGCACAGCTTATTTCTAAATGAACTTAAGCTATGCTGTTGAATATGGTAGCCATTAGCCACATGTTGCTATTTAAATGCATATTAATTTAAATAAAAATTGTTTATCACATGGAATACTCACATTTCAACTGTTCAGTAGCTATCTGTGTCTGGTGGCTACCATATTGGTCAACACAGAGAACATATCCATCATAGTAGAAAGCTCTTTGAGACATCAATGAATTAGGGAATATGTCAGCAATGGGCAATCATCTTAGTTCTAGTAAAAGTATTCTGTATAGGAAGCAATCAGCTTCTCTTCGAAAAATTGGAGGTTAGTACAAGAAAACATCATTATTAACTGTTCTGAGTTTGAGGGTGATTGAACTGATGACCACCTTACACCCTTCTCTTGTAGGTTAACAGAAGACCCAAGTCACTATTGTAGTGAATAATAGACTTTAACAGCATGCCGGGGTTTAAGAGATTTGCTTGTGCTTTGCAGTCTCACAAGCTCTTACCATTTGGTAAATGGCCAAGAAAAAAATTTCAAACATATAGTCTAATAGTTTAATCTCTGGCCAGGCGTGGTGGCTCATGCCTGTCATCTCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAGCCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGGGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGAGTCTGTCTCAAAATAAATAAAAGAAAAAAAGAAAAAAGTAACTTAAGATGTAGGCAGTCATTAGAATTCAAACTGGGACTGTCTAAGAAGGAAAAACTGTTCAGTGTAATTTTAATATTATTGAAAGTTCATATTTACTTCTGTTCAGGACGTTGCACAAAAATTTGGAATTCTCTTGTTCCTAGTAAAAATGGGGCTTCTGAGAAAAGCTGGTTAATTTTTCTAAATTGCGTTCTAAAGATAGCAGTGTCTGGGTGCTAGCTAGGAGAGTAGATACTAGGAGCCTTTGATCCTTGAAACATTTTGACATTTGGTTAAGCCAGGAAGGTTAGCTCTAGGGTAAGTTTCCTTGATGCAGGAAGAGACGTAAGCCTTGTCATTGAACTCTCAGGTGGCTTACCAAATAGTCTAAACCTTAAGGCAGTACATCTCTAACTTTGAAAAGAGTAGGAACAAGACCCTTCCCAATTCTGCAGGCCTGTAGTGGATCCAAGTGTCTATTTCTAACTCCCAGATTGTTCTGGTGCTGCTCATCTTCAGATTGCACTTGGAGTAGCAAGACAGGCCATTCAGGAAAATGCTATTAACAGAGATGAATGAATCTCTAGGCCATAACTAGTATAAGAAACGGTTTTCAATGTGGACATGTCCTCATTTTTGTAAGGAAGTATAACAGAAGTCCAAGTTGGTCCCCCTAATGTTGATTCTAGTTGGAGAATGTGGATCCTAGTTGGAGAATGGTAAGACTGTTAGCTTTTGTATGTAGTGAGGCTATGAGCAGTGTGTTATGCTGGGTTTCAGGATGGGAAGCCATGATACCTAACACCAAGAATAGTAACAGACAAGATTTTAAAAGGAAAAGAAGAAACAGTATTTCTAGTTCTTCCTGGGTTCTCCATTTCTGATAAGAGGAAATTTATTTACTATGAAGTCCTATAGAATATTCCTTTACATAAACATGCATTTTGTGTGAGCCAAGAATACACCTATTTAAATGTGTATTCTTAAAAAACCTGAATCTCTATATAGGGTGAAGTTTGTTCCTTTGGTTAGAACAGCAGTCAGATTGCTCATCTCTATCACTTTTTCTCATTGTGTCCCTTTTCTCTCCTTAGTACAATAAATAAAGAACAATTTTCCAAGAGAAAAAAATGACACACTGGATCCTGAACTGTAAGTACGATCCCCTTGAATAGTCAGTACGCTTTGGCTTTTCTTTTTCCCTTTCATTCTCTTGAAGTTTGCATGACCAATCAGATGATCCTATATTCTTGGGCTAAATCTACATAACATACATCTAATGGATAGTAAAACCATGGAAAACACTGAAGTACTAAGGAACATTATTTCTTAATGTTAATTTTAATGTTCTTAATGTTGAATGTGAAACATTAAAGATCTAAACTTCTAGTTTGCAGTGAGGCCTTTTAGATCATGGAGGACTGACATGTATGTCTTCTAGATGTTCCTAAAATGGATGGGATGGTATTTGGATTTATTTGGAATTTTCAGCACCAGGAATCTGTCTTAAAAATTAGCCAGGTTTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTTTGGCCGGGCACAGTGGCCCACATCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGATCACCCAAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGCAAAATCCCGTCTCTACTACAAATATATAAATTAGCTGTGCGTGGTGGTGCGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCGGGAGGCAGGGGTTGAAGTGAGCTGATATGACGCCACTGCACTCCAGCCTGGGCGACACAGAGAGACTCCATCTCAGAAAACAAAACAAAAAACAGCCAGGCATGATAGTATGTGCCTATCCTAGCCAGGTAGCTGAGAGGCCAAGGCAGGAAAATGGCTTGAGCCCAGGAGTTTAAGGTTGTAGTGAGCTGTGATCATGCCACCCACTCCAGCCTGTACAACAGAGACCCTATCTCTAAAAAAATAGAAACTTTATTAAAACTATTTTCAGTTCTTTGGTCATGACCTTGGCTGTCTTTGTCAGAAGTCATGGGAAATATTGCAAGTTTTCATTTGGTTAAGGTTTGGGGTTAATTTTGGAATTGGCTCTGCTCTTCCAGGTTTGTTGAATGTACAGAGTGCGGAAGAAAGATGCATCAGATCTGTGTCCTTCACCATGAGATCATCTGGCCTGCTGGGTAAGTCTTAACGTTGTTACTTTCTCTGGAATTTTTCTTTATCGTGAATATTAACAAGTTTTTTATTCTATGCAATTGACTGTATTATATCTTCAAAGTTACTATCTTTAAATTGTTTTCTTTGGGTTTGGCCACGATAATTATAGTTCGCTTTTTAAAAATTAAGTAACCTAGTATCCAAAAATAGATTTTTATCTTATTTTTATGCATTCTTCTTAGCCATATAAATATATTTTATTCTGCTGGATTGTTTATTAAAATTATATTGTAGTTATTACACATCAAAAGTAAATATTTATGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGACAGGGGTTCCAGACCAGCCTGACCAACATGGCAAAACCTCGTGTCTACTGAAAATACAAAAATTAGCCTGGCGTGGTGGTGCACGCCTGTAATCCAGCTACTCAGGAGGGAGGCTGAGGGAAGAGAATCACTTGAACCTGTGAGGGGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGAAAAAAGTAAATGCTTTTGTTCCGGCATCTAGAAACTAGGATCATGCTGCTGGCATGAATAGGTCTGGCCCTGGTAAGGG
|
pathogenic
| 327,525 |
Located at chromosome 22 position 41176231, the variant affecting gene EP300 (E1A binding protein p300)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
benign
|
GCACTTTGGAGGTTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGCGAACCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGCACACACCTGTAATCCTTGGGATGCTGGGGTGGGAGGATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGCACTTACAGCCTGGGTGACAGAACGAGACTCTGTTTCAAAAAATAAAAAGATTTAACCTTTCTGAAAGTGAATTAGTAAATAGAATTGGAGAAAAGTTAAACTTCCACATATGGACTTACAACCCCCTTCTCAAAACTTTTTGAGTTATTTCATCATTTACATTGTTTAGTTGTTCTTGCAGTCATTTGGGAAAATAACTGGGTAAGGTTTTTTTTTTCTCTCTTTAATATCATATAATTGATAACGAAAGCCAGGAGAATTGAAGAGTAATTCCTCTCAGGGTTTGTCCAATGGTAGTAATCTCGATTGTTCAGTCAGACTCCTCATTTTACTATCTCGGTTCTCAGACATATAATCAAGTTCTTATAGGAAGTGGTAATTAAGTTGAGAGGGAAATGAAGGCTTGATTTCAGGTTGTAATTCCGTACCTAAAAATTGGTTAAACAGTCTCTTTGGGAGAGAAATAGTTAACAAAATCTTTTTTAGAGAGGAATTTGTTATAATGATGTTATCATGGTGAACACCTATATACATAGGTGTTCAAAGTATCTTTTCCCCCACTGCTCCCCCCATCACCACCCCTTTTTTGTTAGCCTAGAATAATGGGCTACGATGTAATAATGGTAATAACCATTATCTCAGCCATGCTAGTGAAATGGAAGGATTCCTGAGTTCTAATACGTTAGGTAATGATTATTAACAATTAATAGTTACTAGCTATTTCAAGCAGTAAGTAATGCCACAGAATCCTAGGCAGTTGGGAAAAGCCCTTAGAATATATTGTAATAGGTTTGACTTAAATTGTGGACACATTCCATGGCTGTTTAAATTTAGGTTGTAAATCCAAGTATTGGCCTGGTTGTAGGGTGACAGAAGCAGCGAACATTGCTGGCCAGAGACTGTGAGTGTGGCTGCCAGTGTGCACAGATGTTGAATAATCTGTTATCAGTACAGCAGTTTCTCACAAGTTCCTAATTTCTTAAGGGGATGTTTTACATTTTATTACTTTAATAGGTGTTTATAGTTATATACTAATTAATGTCAAATACATATGTAATACCAGCTTTTTATACCTTTTACACTAATGGTTATGAGAATTGATGGTTGTTACAAGTTTTTTCAAACTTCAATGAACAAGAATTTTATTGCTTTGTCAACAAAGACTAAGATTTTTTATCCATTCCATTCCCTTCCAAACCTGTAGGAAAAGTTACACAGGAAAGTTGCATAGGGGACCTTCATGAGTCCAGGCCAGTTGTTTTTCATACTGTCTCCATATTTGGATTTGTCTGGTTTGTTGTAATTAGATTGAGGTTAAACCATGGATTGCATCTTAAAGTAGACTGCCTTGAGGCAAAATGTCCACTGTGCATGGTGCTATACCTCACCCAGACCATTGTTACTCTGAAGGAGTTACTGAATGAAGGAGAAAAAAATCACAGGATGTGCATTTCAGTTCTATTTATAGTCAGTCTCAAGAGACCAAAGAGGTAAAGCAGGAAAAGGAACAGGAGGCGTATGGTGGTGAAACTAACTCAGCATTCGCCAGTCTCATTGGTGCTCAGCCTGCTGTACCTGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACTTGAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAGCCTCGTCTCTACAAAAAATGCAGAAATTAGCCAGGTGTGGTGGTGTGGGCCTGTGGTCTCAGCTATTCAGGAGGCCATGGTGGGATAATTGCTTGAGCCCAGGAGGCAGAGGTTGTAGTGAGCCAAGATCACGCCACTGCATTCCAGCCTGGATGACAGAGCGAGGCCCTGTCTCAAAAAAAAGAGACTGTCTGTTTTTCAGGTCTTCTTTGTGATCCGCCTCATTGCTGGCCCTGCTGCCAACTCCCTGCCTCCCATTGTTGATCCTGATCCTCTCATCCCCTGCGATCTGATGGATGGTCGGGATGCGTTTCTCACGCTGGCAAGGGACAAGCACCTGGAGTTCTCTTCACTCCGAAGAGCCCAGTGGTCCACCATGTGCATGCTGGTGGAGCTGCACACGCAGAGCCAGGACCGCTTTGTCTACACCTGCAATGAATGCAAGCACCATGTGGAGACACGCTGGCACTGTACTGTCTGTGAGGTAGGCACCGGGTTGTGGGAAGGAGGAGGTGAGCTCCGCAGGGTTGTTCTGAGGGGCCATGCAGCCACGTATTTTATAGAGGCCTGTGGGATGCTAGGGGCTTGGCCTCGTGTTTGAGGGGCAGAGCTGAAGAGGCTAGTTTTTGTTCTACGAAAGGGGCTTTTCTAGCCCAAACAATATCTAAAATACTTTTGAATGACTTAAATCTTGGAGAGTTTACGTGCACCTCCTGTTTTTTCCCTAGGATTATGACTTGTGTATCACCTGCTATAACACTAAAAACCATGACCACAAAATGGAGAAACTAGGCCTTGGCTTAGATGATGAGAGCAACAACCAGCAGGCTGCAGCCACCCAGAGCCCAGGCGATTCTCGCCGCCTGAGTATCCAGCGCTGCATCCAGTCTCTGGTCCATGCTTGCCAGTGTCGGAATGCCAATTGCTCACTGCCATCCTGCCAGAAGATGAAGCGGGTTGTGCAGCATACCAAGGGTTGCAAACGGAAAACCAATGGCGGGTGCCCCATCTGCAAGCAGCTCATTGCCCTCTGCTGCTACCATGCCAAGCACTGCCAGGAGAACAAATGCCCGGTGCCGTTCTGCCTAAACATCAAGCAGAAGCTCCGGCAGCAACAGCTGCAGCACCGACTACAGCAGGCCCAAATGCTTCGCAGGAGGATGGCCAGCATGCAGCGGACTGGTGTGGTTGGGCAGCAACAGGGCCTCCCTTCCCCCACTCCTGCCACTCCAACGACACCAACTGGCCAACAGCCAACCACCCCGCAGACGCCCCAGCCCACTTCTCAGCCTCAGCCTACCCCTCCCAATAGCATGCCACCCTACTTGCCCAGGACTCAAGCTGCTGGCCCTGTGTCCCAGGGTAAGGCAGCAGGCCAGGTGACCCCTCCAACCCCTCCTCAGACTGCTCAGCCACCCCTTCCAGGGCCCCCACCTGCAGCAGTGGAAATGGCAATGCAGATTCAGAGAGCAGCGGAGACGCAGCGCCAGATGGCCCACGTGCAAATTTTTCAAAGGCCAATCCAACACCAGATGCCCCCGATGACTCCCATGGCCCCCATGGGTATGAACCCACCTCCCATGACCAGAGGTCCCAGTGGGCATTTGGAGCCAGGGATGGGACCGACAGGGATGCAGCAACAGCCACCCTGGAGCCAAGGAGGATTGCCTCAGCCCCAGCAACTACAGTCTGGGATGCCAAGGCCAGCCATGATGTCAGTGGCCCAGCATGGTCAACCTTTGAACATGGCTCCACAACCAGGATTGGGCCAGGTAGGTATCAGCCCACTCAAACCAGGCACTGTGTCTCAACAAGCCTTACAAAACCTTTTGCGGACTCTCAGGTCTCCCAGCTCTCCCCTGCAGCAGCAACAGGTGCTTAGTATCCTTCACGCCAACCCCCAGCTGTTGGCTGCATTCATCAAGCAGCGGGCTGCCAAGTATGCCAACTCTAATCCACAACCCATCCCTGGGCAGCCTGGCATGCCCCAGGGGCAGCCAGGGCTACAGCCACCTACCATGCCAGGTCAGCAGGGGGTCCACTCCAATCCAGCCATGCAGAACATGAATCCAATGCAGGCGGGCGTTCAGAGGGCTGGCCTGCCCCAGCAGCAACCACAGCAGCAACTCCAGCCACCCATGGGAGGGATGAGCCCCCAGGCTCAGCAGATGAACATGAACCACAACACCATGCCTTCACAATTCCGAGACATCTTGAGACGACAGCAAATGATG
|
GCACTTTGGAGGTTGAGGCAGGCGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGCGAACCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGCACACACCTGTAATCCTTGGGATGCTGGGGTGGGAGGATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGCACTTACAGCCTGGGTGACAGAACGAGACTCTGTTTCAAAAAATAAAAAGATTTAACCTTTCTGAAAGTGAATTAGTAAATAGAATTGGAGAAAAGTTAAACTTCCACATATGGACTTACAACCCCCTTCTCAAAACTTTTTGAGTTATTTCATCATTTACATTGTTTAGTTGTTCTTGCAGTCATTTGGGAAAATAACTGGGTAAGGTTTTTTTTTTCTCTCTTTAATATCATATAATTGATAACGAAAGCCAGGAGAATTGAAGAGTAATTCCTCTCAGGGTTTGTCCAATGGTAGTAATCTCGATTGTTCAGTCAGACTCCTCATTTTACTATCTCGGTTCTCAGACATATAATCAAGTTCTTATAGGAAGTGGTAATTAAGTTGAGAGGGAAATGAAGGCTTGATTTCAGGTTGTAATTCCGTACCTAAAAATTGGTTAAACAGTCTCTTTGGGAGAGAAATAGTTAACAAAATCTTTTTTAGAGAGGAATTTGTTATAATGATGTTATCATGGTGAACACCTATATACATAGGTGTTCAAAGTATCTTTTCCCCCACTGCTCCCCCCATCACCACCCCTTTTTTGTTAGCCTAGAATAATGGGCTACGATGTAATAATGGTAATAACCATTATCTCAGCCATGCTAGTGAAATGGAAGGATTCCTGAGTTCTAATACGTTAGGTAATGATTATTAACAATTAATAGTTACTAGCTATTTCAAGCAGTAAGTAATGCCACAGAATCCTAGGCAGTTGGGAAAAGCCCTTAGAATATATTGTAATAGGTTTGACTTAAATTGTGGACACATTCCATGGCTGTTTAAATTTAGGTTGTAAATCCAAGTATTGGCCTGGTTGTAGGGTGACAGAAGCAGCGAACATTGCTGGCCAGAGACTGTGAGTGTGGCTGCCAGTGTGCACAGATGTTGAATAATCTGTTATCAGTACAGCAGTTTCTCACAAGTTCCTAATTTCTTAAGGGGATGTTTTACATTTTATTACTTTAATAGGTGTTTATAGTTATATACTAATTAATGTCAAATACATATGTAATACCAGCTTTTTATACCTTTTACACTAATGGTTATGAGAATTGATGGTTGTTACAAGTTTTTTCAAACTTCAATGAACAAGAATTTTATTGCTTTGTCAACAAAGACTAAGATTTTTTATCCATTCCATTCCCTTCCAAACCTGTAGGAAAAGTTACACAGGAAAGTTGCATAGGGGACCTTCATGAGTCCAGGCCAGTTGTTTTTCATACTGTCTCCATATTTGGATTTGTCTGGTTTGTTGTAATTAGATTGAGGTTAAACCATGGATTGCATCTTAAAGTAGACTGCCTTGAGGCAAAATGTCCACTGTGCATGGTGCTATACCTCACCCAGACCATTGTTACTCTGAAGGAGTTACTGAATGAAGGAGAAAAAAATCACAGGATGTGCATTTCAGTTCTATTTATAGTCAGTCTCAAGAGACCAAAGAGGTAAAGCAGGAAAAGGAACAGGAGGCGTATGGTGGTGAAACTAACTCAGCATTCGCCAGTCTCATTGGTGCTCAGCCTGCTGTACCTGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACTTGAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAGCCTCGTCTCTACAAAAAATGCAGAAATTAGCCAGGTGTGGTGGTGTGGGCCTGTGGTCTCAGCTATTCAGGAGGCCATGGTGGGATAATTGCTTGAGCCCAGGAGGCAGAGGTTGTAGTGAGCCAAGATCACGCCACTGCATTCCAGCCTGGATGACAGAGCGAGGCCCTGTCTCAAAAAAAAGAGACTGTTTTTCAGGTCTTCTTTGTGATCCGCCTCATTGCTGGCCCTGCTGCCAACTCCCTGCCTCCCATTGTTGATCCTGATCCTCTCATCCCCTGCGATCTGATGGATGGTCGGGATGCGTTTCTCACGCTGGCAAGGGACAAGCACCTGGAGTTCTCTTCACTCCGAAGAGCCCAGTGGTCCACCATGTGCATGCTGGTGGAGCTGCACACGCAGAGCCAGGACCGCTTTGTCTACACCTGCAATGAATGCAAGCACCATGTGGAGACACGCTGGCACTGTACTGTCTGTGAGGTAGGCACCGGGTTGTGGGAAGGAGGAGGTGAGCTCCGCAGGGTTGTTCTGAGGGGCCATGCAGCCACGTATTTTATAGAGGCCTGTGGGATGCTAGGGGCTTGGCCTCGTGTTTGAGGGGCAGAGCTGAAGAGGCTAGTTTTTGTTCTACGAAAGGGGCTTTTCTAGCCCAAACAATATCTAAAATACTTTTGAATGACTTAAATCTTGGAGAGTTTACGTGCACCTCCTGTTTTTTCCCTAGGATTATGACTTGTGTATCACCTGCTATAACACTAAAAACCATGACCACAAAATGGAGAAACTAGGCCTTGGCTTAGATGATGAGAGCAACAACCAGCAGGCTGCAGCCACCCAGAGCCCAGGCGATTCTCGCCGCCTGAGTATCCAGCGCTGCATCCAGTCTCTGGTCCATGCTTGCCAGTGTCGGAATGCCAATTGCTCACTGCCATCCTGCCAGAAGATGAAGCGGGTTGTGCAGCATACCAAGGGTTGCAAACGGAAAACCAATGGCGGGTGCCCCATCTGCAAGCAGCTCATTGCCCTCTGCTGCTACCATGCCAAGCACTGCCAGGAGAACAAATGCCCGGTGCCGTTCTGCCTAAACATCAAGCAGAAGCTCCGGCAGCAACAGCTGCAGCACCGACTACAGCAGGCCCAAATGCTTCGCAGGAGGATGGCCAGCATGCAGCGGACTGGTGTGGTTGGGCAGCAACAGGGCCTCCCTTCCCCCACTCCTGCCACTCCAACGACACCAACTGGCCAACAGCCAACCACCCCGCAGACGCCCCAGCCCACTTCTCAGCCTCAGCCTACCCCTCCCAATAGCATGCCACCCTACTTGCCCAGGACTCAAGCTGCTGGCCCTGTGTCCCAGGGTAAGGCAGCAGGCCAGGTGACCCCTCCAACCCCTCCTCAGACTGCTCAGCCACCCCTTCCAGGGCCCCCACCTGCAGCAGTGGAAATGGCAATGCAGATTCAGAGAGCAGCGGAGACGCAGCGCCAGATGGCCCACGTGCAAATTTTTCAAAGGCCAATCCAACACCAGATGCCCCCGATGACTCCCATGGCCCCCATGGGTATGAACCCACCTCCCATGACCAGAGGTCCCAGTGGGCATTTGGAGCCAGGGATGGGACCGACAGGGATGCAGCAACAGCCACCCTGGAGCCAAGGAGGATTGCCTCAGCCCCAGCAACTACAGTCTGGGATGCCAAGGCCAGCCATGATGTCAGTGGCCCAGCATGGTCAACCTTTGAACATGGCTCCACAACCAGGATTGGGCCAGGTAGGTATCAGCCCACTCAAACCAGGCACTGTGTCTCAACAAGCCTTACAAAACCTTTTGCGGACTCTCAGGTCTCCCAGCTCTCCCCTGCAGCAGCAACAGGTGCTTAGTATCCTTCACGCCAACCCCCAGCTGTTGGCTGCATTCATCAAGCAGCGGGCTGCCAAGTATGCCAACTCTAATCCACAACCCATCCCTGGGCAGCCTGGCATGCCCCAGGGGCAGCCAGGGCTACAGCCACCTACCATGCCAGGTCAGCAGGGGGTCCACTCCAATCCAGCCATGCAGAACATGAATCCAATGCAGGCGGGCGTTCAGAGGGCTGGCCTGCCCCAGCAGCAACCACAGCAGCAACTCCAGCCACCCATGGGAGGGATGAGCCCCCAGGCTCAGCAGATGAACATGAACCACAACACCATGCCTTCACAATTCCGAGACATCTTGAGACGACAGCAAATGATGNNNN
