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
|
|---|---|---|---|---|---|
Variant in GNAS (GNAS complex locus), chromosome 20, position 58903701—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['ACTH-independent_macronodular_adrenal_hyperplasia_1', 'GNAS-related_disorder', 'McCune-Albright_syndrome', 'Pituitary_adenoma_3,_multiple_types', 'Progressive_osseous_heteroplasia', 'Pseudohypoparathyroidism_type_1B', 'Pseudohypoparathyroidism_type_1C', 'Pseudohypoparathyroidism_type_I_A', 'Pseudopseudohypoparathyroidism']
|
ACCTGTGAAAGGGGCTTCACGTAGGAAGGGGGCGAGATGGGATCCTTCAGCAGGTGAAGGCCCAGAAGTACACAGACATTTATTCAGAAAGAATAAATTTGTAAGTATAATTCTTTGAGAAAGGAAAGACCAAATGATTTGTGGAAGGCCTGTCGACAGGCCCGCACTTGACCCCACCGTCCGTCCCCGCCCCCCACCCCTGCTGCTCCACTGACTGCCCTGCCCTGCTCGTCTGCTCGTCTGCTCTTGCTAATTAACCTCCCTTCGCCTTTCCTCTGCCTTAACTGTCGTGTTCTAGTCTGGAGAGATTATATGTTTTAATTTCTACTCCAGTCTATGAATTGGTGAATCAGCCAAGTGAATGCTTCAAAAACTGGGACTCTCAAAAGATTAAAAAATATATATATACAAACCGTGAAAAAGATAAACTCTGTCCCCTCCATCTCCCATTGGTTTCTGCCTCGGTGACTCCCCCCCTCTTGGCCTCAGTTTCCCTGTCAGAGAGGCAGGACCGTAGCACCTTTTTTCCGCATGACAACGCCCTCACCTCCCAGGGCCTAACAGGTACAGCAGGTGTGCTGTGTGTGCTGGTTCCATTTTTGGGCTATAGACCTGATGAGATACATACTCCACACAAGAGGCCTTTTCTTGCCCTCTAAAAACATAAACTCGAGAACCTTCCCTGGCTGTGCTTCTAATGAAGGCTAGTTTCTGAAAAACATACAGCATTTGGATCAGTGTAATGTGGTACAAAAATTAACATTCTGTTATGGTCCCCAGAAGCCAAAGGGTGTGTCCTTTACCTGTGGGACCAGTGACCCTGAATATAGATCATTCCATAAAGACCACGCAGGCCATCCCATGTGGCTGAGTTAAACTCAAGGAAAAGCTACAAAACCTTCAACCTCTACTTACCAGAGGGATCTGACCTCCCCTCCCCCTTAGATTATAAGGCCTTCTAGGGGGTGGAATCTTATTTGATTCCTATTGCACATGGACCAACATGCACTAACATCATGAACTAGAAGTTTCATTGCTGCTAGCTGCAGTGCCTGGAGCATCGCACATACGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGACAGAGTCTCACTCTCGCCCTGGCTGGAGTGCAGTGGTGCCATCTCAGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCAGCTAGTTTTTTTGTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTCTCCAACTCCTGACCTCAGGCAGTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGGCTCCTGTAATGAACTATTATAAACACCACCACCTGTGCTCACTGGTTCTCTCAGTATGCTAGCAACTGAGTTAATTCCAAGTCAAACCATGGGACTGTTTTGTTCCACCCCAACCTCATAGTGACCTATCACTCCAGCCTCACCCCTACCCAGATGTTGATAGGACCAGGAGAAGCCTTTAGGAAGTGTTAGTATGTAGTGTGGGGGCTTCAAACCCATGAAAGATTAAATGAGCTGCATGCAACTTCTGGTACAGTCATGATTGCTAAGGCAATTTGCTAATCTGCCCCGATTGGGCGTGTCCTCAGGGCACATTTGGGAGGTTATAATTTGCAACTATGTTTATTCAGCTACCTCCAATCTTTGCACAGATCCGAACCCACAACTCCCTGAAGAACAGAATACTATGCTTTTTAGTCGGGATGTCTTTATGAAAGCAGTACTCCTAACTGACATGGTGCAATATGATTTTCTTTTCTTTTCAATCCCACTGCAGTGAGAAGGCAACCAAAGTGCAGGACATCAAAAACAACCTGAAAGAGGCGATTGAAGTACGTGCTGGCTCCTTGTGCTGTCTGTCTTGTAGCGCCCTCCCAGCCAGTGCTGTTCCCTGACCGCTTTGCTAAATCATTTTCAGACCATTGTGGCCGCCATGAGCAACCTGGTGCCCCCCGTGGAGCTGGCCAACCCCGAGAACCAGTTCAGAGTGGACTACATCCTGAGTGTGATGAACGTGCCTGACTTTGACTTCCCTCCCGTAAGCTACACCCCGACTTGTGTGGCCTTAGCCCCGCCCACCTGAGCACAGTGTCCATATAGGAACATGAGTGACAGCCCTGCACATGGGCAGGAGCATCCAAACCACACTTCAGGCAAAACTACATTTCAGTGATGTCCATCCTTAGGAAAAAGTTAATTTCATGTGTAACCTTAATTTAATAATAATAATCATTAGGGCTTTGTTCAAGATGGATGAGCAAAATTCTGTCACCCCTTCTACATCTTAGCTCACCTGTCCTCACAAATAAACATCACTCTTGAATACTACAATCTCACTTTATTAGATTGTAAATTTTTATGAGGAAAAAGGTCCTGAGCTATGGCAGGCTTAATTATTCCCTCATTCACATCTTAGGACAAAACTGTATGTTAAATATGGCACACAAATACTAATTGTCCATTTACTCCACTGGAAGTGCCCTAAGGTACCTTGGGATGCCTCAGTGAAGTGCCAAATGGAAGACATTCTCATTTTAAACAGGTGACCTTTTTATTAAGAGTTTTCTAAAGTCCTTGGGGCAAATGAAATCTTTTCTCATTATTAAAAAAAATGAAATATATCTAAATCATAACTCAAAAATCATAAAATAGAACATATGGAAAAGACTTTCCTCTGGATGCACGACACTGTTGGCTCCCTAAAGAACTACTTTTAGGGAACAAAAAACTGTTCAAGCCCAAGCATATAAGTTTAGGCCCCTTCGTGGGGAGAATGGCTTATAAGCGGGGAACGGGAAACGAGATGGAAAGATGTATGCGTTTGTAAGACCCACAGGGAAGAGACTTGTCTACAGCTAAAACAATGAGTTATTGTTGCCTTTTGTCAGGCTTTCGTGGGAATTTGTGTTTGTATATTTTAGATGGACTTGGCTGCAAACTTAAATTGGAGAAATTTAGTGGTATATAGTTAGTATGGATAGCTAAACTTTTTAAATAGCATTATTTTGAAAAAAAAGCAATAAACACAATATGTATAATATAACCCACTGACTTTCTTGAAATATGATTCTATATTTAATAGGAAAAGGAAACAGCAGCCTATTAAAAATGTATCAGAACAATAACTTTTTATTAGTCCTACTAACATCTGAACTTTTATGTTCCTACCTACAAGTCCCCCATCATCATTTTTTTTGGTAAGATTCACATTTTCCCAGGAGGAAAATTTAGTCCCAGCACATCTTACAAATGAAGTTTCTTATTTTCACAACATTGAACCATTTATTGGCATATTCTAACACATTTAGTGTATATTCTTCCTAAACAATTCTGTGAAGAAACTAAATTACTCAGTAGCTTACCCCATTCCCCCTACACACGAGAAAAGAAACTACCCAAAACCAGTAATTCACAATAAGACCCAGCAGCTAATTGCGTGAACTTTTGAATATGTTTAACGTGTTGAATTAAAGTTCTTTGTGAGCATTAATTCATTAATTGGGCTCAAAATTCAAAATCACACCAAGTGTCGGTCACATAGGGAACTCTGGTCTCAGGGTTTGAATGACAGTGTTGTTGATTAGTTCAAGCTCTTGCCTTTCTCTAAACTTTCTTGTGTTCACTTTCAGGAATTCTATGAGCATGCCAAGGCTCTGTGGGAGGATGAAGGAGTGCGTGCCTGCTACGAACGCTCCAACGAGTACCAGCTGATTGACTGTGCCCAGTAGTAAGTAACCGCCACCCAACCCATCAGCACATAAAACAGACAAAAACAAGAAAACATGAAAACCTGTGATCCTGCTTTGAAAGTTACTTGTTGATGATTCCTTTCTTAGAAGCCAACCAGTTACCCCACTGGCAGAAAGTTCTAATCTGATTCAATTGTTTATTTATAAAGTCCTTAATTGCATTTTTTTTCTTTTAGTGCAGCGACATTATTTTACATAAACATTTAAAGCCTGTTAGAGCAAAATGATGATGAGTTTCATAGTATT
|
ACCTGTGAAAGGGGCTTCACGTAGGAAGGGGGCGAGATGGGATCCTTCAGCAGGTGAAGGCCCAGAAGTACACAGACATTTATTCAGAAAGAATAAATTTGTAAGTATAATTCTTTGAGAAAGGAAAGACCAAATGATTTGTGGAAGGCCTGTCGACAGGCCCGCACTTGACCCCACCGTCCGTCCCCGCCCCCCACCCCTGCTGCTCCACTGACTGCCCTGCCCTGCTCGTCTGCTCGTCTGCTCTTGCTAATTAACCTCCCTTCGCCTTTCCTCTGCCTTAACTGTCGTGTTCTAGTCTGGAGAGATTATATGTTTTAATTTCTACTCCAGTCTATGAATTGGTGAATCAGCCAAGTGAATGCTTCAAAAACTGGGACTCTCAAAAGATTAAAAAATATATATATACAAACCGTGAAAAAGATAAACTCTGTCCCCTCCATCTCCCATTGGTTTCTGCCTCGGTGACTCCCCCCCTCTTGGCCTCAGTTTCCCTGTCAGAGAGGCAGGACCGTAGCACCTTTTTTCCGCATGACAACGCCCTCACCTCCCAGGGCCTAACAGGTACAGCAGGTGTGCTGTGTGTGCTGGTTCCATTTTTGGGCTATAGACCTGATGAGATACATACTCCACACAAGAGGCCTTTTCTTGCCCTCTAAAAACATAAACTCGAGAACCTTCCCTGGCTGTGCTTCTAATGAAGGCTAGTTTCTGAAAAACATACAGCATTTGGATCAGTGTAATGTGGTACAAAAATTAACATTCTGTTATGGTCCCCAGAAGCCAAAGGGTGTGTCCTTTACCTGTGGGACCAGTGACCCTGAATATAGATCATTCCATAAAGACCACGCAGGCCATCCCATGTGGCTGAGTTAAACTCAAGGAAAAGCTACAAAACCTTCAACCTCTACTTACCAGAGGGATCTGACCTCCCCTCCCCCTTAGATTATAAGGCCTTCTAGGGGGTGGAATCTTATTTGATTCCTATTGCACATGGACCAACATGCACTAACATCATGAACTAGAAGTTTCATTGCTGCTAGCTGCAGTGCCTGGAGCATCGCACATACGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGACAGAGTCTCACTCTCGCCCTGGCTGGAGTGCAGTGGTGCCATCTCAGCTTACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGTGCATGCCACCATGCCCAGCTAGTTTTTTTGTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTCTCCAACTCCTGACCTCAGGCAGTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGGCTCCTGTAATGAACTATTATAAACACCACCACCTGTGCTCACTGGTTCTCTCAGTATGCTAGCAACTGAGTTAATTCCAAGTCAAACCATGGGACTGTTTTGTTCCACCCCAACCTCATAGTGACCTATCACTCCAGCCTCACCCCTACCCAGATGTTGATAGGACCAGGAGAAGCCTTTAGGAAGTGTTAGTATGTAGTGTGGGGGCTTCAAACCCATGAAAGATTAAATGAGCTGCATGCAACTTCTGGTACAGTCATGATTGCTAAGGCAATTTGCTAATCTGCCCCGATTGGGCGTGTCCTCAGGGCACATTTGGGAGGTTATAATTTGCAACTATGTTTATTCAGCTACCTCCAATCTTTGCACAGATCCGAACCCACAACTCCCTGAAGAACAGAATACTATGCTTTTTAGTCGGGATGTCTTTATGAAAGCAGTACTCCTAACTGACATGGTGCAATATGATTTTCTTTTCTTTTCAATCCCACTGCAGTGAGAAGGCAACCAAAGTGCAGGACATCAAAAACAACCTGAAAGAGGCGATTGAAGTACGTGCTGGCTCCTTGTGCTGTCTGTCTTGTAGCGCCCTCCCAGCCAGTGCTGTTCCCTGACCGCTTTGCTAAATCATTTTCAGACCATTGTGGCCGCCATGAGCAACCTGGTGCCCCCCCGTGGAGCTGGCCAACCCCGAGAACCAGTTCAGAGTGGACTACATCCTGAGTGTGATGAACGTGCCTGACTTTGACTTCCCTCCCGTAAGCTACACCCCGACTTGTGTGGCCTTAGCCCCGCCCACCTGAGCACAGTGTCCATATAGGAACATGAGTGACAGCCCTGCACATGGGCAGGAGCATCCAAACCACACTTCAGGCAAAACTACATTTCAGTGATGTCCATCCTTAGGAAAAAGTTAATTTCATGTGTAACCTTAATTTAATAATAATAATCATTAGGGCTTTGTTCAAGATGGATGAGCAAAATTCTGTCACCCCTTCTACATCTTAGCTCACCTGTCCTCACAAATAAACATCACTCTTGAATACTACAATCTCACTTTATTAGATTGTAAATTTTTATGAGGAAAAAGGTCCTGAGCTATGGCAGGCTTAATTATTCCCTCATTCACATCTTAGGACAAAACTGTATGTTAAATATGGCACACAAATACTAATTGTCCATTTACTCCACTGGAAGTGCCCTAAGGTACCTTGGGATGCCTCAGTGAAGTGCCAAATGGAAGACATTCTCATTTTAAACAGGTGACCTTTTTATTAAGAGTTTTCTAAAGTCCTTGGGGCAAATGAAATCTTTTCTCATTATTAAAAAAAATGAAATATATCTAAATCATAACTCAAAAATCATAAAATAGAACATATGGAAAAGACTTTCCTCTGGATGCACGACACTGTTGGCTCCCTAAAGAACTACTTTTAGGGAACAAAAAACTGTTCAAGCCCAAGCATATAAGTTTAGGCCCCTTCGTGGGGAGAATGGCTTATAAGCGGGGAACGGGAAACGAGATGGAAAGATGTATGCGTTTGTAAGACCCACAGGGAAGAGACTTGTCTACAGCTAAAACAATGAGTTATTGTTGCCTTTTGTCAGGCTTTCGTGGGAATTTGTGTTTGTATATTTTAGATGGACTTGGCTGCAAACTTAAATTGGAGAAATTTAGTGGTATATAGTTAGTATGGATAGCTAAACTTTTTAAATAGCATTATTTTGAAAAAAAAGCAATAAACACAATATGTATAATATAACCCACTGACTTTCTTGAAATATGATTCTATATTTAATAGGAAAAGGAAACAGCAGCCTATTAAAAATGTATCAGAACAATAACTTTTTATTAGTCCTACTAACATCTGAACTTTTATGTTCCTACCTACAAGTCCCCCATCATCATTTTTTTTGGTAAGATTCACATTTTCCCAGGAGGAAAATTTAGTCCCAGCACATCTTACAAATGAAGTTTCTTATTTTCACAACATTGAACCATTTATTGGCATATTCTAACACATTTAGTGTATATTCTTCCTAAACAATTCTGTGAAGAAACTAAATTACTCAGTAGCTTACCCCATTCCCCCTACACACGAGAAAAGAAACTACCCAAAACCAGTAATTCACAATAAGACCCAGCAGCTAATTGCGTGAACTTTTGAATATGTTTAACGTGTTGAATTAAAGTTCTTTGTGAGCATTAATTCATTAATTGGGCTCAAAATTCAAAATCACACCAAGTGTCGGTCACATAGGGAACTCTGGTCTCAGGGTTTGAATGACAGTGTTGTTGATTAGTTCAAGCTCTTGCCTTTCTCTAAACTTTCTTGTGTTCACTTTCAGGAATTCTATGAGCATGCCAAGGCTCTGTGGGAGGATGAAGGAGTGCGTGCCTGCTACGAACGCTCCAACGAGTACCAGCTGATTGACTGTGCCCAGTAGTAAGTAACCGCCACCCAACCCATCAGCACATAAAACAGACAAAAACAAGAAAACATGAAAACCTGTGATCCTGCTTTGAAAGTTACTTGTTGATGATTCCTTTCTTAGAAGCCAACCAGTTACCCCACTGGCAGAAAGTTCTAATCTGATTCAATTGTTTATTTATAAAGTCCTTAATTGCATTTTTTTTCTTTTAGTGCAGCGACATTATTTTACATAAACATTTAAAGCCTGTTAGAGCAAAATGATGATGAGTTTCATAGTAT
|
pathogenic
| 315,147 |
Considering the genetic mutation at chromosome 20, position 58905394, impacting GNAS (GNAS complex locus): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['ACTH-independent_macronodular_adrenal_hyperplasia_1', 'McCune-Albright_syndrome', 'Pituitary_adenoma_3,_multiple_types', 'Progressive_osseous_heteroplasia', 'Pseudohypoparathyroidism_type_1B', 'Pseudohypoparathyroidism_type_1C', 'Pseudohypoparathyroidism_type_I_A', 'Pseudopseudohypoparathyroidism']
|
ACATTTGGGAGGTTATAATTTGCAACTATGTTTATTCAGCTACCTCCAATCTTTGCACAGATCCGAACCCACAACTCCCTGAAGAACAGAATACTATGCTTTTTAGTCGGGATGTCTTTATGAAAGCAGTACTCCTAACTGACATGGTGCAATATGATTTTCTTTTCTTTTCAATCCCACTGCAGTGAGAAGGCAACCAAAGTGCAGGACATCAAAAACAACCTGAAAGAGGCGATTGAAGTACGTGCTGGCTCCTTGTGCTGTCTGTCTTGTAGCGCCCTCCCAGCCAGTGCTGTTCCCTGACCGCTTTGCTAAATCATTTTCAGACCATTGTGGCCGCCATGAGCAACCTGGTGCCCCCCGTGGAGCTGGCCAACCCCGAGAACCAGTTCAGAGTGGACTACATCCTGAGTGTGATGAACGTGCCTGACTTTGACTTCCCTCCCGTAAGCTACACCCCGACTTGTGTGGCCTTAGCCCCGCCCACCTGAGCACAGTGTCCATATAGGAACATGAGTGACAGCCCTGCACATGGGCAGGAGCATCCAAACCACACTTCAGGCAAAACTACATTTCAGTGATGTCCATCCTTAGGAAAAAGTTAATTTCATGTGTAACCTTAATTTAATAATAATAATCATTAGGGCTTTGTTCAAGATGGATGAGCAAAATTCTGTCACCCCTTCTACATCTTAGCTCACCTGTCCTCACAAATAAACATCACTCTTGAATACTACAATCTCACTTTATTAGATTGTAAATTTTTATGAGGAAAAAGGTCCTGAGCTATGGCAGGCTTAATTATTCCCTCATTCACATCTTAGGACAAAACTGTATGTTAAATATGGCACACAAATACTAATTGTCCATTTACTCCACTGGAAGTGCCCTAAGGTACCTTGGGATGCCTCAGTGAAGTGCCAAATGGAAGACATTCTCATTTTAAACAGGTGACCTTTTTATTAAGAGTTTTCTAAAGTCCTTGGGGCAAATGAAATCTTTTCTCATTATTAAAAAAAATGAAATATATCTAAATCATAACTCAAAAATCATAAAATAGAACATATGGAAAAGACTTTCCTCTGGATGCACGACACTGTTGGCTCCCTAAAGAACTACTTTTAGGGAACAAAAAACTGTTCAAGCCCAAGCATATAAGTTTAGGCCCCTTCGTGGGGAGAATGGCTTATAAGCGGGGAACGGGAAACGAGATGGAAAGATGTATGCGTTTGTAAGACCCACAGGGAAGAGACTTGTCTACAGCTAAAACAATGAGTTATTGTTGCCTTTTGTCAGGCTTTCGTGGGAATTTGTGTTTGTATATTTTAGATGGACTTGGCTGCAAACTTAAATTGGAGAAATTTAGTGGTATATAGTTAGTATGGATAGCTAAACTTTTTAAATAGCATTATTTTGAAAAAAAAGCAATAAACACAATATGTATAATATAACCCACTGACTTTCTTGAAATATGATTCTATATTTAATAGGAAAAGGAAACAGCAGCCTATTAAAAATGTATCAGAACAATAACTTTTTATTAGTCCTACTAACATCTGAACTTTTATGTTCCTACCTACAAGTCCCCCATCATCATTTTTTTTGGTAAGATTCACATTTTCCCAGGAGGAAAATTTAGTCCCAGCACATCTTACAAATGAAGTTTCTTATTTTCACAACATTGAACCATTTATTGGCATATTCTAACACATTTAGTGTATATTCTTCCTAAACAATTCTGTGAAGAAACTAAATTACTCAGTAGCTTACCCCATTCCCCCTACACACGAGAAAAGAAACTACCCAAAACCAGTAATTCACAATAAGACCCAGCAGCTAATTGCGTGAACTTTTGAATATGTTTAACGTGTTGAATTAAAGTTCTTTGTGAGCATTAATTCATTAATTGGGCTCAAAATTCAAAATCACACCAAGTGTCGGTCACATAGGGAACTCTGGTCTCAGGGTTTGAATGACAGTGTTGTTGATTAGTTCAAGCTCTTGCCTTTCTCTAAACTTTCTTGTGTTCACTTTCAGGAATTCTATGAGCATGCCAAGGCTCTGTGGGAGGATGAAGGAGTGCGTGCCTGCTACGAACGCTCCAACGAGTACCAGCTGATTGACTGTGCCCAGTAGTAAGTAACCGCCACCCAACCCATCAGCACATAAAACAGACAAAAACAAGAAAACATGAAAACCTGTGATCCTGCTTTGAAAGTTACTTGTTGATGATTCCTTTCTTAGAAGCCAACCAGTTACCCCACTGGCAGAAAGTTCTAATCTGATTCAATTGTTTATTTATAAAGTCCTTAATTGCATTTTTTTTCTTTTAGTGCAGCGACATTATTTTACATAAACATTTAAAGCCTGTTAGAGCAAAATGATGATGAGTTTCATAGTATTCCTAATTAGTAGGAAGTAATTAATTGAATTGACCCTAAGCATTTAGGGAAATAGGGCTGTGCTCACATTTTGAATAATGTAAAAATACTATATTTTATTGCTGTAATTTTAAAACATAACAAAGAGGAATGGTGAAGACATAGCTACGCCTCCTCTCTCCTTGGTAGTTGTTGATTGATCTATTTCTGCTCTCAGGTAAGCGACTCTAGTAGCTGCCTAGTGTTACTAGATCCTAGTGACTCTAGGTAGAGTTTGTTTTTGTGTTGTCTTGACTTTTGAACTCTATTTCATATCCTTATTTATTCCTTCTCACCGGGTCTTGATTCAAGGATGGTAAGTGGTCAATGGATTTTAAATCCTAAACTGTACACCTAAGCAGTACAATACCGTGGTGGGGTTATTTTCAAATAAAACAAATTACTACCTGCGAGGAGGACAGGTTAAGGCCTGCAGTAGCAATGGGAAAAGCATCTTTCTCCAAAGTCACTCATAAAGGTGGGCTCACCTGGTTGGTGTGTTGGCAAATGAAGAAGGGGGAACTTAAAACACAGACTTTATTGCACAACTCTACCTGATGCCCAGGCTGCTTCCCTTGCTGCCTAACACCTGACTTACCATTGCCTCAGGGATCGCCCTCTGTCCCTGTCACCCACCATGGTCTCTCCCAGAGGACATCGTACCCGATAGCTAGAAAGTTGCCTTTGAAATAGTTTATGGCTTCCCTCATCTTGCACATGATATAGCAAGCATGTGGTGGTCAGGGTTATTTAAAAAATATGTAAACATTATTATTATTTTTTTGAAACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGACCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCGCCACAACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCAAAAATGTAAAGATATCTTCTGTTTGTTGATGCTGCAGAAATGCACAAAGCAGTCTCAGTTAATGATATTCTGAAGTAGGAGTGTCCTGTGACTTGGGGCAGGGGAGTCTAGTAGAGGTTTGATGTTTTAGCCATCCTTATTACAAGTAGCTGAAACTCGGAACTGATTTTGCTATAGGAAGTATTAGCTAATCAGAACCAAGGTGCCAGGCTGACTCACCAAGGGCTAAGATTGCTTTACTTAGTAGCCTCAAGCCCAAGGAACTGATTGTGAAAACCACCTGAATAAACAGGAGGGAGGAAGAGGTAATACTGTTCATCTATAAATCATATAAGCCTCTGTTAGGGTCTGCGCAATCTATCAACCCCAGCCCTGCCTTCCCATAGGAAATTCCTTTATTTTCAATTGCCACATACATAGATATTCCACGGTTTAATATACAAGCAAATGTGTATATTTTTTCAAGGAACAGAAAAAAACAGTCCATCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTG
|
ACATTTGGGAGGTTATAATTTGCAACTATGTTTATTCAGCTACCTCCAATCTTTGCACAGATCCGAACCCACAACTCCCTGAAGAACAGAATACTATGCTTTTTAGTCGGGATGTCTTTATGAAAGCAGTACTCCTAACTGACATGGTGCAATATGATTTTCTTTTCTTTTCAATCCCACTGCAGTGAGAAGGCAACCAAAGTGCAGGACATCAAAAACAACCTGAAAGAGGCGATTGAAGTACGTGCTGGCTCCTTGTGCTGTCTGTCTTGTAGCGCCCTCCCAGCCAGTGCTGTTCCCTGACCGCTTTGCTAAATCATTTTCAGACCATTGTGGCCGCCATGAGCAACCTGGTGCCCCCCGTGGAGCTGGCCAACCCCGAGAACCAGTTCAGAGTGGACTACATCCTGAGTGTGATGAACGTGCCTGACTTTGACTTCCCTCCCGTAAGCTACACCCCGACTTGTGTGGCCTTAGCCCCGCCCACCTGAGCACAGTGTCCATATAGGAACATGAGTGACAGCCCTGCACATGGGCAGGAGCATCCAAACCACACTTCAGGCAAAACTACATTTCAGTGATGTCCATCCTTAGGAAAAAGTTAATTTCATGTGTAACCTTAATTTAATAATAATAATCATTAGGGCTTTGTTCAAGATGGATGAGCAAAATTCTGTCACCCCTTCTACATCTTAGCTCACCTGTCCTCACAAATAAACATCACTCTTGAATACTACAATCTCACTTTATTAGATTGTAAATTTTTATGAGGAAAAAGGTCCTGAGCTATGGCAGGCTTAATTATTCCCTCATTCACATCTTAGGACAAAACTGTATGTTAAATATGGCACACAAATACTAATTGTCCATTTACTCCACTGGAAGTGCCCTAAGGTACCTTGGGATGCCTCAGTGAAGTGCCAAATGGAAGACATTCTCATTTTAAACAGGTGACCTTTTTATTAAGAGTTTTCTAAAGTCCTTGGGGCAAATGAAATCTTTTCTCATTATTAAAAAAAATGAAATATATCTAAATCATAACTCAAAAATCATAAAATAGAACATATGGAAAAGACTTTCCTCTGGATGCACGACACTGTTGGCTCCCTAAAGAACTACTTTTAGGGAACAAAAAACTGTTCAAGCCCAAGCATATAAGTTTAGGCCCCTTCGTGGGGAGAATGGCTTATAAGCGGGGAACGGGAAACGAGATGGAAAGATGTATGCGTTTGTAAGACCCACAGGGAAGAGACTTGTCTACAGCTAAAACAATGAGTTATTGTTGCCTTTTGTCAGGCTTTCGTGGGAATTTGTGTTTGTATATTTTAGATGGACTTGGCTGCAAACTTAAATTGGAGAAATTTAGTGGTATATAGTTAGTATGGATAGCTAAACTTTTTAAATAGCATTATTTTGAAAAAAAAGCAATAAACACAATATGTATAATATAACCCACTGACTTTCTTGAAATATGATTCTATATTTAATAGGAAAAGGAAACAGCAGCCTATTAAAAATGTATCAGAACAATAACTTTTTATTAGTCCTACTAACATCTGAACTTTTATGTTCCTACCTACAAGTCCCCCATCATCATTTTTTTTGGTAAGATTCACATTTTCCCAGGAGGAAAATTTAGTCCCAGCACATCTTACAAATGAAGTTTCTTATTTTCACAACATTGAACCATTTATTGGCATATTCTAACACATTTAGTGTATATTCTTCCTAAACAATTCTGTGAAGAAACTAAATTACTCAGTAGCTTACCCCATTCCCCCTACACACGAGAAAAGAAACTACCCAAAACCAGTAATTCACAATAAGACCCAGCAGCTAATTGCGTGAACTTTTGAATATGTTTAACGTGTTGAATTAAAGTTCTTTGTGAGCATTAATTCATTAATTGGGCTCAAAATTCAAAATCACACCAAGTGTCGGTCACATAGGGAACTCTGGTCTCAGGGTTTGAATGACAGTGTTGTTGATTAGTTCAAGCTCTTGCCTTTCTCTAAACTTTCTTGTGTTCACTTTCAGGAATTCTATGAGTGCCAAGGCTCTGTGGGAGGATGAAGGAGTGCGTGCCTGCTACGAACGCTCCAACGAGTACCAGCTGATTGACTGTGCCCAGTAGTAAGTAACCGCCACCCAACCCATCAGCACATAAAACAGACAAAAACAAGAAAACATGAAAACCTGTGATCCTGCTTTGAAAGTTACTTGTTGATGATTCCTTTCTTAGAAGCCAACCAGTTACCCCACTGGCAGAAAGTTCTAATCTGATTCAATTGTTTATTTATAAAGTCCTTAATTGCATTTTTTTTCTTTTAGTGCAGCGACATTATTTTACATAAACATTTAAAGCCTGTTAGAGCAAAATGATGATGAGTTTCATAGTATTCCTAATTAGTAGGAAGTAATTAATTGAATTGACCCTAAGCATTTAGGGAAATAGGGCTGTGCTCACATTTTGAATAATGTAAAAATACTATATTTTATTGCTGTAATTTTAAAACATAACAAAGAGGAATGGTGAAGACATAGCTACGCCTCCTCTCTCCTTGGTAGTTGTTGATTGATCTATTTCTGCTCTCAGGTAAGCGACTCTAGTAGCTGCCTAGTGTTACTAGATCCTAGTGACTCTAGGTAGAGTTTGTTTTTGTGTTGTCTTGACTTTTGAACTCTATTTCATATCCTTATTTATTCCTTCTCACCGGGTCTTGATTCAAGGATGGTAAGTGGTCAATGGATTTTAAATCCTAAACTGTACACCTAAGCAGTACAATACCGTGGTGGGGTTATTTTCAAATAAAACAAATTACTACCTGCGAGGAGGACAGGTTAAGGCCTGCAGTAGCAATGGGAAAAGCATCTTTCTCCAAAGTCACTCATAAAGGTGGGCTCACCTGGTTGGTGTGTTGGCAAATGAAGAAGGGGGAACTTAAAACACAGACTTTATTGCACAACTCTACCTGATGCCCAGGCTGCTTCCCTTGCTGCCTAACACCTGACTTACCATTGCCTCAGGGATCGCCCTCTGTCCCTGTCACCCACCATGGTCTCTCCCAGAGGACATCGTACCCGATAGCTAGAAAGTTGCCTTTGAAATAGTTTATGGCTTCCCTCATCTTGCACATGATATAGCAAGCATGTGGTGGTCAGGGTTATTTAAAAAATATGTAAACATTATTATTATTTTTTTGAAACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGACCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCGCCACAACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCAAAAATGTAAAGATATCTTCTGTTTGTTGATGCTGCAGAAATGCACAAAGCAGTCTCAGTTAATGATATTCTGAAGTAGGAGTGTCCTGTGACTTGGGGCAGGGGAGTCTAGTAGAGGTTTGATGTTTTAGCCATCCTTATTACAAGTAGCTGAAACTCGGAACTGATTTTGCTATAGGAAGTATTAGCTAATCAGAACCAAGGTGCCAGGCTGACTCACCAAGGGCTAAGATTGCTTTACTTAGTAGCCTCAAGCCCAAGGAACTGATTGTGAAAACCACCTGAATAAACAGGAGGGAGGAAGAGGTAATACTGTTCATCTATAAATCATATAAGCCTCTGTTAGGGTCTGCGCAATCTATCAACCCCAGCCCTGCCTTCCCATAGGAAATTCCTTTATTTTCAATTGCCACATACATAGATATTCCACGGTTTAATATACAAGCAAATGTGTATATTTTTTCAAGGAACAGAAAAAAACAGTCCATCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGNN
|
pathogenic
| 315,159 |
The mutation impacting GNAS (GNAS complex locus) on chromosome 20 at position 58905465: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic
|
CAACTCCCTGAAGAACAGAATACTATGCTTTTTAGTCGGGATGTCTTTATGAAAGCAGTACTCCTAACTGACATGGTGCAATATGATTTTCTTTTCTTTTCAATCCCACTGCAGTGAGAAGGCAACCAAAGTGCAGGACATCAAAAACAACCTGAAAGAGGCGATTGAAGTACGTGCTGGCTCCTTGTGCTGTCTGTCTTGTAGCGCCCTCCCAGCCAGTGCTGTTCCCTGACCGCTTTGCTAAATCATTTTCAGACCATTGTGGCCGCCATGAGCAACCTGGTGCCCCCCGTGGAGCTGGCCAACCCCGAGAACCAGTTCAGAGTGGACTACATCCTGAGTGTGATGAACGTGCCTGACTTTGACTTCCCTCCCGTAAGCTACACCCCGACTTGTGTGGCCTTAGCCCCGCCCACCTGAGCACAGTGTCCATATAGGAACATGAGTGACAGCCCTGCACATGGGCAGGAGCATCCAAACCACACTTCAGGCAAAACTACATTTCAGTGATGTCCATCCTTAGGAAAAAGTTAATTTCATGTGTAACCTTAATTTAATAATAATAATCATTAGGGCTTTGTTCAAGATGGATGAGCAAAATTCTGTCACCCCTTCTACATCTTAGCTCACCTGTCCTCACAAATAAACATCACTCTTGAATACTACAATCTCACTTTATTAGATTGTAAATTTTTATGAGGAAAAAGGTCCTGAGCTATGGCAGGCTTAATTATTCCCTCATTCACATCTTAGGACAAAACTGTATGTTAAATATGGCACACAAATACTAATTGTCCATTTACTCCACTGGAAGTGCCCTAAGGTACCTTGGGATGCCTCAGTGAAGTGCCAAATGGAAGACATTCTCATTTTAAACAGGTGACCTTTTTATTAAGAGTTTTCTAAAGTCCTTGGGGCAAATGAAATCTTTTCTCATTATTAAAAAAAATGAAATATATCTAAATCATAACTCAAAAATCATAAAATAGAACATATGGAAAAGACTTTCCTCTGGATGCACGACACTGTTGGCTCCCTAAAGAACTACTTTTAGGGAACAAAAAACTGTTCAAGCCCAAGCATATAAGTTTAGGCCCCTTCGTGGGGAGAATGGCTTATAAGCGGGGAACGGGAAACGAGATGGAAAGATGTATGCGTTTGTAAGACCCACAGGGAAGAGACTTGTCTACAGCTAAAACAATGAGTTATTGTTGCCTTTTGTCAGGCTTTCGTGGGAATTTGTGTTTGTATATTTTAGATGGACTTGGCTGCAAACTTAAATTGGAGAAATTTAGTGGTATATAGTTAGTATGGATAGCTAAACTTTTTAAATAGCATTATTTTGAAAAAAAAGCAATAAACACAATATGTATAATATAACCCACTGACTTTCTTGAAATATGATTCTATATTTAATAGGAAAAGGAAACAGCAGCCTATTAAAAATGTATCAGAACAATAACTTTTTATTAGTCCTACTAACATCTGAACTTTTATGTTCCTACCTACAAGTCCCCCATCATCATTTTTTTTGGTAAGATTCACATTTTCCCAGGAGGAAAATTTAGTCCCAGCACATCTTACAAATGAAGTTTCTTATTTTCACAACATTGAACCATTTATTGGCATATTCTAACACATTTAGTGTATATTCTTCCTAAACAATTCTGTGAAGAAACTAAATTACTCAGTAGCTTACCCCATTCCCCCTACACACGAGAAAAGAAACTACCCAAAACCAGTAATTCACAATAAGACCCAGCAGCTAATTGCGTGAACTTTTGAATATGTTTAACGTGTTGAATTAAAGTTCTTTGTGAGCATTAATTCATTAATTGGGCTCAAAATTCAAAATCACACCAAGTGTCGGTCACATAGGGAACTCTGGTCTCAGGGTTTGAATGACAGTGTTGTTGATTAGTTCAAGCTCTTGCCTTTCTCTAAACTTTCTTGTGTTCACTTTCAGGAATTCTATGAGCATGCCAAGGCTCTGTGGGAGGATGAAGGAGTGCGTGCCTGCTACGAACGCTCCAACGAGTACCAGCTGATTGACTGTGCCCAGTAGTAAGTAACCGCCACCCAACCCATCAGCACATAAAACAGACAAAAACAAGAAAACATGAAAACCTGTGATCCTGCTTTGAAAGTTACTTGTTGATGATTCCTTTCTTAGAAGCCAACCAGTTACCCCACTGGCAGAAAGTTCTAATCTGATTCAATTGTTTATTTATAAAGTCCTTAATTGCATTTTTTTTCTTTTAGTGCAGCGACATTATTTTACATAAACATTTAAAGCCTGTTAGAGCAAAATGATGATGAGTTTCATAGTATTCCTAATTAGTAGGAAGTAATTAATTGAATTGACCCTAAGCATTTAGGGAAATAGGGCTGTGCTCACATTTTGAATAATGTAAAAATACTATATTTTATTGCTGTAATTTTAAAACATAACAAAGAGGAATGGTGAAGACATAGCTACGCCTCCTCTCTCCTTGGTAGTTGTTGATTGATCTATTTCTGCTCTCAGGTAAGCGACTCTAGTAGCTGCCTAGTGTTACTAGATCCTAGTGACTCTAGGTAGAGTTTGTTTTTGTGTTGTCTTGACTTTTGAACTCTATTTCATATCCTTATTTATTCCTTCTCACCGGGTCTTGATTCAAGGATGGTAAGTGGTCAATGGATTTTAAATCCTAAACTGTACACCTAAGCAGTACAATACCGTGGTGGGGTTATTTTCAAATAAAACAAATTACTACCTGCGAGGAGGACAGGTTAAGGCCTGCAGTAGCAATGGGAAAAGCATCTTTCTCCAAAGTCACTCATAAAGGTGGGCTCACCTGGTTGGTGTGTTGGCAAATGAAGAAGGGGGAACTTAAAACACAGACTTTATTGCACAACTCTACCTGATGCCCAGGCTGCTTCCCTTGCTGCCTAACACCTGACTTACCATTGCCTCAGGGATCGCCCTCTGTCCCTGTCACCCACCATGGTCTCTCCCAGAGGACATCGTACCCGATAGCTAGAAAGTTGCCTTTGAAATAGTTTATGGCTTCCCTCATCTTGCACATGATATAGCAAGCATGTGGTGGTCAGGGTTATTTAAAAAATATGTAAACATTATTATTATTTTTTTGAAACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGACCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCGCCACAACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCAAAAATGTAAAGATATCTTCTGTTTGTTGATGCTGCAGAAATGCACAAAGCAGTCTCAGTTAATGATATTCTGAAGTAGGAGTGTCCTGTGACTTGGGGCAGGGGAGTCTAGTAGAGGTTTGATGTTTTAGCCATCCTTATTACAAGTAGCTGAAACTCGGAACTGATTTTGCTATAGGAAGTATTAGCTAATCAGAACCAAGGTGCCAGGCTGACTCACCAAGGGCTAAGATTGCTTTACTTAGTAGCCTCAAGCCCAAGGAACTGATTGTGAAAACCACCTGAATAAACAGGAGGGAGGAAGAGGTAATACTGTTCATCTATAAATCATATAAGCCTCTGTTAGGGTCTGCGCAATCTATCAACCCCAGCCCTGCCTTCCCATAGGAAATTCCTTTATTTTCAATTGCCACATACATAGATATTCCACGGTTTAATATACAAGCAAATGTGTATATTTTTTCAAGGAACAGAAAAAAACAGTCCATCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAA
|
CAACTCCCTGAAGAACAGAATACTATGCTTTTTAGTCGGGATGTCTTTATGAAAGCAGTACTCCTAACTGACATGGTGCAATATGATTTTCTTTTCTTTTCAATCCCACTGCAGTGAGAAGGCAACCAAAGTGCAGGACATCAAAAACAACCTGAAAGAGGCGATTGAAGTACGTGCTGGCTCCTTGTGCTGTCTGTCTTGTAGCGCCCTCCCAGCCAGTGCTGTTCCCTGACCGCTTTGCTAAATCATTTTCAGACCATTGTGGCCGCCATGAGCAACCTGGTGCCCCCCGTGGAGCTGGCCAACCCCGAGAACCAGTTCAGAGTGGACTACATCCTGAGTGTGATGAACGTGCCTGACTTTGACTTCCCTCCCGTAAGCTACACCCCGACTTGTGTGGCCTTAGCCCCGCCCACCTGAGCACAGTGTCCATATAGGAACATGAGTGACAGCCCTGCACATGGGCAGGAGCATCCAAACCACACTTCAGGCAAAACTACATTTCAGTGATGTCCATCCTTAGGAAAAAGTTAATTTCATGTGTAACCTTAATTTAATAATAATAATCATTAGGGCTTTGTTCAAGATGGATGAGCAAAATTCTGTCACCCCTTCTACATCTTAGCTCACCTGTCCTCACAAATAAACATCACTCTTGAATACTACAATCTCACTTTATTAGATTGTAAATTTTTATGAGGAAAAAGGTCCTGAGCTATGGCAGGCTTAATTATTCCCTCATTCACATCTTAGGACAAAACTGTATGTTAAATATGGCACACAAATACTAATTGTCCATTTACTCCACTGGAAGTGCCCTAAGGTACCTTGGGATGCCTCAGTGAAGTGCCAAATGGAAGACATTCTCATTTTAAACAGGTGACCTTTTTATTAAGAGTTTTCTAAAGTCCTTGGGGCAAATGAAATCTTTTCTCATTATTAAAAAAAATGAAATATATCTAAATCATAACTCAAAAATCATAAAATAGAACATATGGAAAAGACTTTCCTCTGGATGCACGACACTGTTGGCTCCCTAAAGAACTACTTTTAGGGAACAAAAAACTGTTCAAGCCCAAGCATATAAGTTTAGGCCCCTTCGTGGGGAGAATGGCTTATAAGCGGGGAACGGGAAACGAGATGGAAAGATGTATGCGTTTGTAAGACCCACAGGGAAGAGACTTGTCTACAGCTAAAACAATGAGTTATTGTTGCCTTTTGTCAGGCTTTCGTGGGAATTTGTGTTTGTATATTTTAGATGGACTTGGCTGCAAACTTAAATTGGAGAAATTTAGTGGTATATAGTTAGTATGGATAGCTAAACTTTTTAAATAGCATTATTTTGAAAAAAAAGCAATAAACACAATATGTATAATATAACCCACTGACTTTCTTGAAATATGATTCTATATTTAATAGGAAAAGGAAACAGCAGCCTATTAAAAATGTATCAGAACAATAACTTTTTATTAGTCCTACTAACATCTGAACTTTTATGTTCCTACCTACAAGTCCCCCATCATCATTTTTTTTGGTAAGATTCACATTTTCCCAGGAGGAAAATTTAGTCCCAGCACATCTTACAAATGAAGTTTCTTATTTTCACAACATTGAACCATTTATTGGCATATTCTAACACATTTAGTGTATATTCTTCCTAAACAATTCTGTGAAGAAACTAAATTACTCAGTAGCTTACCCCATTCCCCCTACACACGAGAAAAGAAACTACCCAAAACCAGTAATTCACAATAAGACCCAGCAGCTAATTGCGTGAACTTTTGAATATGTTTAACGTGTTGAATTAAAGTTCTTTGTGAGCATTAATTCATTAATTGGGCTCAAAATTCAAAATCACACCAAGTGTCGGTCACATAGGGAACTCTGGTCTCAGGGTTTGAATGACAGTGTTGTTGATTAGTTCAAGCTCTTGCCTTTCTCTAAACTTTCTTGTGTTCACTTTCAGGAATTCTATGAGCATGCCAAGGCTCTGTGGGAGGATGAAGGAGTGCGTGCCTGCTACGAACGCTCCAACGAGTACCAGCTGATTGTGCCCAGTAGTAAGTAACCGCCACCCAACCCATCAGCACATAAAACAGACAAAAACAAGAAAACATGAAAACCTGTGATCCTGCTTTGAAAGTTACTTGTTGATGATTCCTTTCTTAGAAGCCAACCAGTTACCCCACTGGCAGAAAGTTCTAATCTGATTCAATTGTTTATTTATAAAGTCCTTAATTGCATTTTTTTTCTTTTAGTGCAGCGACATTATTTTACATAAACATTTAAAGCCTGTTAGAGCAAAATGATGATGAGTTTCATAGTATTCCTAATTAGTAGGAAGTAATTAATTGAATTGACCCTAAGCATTTAGGGAAATAGGGCTGTGCTCACATTTTGAATAATGTAAAAATACTATATTTTATTGCTGTAATTTTAAAACATAACAAAGAGGAATGGTGAAGACATAGCTACGCCTCCTCTCTCCTTGGTAGTTGTTGATTGATCTATTTCTGCTCTCAGGTAAGCGACTCTAGTAGCTGCCTAGTGTTACTAGATCCTAGTGACTCTAGGTAGAGTTTGTTTTTGTGTTGTCTTGACTTTTGAACTCTATTTCATATCCTTATTTATTCCTTCTCACCGGGTCTTGATTCAAGGATGGTAAGTGGTCAATGGATTTTAAATCCTAAACTGTACACCTAAGCAGTACAATACCGTGGTGGGGTTATTTTCAAATAAAACAAATTACTACCTGCGAGGAGGACAGGTTAAGGCCTGCAGTAGCAATGGGAAAAGCATCTTTCTCCAAAGTCACTCATAAAGGTGGGCTCACCTGGTTGGTGTGTTGGCAAATGAAGAAGGGGGAACTTAAAACACAGACTTTATTGCACAACTCTACCTGATGCCCAGGCTGCTTCCCTTGCTGCCTAACACCTGACTTACCATTGCCTCAGGGATCGCCCTCTGTCCCTGTCACCCACCATGGTCTCTCCCAGAGGACATCGTACCCGATAGCTAGAAAGTTGCCTTTGAAATAGTTTATGGCTTCCCTCATCTTGCACATGATATAGCAAGCATGTGGTGGTCAGGGTTATTTAAAAAATATGTAAACATTATTATTATTTTTTTGAAACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGACCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCGCCACAACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCAAAAATGTAAAGATATCTTCTGTTTGTTGATGCTGCAGAAATGCACAAAGCAGTCTCAGTTAATGATATTCTGAAGTAGGAGTGTCCTGTGACTTGGGGCAGGGGAGTCTAGTAGAGGTTTGATGTTTTAGCCATCCTTATTACAAGTAGCTGAAACTCGGAACTGATTTTGCTATAGGAAGTATTAGCTAATCAGAACCAAGGTGCCAGGCTGACTCACCAAGGGCTAAGATTGCTTTACTTAGTAGCCTCAAGCCCAAGGAACTGATTGTGAAAACCACCTGAATAAACAGGAGGGAGGAAGAGGTAATACTGTTCATCTATAAATCATATAAGCCTCTGTTAGGGTCTGCGCAATCTATCAACCCCAGCCCTGCCTTCCCATAGGAAATTCCTTTATTTTCAATTGCCACATACATAGATATTCCACGGTTTAATATACAAGCAAATGTGTATATTTTTTCAAGGAACAGAAAAAAACAGTCCATCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAANNNN
|
pathogenic
| 315,164 |
Mutation at chromosome 20, position 58909193, within GNAS (GNAS complex locus): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['ACTH-independent_macronodular_adrenal_hyperplasia_1', 'Disorders_of_GNAS_Inactivation', 'GNAS-related_disorder', 'Inborn_genetic_diseases', 'McCune-Albright_syndrome', 'Pituitary_adenoma_3,_multiple_types', 'Progressive_osseous_heteroplasia', 'Pseudohypoparathyroidism', 'Pseudohypoparathyroidism_type_1B', 'Pseudohypoparathyroidism_type_1C', 'Pseudohypoparathyroidism_type_I_A', 'Pseudopseudohypoparathyroidism', 'likely other unspecified diseases']
|
TTCATCTATAAATCATATAAGCCTCTGTTAGGGTCTGCGCAATCTATCAACCCCAGCCCTGCCTTCCCATAGGAAATTCCTTTATTTTCAATTGCCACATACATAGATATTCCACGGTTTAATATACAAGCAAATGTGTATATTTTTTCAAGGAACAGAAAAAAACAGTCCATCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGGGTTTTTTTAAGCAACACTTAATTACTCCTGAAACTTTGTCTGAAAACGCACCATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCACGTTTCTGGTTGAACTGCCTTTATGTTAAAGTTCAGATACTGGTAGTGTGCCCATTTCTTAAGCTGTCTATTTTTATTTGTTGAGCTGGGGTTTGGCTGGCTCCACTCCAGATGTCTCTCTCACAAGATTTGGTGCTGATGATCTATTTATAGAACTGTGGTTCTGTTGCCATGGTAACATGCTGGAGGCCAGGGCGGCTGGGGAGCTATTTCTGGACTGGTGCTGTAATGTAAGATTGATTGGGCAAGTTAGTATATCCTCTAAGCCAGACTAACTCTGAACTAGTAAAAAGGAAGAGGGGAACAGAAAACTTAGGCAGTTTCTTTAAATAAACTTTTCTCTCTTTATGATTTTCTTTTCTCGTTAGCCCGCTTTAAAACAATTCCAATCTCTACATGCCCCTCCCTCCAAAAAATAACTGGTTTTAACATTAATTTTCCATATTAATTACCCCAATCTTTCAAAAGTAAATTTTCCTGTGTGTCTAGTCAAGCAACACAAACAAGATGCTTTTTTTAATGAAAAGCGTAATATCTGGAGTGTTCTATTTCATGGACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCA
|
TTCATCTATAAATCATATAAGCCTCTGTTAGGGTCTGCGCAATCTATCAACCCCAGCCCTGCCTTCCCATAGGAAATTCCTTTATTTTCAATTGCCACATACATAGATATTCCACGGTTTAATATACAAGCAAATGTGTATATTTTTTCAAGGAACAGAAAAAAACAGTCCATCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGGGTTTTTTTAAGCAACACTTAATTACTCCTGAAACTTTGTCTGAAAACGCACCATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCACGTTTCTGGTTGAACTGCCTTTATGTTAAAGTTCAGATACTGGTAGTGTGCCCATTTCTTAAGCTGTCTATTTTTATTTGTTGAGCTGGGGTTTGGCTGGCTCCACTCCAGATGTCTCTCTCACAAGATTTGGTGCTGATGATCTATTTATAGAACTGTGGTTCTGTTGCCATGGTAACATGCTGGAGGCCAGGGCGGCTGGGGAGCTATTTCTGGACTGGTGCTGTAATGTAAGATTGATTGGGCAAGTTAGTATATCCTCTAAGCCAGACTAACTCTGAACTAGTAAAAAGGAAGAGGGGAACAGAAAACTTAGGCAGTTTCTTTAAATAAACTTTTCTCTCTTTATGATTTTCTTTTCTCGTTAGCCCGCTTTAAAACAATTCCAATCTCTACATGCCCCTCCCTCCAAAAAATAACTGGTTTTAACATTAATTTTCCATATTAATTACCCCAATCTTTCAAAAGTAAATTTTCCTGTGTGTCTAGTCAAGCAACACAAACAAGATGCTTTTTTTAATGAAAAGCGTAATATCTGGAGTGTTCTATTTCATGGACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCANNNN
|
pathogenic
| 315,169 |
Gene GNAS (GNAS complex locus) variant at chromosome 20, position 58909198—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic
|
CTATAAATCATATAAGCCTCTGTTAGGGTCTGCGCAATCTATCAACCCCAGCCCTGCCTTCCCATAGGAAATTCCTTTATTTTCAATTGCCACATACATAGATATTCCACGGTTTAATATACAAGCAAATGTGTATATTTTTTCAAGGAACAGAAAAAAACAGTCCATCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGGGTTTTTTTAAGCAACACTTAATTACTCCTGAAACTTTGTCTGAAAACGCACCATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCACGTTTCTGGTTGAACTGCCTTTATGTTAAAGTTCAGATACTGGTAGTGTGCCCATTTCTTAAGCTGTCTATTTTTATTTGTTGAGCTGGGGTTTGGCTGGCTCCACTCCAGATGTCTCTCTCACAAGATTTGGTGCTGATGATCTATTTATAGAACTGTGGTTCTGTTGCCATGGTAACATGCTGGAGGCCAGGGCGGCTGGGGAGCTATTTCTGGACTGGTGCTGTAATGTAAGATTGATTGGGCAAGTTAGTATATCCTCTAAGCCAGACTAACTCTGAACTAGTAAAAAGGAAGAGGGGAACAGAAAACTTAGGCAGTTTCTTTAAATAAACTTTTCTCTCTTTATGATTTTCTTTTCTCGTTAGCCCGCTTTAAAACAATTCCAATCTCTACATGCCCCTCCCTCCAAAAAATAACTGGTTTTAACATTAATTTTCCATATTAATTACCCCAATCTTTCAAAAGTAAATTTTCCTGTGTGTCTAGTCAAGCAACACAAACAAGATGCTTTTTTTAATGAAAAGCGTAATATCTGGAGTGTTCTATTTCATGGACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCAT
|
CTATAAATCATATAAGCCTCTGTTAGGGTCTGCGCAATCTATCAACCCCAGCCCTGCCTTCCCATAGGAAATTCCTTTATTTTCAATTGCCACATACATAGATATTCCACGGTTTAATATACAAGCAAATGTGTATATTTTTTCAAGGAACAGAAAAAAACAGTCCATCTTGGCTGGTCCCTATGGCCCCCAGCCCCCACTCCTTCTTCAACAAAGTCCCTGATTTTCTCAAAAGTTCGAACCAAAAGCTGGAAGCGCTAATTATAGTAACGCAAAACAAATGGAAATCCTGGAATTGTTTGCATTTTGTATTTTGGATCCAAGTCAGAAGTTAAGTACAGGTACAAGATTAAGAGAGTTTAACCACCCCAGTTTTGAATGCTGGGGGGGCAGGGAGACCCAGTTTCGTTAATTAACAGTAGCTTAGCCAGATTGTTGAATTTTGTCGGGTTTCGTTTTCTCTCTCAAATCATTTAGAAGTTTTTGGGGTTTTTTTAAGCAACACTTAATTACTCCTGAAACTTTGTCTGAAAACGCACCATTTGTATAGATCATGAAAAGTTTTAAGGAAACTCAGAGAAAAAGAGAACAACGCAGCTTAAAACTTTTAAAATGTCCTCCCTCACCCGTGGCTCAAACAGCCCTGCATCTGCCGTGGCCGGCACGTTTCTGGTTGAACTGCCTTTATGTTAAAGTTCAGATACTGGTAGTGTGCCCATTTCTTAAGCTGTCTATTTTTATTTGTTGAGCTGGGGTTTGGCTGGCTCCACTCCAGATGTCTCTCTCACAAGATTTGGTGCTGATGATCTATTTATAGAACTGTGGTTCTGTTGCCATGGTAACATGCTGGAGGCCAGGGCGGCTGGGGAGCTATTTCTGGACTGGTGCTGTAATGTAAGATTGATTGGGCAAGTTAGTATATCCTCTAAGCCAGACTAACTCTGAACTAGTAAAAAGGAAGAGGGGAACAGAAAACTTAGGCAGTTTCTTTAAATAAACTTTTCTCTCTTTATGATTTTCTTTTCTCGTTAGCCCGCTTTAAAACAATTCCAATCTCTACATGCCCCTCCCTCCAAAAAATAACTGGTTTTAACATTAATTTTCCATATTAATTACCCCAATCTTTCAAAAGTAAATTTTCCTGTGTGTCTAGTCAAGCAACACAAACAAGATGCTTTTTTTAATGAAAAGCGTAATATCTGGAGTGTTCTATTTCATGGACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATNN
|
pathogenic
| 315,170 |
Gene GNAS (GNAS complex locus) variant at chromosome 20, position 58910417—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
benign
|
GACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCACGTAACATTCAGTCCACATGTTCTTGCTAT
|
GACCAAACAGAACGGAAGAGAACTTTGTGTTTGTTTCCTGTTCAGGATGGCTAGGGCGAGAAGGGCCCCTTTGTGCCAACCTCTTTTGTTCTCTTTAATCAATGAGATTCTTAAAAAGTAAAAAGGAAGGGATACAGATTCTCAGTAACTAAAACAATCTCGTGTGCCCTTGAGGGGAAAGTCCTTGATGTTTTTAAGAATGTCACTTTATTGTTTTTTAACTGAATGATATAGAGGTATACAATTTTCAAACTGTTTGCCATTTTAATCAAGCAATTTGAAAATTAAAATGTTTTTGTCAGGCATTACCAAATGGCACAGAATGTGATAGGCCAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCACGTAACATTCAGTCCACATGTTCTTGCTATNNNN
|
benign
| 315,192 |
Located at chromosome 20 position 58910750, the variant affecting gene GNAS (GNAS complex locus)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Pseudohypoparathyroidism']
|
CAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCACGTAACATTCAGTCCACATGTTCTTGCTATGCAATTTTTAGTACAAAGCCCTCAAAAGCCCCCCAAATATAAAATCCAAGTAAAAATCGGGGCTTGCTATGCAAATACAGCTGAAAGACTAGCCCACAAGTTCCCATAATCCTCCAAAGCACCCCAAATAAACACACATAAAACCTGGACAGTGGCTATCAAGTGCAACCACAAGACCAGCGTGCCACACAAACATTCATCCAGGTAAAGGCTGTGCTCAGTGAAAATCAAGGTTGAACTCCAGCCCCTAGCTCCTCTTCCAAGATGGCTCCCTGTATGTCCCTTTTACATAGAAATTCTGGAACCTTCTTAGCATAATCCACATGAGATTGT
|
CAGCCTGGTTTTGGGGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCACGTAACATTCAGTCCACATGTTCTTGCTATGCAATTTTTAGTACAAAGCCCTCAAAAGCCCCCCAAATATAAAATCCAAGTAAAAATCGGGGCTTGCTATGCAAATACAGCTGAAAGACTAGCCCACAAGTTCCCATAATCCTCCAAAGCACCCCAAATAAACACACATAAAACCTGGACAGTGGCTATCAAGTGCAACCACAAGACCAGCGTGCCACACAAACATTCATCCAGGTAAAGGCTGTGCTCAGTGAAAATCAAGGTTGAACTCCAGCCCCTAGCTCCTCTTCCAAGATGGCTCCCTGTATGTCCCTTTTACATAGAAATTCTGGAACCTTCTTAGCATAATCCACATGAGATTGTNN
|
pathogenic
| 315,194 |
Does the genetic variant at chromosome 20, position 58910764, impacting gene GNAS (GNAS complex locus), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['GNAS-related_disorder', 'Pseudopseudohypoparathyroidism']
|
GGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCACGTAACATTCAGTCCACATGTTCTTGCTATGCAATTTTTAGTACAAAGCCCTCAAAAGCCCCCCAAATATAAAATCCAAGTAAAAATCGGGGCTTGCTATGCAAATACAGCTGAAAGACTAGCCCACAAGTTCCCATAATCCTCCAAAGCACCCCAAATAAACACACATAAAACCTGGACAGTGGCTATCAAGTGCAACCACAAGACCAGCGTGCCACACAAACATTCATCCAGGTAAAGGCTGTGCTCAGTGAAAATCAAGGTTGAACTCCAGCCCCTAGCTCCTCTTCCAAGATGGCTCCCTGTATGTCCCTTTTACATAGAAATTCTGGAACCTTCTTAGCATAATCCACATGAGATTGTCACAGCTCTAGCCA
|
GGTCCTTTCTCTACTGGTTGATATGCATAAAACCTTCTAAAAATCAAGAATATTGCCAGAGAGCAACAGGAATAAAGAAGCTAAGTAAAGAATAAAAAAGAAAAATAGAAAAAATAAAAATAAACACGAAGAACAAAGCCCCACCACCGTGCTGTGCTGTTTGTGTGGCCCCACTGCGTCGAGGCCACAGGCTAGCTGCTAGACGCATCTAGAGTTCCCTGATTCCTAAAATTATTTATCTTAAATCCTGTTTGCCCTAACCTTCTTAAGGCATCAGCTTTGAGTTACAAATGTAACCAACACACAAGCAAATGTGCCATTGACTTAGTGCTGCATAACTGTGGGACGGTCACTTCCGTTGAGCCTGACCTTGTAGAGAGACACAAATAGTTGGCAAATTGATGTGAGCGCTGTGAACACCCCACGTGTCTTTCTTTTTCTCCCAGCTTCCTGGACAAGATCGACGTGATCAAGCAGGCTGACTATGTGCCGAGCGATCAGGTGTGCAAAACCCCTCCCCACCAGAGGACTCTGAGCCCTCTTTCCAAACTACTCCAGACCTTTGCTTTAGATTGGCAATTATTACTGTTTCGGTTGGCTTTGGTGAGATCCATTGACCTCAATTTTGTTTCAGGACCTGCTTCGCTGCCGTGTCCTGACTTCTGGAATCTTTGAGACCAAGTTCCAGGTGGACAAAGTCAACTTCCAGTAAGCCAACTGTTACCTTTTTATATAACAGAGATCATGGTTTCTTGACATTCACCCCAGTCCCTCTGGAATAACCAGCTGTCCTCCTCCCCACCAGCATGTTTGACGTGGGTGGCCAGCGCGATGAACGCCGCAAGTGGATCCAGTGCTTCAACGGTAGGATGCTGTGGGCTTGGCTGTTCGTAAAGAACGCTTTGCTTCTGTGTTGTTAGGGATCAGGGTCGCTGCTCACGCTCTTGGCTTTGCTCTCTTTGGTTAAGATGTGACTGCCATCATCTTCGTGGTGGCCAGCAGCAGCTACAACATGGTCATCCGGGAGGACAACCAGACCAACCGCCTGCAGGAGGCTCTGAACCTCTTCAAGAGCATCTGGAACAACAGGTTTGTGGAGTGACCGCCCACCCCCTGCGCTTGCCCAGGAGGCCCTGGTCTGCACTGTTTATAGAGAAGAACCCCGTGCAAGCATTCCAGACCCCTGGCCGAAAGCGCGCTTCTCCCAAGCATTCACACGGCCTCCCTTCTTGTAGATGGCTGCGCACCATCTCTGTGATCCTGTTCCTCAACAAGCAAGATCTGCTCGCTGAGAAAGTCCTTGCTGGGAAATCGAAGATTGAGGACTACTTTCCAGAATTTGCTCGCTACACTACTCCTGAGGATGGTGTGTATGGCTTCCACTCTTGCTGGCTGTTCATTGCGGTGGTTCTTTTTCAAACGGTCAGGCTGAAAACCCCCATCCCCCTCCCACCACCAAACCATAAAGGATCTATAAGAGAAGCAAGAAAAACGCACTCCCACTAATTCTCATATGGAAAAATCAGGGTTTTGAAGACTTCAGGAGCTACAGAGATGCTAGCACCCCAGCTCTGCTTGAATTTTAAATTACATTAATATGTATTCCCTTTTTATATAGCTACTCCCGAGCCCGGAGAGGACCCACGCGTGACCCGGGCCAAGTACTTCATTCGAGATGAGTTTCTGGTGAGTCGAGCCTGTCTTTAGTTTCCTCTCTTGTTCCTCCTCTTTTTCTCATGGATGTAAATTTACTTAATTCCAAATTCAGGGGTTCAGCTACCCAGTTCCATGGTTTTAGTTCACGCACATCCAGTGTGGATTTGAGCTCTTTGCGCCCCTCTTTTTGCTTTTGTTTTCATATGACATCAGAGGCTGGCTGACAGCCGTCCCTGGTAGGTGTCCCCATCAGGGATAGGGTGGTTCCTGGCGAGGGTGTCACTGACAAGTCCCCTTGTTTGTGCCCGCAGAGGATCAGCACTGCCAGTGGAGATGGGCGTCACTACTGCTACCCTCATTTCACCTGCGCTGTGGACACTGAGAACATCCGCCGTGTTCAACGACTGCCGTGACATCATTCAGCGCATGCACCTTCGTCAGTACGAGCTGCTCTAAGAAGGGAACCCCCAAATTTAATTAAAGCCTTAAGCACAATTAATTAAAAGTGAAACGTAATTGTACAAGCAGTTAATCACCCACCATAGGGCATGATTAACAAAGCAACCTTTCCCTTCCCCCGAGTGATTTTGCGAAACCCCCTTTTCCCTTCAGCTTGCTTAGATGTTCCAAATTTAGAAAGCTTAAGGCGGCCTACAGAAAAAGGAAAAAAGGCCACAAAAGTTCCCTCTCACTTTCAGTAAAAATAAATAAAACAGCAGCAGCAAACAAATAAAATGAAATAAAAGAAACAAATGAAATAAATATTGTGTTGTGCAGCATTAAAAAAAATCAAAATAAAAATTAAATGTGAGCAAAGAATGATGGGACTCCCGTGAGTTATTTGTGGTTCTGAGCAAATTCCCGTCATTCATGGTTTTGACTTGGTCCTTAGGTCAAAAGTTGGGAGGCCCCAAGGTGAAGTGGGTATAAAATCTCACCACTGTATGTTTTCTGGTGACCCTAATCTGTAGGTGTCTTGAAACAATTTGCAGACAATAGGAAAAGTCCACTCCTGTTCCTCCTAAATTTCACCCCATAGTGAACCACTATGCCCCAGTCAGTCACCTCTGCATTTTGATCATTGCCATCCTATCCAAAGATTCTACCAACAACTCACACCGTTACGTCATCACACAGTTTGCCTGCTGACCCAGGCTTCCCAAGAAAAGTAGTGTATGTTTTGCTATAAGATAAGATAGGGACTAAATTATGTGGAGGAGAAATAGAGGAGCACAGTGTTTCCAATCAATGGGGTTATTCAAGAAATGGTGTAGCCATTTGGGGAAAATTGAGGCTGGATCCCTACCTCATTGCACACACCAAAATGAATTTGACATAAGTTGATCACATACATCTAAATAAAAGAGGTACTTTTTAAAGTGGCTATTTTATAATTAAAACCTTGGGTTTTTAAAGGGCCTCTCTGCAGCATAACCTAAGACCTAAAGGCCATAACGGGGTTGGGGATGACTATAAAAACGAAAATCACACGTAAAATTTGAATGGGGGAAGGGCCTGGGTCAGGTAGAAATTTAACAAAGGGTTTACTTCCCTAATAAGCAAAGAGTTCTTATGAATTAATAAGCAAAACCATCAGAAAAATGGGCACAGTATATAAGCATGCAACTTAAATACAAATAATAAGCCTCTGGGGATATGTGGGACATCACTCATAAATATTCACCATAATTGGGAGTGGGGATGGGGGTCCACACTCACGGGTTGAAGTGTGGCTTATTTCTGAGGTCCTGTGGGTTCCCTAGACTTTCACCCCTACGCTTATCCCCCAAGGTGTAGTCTCATATGTGGTCACTTCCTGGGTGGCTTCCAGGAAGGGTGGGAGGAAGTGATCAGCATCAACGATGGTGCCCTCTGAAGCTGGCCAAATGGGACTTCAAGTTCATTCTGTAATCCAGGTCCCAAATCCACTTCCTATTCTAGTTTCCAGATCAAATTACTCTCACCCAAATTAATCATATAGTGTAGCTCACCAGAGGTGAGCGATGAGCCCCACGGGGGTGCAGAAAAGTAGCAAATACCTGCATCTCCATCCAACTTTCACGTAACATTCAGTCCACATGTTCTTGCTATGCAATTTTTAGTACAAAGCCCTCAAAAGCCCCCCAAATATAAAATCCAAGTAAAAATCGGGGCTTGCTATGCAAATACAGCTGAAAGACTAGCCCACAAGTTCCCATAATCCTCCAAAGCACCCCAAATAAACACACATAAAACCTGGACAGTGGCTATCAAGTGCAACCACAAGACCAGCGTGCCACACAAACATTCATCCAGGTAAAGGCTGTGCTCAGTGAAAATCAAGGTTGAACTCCAGCCCCTAGCTCCTCTTCCAAGATGGCTCCCTGTATGTCCCTTTTACATAGAAATTCTGGAACCTTCTTAGCATAATCCACATGAGATTGTCACAGCTCTAGCCANN