|
benign
| 327,555 |
Chromosome 22, position 41178008, gene EP300 (E1A binding protein p300): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency']
|
CTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACTTGAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAGCCTCGTCTCTACAAAAAATGCAGAAATTAGCCAGGTGTGGTGGTGTGGGCCTGTGGTCTCAGCTATTCAGGAGGCCATGGTGGGATAATTGCTTGAGCCCAGGAGGCAGAGGTTGTAGTGAGCCAAGATCACGCCACTGCATTCCAGCCTGGATGACAGAGCGAGGCCCTGTCTCAAAAAAAAGAGACTGTCTGTTTTTCAGGTCTTCTTTGTGATCCGCCTCATTGCTGGCCCTGCTGCCAACTCCCTGCCTCCCATTGTTGATCCTGATCCTCTCATCCCCTGCGATCTGATGGATGGTCGGGATGCGTTTCTCACGCTGGCAAGGGACAAGCACCTGGAGTTCTCTTCACTCCGAAGAGCCCAGTGGTCCACCATGTGCATGCTGGTGGAGCTGCACACGCAGAGCCAGGACCGCTTTGTCTACACCTGCAATGAATGCAAGCACCATGTGGAGACACGCTGGCACTGTACTGTCTGTGAGGTAGGCACCGGGTTGTGGGAAGGAGGAGGTGAGCTCCGCAGGGTTGTTCTGAGGGGCCATGCAGCCACGTATTTTATAGAGGCCTGTGGGATGCTAGGGGCTTGGCCTCGTGTTTGAGGGGCAGAGCTGAAGAGGCTAGTTTTTGTTCTACGAAAGGGGCTTTTCTAGCCCAAACAATATCTAAAATACTTTTGAATGACTTAAATCTTGGAGAGTTTACGTGCACCTCCTGTTTTTTCCCTAGGATTATGACTTGTGTATCACCTGCTATAACACTAAAAACCATGACCACAAAATGGAGAAACTAGGCCTTGGCTTAGATGATGAGAGCAACAACCAGCAGGCTGCAGCCACCCAGAGCCCAGGCGATTCTCGCCGCCTGAGTATCCAGCGCTGCATCCAGTCTCTGGTCCATGCTTGCCAGTGTCGGAATGCCAATTGCTCACTGCCATCCTGCCAGAAGATGAAGCGGGTTGTGCAGCATACCAAGGGTTGCAAACGGAAAACCAATGGCGGGTGCCCCATCTGCAAGCAGCTCATTGCCCTCTGCTGCTACCATGCCAAGCACTGCCAGGAGAACAAATGCCCGGTGCCGTTCTGCCTAAACATCAAGCAGAAGCTCCGGCAGCAACAGCTGCAGCACCGACTACAGCAGGCCCAAATGCTTCGCAGGAGGATGGCCAGCATGCAGCGGACTGGTGTGGTTGGGCAGCAACAGGGCCTCCCTTCCCCCACTCCTGCCACTCCAACGACACCAACTGGCCAACAGCCAACCACCCCGCAGACGCCCCAGCCCACTTCTCAGCCTCAGCCTACCCCTCCCAATAGCATGCCACCCTACTTGCCCAGGACTCAAGCTGCTGGCCCTGTGTCCCAGGGTAAGGCAGCAGGCCAGGTGACCCCTCCAACCCCTCCTCAGACTGCTCAGCCACCCCTTCCAGGGCCCCCACCTGCAGCAGTGGAAATGGCAATGCAGATTCAGAGAGCAGCGGAGACGCAGCGCCAGATGGCCCACGTGCAAATTTTTCAAAGGCCAATCCAACACCAGATGCCCCCGATGACTCCCATGGCCCCCATGGGTATGAACCCACCTCCCATGACCAGAGGTCCCAGTGGGCATTTGGAGCCAGGGATGGGACCGACAGGGATGCAGCAACAGCCACCCTGGAGCCAAGGAGGATTGCCTCAGCCCCAGCAACTACAGTCTGGGATGCCAAGGCCAGCCATGATGTCAGTGGCCCAGCATGGTCAACCTTTGAACATGGCTCCACAACCAGGATTGGGCCAGGTAGGTATCAGCCCACTCAAACCAGGCACTGTGTCTCAACAAGCCTTACAAAACCTTTTGCGGACTCTCAGGTCTCCCAGCTCTCCCCTGCAGCAGCAACAGGTGCTTAGTATCCTTCACGCCAACCCCCAGCTGTTGGCTGCATTCATCAAGCAGCGGGCTGCCAAGTATGCCAACTCTAATCCACAACCCATCCCTGGGCAGCCTGGCATGCCCCAGGGGCAGCCAGGGCTACAGCCACCTACCATGCCAGGTCAGCAGGGGGTCCACTCCAATCCAGCCATGCAGAACATGAATCCAATGCAGGCGGGCGTTCAGAGGGCTGGCCTGCCCCAGCAGCAACCACAGCAGCAACTCCAGCCACCCATGGGAGGGATGAGCCCCCAGGCTCAGCAGATGAACATGAACCACAACACCATGCCTTCACAATTCCGAGACATCTTGAGACGACAGCAAATGATGCAACAGCAGCAGCAACAGGGAGCAGGGCCAGGAATAGGCCCTGGAATGGCCAACCATAACCAGTTCCAGCAACCCCAAGGAGTTGGCTACCCACCACAGCAGCAGCAGCGGATGCAGCATCACATGCAACAGATGCAACAAGGAAATATGGGACAGATAGGCCAGCTTCCCCAGGCCTTGGGAGCAGAGGCAGGTGCCAGTCTACAGGCCTATCAGCAGCGACTCCTTCAGCAACAGATGGGGTCCCCTGTTCAGCCCAACCCCATGAGCCCCCAGCAGCATATGCTCCCAAATCAGGCCCAGTCCCCACACCTACAAGGCCAGCAGATCCCTAATTCTCTCTCCAATCAAGTGCGCTCTCCCCAGCCTGTCCCTTCTCCACGGCCACAGTCCCAGCCCCCCCACTCCAGTCCTTCCCCAAGGATGCAGCCTCAGCCTTCTCCACACCACGTTTCCCCACAGACAAGTTCCCCACATCCTGGACTGGTAGCTGCCCAGGCCAACCCCATGGAACAAGGGCATTTTGCCAGCCCGGACCAGAATTCAATGCTTTCTCAGCTTGCTAGCAATCCAGGCATGGCAAACCTCCATGGTGCAAGCGCCACGGACCTGGGACTCAGCACCGATAACTCAGACTTGAATTCAAACCTCTCACAGAGTACACTAGACATACACTAGAGACACCTTGTAGTATTTTGGGAGCAAAAAAATTATTTTCTCTTAACAAGACTTTTTGTACTGAAAACAATTTTTTTGAATCTTTCGTAGCCTAAAAGACAATTTTCCTTGGAACACATAAGAACTGTGCAGTAGCCGTTTGTGGTTTAAAGCAAACATGCAAGATGAACCTGAGGGATGATAGAATACAAAGAATATATTTTTGTTATGGCTGGTTACCACCAGCCTTTCTTCCCCTTTGTGTGTGTGGTTCAAGTGTGCACTGGGAGGAGGCTGAGGCCTGTGAAGCCAAACAATATGCTCCTGCCTTGCACCTCCAATAGGTTTTATTATTTTTTTTAAATTAATGAACATATGTAATATTAATAGTTATTATTTACTGGTGCAGATGGTTGACATTTTTCCCTATTTTCCTCACTTTATGGAAGAGTTAAAACATTTCTAAACCAGAGGACAAAAGGGGTTAATGTTACTTTAAAATTACATTCTATATATATATAAATATATATAAATATATATTAAAATACCAGTTTTTTTTCTCTGGGTGCAAAGATGTTCATTCTTTTAAAAAATGTTTAAAAAAAAAAAAAAACTGCCTTTCTTCCCCTCAAGTCAACTTTTGTGCTCCAGAAAATTTTCTATTCTGTAAGTCTGAGCGTAAAACTTCAAGTATTAAAATAATTTGTACATGTAGAGAGAAAAATGACTTTTTCAAAAATATACAGGGGCAGCTGCCAAATTGATGTATTATATATTGTGGTTTCTGTTTCTTGAAAGAATTTTTTTCGTTATTTTTACATCTAACAAAGTAAAAAAATTAAAAAGAGGGTAAGAAACGATTCCGGTGGGATGATTTTAACATGCAAAATGTCCCTGGGGGTTTCTTCTTTGCTTGCTTTCTTCCTCCTTACCCTACCCCCCACTCACACACACACACACACACACACACACACACACACACACACACTTTCTATAAAACTTGAAAATAGCAAAAACCCTCAACTGTTGTAAATCATGCAATTAAAGTTGATTACTTATAAATATGAACTTTGGATCACTGTATAGACTGTTAAATTTGATTTCTTATTACCTATTGTTA
|
CTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGCAGATCACTTGAGCTTAGGAGTTTGAGACCAGCCTGGGCAACATGGCGAAGCCTCGTCTCTACAAAAAATGCAGAAATTAGCCAGGTGTGGTGGTGTGGGCCTGTGGTCTCAGCTATTCAGGAGGCCATGGTGGGATAATTGCTTGAGCCCAGGAGGCAGAGGTTGTAGTGAGCCAAGATCACGCCACTGCATTCCAGCCTGGATGACAGAGCGAGGCCCTGTCTCAAAAAAAAGAGACTGTCTGTTTTTCAGGTCTTCTTTGTGATCCGCCTCATTGCTGGCCCTGCTGCCAACTCCCTGCCTCCCATTGTTGATCCTGATCCTCTCATCCCCTGCGATCTGATGGATGGTCGGGATGCGTTTCTCACGCTGGCAAGGGACAAGCACCTGGAGTTCTCTTCACTCCGAAGAGCCCAGTGGTCCACCATGTGCATGCTGGTGGAGCTGCACACGCAGAGCCAGGACCGCTTTGTCTACACCTGCAATGAATGCAAGCACCATGTGGAGACACGCTGGCACTGTACTGTCTGTGAGGTAGGCACCGGGTTGTGGGAAGGAGGAGGTGAGCTCCGCAGGGTTGTTCTGAGGGGCCATGCAGCCACGTATTTTATAGAGGCCTGTGGGATGCTAGGGGCTTGGCCTCGTGTTTGAGGGGCAGAGCTGAAGAGGCTAGTTTTTGTTCTACGAAAGGGGCTTTTCTAGCCCAAACAATATCTAAAATACTTTTGAATGACTTAAATCTTGGAGAGTTTACGTGCACCTCCTGTTTTTTCCCTAGGATTATGACTTGTGTATCACCTGCTATAACACTAAAAACCATGACCACAAAATGGAGAAACTAGGCCTTGGCTTAGATGATGAGAGCAACAACCAGCAGGCTGCAGCCACCCAGAGCCCAGGCGATTCTCGCCGCCTGAGTATCCAGCGCTGCATCCAGTCTCTGGTCCATGCTTGCCAGTGTCGGAATGCCAATTGCTCACTGCCATCCTGCCAGAAGATGAAGCGGGTTGTGCAGCATACCAAGGGTTGCAAACGGAAAACCAATGGCGGGTGCCCCATCTGCAAGCAGCTCATTGCCCTCTGCTGCTACCATGCCAAGCACTGCCAGGAGAACAAATGCCCGGTGCCGTTCTGCCTAAACATCAAGCAGAAGCTCCGGCAGCAACAGCTGCAGCACCGACTACAGCAGGCCCAAATGCTTCGCAGGAGGATGGCCAGCATGCAGCGGACTGGTGTGGTTGGGCAGCAACAGGGCCTCCCTTCCCCCACTCCTGCCACTCCAACGACACCAACTGGCCAACAGCCAACCACCCCGCAGACGCCCCAGCCCACTTCTCAGCCTCAGCCTACCCCTCCCAATAGCATGCCACCCTACTTGCCCAGGACTCAAGCTGCTGGCCCTGTGTCCCAGGGTAAGGCAGCAGGCCAGGTGACCCCTCCAACCCCTCCTCAGACTGCTCAGCCACCCCTTCCAGGGCCCCCACCTGCAGCAGTGGAAATGGCAATGCAGATTCAGAGAGCAGCGGAGACGCAGCGCCAGATGGCCCACGTGCAAATTTTTCAAAGGCCAATCCAACACCAGATGCCCCCGATGACTCCCATGGCCCCCATGGGTATGAACCCACCTCCCATGACCAGAGGTCCCAGTGGGCATTTGGAGCCAGGGATGGGACCGACAGGGATGCAGCAACAGCCACCCTGGAGCCAAGGAGGATTGCCTCAGCCCCAGCAACTACAGTCTGGGATGCCAAGGCCAGCCATGATGTCAGTGGCCCAGCATGGTCAACCTTTGAACATGGCTCCACAACCAGGATTGGGCCAGGTAGGTATCAGCCCACTCAAACCAGGCACTGTGTCTCAACAAGCCTTACAAAACCTTTTGCGGACTCTCAGGTCTCCCAGCTCTCCCCTGCAGCAGCAACAGGTGCTTAGTATCCTTCACGCCAACCCCCAGCTGTTGGCTGCATTCATCAAGCAGCGGGCTGCCAAGTATGCCAACTCTAATCCACAACCCGCCCCAGGGGCAGCCAGGGCTACAGCCACCTACCATGCCAGGTCAGCAGGGGGTCCACTCCAATCCAGCCATGCAGAACATGAATCCAATGCAGGCGGGCGTTCAGAGGGCTGGCCTGCCCCAGCAGCAACCACAGCAGCAACTCCAGCCACCCATGGGAGGGATGAGCCCCCAGGCTCAGCAGATGAACATGAACCACAACACCATGCCTTCACAATTCCGAGACATCTTGAGACGACAGCAAATGATGCAACAGCAGCAGCAACAGGGAGCAGGGCCAGGAATAGGCCCTGGAATGGCCAACCATAACCAGTTCCAGCAACCCCAAGGAGTTGGCTACCCACCACAGCAGCAGCAGCGGATGCAGCATCACATGCAACAGATGCAACAAGGAAATATGGGACAGATAGGCCAGCTTCCCCAGGCCTTGGGAGCAGAGGCAGGTGCCAGTCTACAGGCCTATCAGCAGCGACTCCTTCAGCAACAGATGGGGTCCCCTGTTCAGCCCAACCCCATGAGCCCCCAGCAGCATATGCTCCCAAATCAGGCCCAGTCCCCACACCTACAAGGCCAGCAGATCCCTAATTCTCTCTCCAATCAAGTGCGCTCTCCCCAGCCTGTCCCTTCTCCACGGCCACAGTCCCAGCCCCCCCACTCCAGTCCTTCCCCAAGGATGCAGCCTCAGCCTTCTCCACACCACGTTTCCCCACAGACAAGTTCCCCACATCCTGGACTGGTAGCTGCCCAGGCCAACCCCATGGAACAAGGGCATTTTGCCAGCCCGGACCAGAATTCAATGCTTTCTCAGCTTGCTAGCAATCCAGGCATGGCAAACCTCCATGGTGCAAGCGCCACGGACCTGGGACTCAGCACCGATAACTCAGACTTGAATTCAAACCTCTCACAGAGTACACTAGACATACACTAGAGACACCTTGTAGTATTTTGGGAGCAAAAAAATTATTTTCTCTTAACAAGACTTTTTGTACTGAAAACAATTTTTTTGAATCTTTCGTAGCCTAAAAGACAATTTTCCTTGGAACACATAAGAACTGTGCAGTAGCCGTTTGTGGTTTAAAGCAAACATGCAAGATGAACCTGAGGGATGATAGAATACAAAGAATATATTTTTGTTATGGCTGGTTACCACCAGCCTTTCTTCCCCTTTGTGTGTGTGGTTCAAGTGTGCACTGGGAGGAGGCTGAGGCCTGTGAAGCCAAACAATATGCTCCTGCCTTGCACCTCCAATAGGTTTTATTATTTTTTTTAAATTAATGAACATATGTAATATTAATAGTTATTATTTACTGGTGCAGATGGTTGACATTTTTCCCTATTTTCCTCACTTTATGGAAGAGTTAAAACATTTCTAAACCAGAGGACAAAAGGGGTTAATGTTACTTTAAAATTACATTCTATATATATATAAATATATATAAATATATATTAAAATACCAGTTTTTTTTCTCTGGGTGCAAAGATGTTCATTCTTTTAAAAAATGTTTAAAAAAAAAAAAAAACTGCCTTTCTTCCCCTCAAGTCAACTTTTGTGCTCCAGAAAATTTTCTATTCTGTAAGTCTGAGCGTAAAACTTCAAGTATTAAAATAATTTGTACATGTAGAGAGAAAAATGACTTTTTCAAAAATATACAGGGGCAGCTGCCAAATTGATGTATTATATATTGTGGTTTCTGTTTCTTGAAAGAATTTTTTTCGTTATTTTTACATCTAACAAAGTAAAAAAATTAAAAAGAGGGTAAGAAACGATTCCGGTGGGATGATTTTAACATGCAAAATGTCCCTGGGGGTTTCTTCTTTGCTTGCTTTCTTCCTCCTTACCCTACCCCCCACTCACACACACACACACACACACACACACACACACACACACACACTTTCTATAAAACTTGAAAATAGCAAAAACCCTCAACTGTTGTAAATCATGCAATTAAAGTTGATTACTTATAAATATGAACTTTGGATCACTGTATAGACTGTTAAATTTGATTTCTTATTACCTATTGTTANNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 327,587 |
A genetic variant at chromosome 22, position 41178506, affecting gene EP300 (E1A binding protein p300)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
benign
|
ACCGCTTTGTCTACACCTGCAATGAATGCAAGCACCATGTGGAGACACGCTGGCACTGTACTGTCTGTGAGGTAGGCACCGGGTTGTGGGAAGGAGGAGGTGAGCTCCGCAGGGTTGTTCTGAGGGGCCATGCAGCCACGTATTTTATAGAGGCCTGTGGGATGCTAGGGGCTTGGCCTCGTGTTTGAGGGGCAGAGCTGAAGAGGCTAGTTTTTGTTCTACGAAAGGGGCTTTTCTAGCCCAAACAATATCTAAAATACTTTTGAATGACTTAAATCTTGGAGAGTTTACGTGCACCTCCTGTTTTTTCCCTAGGATTATGACTTGTGTATCACCTGCTATAACACTAAAAACCATGACCACAAAATGGAGAAACTAGGCCTTGGCTTAGATGATGAGAGCAACAACCAGCAGGCTGCAGCCACCCAGAGCCCAGGCGATTCTCGCCGCCTGAGTATCCAGCGCTGCATCCAGTCTCTGGTCCATGCTTGCCAGTGTCGGAATGCCAATTGCTCACTGCCATCCTGCCAGAAGATGAAGCGGGTTGTGCAGCATACCAAGGGTTGCAAACGGAAAACCAATGGCGGGTGCCCCATCTGCAAGCAGCTCATTGCCCTCTGCTGCTACCATGCCAAGCACTGCCAGGAGAACAAATGCCCGGTGCCGTTCTGCCTAAACATCAAGCAGAAGCTCCGGCAGCAACAGCTGCAGCACCGACTACAGCAGGCCCAAATGCTTCGCAGGAGGATGGCCAGCATGCAGCGGACTGGTGTGGTTGGGCAGCAACAGGGCCTCCCTTCCCCCACTCCTGCCACTCCAACGACACCAACTGGCCAACAGCCAACCACCCCGCAGACGCCCCAGCCCACTTCTCAGCCTCAGCCTACCCCTCCCAATAGCATGCCACCCTACTTGCCCAGGACTCAAGCTGCTGGCCCTGTGTCCCAGGGTAAGGCAGCAGGCCAGGTGACCCCTCCAACCCCTCCTCAGACTGCTCAGCCACCCCTTCCAGGGCCCCCACCTGCAGCAGTGGAAATGGCAATGCAGATTCAGAGAGCAGCGGAGACGCAGCGCCAGATGGCCCACGTGCAAATTTTTCAAAGGCCAATCCAACACCAGATGCCCCCGATGACTCCCATGGCCCCCATGGGTATGAACCCACCTCCCATGACCAGAGGTCCCAGTGGGCATTTGGAGCCAGGGATGGGACCGACAGGGATGCAGCAACAGCCACCCTGGAGCCAAGGAGGATTGCCTCAGCCCCAGCAACTACAGTCTGGGATGCCAAGGCCAGCCATGATGTCAGTGGCCCAGCATGGTCAACCTTTGAACATGGCTCCACAACCAGGATTGGGCCAGGTAGGTATCAGCCCACTCAAACCAGGCACTGTGTCTCAACAAGCCTTACAAAACCTTTTGCGGACTCTCAGGTCTCCCAGCTCTCCCCTGCAGCAGCAACAGGTGCTTAGTATCCTTCACGCCAACCCCCAGCTGTTGGCTGCATTCATCAAGCAGCGGGCTGCCAAGTATGCCAACTCTAATCCACAACCCATCCCTGGGCAGCCTGGCATGCCCCAGGGGCAGCCAGGGCTACAGCCACCTACCATGCCAGGTCAGCAGGGGGTCCACTCCAATCCAGCCATGCAGAACATGAATCCAATGCAGGCGGGCGTTCAGAGGGCTGGCCTGCCCCAGCAGCAACCACAGCAGCAACTCCAGCCACCCATGGGAGGGATGAGCCCCCAGGCTCAGCAGATGAACATGAACCACAACACCATGCCTTCACAATTCCGAGACATCTTGAGACGACAGCAAATGATGCAACAGCAGCAGCAACAGGGAGCAGGGCCAGGAATAGGCCCTGGAATGGCCAACCATAACCAGTTCCAGCAACCCCAAGGAGTTGGCTACCCACCACAGCAGCAGCAGCGGATGCAGCATCACATGCAACAGATGCAACAAGGAAATATGGGACAGATAGGCCAGCTTCCCCAGGCCTTGGGAGCAGAGGCAGGTGCCAGTCTACAGGCCTATCAGCAGCGACTCCTTCAGCAACAGATGGGGTCCCCTGTTCAGCCCAACCCCATGAGCCCCCAGCAGCATATGCTCCCAAATCAGGCCCAGTCCCCACACCTACAAGGCCAGCAGATCCCTAATTCTCTCTCCAATCAAGTGCGCTCTCCCCAGCCTGTCCCTTCTCCACGGCCACAGTCCCAGCCCCCCCACTCCAGTCCTTCCCCAAGGATGCAGCCTCAGCCTTCTCCACACCACGTTTCCCCACAGACAAGTTCCCCACATCCTGGACTGGTAGCTGCCCAGGCCAACCCCATGGAACAAGGGCATTTTGCCAGCCCGGACCAGAATTCAATGCTTTCTCAGCTTGCTAGCAATCCAGGCATGGCAAACCTCCATGGTGCAAGCGCCACGGACCTGGGACTCAGCACCGATAACTCAGACTTGAATTCAAACCTCTCACAGAGTACACTAGACATACACTAGAGACACCTTGTAGTATTTTGGGAGCAAAAAAATTATTTTCTCTTAACAAGACTTTTTGTACTGAAAACAATTTTTTTGAATCTTTCGTAGCCTAAAAGACAATTTTCCTTGGAACACATAAGAACTGTGCAGTAGCCGTTTGTGGTTTAAAGCAAACATGCAAGATGAACCTGAGGGATGATAGAATACAAAGAATATATTTTTGTTATGGCTGGTTACCACCAGCCTTTCTTCCCCTTTGTGTGTGTGGTTCAAGTGTGCACTGGGAGGAGGCTGAGGCCTGTGAAGCCAAACAATATGCTCCTGCCTTGCACCTCCAATAGGTTTTATTATTTTTTTTAAATTAATGAACATATGTAATATTAATAGTTATTATTTACTGGTGCAGATGGTTGACATTTTTCCCTATTTTCCTCACTTTATGGAAGAGTTAAAACATTTCTAAACCAGAGGACAAAAGGGGTTAATGTTACTTTAAAATTACATTCTATATATATATAAATATATATAAATATATATTAAAATACCAGTTTTTTTTCTCTGGGTGCAAAGATGTTCATTCTTTTAAAAAATGTTTAAAAAAAAAAAAAAACTGCCTTTCTTCCCCTCAAGTCAACTTTTGTGCTCCAGAAAATTTTCTATTCTGTAAGTCTGAGCGTAAAACTTCAAGTATTAAAATAATTTGTACATGTAGAGAGAAAAATGACTTTTTCAAAAATATACAGGGGCAGCTGCCAAATTGATGTATTATATATTGTGGTTTCTGTTTCTTGAAAGAATTTTTTTCGTTATTTTTACATCTAACAAAGTAAAAAAATTAAAAAGAGGGTAAGAAACGATTCCGGTGGGATGATTTTAACATGCAAAATGTCCCTGGGGGTTTCTTCTTTGCTTGCTTTCTTCCTCCTTACCCTACCCCCCACTCACACACACACACACACACACACACACACACACACACACACACTTTCTATAAAACTTGAAAATAGCAAAAACCCTCAACTGTTGTAAATCATGCAATTAAAGTTGATTACTTATAAATATGAACTTTGGATCACTGTATAGACTGTTAAATTTGATTTCTTATTACCTATTGTTAAATAAACTGTGTGAGACAGACACCCTGACTTTGTTTCACTTGATAACACATCTTTGTCTTGGAGTACACCCGTTTTAAGTGCCTAATGCTTAGGATTCAGAGGAAAAAGTGAAAGCATTAGCTTATAGCCTCTTTAATCTACTACGTATAATGTATTCACAAGTAGATCTTGGTGAATTTATCCAAAGTTCTGGGAAAAAGTACTGCAGGTACCAGCTAACAGTCAAGGTGGAAGTGATAACCTACTTAACACCTTGATACAGGACCCCTTAAGGATGACCTCATGGTCTTCCAATCACCTTCATCTTACAGGGATGAGAAGGAGGACCTAAGAAGACGGATCATATCTGCCTAAGTCCCAAGTAACTTCTTGGAAAAAACAAGACTTGCCAGGCATGGTGGCTCACGCCTATAATCCCAACATTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCCCA
|
ACCGCTTTGTCTACACCTGCAATGAATGCAAGCACCATGTGGAGACACGCTGGCACTGTACTGTCTGTGAGGTAGGCACCGGGTTGTGGGAAGGAGGAGGTGAGCTCCGCAGGGTTGTTCTGAGGGGCCATGCAGCCACGTATTTTATAGAGGCCTGTGGGATGCTAGGGGCTTGGCCTCGTGTTTGAGGGGCAGAGCTGAAGAGGCTAGTTTTTGTTCTACGAAAGGGGCTTTTCTAGCCCAAACAATATCTAAAATACTTTTGAATGACTTAAATCTTGGAGAGTTTACGTGCACCTCCTGTTTTTTCCCTAGGATTATGACTTGTGTATCACCTGCTATAACACTAAAAACCATGACCACAAAATGGAGAAACTAGGCCTTGGCTTAGATGATGAGAGCAACAACCAGCAGGCTGCAGCCACCCAGAGCCCAGGCGATTCTCGCCGCCTGAGTATCCAGCGCTGCATCCAGTCTCTGGTCCATGCTTGCCAGTGTCGGAATGCCAATTGCTCACTGCCATCCTGCCAGAAGATGAAGCGGGTTGTGCAGCATACCAAGGGTTGCAAACGGAAAACCAATGGCGGGTGCCCCATCTGCAAGCAGCTCATTGCCCTCTGCTGCTACCATGCCAAGCACTGCCAGGAGAACAAATGCCCGGTGCCGTTCTGCCTAAACATCAAGCAGAAGCTCCGGCAGCAACAGCTGCAGCACCGACTACAGCAGGCCCAAATGCTTCGCAGGAGGATGGCCAGCATGCAGCGGACTGGTGTGGTTGGGCAGCAACAGGGCCTCCCTTCCCCCACTCCTGCCACTCCAACGACACCAACTGGCCAACAGCCAACCACCCCGCAGACGCCCCAGCCCACTTCTCAGCCTCAGCCTACCCCTCCCAATAGCATGCCACCCTACTTGCCCAGGACTCAAGCTGCTGGCCCTGTGTCCCAGGGTAAGGCAGCAGGCCAGGTGACCCCTCCAACCCCTCCTCAGACTGCTCAGCCACCCCTTCCAGGGCCCCCACCTGCAGCAGTGGAAATGGCAATGCAGATTCAGAGAGCAGCGGAGACGCAGCGCCAGATGGCCCACGTGCAAATTTTTCAAAGGCCAATCCAACACCAGATGCCCCCGATGACTCCCATGGCCCCCATGGGTATGAACCCACCTCCCATGACCAGAGGTCCCAGTGGGCATTTGGAGCCAGGGATGGGACCGACAGGGATGCAGCAACAGCCACCCTGGAGCCAAGGAGGATTGCCTCAGCCCCAGCAACTACAGTCTGGGATGCCAAGGCCAGCCATGATGTCAGTGGCCCAGCATGGTCAACCTTTGAACATGGCTCCACAACCAGGATTGGGCCAGGTAGGTATCAGCCCACTCAAACCAGGCACTGTGTCTCAACAAGCCTTACAAAACCTTTTGCGGACTCTCAGGTCTCCCAGCTCTCCCCTGCAGCAGCAACAGGTGCTTAGTATCCTTCACGCCAACCCCCAGCTGTTGGCTGCATTCATCAAGCAGCGGGCTGCCAAGTATGCCAACTCTAATCCACAACCCATCCCTGGGCAGCCTGGCATGCCCCAGGGGCAGCCAGGGCTACAGCCACCTACCATGCCAGGTCAGCAGGGGGTCCACTCCAATCCAGCCATGCAGAACATGAATCCAATGCAGGCGGGCGTTCAGAGGGCTGGCCTGCCCCAGCAGCAACCACAGCAGCAACTCCAGCCACCCATGGGAGGGATGAGCCCCCAGGCTCAGCAGATGAACATGAACCACAACACCATGCCTTCACAATTCCGAGACATCTTGAGACGACAGCAAATGATGCAACAGCAGCAGCAACAGGGAGCAGGGCCAGGAATAGGCCCTGGAATGGCCAACCATAACCAGTTCCAGCAACCCCAAGGAGTTGGCTACCCACCACAGCAGCAGCAGCGGATGCAGCATCACATGCAACAGATGCAACAAGGAAATATGGGACAGATAGGCCAGCTTCCCCAGGCCTTGGGAGCAGAGGCAGGTGCCAGTCTACAGGCCTATCAGCAGCGACTCCTTCAACAGATGGGGTCCCCTGTTCAGCCCAACCCCATGAGCCCCCAGCAGCATATGCTCCCAAATCAGGCCCAGTCCCCACACCTACAAGGCCAGCAGATCCCTAATTCTCTCTCCAATCAAGTGCGCTCTCCCCAGCCTGTCCCTTCTCCACGGCCACAGTCCCAGCCCCCCCACTCCAGTCCTTCCCCAAGGATGCAGCCTCAGCCTTCTCCACACCACGTTTCCCCACAGACAAGTTCCCCACATCCTGGACTGGTAGCTGCCCAGGCCAACCCCATGGAACAAGGGCATTTTGCCAGCCCGGACCAGAATTCAATGCTTTCTCAGCTTGCTAGCAATCCAGGCATGGCAAACCTCCATGGTGCAAGCGCCACGGACCTGGGACTCAGCACCGATAACTCAGACTTGAATTCAAACCTCTCACAGAGTACACTAGACATACACTAGAGACACCTTGTAGTATTTTGGGAGCAAAAAAATTATTTTCTCTTAACAAGACTTTTTGTACTGAAAACAATTTTTTTGAATCTTTCGTAGCCTAAAAGACAATTTTCCTTGGAACACATAAGAACTGTGCAGTAGCCGTTTGTGGTTTAAAGCAAACATGCAAGATGAACCTGAGGGATGATAGAATACAAAGAATATATTTTTGTTATGGCTGGTTACCACCAGCCTTTCTTCCCCTTTGTGTGTGTGGTTCAAGTGTGCACTGGGAGGAGGCTGAGGCCTGTGAAGCCAAACAATATGCTCCTGCCTTGCACCTCCAATAGGTTTTATTATTTTTTTTAAATTAATGAACATATGTAATATTAATAGTTATTATTTACTGGTGCAGATGGTTGACATTTTTCCCTATTTTCCTCACTTTATGGAAGAGTTAAAACATTTCTAAACCAGAGGACAAAAGGGGTTAATGTTACTTTAAAATTACATTCTATATATATATAAATATATATAAATATATATTAAAATACCAGTTTTTTTTCTCTGGGTGCAAAGATGTTCATTCTTTTAAAAAATGTTTAAAAAAAAAAAAAAACTGCCTTTCTTCCCCTCAAGTCAACTTTTGTGCTCCAGAAAATTTTCTATTCTGTAAGTCTGAGCGTAAAACTTCAAGTATTAAAATAATTTGTACATGTAGAGAGAAAAATGACTTTTTCAAAAATATACAGGGGCAGCTGCCAAATTGATGTATTATATATTGTGGTTTCTGTTTCTTGAAAGAATTTTTTTCGTTATTTTTACATCTAACAAAGTAAAAAAATTAAAAAGAGGGTAAGAAACGATTCCGGTGGGATGATTTTAACATGCAAAATGTCCCTGGGGGTTTCTTCTTTGCTTGCTTTCTTCCTCCTTACCCTACCCCCCACTCACACACACACACACACACACACACACACACACACACACACACTTTCTATAAAACTTGAAAATAGCAAAAACCCTCAACTGTTGTAAATCATGCAATTAAAGTTGATTACTTATAAATATGAACTTTGGATCACTGTATAGACTGTTAAATTTGATTTCTTATTACCTATTGTTAAATAAACTGTGTGAGACAGACACCCTGACTTTGTTTCACTTGATAACACATCTTTGTCTTGGAGTACACCCGTTTTAAGTGCCTAATGCTTAGGATTCAGAGGAAAAAGTGAAAGCATTAGCTTATAGCCTCTTTAATCTACTACGTATAATGTATTCACAAGTAGATCTTGGTGAATTTATCCAAAGTTCTGGGAAAAAGTACTGCAGGTACCAGCTAACAGTCAAGGTGGAAGTGATAACCTACTTAACACCTTGATACAGGACCCCTTAAGGATGACCTCATGGTCTTCCAATCACCTTCATCTTACAGGGATGAGAAGGAGGACCTAAGAAGACGGATCATATCTGCCTAAGTCCCAAGTAACTTCTTGGAAAAAACAAGACTTGCCAGGCATGGTGGCTCACGCCTATAATCCCAACATTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCCCANNN
|
benign
| 327,606 |
A genetic alteration at chromosome 22, position 41178674, in gene EP300 (E1A binding protein p300)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic
|
GGGCTTGGCCTCGTGTTTGAGGGGCAGAGCTGAAGAGGCTAGTTTTTGTTCTACGAAAGGGGCTTTTCTAGCCCAAACAATATCTAAAATACTTTTGAATGACTTAAATCTTGGAGAGTTTACGTGCACCTCCTGTTTTTTCCCTAGGATTATGACTTGTGTATCACCTGCTATAACACTAAAAACCATGACCACAAAATGGAGAAACTAGGCCTTGGCTTAGATGATGAGAGCAACAACCAGCAGGCTGCAGCCACCCAGAGCCCAGGCGATTCTCGCCGCCTGAGTATCCAGCGCTGCATCCAGTCTCTGGTCCATGCTTGCCAGTGTCGGAATGCCAATTGCTCACTGCCATCCTGCCAGAAGATGAAGCGGGTTGTGCAGCATACCAAGGGTTGCAAACGGAAAACCAATGGCGGGTGCCCCATCTGCAAGCAGCTCATTGCCCTCTGCTGCTACCATGCCAAGCACTGCCAGGAGAACAAATGCCCGGTGCCGTTCTGCCTAAACATCAAGCAGAAGCTCCGGCAGCAACAGCTGCAGCACCGACTACAGCAGGCCCAAATGCTTCGCAGGAGGATGGCCAGCATGCAGCGGACTGGTGTGGTTGGGCAGCAACAGGGCCTCCCTTCCCCCACTCCTGCCACTCCAACGACACCAACTGGCCAACAGCCAACCACCCCGCAGACGCCCCAGCCCACTTCTCAGCCTCAGCCTACCCCTCCCAATAGCATGCCACCCTACTTGCCCAGGACTCAAGCTGCTGGCCCTGTGTCCCAGGGTAAGGCAGCAGGCCAGGTGACCCCTCCAACCCCTCCTCAGACTGCTCAGCCACCCCTTCCAGGGCCCCCACCTGCAGCAGTGGAAATGGCAATGCAGATTCAGAGAGCAGCGGAGACGCAGCGCCAGATGGCCCACGTGCAAATTTTTCAAAGGCCAATCCAACACCAGATGCCCCCGATGACTCCCATGGCCCCCATGGGTATGAACCCACCTCCCATGACCAGAGGTCCCAGTGGGCATTTGGAGCCAGGGATGGGACCGACAGGGATGCAGCAACAGCCACCCTGGAGCCAAGGAGGATTGCCTCAGCCCCAGCAACTACAGTCTGGGATGCCAAGGCCAGCCATGATGTCAGTGGCCCAGCATGGTCAACCTTTGAACATGGCTCCACAACCAGGATTGGGCCAGGTAGGTATCAGCCCACTCAAACCAGGCACTGTGTCTCAACAAGCCTTACAAAACCTTTTGCGGACTCTCAGGTCTCCCAGCTCTCCCCTGCAGCAGCAACAGGTGCTTAGTATCCTTCACGCCAACCCCCAGCTGTTGGCTGCATTCATCAAGCAGCGGGCTGCCAAGTATGCCAACTCTAATCCACAACCCATCCCTGGGCAGCCTGGCATGCCCCAGGGGCAGCCAGGGCTACAGCCACCTACCATGCCAGGTCAGCAGGGGGTCCACTCCAATCCAGCCATGCAGAACATGAATCCAATGCAGGCGGGCGTTCAGAGGGCTGGCCTGCCCCAGCAGCAACCACAGCAGCAACTCCAGCCACCCATGGGAGGGATGAGCCCCCAGGCTCAGCAGATGAACATGAACCACAACACCATGCCTTCACAATTCCGAGACATCTTGAGACGACAGCAAATGATGCAACAGCAGCAGCAACAGGGAGCAGGGCCAGGAATAGGCCCTGGAATGGCCAACCATAACCAGTTCCAGCAACCCCAAGGAGTTGGCTACCCACCACAGCAGCAGCAGCGGATGCAGCATCACATGCAACAGATGCAACAAGGAAATATGGGACAGATAGGCCAGCTTCCCCAGGCCTTGGGAGCAGAGGCAGGTGCCAGTCTACAGGCCTATCAGCAGCGACTCCTTCAGCAACAGATGGGGTCCCCTGTTCAGCCCAACCCCATGAGCCCCCAGCAGCATATGCTCCCAAATCAGGCCCAGTCCCCACACCTACAAGGCCAGCAGATCCCTAATTCTCTCTCCAATCAAGTGCGCTCTCCCCAGCCTGTCCCTTCTCCACGGCCACAGTCCCAGCCCCCCCACTCCAGTCCTTCCCCAAGGATGCAGCCTCAGCCTTCTCCACACCACGTTTCCCCACAGACAAGTTCCCCACATCCTGGACTGGTAGCTGCCCAGGCCAACCCCATGGAACAAGGGCATTTTGCCAGCCCGGACCAGAATTCAATGCTTTCTCAGCTTGCTAGCAATCCAGGCATGGCAAACCTCCATGGTGCAAGCGCCACGGACCTGGGACTCAGCACCGATAACTCAGACTTGAATTCAAACCTCTCACAGAGTACACTAGACATACACTAGAGACACCTTGTAGTATTTTGGGAGCAAAAAAATTATTTTCTCTTAACAAGACTTTTTGTACTGAAAACAATTTTTTTGAATCTTTCGTAGCCTAAAAGACAATTTTCCTTGGAACACATAAGAACTGTGCAGTAGCCGTTTGTGGTTTAAAGCAAACATGCAAGATGAACCTGAGGGATGATAGAATACAAAGAATATATTTTTGTTATGGCTGGTTACCACCAGCCTTTCTTCCCCTTTGTGTGTGTGGTTCAAGTGTGCACTGGGAGGAGGCTGAGGCCTGTGAAGCCAAACAATATGCTCCTGCCTTGCACCTCCAATAGGTTTTATTATTTTTTTTAAATTAATGAACATATGTAATATTAATAGTTATTATTTACTGGTGCAGATGGTTGACATTTTTCCCTATTTTCCTCACTTTATGGAAGAGTTAAAACATTTCTAAACCAGAGGACAAAAGGGGTTAATGTTACTTTAAAATTACATTCTATATATATATAAATATATATAAATATATATTAAAATACCAGTTTTTTTTCTCTGGGTGCAAAGATGTTCATTCTTTTAAAAAATGTTTAAAAAAAAAAAAAAACTGCCTTTCTTCCCCTCAAGTCAACTTTTGTGCTCCAGAAAATTTTCTATTCTGTAAGTCTGAGCGTAAAACTTCAAGTATTAAAATAATTTGTACATGTAGAGAGAAAAATGACTTTTTCAAAAATATACAGGGGCAGCTGCCAAATTGATGTATTATATATTGTGGTTTCTGTTTCTTGAAAGAATTTTTTTCGTTATTTTTACATCTAACAAAGTAAAAAAATTAAAAAGAGGGTAAGAAACGATTCCGGTGGGATGATTTTAACATGCAAAATGTCCCTGGGGGTTTCTTCTTTGCTTGCTTTCTTCCTCCTTACCCTACCCCCCACTCACACACACACACACACACACACACACACACACACACACACACTTTCTATAAAACTTGAAAATAGCAAAAACCCTCAACTGTTGTAAATCATGCAATTAAAGTTGATTACTTATAAATATGAACTTTGGATCACTGTATAGACTGTTAAATTTGATTTCTTATTACCTATTGTTAAATAAACTGTGTGAGACAGACACCCTGACTTTGTTTCACTTGATAACACATCTTTGTCTTGGAGTACACCCGTTTTAAGTGCCTAATGCTTAGGATTCAGAGGAAAAAGTGAAAGCATTAGCTTATAGCCTCTTTAATCTACTACGTATAATGTATTCACAAGTAGATCTTGGTGAATTTATCCAAAGTTCTGGGAAAAAGTACTGCAGGTACCAGCTAACAGTCAAGGTGGAAGTGATAACCTACTTAACACCTTGATACAGGACCCCTTAAGGATGACCTCATGGTCTTCCAATCACCTTCATCTTACAGGGATGAGAAGGAGGACCTAAGAAGACGGATCATATCTGCCTAAGTCCCAAGTAACTTCTTGGAAAAAACAAGACTTGCCAGGCATGGTGGCTCACGCCTATAATCCCAACATTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCCCATCTCTACTAAAAATCAGCAGGGCGTGGTGGTGGGCACCTGCCGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCAGATCCTGGTGGAGGTTGCAGTTAGCCAGGATCTCACCACTGCACTCCAAAGACTCCGTCTTTTAAAAACAGAGAAGATGAAGCTAGGGGA
|
GGGCTTGGCCTCGTGTTTGAGGGGCAGAGCTGAAGAGGCTAGTTTTTGTTCTACGAAAGGGGCTTTTCTAGCCCAAACAATATCTAAAATACTTTTGAATGACTTAAATCTTGGAGAGTTTACGTGCACCTCCTGTTTTTTCCCTAGGATTATGACTTGTGTATCACCTGCTATAACACTAAAAACCATGACCACAAAATGGAGAAACTAGGCCTTGGCTTAGATGATGAGAGCAACAACCAGCAGGCTGCAGCCACCCAGAGCCCAGGCGATTCTCGCCGCCTGAGTATCCAGCGCTGCATCCAGTCTCTGGTCCATGCTTGCCAGTGTCGGAATGCCAATTGCTCACTGCCATCCTGCCAGAAGATGAAGCGGGTTGTGCAGCATACCAAGGGTTGCAAACGGAAAACCAATGGCGGGTGCCCCATCTGCAAGCAGCTCATTGCCCTCTGCTGCTACCATGCCAAGCACTGCCAGGAGAACAAATGCCCGGTGCCGTTCTGCCTAAACATCAAGCAGAAGCTCCGGCAGCAACAGCTGCAGCACCGACTACAGCAGGCCCAAATGCTTCGCAGGAGGATGGCCAGCATGCAGCGGACTGGTGTGGTTGGGCAGCAACAGGGCCTCCCTTCCCCCACTCCTGCCACTCCAACGACACCAACTGGCCAACAGCCAACCACCCCGCAGACGCCCCAGCCCACTTCTCAGCCTCAGCCTACCCCTCCCAATAGCATGCCACCCTACTTGCCCAGGACTCAAGCTGCTGGCCCTGTGTCCCAGGGTAAGGCAGCAGGCCAGGTGACCCCTCCAACCCCTCCTCAGACTGCTCAGCCACCCCTTCCAGGGCCCCCACCTGCAGCAGTGGAAATGGCAATGCAGATTCAGAGAGCAGCGGAGACGCAGCGCCAGATGGCCCACGTGCAAATTTTTCAAAGGCCAATCCAACACCAGATGCCCCCGATGACTCCCATGGCCCCCATGGGTATGAACCCACCTCCCATGACCAGAGGTCCCAGTGGGCATTTGGAGCCAGGGATGGGACCGACAGGGATGCAGCAACAGCCACCCTGGAGCCAAGGAGGATTGCCTCAGCCCCAGCAACTACAGTCTGGGATGCCAAGGCCAGCCATGATGTCAGTGGCCCAGCATGGTCAACCTTTGAACATGGCTCCACAACCAGGATTGGGCCAGGTAGGTATCAGCCCACTCAAACCAGGCACTGTGTCTCAACAAGCCTTACAAAACCTTTTGCGGACTCTCAGGTCTCCCAGCTCTCCCCTGCAGCAGCAACAGGTGCTTAGTATCCTTCACGCCAACCCCCAGCTGTTGGCTGCATTCATCAAGCAGCGGGCTGCCAAGTATGCCAACTCTAATCCACAACCCATCCCTGGGCAGCCTGGCATGCCCCAGGGGCAGCCAGGGCTACAGCCACCTACCATGCCAGGTCAGCAGGGGGTCCACTCCAATCCAGCCATGCAGAACATGAATCCAATGCAGGCGGGCGTTCAGAGGGCTGGCCTGCCCCAGCAGCAACCACAGCAGCAACTCCAGCCACCCATGGGAGGGATGAGCCCCCAGGCTCAGCAGATGAACATGAACCACAACACCATGCCTTCACAATTCCGAGACATCTTGAGACGACAGCAAATGATGCAACAGCAGCAGCAACAGGGAGCAGGGCCAGGAATAGGCCCTGGAATGGCCAACCATAACCAGTTCCAGCAACCCCAAGGAGTTGGCTACCCACCACAGCAGCAGCAGCGGATGCAGCATCACATGCAACAGATGCAACAAGGAAATATGGGACAGATAGGCCAGCTTCCCCAGGCCTTGGGAGCAGAGGCAGGTGCCAGTCTACAGGCCTATCAGCAGCGACTCCTTCAGCAACAGATGGGGTCCCCTGTTCAGCCCAACCCCATGAGCCCCCAGCAGCATATGCTCCCAAATCAGGCCCAGTCCCCACACCTACAAGGCCAGCAGATCCCTAATTCTCTCTCCAATCAAGTGCGCTCTCCCCAGCCTGTCCCTTCTCCACGGCCACAGTCCCAGCCCCCCCCACTCCAGTCCTTCCCCAAGGATGCAGCCTCAGCCTTCTCCACACCACGTTTCCCCACAGACAAGTTCCCCACATCCTGGACTGGTAGCTGCCCAGGCCAACCCCATGGAACAAGGGCATTTTGCCAGCCCGGACCAGAATTCAATGCTTTCTCAGCTTGCTAGCAATCCAGGCATGGCAAACCTCCATGGTGCAAGCGCCACGGACCTGGGACTCAGCACCGATAACTCAGACTTGAATTCAAACCTCTCACAGAGTACACTAGACATACACTAGAGACACCTTGTAGTATTTTGGGAGCAAAAAAATTATTTTCTCTTAACAAGACTTTTTGTACTGAAAACAATTTTTTTGAATCTTTCGTAGCCTAAAAGACAATTTTCCTTGGAACACATAAGAACTGTGCAGTAGCCGTTTGTGGTTTAAAGCAAACATGCAAGATGAACCTGAGGGATGATAGAATACAAAGAATATATTTTTGTTATGGCTGGTTACCACCAGCCTTTCTTCCCCTTTGTGTGTGTGGTTCAAGTGTGCACTGGGAGGAGGCTGAGGCCTGTGAAGCCAAACAATATGCTCCTGCCTTGCACCTCCAATAGGTTTTATTATTTTTTTTAAATTAATGAACATATGTAATATTAATAGTTATTATTTACTGGTGCAGATGGTTGACATTTTTCCCTATTTTCCTCACTTTATGGAAGAGTTAAAACATTTCTAAACCAGAGGACAAAAGGGGTTAATGTTACTTTAAAATTACATTCTATATATATATAAATATATATAAATATATATTAAAATACCAGTTTTTTTTCTCTGGGTGCAAAGATGTTCATTCTTTTAAAAAATGTTTAAAAAAAAAAAAAAACTGCCTTTCTTCCCCTCAAGTCAACTTTTGTGCTCCAGAAAATTTTCTATTCTGTAAGTCTGAGCGTAAAACTTCAAGTATTAAAATAATTTGTACATGTAGAGAGAAAAATGACTTTTTCAAAAATATACAGGGGCAGCTGCCAAATTGATGTATTATATATTGTGGTTTCTGTTTCTTGAAAGAATTTTTTTCGTTATTTTTACATCTAACAAAGTAAAAAAATTAAAAAGAGGGTAAGAAACGATTCCGGTGGGATGATTTTAACATGCAAAATGTCCCTGGGGGTTTCTTCTTTGCTTGCTTTCTTCCTCCTTACCCTACCCCCCACTCACACACACACACACACACACACACACACACACACACACACACTTTCTATAAAACTTGAAAATAGCAAAAACCCTCAACTGTTGTAAATCATGCAATTAAAGTTGATTACTTATAAATATGAACTTTGGATCACTGTATAGACTGTTAAATTTGATTTCTTATTACCTATTGTTAAATAAACTGTGTGAGACAGACACCCTGACTTTGTTTCACTTGATAACACATCTTTGTCTTGGAGTACACCCGTTTTAAGTGCCTAATGCTTAGGATTCAGAGGAAAAAGTGAAAGCATTAGCTTATAGCCTCTTTAATCTACTACGTATAATGTATTCACAAGTAGATCTTGGTGAATTTATCCAAAGTTCTGGGAAAAAGTACTGCAGGTACCAGCTAACAGTCAAGGTGGAAGTGATAACCTACTTAACACCTTGATACAGGACCCCTTAAGGATGACCTCATGGTCTTCCAATCACCTTCATCTTACAGGGATGAGAAGGAGGACCTAAGAAGACGGATCATATCTGCCTAAGTCCCAAGTAACTTCTTGGAAAAAACAAGACTTGCCAGGCATGGTGGCTCACGCCTATAATCCCAACATTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCCCATCTCTACTAAAAATCAGCAGGGCGTGGTGGTGGGCACCTGCCGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCAGATCCTGGTGGAGGTTGCAGTTAGCCAGGATCTCACCACTGCACTCCAAAGACTCCGTCTTTTAAAAACAGAGAAGATGAAGCTAGGGG
|
pathogenic
| 327,614 |
For chromosome 22, position 41178965, gene EP300 (E1A binding protein p300): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
benign
|
CAGCGCTGCATCCAGTCTCTGGTCCATGCTTGCCAGTGTCGGAATGCCAATTGCTCACTGCCATCCTGCCAGAAGATGAAGCGGGTTGTGCAGCATACCAAGGGTTGCAAACGGAAAACCAATGGCGGGTGCCCCATCTGCAAGCAGCTCATTGCCCTCTGCTGCTACCATGCCAAGCACTGCCAGGAGAACAAATGCCCGGTGCCGTTCTGCCTAAACATCAAGCAGAAGCTCCGGCAGCAACAGCTGCAGCACCGACTACAGCAGGCCCAAATGCTTCGCAGGAGGATGGCCAGCATGCAGCGGACTGGTGTGGTTGGGCAGCAACAGGGCCTCCCTTCCCCCACTCCTGCCACTCCAACGACACCAACTGGCCAACAGCCAACCACCCCGCAGACGCCCCAGCCCACTTCTCAGCCTCAGCCTACCCCTCCCAATAGCATGCCACCCTACTTGCCCAGGACTCAAGCTGCTGGCCCTGTGTCCCAGGGTAAGGCAGCAGGCCAGGTGACCCCTCCAACCCCTCCTCAGACTGCTCAGCCACCCCTTCCAGGGCCCCCACCTGCAGCAGTGGAAATGGCAATGCAGATTCAGAGAGCAGCGGAGACGCAGCGCCAGATGGCCCACGTGCAAATTTTTCAAAGGCCAATCCAACACCAGATGCCCCCGATGACTCCCATGGCCCCCATGGGTATGAACCCACCTCCCATGACCAGAGGTCCCAGTGGGCATTTGGAGCCAGGGATGGGACCGACAGGGATGCAGCAACAGCCACCCTGGAGCCAAGGAGGATTGCCTCAGCCCCAGCAACTACAGTCTGGGATGCCAAGGCCAGCCATGATGTCAGTGGCCCAGCATGGTCAACCTTTGAACATGGCTCCACAACCAGGATTGGGCCAGGTAGGTATCAGCCCACTCAAACCAGGCACTGTGTCTCAACAAGCCTTACAAAACCTTTTGCGGACTCTCAGGTCTCCCAGCTCTCCCCTGCAGCAGCAACAGGTGCTTAGTATCCTTCACGCCAACCCCCAGCTGTTGGCTGCATTCATCAAGCAGCGGGCTGCCAAGTATGCCAACTCTAATCCACAACCCATCCCTGGGCAGCCTGGCATGCCCCAGGGGCAGCCAGGGCTACAGCCACCTACCATGCCAGGTCAGCAGGGGGTCCACTCCAATCCAGCCATGCAGAACATGAATCCAATGCAGGCGGGCGTTCAGAGGGCTGGCCTGCCCCAGCAGCAACCACAGCAGCAACTCCAGCCACCCATGGGAGGGATGAGCCCCCAGGCTCAGCAGATGAACATGAACCACAACACCATGCCTTCACAATTCCGAGACATCTTGAGACGACAGCAAATGATGCAACAGCAGCAGCAACAGGGAGCAGGGCCAGGAATAGGCCCTGGAATGGCCAACCATAACCAGTTCCAGCAACCCCAAGGAGTTGGCTACCCACCACAGCAGCAGCAGCGGATGCAGCATCACATGCAACAGATGCAACAAGGAAATATGGGACAGATAGGCCAGCTTCCCCAGGCCTTGGGAGCAGAGGCAGGTGCCAGTCTACAGGCCTATCAGCAGCGACTCCTTCAGCAACAGATGGGGTCCCCTGTTCAGCCCAACCCCATGAGCCCCCAGCAGCATATGCTCCCAAATCAGGCCCAGTCCCCACACCTACAAGGCCAGCAGATCCCTAATTCTCTCTCCAATCAAGTGCGCTCTCCCCAGCCTGTCCCTTCTCCACGGCCACAGTCCCAGCCCCCCCACTCCAGTCCTTCCCCAAGGATGCAGCCTCAGCCTTCTCCACACCACGTTTCCCCACAGACAAGTTCCCCACATCCTGGACTGGTAGCTGCCCAGGCCAACCCCATGGAACAAGGGCATTTTGCCAGCCCGGACCAGAATTCAATGCTTTCTCAGCTTGCTAGCAATCCAGGCATGGCAAACCTCCATGGTGCAAGCGCCACGGACCTGGGACTCAGCACCGATAACTCAGACTTGAATTCAAACCTCTCACAGAGTACACTAGACATACACTAGAGACACCTTGTAGTATTTTGGGAGCAAAAAAATTATTTTCTCTTAACAAGACTTTTTGTACTGAAAACAATTTTTTTGAATCTTTCGTAGCCTAAAAGACAATTTTCCTTGGAACACATAAGAACTGTGCAGTAGCCGTTTGTGGTTTAAAGCAAACATGCAAGATGAACCTGAGGGATGATAGAATACAAAGAATATATTTTTGTTATGGCTGGTTACCACCAGCCTTTCTTCCCCTTTGTGTGTGTGGTTCAAGTGTGCACTGGGAGGAGGCTGAGGCCTGTGAAGCCAAACAATATGCTCCTGCCTTGCACCTCCAATAGGTTTTATTATTTTTTTTAAATTAATGAACATATGTAATATTAATAGTTATTATTTACTGGTGCAGATGGTTGACATTTTTCCCTATTTTCCTCACTTTATGGAAGAGTTAAAACATTTCTAAACCAGAGGACAAAAGGGGTTAATGTTACTTTAAAATTACATTCTATATATATATAAATATATATAAATATATATTAAAATACCAGTTTTTTTTCTCTGGGTGCAAAGATGTTCATTCTTTTAAAAAATGTTTAAAAAAAAAAAAAAACTGCCTTTCTTCCCCTCAAGTCAACTTTTGTGCTCCAGAAAATTTTCTATTCTGTAAGTCTGAGCGTAAAACTTCAAGTATTAAAATAATTTGTACATGTAGAGAGAAAAATGACTTTTTCAAAAATATACAGGGGCAGCTGCCAAATTGATGTATTATATATTGTGGTTTCTGTTTCTTGAAAGAATTTTTTTCGTTATTTTTACATCTAACAAAGTAAAAAAATTAAAAAGAGGGTAAGAAACGATTCCGGTGGGATGATTTTAACATGCAAAATGTCCCTGGGGGTTTCTTCTTTGCTTGCTTTCTTCCTCCTTACCCTACCCCCCACTCACACACACACACACACACACACACACACACACACACACACACTTTCTATAAAACTTGAAAATAGCAAAAACCCTCAACTGTTGTAAATCATGCAATTAAAGTTGATTACTTATAAATATGAACTTTGGATCACTGTATAGACTGTTAAATTTGATTTCTTATTACCTATTGTTAAATAAACTGTGTGAGACAGACACCCTGACTTTGTTTCACTTGATAACACATCTTTGTCTTGGAGTACACCCGTTTTAAGTGCCTAATGCTTAGGATTCAGAGGAAAAAGTGAAAGCATTAGCTTATAGCCTCTTTAATCTACTACGTATAATGTATTCACAAGTAGATCTTGGTGAATTTATCCAAAGTTCTGGGAAAAAGTACTGCAGGTACCAGCTAACAGTCAAGGTGGAAGTGATAACCTACTTAACACCTTGATACAGGACCCCTTAAGGATGACCTCATGGTCTTCCAATCACCTTCATCTTACAGGGATGAGAAGGAGGACCTAAGAAGACGGATCATATCTGCCTAAGTCCCAAGTAACTTCTTGGAAAAAACAAGACTTGCCAGGCATGGTGGCTCACGCCTATAATCCCAACATTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCCCATCTCTACTAAAAATCAGCAGGGCGTGGTGGTGGGCACCTGCCGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCAGATCCTGGTGGAGGTTGCAGTTAGCCAGGATCTCACCACTGCACTCCAAAGACTCCGTCTTTTAAAAACAGAGAAGATGAAGCTAGGGGAACACTCCTGTTTGCTAACTGAATACAAAGAAGTCAGTTGGAATCGGGTTGAAGGGAAGGAAAATGTGTGGAAATAAAACCTAGAAGGCTGAGAGAGATTACACATGAGTCCAGTAATATGCTAGATGCTCAAAGAATGGAGAGATTATTGATCCTCCATCTGAACATTGCAGTAGCTGTGAACAAGTTGTTAAAACAAATGTGTTAGTACACTAAAAAGTACTGAGCTGCTTTGGTATCAATTCCAGATCTTTCTTTTATCACAGAGATTTACACTAACCATATATGACTG
|
CAGCGCTGCATCCAGTCTCTGGTCCATGCTTGCCAGTGTCGGAATGCCAATTGCTCACTGCCATCCTGCCAGAAGATGAAGCGGGTTGTGCAGCATACCAAGGGTTGCAAACGGAAAACCAATGGCGGGTGCCCCATCTGCAAGCAGCTCATTGCCCTCTGCTGCTACCATGCCAAGCACTGCCAGGAGAACAAATGCCCGGTGCCGTTCTGCCTAAACATCAAGCAGAAGCTCCGGCAGCAACAGCTGCAGCACCGACTACAGCAGGCCCAAATGCTTCGCAGGAGGATGGCCAGCATGCAGCGGACTGGTGTGGTTGGGCAGCAACAGGGCCTCCCTTCCCCCACTCCTGCCACTCCAACGACACCAACTGGCCAACAGCCAACCACCCCGCAGACGCCCCAGCCCACTTCTCAGCCTCAGCCTACCCCTCCCAATAGCATGCCACCCTACTTGCCCAGGACTCAAGCTGCTGGCCCTGTGTCCCAGGGTAAGGCAGCAGGCCAGGTGACCCCTCCAACCCCTCCTCAGACTGCTCAGCCACCCCTTCCAGGGCCCCCACCTGCAGCAGTGGAAATGGCAATGCAGATTCAGAGAGCAGCGGAGACGCAGCGCCAGATGGCCCACGTGCAAATTTTTCAAAGGCCAATCCAACACCAGATGCCCCCGATGACTCCCATGGCCCCCATGGGTATGAACCCACCTCCCATGACCAGAGGTCCCAGTGGGCATTTGGAGCCAGGGATGGGACCGACAGGGATGCAGCAACAGCCACCCTGGAGCCAAGGAGGATTGCCTCAGCCCCAGCAACTACAGTCTGGGATGCCAAGGCCAGCCATGATGTCAGTGGCCCAGCATGGTCAACCTTTGAACATGGCTCCACAACCAGGATTGGGCCAGGTAGGTATCAGCCCACTCAAACCAGGCACTGTGTCTCAACAAGCCTTACAAAACCTTTTGCGGACTCTCAGGTCTCCCAGCTCTCCCCTGCAGCAGCAACAGGTGCTTAGTATCCTTCACGCCAACCCCCAGCTGTTGGCTGCATTCATCAAGCAGCGGGCTGCCAAGTATGCCAACTCTAATCCACAACCCATCCCTGGGCAGCCTGGCATGCCCCAGGGGCAGCCAGGGCTACAGCCACCTACCATGCCAGGTCAGCAGGGGGTCCACTCCAATCCAGCCATGCAGAACATGAATCCAATGCAGGCGGGCGTTCAGAGGGCTGGCCTGCCCCAGCAGCAACCACAGCAGCAACTCCAGCCACCCATGGGAGGGATGAGCCCCCAGGCTCAGCAGATGAACATGAACCACAACACCATGCCTTCACAATTCCGAGACATCTTGAGACGACAGCAAATGATGCAACAGCAGCAGCAACAGGGAGCAGGGCCAGGAATAGGCCCTGGAATGGCCAACCATAACCAGTTCCAGCAACCCCAAGGAGTTGGCTACCCACCACAGCAGCAGCAGCGGATGCAGCATCACATGCAACAGATGCAACAAGGAAATATGGGACAGATAGGCCAGCTTCCCCAGGCCTTGGGAGCAGAGGCAGGTGCCAGTCTACAGGCCTATCAGCAGCGACTCCTTCAGCAACAGATGGGGTCCCCTGTTCAGCCCAACCCCATGAGCCCCCAGCAGCATATGCTCCCAAATCAGGCCCAGTCCCCACACCTACAAGGCCAGCAGATCCCTAATTCTCTCTCCAATCAAGTGCGCTCTCCCCAGCCTGTCCCTTCTCCACGGCCACAGTCCCAGCCCCCCCACTCCAGTCCTTCCCCAAGGATGCAGCCTCAGCCTTCTCCACACCACGTTTCCCCACAGACAAGTTCCCCACATCCTGGACTGGTAGCTGCCCAGGCCAACCCCATGGAACAAGGGCATTTTGCCAGCCCGGACCAGAATTCAATGCTTTCTCAGCTTGCTAGCAATCCAGGCATGGCAAACCTCCATGGTGCAAGCGCCACGGACCTGGGACTCAGCACCGATAACTCAGACTTGAATTCAAACCTCTCACAGAGTACACTAGACATACACTAGAGACACCTTGTATTTTGGGAGCAAAAAAATTATTTTCTCTTAACAAGACTTTTTGTACTGAAAACAATTTTTTTGAATCTTTCGTAGCCTAAAAGACAATTTTCCTTGGAACACATAAGAACTGTGCAGTAGCCGTTTGTGGTTTAAAGCAAACATGCAAGATGAACCTGAGGGATGATAGAATACAAAGAATATATTTTTGTTATGGCTGGTTACCACCAGCCTTTCTTCCCCTTTGTGTGTGTGGTTCAAGTGTGCACTGGGAGGAGGCTGAGGCCTGTGAAGCCAAACAATATGCTCCTGCCTTGCACCTCCAATAGGTTTTATTATTTTTTTTAAATTAATGAACATATGTAATATTAATAGTTATTATTTACTGGTGCAGATGGTTGACATTTTTCCCTATTTTCCTCACTTTATGGAAGAGTTAAAACATTTCTAAACCAGAGGACAAAAGGGGTTAATGTTACTTTAAAATTACATTCTATATATATATAAATATATATAAATATATATTAAAATACCAGTTTTTTTTCTCTGGGTGCAAAGATGTTCATTCTTTTAAAAAATGTTTAAAAAAAAAAAAAAACTGCCTTTCTTCCCCTCAAGTCAACTTTTGTGCTCCAGAAAATTTTCTATTCTGTAAGTCTGAGCGTAAAACTTCAAGTATTAAAATAATTTGTACATGTAGAGAGAAAAATGACTTTTTCAAAAATATACAGGGGCAGCTGCCAAATTGATGTATTATATATTGTGGTTTCTGTTTCTTGAAAGAATTTTTTTCGTTATTTTTACATCTAACAAAGTAAAAAAATTAAAAAGAGGGTAAGAAACGATTCCGGTGGGATGATTTTAACATGCAAAATGTCCCTGGGGGTTTCTTCTTTGCTTGCTTTCTTCCTCCTTACCCTACCCCCCACTCACACACACACACACACACACACACACACACACACACACACACTTTCTATAAAACTTGAAAATAGCAAAAACCCTCAACTGTTGTAAATCATGCAATTAAAGTTGATTACTTATAAATATGAACTTTGGATCACTGTATAGACTGTTAAATTTGATTTCTTATTACCTATTGTTAAATAAACTGTGTGAGACAGACACCCTGACTTTGTTTCACTTGATAACACATCTTTGTCTTGGAGTACACCCGTTTTAAGTGCCTAATGCTTAGGATTCAGAGGAAAAAGTGAAAGCATTAGCTTATAGCCTCTTTAATCTACTACGTATAATGTATTCACAAGTAGATCTTGGTGAATTTATCCAAAGTTCTGGGAAAAAGTACTGCAGGTACCAGCTAACAGTCAAGGTGGAAGTGATAACCTACTTAACACCTTGATACAGGACCCCTTAAGGATGACCTCATGGTCTTCCAATCACCTTCATCTTACAGGGATGAGAAGGAGGACCTAAGAAGACGGATCATATCTGCCTAAGTCCCAAGTAACTTCTTGGAAAAAACAAGACTTGCCAGGCATGGTGGCTCACGCCTATAATCCCAACATTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCCCATCTCTACTAAAAATCAGCAGGGCGTGGTGGTGGGCACCTGCCGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCAGATCCTGGTGGAGGTTGCAGTTAGCCAGGATCTCACCACTGCACTCCAAAGACTCCGTCTTTTAAAAACAGAGAAGATGAAGCTAGGGGAACACTCCTGTTTGCTAACTGAATACAAAGAAGTCAGTTGGAATCGGGTTGAAGGGAAGGAAAATGTGTGGAAATAAAACCTAGAAGGCTGAGAGAGATTACACATGAGTCCAGTAATATGCTAGATGCTCAAAGAATGGAGAGATTATTGATCCTCCATCTGAACATTGCAGTAGCTGTGAACAAGTTGTTAAAACAAATGTGTTAGTACACTAAAAAGTACTGAGCTGCTTTGGTATCAATTCCAGATCTTTCTTTTATCACAGAGATTTACACTAACCATATATGACTGNNN
|
benign
| 327,626 |
Subsets and Splits
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