|
pathogenic
| 315,196 |
Variant at chromosome position 59301498, chromosome 20, gene EDN3 (endothelin 3): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
benign
|
ATCAAGCCAGGGGGATGTTGTAGCACTCTTTTGGACTGTCCTCAGAAACTGCTCTGGTCACTTCAGCTGCTTTCTAGTTTTCAGAAGCTGGTCGTTAAGGCTAGTAGAGGGCAGGACCCAATTCAACCCCATTTTTTAGAGATGAGGTCTCGCTATGTTGCCCAGGCTGGTCTTGAACTCCCAGGCTCAAGCAATCCATCCACCTTGGCCTCTCAAAGAGCTGGAATTACAGATGTGAAGCACTGCCCCTCCCCCAACCCCATCTGTTATGAAAGGAGGGTCCTTTGACCACAAGTGCCCTGAGAAGTCAGGAGGACTTCCCAGTCTCAGACATTTTTATCTGAGCTGGAGATGGGGACAGCCTCCCACACACAGGACTTGGAAGGCTATGAAGGAAGTAGGGGGCTCTCTTGGGAGGTCATTTCCCTTGGTAGGGACGGTTGTGTGAATGAACTTGGCCTTTAGGGAGAGGAGCCCGACTCTCACCTGAAGCCACCCAACCTGTGCAGATGGCTGAGGAAGCCCTGGACACCACAGGACCGCTAACCCAGGATCTTTGTTGACTTTGCTCCCAGGCCACTGCCCCACACGCAGGCTCTGAACTCCTGGGAGAGGTAGGGAGCCAGCCCGAGGCGTGAGTCAAGAGTGTAAAGTACACCGAGTTCCTTGGCAAGCAGGCTCTTCAAGGGGAAGGTGTCACTCGGGGAACAATGAGAAATGTGTCTTTCCCTCAGCCCCTGATAGAAAAGATAACACCCCTTGAGCACAGCCTTTTCTCATCTGTTCTTGCTCTTGGATGGGGGGCTGCTACTCCGGAGCGGCGAACTGGCGGGCGGGGGTGCGCCTGTGAGTGTGAGCGCGCGTGTGCGTGTGTGCGCGCGCTCTCGTGGCCTTCCGGCAGCTGGCAGCTGTCCCGGCCCCCACCCCACCCTACCCCACCCCACCCAGCCGCGCCACGCCACGCCGCCCCCGCCCCTCGCTGTCCTGGGTGCGCCTCGGGCCGCTGCGCTCCTGGCCAGCTCCCCCCAGCGCCTGGGAGGCGACCCCCAGTGCGCCCGGGTTCAAAGGCCCGGCGAGGCAGTTCCAGCCCCTCTGGGGGGCGGGGAGGCGACGGGGGTGGTGCAGAAGCCAGAAAAGCCCGAGCCACAGCCGGCCAGCTCCGCGCAGGGATGGGCAGCGCGCTCTGAAAGTTTATGACCGCCGCAGCCAACTCCTGGCCGGAGCTGGAGACGCAGCGAGCGATCGGCCGGCCTCGAACCCCCACAGCTGGAGGGCGAGGCCAGCTGTACCCGGCCCCAGTGCCCTTTCGCGGCCACAAGCGGCCGTCCTCCTGGTCCGGTGCTCCGGCGCCTGATCTAGGTTCATGGAGCCGGGGCTGTGGCTCCTTTTCGGGCTCACAGTGACCTCCGCCGCAGGTAAGCGCACGGGGCGGCGCGCCTCTCCTGGCGCGAGCGCACACAAAAGGACCCAGGGCGGGGGACCCGAGGCGCGGAGAAGATGTGCGTCGCGGGGAGCAAACTCTTGCCTGGGCTCTGCACTCGTGAAGACGCCTGGGGGAGGGCTGGGGAGCAGAAGCGGCGCGCAACGACTACCCGCACGGGCTCCGGGAGTTGCAGCCCGCGCACTGGCTGGAGACCTGCTGCCTGGGCCGACTTGGTCAATTTTTCATGAAACTGGGGACTTTTCAGAAAGTTTGCGAACTATTCAGAGGCTGTGCCAAACCCTGGCAAAGTTTGCAGAAAGTATGCAAAATGCATGCAAGTTTTCAACGGGTGCAGATAGCTTGCAAGCTTTTCACAGAGTGTGCAGATAGCTTGGAAACTTTTCAGAAACTGCGCAGAGCTTTGGAAACTTTGCAGACATTTTGCTTGCTCCACCCCCCTCCTCAGGTGTTTGGGGGTGGCGGGTGTTGAGGGGTCTGCACACTCAGCTTAGGAGCCCCTCAATCTGCCTTCTGCAGGATTCGTGCCTTGCTCCCAGTCTGGGGATGCTGGCAGGCGCGGCGTGTCCCAGGCCCCCACTGCAGCCAGATCTGAGGGGGACTGTGAAGAGACTGTGGCTGGCCCTGGCGAGGAGACTGTGGCTGGCCCTGGCGAGGGGACTGTGGCCCCGACAGCACTGCAGGGTCCAAGCCCTGGAAGCCCTGGGCAGGAGCAGGCGGCCGAGGGGGCCCCTGAGCACCACCGATCCAGGCGCTGCACGTGCTTCACCTACAAGGACAAGGAGTGTGTCTACTATTGCCACCTGGACATCATTTGGATCAACACTCCCGAGTAAGTCAGCCTTTTGTGGTGAGGAACGTGGCTCCCGGACCAGGCCCACATCTGCTCATTCCCAGGAGGACCTCACTCCACCCCAGCCCCGCTCAGTTAGCCCAGAGCCTGCCCTGGCACAGCCTTTAGCTCTTGCTGGGGCCTCTTGCCAGCCCAGGTCTCTTCTGCAGGTCAGGGGTGTGACCCACATCCCCCCTGAGGGCCTGGCCCAAGAGAAACTCAATCCTGAGTTTGATCCTGTGGAAGGAGGAGCCCTCCCTCTGAATGAAGTGAACTGACCAGGGGGATTAGATACCTGAGATGTCTCTCTGAGCCTCTTTTCTGAGATAGAGAAAGCCCCGAAAGTTTATCTCATTCCCCAGGGGCCAAGGGGGCTCATACTCACTGTTGACCCCACCAGGATCCAAGGGGTTTAAAATTCCTTGAAAGCATCCTGGTCTCCAGGGAGTCTAAGGGTGGGTTTAGCTGAGCCTGACAGAACCTGCACAGTCCACTCGGGGTAGAATTCCCCTGGGATGGGCTCCCTTCCTTCCTGTGGGCCCCCCTGGATGCCAAGGCAGGGTGAATTCACATCAGCTCGTCCTTGGGCCTTCCACAGGCTGGCTCCAGTCACCCACTGCCATGGTCACAGAGGGCCTTCCCTTCTCTCCTGCAGTCCTTAGAAACTCTCTTACCCTAGGGCCTAGACAGCACCATCCTGAATTTGTCTTGGGGTTCGTCCAGTGGGGAAGTCAGCCTTCTCCTGGGGCCATGTGGAGAGAGTGTGGCTCTGACAGGGGGAGGCTTTGATGACTCCCAGTGTTCAGGGAACCCCTCCTGCAGGCACATCATCTTGCAGGCCATACAGAGGGCTTGACCTTGCCTGGGTCACCAACTCTCTGGCATTGGCTTCCCCATCTCTAAGATCTGGGACTTGGATCAGACACCTCTAAGTTCTGTTCCCTGGGTGTTCATGGGATCTCTTGGGACTCTTGCTTGTACCCTATTAGGGATTCTTAGCTGAGAACTCAGAGATGGTTGTGAATGCAAGCCCCTGGAAGCCTGGAAAGGCACCTTTGCCACCGTGTCCCGGAGCCGTCTTGATTCAGGTTCCTCACGGTCACCTTTATCCCCAAGCCCCATAACCTCTGAGCCCTTGGTAGCAGCTTTCATGGGGCTCACTTACCTACCTTGTGTCATCGGCACCTCAAAAATGAAGTGCAGACGAGGGTAGTAAACCTGAGGGGTGGAATGTCTTTCAGACCAGGGGACAAGACCTCTAATCACATCCATGATAGATCTGGAACATCACCCCACCATGCTTGAAGGGCAGGCAGGGGCTTCACATTGAGCCAGCAGGACACGTGCACAAAGTCCTGCACTCAGAAAGACTCTGGCTCGGCTTAAAGTCCTGCTGTCACTGTCTTGAAATCCTTAATACTTTCTGAACAAAGAGCTGCACATTTGCATTTTCTCCTGGGTCCCATAAATTCTGTAGCTGGTCGTGATACCCTGATTTGCTGGCTGGGCTGTGTCCACCTAGAGGATGGGAGGTGCCTCCCTGTTTCTTTCCCTTTGTGGGGAAGATAGAAGCTGTGAGTGTTGGGCCATCATCAATTGCCTCTTATCCTCAGATAGCGAGGGGAGTCACCTTTCCTTGTAGCCCCTGCACCTTGGCACTGCCCTTTCTGATTCTTATCCTGCATCATTGTGCTCTGATCAAATTCACTTCATAGAATGGAGGGCACTGGGCAGTCACCAGGAACCGAGTTCTTGTCTTGGCCAGAATCCCCAGCTGTGAATCTAGAAGGAGAAAGAAGAAAGCTAATGGAATTACAGACAGG
|
ATCAAGCCAGGGGGATGTTGTAGCACTCTTTTGGACTGTCCTCAGAAACTGCTCTGGTCACTTCAGCTGCTTTCTAGTTTTCAGAAGCTGGTCGTTAAGGCTAGTAGAGGGCAGGACCCAATTCAACCCCATTTTTTAGAGATGAGGTCTCGCTATGTTGCCCAGGCTGGTCTTGAACTCCCAGGCTCAAGCAATCCATCCACCTTGGCCTCTCAAAGAGCTGGAATTACAGATGTGAAGCACTGCCCCTCCCCCAACCCCATCTGTTATGAAAGGAGGGTCCTTTGACCACAAGTGCCCTGAGAAGTCAGGAGGACTTCCCAGTCTCAGACATTTTTATCTGAGCTGGAGATGGGGACAGCCTCCCACACACAGGACTTGGAAGGCTATGAAGGAAGTAGGGGGCTCTCTTGGGAGGTCATTTCCCTTGGTAGGGACGGTTGTGTGAATGAACTTGGCCTTTAGGGAGAGGAGCCCGACTCTCACCTGAAGCCACCCAACCTGTGCAGATGGCTGAGGAAGCCCTGGACACCACAGGACCGCTAACCCAGGATCTTTGTTGACTTTGCTCCCAGGCCACTGCCCCACACGCAGGCTCTGAACTCCTGGGAGAGGTAGGGAGCCAGCCCGAGGCGTGAGTCAAGAGTGTAAAGTACACCGAGTTCCTTGGCAAGCAGGCTCTTCAAGGGGAAGGTGTCACTCGGGGAACAATGAGAAATGTGTCTTTCCCTCAGCCCCTGATAGAAAAGATAACACCCCTTGAGCACAGCCTTTTCTCATCTGTTCTTGCTCTTGGATGGGGGGCTGCTACTCCGGAGCGGCGAACTGGCGGGCGGGGGTGCGCCTGTGAGTGTGAGCGCGCGTGTGCGTGTGTGCGCGCGCTCTCGTGGCCTTCCGGCAGCTGGCAGCTGTCCCGGCCCCCACCCCACCCTACCCCACCCCACCCAGCCGCGCCACGCCACGCCGCCCCCGCCCCTCGCTGTCCTGGGTGCGCCTCGGGCCGCTGCGCTCCTGGCCAGCTCCCCCCAGCGCCTGGGAGGCGACCCCCAGTGCGCCCGGGTTCAAAGGCCCGGCGAGGCAGTTCCAGCCCCTCTGGGGGGCGGGGAGGCGACGGGGGTGGTGCAGAAGCCAGAAAAGCCCGAGCCACAGCCGGCCAGCTCCGCGCAGGGATGGGCAGCGCGCTCTGAAAGTTTATGACCGCCGCAGCCAACTCCTGGCCGGAGCTGGAGACGCAGCGAGCGATCGGCCGGCCTCGAACCCCCACAGCTGGAGGGCGAGGCCAGCTGTACCCGGCCCCAGTGCCCTTTCGCGGCCACAAGCGGCCGTCCTCCTGGTCCGGTGCTCCGGCGCCTGATCTAGGTTCATGGAGCCGGGGCTGTGGCTCCTTTTCGGGCTCACAGTGACCTCCGCCGCAGGTAAGCGCACGGGGCGGCGCGCCTCTCCTGGCGCGAGCGCACACAAAAGGACCCAGGGCGGGGGACCCGAGGCGCGGAGAAGATGTGCGTCGCGGGGAGCAAACTCTTGCCTGGGCTCTGCACTCGTGAAGACGCCTGGGGGAGGGCTGGGGAGCAGAAGCGGCGCGCAACGACTACCCGCACGGGCTCCGGGAGTTGCAGCCCGCGCACTGGCTGGAGACCTGCTGCCTGGGCCGACTTGGTCAATTTTTCATGAAACTGGGGACTTTTCAGAAAGTTTGCGAACTATTCAGAGGCTGTGCCAAACCCTGGCAAAGTTTGCAGAAAGTATGCAAAATGCATGCAAGTTTTCAACGGGTGCAGATAGCTTGCAAGCTTTTCACAGAGTGTGCAGATAGCTTGGAAACTTTTCAGAAACTGCGCAGAGCTTTGGAAACTTTGCAGACATTTTGCTTGCTCCACCCCCCTCCTCAGGTGTTTGGGGGTGGCGGGTGTTGAGGGGTCTGCACACTCAGCTTAGGAGCCCCTCAATCTGCCTTCTGCAGGATTCGTGCCTTGCTCCCAGTCTGGGGATGCTGGCAGGCGCGGCGTGTCCCAGGCCCCCACTGCAGCCAGATCTGAGGGGGACTGTGAAGAGACTGTGGCTGGCCCTGGCGAGGGGACTGTGGCCCCGACAGCACTGCAGGGTCCAAGCCCTGGAAGCCCTGGGCAGGAGCAGGCGGCCGAGGGGGCCCCTGAGCACCACCGATCCAGGCGCTGCACGTGCTTCACCTACAAGGACAAGGAGTGTGTCTACTATTGCCACCTGGACATCATTTGGATCAACACTCCCGAGTAAGTCAGCCTTTTGTGGTGAGGAACGTGGCTCCCGGACCAGGCCCACATCTGCTCATTCCCAGGAGGACCTCACTCCACCCCAGCCCCGCTCAGTTAGCCCAGAGCCTGCCCTGGCACAGCCTTTAGCTCTTGCTGGGGCCTCTTGCCAGCCCAGGTCTCTTCTGCAGGTCAGGGGTGTGACCCACATCCCCCCTGAGGGCCTGGCCCAAGAGAAACTCAATCCTGAGTTTGATCCTGTGGAAGGAGGAGCCCTCCCTCTGAATGAAGTGAACTGACCAGGGGGATTAGATACCTGAGATGTCTCTCTGAGCCTCTTTTCTGAGATAGAGAAAGCCCCGAAAGTTTATCTCATTCCCCAGGGGCCAAGGGGGCTCATACTCACTGTTGACCCCACCAGGATCCAAGGGGTTTAAAATTCCTTGAAAGCATCCTGGTCTCCAGGGAGTCTAAGGGTGGGTTTAGCTGAGCCTGACAGAACCTGCACAGTCCACTCGGGGTAGAATTCCCCTGGGATGGGCTCCCTTCCTTCCTGTGGGCCCCCCTGGATGCCAAGGCAGGGTGAATTCACATCAGCTCGTCCTTGGGCCTTCCACAGGCTGGCTCCAGTCACCCACTGCCATGGTCACAGAGGGCCTTCCCTTCTCTCCTGCAGTCCTTAGAAACTCTCTTACCCTAGGGCCTAGACAGCACCATCCTGAATTTGTCTTGGGGTTCGTCCAGTGGGGAAGTCAGCCTTCTCCTGGGGCCATGTGGAGAGAGTGTGGCTCTGACAGGGGGAGGCTTTGATGACTCCCAGTGTTCAGGGAACCCCTCCTGCAGGCACATCATCTTGCAGGCCATACAGAGGGCTTGACCTTGCCTGGGTCACCAACTCTCTGGCATTGGCTTCCCCATCTCTAAGATCTGGGACTTGGATCAGACACCTCTAAGTTCTGTTCCCTGGGTGTTCATGGGATCTCTTGGGACTCTTGCTTGTACCCTATTAGGGATTCTTAGCTGAGAACTCAGAGATGGTTGTGAATGCAAGCCCCTGGAAGCCTGGAAAGGCACCTTTGCCACCGTGTCCCGGAGCCGTCTTGATTCAGGTTCCTCACGGTCACCTTTATCCCCAAGCCCCATAACCTCTGAGCCCTTGGTAGCAGCTTTCATGGGGCTCACTTACCTACCTTGTGTCATCGGCACCTCAAAAATGAAGTGCAGACGAGGGTAGTAAACCTGAGGGGTGGAATGTCTTTCAGACCAGGGGACAAGACCTCTAATCACATCCATGATAGATCTGGAACATCACCCCACCATGCTTGAAGGGCAGGCAGGGGCTTCACATTGAGCCAGCAGGACACGTGCACAAAGTCCTGCACTCAGAAAGACTCTGGCTCGGCTTAAAGTCCTGCTGTCACTGTCTTGAAATCCTTAATACTTTCTGAACAAAGAGCTGCACATTTGCATTTTCTCCTGGGTCCCATAAATTCTGTAGCTGGTCGTGATACCCTGATTTGCTGGCTGGGCTGTGTCCACCTAGAGGATGGGAGGTGCCTCCCTGTTTCTTTCCCTTTGTGGGGAAGATAGAAGCTGTGAGTGTTGGGCCATCATCAATTGCCTCTTATCCTCAGATAGCGAGGGGAGTCACCTTTCCTTGTAGCCCCTGCACCTTGGCACTGCCCTTTCTGATTCTTATCCTGCATCATTGTGCTCTGATCAAATTCACTTCATAGAATGGAGGGCACTGGGCAGTCACCAGGAACCGAGTTCTTGTCTTGGCCAGAATCCCCAGCTGTGAATCTAGAAGGAGAAAGAAGAAAGCTAATGGAATTACAGACAGGNNNNNNNNNNNNNNNNNNNNNNNN
|
benign
| 315,237 |
Located at chromosome 20 position 59322388, the variant affecting gene EDN3 (endothelin 3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
benign
|
CTGTGCACATGGAAGAAATTCAGTCAGAAACCTCAGGTCTGGCCTCAGGCTGCGGGGTAGGCAGGTGATCTGATCAGGGCGAAGACCCAGACCAGCACGTAGGTTGCCCCACATGCCCTTGGCACAGGAAGAAAAGCCTCTGGAACAGGTGCTATGGTTGTCTTTAATTCTTTCTCGGCTTTCCATGGAATGAGGAGGAGGCCCAGATGGTACTTCCAGAGCCGAGGAGCAGAACCCGGCCCGGAGGAGCTAGGCCGGCCGTGGTTTGGTCTTGAAGAGAATGAAAGCCCACCCATGTTCACAGATCGCAGAGCCCCAGGGCGTTCAGGCCACACCTGCAGCTGGTGCCTTGGGTGAGGCTAAGGGGCTCACAAGTGCAGGCACACATGCCCAGACGCCTGCTGGGCTCCAAGAGTGCTGGCTGCTGCCCAGCTACCCAGACCCTCCATGTCCTTCCATGCCCTCAGCCCCAACTCTCTTCCTGGGGGTTGTGGAGGGCAGGGGGTGCACAGTTCACTCCAGAACCTTCCTAAGACCCAGAGCTGTAGTGGGGAGGGTTGTGAACACCAGTTTCTGAGACCTTTTCAGCCAGGCGGTGGTTCTCGCTCCACACCCTTGGGGGCCCCTGAGCAGGGAGGCCTGGGTGTGCTCACCTAACATTACCCTGTGCTTTGCAGACAGACGGTGCCCTATGGACTGTCCAACTACAGAGGAAGCTTCCGGGGCAAGAGGTCTGCGGGGCCACTTCCAGGGAATCTGCAGCTCTCACATCGGCCACACTTGCGCTGCGCTTGTGTGGGGAGATATGACAAGGCCTGCCTGCACTTTTGCACCCAAACTCTGGACGTCAGCAGGTATGACACCTCCTCCAGTTTCACTCATTTGCAGATATGCATCAACCCTCGGCAAGGCCAGGCCAGGGGCTTCTCAAAGGAGGGTGTAGGATAGTTCAGTCACATCCTGACCTACTGTCGTCCTGTGGGCCAGAGAAAGGAGGTGCTGAGCCCAGAAAAGACCCAGGTCCTCAGCATCAGGAGGGCAGGAGATGCAGCGTCCCCACCCCCTTGCTGCCTTTTGGAACAGAAGCTTCACAGTGGCCGTGGCTACATCTGGTTTCCAGACATATGTTTTTCTGGCCTGCACAGCACTTTGTGAAAATCTGAATAAGTTGCCAACACTTAAAAGATTGAAGAATTAACCCCTGCCAAATGCGTATTTTTAGCCTTCTCGAAAATAGCCCATGATAAGAGTGCAAAAGGCTTATTGGGAGGGGGGGGAACCCAGCACGTAGGACCATCTGGTCTCAGAGCCCCCCTTCTCTTTGGCCACCCTCAGCTGGAACTGAGTGGGGGCATCTCACGTTTGAGTAGGATGTGCAATATCCATTTACCTGTTACCAATTTATCTTACTTTGTAGCCCCTGGAGGCCCCCAAGTTTGAGACCCTGTGGTCTGTCCTGGCTGCCTTAGGGAAGCTTGCAAATCACGTTGAATGGAACCAACAGGCAGACTCCATGTTTGACCCAGGGGCTTTGAGCTGGTATTCACATAACAGGTATTCCTGTTAATGCTCCTTACTCCATCTTTTTCTTAACTTCGGGCCAAGATTCATGAACCCAGTGAGGCAGATTGGCCCTTTCAAAACCCTTCCTGGAGCAGGCGTAGGTGAGCTGCCCTGATGCACACAAAAGACACATAGGCAGGGGTGAGCTCCCAACACCCCAACAAGGCAGACGGTAGCGCTCAGGACCCCAGGATCTGCCGTCTGTGAAACCCAGTGTGAACTGCATGGTTTTTCCCCCCTTCTGGGCTTTTAAACATCCGATGAATAAGTGAGTGGTGAGTATATTCTGTACTTTGGTAGAAATCCACCCACCGAGTGCTCAGCCTTCAGAAACTGTGCCTGAGACGCAGTCCTTGGGGAACGCACTAATGTGCTCATTGGTGGGGAAGAGGAAGTCATAATTTGACACCGAAAAACCAGCCACAGGGAAAGGCAGGTTGATTGATTAAAACCAGCTCTCTCCCCACAGTAATTCAAGGACGGCAGAAAAAACAGACAAAGAAGAGGAAGGGAAGGTGAGAGGTGCCAACAGAGGCCTGTGTCAAAGGAGGTGAAGATGTGACGTGTCATTCCTTCGGGGGTGGGTGGAGGGTGTTTTGAGGGGATGGCATCTGGTCTGGTCCAGTGGGAACCCCAGATCTCATGGGATGCTGCACCCACAAGCAATGGTGCCTTTGGTGGACCGTTTCTGGGGGCAGAGCGGGCTGAAGCTGTGGACAGCTGCTGTCACTTGTCGGTCCCTGGCCACCCTGCTCTGTGTCCTGGGAGCCAGCCCTTGCATCCCTTGTAGCTCTGGGCAGTGATGTCCTGCCTGGATTTCACCTGGCCTGGACAAAGCTAGTCAACCACCGCTCTCAGAGGCCCTGTAGGCTGCTCTGCCCAGACCCACACTTCGCCTCTGCTTCCTTAGCAACATGTGGTCTTTCTCGTCAAAAAAATCATTTATTCTTTTCAGCAGCTGATTCTGGGCAGAGGTGAATTACAGCAGCTTGACAGCAGGGTCCCTTGGTTCTCCAGTTCATTGTATTATTTTTTTTAACCCACTTGTCTTTTTTGTATGAGAGATCCTGAGGGTTTCCTGCAGTCAAACTGGGTTTATTTGTCATTCTATCAATCAGAAGTCATTATTAATGACTCCGCAGCTCATCTGCAATGGGATGGTAATTTATGTTCATAATAATAGCCTGGAGGTGGCTTGGGTTTCTACAGAGACTGATCGAGGGAAGATGAAACCATGCTCAGTATACAGGAGCTTTCCAAATTGGTGGCAGATCGCTTCTAGTCTAGTCCAGAGAGGGATCTGTCAGCAACCATAATAAAAATGGAGCGGGAGGAGGAGGGCCGAGGCGGAAGAGACAGAGCCCGGGAGAGCATGAGTCAGACCCAGATGGTCCCACTTTGCCTCTTCATTCTTTTTCCTCTTTTTCTCTTCCTCACCCCAAACCAAAGCTCCTCTCAGCGAGGGCGGGATGTAATTAAACCCATCCATCCATTGCATCATTTATTCATTCGCTTATGCATTCGTTCAGCAAAGACTTGTTGGGCACCTGCTACGGGCTGGGCACCATTCTCGATGCTGGGGACATAGCAGGAACAAGGCATAGGATCTCTTTTATAGAGCTTAACTAGTGGGGATGCAGACAGCAAACATGTACAATTTAAAGTGAGATTGCAAAGAATAACAGAAAGACACGGCAAGGGTAGGAAGCGTGGGGTGGTTGCAGTTTGAGATGGGGTTGACGTGGCCTCATCTTTCTCACCAGGTGACCTGAAGGAAGGCTGGGAGGAGCCATAGGGATGAGTGAGGGAAAGGGATTTCAGGTAGGGGAACCGGTGAGTGCAAACGCCCTAGAGTGTGCTCAGGGAACGGCCAGAAGGGAGCCCTATATAGGAGAAGCACACCGGTCCTTTTGCTGTTGTGGTGATTATTACTGTTCTATGTCACATGTTCAAAAGATGCAATTGGTGGTGCAGATGTCCCAGCAGGGCCTGGAAAAGTGGTTCTTCCAGGTCTCTATGAGTCATGTAAAGCTCTAGTAAGAAGCTTTACTTGGGAAGAAAAAGTCTCTTATTAAGCCAATGTTCTTGCTTTCTTGCAAGATTCAAGTTAGTAATTCCCAGATTCACATTCTCAGAGTGGAAGCTGTCACCATCCTTAGCTTGTGGTAATCAAAGATGGGGCCAGGCTGCGGGAGGGCCCCTAGCAGCCTTGTCTGCTGGTGTTATTCTTTTCACACTTTTCCAGTCTGGTGGTAGGCTCGGAAATTGCTGAGAAGCACTGGGAAGAGGGTACATACAGTTCCAATCAGGGAACAGGCTGGAGAGGCAGTGGGAAGACGTTCCCTTTTTCAGCTTCACAGAACTACAGAGCTACACTTTCATAACATACCTTTCTTTTTTTTTCTTTTGCCCCCTTTCCCCAAGACAGGTTGAAGTCAAGGACCAACAAAGCAAGCAGGCTTTAGACCTCCACCATCCAAAGCTCATGCCCGGCAGTGGACTCGCCCTCGCTCCATCTACCTGCCCCCGCTGC
|
CTGTGCACATGGAAGAAATTCAGTCAGAAACCTCAGGTCTGGCCTCAGGCTGCGGGGTAGGCAGGTGATCTGATCAGGGCGAAGACCCAGACCAGCACGTAGGTTGCCCCACATGCCCTTGGCACAGGAAGAAAAGCCTCTGGAACAGGTGCTATGGTTGTCTTTAATTCTTTCTCGGCTTTCCATGGAATGAGGAGGAGGCCCAGATGGTACTTCCAGAGCCGAGGAGCAGAACCCGGCCCGGAGGAGCTAGGCCGGCCGTGGTTTGGTCTTGAAGAGAATGAAAGCCCACCCATGTTCACAGATCGCAGAGCCCCAGGGCGTTCAGGCCACACCTGCAGCTGGTGCCTTGGGTGAGGCTAAGGGGCTCACAAGTGCAGGCACACATGCCCAGACGCCTGCTGGGCTCCAAGAGTGCTGGCTGCTGCCCAGCTACCCAGACCCTCCATGTCCTTCCATGCCCTCAGCCCCAACTCTCTTCCTGGGGGTTGTGGAGGGCAGGGGGTGCACAGTTCACTCCAGAACCTTCCTAAGACCCAGAGCTGTAGTGGGGAGGGTTGTGAACACCAGTTTCTGAGACCTTTTCAGCCAGGCGGTGGTTCTCGCTCCACACCCTTGGGGGCCCCTGAGCAGGGAGGCCTGGGTGTGCTCACCTAACATTACCCTGTGCTTTGCAGACAGACGGTGCCCTATGGACTGTCCAACTACAGAGGAAGCTTCCGGGGCAAGAGGTCTGCGGGGCCACTTCCAGGGAATCTGCAGCTCTCACATCGGCCACACTTGCGCTGCGCTTGTGTGGGGAGATATGACAAGGCCTGCCTGCACTTTTGCACCCAAACTCTGGACGTCAGCAGGTATGACACCTCCTCCAGTTTCACTCATTTGCAGATATGCATCAACCCTCGGCAAGGCCAGGCCAGGGGCTTCTCAAAGGAGGGTGTAGGATAGTTCAGTCACATCCTGACCTACTGTCGTCCTGTGGGCCAGAGAAAGGAGGTGCTGAGCCCAGAAAAGACCCAGGTCCTCAGCATCAGGAGGGCAGGAGATGCAGCGTCCCCACCCCCTTGCTGCCTTTTGGAACAGAAGCTTCACAGTGGCCGTGGCTACATCTGGTTTCCAGACATATGTTTTTCTGGCCTGCACAGCACTTTGTGAAAATCTGAATAAGTTGCCAACACTTAAAAGATTGAAGAATTAACCCCTGCCAAATGCGTATTTTTAGCCTTCTCGAAAATAGCCCATGATAAGAGTGCAAAAGGCTTATTGGGAGGGGGGGGAACCCAGCACGTAGGACCATCTGGTCTCAGAGCCCCCCTTCTCTTTGGCCACCCTCAGCTGGAACTGAGTGGGGGCATCTCACGTTTGAGTAGGATGTGCAATATCCATTTACCTGTTACCAATTTATCTTACTTTGTAGCCCCTGGAGGCCCCCAAGTTTGAGACCCTGTGGTCTGTCCTGGCTGCCTTAGGGAAGCTTGCAAATCACGTTGAATGGAACCAACAGGCAGACTCCATGTTTGACCCAGGGGCTTTGAGCTGGTATTCACATAACAGGTATTCCTGTTAATGCTCCTTACTCCATCTTTTTCTTAACTTCGGGCCAAGATTCATGAACCCAGTGAGGCAGATTGGCCCTTTCAAAACCCTTCCTGGAGCAGGCGTAGGTGAGCTGCCCTGATGCACACAAAAGACACATAGGCAGGGGTGAGCTCCCAACACCCCAACAAGGCAGACGGTAGCGCTCAGGACCCCAGGATCTGCCGTCTGTGAAACCCAGTGTGAACTGCATGGTTTTTCCCCCCTTCTGGGCTTTTAAACATCCGATGAATAAGTGAGTGGTGAGTATATTCTGTACTTTGGTAGAAATCCACCCACCGAGTGCTCAGCCTTCAGAAACTGTGCCTGAGACGCAGTCCTTGGGGAACGCACTAATGTGCTCATTGGTGGGGAAGAGGAAGTCATAATTTGACACCGAAAAACCAGCCACAGGGAAAGGCAGGTTGATTGATTAAAACCAGCTCTCTCCCCACAGTAATTCAAGGACGGCAGAAAAAAACAGACAAAGAAGAGGAAGGGAAGGTGAGAGGTGCCAACAGAGGCCTGTGTCAAAGGAGGTGAAGATGTGACGTGTCATTCCTTCGGGGGTGGGTGGAGGGTGTTTTGAGGGGATGGCATCTGGTCTGGTCCAGTGGGAACCCCAGATCTCATGGGATGCTGCACCCACAAGCAATGGTGCCTTTGGTGGACCGTTTCTGGGGGCAGAGCGGGCTGAAGCTGTGGACAGCTGCTGTCACTTGTCGGTCCCTGGCCACCCTGCTCTGTGTCCTGGGAGCCAGCCCTTGCATCCCTTGTAGCTCTGGGCAGTGATGTCCTGCCTGGATTTCACCTGGCCTGGACAAAGCTAGTCAACCACCGCTCTCAGAGGCCCTGTAGGCTGCTCTGCCCAGACCCACACTTCGCCTCTGCTTCCTTAGCAACATGTGGTCTTTCTCGTCAAAAAAATCATTTATTCTTTTCAGCAGCTGATTCTGGGCAGAGGTGAATTACAGCAGCTTGACAGCAGGGTCCCTTGGTTCTCCAGTTCATTGTATTATTTTTTTTAACCCACTTGTCTTTTTTGTATGAGAGATCCTGAGGGTTTCCTGCAGTCAAACTGGGTTTATTTGTCATTCTATCAATCAGAAGTCATTATTAATGACTCCGCAGCTCATCTGCAATGGGATGGTAATTTATGTTCATAATAATAGCCTGGAGGTGGCTTGGGTTTCTACAGAGACTGATCGAGGGAAGATGAAACCATGCTCAGTATACAGGAGCTTTCCAAATTGGTGGCAGATCGCTTCTAGTCTAGTCCAGAGAGGGATCTGTCAGCAACCATAATAAAAATGGAGCGGGAGGAGGAGGGCCGAGGCGGAAGAGACAGAGCCCGGGAGAGCATGAGTCAGACCCAGATGGTCCCACTTTGCCTCTTCATTCTTTTTCCTCTTTTTCTCTTCCTCACCCCAAACCAAAGCTCCTCTCAGCGAGGGCGGGATGTAATTAAACCCATCCATCCATTGCATCATTTATTCATTCGCTTATGCATTCGTTCAGCAAAGACTTGTTGGGCACCTGCTACGGGCTGGGCACCATTCTCGATGCTGGGGACATAGCAGGAACAAGGCATAGGATCTCTTTTATAGAGCTTAACTAGTGGGGATGCAGACAGCAAACATGTACAATTTAAAGTGAGATTGCAAAGAATAACAGAAAGACACGGCAAGGGTAGGAAGCGTGGGGTGGTTGCAGTTTGAGATGGGGTTGACGTGGCCTCATCTTTCTCACCAGGTGACCTGAAGGAAGGCTGGGAGGAGCCATAGGGATGAGTGAGGGAAAGGGATTTCAGGTAGGGGAACCGGTGAGTGCAAACGCCCTAGAGTGTGCTCAGGGAACGGCCAGAAGGGAGCCCTATATAGGAGAAGCACACCGGTCCTTTTGCTGTTGTGGTGATTATTACTGTTCTATGTCACATGTTCAAAAGATGCAATTGGTGGTGCAGATGTCCCAGCAGGGCCTGGAAAAGTGGTTCTTCCAGGTCTCTATGAGTCATGTAAAGCTCTAGTAAGAAGCTTTACTTGGGAAGAAAAAGTCTCTTATTAAGCCAATGTTCTTGCTTTCTTGCAAGATTCAAGTTAGTAATTCCCAGATTCACATTCTCAGAGTGGAAGCTGTCACCATCCTTAGCTTGTGGTAATCAAAGATGGGGCCAGGCTGCGGGAGGGCCCCTAGCAGCCTTGTCTGCTGGTGTTATTCTTTTCACACTTTTCCAGTCTGGTGGTAGGCTCGGAAATTGCTGAGAAGCACTGGGAAGAGGGTACATACAGTTCCAATCAGGGAACAGGCTGGAGAGGCAGTGGGAAGACGTTCCCTTTTTCAGCTTCACAGAACTACAGAGCTACACTTTCATAACATACCTTTCTTTTTTTTTCTTTTGCCCCCTTTCCCCAAGACAGGTTGAAGTCAAGGACCAACAAAGCAAGCAGGCTTTAGACCTCCACCATCCAAAGCTCATGCCCGGCAGTGGACTCGCCCTCGCTCCATCTACCTGCCCCCGCTG
|
benign
| 315,240 |
Considering the genetic mutation at chromosome 20, position 62291699, impacting OSBPL2 (oxysterol binding protein like 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
benign
|
CCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCCAAGGTCAGGAGTTCGAAACCATCCTGGCCAACAAGGCAAAACTCCATCTCTACTAAAAATACAAGAGATTAGGCGGTCATGGTGGCGCCCGACTGTAATCCCAGCTTCTAGGGAGGCTGAGGCATGAGAATCGCTTGTACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTATACCACTGCACTCCAGCCAGGGCGACAGAGTGAGACCCTGCCTCACAAACAAACAACAACAACAAAAAACACAAACAAAAAACAAAGTACAAGTTCCTAATTTGTTATTATTAAATTAAACAAAAGTTAAGATTACATTTAGAAAACTGCACGTGTTCCACTGTGAGGATCCGTGTAGCCATCAGTGCAGTCACTGGCACGTGTGTGGCGTGTCCTGCAGCCTCACACTCTCCCGGTGGGCTCTGTGCTTGCAGCGTTCATCTGTAACATGGCAGATGAACAACTTTCTCACTCACTCATCTAGATGGAATCCGCAGTGAAACTCCTGGCTGAGGAGGCAAATCCAAAGTGTCCTGGGTTTTGAGTTAGTAATGTTTTATTTATTTATGTTTAGAGTCGGGATCTCACTCTGTAGCCCAGGCTGGACTATAGTGGTGTGATCTTGGCTCACTGCAGCCTCAACCTCCCAGGTTCAAGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGTGCATGCCACTACACCTGGCTAATTTTTTGGGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACGCTGTTCCCCAGGCTGGAGGGCAGTGGTGCGATCTCGGTTCACTGCAAGCTCCGCCTTCTGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCCGAGTAGCTGGGACTACAGGTGCCCCTGCCACCACGCCCGGTTAATTTTTTGTATATTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGACGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAACCACTGTGCCTGGCCAGGTTTTTTTTTTTGTTTTTTTTGTTTTTTTTTTTTGAGACAGAGTTTCACACTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCTCACAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCCAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGCCTGGTCTCAAACTGCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCTAAAGTGCTGGGATGACACTGTGCCTGGCCTAATTTTTGTATTTTTTATAGAGATGGGGTTTTGCCATGTTGCCCGGGCTGGTTGCCAACTCTTGGGTTCAAGCGATCCGCCTGCTTCAGCCCTCCTAAGTGCTGGGATGCAGGCATGAGCCACCGCGCCCAGCTTGAATTAGTGATGTTTTCAGAGAGAAACCCAGCTCACGAGTGTGACCTGGGAATGGATGTAACTTCTCATGCTTTGTATTCAGAATGTGTGCCCAGTCCTTCACAGAAGCCACATGGCAGTTACCCGGGAAGGTCAAGGCTAAAGGGAGCTCGTCTTTGGGAGATGGGCTCTGAGTTGCACAGGTGGGGCTGGCTCCCCGTCCTGAGCGCCTGCTCGCACACCAGGGCATTGGGTGGTGCCTGGGCCCTGCCTGTCCTTCAGACTCCTGCACCCGCAGACTTTGAGTAGTGCTGTCGTAGAACACGCAGCACATGCAGCCCCCATGCTCTACTCAGCTCCGCTTGGGAAGGGCCCTGTTGGCGTGCCGGCCGCTGTGGCCTCGGCAACTGTGATTGTGTTTGGTCTCCCGATCACAGAACCTGTTGTCTGTGGCATTCCAGCCACAGTGAGACATGCCAACTAGAGATCTAGGTGCATAGGGGGTGGCGGGGTGCGGTTCTAAGGTCTCTGTCTGACCTAAACTGTTTGCTTGGATCCTAGATCTGGCCAGCCAGGAGAAGGAGCGGCTGGAGGAGAAGCAGAGAGAAGCACGGAGGGAGCGGGCCAAGGAGGAGGCAGAGTGGCAGACGAGGTGAGTACTGTGGTAGCCACGCAGGCTGGGGCAGCGGGGAGGCCCCACACACACCTGGGGACGGCGGGGAGGCCCCACACACACCTGGGGACGGCGGGGAGGCCCCACACACACCTGGGGACGGCGGGGAGTGCCTTCTCTCACCCCCACACCCCTGTGGCTGGGCAGTTACTGTTCCATGGCTCCATTAAGGTAGTGACACCAGTGGCTGCCCCTGACCCATGTGGTTCCCACTGCCCAGGTAAGAGCCCATCCTAGCTTAGCGCACACTTTGCCGAGACCACCCGGCTGGGGGTGGCCTGTGCAGAGTGCCTGTCACCTCAGACCCGGGTCTACTGCCGGGCCTCATGGTGTGTTGGCCCAAAGCTTTCTTTTCAACTGTGGCAAAGTTAAAGAGAAAATGTTGCCTGAATGTGACTGCTCCCTTTAGGAAAACACAGCTGGTGAGTGTATGGGTGAGGTCCCCCAGGGGCCACAGCCCGTGTGTAGGGAGGTGGCACCGTGTGGAGGCCACGCCTGTCACACCGATACCACATCTTCCTGTCAGTGCCACTCAGGCTGATCTTCACCCCATGACCCAGAAAGGTTTTGTGAAAATTAAATCCCGTGTGCTGTGCCGTGGCGTCTGTGCACATGGAGGCTGGGACGGTGGCATGGGCTGCGTGGGCCTCACAGAAGCATCAGCTGCTGGGACATGATTCCTGTTTCTGTAACTGTCCTAAGCTGGCTGTAGTTTGTTCTATAATAGTCATAAGAGAAAAGAACCATTGAATAAGGATTCAATCAATAATGTACTGTAATAAGTATAATTTAAAAATGTATTTATAAGTAAAATGTTTTAGTTTGTTAGAAAAATCTTTGGGTGTTTGTGAAGCATCTTAATTCTGTAGGCCACCTGCTTGGTAGGATTCGTTCTCAAGGCCCAACAACAATGATACCCGGTGGCTTACATGTGGCTGGCGTTTTGAAACCAATTCTCACTGTTTGGGCTTCCAATTTAATTTGATACTAGGCTTTGAATGGTTTGATATTTGGAATTTGCCCTTAATCCAGAGAAAAATCAGCTTCAAAATAGTTAACCTTTCCTCATTTTTTTTTTTTTTTGTTGTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCCCTCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCTGGCTAATTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCGTGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCCAGCCTCCCAAAGTGCTGGAATTACGGGCGTGAGCCACCGCGCCCGGCCTGTTCATTGTTTTTTTAAAGTGTTAAAAAAAATATACTGTGAAAATAATGATCTTTTGTCCTTCGAAGAAAATGTCTTCTCCTTTGTGAGCGCTGCCCCCACCCCACCCCCAACACTAAGGACACCCCTCGGGCCCTGAGTGCCAGCCGGGGGCTGTGGACGGCGGCTGAACCAGCGCCAACACTCAGGCCCTGTGCTACCTTCTCTTTGCCTATAATGTCTTCCTTTGTCCTCAGTTAAAAAAACCAATACTTGGTTTGCTTTAAATGACAGCACATGTGAACAGTGTAACTGCTTTTGCCTTGAAAAGGGAGAGGCATTATTTAGGCTCCAGTAACTTCTCTGATAAGGGCCCAGTGTGAGGATTTTGTGTTGAGTTAAACCCTCAAGATTTTGTTGGGAAGTGAAATTGACACGGGTGGCTGGATATCTTTAGGTTCCAGCATTCACATGACCACGTGATCAATAATTCTCCGTTGAAGTTGTTACGCTGGGCTGCATTTTAAAACCCACGTTACCGTGATGGTGCTGAGTTGGGGGAACACACTCCTGCACCCAGAACAGGGCTGCGTTTTCCTTTTGGG
|
CCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCCAAGGTCAGGAGTTCGAAACCATCCTGGCCAACAAGGCAAAACTCCATCTCTACTAAAAATACAAGAGATTAGGCGGTCATGGTGGCGCCCGACTGTAATCCCAGCTTCTAGGGAGGCTGAGGCATGAGAATCGCTTGTACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTATACCACTGCACTCCAGCCAGGGCGACAGAGTGAGACCCTGCCTCACAAACAAACAACAACAACAAAAAACACAAACAAAAAACAAAGTACAAGTTCCTAATTTGTTATTATTAAATTAAACAAAAGTTAAGATTACATTTAGAAAACTGCACGTGTTCCACTGTGAGGATCCGTGTAGCCATCAGTGCAGTCACTGGCACGTGTGTGGCGTGTCCTGCAGCCTCACACTCTCCCGGTGGGCTCTGTGCTTGCAGCGTTCATCTGTAACATGGCAGATGAACAACTTTCTCACTCACTCATCTAGATGGAATCCGCAGTGAAACTCCTGGCTGAGGAGGCAAATCCAAAGTGTCCTGGGTTTTGAGTTAGTAATGTTTTATTTATTTATGTTTAGAGTCGGGATCTCACTCTGTAGCCCAGGCTGGACTATAGTGGTGTGATCTTGGCTCACTGCAGCCTCAACCTCCCAGGTTCAAGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGTGCATGCCACTACACCTGGCTAATTTTTTGGGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACGCTGTTCCCCAGGCTGGAGGGCAGTGGTGCGATCTCGGTTCACTGCAAGCTCCGCCTTCTGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCCGAGTAGCTGGGACTACAGGTGCCCCTGCCACCACGCCCGGTTAATTTTTTGTATATTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGACGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAACCACTGTGCCTGGCCAGGTTTTTTTTTTTGTTTTTTTTGTTTTTTTTTTTTGAGACAGAGTTTCACACTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCTCACAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCCAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGCCTGGTCTCAAACTGCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCTAAAGTGCTGGGATGACACTGTGCCTGGCCTAATTTTTGTATTTTTTATAGAGATGGGGTTTTGCCATGTTGCCCGGGCTGGTTGCCAACTCTTGGGTTCAAGCGATCCGCCTGCTTCAGCCCTCCTAAGTGCTGGGATGCAGGCATGAGCCACCGCGCCCAGCTTGAATTAGTGATGTTTTCAGAGAGAAACCCAGCTCACGAGTGTGACCTGGGAATGGATGTAACTTCTCATGCTTTGTATTCAGAATGTGTGCCCAGTCCTTCACAGAAGCCACATGGCAGTTACCCGGGAAGGTCAAGGCTAAAGGGAGCTCGTCTTTGGGAGATGGGCTCTGAGTTGCACAGGTGGGGCTGGCTCCCCGTCCTGAGCGCCTGCTCGCACACCAGGGCATTGGGTGGTGCCTGGGCCCTGCCTGTCCTTCAGACTCCTGCACCCGCAGACTTTGAGTAGTGCTGTCGTAGAACACGCAGCACATGCAGCCCCCATGCTCTACTCAGCTCCGCTTGGGAAGGGCCCTGTTGGCGTGCCGGCCGCTGTGGCCTCGGCAACTGTGATTGTGTTTGGTCTCCCGATCACAGAACCTGTTGTCTGTGGCATTCCAGCCACAGTGAGACATGCCAACTAGAGATCTAGGTGCATAGGGGGTGGCGGGGTGCGGTTCTAAGGTCTCTGTCTGACCTAAACTGTTTGCTTGGATCCAGATCTGGCCAGCCAGGAGAAGGAGCGGCTGGAGGAGAAGCAGAGAGAAGCACGGAGGGAGCGGGCCAAGGAGGAGGCAGAGTGGCAGACGAGGTGAGTACTGTGGTAGCCACGCAGGCTGGGGCAGCGGGGAGGCCCCACACACACCTGGGGACGGCGGGGAGGCCCCACACACACCTGGGGACGGCGGGGAGGCCCCACACACACCTGGGGACGGCGGGGAGTGCCTTCTCTCACCCCCACACCCCTGTGGCTGGGCAGTTACTGTTCCATGGCTCCATTAAGGTAGTGACACCAGTGGCTGCCCCTGACCCATGTGGTTCCCACTGCCCAGGTAAGAGCCCATCCTAGCTTAGCGCACACTTTGCCGAGACCACCCGGCTGGGGGTGGCCTGTGCAGAGTGCCTGTCACCTCAGACCCGGGTCTACTGCCGGGCCTCATGGTGTGTTGGCCCAAAGCTTTCTTTTCAACTGTGGCAAAGTTAAAGAGAAAATGTTGCCTGAATGTGACTGCTCCCTTTAGGAAAACACAGCTGGTGAGTGTATGGGTGAGGTCCCCCAGGGGCCACAGCCCGTGTGTAGGGAGGTGGCACCGTGTGGAGGCCACGCCTGTCACACCGATACCACATCTTCCTGTCAGTGCCACTCAGGCTGATCTTCACCCCATGACCCAGAAAGGTTTTGTGAAAATTAAATCCCGTGTGCTGTGCCGTGGCGTCTGTGCACATGGAGGCTGGGACGGTGGCATGGGCTGCGTGGGCCTCACAGAAGCATCAGCTGCTGGGACATGATTCCTGTTTCTGTAACTGTCCTAAGCTGGCTGTAGTTTGTTCTATAATAGTCATAAGAGAAAAGAACCATTGAATAAGGATTCAATCAATAATGTACTGTAATAAGTATAATTTAAAAATGTATTTATAAGTAAAATGTTTTAGTTTGTTAGAAAAATCTTTGGGTGTTTGTGAAGCATCTTAATTCTGTAGGCCACCTGCTTGGTAGGATTCGTTCTCAAGGCCCAACAACAATGATACCCGGTGGCTTACATGTGGCTGGCGTTTTGAAACCAATTCTCACTGTTTGGGCTTCCAATTTAATTTGATACTAGGCTTTGAATGGTTTGATATTTGGAATTTGCCCTTAATCCAGAGAAAAATCAGCTTCAAAATAGTTAACCTTTCCTCATTTTTTTTTTTTTTTGTTGTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCCCTCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCTGGCTAATTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCGTGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCCAGCCTCCCAAAGTGCTGGAATTACGGGCGTGAGCCACCGCGCCCGGCCTGTTCATTGTTTTTTTAAAGTGTTAAAAAAAATATACTGTGAAAATAATGATCTTTTGTCCTTCGAAGAAAATGTCTTCTCCTTTGTGAGCGCTGCCCCCACCCCACCCCCAACACTAAGGACACCCCTCGGGCCCTGAGTGCCAGCCGGGGGCTGTGGACGGCGGCTGAACCAGCGCCAACACTCAGGCCCTGTGCTACCTTCTCTTTGCCTATAATGTCTTCCTTTGTCCTCAGTTAAAAAAACCAATACTTGGTTTGCTTTAAATGACAGCACATGTGAACAGTGTAACTGCTTTTGCCTTGAAAAGGGAGAGGCATTATTTAGGCTCCAGTAACTTCTCTGATAAGGGCCCAGTGTGAGGATTTTGTGTTGAGTTAAACCCTCAAGATTTTGTTGGGAAGTGAAATTGACACGGGTGGCTGGATATCTTTAGGTTCCAGCATTCACATGACCACGTGATCAATAATTCTCCGTTGAAGTTGTTACGCTGGGCTGCATTTTAAAACCCACGTTACCGTGATGGTGCTGAGTTGGGGGAACACACTCCTGCACCCAGAACAGGGCTGCGTTTTCCTTTTGGGN
|
benign
| 315,357 |
Gene mutation in LAMA5 (laminin subunit alpha 5) at chromosome 20, position 62320547—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
benign
|
GGCCTCCCGTGTGGCGTCCACTGCCCGGTTCAAAGCCTCTCGCAGGTCCATGAGGCCGGCCTCGTGCTGGGCCAGCCGGTCGCGGGTTTGTGTGGCCAGTGCCTGGTTCTCCTCCCAGAGGCTGCTCAGCTGCTCCTGCACCCGGGCCAGCACTAGCCGAGACCAGGGTGAGGGTGGTCACTCTGGAAGCCAGGCCCCTTCATGACCCCTGGTCTCCACTTGGTGCCCGCCAGATCCATCTGCCCCGTGATGCCCACCTGATGCCACTCCATGCTGACCTCCCCCTTGGAGCTCCCAGGTCCCTGCCTCTCCCCACCCCGCCTGCCAGGGACAACACCACTCACATCTCTGTGCTGCAGCCAACTCAGCCTCAGCTGCTGCCTGCGGGGCCCCCAGGTCCCGGGCCCGCATCTCCCAGAGCAGCCGCTCCACCTCGGCCAGTGTCCGGAGCAGCTGCTCACCTGATGGAGCCGAGGCATTGGCCAGCCCCAGGTGGCCCGTCTGGGACATGAGCTCTGTGGGGCAGGGGTTCGTCAGAGCCTGGGGCCGCCCGTACTAGTGCACCTCTGCCTGCTGGCTTCCAAGCCCAAGACCCCAGCCCTGCCATCCTTGGCAGGCCAGGGGCCCGGAACCTGAGCGCACCTGGGTGGCCCCTAGAGCACCTGGCGAAAGGCCACAGCTGCCTCACCTGCCCGGCCCTCACCTCCTGCAGTGCCTCCAACACCCTGACACCAGTCTGCTCAGCCAGCTTCTGAGCCTTCTCGTCCTGCCCCTCTCCGCCTGGCCCACCCTGCTCCCTGGCCAGCTCTCTCTGACATGGCACCCCCTGCCGACCCCCAGGCTGGGCTGGCAGGTCCTGTTAGGCAGGCTCAGGGAGCCAAATCTCTCCTGAGTCCCATGTCTCAGTGTGCACTACGGGATATCTGTGAGCGCGAACATCTAACCGGCACATTTCCTGGGGAGGCTGTCGAGGGGTCTGACGTCTCCCGGGGCCACCTGTCTGGCCACACGGCTGTGTCGCCGACCTCCTGACCCTGCCCTACTGTTCACTCCAGAGGCGTCGTCTCCCATCTAAAAGACAGATCCTGCCTGTTCTTCCAGGCCAAGCTCGGCCAGGCACCCCCACCCCTACCCCAGGCAGCCCTCCTGGCTCTGAGCCCTGAGCCTGGCTGGGCTGGCCCCTACCGCTCAGGGTGCGGTCCACAGCCCGGATGGCCGCCAACAGCGTCTTCGCATGGCCCAGTGTGGCCTCGGTGCCGGCCAGCAATTGGCTCGCCTGGTCTCGGGTCCCCACGGCCTGTGGAGGAAGAGCCCACTAGCCCACGCTGCTGGTAGGCGAGGGTCGGGGTGGCAAGGGAGGGCCTGGGGTCTGGGGGAGCGCCGAGGGTCCCAGGGAAGAGGGGCCCCTTATCTATTTAACTCTCTTATCTGATGACTTGTTATTTATCACTTGTTAGTTACCTAAAATTATTGGTTATAACTTGCCATTTGTTATTTCCTGTCAATTTAATGAAATAGTTACTCATTAAGACATTTGAGGCCGGCCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTGTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTATGGTAAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGACATTTGAGTGATATTATACACTGTAAACAAATGTATTAGGTAGTTTAGATAGTAATTCAGTGACTTGGTCAACCCCTAAGACTCTCGAGCTCCTGTCCCCTGCACTGACACATGTACGAGGCATGAAGTAACATCTGCTGAATGAGGACAAGCGAACCGCGGGGAACACAGGTGAAAGCCTCCCGGGGCCCTGGGGGGTCTTGGGGCTCCTGCCTGGCCGCCTAGCCGCCGTGCGTCCTGCCCGAGGCTTGTGCTCTGCTGCTCCAGCACCTCCAGCTGCTGTGCCGTCTCATGGCGGGGGCCCAGGGGGCTCCGGAGCTGGCTCTGTGGGAGGCGAAAGGTGAAGGCCTGCACTGGCCCGGGTTGGGGAGGGAAGGCCAGGACGCTCAGTACCTGCAGGTCAGCGATGGAGGCGTTCAGCCTGTGCAGACGGGCCCAGGCCATGGAGCTGGCATTGATGCCACGCAGTTGCTCGTGAATGGCGGGGAGGAGGGCGCCGGCCCGTTCCAGGTCATCCAGGAGCAGGACCACACAGTGGTCACACACTGCAGGCGATGTGGGGTCACAGGTCAGTGTCATTGGGTCAGGCCAGGGGAGAATGATCAGCTGGGGCCCTGGGGTCATTAGGGTGGGGAGGGCTCAGCCAGAGGTCATGAGGTCAGCTTAGGGACACAGGACCTGTGGGGAGGTCCCAGAGTTCTGGCAGAGTCATAGGGTCAGGTAGGAGTCAGATGGGAGTGAAGGGCATGGGGTCACCCAGGGAGAAGGTAGGGCCAGCACAAGGGGTTGGGGCCGGAGGTGGGGCCAGTGAAGGGGCGGGGCCGGTGGAGGCAGGGTCAGTGAAGGGGTGGGGCCAGTGGAGGAAGAGGGGGCCAGTGGAGGAGGCGGGGCCTGTGGAGGGGTGGGGCCAGTGGAGGCAGGGTCAGTGAAGGGGTGGGGCCGGTGGAGGAAGAGGGGGCCAGTGAAGGTGTGGGGCCAGTGGAGGAGGTGCAGCCAGTGGAAGAGGTGGGGCCAGTGGGGGTGGGGTCAGTGGAGGGGTGGGGTCAGAGGACGGGTGGGTTCAGAGGACGGGTAGGGTCAGTGGAGGGGTAGGGCCAGCAGAGGGGTAGGGCCAGCAGAGGGGTGGGGTCAGTGGAGGGGTGGGGTCAGTGGAGGGGTGGGGTCAGTGGAGGCAGGGTCAGTGAAAGGGTGGCGCCAGTGGAGGAAGAGGGGGCCAGTGGAGGCAGGGCCTGTGGAGGGGTGGGGCCAGTGGAGGTGGGGTCAGTGAAGGGGTGGGGCCAGCGGAGGAGGTGCAGCCAGTGGAAGAGGTGGGGCCAATGGGGGTGGGGTCAGTGGAGGGGTGGGGTCAGTGGGGGAGGCAGGGCCAGCAGAGGGGTGGGGTCAGTGGAGGGGTGGGGCCAGTGGAGGGGTGGGGTCAGTGGGGGAGGAAGGGCCAGCAGATGGGGTGGGGCCAGGGCACACAGGAAGGCTAGGGACAGTAGAGGGGTGCAGCCAGCAGTGGAGCTGCAGCGCTCCTCAGCGTGGTTGGAGTTGGACAGGCATGGGTCTCTCGGGAAATGGAAGGCAGCTGGGACCACTCTGGGAGGTCGACGTTAACACTGGGGTCACCAGGCTGTGTGGGACTTGGATTCCTACTCCATCAGGTGTGGGGAAGTGGGGTGTTGAGGACACACCTTCACAGTGGATGCTGTGGCCCACAGGCCCGCCTGGAACAGGCACCTGATGCTGCTGGCTGCAGGTGTCGCAGCGCTCCCCGCTGAGCCCCGGGGGGCAGTTGCAGCGGCCCGTGTGAGGGTCACAGCGGCCCCCAGGGCACTGGCAGCCTGTGGTGGGGGGCTTGGGTGAGCATGGCTGGCCTGGGACCTTGGAGCGTACCCCACTCAGAAGTCCCCATCCGCCCTCCTGTGACCGGCCAGCACTCACGCCTGCAGCCCTGCTCAGGGAGCCCCCAGTAGCCAGGGGCACACTCGCGGCACTGGGGTCCCATGGTCCCTGGTCGGCAGTGGCACTGTCCGCTCTGGGGGTGGCACTCGGAGCCCTCGGCGGCCGGTCCACAAGCACACGGGCGGCAGCCCCCGCAGCCATCGAAACCAAAATGTCCCTCCTGTGGCACAGGCTGGTCACTGCCCTGCCCAGCCCTCAAGACTGTCCCAGACCAACCTGGAAGCCAGGGGTCCTGCCCATCTGGCCCCACCCCCTGAGGCTCTGCCCATCAAACACTGCCCCTCAGCCCCACCTATCAGATTCTC
|
GGCCTCCCGTGTGGCGTCCACTGCCCGGTTCAAAGCCTCTCGCAGGTCCATGAGGCCGGCCTCGTGCTGGGCCAGCCGGTCGCGGGTTTGTGTGGCCAGTGCCTGGTTCTCCTCCCAGAGGCTGCTCAGCTGCTCCTGCACCCGGGCCAGCACTAGCCGAGACCAGGGTGAGGGTGGTCACTCTGGAAGCCAGGCCCCTTCATGACCCCTGGTCTCCACTTGGTGCCCGCCAGATCCATCTGCCCCGTGATGCCCACCTGATGCCACTCCATGCTGACCTCCCCCTTGGAGCTCCCAGGTCCCTGCCTCTCCCCACCCCGCCTGCCAGGGACAACACCACTCACATCTCTGTGCTGCAGCCAACTCAGCCTCAGCTGCTGCCTGCGGGGCCCCCAGGTCCCGGGCCCGCATCTCCCAGAGCAGCCGCTCCACCTCGGCCAGTGTCCGGAGCAGCTGCTCACCTGATGGAGCCGAGGCATTGGCCAGCCCCAGGTGGCCCGTCTGGGACATGAGCTCTGTGGGGCAGGGGTTCGTCAGAGCCTGGGGCCGCCCGTACTAGTGCACCTCTGCCTGCTGGCTTCCAAGCCCAAGACCCCAGCCCTGCCATCCTTGGCAGGCCAGGGGCCCGGAACCTGAGCGCACCTGGGTGGCCCCTAGAGCACCTGGCGAAAGGCCACAGCTGCCTCACCTGCCCGGCCCTCACCTCCTGCAGTGCCTCCAACACCCTGACACCAGTCTGCTCAGCCAGCTTCTGAGCCTTCTCGTCCTGCCCCTCTCCGCCTGGCCCACCCTGCTCCCTGGCCAGCTCTCTCTGACATGGCACCCCCTGCCGACCCCCAGGCTGGGCTGGCAGGTCCTGTTAGGCAGGCTCAGGGAGCCAAATCTCTCCTGAGTCCCATGTCTCAGTGTGCACTACGGGATATCTGTGAGCGCGAACATCTAACCGGCACATTTCCTGGGGAGGCTGTCGAGGGGTCTGACGTCTCCCGGGGCCACCTGTCTGGCCACACGGCTGTGTCGCCGACCTCCTGACCCTGCCCTACTGTTCACTCCAGAGGCGTCGTCTCCCATCTAAAAGACAGATCCTGCCTGTTCTTCCAGGCCAAGCTCGGCCAGGCACCCCCACCCCTACCCCAGGCAGCCCTCCTGGCTCTGAGCCCTGAGCCTGGCTGGGCTGGCCCCTACCGCTCAGGGTGCGGTCCACAGCCCGGATGGCCGCCAACAGCGTCTTCGCATGGCCCAGTGTGGCCTCGGTGCCGGCCAGCAATTGGCTCGCCTGGTCTCGGGTCCCCACGGCCTGTGGAGGAAGAGCCCACTAGCCCACGCTGCTGGTAGGCGAGGGTCGGGGTGGCAAGGGAGGGCCTGGGGTCTGGGGGAGCGCCGAGGGTCCCAGGGAAGAGGGGCCCCTTATCTATTTAACTCTCTTATCTGATGACTTGTTATTTATCACTTGTTAGTTACCTAAAATTATTGGTTATAACTTGCCATTTGTTATTTCCTGTCAATTTAATGAAATAGTTACTCATTAAGACATTTGAGGCCGGCCACAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTGTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTATGGTAAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTGTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGACATTTGAGTGATATTATACACTGTAAACAAATGTATTAGGTAGTTTAGATAGTAATTCAGTGACTTGGTCAACCCCTAAGACTCTCGAGCTCCTGTCCCCTGCACTGACACATGTACGAGGCATGAAGTAACATCTGCTGAATGAGGACAAGCGAACCGCGGGGAACACAGGTGAAAGCCTCCCGGGGCCCTGGGGGGTCTTGGGGGCTCCTGCCTGGCCGCCTAGCCGCCGTGCGTCCTGCCCGAGGCTTGTGCTCTGCTGCTCCAGCACCTCCAGCTGCTGTGCCGTCTCATGGCGGGGGCCCAGGGGGCTCCGGAGCTGGCTCTGTGGGAGGCGAAAGGTGAAGGCCTGCACTGGCCCGGGTTGGGGAGGGAAGGCCAGGACGCTCAGTACCTGCAGGTCAGCGATGGAGGCGTTCAGCCTGTGCAGACGGGCCCAGGCCATGGAGCTGGCATTGATGCCACGCAGTTGCTCGTGAATGGCGGGGAGGAGGGCGCCGGCCCGTTCCAGGTCATCCAGGAGCAGGACCACACAGTGGTCACACACTGCAGGCGATGTGGGGTCACAGGTCAGTGTCATTGGGTCAGGCCAGGGGAGAATGATCAGCTGGGGCCCTGGGGTCATTAGGGTGGGGAGGGCTCAGCCAGAGGTCATGAGGTCAGCTTAGGGACACAGGACCTGTGGGGAGGTCCCAGAGTTCTGGCAGAGTCATAGGGTCAGGTAGGAGTCAGATGGGAGTGAAGGGCATGGGGTCACCCAGGGAGAAGGTAGGGCCAGCACAAGGGGTTGGGGCCGGAGGTGGGGCCAGTGAAGGGGCGGGGCCGGTGGAGGCAGGGTCAGTGAAGGGGTGGGGCCAGTGGAGGAAGAGGGGGCCAGTGGAGGAGGCGGGGCCTGTGGAGGGGTGGGGCCAGTGGAGGCAGGGTCAGTGAAGGGGTGGGGCCGGTGGAGGAAGAGGGGGCCAGTGAAGGTGTGGGGCCAGTGGAGGAGGTGCAGCCAGTGGAAGAGGTGGGGCCAGTGGGGGTGGGGTCAGTGGAGGGGTGGGGTCAGAGGACGGGTGGGTTCAGAGGACGGGTAGGGTCAGTGGAGGGGTAGGGCCAGCAGAGGGGTAGGGCCAGCAGAGGGGTGGGGTCAGTGGAGGGGTGGGGTCAGTGGAGGGGTGGGGTCAGTGGAGGCAGGGTCAGTGAAAGGGTGGCGCCAGTGGAGGAAGAGGGGGCCAGTGGAGGCAGGGCCTGTGGAGGGGTGGGGCCAGTGGAGGTGGGGTCAGTGAAGGGGTGGGGCCAGCGGAGGAGGTGCAGCCAGTGGAAGAGGTGGGGCCAATGGGGGTGGGGTCAGTGGAGGGGTGGGGTCAGTGGGGGAGGCAGGGCCAGCAGAGGGGTGGGGTCAGTGGAGGGGTGGGGCCAGTGGAGGGGTGGGGTCAGTGGGGGAGGAAGGGCCAGCAGATGGGGTGGGGCCAGGGCACACAGGAAGGCTAGGGACAGTAGAGGGGTGCAGCCAGCAGTGGAGCTGCAGCGCTCCTCAGCGTGGTTGGAGTTGGACAGGCATGGGTCTCTCGGGAAATGGAAGGCAGCTGGGACCACTCTGGGAGGTCGACGTTAACACTGGGGTCACCAGGCTGTGTGGGACTTGGATTCCTACTCCATCAGGTGTGGGGAAGTGGGGTGTTGAGGACACACCTTCACAGTGGATGCTGTGGCCCACAGGCCCGCCTGGAACAGGCACCTGATGCTGCTGGCTGCAGGTGTCGCAGCGCTCCCCGCTGAGCCCCGGGGGGCAGTTGCAGCGGCCCGTGTGAGGGTCACAGCGGCCCCCAGGGCACTGGCAGCCTGTGGTGGGGGGCTTGGGTGAGCATGGCTGGCCTGGGACCTTGGAGCGTACCCCACTCAGAAGTCCCCATCCGCCCTCCTGTGACCGGCCAGCACTCACGCCTGCAGCCCTGCTCAGGGAGCCCCCAGTAGCCAGGGGCACACTCGCGGCACTGGGGTCCCATGGTCCCTGGTCGGCAGTGGCACTGTCCGCTCTGGGGGTGGCACTCGGAGCCCTCGGCGGCCGGTCCACAAGCACACGGGCGGCAGCCCCCGCAGCCATCGAAACCAAAATGTCCCTCCTGTGGCACAGGCTGGTCACTGCCCTGCCCAGCCCTCAAGACTGTCCCAGACCAACCTGGAAGCCAGGGGTCCTGCCCATCTGGCCCCACCCCCTGAGGCTCTGCCCATCAAACACTGCCCCTCAGCCCCACCTATCAGATTCT
|
benign
| 315,475 |
Mutation at chromosome 20, position 62322651, within LAMA5 (laminin subunit alpha 5): benign or pathogenic? If pathogenic, indicate the disease(s).
|
benign
|
GCTGCTCCAGCACCTCCAGCTGCTGTGCCGTCTCATGGCGGGGGCCCAGGGGGCTCCGGAGCTGGCTCTGTGGGAGGCGAAAGGTGAAGGCCTGCACTGGCCCGGGTTGGGGAGGGAAGGCCAGGACGCTCAGTACCTGCAGGTCAGCGATGGAGGCGTTCAGCCTGTGCAGACGGGCCCAGGCCATGGAGCTGGCATTGATGCCACGCAGTTGCTCGTGAATGGCGGGGAGGAGGGCGCCGGCCCGTTCCAGGTCATCCAGGAGCAGGACCACACAGTGGTCACACACTGCAGGCGATGTGGGGTCACAGGTCAGTGTCATTGGGTCAGGCCAGGGGAGAATGATCAGCTGGGGCCCTGGGGTCATTAGGGTGGGGAGGGCTCAGCCAGAGGTCATGAGGTCAGCTTAGGGACACAGGACCTGTGGGGAGGTCCCAGAGTTCTGGCAGAGTCATAGGGTCAGGTAGGAGTCAGATGGGAGTGAAGGGCATGGGGTCACCCAGGGAGAAGGTAGGGCCAGCACAAGGGGTTGGGGCCGGAGGTGGGGCCAGTGAAGGGGCGGGGCCGGTGGAGGCAGGGTCAGTGAAGGGGTGGGGCCAGTGGAGGAAGAGGGGGCCAGTGGAGGAGGCGGGGCCTGTGGAGGGGTGGGGCCAGTGGAGGCAGGGTCAGTGAAGGGGTGGGGCCGGTGGAGGAAGAGGGGGCCAGTGAAGGTGTGGGGCCAGTGGAGGAGGTGCAGCCAGTGGAAGAGGTGGGGCCAGTGGGGGTGGGGTCAGTGGAGGGGTGGGGTCAGAGGACGGGTGGGTTCAGAGGACGGGTAGGGTCAGTGGAGGGGTAGGGCCAGCAGAGGGGTAGGGCCAGCAGAGGGGTGGGGTCAGTGGAGGGGTGGGGTCAGTGGAGGGGTGGGGTCAGTGGAGGCAGGGTCAGTGAAAGGGTGGCGCCAGTGGAGGAAGAGGGGGCCAGTGGAGGCAGGGCCTGTGGAGGGGTGGGGCCAGTGGAGGTGGGGTCAGTGAAGGGGTGGGGCCAGCGGAGGAGGTGCAGCCAGTGGAAGAGGTGGGGCCAATGGGGGTGGGGTCAGTGGAGGGGTGGGGTCAGTGGGGGAGGCAGGGCCAGCAGAGGGGTGGGGTCAGTGGAGGGGTGGGGCCAGTGGAGGGGTGGGGTCAGTGGGGGAGGAAGGGCCAGCAGATGGGGTGGGGCCAGGGCACACAGGAAGGCTAGGGACAGTAGAGGGGTGCAGCCAGCAGTGGAGCTGCAGCGCTCCTCAGCGTGGTTGGAGTTGGACAGGCATGGGTCTCTCGGGAAATGGAAGGCAGCTGGGACCACTCTGGGAGGTCGACGTTAACACTGGGGTCACCAGGCTGTGTGGGACTTGGATTCCTACTCCATCAGGTGTGGGGAAGTGGGGTGTTGAGGACACACCTTCACAGTGGATGCTGTGGCCCACAGGCCCGCCTGGAACAGGCACCTGATGCTGCTGGCTGCAGGTGTCGCAGCGCTCCCCGCTGAGCCCCGGGGGGCAGTTGCAGCGGCCCGTGTGAGGGTCACAGCGGCCCCCAGGGCACTGGCAGCCTGTGGTGGGGGGCTTGGGTGAGCATGGCTGGCCTGGGACCTTGGAGCGTACCCCACTCAGAAGTCCCCATCCGCCCTCCTGTGACCGGCCAGCACTCACGCCTGCAGCCCTGCTCAGGGAGCCCCCAGTAGCCAGGGGCACACTCGCGGCACTGGGGTCCCATGGTCCCTGGTCGGCAGTGGCACTGTCCGCTCTGGGGGTGGCACTCGGAGCCCTCGGCGGCCGGTCCACAAGCACACGGGCGGCAGCCCCCGCAGCCATCGAAACCAAAATGTCCCTCCTGTGGCACAGGCTGGTCACTGCCCTGCCCAGCCCTCAAGACTGTCCCAGACCAACCTGGAAGCCAGGGGTCCTGCCCATCTGGCCCCACCCCCTGAGGCTCTGCCCATCAAACACTGCCCCTCAGCCCCACCTATCAGATTCTCCCCAGGCCCCAACTCTAGTCCCTAGGCCCCACCCACCCAGCCCTGCTTACCCCACAGCCCTACCTGGCAGCGGTCACAGCGCCGCCCAGTCACGCCCGCCTTGCACAGGCAGTGCCCGCTGTGGGGGTCGCAGGCCTCTGTCCCACATGGGGTACAGTCGCACCCTGCAGAAGGGGTCCGTGACTGCAGCCCTGGGCCCTCTCACCCCCCCAGGGAGCCCCTAGGCACCCTCCTAAGCCCTCACTTCACTGCCTCCTGCTGTGTCTCCTCCAGGCCGCCCGGACCACCCGGCTACCCACTCGTGTCCCAGCCTGGCCCCACTCCCCAGCTGCCTCCCCTGGGCCCGAGGGACCTGCAGACTCCCTGCCATGGCCTGCCCTGCTCTGACGGCTGGTGTCCGCTGCCAGTGGTGGGGCATTGGTGGTGGTGTCTAACCATGAGGGGGGACTGATTGTGGGGGGAGAGGGGATGTGATCGTGAGGTGGGGGGGGCGCTGGTCATGGGTTGGGGGGAGGGTCTGATGGTGAAGGTGGGGGCCTGATCATGGGTAGGGGAGGGGGGATGTGATCCTGGTATGGGGAGGGTCTGATTGTAGTAGGGAGAAAGGGTGTGATGGTCCGGGGGAGGCCTGATGGTGAAGGGGCCTGATCGCTGGGGCGGGAGGGCCTGATCGCTGGGGCGGGAGGACCGGATCATAGCGGGGGAGAAAGGGTTGACCATGAACCCAGAAGGCTGGCTCCGACTTGTCCTGGCTGGGCCCCAGCATCAGGCACACAGCCTACTTACGGGGTACGCCCAGCAGGCCTCCCTCCTCCCCGCGCAACCCTCCCCAGGGTGCATCCCTCCCAGCCCGACGCCTACGGGTGCAGTTGCCGGGCAGCAGGGCGTTGCCGTAGAAGCCGGGGGCACAGATCTCGCAGCGGGGCCCAGTGGTGTGGCGCAGGCAGCCACGGCAGGCGCCCGTCAGGGGGTCGCAGTCGCTGAAGAGCAAGTTGGGGTCACCGTTGCCGCTGCAGTCGCATGGCTGGCAGGAGCTGCCCAGCACCAGTGGGTTCCCAAAGAATCCGGGCGCACACCTGGGAGCAGGGTGGGGAGGGGCCGTCAGTGGCCCGTGGCGCCCACCCTCGCATATCCTGGGGTCAGCACTCAGGCCCTGCCCCACTGCCCTAGCCCCAGCTCACCGCTCGCAGGAGGCACCTGCATAACCAGGTTTGCAGAGGCACTGGGTGCGGCCGCCTCGCAGGACACAGCCCTCGGCGAAGCTGCAAAGACCAGCAGCGTCAGTCACTAGGCCCCTGGCAGTGCCCGGGCCCGGGCGAGCACACTGTGCTCCGGCTGGAACACACGCCAGGCGTCGGGGGCCCAGACCTCACGGACACCTCCAGCTGTCCAGGCCTCTGCAGAGGGCAGTGGGAACCCACCCCGCTGCTGGGTGAAGGGAGCCTGGCACCATCAGGGCCTCGTCCCGGGAGGAGGCTGGCTTACTTGTTGGAAGGCACTGAGAGGGGGCAGGGGCAGCTGACACAGGGGGCGCTGGGGTCGTCCCTGCTGCTCACGAAGCCAGCCTGGCAGCGCTCACAGTGGGCCCCTTCGGTGTTGTGCTGGCAGTCCTGGGGCAGAGTGGACAGTCAGAGCTATGGTGGACACCCACATCCTACTGCCGAGTCTGTGCAGCTCCCACCACCCCTGCCTCAGACTCTGTGCCCAAGGCCAGATGGTCCCCCACTGGGCAACACCCTTCCCCAGACCTCAGTTGACCTGGAAGTGCAGCCCCTGGTCTTCCCTGGCACACTTGACTGTGCCTTCAGTGAATGCTGCCCCCCTGGCCCCACCAGCCCCTACTCACCACACAGACGCCAGAGCCAGGGAGGCAGCGGTCTGAGTGTCCATGGCACTGACAAGGGACACATCGGCCCAGGAAGAGACCTTTGACGTCCCGATAGAAGCCGGGGGCACATTCCTGAGGGTGTACGGGGGCAGGTGGCATCAGCGATTGAGAGGACGAGGGGCCCCACCCTGCAAGCTCACAAGTCAGACCCTCAGGGATCCTGCAGGCACGAGGCACTGGGAACCCGTGGAGCATGGTCACCGCTGGGTCAGAGGC
|
GCTGCTCCAGCACCTCCAGCTGCTGTGCCGTCTCATGGCGGGGGCCCAGGGGGCTCCGGAGCTGGCTCTGTGGGAGGCGAAAGGTGAAGGCCTGCACTGGCCCGGGTTGGGGAGGGAAGGCCAGGACGCTCAGTACCTGCAGGTCAGCGATGGAGGCGTTCAGCCTGTGCAGACGGGCCCAGGCCATGGAGCTGGCATTGATGCCACGCAGTTGCTCGTGAATGGCGGGGAGGAGGGCGCCGGCCCGTTCCAGGTCATCCAGGAGCAGGACCACACAGTGGTCACACACTGCAGGCGATGTGGGGTCACAGGTCAGTGTCATTGGGTCAGGCCAGGGGAGAATGATCAGCTGGGGCCCTGGGGTCATTAGGGTGGGGAGGGCTCAGCCAGAGGTCATGAGGTCAGCTTAGGGACACAGGACCTGTGGGGAGGTCCCAGAGTTCTGGCAGAGTCATAGGGTCAGGTAGGAGTCAGATGGGAGTGAAGGGCATGGGGTCACCCAGGGAGAAGGTAGGGCCAGCACAAGGGGTTGGGGCCGGAGGTGGGGCCAGTGAAGGGGCGGGGCCGGTGGAGGCAGGGTCAGTGAAGGGGTGGGGCCAGTGGAGGAAGAGGGGGCCAGTGGAGGAGGCGGGGCCTGTGGAGGGGTGGGGCCAGTGGAGGCAGGGTCAGTGAAGGGGTGGGGCCGGTGGAGGAAGAGGGGGCCAGTGAAGGTGTGGGGCCAGTGGAGGAGGTGCAGCCAGTGGAAGAGGTGGGGCCAGTGGGGGTGGGGTCAGTGGAGGGGTGGGGTCAGAGGACGGGTGGGTTCAGAGGACGGGTAGGGTCAGTGGAGGGGTAGGGCCAGCAGAGGGGTAGGGCCAGCAGAGGGGTGGGGTCAGTGGAGGGGTGGGGTCAGTGGAGGGGTGGGGTCAGTGGAGGCAGGGTCAGTGAAAGGGTGGCGCCAGTGGAGGAAGAGGGGGCCAGTGGAGGCAGGGCCTGTGGAGGGGTGGGGCCAGTGGAGGTGGGGTCAGTGAAGGGGTGGGGCCAGCGGAGGAGGTGCAGCCAGTGGAAGAGGTGGGGCCAATGGGGGTGGGGTCAGTGGAGGGGTGGGGTCAGTGGGGGAGGCAGGGCCAGCAGAGGGGTGGGGTCAGTGGAGGGGTGGGGCCAGTGGAGGGGTGGGGTCAGTGGGGGAGGAAGGGCCAGCAGATGGGGTGGGGCCAGGGCACACAGGAAGGCTAGGGACAGTAGAGGGGTGCAGCCAGCAGTGGAGCTGCAGCGCTCCTCAGCGTGGTTGGAGTTGGACAGGCATGGGTCTCTCGGGAAATGGAAGGCAGCTGGGACCACTCTGGGAGGTCGACGTTAACACTGGGGTCACCAGGCTGTGTGGGACTTGGATTCCTACTCCATCAGGTGTGGGGAAGTGGGGTGTTGAGGACACACCTTCACAGTGGATGCTGTGGCCCACAGGCCCGCCTGGAACAGGCACCTGATGCTGCTGGCTGCAGGTGTCGCAGCGCTCCCCGCTGAGCCCCGGGGGGCAGTTGCAGCGGCCCGTGTGAGGGTCACAGCGGCCCCCAGGGCACTGGCAGCCTGTGGTGGGGGGCTTGGGTGAGCATGGCTGGCCTGGGACCTTGGAGCGTACCCCACTCAGAAGTCCCCATCCGCCCTCCTGTGACCGGCCAGCACTCACGCCTGCAGCCCTGCTCAGGGAGCCCCCAGTAGCCAGGGGCACACTCGCGGCACTGGGGTCCCATGGTCCCTGGTCGGCAGTGGCACTGTCCGCTCTGGGGGTGGCACTCGGAGCCCTCGGCGGCCGGTCCACAAGCACACGGGCGGCAGCCCCCGCAGCCATCGAAACCAAAATGTCCCTCCTGTGGCACAGGCTGGTCACTGCCCTGCCCAGCCCTCAAGACTGTCCCAGACCAACCTGGAAGCCAGGGGTCCTGCCCATCTGGCCCCACCCCCTGAGGCTCTGCCCATCAAACACTGCCCCTCAGCCCCACCTATCAGATTCTCCCCAGGCCCCAACTCTAGTCCCTAGGCCCCACCCACCCAGCCCTGCTTACCCCACAGCCTACCTGGCAGCGGTCACAGCGCCGCCCAGTCACGCCCGCCTTGCACAGGCAGTGCCCGCTGTGGGGGTCGCAGGCCTCTGTCCCACATGGGGTACAGTCGCACCCTGCAGAAGGGGTCCGTGACTGCAGCCCTGGGCCCTCTCACCCCCCCAGGGAGCCCCTAGGCACCCTCCTAAGCCCTCACTTCACTGCCTCCTGCTGTGTCTCCTCCAGGCCGCCCGGACCACCCGGCTACCCACTCGTGTCCCAGCCTGGCCCCACTCCCCAGCTGCCTCCCCTGGGCCCGAGGGACCTGCAGACTCCCTGCCATGGCCTGCCCTGCTCTGACGGCTGGTGTCCGCTGCCAGTGGTGGGGCATTGGTGGTGGTGTCTAACCATGAGGGGGGACTGATTGTGGGGGGAGAGGGGATGTGATCGTGAGGTGGGGGGGGCGCTGGTCATGGGTTGGGGGGAGGGTCTGATGGTGAAGGTGGGGGCCTGATCATGGGTAGGGGAGGGGGGATGTGATCCTGGTATGGGGAGGGTCTGATTGTAGTAGGGAGAAAGGGTGTGATGGTCCGGGGGAGGCCTGATGGTGAAGGGGCCTGATCGCTGGGGCGGGAGGGCCTGATCGCTGGGGCGGGAGGACCGGATCATAGCGGGGGAGAAAGGGTTGACCATGAACCCAGAAGGCTGGCTCCGACTTGTCCTGGCTGGGCCCCAGCATCAGGCACACAGCCTACTTACGGGGTACGCCCAGCAGGCCTCCCTCCTCCCCGCGCAACCCTCCCCAGGGTGCATCCCTCCCAGCCCGACGCCTACGGGTGCAGTTGCCGGGCAGCAGGGCGTTGCCGTAGAAGCCGGGGGCACAGATCTCGCAGCGGGGCCCAGTGGTGTGGCGCAGGCAGCCACGGCAGGCGCCCGTCAGGGGGTCGCAGTCGCTGAAGAGCAAGTTGGGGTCACCGTTGCCGCTGCAGTCGCATGGCTGGCAGGAGCTGCCCAGCACCAGTGGGTTCCCAAAGAATCCGGGCGCACACCTGGGAGCAGGGTGGGGAGGGGCCGTCAGTGGCCCGTGGCGCCCACCCTCGCATATCCTGGGGTCAGCACTCAGGCCCTGCCCCACTGCCCTAGCCCCAGCTCACCGCTCGCAGGAGGCACCTGCATAACCAGGTTTGCAGAGGCACTGGGTGCGGCCGCCTCGCAGGACACAGCCCTCGGCGAAGCTGCAAAGACCAGCAGCGTCAGTCACTAGGCCCCTGGCAGTGCCCGGGCCCGGGCGAGCACACTGTGCTCCGGCTGGAACACACGCCAGGCGTCGGGGGCCCAGACCTCACGGACACCTCCAGCTGTCCAGGCCTCTGCAGAGGGCAGTGGGAACCCACCCCGCTGCTGGGTGAAGGGAGCCTGGCACCATCAGGGCCTCGTCCCGGGAGGAGGCTGGCTTACTTGTTGGAAGGCACTGAGAGGGGGCAGGGGCAGCTGACACAGGGGGCGCTGGGGTCGTCCCTGCTGCTCACGAAGCCAGCCTGGCAGCGCTCACAGTGGGCCCCTTCGGTGTTGTGCTGGCAGTCCTGGGGCAGAGTGGACAGTCAGAGCTATGGTGGACACCCACATCCTACTGCCGAGTCTGTGCAGCTCCCACCACCCCTGCCTCAGACTCTGTGCCCAAGGCCAGATGGTCCCCCACTGGGCAACACCCTTCCCCAGACCTCAGTTGACCTGGAAGTGCAGCCCCTGGTCTTCCCTGGCACACTTGACTGTGCCTTCAGTGAATGCTGCCCCCCTGGCCCCACCAGCCCCTACTCACCACACAGACGCCAGAGCCAGGGAGGCAGCGGTCTGAGTGTCCATGGCACTGACAAGGGACACATCGGCCCAGGAAGAGACCTTTGACGTCCCGATAGAAGCCGGGGGCACATTCCTGAGGGTGTACGGGGGCAGGTGGCATCAGCGATTGAGAGGACGAGGGGCCCCACCCTGCAAGCTCACAAGTCAGACCCTCAGGGATCCTGCAGGCACGAGGCACTGGGAACCCGTGGAGCATGGTCACCGCTGGGTCAGAGGCN
|
benign
| 315,496 |
Does the genetic variant at chromosome 20, position 62367030, impacting gene LAMA5, appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
benign
|
GGACTTCTCACACGCCCAATCCGCGGCCAGGGCGGTCAGCAGACCCGCGGCTCTCAGATGAAGGAGGCATCCAAGGTCATACCCGTCCAGCTCACGTCTACCAGCTGATCTTTCTACATATCTGGCAGCCTCAGCGGGCACTCACTGCTCAGAGCTCGAGACTTTGGAAGCGAAGGGTTCACCTCTATTGCTAGACATGAGCTGGGCGAGGCCGGCTGGTTTCTCATCCAAGCTGGCTCTGAGGCATGGAGCACCACAGCCCACAGCTGCCACTGAAACTGTGGCCACTTCCCAGGCTCCTCGGGCCAAGCTCACAGTCTCAGGTGAGGGGGGCCAGCACGCTGTGCCCATTTTAAAGACAGCTTGAGGCTGACAGAGGGAAGCCACACAGCTGAGGCAGAGGAGAGGGGCGTTGACTACAGGCTGGCCCTTTACTCACGAGACGGGGGTAATAAGCCCCCACAGAGGAGACAGATCTGAGAGGGGGCCTGTGGCCCCCAGCCACGCAGCATGGGCAGGCTGTGGGGGGGTGGTCTGAGGTTCACAGGGCACCTGGAGCCTCCCCTGCCAGAACGGCAAAATCTCAGCTGGGGACACTCAGCCAGGCCCTCTGTGGTGAGGTGTGGCAGCAGGTAAGGAGACAGTCACAGGCCCTCCGTCCTGAGACCCGGCCCCTCTGAGTTGACCAGATAAGGGGGCAGCCAGGAGGCACCCAGGTTCCCACAGCTAACCCCCGCTGGACCCTGTTCTGGCTGGGGGGCTCCAAGCAGGTGTCAGCAGCTTTCCAGGGCTCAGATCCCCCATCTGAAGTGTGGGCTTGAGACCTCCTATCTCAGAGGACTGTGCTGGGCTTAAGGAGAGAACGGTGAGCCCAGAAGCCTGGGGAGGCTCCTTCCCCCTCCACCAGGGCCAAGGGGGTGGGGCAGGCAGAGGGGGCGGGCCCAGCCCAGGCTCCTCCATTCATCCCCATAACGTCTTGCTCCAGGGCCCTCTGCCCCCACCCAGCAAATCTCCAGCTACTCGCCCCTGCCCCAGCCTCTCCTTCCGGGAAGGCAGAGGTACCAGGGAGGAGACAGCTCAGGTTACACAGGCCCTCAGGGCCCCTAGACTCTCCCTAAGGTGGGGCTGAGGTGGGGAATGGGCCTAGAGCGGCCGGTTGGGAGCCGTTGGAGCTGACTTTGCTGCTCCTCACCCAAGGCTGACCCCAGGCCCAACCTAAGTCTACAGGGCCCCAAGAGCCTTGGTTTTCAGGTGAGGTGTCCATGCATGGAGTCCACCAACAGAACCCGCCTACAGGTTTAAGGCTTGTTGGGGAGGGGACATGCACCCCAGGGGGTCTTCAGGGCCTGAACCCACATCTCCCAGGGAGACTGAAGCCCCCGGACCCTACCACCTGCTGGGCAGAGATGCTGCCCCTCCTGGGAGCCACGTGTTCCCAGCCCCAGTCAAAACTTCGCAGCTGGCCCTCCCCTACTTTGGAGGTCTCCTCGAGTCCCTAGACTCCTCCGAGAGGGGCTAGTGGGAGCCTCAGGTGGCTGGCCCCTCCCACCCCATCCAGAGGCCAACAGGTTCCAGCCTGTCCCGGGTAGGGCGGAGCTGCGCCCCCTCCCCACCGGCAGCAGGCGGCGGAGGCCAAGTCCCGCCCTCCCCGGGATCCCGGACTTGGGGCCGCCAGGGACTGGGCCCGGCCCCCCTCCCGCCCCGGTCACCGCAGTCGAACTGGACCGGCGCCCAGCCGCCCCCGGGTCCATGCCGGGGACTTTAATTCCGCCTTCCCGGAGGGACGCGAAGTTTCCCGGCCGAGACGGAGCGGCCGGGTCGGGGTGCCTTCTTGGGCCCCCAAAATGCGGAACCAGAGAGTCCGCACCTGGACTCGCCCCGGGCCACGGCGCTCCCCCTGGGGTCGGGCCGGTGTTCCGGGTCCGAGTGCCCCGGGAGGAAGCCCCACGGCCCGCCCCTGCGCTCACCCGGATGGTCTGGTTGGGGTCGCCGCCGGCCACGGGGCCCCCTACCAGCTTGCAGTAAAGGTCCTCGGTGGGGCGCGGGGAGCCGCGCGCCGGGGCCTCCTCTCCGCAGGTCGCGGAGGCGGCGATGCGGGCGCCCTCGGCCAGGTTGAAGTAGGGCGGGTGCAGGCTGAAGCCGCCGCCCGCCTCCTCCCGCGCCCGCGCCGCGCCCAGCAGCGCCAGCCCGACCAGCAGCAGCGGCGCGGGGCCCCGGGGGCCGCGAACACACAGTGCGCTCCCCGCGCAGAGCCGCTTCGCCATCTTCCCGGCTCCGGGCCGCGTCCCCGAGCTCCAGGGACAGCGCGCGCGGCGGGAGCCCGGCGGGTCTGAAGCCAGGCGGCCGGCAGGGCTCGCTCCGCCCGCGGACGTCAGGCCCCGCCCCGGCCCGCCCGAGCGCCCGAGCCCCGAGCCCCGGGGAGAGGTCCGGGGAGGCGGGGTGGGGGGGGGAAGGAGAGAGGAGGGGGAGGGGCGGCCGGGCGGCCTTAACCCTTCGGACCCCGGCCCGGCCGCCTCCCGGAAGGGGCACCTGCTGGCCTCGGGCCAGGCCGTGGGACGACGGCGCCGCCGGGCCCCCAGCCCAGGTCGTAGCTCCGGGTCCCGGGTGGGACCCTAGCGCTCCCCACGACGCCCTGGCCCCCAGAGCGCCCACCAGCTCCTCCCAGCCCAGGGGCCCACTCTTTGTTCCCCTAACTTGGGTGCACCACTCGGCTGCCCCCGCTCCTCCCCCAACAGCGTCCGTCCTGCTGGCTGCGGGAAGGTGCCCTCTGCACCCGCGAATGACCATCTGCAGAGGAACGGGGCAGCCTAGGTGGGAACCCCCTGCTTCCTGGGGCAGCCAGGTCAGGTTCAACTCGGCCTGGCTCCCGCCTGCCCCAGCAGGGCTTAAAAATACTCTCAGATAGGGAAATAGGGGCAGGAGGGACTGGCCTGCAGCTGCAGCCCCCTTTAGAGGACGGGGGCGGTGCTCATGGCCCCACAGCCGCCAAATTGGCTCTTAAGGAGGTCGGGGGCTCTGGTCACAGCTGCTGAGCACCTGCTGGGTGCCTGGAAGCACCTGTGCTCCGGGGCCCGGTGGACTCCACCAGCTCTCTCGGCCTGGCCTCCAACCCGCTGCACAGCCGCGCACGCGTTCCTGCCACGATCGGCGGCTCGAGGACGCCTGGCAAACAGCACAGGACCTAGAGGCCGAGATCAGGTCTTCGTCTGCCTTTGGGTGGCTGCGGCCCTGGGTCTCCTACTTCCCTTGGGCTCCGGGGCCAAATCTGCCTCCAGGGAAGCCCCGAGGGGGTGGCGGCGGGGTGGGGCTGCAGCTGCCGAGCTGGCAGCAAACCCCCATCCCTGAGCCAGGCCAGCTGGGCGGGCCATGGTCCCAGATGGGCTGTGGGGCTCATCTCTCGCTGGGTTCCCTGGACAGTCCCGGGGGGCTGGGTGGGTTTGTGGGGCACTGGCCAGCCGGTTCTGGTGGGGGTTCTGAGCTAGCAGCTGTCCCTGGAGGGTGCACCTCCTTGCACACCTTCCTGGCGCCCTGGCCTCCTGCAAATCTCAAATCCCAAGAGGGTGTATGGCCCTTTCTCTACGGAGTCGGGAGGGCGATGGGACCCTCTCTCCCTCCTCCTACTTTCCGGCCCGGCAATTCTTCCATAACTTCACTATTAGTTCTCCCACCTGGGGGAGGGGGGAGAGGAGGCGGCTCCCCTTGGCAGGAGAAGCTCCAAGTGGGGGAGGGGCTGGCTGGAGAGGGGGCGGAGACATCAAGGAATCTGCAGTCCAGGCGCAGAGTCCGGCTCTGAGCTGCTTTAGATCCCGTGTGAGGCAGAGAGTGGCCTCTGGGCAGTAGCGGGTCCCCAGGTGGGGGCTTGGCCCCAGGCAGTGTGCTCTGGCTCTGGGCTCCCCCTTGACAGCTTGGGGCTCTGACAGCCTGGGGGACTGGAGGTGGAGACTCCTGAGACCCTGAGGGCTTCTTGGGATCCCTGGAGGGTCGGGTGGTTGGAGGGGTGGGATTGCGAGTGGCGGGGCAGGGGGAGAGGTGGGGGTGGGGAGAGCACTTTAAGCCTCCTAGCGGCCAGATCAGGCCAAGCTGCCAGGCCTCCGCT
|
GGACTTCTCACACGCCCAATCCGCGGCCAGGGCGGTCAGCAGACCCGCGGCTCTCAGATGAAGGAGGCATCCAAGGTCATACCCGTCCAGCTCACGTCTACCAGCTGATCTTTCTACATATCTGGCAGCCTCAGCGGGCACTCACTGCTCAGAGCTCGAGACTTTGGAAGCGAAGGGTTCACCTCTATTGCTAGACATGAGCTGGGCGAGGCCGGCTGGTTTCTCATCCAAGCTGGCTCTGAGGCATGGAGCACCACAGCCCACAGCTGCCACTGAAACTGTGGCCACTTCCCAGGCTCCTCGGGCCAAGCTCACAGTCTCAGGTGAGGGGGGCCAGCACGCTGTGCCCATTTTAAAGACAGCTTGAGGCTGACAGAGGGAAGCCACACAGCTGAGGCAGAGGAGAGGGGCGTTGACTACAGGCTGGCCCTTTACTCACGAGACGGGGGTAATAAGCCCCCACAGAGGAGACAGATCTGAGAGGGGGCCTGTGGCCCCCAGCCACGCAGCATGGGCAGGCTGTGGGGGGGTGGTCTGAGGTTCACAGGGCACCTGGAGCCTCCCCTGCCAGAACGGCAAAATCTCAGCTGGGGACACTCAGCCAGGCCCTCTGTGGTGAGGTGTGGCAGCAGGTAAGGAGACAGTCACAGGCCCTCCGTCCTGAGACCCGGCCCCTCTGAGTTGACCAGATAAGGGGGCAGCCAGGAGGCACCCAGGTTCCCACAGCTAACCCCCGCTGGACCCTGTTCTGGCTGGGGGGCTCCAAGCAGGTGTCAGCAGCTTTCCAGGGCTCAGATCCCCCATCTGAAGTGTGGGCTTGAGACCTCCTATCTCAGAGGACTGTGCTGGGCTTAAGGAGAGAACGGTGAGCCCAGAAGCCTGGGGAGGCTCCTTCCCCCTCCACCAGGGCCAAGGGGGTGGGGCAGGCAGAGGGGGCGGGCCCAGCCCAGGCTCCTCCATTCATCCCCATAACGTCTTGCTCCAGGGCCCTCTGCCCCCACCCAGCAAATCTCCAGCTACTCGCCCCTGCCCCAGCCTCTCCTTCCGGGAAGGCAGAGGTACCAGGGAGGAGACAGCTCAGGTTACACAGGCCCTCAGGGCCCCTAGACTCTCCCTAAGGTGGGGCTGAGGTGGGGAATGGGCCTAGAGCGGCCGGTTGGGAGCCGTTGGAGCTGACTTTGCTGCTCCTCACCCAAGGCTGACCCCAGGCCCAACCTAAGTCTACAGGGCCCCAAGAGCCTTGGTTTTCAGGTGAGGTGTCCATGCATGGAGTCCACCAACAGAACCCGCCTACAGGTTTAAGGCTTGTTGGGGAGGGGACATGCACCCCAGGGGGTCTTCAGGGCCTGAACCCACATCTCCCAGGGAGACTGAAGCCCCCGGACCCTACCACCTGCTGGGCAGAGATGCTGCCCCTCCTGGGAGCCACGTGTTCCCAGCCCCAGTCAAAACTTCGCAGCTGGCCCTCCCCTACTTTGGAGGTCTCCTCGAGTCCCTAGACTCCTCCGAGAGGGGCTAGTGGGAGCCTCAGGTGGCTGGCCCCTCCCACCCCATCCAGAGGCCAACAGGTTCCAGCCTGTCCCGGGTAGGGCGGAGCTGCGCCCCCTCCCCACCGGCAGCAGGCGGCGGAGGCCAAGTCCCGCCCTCCCCGGGATCCCGGACTTGGGGCCGCCAGGGACTGGGCCCGGCCCCCCTCCCGCCCCGGTCACCGCAGTCGAACTGGACCGGCGCCCAGCCGCCCCCGGGTCCATGCCGGGGACTTTAATTCCGCCTTCCCGGAGGGACGCGAAGTTTCCCGGCCGAGACGGAGCGGCCGGGTCGGGGTGCCTTCTTGGGCCCCCAAAATGCGGAACCAGAGAGTCCGCACCTGGACTCGCCCCGGGCCACGGCGCTCCCCCTGGGGTCGGGCCGGTGTTCCGGGTCCGAGTGCCCCGGGAGGAAGCCCCACGGCCCGCCCCTGCGCTCACCCGGATGGTCTGGTTGGGGTCGCCGCCGGCCACGGGGCCCCCTACCAGCTTGCAGTAAAGGTCCTCGGTGGGGCGCGGGGAGGGGGCCTCCTCTCCGCAGGTCGCGGAGGCGGCGATGCGGGCGCCCTCGGCCAGGTTGAAGTAGGGCGGGTGCAGGCTGAAGCCGCCGCCCGCCTCCTCCCGCGCCCGCGCCGCGCCCAGCAGCGCCAGCCCGACCAGCAGCAGCGGCGCGGGGCCCCGGGGGCCGCGAACACACAGTGCGCTCCCCGCGCAGAGCCGCTTCGCCATCTTCCCGGCTCCGGGCCGCGTCCCCGAGCTCCAGGGACAGCGCGCGCGGCGGGAGCCCGGCGGGTCTGAAGCCAGGCGGCCGGCAGGGCTCGCTCCGCCCGCGGACGTCAGGCCCCGCCCCGGCCCGCCCGAGCGCCCGAGCCCCGAGCCCCGGGGAGAGGTCCGGGGAGGCGGGGTGGGGGGGGGAAGGAGAGAGGAGGGGGAGGGGCGGCCGGGCGGCCTTAACCCTTCGGACCCCGGCCCGGCCGCCTCCCGGAAGGGGCACCTGCTGGCCTCGGGCCAGGCCGTGGGACGACGGCGCCGCCGGGCCCCCAGCCCAGGTCGTAGCTCCGGGTCCCGGGTGGGACCCTAGCGCTCCCCACGACGCCCTGGCCCCCAGAGCGCCCACCAGCTCCTCCCAGCCCAGGGGCCCACTCTTTGTTCCCCTAACTTGGGTGCACCACTCGGCTGCCCCCGCTCCTCCCCCAACAGCGTCCGTCCTGCTGGCTGCGGGAAGGTGCCCTCTGCACCCGCGAATGACCATCTGCAGAGGAACGGGGCAGCCTAGGTGGGAACCCCCTGCTTCCTGGGGCAGCCAGGTCAGGTTCAACTCGGCCTGGCTCCCGCCTGCCCCAGCAGGGCTTAAAAATACTCTCAGATAGGGAAATAGGGGCAGGAGGGACTGGCCTGCAGCTGCAGCCCCCTTTAGAGGACGGGGGCGGTGCTCATGGCCCCACAGCCGCCAAATTGGCTCTTAAGGAGGTCGGGGGCTCTGGTCACAGCTGCTGAGCACCTGCTGGGTGCCTGGAAGCACCTGTGCTCCGGGGCCCGGTGGACTCCACCAGCTCTCTCGGCCTGGCCTCCAACCCGCTGCACAGCCGCGCACGCGTTCCTGCCACGATCGGCGGCTCGAGGACGCCTGGCAAACAGCACAGGACCTAGAGGCCGAGATCAGGTCTTCGTCTGCCTTTGGGTGGCTGCGGCCCTGGGTCTCCTACTTCCCTTGGGCTCCGGGGCCAAATCTGCCTCCAGGGAAGCCCCGAGGGGGTGGCGGCGGGGTGGGGCTGCAGCTGCCGAGCTGGCAGCAAACCCCCATCCCTGAGCCAGGCCAGCTGGGCGGGCCATGGTCCCAGATGGGCTGTGGGGCTCATCTCTCGCTGGGTTCCCTGGACAGTCCCGGGGGGCTGGGTGGGTTTGTGGGGCACTGGCCAGCCGGTTCTGGTGGGGGTTCTGAGCTAGCAGCTGTCCCTGGAGGGTGCACCTCCTTGCACACCTTCCTGGCGCCCTGGCCTCCTGCAAATCTCAAATCCCAAGAGGGTGTATGGCCCTTTCTCTACGGAGTCGGGAGGGCGATGGGACCCTCTCTCCCTCCTCCTACTTTCCGGCCCGGCAATTCTTCCATAACTTCACTATTAGTTCTCCCACCTGGGGGAGGGGGGAGAGGAGGCGGCTCCCCTTGGCAGGAGAAGCTCCAAGTGGGGGAGGGGCTGGCTGGAGAGGGGGCGGAGACATCAAGGAATCTGCAGTCCAGGCGCAGAGTCCGGCTCTGAGCTGCTTTAGATCCCGTGTGAGGCAGAGAGTGGCCTCTGGGCAGTAGCGGGTCCCCAGGTGGGGGCTTGGCCCCAGGCAGTGTGCTCTGGCTCTGGGCTCCCCCTTGACAGCTTGGGGCTCTGACAGCCTGGGGGACTGGAGGTGGAGACTCCTGAGACCCTGAGGGCTTCTTGGGATCCCTGGAGGGTCGGGTGGTTGGAGGGGTGGGATTGCGAGTGGCGGGGCAGGGGGAGAGGTGGGGGTGGGGAGAGCACTTTAAGCCTCCTAGCGGCCAGATCAGGCCAAGCTGCCAGGCCTCCGCTNNNNNNNNN
|
benign
| 315,631 |
Does the genetic variant at chromosome 20, position 62817577, impacting gene COL9A3 (collagen type IX alpha 3 chain), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
benign
|
TAGGAAGCTCTGTGCCAGGATGACTTGGACTCCTCAGGAGGGTGGGCCTTTTCAGCTCCTCCCACCTCGCCTGATGGAATTCGCACACACCCCTCCCAGCCCAGCCACCGCGCTCACCCAGCAGTGAAGGGAGAATCTCCCTCCACTCACTTCACCGCGGGAGAGATTAGAGCGACACTATTATTTTGAGACAGGGTCTCACTCTCTTGCCCAGGCAGGAGTGCAGTGGCGCCGTCTTGGCTCACTGCAGCCCCGACCTTACAGGCTCAAGCGATCCTCTTGCCTCAGCCTCCCGTGTAGCGTGGACTACAGGCGAGCACCACCATGCCCAGCCGATGTTTTAATTTTTGGTAGACATGAGGCCTCCCTCTGTCTCCAAGCTGGCCACGCCCGGCCGATGTTTCAATTTTTGGTAGAGATGAGGCCTCCCTCTGTCGCCAGGCTGACTGCGCCCGGCCAGAGTGCGGTGCTCCTGCTGAGCAGTTTTGCGCCCACTCCCCTCTCATCCCCTCCCGCCCTTGCTAACTCACAGCATTGCAACAGTCATGAGTCCCCACCTGCCGAAAGGAAGCTCCTGCAGCCCCCTACAACCCCCAGGGCAGCCTTTCTCGGGAATTTTCAAGATTCCTGGGGGAGGGGCTGGCATCTGCGCCTTCACTGAGCCTACAGGCAACTGGAAGCTTTGAGTCCCCTAGGGCAGCGACTGCCCTGGCAGCCTGAGGCAGAGCTTGGCCGGACCTGGCGACCCCTGAGCTTCTGGGAAATGGACATGGCCAGCACCGCCTTCAGGTTCCTGCCCAGGGCACGGTTCCTTCAGGCCGGGGATCCCGGGGAGGGGTTCTTCCCCTCGGCCAGGGTCATCGTTTTGCGATCTCTCCTGGGAGTCTGGGTTTGGAGTCTGGTCTTAGCCGGTAGCAACTGACGTGGCCTGACCACCCGGCCCGTCCAGGTCCACGGGTGAGGGGCCGCGGTGGGGGTGCTCCCAGCCCAGCAGGCAGCGCTGGACAGTGACCCCGGAGCGGGAACCAGGGCTGCGCTGGGCACTGACCGGGCCCTGGTACCGGGGATTCACCCTCCCCGGGGTGTTCCTGGGCCTTGGGTCGCCTGGGTCCGCTCCGGCGCCTGGGGAGGGGTCTGCGGCTTCGGAAACTCGCGGGTCTCCCCTGCCCCTCCCTGAAGGCGGCCCTTCAGCGCCGCGCGCTTCCGCCCCCACACTCGGGTTGAGGAGCAAGGAGAGAAAAGAGCGTCTTTCTCTCTTGCTCAAAGCTGCGTGTGTGCAACGCGCCAGTCCCAGGATAATTTTAACTCGCGGCCGGAGAGAACGCGCCGCCCGCCCGGCGTCTTTTTTGTTTTCGCCCAGGCGGGCTGGGCGGCGGCGCGGGGCGGGTGGAAGCCCCCCCGCCCAGGTGGGCCCGGCTGAATGGGGGGCTTGTGCAGGCGGGGGCGGGAAGGGGAAGGGGAAGGGGCCGCCCACCTCCCGCCCCGCCCGCCCGCGCGCCGCCCGCCCCGACGCCGCAGCTCAGACTCCGCTCAGCCATGGCCGGGCCGCGCGCGTGCGCCCCGCTCCTGCTCCTGCTCCTGCTCGGGGAGCTTCTGGCGGCCGCCGGGGCGCAGGTGAGCGCGAGCTCCGGGCTCTGAGGCTGGACGTGGAGCCGCGACCGCCCCAGCCCCGAACCCGCCACTCCGGGGTGCCCGGCGCAGCCTCGACGCCCCCAGCCCGTGTCGCCGTCGGGGCGCGGAGTCGCCAGCGCCTCGGGATGAGCCCCGTCCGGCCGCGTCCTCGATGGGTCCTCGCTGGCCCGGGTCGGCCGGCGCCGCCGCCTCCTCTGGGAGCACAAGGGGGCCTTTGTTCCCGCCGCCGGAGGGAGGCGGGGGACACACTGCGCGGGGGCGCCGGGCTCCGCCCGAGGCTTTGGGTCTCACCGAGGAGAGCGGCGGTCGTCGCAGGCCCCGGAGCCGCTCGGGACCCGGGAGGAGGGGACGCCGGGTCAGGCCCACGGGGGCACCTGCGCTCCTTAATGAGTTTTCTCCGTTTCAGAGAGTGGGACTCCCCGGCCCCCCCGGCCCCCCAGGGCCGCCCGGGAAGCCCGGCCAGGACGGCATTGACGTGAGTTTGGGGGTGGGGAGGGCCCCGAGCGCTCTGGGGTTCTGGCTCTGGCCCCCACCTCCCTGAGCTCCCCGGCCTGATGGAGAGAAAACCAGGCCCCACCTCCCAGAGCCGGGGTGACATCAGGGGACAGCCAGTGCCTTCACGGGATGGGGGTGGCCCTGCGGGGACTGCTGGTGGGTAGGGGTGGAGGGTGTCATGTGGTGGTCCTCCACCCAGAATGCCGGCACTGAGGTGTGTGTCTCTGGGTCCCCTGAGGGGCCCGTGCCCCTGTGTTCGGGGTTCTGGCCTCTGGCTGAAGTGGGGAGAGGCACGTCCTTTGGGTGGTTGGGGGCCGGGGGTCTTGTTGGAGGCTGCTGGGCTCTGGAGCCAGCCATGGAGGGGGCTTAGGAGCCGACTCAGTCCTGAGATGATGTCCCCTATGGGTATCTCAGGACTGGTGTGGGCCAAGCAGCAGGAGGAGGCGGCTGAAATTCTACAATTGTGCCTCCCTCGGAGGGACCGTCTGGGGTGAACCTCCCCATGTGACCACCACCAGGGCAGGAGTCCCCTCAGGGCCTGTCCACGCTGTGTGGTCCCCGTGGAGGGCTGTGGAGGGCTGCACCAAGAGCCCCCCATGACCCACCCTCTGCCCCCCTGCCCAGCTCGGCCTCAATGGCCACAGCCTCCTTCCAGTCTGTCCAGTTCACCCCTTTGCCCAGTGCTGCCCCACACATGGGAGGGTGCCCTCTAGGTAGGGATCGGGGGCTCAGGGGCCCCTTTTGTCTGCTGGGGCTGGGCCTCTGGGGCTGATTTGGAGGCCAGCGCTGCTCTTTTCCCCGAGGCGGGGTTCTTGAGGGACCCCTGATTTTCAGGGTTACATGTGGGTGTCTTTCCTCACAGGGAGAAGCTGGTCCTCCAGGTCTGCCTGGGCCCCCGGTGAGTGTCCCTGGCTGGGGAGACAGCCTTTTTCCAGTCTGGAGAGAAAGGGGGAACTCAGAACAGAGGGGTCATTGATATCCTGTCTCATCCTGCCGGAGCCCGGGTTGCCTGAGGGGAGGCCTCAGAGGGCTTGGAGCAGGCCTGGAGCCAGCGGGGCGGGAGGGGAGTGTGTGGGCTCAGCCTCTGCATGTTCAGGGCAGGGCCTGGCTTTGAAGCTTTCTTTGGACCAGCGCCAGGCAGGCCGGGACCGGGGCTGGTACAGCCCTTCAGGTCCCCCAGGCCTGAGGTCACCTGGAGCCCTCCCACCTTCTTCAGTTCCAGGGGTTGAGGGTCCTGGGGCTCAGAGCCCTGTCTGGGCCCACTGGGGGTCCGACAGAGATGCCTGCTGGCCCTTAGCCAGGGAGGCCGAGGTGACCAGACGAAGGTCTTACAGATGCCACTGAGGGATGGGGCGGGCAGCCTTCCTGGGCCAGCAAGGTGTGGGCAAGCAGGACACACGTGCCCCAGCTGAGCCGGGTCTGCCAGACAGTAGGGGGGACCCAGGAGAGGGGCCCATCCCGTATGGTTGGGCTGGGGGGAAGTGGAAAGCATTTTGCTTCATTGCTGAAGGCCTGGGCTCCAGGCCAGACCCCGCCTTCACATCTCTGCCCTTTCCTCCTGCACAGGGACCAAAGGGGGCCCCAGGAAAGCCGGGGAAACCAGGAGAGGCTGGGCTGCCGGGACTGCCGGGTGTGGATGTGAGTGCGCCTGCCCCTCCCCGCCATGCCCCACTCCCCGCTCCGGGTCCCTGGAGGAGTCCGGCCCTAATTGCTGTTGTCCAGCTGGGCCTGCTCAGGCGGGAAGCCCAGTCCTGAGAGAAGTCTCCAGAAGTCCCCAACAGGGGTCCTTTGGCCTTCATCCCAGACGCCACCAGCATCTGGCAGGGGACAGAGCCAGCCCAGTGGAGTCGGAAGTCCCGCCAGCCCTCCTTGCTTGTCCAGGAATGAGTGCCCATTGTCAGGACCTTCTGCCCACTGCTGGCCTCACTTAGTCATCTTGGGCTCCAGGCCTGGCCCCAGGGCCACGGAG
|
TAGGAAGCTCTGTGCCAGGATGACTTGGACTCCTCAGGAGGGTGGGCCTTTTCAGCTCCTCCCACCTCGCCTGATGGAATTCGCACACACCCCTCCCAGCCCAGCCACCGCGCTCACCCAGCAGTGAAGGGAGAATCTCCCTCCACTCACTTCACCGCGGGAGAGATTAGAGCGACACTATTATTTTGAGACAGGGTCTCACTCTCTTGCCCAGGCAGGAGTGCAGTGGCGCCGTCTTGGCTCACTGCAGCCCCGACCTTACAGGCTCAAGCGATCCTCTTGCCTCAGCCTCCCGTGTAGCGTGGACTACAGGCGAGCACCACCATGCCCAGCCGATGTTTTAATTTTTGGTAGACATGAGGCCTCCCTCTGTCTCCAAGCTGGCCACGCCCGGCCGATGTTTCAATTTTTGGTAGAGATGAGGCCTCCCTCTGTCGCCAGGCTGACTGCGCCCGGCCAGAGTGCGGTGCTCCTGCTGAGCAGTTTTGCGCCCACTCCCCTCTCATCCCCTCCCGCCCTTGCTAACTCACAGCATTGCAACAGTCATGAGTCCCCACCTGCCGAAAGGAAGCTCCTGCAGCCCCCTACAACCCCCAGGGCAGCCTTTCTCGGGAATTTTCAAGATTCCTGGGGGAGGGGCTGGCATCTGCGCCTTCACTGAGCCTACAGGCAACTGGAAGCTTTGAGTCCCCTAGGGCAGCGACTGCCCTGGCAGCCTGAGGCAGAGCTTGGCCGGACCTGGCGACCCCTGAGCTTCTGGGAAATGGACATGGCCAGCACCGCCTTCAGGTTCCTGCCCAGGGCACGGTTCCTTCAGGCCGGGGATCCCGGGGAGGGGTTCTTCCCCTCGGCCAGGGTCATCGTTTTGCGATCTCTCCTGGGAGTCTGGGTTTGGAGTCTGGTCTTAGCCGGTAGCAACTGACGTGGCCTGACCACCCGGCCCGTCCAGGTCCACGGGTGAGGGGCCGCGGTGGGGGTGCTCCCAGCCCAGCAGGCAGCGCTGGACAGTGACCCCGGAGCGGGAACCAGGGCTGCGCTGGGCACTGACCGGGCCCTGGTACCGGGGATTCACCCTCCCCGGGGTGTTCCTGGGCCTTGGGTCGCCTGGGTCCGCTCCGGCGCCTGGGGAGGGGTCTGCGGCTTCGGAAACTCGCGGGTCTCCCCTGCCCCTCCCTGAAGGCGGCCCTTCAGCGCCGCGCGCTTCCGCCCCCACACTCGGGTTGAGGAGCAAGGAGAGAAAAGAGCGTCTTTCTCTCTTGCTCAAAGCTGCGTGTGTGCAACGCGCCAGTCCCAGGATAATTTTAACTCGCGGCCGGAGAGAACGCGCCGCCCGCCCGGCGTCTTTTTTGTTTTCGCCCAGGCGGGCTGGGCGGCGGCGCGGGGCGGGTGGAAGCCCCCCCGCCCAGGTGGGCCCGGCTGAATGGGGGGCTTGTGCAGGCGGGGGCGGGAAGGGGAAGGGGAAGGGGCCGCCCACCTCCCGCCCCGCCCGCCCGCGCGCCGCCCGCCCCGACGCCGCAGCTCAGACTCCGCTCAGCCATGGCCGGGCCGCGCGCGTGCGCCCCGCTCCTGCTCCTGCTCCTGCTCGGGGAGCTTCTGGCGGCCGCCGGGGCGCAGGTGAGCGCGAGCTCCGGGCTCTGAGGCTGGACGTGGAGCCGCGACCGCCCCAGCCCCGAACCCGCCACTCCGGGGTGCCCGGCGCAGCCTCGACGCCCCCAGCCCGTGTCGCCGTCGGGGCGCGGAGTCGCCAGCGCCTCGGGATGAGCCCCGTCCGGCCGCGTCCTCGATGGGTCCTCGCTGGCCCGGGTCGGCCGGCGCCGCCGCCTCCTCTGGGAGCACAAGGGGGCCTTTGTTCCCGCCGCCGGAGGGAGGCGGGGGACACACTGCGCGGGGGCGCCGGGCTCCGCCCGAGGCTTTGGGTCTCACCGAGGAGAGCGGCGGTCGTCGCAGGCCCCGGAGCCGCTCGGGACCCGGGAGGAGGGGACGCCGGGTCAGGCCCACGGGGGCACCTGCGCTCCTTAATGAGTTTTCTCCGTTTCAGAGAGTGGGACTCCCCGGCCCCCCAGGGCCGCCCGGGAAGCCCGGCCAGGACGGCATTGACGTGAGTTTGGGGGTGGGGAGGGCCCCGAGCGCTCTGGGGTTCTGGCTCTGGCCCCCACCTCCCTGAGCTCCCCGGCCTGATGGAGAGAAAACCAGGCCCCACCTCCCAGAGCCGGGGTGACATCAGGGGACAGCCAGTGCCTTCACGGGATGGGGGTGGCCCTGCGGGGACTGCTGGTGGGTAGGGGTGGAGGGTGTCATGTGGTGGTCCTCCACCCAGAATGCCGGCACTGAGGTGTGTGTCTCTGGGTCCCCTGAGGGGCCCGTGCCCCTGTGTTCGGGGTTCTGGCCTCTGGCTGAAGTGGGGAGAGGCACGTCCTTTGGGTGGTTGGGGGCCGGGGGTCTTGTTGGAGGCTGCTGGGCTCTGGAGCCAGCCATGGAGGGGGCTTAGGAGCCGACTCAGTCCTGAGATGATGTCCCCTATGGGTATCTCAGGACTGGTGTGGGCCAAGCAGCAGGAGGAGGCGGCTGAAATTCTACAATTGTGCCTCCCTCGGAGGGACCGTCTGGGGTGAACCTCCCCATGTGACCACCACCAGGGCAGGAGTCCCCTCAGGGCCTGTCCACGCTGTGTGGTCCCCGTGGAGGGCTGTGGAGGGCTGCACCAAGAGCCCCCCATGACCCACCCTCTGCCCCCCTGCCCAGCTCGGCCTCAATGGCCACAGCCTCCTTCCAGTCTGTCCAGTTCACCCCTTTGCCCAGTGCTGCCCCACACATGGGAGGGTGCCCTCTAGGTAGGGATCGGGGGCTCAGGGGCCCCTTTTGTCTGCTGGGGCTGGGCCTCTGGGGCTGATTTGGAGGCCAGCGCTGCTCTTTTCCCCGAGGCGGGGTTCTTGAGGGACCCCTGATTTTCAGGGTTACATGTGGGTGTCTTTCCTCACAGGGAGAAGCTGGTCCTCCAGGTCTGCCTGGGCCCCCGGTGAGTGTCCCTGGCTGGGGAGACAGCCTTTTTCCAGTCTGGAGAGAAAGGGGGAACTCAGAACAGAGGGGTCATTGATATCCTGTCTCATCCTGCCGGAGCCCGGGTTGCCTGAGGGGAGGCCTCAGAGGGCTTGGAGCAGGCCTGGAGCCAGCGGGGCGGGAGGGGAGTGTGTGGGCTCAGCCTCTGCATGTTCAGGGCAGGGCCTGGCTTTGAAGCTTTCTTTGGACCAGCGCCAGGCAGGCCGGGACCGGGGCTGGTACAGCCCTTCAGGTCCCCCAGGCCTGAGGTCACCTGGAGCCCTCCCACCTTCTTCAGTTCCAGGGGTTGAGGGTCCTGGGGCTCAGAGCCCTGTCTGGGCCCACTGGGGGTCCGACAGAGATGCCTGCTGGCCCTTAGCCAGGGAGGCCGAGGTGACCAGACGAAGGTCTTACAGATGCCACTGAGGGATGGGGCGGGCAGCCTTCCTGGGCCAGCAAGGTGTGGGCAAGCAGGACACACGTGCCCCAGCTGAGCCGGGTCTGCCAGACAGTAGGGGGGACCCAGGAGAGGGGCCCATCCCGTATGGTTGGGCTGGGGGGAAGTGGAAAGCATTTTGCTTCATTGCTGAAGGCCTGGGCTCCAGGCCAGACCCCGCCTTCACATCTCTGCCCTTTCCTCCTGCACAGGGACCAAAGGGGGCCCCAGGAAAGCCGGGGAAACCAGGAGAGGCTGGGCTGCCGGGACTGCCGGGTGTGGATGTGAGTGCGCCTGCCCCTCCCCGCCATGCCCCACTCCCCGCTCCGGGTCCCTGGAGGAGTCCGGCCCTAATTGCTGTTGTCCAGCTGGGCCTGCTCAGGCGGGAAGCCCAGTCCTGAGAGAAGTCTCCAGAAGTCCCCAACAGGGGTCCTTTGGCCTTCATCCCAGACGCCACCAGCATCTGGCAGGGGACAGAGCCAGCCCAGTGGAGTCGGAAGTCCCGCCAGCCCTCCTTGCTTGTCCAGGAATGAGTGCCCATTGTCAGGACCTTCTGCCCACTGCTGGCCTCACTTAGTCATCTTGGGCTCCAGGCCTGGCCCCAGGGCCACGGAGNNNNNNNNN
|
benign
| 315,690 |
Considering the genetic mutation at chromosome 20, position 62819308, impacting COL9A3 (collagen type IX alpha 3 chain): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
benign
|
GGGCGCGGAGTCGCCAGCGCCTCGGGATGAGCCCCGTCCGGCCGCGTCCTCGATGGGTCCTCGCTGGCCCGGGTCGGCCGGCGCCGCCGCCTCCTCTGGGAGCACAAGGGGGCCTTTGTTCCCGCCGCCGGAGGGAGGCGGGGGACACACTGCGCGGGGGCGCCGGGCTCCGCCCGAGGCTTTGGGTCTCACCGAGGAGAGCGGCGGTCGTCGCAGGCCCCGGAGCCGCTCGGGACCCGGGAGGAGGGGACGCCGGGTCAGGCCCACGGGGGCACCTGCGCTCCTTAATGAGTTTTCTCCGTTTCAGAGAGTGGGACTCCCCGGCCCCCCCGGCCCCCCAGGGCCGCCCGGGAAGCCCGGCCAGGACGGCATTGACGTGAGTTTGGGGGTGGGGAGGGCCCCGAGCGCTCTGGGGTTCTGGCTCTGGCCCCCACCTCCCTGAGCTCCCCGGCCTGATGGAGAGAAAACCAGGCCCCACCTCCCAGAGCCGGGGTGACATCAGGGGACAGCCAGTGCCTTCACGGGATGGGGGTGGCCCTGCGGGGACTGCTGGTGGGTAGGGGTGGAGGGTGTCATGTGGTGGTCCTCCACCCAGAATGCCGGCACTGAGGTGTGTGTCTCTGGGTCCCCTGAGGGGCCCGTGCCCCTGTGTTCGGGGTTCTGGCCTCTGGCTGAAGTGGGGAGAGGCACGTCCTTTGGGTGGTTGGGGGCCGGGGGTCTTGTTGGAGGCTGCTGGGCTCTGGAGCCAGCCATGGAGGGGGCTTAGGAGCCGACTCAGTCCTGAGATGATGTCCCCTATGGGTATCTCAGGACTGGTGTGGGCCAAGCAGCAGGAGGAGGCGGCTGAAATTCTACAATTGTGCCTCCCTCGGAGGGACCGTCTGGGGTGAACCTCCCCATGTGACCACCACCAGGGCAGGAGTCCCCTCAGGGCCTGTCCACGCTGTGTGGTCCCCGTGGAGGGCTGTGGAGGGCTGCACCAAGAGCCCCCCATGACCCACCCTCTGCCCCCCTGCCCAGCTCGGCCTCAATGGCCACAGCCTCCTTCCAGTCTGTCCAGTTCACCCCTTTGCCCAGTGCTGCCCCACACATGGGAGGGTGCCCTCTAGGTAGGGATCGGGGGCTCAGGGGCCCCTTTTGTCTGCTGGGGCTGGGCCTCTGGGGCTGATTTGGAGGCCAGCGCTGCTCTTTTCCCCGAGGCGGGGTTCTTGAGGGACCCCTGATTTTCAGGGTTACATGTGGGTGTCTTTCCTCACAGGGAGAAGCTGGTCCTCCAGGTCTGCCTGGGCCCCCGGTGAGTGTCCCTGGCTGGGGAGACAGCCTTTTTCCAGTCTGGAGAGAAAGGGGGAACTCAGAACAGAGGGGTCATTGATATCCTGTCTCATCCTGCCGGAGCCCGGGTTGCCTGAGGGGAGGCCTCAGAGGGCTTGGAGCAGGCCTGGAGCCAGCGGGGCGGGAGGGGAGTGTGTGGGCTCAGCCTCTGCATGTTCAGGGCAGGGCCTGGCTTTGAAGCTTTCTTTGGACCAGCGCCAGGCAGGCCGGGACCGGGGCTGGTACAGCCCTTCAGGTCCCCCAGGCCTGAGGTCACCTGGAGCCCTCCCACCTTCTTCAGTTCCAGGGGTTGAGGGTCCTGGGGCTCAGAGCCCTGTCTGGGCCCACTGGGGGTCCGACAGAGATGCCTGCTGGCCCTTAGCCAGGGAGGCCGAGGTGACCAGACGAAGGTCTTACAGATGCCACTGAGGGATGGGGCGGGCAGCCTTCCTGGGCCAGCAAGGTGTGGGCAAGCAGGACACACGTGCCCCAGCTGAGCCGGGTCTGCCAGACAGTAGGGGGGACCCAGGAGAGGGGCCCATCCCGTATGGTTGGGCTGGGGGGAAGTGGAAAGCATTTTGCTTCATTGCTGAAGGCCTGGGCTCCAGGCCAGACCCCGCCTTCACATCTCTGCCCTTTCCTCCTGCACAGGGACCAAAGGGGGCCCCAGGAAAGCCGGGGAAACCAGGAGAGGCTGGGCTGCCGGGACTGCCGGGTGTGGATGTGAGTGCGCCTGCCCCTCCCCGCCATGCCCCACTCCCCGCTCCGGGTCCCTGGAGGAGTCCGGCCCTAATTGCTGTTGTCCAGCTGGGCCTGCTCAGGCGGGAAGCCCAGTCCTGAGAGAAGTCTCCAGAAGTCCCCAACAGGGGTCCTTTGGCCTTCATCCCAGACGCCACCAGCATCTGGCAGGGGACAGAGCCAGCCCAGTGGAGTCGGAAGTCCCGCCAGCCCTCCTTGCTTGTCCAGGAATGAGTGCCCATTGTCAGGACCTTCTGCCCACTGCTGGCCTCACTTAGTCATCTTGGGCTCCAGGCCTGGCCCCAGGGCCACGGAGTTTTGTTCGGAGGAAGCCGGGCCTGAGAAGTGAGCTGTCCAGTCCTGCTGGGTTGGTCCCCGAGGCCTGACTACAGCAGGTGCCTCCGTTGCTGGCTTCCCGCTGGCTGCCCCCTCCCTCCTCCCAGAGCCTCTGGCTACAGCAGGCAGACAGTGGACAGGGCCAAGAGAGGAGGCTGCCACCCTAAGGGTCTTCTATGCCTCTCTGGACTCACCAAGGGAAGGGTCCGTGCTTCCATTTTTGCCTGGGGGGTGGCATGTGCTTCCCATGTGGCCCCTCGAGCTCGCCCTCTGCCTCTCCCCAGGGTCTGACTGGACGAGATGGACCCCCTGGACCCAAGGGTGCCCCTGGGGAACGGGTAAGTGCCTGCGCCGAACCCAGTGGCTTGGGTTCAGAGGTGAGGTCCCCTGGCCACCTCTGGCTGCTCTGTGTCCACAAGGCCAAGGAGCTGGTAGTTCCAAGGACAGCTGCCCTGCCCGTGCCTGGGGTGGAGGGGCAGAAGGGCAGGGTGCCAAGTGGCCAGTCCCCTGTGCCTGCCTCCCTGCCTCACCTCCACGTATGGTCAGAGTTGTCCTGGTATCCAGACCATGGCAGGGAGAAGGGGGATGGTTTGGGGGAACCCACCCCAGGTGCCTCCTCAGAATGTCCCTGAAGCCCCCAGGGCCCTGGGCAGACCACCACCAGGGACCCCCGGGCACGCAGCCTGCAGAGTCCCCTGTGCCTGCCTGTTGGACACTGAATCCTTTACCCTGACGGAGCGGCACCACCACCCAAGGGTGCCTTTCTCCCCTTGTGGCTTCTGAGTACAAACCCGAAGCCAGCATTCTCTCTTTGGCTTCATAAGACGTGGCTGTCAGCCAACCGGGTGCCACTGGCCCCAGGCGCAAAGCATCACAGAGGGCAGGAAGGCTGGGCTGGGGACACGAGGACACAGCCCTGCCCTTGGGACCCTTGGGAGCTCGTCAGGCATGAGGCGGATTCTGAGCTGAAAACAGGAGGGAAACAGTAGCTGCTGGCAGCCGAGTCCGTGGTGCCCAGGGGTGTGGGGTGGGCTGGTCCCCAGGCTTTCAGGAGGGGCCTCCAGCCTCAGCACAGGGCCCGTGCGTGCCGTCCAGGGAATGAGGCATTTCAGGCAGCAGGGGCCAGACAGGGCCCAGAGGGTGTGGAGGGCAGACAGGGCCTGGCTGCCCAAGGCTCTGGGGCTCGCTGACGTGGGCGGGGGCTGAGGACTCAGCAGGCTCCGTGGGTGGGTTATCGGGAGGGCTTCCTGGTGGAGACAGGCACCCCGGGTCACTTCGGTGCCTCTCAGCCCTGCCTCAGGTTGCACCTTCTTGCAGCGAGCGCTGGGACTCTGGTGCCATCTGTCTCCAGCAGCTCCCCAGGACGGCAAAGACCCTCCAGGTCAAGAGGGCTCAGAGGCCCTGCCCCTCTGTGAAGTGGGGACTTGGACCCTGTTGTCCTGGGAGTTGGAGTTGTGACGTCACACTTCAGAGGGAGGGGATTGGGTTTGCAAATAGAGGCCCAGCCCAACCTAGACGCCTGCTTTCCTCCCACAGGGAAGTCTGGGACCCCCGGGGCCGCCCGGGCTGGGGGTGAGTATGGAGTGTGGTCCTCTCCTCTCCATGGGAGTTTGGGGAGCTGGAGAGTCTGGTCTAAATGGGGTGGCCTCCAGGAATCCCAGGGACCATCCCTGGCCCTCTCATCTGCAGCCTCTCCGGAGGCTGGTGCCTG
|
GGGCGCGGAGTCGCCAGCGCCTCGGGATGAGCCCCGTCCGGCCGCGTCCTCGATGGGTCCTCGCTGGCCCGGGTCGGCCGGCGCCGCCGCCTCCTCTGGGAGCACAAGGGGGCCTTTGTTCCCGCCGCCGGAGGGAGGCGGGGGACACACTGCGCGGGGGCGCCGGGCTCCGCCCGAGGCTTTGGGTCTCACCGAGGAGAGCGGCGGTCGTCGCAGGCCCCGGAGCCGCTCGGGACCCGGGAGGAGGGGACGCCGGGTCAGGCCCACGGGGGCACCTGCGCTCCTTAATGAGTTTTCTCCGTTTCAGAGAGTGGGACTCCCCGGCCCCCCCGGCCCCCCAGGGCCGCCCGGGAAGCCCGGCCAGGACGGCATTGACGTGAGTTTGGGGGTGGGGAGGGCCCCGAGCGCTCTGGGGTTCTGGCTCTGGCCCCCACCTCCCTGAGCTCCCCGGCCTGATGGAGAGAAAACCAGGCCCCACCTCCCAGAGCCGGGGTGACATCAGGGGACAGCCAGTGCCTTCACGGGATGGGGGTGGCCCTGCGGGGACTGCTGGTGGGTAGGGGTGGAGGGTGTCATGTGGTGGTCCTCCACCCAGAATGCCGGCACTGAGGTGTGTGTCTCTGGGTCCCCTGAGGGGCCCGTGCCCCTGTGTTCGGGGTTCTGGCCTCTGGCTGAAGTGGGGAGAGGCACGTCCTTTGGGTGGTTGGGGGCCGGGGGTCTTGTTGGAGGCTGCTGGGCTCTGGAGCCAGCCATGGAGGGGGCTTAGGAGCCGACTCAGTCCTGAGATGATGTCCCCTATGGGTATCTCAGGACTGGTGTGGGCCAAGCAGCAGGAGGAGGCGGCTGAAATTCTACAATTGTGCCTCCCTCGGAGGGACCGTCTGGGGTGAACCTCCCCATGTGACCACCACCAGGGCAGGAGTCCCCTCAGGGCCTGTCCACGCTGTGTGGTCCCCGTGGAGGGCTGTGGAGGGCTGCACCAAGAGCCCCCCATGACCCACCCTCTGCCCCCCTGCCCAGCTCGGCCTCAATGGCCACAGCCTCCTTCCAGTCTGTCCAGTTCACCCCTTTGCCCAGTGCTGCCCCACACATGGGAGGGTGCCCTCTAGGTAGGGATCGGGGGCTCAGGGGCCCCTTTTGTCTGCTGGGGCTGGGCCTCTGGGGCTGATTTGGAGGCCAGCGCTGCTCTTTTCCCCGAGGCGGGGTTCTTGAGGGACCCCTGATTTTCAGGGTTACATGTGGGTGTCTTTCCTCACAGGGAGAAGCTGGTCCTCCAGGTCTGCCTGGGCCCCCGGTGAGTGTCCCTGGCTGGGGAGACAGCCTTTTTCCAGTCTGGAGAGAAAGGGGGAACTCAGAACAGAGGGGTCATTGATATCCTGTCTCATCCTGCCGGAGCCCGGGTTGCCTGAGGGGAGGCCTCAGAGGGCTTGGAGCAGGCCTGGAGCCAGCGGGGCGGGAGGGGAGTGTGTGGGCTCAGCCTCTGCATGTTCAGGGCAGGGCCTGGCTTTGAAGCTTTCTTTGGACCAGCGCCAGGCAGGCCGGGACCGGGGCTGGTACAGCCCTTCAGGTCCCCCAGGCCTGAGGTCACCTGGAGCCCTCCCACCTTCTTCAGTTCCAGGGGTTGAGGGTCCTGGGGCTCAGAGCCCTGTCTGGGCCCACTGGGGGTCCGACAGAGATGCCTGCTGGCCCTTAGCCAGGGAGGCCGAGGTGACCAGACGAAGGTCTTACAGATGCCACTGAGGGATGGGGCGGGCAGCCTTCCTGGGCCAGCAAGGTGTGGGCAAGCAGGACACACGTGCCCCAGCTGAGCCGGGTCTGCCAGACAGTAGGGGGGACCCAGGAGAGGGGCCCATCCCGTATGGTTGGGCTGGGGGGAAGTGGAAAGCATTTTGCTTCATTGCTGAAGGCCTGGGCTCCAGGCCAGACCCCGCCTTCACATCTCTGCCCTTTCCTCCTGCACAGGGACCAAAGGGGGCCCCAGGAAAGCCGGGGAAACCAGGAGAGGCTGGGCTGCCGGGACTGCCGGGTGTGGATGTGAGTGCGCCTGCCCCTCCTCCCCGCCATGCCCCACTCCCCGCTCCGGGTCCCTGGAGGAGTCCGGCCCTAATTGCTGTTGTCCAGCTGGGCCTGCTCAGGCGGGAAGCCCAGTCCTGAGAGAAGTCTCCAGAAGTCCCCAACAGGGGTCCTTTGGCCTTCATCCCAGACGCCACCAGCATCTGGCAGGGGACAGAGCCAGCCCAGTGGAGTCGGAAGTCCCGCCAGCCCTCCTTGCTTGTCCAGGAATGAGTGCCCATTGTCAGGACCTTCTGCCCACTGCTGGCCTCACTTAGTCATCTTGGGCTCCAGGCCTGGCCCCAGGGCCACGGAGTTTTGTTCGGAGGAAGCCGGGCCTGAGAAGTGAGCTGTCCAGTCCTGCTGGGTTGGTCCCCGAGGCCTGACTACAGCAGGTGCCTCCGTTGCTGGCTTCCCGCTGGCTGCCCCCTCCCTCCTCCCAGAGCCTCTGGCTACAGCAGGCAGACAGTGGACAGGGCCAAGAGAGGAGGCTGCCACCCTAAGGGTCTTCTATGCCTCTCTGGACTCACCAAGGGAAGGGTCCGTGCTTCCATTTTTGCCTGGGGGGTGGCATGTGCTTCCCATGTGGCCCCTCGAGCTCGCCCTCTGCCTCTCCCCAGGGTCTGACTGGACGAGATGGACCCCCTGGACCCAAGGGTGCCCCTGGGGAACGGGTAAGTGCCTGCGCCGAACCCAGTGGCTTGGGTTCAGAGGTGAGGTCCCCTGGCCACCTCTGGCTGCTCTGTGTCCACAAGGCCAAGGAGCTGGTAGTTCCAAGGACAGCTGCCCTGCCCGTGCCTGGGGTGGAGGGGCAGAAGGGCAGGGTGCCAAGTGGCCAGTCCCCTGTGCCTGCCTCCCTGCCTCACCTCCACGTATGGTCAGAGTTGTCCTGGTATCCAGACCATGGCAGGGAGAAGGGGGATGGTTTGGGGGAACCCACCCCAGGTGCCTCCTCAGAATGTCCCTGAAGCCCCCAGGGCCCTGGGCAGACCACCACCAGGGACCCCCGGGCACGCAGCCTGCAGAGTCCCCTGTGCCTGCCTGTTGGACACTGAATCCTTTACCCTGACGGAGCGGCACCACCACCCAAGGGTGCCTTTCTCCCCTTGTGGCTTCTGAGTACAAACCCGAAGCCAGCATTCTCTCTTTGGCTTCATAAGACGTGGCTGTCAGCCAACCGGGTGCCACTGGCCCCAGGCGCAAAGCATCACAGAGGGCAGGAAGGCTGGGCTGGGGACACGAGGACACAGCCCTGCCCTTGGGACCCTTGGGAGCTCGTCAGGCATGAGGCGGATTCTGAGCTGAAAACAGGAGGGAAACAGTAGCTGCTGGCAGCCGAGTCCGTGGTGCCCAGGGGTGTGGGGTGGGCTGGTCCCCAGGCTTTCAGGAGGGGCCTCCAGCCTCAGCACAGGGCCCGTGCGTGCCGTCCAGGGAATGAGGCATTTCAGGCAGCAGGGGCCAGACAGGGCCCAGAGGGTGTGGAGGGCAGACAGGGCCTGGCTGCCCAAGGCTCTGGGGCTCGCTGACGTGGGCGGGGGCTGAGGACTCAGCAGGCTCCGTGGGTGGGTTATCGGGAGGGCTTCCTGGTGGAGACAGGCACCCCGGGTCACTTCGGTGCCTCTCAGCCCTGCCTCAGGTTGCACCTTCTTGCAGCGAGCGCTGGGACTCTGGTGCCATCTGTCTCCAGCAGCTCCCCAGGACGGCAAAGACCCTCCAGGTCAAGAGGGCTCAGAGGCCCTGCCCCTCTGTGAAGTGGGGACTTGGACCCTGTTGTCCTGGGAGTTGGAGTTGTGACGTCACACTTCAGAGGGAGGGGATTGGGTTTGCAAATAGAGGCCCAGCCCAACCTAGACGCCTGCTTTCCTCCCACAGGGAAGTCTGGGACCCCCGGGGCCGCCCGGGCTGGGGGTGAGTATGGAGTGTGGTCCTCTCCTCTCCATGGGAGTTTGGGGAGCTGGAGAGTCTGGTCTAAATGGGGTGGCCTCCAGGAATCCCAGGGACCATCCCTGGCCCTCTCATCTGCAGCCTCTCCGGAGGCTGGTGC
|
benign
| 315,709 |
Evaluate the clinical significance of the mutation at chromosome 20, position 62824452 in gene COL9A3 (collagen type IX alpha 3 chain): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Connective_tissue_disorder']
|
TTGTCACATGCCCTGTGGGTGGGCCAGCAGCTCCCAGCACTGGCCACTTGGGGGACAGGATGAAGGGTCTCCAAGTCCCCTGGTGGATGGGGAAGGTTGTGGTCCGTCAGAGAGTGGGTGGGTGGGTTGGGTGGCTGCAGGTGGCTGGGGAGGGCGGGAGAATGTCAGCTGTCTCTTTTTGTCTTAGGGACACCCAGGAGTCCTCCCTGAAGGCGCTACTGACCTTCAGGTAGGCACTTGAAGCCATTTGTTAAGGGTGCTGGGGGGTGCCTACCTTGGGGGGAGGGGTTCTGGCCTGGAGAGGGGCTTGTCCATACTGGCAAGAAGGCAGGGCCCGAGCCCTCCCTGGGGACAGGAGCTCAGAGCAGACAGCTCGGGCACAACCTGGCAGAGAGGCTGGCTGGGACCTCCCCCTCCCCCTTCCCACCCTCCTCACCACCGTCTAGACCTGCACTGTCCCTCATGAAGCCACCAGGCGCATGGAGCTGTACAAATGTAATGAATCACAATCATGTCACAGAGCCATCCAGCTCCCCTGCGTCATCCGCAGAGGGCGCCCTTGGCCACAGATGGCGACAGAACTGGAGTCTGGGACCCACCTTTATCTTGATCTTTGAGCCTTGTCATTTGCCTGAAAAGAAAACAGGCTCAGGTCAGGCGCAGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCCAGACAGGAGGATCGCTTAAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGATCTTTGTCTCTACAAAAAATTGTTAAAGTAGCCAGACGTGGTGGCGTGCCTGTTGTCCTAGCTACTTGGATGGCTGTGGTGGGAGGATCACTTGAGCCCAGGAGGCAGTGGTTGCAGGGTGCTGTGATCAAGCCACTGCACTCCAGCGTGAGCAGCCAAGCTCAAGCCTGTCTCAAAAAAATGAAGAGGAAAGAAAATGGGCTTCGGAGGCCACGGATCCATCTCTCCTCTCTGTTTGGCCGTCCGTGGTGGCAGTCAGCGCCTTGTTTCCATAGAGAGGTTTGATAGTTTTGAAGGGAAAAGCTCGGCCCACTCTGACCTGACCACCGACGCTGTCTACCAGCCTCTCTCCTCACCCCACCCCGGGGCCTAGGTGCCTGGCCAGCCTGTGTCCCAGAAGGGAGGCTTTAGGGAACCTTCCAGAATGTGGTGCGTGGTTGGGCCCCCGATCGTGGGCTGAGTGGGGCAGGGGCTGAAGATACGGGTCTGCACCCTTGGCCTGGCCTGCCCATTGCAGCTGTAGGATCATCTAGAAGCAGCCCTGGGTTTCCTGAGCATCAGACCTGTTGCCTGGGCTCACAGTGCCCCTCCTAAAAGCCCCATGCCGAGCACATTCCTGTGCTGAGGATGGGCCCGACCTGAGGCTGCTGCAAGGCCCCCTGCAGTGCCGGCCGGGACTGTGCTGAATGGCTGCTTTGATAGCCAGTGTCTGCCGTGGGGCCGGCTGCTCCATGCAGCCCCTGCTGCACTTGGCCAGTGCTGAAGGAGACCCTGTCTGTGTCCTGTCCCAGTGCCATCACCTGTACGGAGTGGCCTCCTGGGGTCCCGTCACTGTGTGGAGTGGCCTCCTGGGGTCCCGTCACTGTGTGGAGTGGCCTCCTGGGGTCCTGTCACCCAGAGTGTCCCGACACCCGCGCGGAGTGGCCTCCTGGGGCCCCGTCACCCACGCGGAGTGGCCTCCTGGGGTCCCGTCTCTGTGTGGAGTGGCCTCCTGGGGTCCTGTCACCCAGAGTGTCCCGACACCCGCGCGGAGTGGCCTCCCGGGGCCCCGTCACCCACGTGGAGTGGCCTCCTGGGGTCCCATCATCTGTGCGGAGTGGCCTCCTGGGGTCCCGTCACTGATGCGGAGTGGCCTCCTGGGGTCCTGTCACCATGAGGAGTGGCCTCCCGGGGTCCCGTCACCGTGCAGAGTGGCCTCCTGGGGTCCCGCGGGCGCTGACCCCTGCGTCGGACGTCCTGCTCTGTTTGGCTGGGAGGGGTCTGACTGCTCTGTTTTCCGACAGTGCCCAAGTATCTGCCCGCCAGGTCCCCCAGGGCCCCCTGGAATGCCAGGGTTCAAGGTGAGTCACGGGTGACTGGGACCCAAGCACCACCCTGTGCTGGGCAGGAGGCAGCTGGGCTCCCATGGGGCTGTGGAGGTGGCGGGTCCAGAAAGCTGGACCCTGGTTCCAGGGTTGCCCCAGGAAGAAAGCTAGGCCAGCCTCCTTGTCCCGCCTTCAGCACCCCAGTGACACGCTGATGTGGCCAGGCTGGGACTGGCCATAGGCGTCAGAGACTGCGGGGGAGAGCTAGCCTCAAGCTCCCACCCCAGCCCAGCCCTGGCCCGCTCCTGACCGCAGAGCGCCCTCATGTGGGTCCTAGCGCCTCTCAGGCCTCAGTTTCCCCATGAGGGCCCAGACCCGCGGTCCTGTGCGCTGCCGTGTGGCGGGCCCTGGGCTGACTGACCCTGCAGGCCTCACTTCAGTGTTGCCAGGGAGGGGGTGTCGGGGGGTCTGGGTGGGGCAGTGACCCCACATTTGCTTGCAGGGACCCACTGGCTACAAAGGCGAGCAGGGGGAAGTCGGCAAGGACGGCGAGAAGGTGAAGCTGCCGCACAGCAGCTGGGGAGGAGCTGGGGACTGGAGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGACCGTTTCATGGGTGCACCTGCACTGGCACCTTCTGTGCCTGTCTTCCAGACAGGGCCTGGCTGGTCAGAGCTGGGTGATTTAGGCAGGGTCCCTGGACAGACCCCGTCCTGCCTGGCCTCGCTGTGGAAGCTCCCTGGTTTGTGTCTGTGGCCGGGGCGAGGGGCATCTGTGAGGATGGCTGGCTTTAGCCTGTAGCCTCCCCTCACCTGTGGTCGCTGTCCGTGGAGGGTGTCTGTCCATGGTCACCTGCAGGCCGGGGGACCAGGTCTGGGATGCCCTTTAGCGTGGCTGGAGTGATCAGATGAGGAGACCCCAGGTGCACATCAGAGGGGTCCCTGCTTGGCCACGAGGAGGGGCCTGGACAGGGCTGAAGGGCCTTGTGGGAACAGTGACCACGGACCCCGGCCCGGCAGGGCGAGGCCACCGAGACTCGCGGGACTGCTCTGGAACTGTGGGCAAGTGTCCCCTTCACAGAGCCTCCAAGGCCCAGCTGTGAAGGGGGCAACACCCCCAGCTGCTTGGGCTTGAGTAGGGTGACTGGAGGCACCGAAAGGTGCAAGGAGAGCCAGACTGGGCCGCTGACCACCCTATCCCCTCTGTTTCAGGGTGACCCTGGCCCCCCTGGGCCCGCCGGCCTCCCGGGCAGCGTGGGGCTGCAGGTGAGGCTAGGAAGGGGTAAGGATGGTGGGATGGGAACTCAGCCCACAGAGTGATCAAGCCCTGCACATATCTACCCCCGAGGGGGCCAGCTCCGGCTGGGGGGTGTTTGGCCAACACCCAGGCACAGGAGCGCGACCTGGCTGGGGGTCCCACCTCTGCCAAGGCTGCTGACCTCAAGGCTGGTGCCCCCTCCCTCTGGGGGACCTGAGCTGAGGCTGAGGGCTCATGGAAGACACCAGGGCTCCCAGGGGTACCCCGAGGGCCTTGGCCCTGGGTGCTCCCCGGGGTGGAGGTGCAGCCCCAGCCTCTGCATCTGTGCCTCTCTCTCGCAGGGCCCCCGGGGATTACGAGGACTGCCAGGGCCACTCGGGCCCCCTGGGGACCGGGTAAGTCCTGCAGCCCCTAGTGGGGGCCGGCCAGGTGGCTGGGGGCCTGGTTGTCTGCACCTCCAGACTTCAGATGGGCCCCGTGAGTGACACTCTGAAGCAGCCGGCACCCTGGCTCTGGCCATCGCCACTGTGGCGCAGGCCTTGCTCTGGGCCCCTGTTCTCGCATGTGCCTGGGCGAGAGCTGACAGTCGGCGCTCACTGATGCCCGCACGCGGTCCCAGGCTGCTGTGAGGGCTATT
|
TTGTCACATGCCCTGTGGGTGGGCCAGCAGCTCCCAGCACTGGCCACTTGGGGGACAGGATGAAGGGTCTCCAAGTCCCCTGGTGGATGGGGAAGGTTGTGGTCCGTCAGAGAGTGGGTGGGTGGGTTGGGTGGCTGCAGGTGGCTGGGGAGGGCGGGAGAATGTCAGCTGTCTCTTTTTGTCTTAGGGACACCCAGGAGTCCTCCCTGAAGGCGCTACTGACCTTCAGGTAGGCACTTGAAGCCATTTGTTAAGGGTGCTGGGGGGTGCCTACCTTGGGGGGAGGGGTTCTGGCCTGGAGAGGGGCTTGTCCATACTGGCAAGAAGGCAGGGCCCGAGCCCTCCCTGGGGACAGGAGCTCAGAGCAGACAGCTCGGGCACAACCTGGCAGAGAGGCTGGCTGGGACCTCCCCCTCCCCCTTCCCACCCTCCTCACCACCGTCTAGACCTGCACTGTCCCTCATGAAGCCACCAGGCGCATGGAGCTGTACAAATGTAATGAATCACAATCATGTCACAGAGCCATCCAGCTCCCCTGCGTCATCCGCAGAGGGCGCCCTTGGCCACAGATGGCGACAGAACTGGAGTCTGGGACCCACCTTTATCTTGATCTTTGAGCCTTGTCATTTGCCTGAAAAGAAAACAGGCTCAGGTCAGGCGCAGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCCAGACAGGAGGATCGCTTAAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGATCTTTGTCTCTACAAAAAATTGTTAAAGTAGCCAGACGTGGTGGCGTGCCTGTTGTCCTAGCTACTTGGATGGCTGTGGTGGGAGGATCACTTGAGCCCAGGAGGCAGTGGTTGCAGGGTGCTGTGATCAAGCCACTGCACTCCAGCGTGAGCAGCCAAGCTCAAGCCTGTCTCAAAAAAATGAAGAGGAAAGAAAATGGGCTTCGGAGGCCACGGATCCATCTCTCCTCTCTGTTTGGCCGTCCGTGGTGGCAGTCAGCGCCTTGTTTCCATAGAGAGGTTTGATAGTTTTGAAGGGAAAAGCTCGGCCCACTCTGACCTGACCACCGACGCTGTCTACCAGCCTCTCTCCTCACCCCACCCCGGGGCCTAGGTGCCTGGCCAGCCTGTGTCCCAGAAGGGAGGCTTTAGGGAACCTTCCAGAATGTGGTGCGTGGTTGGGCCCCCGATCGTGGGCTGAGTGGGGCAGGGGCTGAAGATACGGGTCTGCACCCTTGGCCTGGCCTGCCCATTGCAGCTGTAGGATCATCTAGAAGCAGCCCTGGGTTTCCTGAGCATCAGACCTGTTGCCTGGGCTCACAGTGCCCCTCCTAAAAGCCCCATGCCGAGCACATTCCTGTGCTGAGGATGGGCCCGACCTGAGGCTGCTGCAAGGCCCCCTGCAGTGCCGGCCGGGACTGTGCTGAATGGCTGCTTTGATAGCCAGTGTCTGCCGTGGGGCCGGCTGCTCCATGCAGCCCCTGCTGCACTTGGCCAGTGCTGAAGGAGACCCTGTCTGTGTCCTGTCCCAGTGCCATCACCTGTACGGAGTGGCCTCCTGGGGTCCCGTCACTGTGTGGAGTGGCCTCCTGGGGTCCCGTCACTGTGTGGAGTGGCCTCCTGGGGTCCTGTCACCCAGAGTGTCCCGACACCCGCGCGGAGTGGCCTCCTGGGGCCCCGTCACCCACGCGGAGTGGCCTCCTGGGGTCCCGTCTCTGTGTGGAGTGGCCTCCTGGGGTCCTGTCACCCAGAGTGTCCCGACACCCGCGCGGAGTGGCCTCCCGGGGCCCCGTCACCCACGTGGAGTGGCCTCCTGGGGTCCCATCATCTGTGCGGAGTGGCCTCCTGGGGTCCCGTCACTGATGCGGAGTGGCCTCCTGGGGTCCTGTCACCATGAGGAGTGGCCTCCCGGGGTCCCGTCACCGTGCAGAGTGGCCTCCTGGGGTCCCGCGGGCGCTGACCCCTGCGTCGGACGTCCTGCTCTGTTTGGCTGGGAGGGGTCTGACTGCTCTGTTTTCCGACAGTGCCCAAGTTATCTGCCCGCCAGGTCCCCCAGGGCCCCCTGGAATGCCAGGGTTCAAGGTGAGTCACGGGTGACTGGGACCCAAGCACCACCCTGTGCTGGGCAGGAGGCAGCTGGGCTCCCATGGGGCTGTGGAGGTGGCGGGTCCAGAAAGCTGGACCCTGGTTCCAGGGTTGCCCCAGGAAGAAAGCTAGGCCAGCCTCCTTGTCCCGCCTTCAGCACCCCAGTGACACGCTGATGTGGCCAGGCTGGGACTGGCCATAGGCGTCAGAGACTGCGGGGGAGAGCTAGCCTCAAGCTCCCACCCCAGCCCAGCCCTGGCCCGCTCCTGACCGCAGAGCGCCCTCATGTGGGTCCTAGCGCCTCTCAGGCCTCAGTTTCCCCATGAGGGCCCAGACCCGCGGTCCTGTGCGCTGCCGTGTGGCGGGCCCTGGGCTGACTGACCCTGCAGGCCTCACTTCAGTGTTGCCAGGGAGGGGGTGTCGGGGGGTCTGGGTGGGGCAGTGACCCCACATTTGCTTGCAGGGACCCACTGGCTACAAAGGCGAGCAGGGGGAAGTCGGCAAGGACGGCGAGAAGGTGAAGCTGCCGCACAGCAGCTGGGGAGGAGCTGGGGACTGGAGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGACCGTTTCATGGGTGCACCTGCACTGGCACCTTCTGTGCCTGTCTTCCAGACAGGGCCTGGCTGGTCAGAGCTGGGTGATTTAGGCAGGGTCCCTGGACAGACCCCGTCCTGCCTGGCCTCGCTGTGGAAGCTCCCTGGTTTGTGTCTGTGGCCGGGGCGAGGGGCATCTGTGAGGATGGCTGGCTTTAGCCTGTAGCCTCCCCTCACCTGTGGTCGCTGTCCGTGGAGGGTGTCTGTCCATGGTCACCTGCAGGCCGGGGGACCAGGTCTGGGATGCCCTTTAGCGTGGCTGGAGTGATCAGATGAGGAGACCCCAGGTGCACATCAGAGGGGTCCCTGCTTGGCCACGAGGAGGGGCCTGGACAGGGCTGAAGGGCCTTGTGGGAACAGTGACCACGGACCCCGGCCCGGCAGGGCGAGGCCACCGAGACTCGCGGGACTGCTCTGGAACTGTGGGCAAGTGTCCCCTTCACAGAGCCTCCAAGGCCCAGCTGTGAAGGGGGCAACACCCCCAGCTGCTTGGGCTTGAGTAGGGTGACTGGAGGCACCGAAAGGTGCAAGGAGAGCCAGACTGGGCCGCTGACCACCCTATCCCCTCTGTTTCAGGGTGACCCTGGCCCCCCTGGGCCCGCCGGCCTCCCGGGCAGCGTGGGGCTGCAGGTGAGGCTAGGAAGGGGTAAGGATGGTGGGATGGGAACTCAGCCCACAGAGTGATCAAGCCCTGCACATATCTACCCCCGAGGGGGCCAGCTCCGGCTGGGGGGTGTTTGGCCAACACCCAGGCACAGGAGCGCGACCTGGCTGGGGGTCCCACCTCTGCCAAGGCTGCTGACCTCAAGGCTGGTGCCCCCTCCCTCTGGGGGACCTGAGCTGAGGCTGAGGGCTCATGGAAGACACCAGGGCTCCCAGGGGTACCCCGAGGGCCTTGGCCCTGGGTGCTCCCCGGGGTGGAGGTGCAGCCCCAGCCTCTGCATCTGTGCCTCTCTCTCGCAGGGCCCCCGGGGATTACGAGGACTGCCAGGGCCACTCGGGCCCCCTGGGGACCGGGTAAGTCCTGCAGCCCCTAGTGGGGGCCGGCCAGGTGGCTGGGGGCCTGGTTGTCTGCACCTCCAGACTTCAGATGGGCCCCGTGAGTGACACTCTGAAGCAGCCGGCACCCTGGCTCTGGCCATCGCCACTGTGGCGCAGGCCTTGCTCTGGGCCCCTGTTCTCGCATGTGCCTGGGCGAGAGCTGACAGTCGGCGCTCACTGATGCCCGCACGCGGTCCCAGGCTGCTGTGAGGGCTAT
|
pathogenic
| 315,738 |
Mutation found at chromosome 20 position 62830443, gene COL9A3 (collagen type IX alpha 3 chain): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
benign
|
TGTCCTGATTCCAAAACCAGTCCAGGGTGGACGAGGCAGGCCTGGCCTAAGGCCTCAGTTTCCCCACCGTAAAATGGGCCAGAACCAAACTTCCTTAGGGCACCATGATGTGCCTGGTGGACGAGGCCTCGGGCGTCAGCACTGCATCAGCACCGCCTCTGCCACCCACCCGCACCCCTCACCTGTGCGGTCACCGAGGCAGCACTGGTTGCCACACGGCCACCTTGGTCATGAAACCAGATAACTGCCAGGGTGTGGGGGCAGACACAGTTTTAGGTTGATGGGGAAGGAGGCTGCCCCCAGGGCAGGACTGTAGAGGGAGGGAGGGGGGCCACTGCCCGACGGGCCTTACTCATCCCTTGTCCCCAGGGCATGCCGGGCAAGGACGGCCAGAATGGCGTGCCAGGACTCGATGGCCAGAAGGTTGGCATGGGGCTCAGGGTGTGACGGGAGGGAGGGGGCTGGAGGGGAGTTCGGCCTCCCGAGGCCTCAGCCTCCCCTTCCGCACCCCAATCTCTGTCCTCACAGGGAGAGGCTGGTCGCAACGGTGCTCCGGGAGAGAAGGGCCCCAACGGGCTGCCGGTGAGTGCCCGGCGGGTGGGGCCAGCCTGGGGCGCCACAGCTTCTGCCTGCTCAGTGGCCCATGTTGGGCTGGGTGGGTTGGTCACTGTAGGGCCGACTCCCTGTGAGGGGTTCTGGGGCCTGTGTCCATCAGGGCCTGGCACAACCCCTGGTGCCCAGTGGGTGCTGTGGACGGTTGCCTGTATGTTTGCATGTGTGTGCTTATTCGTGTGTACATGGGACATGTGTGAACATGTTGATGGCCATCCCTGGATGCCGTGCGGTCATCACCCCCATGGGCTCTGAGTAGGGGCTCCTGCATCCAAGGCCAGGGAGGCTGTCAAAGCCGCACCTCAGGTCCACAAGGCTGGGAGAAGTTGGCCCTGCCTTTGGGTGCACTCACTCTGGCCCCTGCACCCTGCCTGCGTGCACGCCCCTGGGTGCTGCTGCCGGCGTGCAATGTAACTGGCAGCCCTGACCGCAAGCTCTCTCCTGGCAGGGCCTCCCTGGACGAGCGGGGTCCAAAGGCGAGAAGGGAGAACGGGTATGTGGCTGCAGCCGCTTTCTCTCTGGGAGGGGAGGCGAGGGGCCGGGAGGCAAGGGGCTGGGGGGCCAGCGACCTGGCCCCAGTGCAGGTGTAGGCAGGCACTCACAGCTCTCCTTCCTCTACAGGGCAGAGCTGGGGAGCTGGGTGAGGCCGGCCCCTCTGGAGAGCCAGGCGTCCCTGTGAGTATCTGCGGCGCCCCAGACCCCTCCCCATCCAGCCTGTGTGCAGACCCTGCCCTGACACCCTCCTTCCTTTCCCTGTAGGGAGATGCTGGCATGCCTGGGGAGCGCGGTGAGGCTGGCCACCGGGGCTCAGCGGTGAGTGCAGGGACATGGCCCGGGGTCGGGGGTTAGCACTGAGCCATTGGCACATGGCCCCAGTTTCTGAGCAGGCCGGGGTGGCATTTGGTTGCCTTGATGGGCCAGGCCCACAAAAGCCTAGGATGCCAGGAGGTGTGGGGCCCCATCTTCTTGTCCCTCACCCGCTGGGAGACGGTCGGGGCCAGGCCGGAGCTGCCCTGTTTTCAAGCCTTCTATGCTGAGCCCAGCCTTGTGCCCCCATAGACTGAGATAATGACAGCACCAGCCACAGGGCCCTGGTGGGGGGAGCCAGGGGCATGGGTGCCTGGCCCCGAGTCTGGCCTGACAAATTGGGTCCAGGGTATGCCTGAGTTCTGAGACCCCCTAAACTGCCCTGGGAGGTAGCCCTGCCTTTGTCCCCAGCAACCCAGCCAGGTGGCTTAGAACCGGCTCCTGTGTCCACCCACTCTGGGGGAAGGCTGAGCCAGGCTCCCTGGGGCCTCTTGGGGACTCCTCGAACCCTGAGACATCCGCTCACACCTCACCTTTGTCTTCCAGGGGGCCCTCGGCCCACAAGGCCCTCCCGGAGCCCCTGGTGTCCGAGGCTTCCAGGTGGGTGAGGTTGGGGCAAGGGCCTGGCATGGGGGGCGGCACACCCAGACGGGCCAGACCCGACAGGGTATGGGCACTGACGAGCCAGGACCTCCTTCCCCAGGGCCAGAAGGGCAGCATGGGAGACCCCGGCCTTCCAGGCCCCCAGGGCCTCCGAGGTGACGTGGGCGACCGGGTAAGTGGCCCTCTCAGCAGGAAGCTCCCCTGCACCCCCTCTACCCATGTACCACAGTCCCCCACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCAACCCCTACCACAGTCCCCCAACCCCCACCACAGTCCCCACCCCCTACCACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCTACCACAATCCCCCACCCCCCACCACAGTCCCCTGGGACGCAGACAGGGAGAGGCCCTTGCAGCTCCCAGTGGGAAATCTGGCCATGGGCAGTGTCTCCCTGCGTGGCGGAGGCAGTGGCATCAGGGCCCCGACTGTGGCGCCTTTGGCCCCTCTGACCTTCCACGTGGTGTTCCTTGTGGGTGGGAGGCTGCGGGAGCCTGGGCCGCTCTGCCTCCTGCCCTGCGTAGACGCCTGGCGGGACCTGCACACGGTCAGTGTTCATTCCTCGAGATTGGCGTGGAGGCTGAGGCTCAAGAGCCACGCCTGCTCCCGCCTAGCGGGTGTCTGCGGAGGCGCGGTTGACAGAGGATCACGTTGCTATAAAATAGGTTTGAACACCATGTCCCAAGTGACTGTAACGGTCACAGCTTCTACCTCGTCAAGACTTTTTCCTGCTGGTCTTGCAGCAGCTGCAGCATTAGCTCCTTGGGGGTCCGGGCAGAAGCGGGGCACGGCCTACCCAGGGCCCCAGCTCACTGGAAGGAGCCTGTGGGTCTGGTCTGGGCCCCAGCCATGCTCCACCAGGTCCTTGGGGACCTCGTGTGCCTGCTGTGGCCACCTCTGCTGGGCAGACAGACCCCTTTTTAGATGTCAATCCCGAGAAGCCTCCAGGACACGGCTGCAGATGCCCCGTCATTCCAGGGTGATGGTCATTCCAGGGTGATGGCCGGGGCTGTGGACACCACCACCCCATGGGGGATAGCGGGCTGTTTATTGGCCTCCAGGCAGGACATTCCAGAGGTGGGGGCCATGCCAGCAACCTCAGGGCCTCCGAGAGATGGCAGGGCTGGCACCCGCCCTGCGGGCACTGCGCCTGTCCCAGGTGTGGGTGGGGCCTGGTGGCTGAATTTCCCTTTCACTTTAAACTCACGGGAAAGTCTCCTGCTTTTCTGCCCTTTGGGCCAGTTCTCACTTATGTGGCCATGTGAGCAAATGGACATTTTTTAAAGGGATTCATAGCAACTCCCAGACATGTCCTCATTTCACAATGCCGGGGGAAGGTGATTAGATGAGCTTTTGCATCTTTGACTCTACTGTGACGGAATTATCCTGCAATTGTGCAGAAACACCCGCACGAATTCACGGGTGTTACAAACAGTGCAAACCTAACGGGACTTCACTACCCACAAGGGGAGGCTGGACAGAGCCATCGGGCCCAGAGGCTGTGAACGTGAGCTTGGCCTTTGGGCCTGTGTCTGGGAGCCGGTGTTCACAGAAGCCCTTTGTGCAGCACAGATGGAGATGTGGGGAGGTGTTTACCATTCCTGGGCCCAGGGCAGGCTCACTTTAGGGATTCCTGCCATTCCTCTAATCCAGAGCCTTCTCTCCACATCCAGGGTCCGGGAGGTGCCGCAGGCCCTAAGGGAGACCAGGTGAGCTGGGCACAGGCTGGGGCAAAAGGAATGAAGGCAAAGCTGCACAGCTTCTCCCAGGCTCCTCCTGTCCCGGCTCTGGCCCTGGCTGTGTTTTCGGGACACTGAGCCTCCTTTCTCCTCTTGCCGTGTCTGTCAGTCGCCCTTTCTGGCTCCTGCCCCTCCTGCTTAGCACAGCGAAAGCAGCTCTGGGCACCCAGCCCCCAGGCACGCCCCGGCATCCGCCGCTGCCTTCCTGGGTGCAAACAGCTGGCCAGAGTGTCCCTGCATGGCTCTGGGTGCAACAGAAGCTGCTTCTAGT
|
TGTCCTGATTCCAAAACCAGTCCAGGGTGGACGAGGCAGGCCTGGCCTAAGGCCTCAGTTTCCCCACCGTAAAATGGGCCAGAACCAAACTTCCTTAGGGCACCATGATGTGCCTGGTGGACGAGGCCTCGGGCGTCAGCACTGCATCAGCACCGCCTCTGCCACCCACCCGCACCCCTCACCTGTGCGGTCACCGAGGCAGCACTGGTTGCCACACGGCCACCTTGGTCATGAAACCAGATAACTGCCAGGGTGTGGGGGCAGACACAGTTTTAGGTTGATGGGGAAGGAGGCTGCCCCCAGGGCAGGACTGTAGAGGGAGGGAGGGGGGCCACTGCCCGACGGGCCTTACTCATCCCTTGTCCCCAGGGCATGCCGGGCAAGGACGGCCAGAATGGCGTGCCAGGACTCGATGGCCAGAAGGTTGGCATGGGGCTCAGGGTGTGACGGGAGGGAGGGGGCTGGAGGGGAGTTCGGCCTCCCGAGGCCTCAGCCTCCCCTTCCGCACCCCAATCTCTGTCCTCACAGGGAGAGGCTGGTCGCAACGGTGCTCCGGGAGAGAAGGGCCCCAACGGGCTGCCGGTGAGTGCCCGGCGGGTGGGGCCAGCCTGGGGCGCCACAGCTTCTGCCTGCTCAGTGGCCCATGTTGGGCTGGGTGGGTTGGTCACTGTAGGGCCGACTCCCTGTGAGGGGTTCTGGGGCCTGTGTCCATCAGGGCCTGGCACAACCCCTGGTGCCCAGTGGGTGCTGTGGACGGTTGCCTGTATGTTTGCATGTGTGTGCTTATTCGTGTGTACATGGGACATGTGTGAACATGTTGATGGCCATCCCTGGATGCCGTGCGGTCATCACCCCCATGGGCTCTGAGTAGGGGCTCCTGCATCCAAGGCCAGGGAGGCTGTCAAAGCCGCACCTCAGGTCCACAAGGCTGGGAGAAGTTGGCCCTGCCTTTGGGTGCACTCACTCTGGCCCCTGCACCCTGCCTGCGTGCACGCCCCTGGGTGCTGCTGCCGGCGTGCAATGTAACTGGCAGCCCTGACCGCAAGCTCTCTCCTGGCAGGGCCTCCCTGGACGAGCGGGGTCCAAAGGCGAGAAGGGAGAACGGGTATGTGGCTGCAGCCGCTTTCTCTCTGGGAGGGGAGGCGAGGGGCCGGGAGGCAAGGGGCTGGGGGGCCAGCGACCTGGCCCCAGTGCAGGTGTAGGCAGGCACTCACAGCTCTCCTTCCTCTACAGGGCAGAGCTGGGGAGCTGGGTGAGGCCGGCCCCTCTGGAGAGCCAGGCGTCCCTGTGAGTATCTGCGGCGCCCCAGACCCCTCCCCATCCAGCCTGTGTGCAGACCCTGCCCTGACACCCTCCTTCCTTTCCCTGTAGGGAGATGCTGGCATGCCTGGGGAGCGCGGTGAGGCTGGCCACCGGGGCTCAGCGGTGAGTGCAGGGACATGGCCCGGGGTCGGGGGTTAGCACTGAGCCATTGGCACATGGCCCCAGTTTCTGAGCAGGCCGGGGTGGCATTTGGTTGCCTTGATGGGCCAGGCCCACAAAAGCCTAGGATGCCAGGAGGTGTGGGGCCCCATCTTCTTGTCCCTCACCCGCTGGGAGACGGTCGGGGCCAGGCCGGAGCTGCCCTGTTTTCAAGCCTTCTATGCTGAGCCCAGCCTTGTGCCCCCATAGACTGAGATAATGACAGCACCAGCCACAGGGCCCTGGTGGGGGGAGCCAGGGGCATGGGTGCCTGGCCCCGAGTCTGGCCTGACAAATTGGGTCCAGGGTATGCCTGAGTTCTGAGACCCCCTAAACTGCCCTGGGAGGTAGCCCTGCCTTTGTCCCCAGCAACCCAGCCAGGTGGCTTAGAACCGGCTCCTGTGTCCACCCACTCTGGGGGAAGGCTGAGCCAGGCTCCCTGGGGCCTCTTGGGGACTCCTCGAACCCTGAGACATCCGCTCACACCTCACCTTTGTCTTCCAGGGGGCCCTCGGCCCACAAGGCCCTCCCGGAGCCCCTGGTGTCCGAGGCTTCCAGGTGGGTGAGGTTGGGGCAAGGGCCTGGCATGGGGGGGCGGCACACCCAGACGGGCCAGACCCGACAGGGTATGGGCACTGACGAGCCAGGACCTCCTTCCCCAGGGCCAGAAGGGCAGCATGGGAGACCCCGGCCTTCCAGGCCCCCAGGGCCTCCGAGGTGACGTGGGCGACCGGGTAAGTGGCCCTCTCAGCAGGAAGCTCCCCTGCACCCCCTCTACCCATGTACCACAGTCCCCCACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCAACCCCTACCACAGTCCCCCAACCCCCACCACAGTCCCCACCCCCTACCACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCTACCACAATCCCCCACCCCCCACCACAGTCCCCTGGGACGCAGACAGGGAGAGGCCCTTGCAGCTCCCAGTGGGAAATCTGGCCATGGGCAGTGTCTCCCTGCGTGGCGGAGGCAGTGGCATCAGGGCCCCGACTGTGGCGCCTTTGGCCCCTCTGACCTTCCACGTGGTGTTCCTTGTGGGTGGGAGGCTGCGGGAGCCTGGGCCGCTCTGCCTCCTGCCCTGCGTAGACGCCTGGCGGGACCTGCACACGGTCAGTGTTCATTCCTCGAGATTGGCGTGGAGGCTGAGGCTCAAGAGCCACGCCTGCTCCCGCCTAGCGGGTGTCTGCGGAGGCGCGGTTGACAGAGGATCACGTTGCTATAAAATAGGTTTGAACACCATGTCCCAAGTGACTGTAACGGTCACAGCTTCTACCTCGTCAAGACTTTTTCCTGCTGGTCTTGCAGCAGCTGCAGCATTAGCTCCTTGGGGGTCCGGGCAGAAGCGGGGCACGGCCTACCCAGGGCCCCAGCTCACTGGAAGGAGCCTGTGGGTCTGGTCTGGGCCCCAGCCATGCTCCACCAGGTCCTTGGGGACCTCGTGTGCCTGCTGTGGCCACCTCTGCTGGGCAGACAGACCCCTTTTTAGATGTCAATCCCGAGAAGCCTCCAGGACACGGCTGCAGATGCCCCGTCATTCCAGGGTGATGGTCATTCCAGGGTGATGGCCGGGGCTGTGGACACCACCACCCCATGGGGGATAGCGGGCTGTTTATTGGCCTCCAGGCAGGACATTCCAGAGGTGGGGGCCATGCCAGCAACCTCAGGGCCTCCGAGAGATGGCAGGGCTGGCACCCGCCCTGCGGGCACTGCGCCTGTCCCAGGTGTGGGTGGGGCCTGGTGGCTGAATTTCCCTTTCACTTTAAACTCACGGGAAAGTCTCCTGCTTTTCTGCCCTTTGGGCCAGTTCTCACTTATGTGGCCATGTGAGCAAATGGACATTTTTTAAAGGGATTCATAGCAACTCCCAGACATGTCCTCATTTCACAATGCCGGGGGAAGGTGATTAGATGAGCTTTTGCATCTTTGACTCTACTGTGACGGAATTATCCTGCAATTGTGCAGAAACACCCGCACGAATTCACGGGTGTTACAAACAGTGCAAACCTAACGGGACTTCACTACCCACAAGGGGAGGCTGGACAGAGCCATCGGGCCCAGAGGCTGTGAACGTGAGCTTGGCCTTTGGGCCTGTGTCTGGGAGCCGGTGTTCACAGAAGCCCTTTGTGCAGCACAGATGGAGATGTGGGGAGGTGTTTACCATTCCTGGGCCCAGGGCAGGCTCACTTTAGGGATTCCTGCCATTCCTCTAATCCAGAGCCTTCTCTCCACATCCAGGGTCCGGGAGGTGCCGCAGGCCCTAAGGGAGACCAGGTGAGCTGGGCACAGGCTGGGGCAAAAGGAATGAAGGCAAAGCTGCACAGCTTCTCCCAGGCTCCTCCTGTCCCGGCTCTGGCCCTGGCTGTGTTTTCGGGACACTGAGCCTCCTTTCTCCTCTTGCCGTGTCTGTCAGTCGCCCTTTCTGGCTCCTGCCCCTCCTGCTTAGCACAGCGAAAGCAGCTCTGGGCACCCAGCCCCCAGGCACGCCCCGGCATCCGCCGCTGCCTTCCTGGGTGCAAACAGCTGGCCAGAGTGTCCCTGCATGGCTCTGGGTGCAACAGAAGCTGCTTCTAG
|
benign
| 315,790 |
Variant in gene COL9A3 (collagen type IX alpha 3 chain), located at chromosome 20 position 62837213: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic
|
CGGTTAGACTGTGTCAGTCTGTATTCTGCAGCTGTAACAGAACACCGCAGCTTGGGTAGTTTACAAGGGAAAGAGATCCATGTGGCTCCTAGTTCTGGAGGCTGGGAAGCCCAAGACCGAGGGGTGCATCCATCGAGGGCCTCCCCACTGCGTCATTCCATGGTGGAAGGCAGAAGGGCCAAGAGGAGGTGCCAGAGAGAGAAAGGGGCCCAACCCATCCTTTTCATGAGGAACCCACTGCGGAGACAACGGTGTTAGTTTACTCCGGAGAGCCGAGCTCTCAAACCTAATCACCTCTTAATAGCATTGCAGTGCAGTGGCCGTTCAATTGCAGCATGTGTTTTGGAGGAGACATTAACCCGGCTGACTGTGTGTTGACGCACCTGGGGCCAGTCATTCCTGAGGACCCAGCTGGAGGGGGTTCCAGGGTTTTAGGGCAGAGAGGTTCAGCCCAGCATTAGGCGTGTTAGTAAGAAAAAGGAATGGAAGCAAAGTAAGCGTGTGTAAGAGACAGCACCGTGCAGCTAACAAAGTCACTCTTCCCAGGAAAGTAAGTTTTTAAAAAGCTTCAATCAATCAGTGCAATCACAGAAATATAAAAAATGTATATAGAAGAACGGAAGGAACCACTGTCAATATTTGGATGTAGTCTAATAGCAGGTGTGTGGATGATTTGATTTATTTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACCTCTGGGCAACCAGGCAGCCCTGCAGGGCACTGCCCAGATCCGAGATGTAAAAAAGCTTGCTCTGGTCAAGGCTGGGCAAGACGGCTCCGTGCCGGCTGGGAAAGAGCACGTCGGGGTGGCTCTGGGCTCCTGGGCTCGCCCCTGACCCACCTTCCTCTGTTCCTCTGCAGTCTGGCAGTCGAGGGGAGCTGGGCCCCAAAGGCACCCAGGGTCCCAACGGCACCAGCGGTGTTCAGGGTGTCCCCGGGCCCCCCGGTCCTCTGGGCCTGCAGGGCGTCCCGGGTGTTCCTGGCATCACGGGGAAGCCGGGAGTTCCGGTACGTCGCTTTTCCGGCTTTTCCAGCTTTCACAGGGTTGAGATCGTGTTTTTTCCGGAAGGAAGTTACTTTGCGGGGTGACGGTGGGAATGCCTCACCGAGGCTGCCGCCCCCATGCTGACGAATGTGTGGGGTGAATTCCAGGGGAAGGAGGCCAGCGAGCAGCGCATCAGGGAGCTGTGTGGGGGGATGATCAGCGGTAAGTCAGCCACGTGCACCGGCTGCAGCGGGGCCCATCCCCGCCTGGGGGTCCCGTGCCTGGGGCTACACAGAAAGCCTTCGTGCCACTGCTTTCCAGCCAAAGTGAGCCCCTAGCACTCACCCCGCCTGTTAGCCCTTGGGGGTCCACGTCCGCCTTGGCGTCTGCCTGTCCTCTGCGCTAGAGGATGGCCCACGCTCCCGCCCCGGATTCAACCAGATTCCCAGCACGCAGCAGACGCCCTAAAGCCTGCTGAATGCAATGGGTACAAGAACAGCGGAGTGTGCCCCTGTGGCTGGCAGGGCAGGTCCCTAAACACCCCCAAGGGCACTTCCTTCACCTTCCCACTCAGGCTTCTCAGGCTCCAAGGGGTTGGGGGTCCTTTCTAGCTCCAGCATTCATCACCCCAAAGCAGTTAAACCATTTTCCATCAATCAGAAGGAAAACTTGCTTCTGGAAGACAGCACCGTGTAGATATTTTATGCTTTACGTAACAATACTTCTGATGATCCTCTCTCGAGTAAACGCCTGCACCCTTGTTTTCCCAAAGAACAAATTGCACAGTTAGCCGCGCACCTAAGGAAGCCTTTGGCACCCGGGTCCATTGGTCGGCCCGGTCCAGCTGGCCCCCCTGGGCCCCCAGGACCCCCAGGCTCCATTGGTCACCCTGGCGCTCGAGGACCCCCTGGATACCGCGGTCCCACTGGGGAGCTGGGAGACCCCGGGCCCAGAGGTGAGTGTTTGACCCCATGACACGGTCACCCTGCTGTAAAAATCCCTGAGACTGACTTGTTAGTAGGCGCTGCTTCTGGTGCCTGCCATGCGCCCTCAGGGGTAACCCCTGGAACGTGGGGGCCTCTCATGTTTTGGGGCCTAGCGCAGTTAACTCCTTGGTAATCCTGTGGGAACTGGAACATTTTTAACATGTGATGTTTTTCTCAAATACCATTAGAACAATATTTGGCAGGGAGGGATTGATTTAAAATGTGACGAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGGGGCTGAGGTGGGCAGATCACGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCTGAAGGCAGAGGTTGCAGCGAGCTGAGATCGCACCATTGCACTCCAGCTTGGGCGACAGAGCGAGACTCCGTCTCCATAAAAGAAAAAAAAAATGTGAGGAATGGCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGACGAGGCAGGTGGATTACTGGAAGTCAGGAGTTCAAGACCAGCCTGGTCAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAATTAGCCAGGCAAAACACAGATGTAAGATTTGAATGACGCAATTAGAGGGATGTGAAAATGCCCTTAGGTGAACCATGGGTGGAAAATCATTTAAAACATGATTACAAAATATTAATAAATACTCAACTGCTTAATAGGCATAAATATTTTGAACAAAACTAAAATCCCATTTAAATTGGCTGCCAGAGGTCAGGGAGGTGGTTCAGCCGTGCACGGCTCAGCAGCAGGCATAGGTTCTGACGGCTGTGCCACTGGGCGGTTTCACTGTGGAACATCTGAGTTCACTTACGCAAGCCCGGCCTCCTGCACCCCTGGGCCGTGTGCCAGAGCCTGGGGTTTATGGCTGCAGACCTGCACAGCCTGTTACTGGGCTGGGTCTTGTGGGCGGTTCTAACCTGGTGGTGGGTATCTGTGTTAAATACATCCAAACACGGGAAAGGAATGGTAAAAATTGGGTATGATAATCTTAAGGGACCACTGTCACCTATGCGGTGCGTCGTCCACCTGCAGCCGTCCTGCAGTCTAAGACTGTGTACAGGTGGGTCCCTCTCGTCGGACCCCGTCAAGCCCTACGCGTGTGACATCTGTACTTTTCTAAATGTTTCCACTTCAGTGAAAAGCTGGCACCCTGTTTGTTACAAAGGTTGATCAGACACCGCTGTGGTGTGGCTGCAACAGATACTCTAACCATATGTCTGTGTCCACACCTCGTGACAGGAAACCAGGGTGACAGAGGAGACAAAGGCGCGGCAGGAGCAGGGCTGGACGGGCCTGAAGGAGACCAGGGGCCCCAAGGTACGAGTCCACGGCCAGCAAGGCTTCACTGGGTGACATCTCTTCCGCCATCTTGTAGCTTTATGTGGGGCGTGCTTGGGTTATGAATGGGTCTCTTTTCCTCTTCTCTTGGCAAAGCAGTCTTAGAGACAAGATTAGGAATTGTCTCAATAACCACTTTAATACATAAAAGTTTAATCGGGGCTGGGCGCGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGACGGATAACCTGAGGTCAGCAGTTTGAGACCAGCCTGGCCAACACAGTGAAACCCCATCTGTATTAAAAATACAAAAATGAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGATACTTGGGAGGCTGAGACAAGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGGTTGCAGTGAGCCAAGATGGCGCCACTGCCTTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGTTTAATCAGTAAGCAGA
|
CGGTTAGACTGTGTCAGTCTGTATTCTGCAGCTGTAACAGAACACCGCAGCTTGGGTAGTTTACAAGGGAAAGAGATCCATGTGGCTCCTAGTTCTGGAGGCTGGGAAGCCCAAGACCGAGGGGTGCATCCATCGAGGGCCTCCCCACTGCGTCATTCCATGGTGGAAGGCAGAAGGGCCAAGAGGAGGTGCCAGAGAGAGAAAGGGGCCCAACCCATCCTTTTCATGAGGAACCCACTGCGGAGACAACGGTGTTAGTTTACTCCGGAGAGCCGAGCTCTCAAACCTAATCACCTCTTAATAGCATTGCAGTGCAGTGGCCGTTCAATTGCAGCATGTGTTTTGGAGGAGACATTAACCCGGCTGACTGTGTGTTGACGCACCTGGGGCCAGTCATTCCTGAGGACCCAGCTGGAGGGGGTTCCAGGGTTTTAGGGCAGAGAGGTTCAGCCCAGCATTAGGCGTGTTAGTAAGAAAAAGGAATGGAAGCAAAGTAAGCGTGTGTAAGAGACAGCACCGTGCAGCTAACAAAGTCACTCTTCCCAGGAAAGTAAGTTTTTAAAAAGCTTCAATCAATCAGTGCAATCACAGAAATATAAAAAATGTATATAGAAGAACGGAAGGAACCACTGTCAATATTTGGATGTAGTCTAATAGCAGGTGTGTGGATGATTTGATTTATTTTATCCTCAACTGGCTACTTCCCACCCACCCAACAATACACTTAGTTCAAACACACAACTTTTCTCTTCACAGGGTCCCAGCGGCCTGGTCGGACCCAAAGGAGAGGTGAGTGCCCGGCGACTGTTCCGATGACACCATCCATGGGCGCCTGCTGGCTTCCTGCCCACCTCTGGGCAACCAGGCAGCCCTGCAGGGCACTGCCCAGATCCGAGATGTAAAAAAGCTTGCTCTGGTCAAGGCTGGGCAAGACGGCTCCGTGCCGGCTGGGAAAGAGCACGTCGGGGTGGCTCTGGGCTCCTGGGCTCGCCCCTGACCCACCTTCCTCTGTTCCTCTGCAGTCTGGCAGTCGAGGGGAGCTGGGCCCCAAAGGCACCCAGGGTCCCAACGGCACCAGCGGTGTTCAGGGTGTCCCCGGGCCCCCCGGTCCTCTGGGCCTGCAGGGCGTCCCGGGTGTTCCTGGCATCACGGGGAAGCCGGGAGTTCCGGTACGTCGCTTTTCCGGCTTTTCCAGCTTTCACAGGGTTGAGATCGTGTTTTTTCCGGAAGGAAGTTACTTTGCGGGGTGACGGTGGGAATGCCTCACCGAGGCTGCCGCCCCCATGCTGACGAATGTGTGGGGTGAATTCCAGGGGAAGGAGGCCAGCGAGCAGCGCATCAGGGAGCTGTGTGGGGGGATGATCAGCGGTAAGTCAGCCACGTGCACCGGCTGCAGCGGGGCCCATCCCCGCCTGGGGGTCCCGTGCCTGGGGCTACACAGAAAGCCTTCGTGCCACTGCTTTCCAGCCAAAGTGAGCCCCTAGCACTCACCCCGCCTGTTAGCCCTTGGGGGTCCACGTCCGCCTTGGCGTCTGCCTGTCCTCTGCGCTAGAGGATGGCCCACGCTCCCGCCCCGGATTCAACCAGATTCCCAGCACGCAGCAGACGCCCTAAAGCCTGCTGAATGCAATGGGTACAAGAACAGCGGAGTGTGCCCCTGTGGCTGGCAGGGCAGGTCCCTAAACACCCCCAAGGGCACTTCCTTCACCTTCCCACTCAGGCTTCTCAGGCTCCAAGGGGTTGGGGGTCCTTTCTAGCTCCAGCATTCATCACCCCAAAGCAGTTAAACCATTTTCCATCAATCAGAAGGAAAACTTGCTTCTGGAAGACAGCACCGTGTAGATATTTTATGCTTTACGTAACAATACTTCTGATGATCCTCTCTCGAGTAAACGCCTGCACCCTTGTTTTCCCAAAGAACAAATTGCACAGTTAGCCGCGCACCTAAGGAAGCCTTTGGCACCCGGGTCCATTGGTCGGCCCGGTCCAGCTGGCCCCCCTGGGCCCCCAGGACCCCCAGGCTCCATTGGTCACCCTGGCGCTCGAGGACCCCCCTGGATACCGCGGTCCCACTGGGGAGCTGGGAGACCCCGGGCCCAGAGGTGAGTGTTTGACCCCATGACACGGTCACCCTGCTGTAAAAATCCCTGAGACTGACTTGTTAGTAGGCGCTGCTTCTGGTGCCTGCCATGCGCCCTCAGGGGTAACCCCTGGAACGTGGGGGCCTCTCATGTTTTGGGGCCTAGCGCAGTTAACTCCTTGGTAATCCTGTGGGAACTGGAACATTTTTAACATGTGATGTTTTTCTCAAATACCATTAGAACAATATTTGGCAGGGAGGGATTGATTTAAAATGTGACGAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGGGGCTGAGGTGGGCAGATCACGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCTGAAGGCAGAGGTTGCAGCGAGCTGAGATCGCACCATTGCACTCCAGCTTGGGCGACAGAGCGAGACTCCGTCTCCATAAAAGAAAAAAAAAATGTGAGGAATGGCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGACGAGGCAGGTGGATTACTGGAAGTCAGGAGTTCAAGACCAGCCTGGTCAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAATTAGCCAGGCAAAACACAGATGTAAGATTTGAATGACGCAATTAGAGGGATGTGAAAATGCCCTTAGGTGAACCATGGGTGGAAAATCATTTAAAACATGATTACAAAATATTAATAAATACTCAACTGCTTAATAGGCATAAATATTTTGAACAAAACTAAAATCCCATTTAAATTGGCTGCCAGAGGTCAGGGAGGTGGTTCAGCCGTGCACGGCTCAGCAGCAGGCATAGGTTCTGACGGCTGTGCCACTGGGCGGTTTCACTGTGGAACATCTGAGTTCACTTACGCAAGCCCGGCCTCCTGCACCCCTGGGCCGTGTGCCAGAGCCTGGGGTTTATGGCTGCAGACCTGCACAGCCTGTTACTGGGCTGGGTCTTGTGGGCGGTTCTAACCTGGTGGTGGGTATCTGTGTTAAATACATCCAAACACGGGAAAGGAATGGTAAAAATTGGGTATGATAATCTTAAGGGACCACTGTCACCTATGCGGTGCGTCGTCCACCTGCAGCCGTCCTGCAGTCTAAGACTGTGTACAGGTGGGTCCCTCTCGTCGGACCCCGTCAAGCCCTACGCGTGTGACATCTGTACTTTTCTAAATGTTTCCACTTCAGTGAAAAGCTGGCACCCTGTTTGTTACAAAGGTTGATCAGACACCGCTGTGGTGTGGCTGCAACAGATACTCTAACCATATGTCTGTGTCCACACCTCGTGACAGGAAACCAGGGTGACAGAGGAGACAAAGGCGCGGCAGGAGCAGGGCTGGACGGGCCTGAAGGAGACCAGGGGCCCCAAGGTACGAGTCCACGGCCAGCAAGGCTTCACTGGGTGACATCTCTTCCGCCATCTTGTAGCTTTATGTGGGGCGTGCTTGGGTTATGAATGGGTCTCTTTTCCTCTTCTCTTGGCAAAGCAGTCTTAGAGACAAGATTAGGAATTGTCTCAATAACCACTTTAATACATAAAAGTTTAATCGGGGCTGGGCGCGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGACGGATAACCTGAGGTCAGCAGTTTGAGACCAGCCTGGCCAACACAGTGAAACCCCATCTGTATTAAAAATACAAAAATGAGCCGGGCGTGGTGGCGGGCGCCTGTAATCCCAGATACTTGGGAGGCTGAGACAAGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGGTTGCAGTGAGCCAAGATGGCGCCACTGCCTTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGTTTAATCAGTAAGCAG
|
pathogenic
| 315,843 |
Chromosome 20, position 63355942, gene CHRNA4: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
GTGGTCCTGGGGGGCTGTGGTCCTGGGGGGCTGTGGTCCTAGGGGGCTGTGACCCTCGGGGGGGCTGCGGTCCTGGGAGGTCTGTGGTCCTGGGGGGCTGTGGTCCTGGCGGGGGGGCTGCGGTCCTAGGGGTGTTGTAGTCCTAGGGGGCTGTGGTCAGGCAAGAACTGTGATCCTTGTGGGGGCTGCAGTTCTGCAGGAGGCACTGTAGCCCTAGGGTGGGATGAAGTCCTGGGAGGACTGTGGTCCTGGCAGGGAATGTGGTCCTGGGGGCCTGTGGTCCTGGGGGGCTGTGGTCCTGGGGGGGCTGTGGTCCTGGGGGGCTGTGGTCCTAGGGGGCTGTGGTCCTAAATGGGGCTGTGGTCCTGGGGGGCTGTAGTCCTGGGGGGCTGTGGTCCTAGGGGGCTGTGGTCCTGGGGGGGAGCTGCTGTCCTAGGGGTGTTGTAGTCCTAGGGGGCTGTGGTCAGGCAAGAACTGTGATCCTTGTGGGGGCTGCAGTTCTGCAGGAGGCACTGTAGCCCTAGGGTGGGATGAAGTCCTGGGAGGACTGTGGTCCTGGCAGGGAATGTGGTCCTGGGGGCCTGTGGTCCTAGGGGGCTGTGGTCCTAGAGGAACTGTGGTCCTGGGGGAGCTGTGAACCTGGTGGGGGCTGCAGTCTTTGGAGGGCCGTGGTCCTGGTGAGGCTGTGGAAGTGGGGGGGGCTGCAGTACTCGGGGGGCTGTGGTCCTGGGGGTTTGAGGTCACAGTGGGGGCTGTGGTCCTCAGAGGCTTCGTTCCTGGGGGCTGCATTCCTGGAGGGCTGTGCACAGGCACCCAGAGCGGCTTCTCTGCCCGGCCCATCCTGGGCGTTTCCACTTCTCCCTGAAATGTGTCCATGCGAGTCACACAGGCGGATTCGGTGCATGGTCCTGGTGGCGGGGAGCTAGGTGGCTGGGTGGCTTGCAGGGGGCAGGGAGTCTGTCCTAAGGGAAGACCACCCGCTGCCCACTCACCACTGACCACCTCCCCAATGCACTCTGGAAAAGCGTCCGGCCCTCCCACTGCCGGAGGCCCTTCCCGCTGCCATTACTGGAATCAATTGAGTTGGAAGAGGAGCCCAATCGTTCTTAATCATACAGCAGGGTTTGTAGGTCAGGCGGGTGCCCTGGGGCCTGGAAAGGGCTGTGGGCAGATGGCTGGGACGGGAGAGGAGGAAGAGCTTCCATTTGCTTTGTTTGTGGGAGCTGTGACCCTGCCACACCCAGACCCTGAGCCTGTGGCCAGAGATCATCCCTGGAGGACTCAGCTCAGAGAGCGCTGGCTGCCGGGCGCAGGGCCCTCGGCACAGATCTGCAGGAAGGACAAGTTAGAGGACAGCAGCCTCCGGAGGCCACCATCTGCCACGGCCAATCCGTGGCAACGCTGCCCTGGCTTCCAGGCACAGAAAACCCGTTTCCATGACCAGACTTCATCTTGGCCTCCTAGGAGCCTGACATGGGCTTGGCCCAGCCCGAGGCTTTGTTTGTTTGCTGGGGACCTGGCGTGACATGTCCTGGGCAGAGCGTGAGTATGCAGAGAAAGCAGAGGCCCTAGTGGCATGAGAACCATCTGGGGCTTCCTCACCCCTCTCCAGGGCACCCTGCAGTCCACACTATTCTCCCAGAAAGGCCAGGATGGGGTCTGATGGCGAAAAGCACTCCTGCCCAAAAGGGCTCTCCTGCAGCTGTCAAGGGTGGGGGCAAAGACGTCGCGGGTCAGGAGCCAGCCCCCAGGCCTCAGGACTGGTCCAGGCAGGGACACTGTGTCCAGGTGCCATAGCCACTCTCAGGCCCCTCCGGCTCTGACGCTCCAGTGCTGAGACCCAGGGATGCCCTCAGCCTCTTTGCTGGCCTGGGGGGACCCTTCCCTCCTCAACCCACACCAATTTCTCCATTGCTCCTGCTTCTTCCTTCCTGGGCCTGGGCTGGCATGCATGGGGCTGGCATAGGCCCCGCTGGGCCAGGCTGGGCCTTGGTGGAGCTCCCTGTCTGGGCAGGGGCAGGCCCTGGCCACTCCTGCCCACCAAGGCCCTGTAGAGGACTCACTTGTTGTAGAGGACTCACTTGTTGTAGAGGACGATGTCCGGCCGCCAGATGAGCTCGGAGGGGATGCGGATGGAGGTGACATTCTCATAGTCAGCTGGGTCCCAGCGCAGCTTGTAGTCGTGCCACTCCTGGATGAGGTGGGGCGGGGGGAGGCTGCAGGGTGAGGGGTGTGGGGGAGGGCAGGGGCGGGACAGGGCCAGGGTGGGGCAGGGGCAGGGCCAGGGCAGGGCAGCAGGGTGAGGGGTGTGAGGGAGGGCAGGGGCGGGACAGGGCCAGGGTGGGGCAGCAGGGTGAGGGGTGTGAGGGAGGGCAGGGGTGGGGCAGGGCCAGGGTGGGGCAGGGCCAGGACAGGGCAGCAGGGTGAGGGGTGTGGGGGAGGGCAGGGGTGGGGCAGGGCAGTGCCCTCCCACTCACCTGCTTCACCCATACGTTCGTGGTCATCATCTGGTTCTTCTCATCCTAGGGCACCGAGAGAGGAAGGGGGCCAGTGACCCCTTGGTGTCTTTCTCTGGCCCTAGGTTTCCTCATCTACAGCCACTGGCACAAGGACACGGCCAGGGCAAGATATGGTGGACGGGCGACCTGTGGAGGGGGTGAGTGCCCCGTCCCTGGAGGCAGCCGAGCCCAGGATGGGGACTCTGAGGGGACCTAGGGATGTGGGGACAAGGCCACAAACATCTCCAGCAGGAAACTGGAGAGGAGTCGGCGGCCTCACAGGCTTCCCCAGCTAAGGACAGGTGTGGCGGGCATGGGGAGCCTCCTTCTGCCCACCTGCCTTGCTCCCTCCCGGCCCTTGGGGGCAGCCCCTCTGCAGACAAGGCCCCCATGTGGGCACACACAGCCAGCAAAGCTGCCCCTGGCACATAAGTGGGTTCCACTGCTGGCCAGGGTGGCCCCTCCAGGACTGTGCCTCATGACCTGAGCAGGTGGGACCTGTCACTCAAGGTCACTGTGTGCAGCTGGGCCACTCACCCCAGCCCCTTCCGACCCACCCCACCCACCTCCTTCCACATCCCCACAGGACCACGTCCCCACCGACCACATCTCCATGGACCACATCCCCACAGAACCACGTCCCCACAGGACCACAACCCACAGGACCACATCTCCACGGACCACGTCCCCACAGAACCACATCCCCACAGGACCACATTCCCACAGGACCACGTCTCCACGGACCGTGTCCCCACAGGACCACGTCTCCACAGGACCACATTCCCACAGGACCACAACCCACAGGACCACATCTCCACTGACCATGTCCCCACAGGACCACGTCCCACAGACCACGTCCCCACAGACCATGTCTCCGTGCAGGGCCATATCTCCCCACAGGACCTCATCCCCTCAGGACCTCATCCCGTGTGTCTGAGGAAGCTCCAGGGTCCTCAGAACCAGCTTCACGTGGCCAGGCCTGGCCCTCCTGCCCAGTGTCGTGCCCTACCCCCTTGCAGCCGTCATTCTCAGTCGCCCTTGAAGCTGGAGGGCAGGTCAACACTGCACATTTCACCACCACTCAGCACTGGCCTGGGCTGGTTGGAAAAGCACTGGGTCTTCCAGACCCTCCTCTGCAGCCAGTCCTGGGGCCTGAGCTCACACGTGCAGCTCACAAGCCCTCCCCTCCAGGACAGACCCTGGTGATGGCACCTATAACAAGTATCCGAGCCCGCAAAGGGGGCACAGGTGAATCCCCAGCCCCTGGTGGGACGGGCAGAGTGGGCCAGACACAAGGCAGCCCCTTCCACATACACGTGGTCCTCAGCCTTAGGCCAGCACCCAGGAGCATCAGGCAGCCCCTTCCGTGCACACGTGGCCCTCGGCCTTGGGCACCCAGGAGCGTCAGCACCCACGTGTGCATGTTCGTGTAAGTCCTTAGTCGGCTGCAGGGTGGAGAGAGGGGTGGGCAGCTCTGGGAGTCTTGGTTCTGGGTGTGCTCCAGGCCTCAATGTCTCCTGGGCAAACTGGGGACTCTGTGGTGGCGTAGGGAGCCATGGATTGAGCCCTGAGAAGCTCAGGTAGGCAGCCAGGTGGGG
|
GTGGTCCTGGGGGGCTGTGGTCCTGGGGGGCTGTGGTCCTAGGGGGCTGTGACCCTCGGGGGGGCTGCGGTCCTGGGAGGTCTGTGGTCCTGGGGGGCTGTGGTCCTGGCGGGGGGGCTGCGGTCCTAGGGGTGTTGTAGTCCTAGGGGGCTGTGGTCAGGCAAGAACTGTGATCCTTGTGGGGGCTGCAGTTCTGCAGGAGGCACTGTAGCCCTAGGGTGGGATGAAGTCCTGGGAGGACTGTGGTCCTGGCAGGGAATGTGGTCCTGGGGGCCTGTGGTCCTGGGGGGCTGTGGTCCTGGGGGGGCTGTGGTCCTGGGGGGCTGTGGTCCTAGGGGGCTGTGGTCCTAAATGGGGCTGTGGTCCTGGGGGGCTGTAGTCCTGGGGGGCTGTGGTCCTAGGGGGCTGTGGTCCTGGGGGGGAGCTGCTGTCCTAGGGGTGTTGTAGTCCTAGGGGGCTGTGGTCAGGCAAGAACTGTGATCCTTGTGGGGGCTGCAGTTCTGCAGGAGGCACTGTAGCCCTAGGGTGGGATGAAGTCCTGGGAGGACTGTGGTCCTGGCAGGGAATGTGGTCCTGGGGGCCTGTGGTCCTAGGGGGCTGTGGTCCTAGAGGAACTGTGGTCCTGGGGGAGCTGTGAACCTGGTGGGGGCTGCAGTCTTTGGAGGGCCGTGGTCCTGGTGAGGCTGTGGAAGTGGGGGGGGCTGCAGTACTCGGGGGGCTGTGGTCCTGGGGGTTTGAGGTCACAGTGGGGGCTGTGGTCCTCAGAGGCTTCGTTCCTGGGGGCTGCATTCCTGGAGGGCTGTGCACAGGCACCCAGAGCGGCTTCTCTGCCCGGCCCATCCTGGGCGTTTCCACTTCTCCCTGAAATGTGTCCATGCGAGTCACACAGGCGGATTCGGTGCATGGTCCTGGTGGCGGGGAGCTAGGTGGCTGGGTGGCTTGCAGGGGGCAGGGAGTCTGTCCTAAGGGAAGACCACCCGCTGCCCACTCACCACTGACCACCTCCCCAATGCACTCTGGAAAAGCGTCCGGCCCTCCCACTGCCGGAGGCCCTTCCCGCTGCCATTACTGGAATCAATTGAGTTGGAAGAGGAGCCCAATCGTTCTTAATCATACAGCAGGGTTTGTAGGTCAGGCGGGTGCCCTGGGGCCTGGAAAGGGCTGTGGGCAGATGGCTGGGACGGGAGAGGAGGAAGAGCTTCCATTTGCTTTGTTTGTGGGAGCTGTGACCCTGCCACACCCAGACCCTGAGCCTGTGGCCAGAGATCATCCCTGGAGGACTCAGCTCAGAGAGCGCTGGCTGCCGGGCGCAGGGCCCTCGGCACAGATCTGCAGGAAGGACAAGTTAGAGGACAGCAGCCTCCGGAGGCCACCATCTGCCACGGCCAATCCGTGGCAACGCTGCCCTGGCTTCCAGGCACAGAAAACCCGTTTCCATGACCAGACTTCATCTTGGCCTCCTAGGAGCCTGACATGGGCTTGGCCCAGCCCGAGGCTTTGTTTGTTTGCTGGGGACCTGGCGTGACATGTCCTGGGCAGAGCGTGAGTATGCAGAGAAAGCAGAGGCCCTAGTGGCATGAGAACCATCTGGGGCTTCCTCACCCCTCTCCAGGGCACCCTGCAGTCCACACTATTCTCCCAGAAAGGCCAGGATGGGGTCTGATGGCGAAAAGCACTCCTGCCCAAAAGGGCTCTCCTGCAGCTGTCAAGGGTGGGGGCAAAGACGTCGCGGGTCAGGAGCCAGCCCCCAGGCCTCAGGACTGGTCCAGGCAGGGACACTGTGTCCAGGTGCCATAGCCACTCTCAGGCCCCTCCGGCTCTGACGCTCCAGTGCTGAGACCCAGGGATGCCCTCAGCCTCTTTGCTGGCCTGGGGGGACCCTTCCCTCCTCAACCCACACCAATTTCTCCATTGCTCCTGCTTCTTCCTTCCTGGGCCTGGGCTGGCATGCATGGGGCTGGCATAGGCCCCGCTGGGCCAGGCTGGGCCTTGGTGGAGCTCCCTGTCTGGGCAGGGGCAGGCCCTGGCCACTCCTGCCCACCAAGGCCCTGTAGAGGACTCACTTGTTGTAGAGGACGATGTCCGGCCGCCAGATGAGCTCGGAGGGGATGCGGATGGAGGTGACATTCTCATAGTCAGCTGGGTCCCAGCGCAGCTTGTAGTCGTGCCACTCCTGGATGAGGTGGGGCGGGGGGAGGCTGCAGGGTGAGGGGTGTGGGGGAGGGCAGGGGCGGGACAGGGCCAGGGTGGGGCAGGGGCAGGGCCAGGGCAGGGCAGCAGGGTGAGGGGTGTGAGGGAGGGCAGGGGCGGGACAGGGCCAGGGTGGGGCAGCAGGGTGAGGGGTGTGAGGGAGGGCAGGGGTGGGGCAGGGCCAGGGTGGGGCAGGGCCAGGACAGGGCAGCAGGGTGAGGGGTGTGGGGGAGGGCAGGGGTGGGGCAGGGCAGTGCCCTCCCACTCACCTGCTTCACCCATACGTTCGTGGTCATCATCTGGTTCTTCTCATCCTAGGGCACCGAGAGAGGAAGGGGGCCAGTGACCCCTTGGTGTCTTTCTCTGGCCCTAGGTTTCCTCATCTACAGCCACTGGCACAAGGACACGGCCAGGGCAAGATATGGTGGACGGGCGACCTGTGGAGGGGGTGAGTGCCCCGTCCCTGGAGGCAGCCGAGCCCAGGATGGGGACTCTGAGGGGACCTAGGGATGTGGGGACAAGGCCACAAACATCTCCAGCAGGAAACTGGAGAGGAGTCGGCGGCCTCACAGGCTTCCCCAGCTAAGGACAGGTGTGGCGGGCATGGGGAGCCTCCTTCTGCCCACCTGCCTTGCTCCCTCCCGGCCCTTGGGGGCAGCCCCTCTGCAGACAAGGCCCCCATGTGGGCACACACAGCCAGCAAAGCTGCCCCTGGCACATAAGTGGGTTCCACTGCTGGCCAGGGTGGCCCCTCCAGGACTGTGCCTCATGACCTGAGCAGGTGGGACCTGTCACTCAAGGTCACTGTGTGCAGCTGGGCCACTCACCCCAGCCCCTTCCGACCCACCCCACCCACCTCCTTCCACATCCCCACAGGACCACGTCCCCACCGACCACATCTCCATGGACCACATCCCCACAGAACCACGTCCCCACAGGACCACAACCCACAGGACCACATCTCCACGGACCACGTCCCCACAGAACCACATCCCCACAGGACCACATTCCCACAGGACCACGTCTCCACGGACCGTGTCCCCACAGGACCACGTCTCCACAGGACCACATTCCCACAGGACCACAACCCACAGGACCACATCTCCACTGACCATGTCCCCACAGGACCACGTCCCACAGACCACGTCCCCACAGACCATGTCTCCGTGCAGGGCCATATCTCCCCACAGGACCTCATCCCCTCAGGACCTCATCCCGTGTGTCTGAGGAAGCTCCAGGGTCCTCAGAACCAGCTTCACGTGGCCAGGCCTGGCCCTCCTGCCCAGTGTCGTGCCCTACCCCCTTGCAGCCGTCATTCTCAGTCGCCCTTGAAGCTGGAGGGCAGGTCAACACTGCACATTTCACCACCACTCAGCACTGGCCTGGGCTGGTTGGAAAAGCACTGGGTCTTCCAGACCCTCCTCTGCAGCCAGTCCTGGGGCCTGAGCTCACACGTGCAGCTCACAAGCCCTCCCCTCCAGGACAGACCCTGGTGATGGCACCTATAACAAGTATCCGAGCCCGCAAAGGGGGCACAGGTGAATCCCCAGCCCCTGGTGGGACGGGCAGAGTGGGCCAGACACAAGGCAGCCCCTTCCACATACACGTGGTCCTCAGCCTTAGGCCAGCACCCAGGAGCATCAGGCAGCCCCTTCCGTGCACACGTGGCCCTCGGCCTTGGGCACCCAGGAGCGTCAGCACCCACGTGTGCATGTTCGTGTAAGTCCTTAGTCGGCTGCAGGGTGGAGAGAGGGGTGGGCAGCTCTGGGAGTCTTGGTTCTGGGTGTGCTCCAGGCCTCAATGTCTCCTGGGCAAACTGGGGACTCTGTGGTGGCGTAGGGAGCCATGGATTGAGCCCTGAGAAGCTCAGGTAGGCAGCCAGGTGGGGNNNNNNNNNNNNNNNNNN
|
benign
| 315,997 |
Variant in gene CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit), located at chromosome 20 position 63359703: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
benign
|
CTGGTGGGACGGGCAGAGTGGGCCAGACACAAGGCAGCCCCTTCCACATACACGTGGTCCTCAGCCTTAGGCCAGCACCCAGGAGCATCAGGCAGCCCCTTCCGTGCACACGTGGCCCTCGGCCTTGGGCACCCAGGAGCGTCAGCACCCACGTGTGCATGTTCGTGTAAGTCCTTAGTCGGCTGCAGGGTGGAGAGAGGGGTGGGCAGCTCTGGGAGTCTTGGTTCTGGGTGTGCTCCAGGCCTCAATGTCTCCTGGGCAAACTGGGGACTCTGTGGTGGCGTAGGGAGCCATGGATTGAGCCCTGAGAAGCTCAGGTAGGCAGCCAGGTGGGGGGTGGCAGACCCAGAGCCTTGGGCAGCTGCCAGCGGCCGCCTCTGCCAGCTATCACTTTGCAGCCGTGTTTGCAAACCTCAGCAGGCTTGCCAAGCCTGTGCAACCCGCATTGTCTTCTGGCTGGGCCTCCGCCAGGGACACTCCACAGGAGCCACTCAAGGGCAGCTCCAGGACACTGAGGCTGGAGGTCTGGGTGGCCAACCCTGGACGGGGCTGGCTGACTGGAGTCTCCATGCGCTGCCCTGCATGGGCAACTGCCACCACTGAGCAGCCTGTCCGCGGGAATGTGGCTGCAGCTCCCCACACCTCCCAAAAGCCCCTGGGGTGTGGCCCACTCAGCCTGGGATAGTGAAGCAGCTCTCACCCCGTTTCACAGGCCCCAGGCCCAGGGTTACCCAACACGCACGGCACCAGCCTCCCAAAGAGAGGAAATTCTCCCGCAACCCGGTGGCTCCTCCCTCAGCGGCAGACCCAGGCTTGGCATCCTGGCAAGGTGTGGGCTGGGCCTCTACAGCATACAAATGCCTCCCCATGTGGGGGTGCCCTCCCTGGACCAGCGAGCTGGGATTTGGCAGCAGGGCTGGAGCTGGCGGACTTCAGTGTGGAAGACGAGCCCCTGCAGCTCAGCTGGCCATTGGCTGCCCACTCGCAAGTGGGCCAGCTCCCAGAGACCATGGCCTGCCCAACCTGCCCTCCTCCATGGTGGCAGCCCCCAGGCTATGCACCCCCACCCAGCCAGGTACCCTGAGGGATGGTCTCACCCCATTTGGAGTGGCTGAGCCTGGCTGGGAAACGTGGAAATGTCTCTGCTGCCCCTTACCCGGCCCCTCCAGGGCCGCCGAGACCCCCAGACAGTCTGGCTCAGGCCTGGGTAGGTAACCAAGCATCTCAACCGAGCACAAGGCCGAGCCTCCCGCAGCTCAGTTCTCTCAGCCTCGAAGCCTCCTGGTTCCTATCCTGCCTTGGGGCTCCATGTGCACTGGCCCACGCTGCAGGGGCCTGGCTGGACCAGTAGGCTTCCTCCCAGCAGCCTTCTTGGGCCCCCCACCAGAAAGAACATATCTTCAGACAAACAGACTTCGCCCAAGACTCCCCCAAACCCCACATTCCAGATCTGTGGGTGAGGGGCCTCTGGGGCCAGCTAAGGTTGGGGTGCTGCCGGGACACCACAGTGCCTGCTCCTGCCCCGGCCCCTGCCCCGGCCGGTTGTCCCTGTTGCTCCGAGGTCACAGCGTGCCCCGCCACCCCCAAGCAAGGCCTTTGCTGTTCTTTGCTTCCGAAGGTGCCTGGGCTCTGTACTGAGAACCTGGCCACTTGGAGTGTTCCCACGTCAAGGGGGAGGAAAGGGCAGGGCCTGGCTGGGACGCTCTGAATCAACCCTTGGCTGGGGCTCAGGCGGGGCAGAGCTGGTGGCTGTCGTTCTGACGTACCAGCCCGGGCCGGACACTCACAGCCACGGGGAGTGTTGATGGCTGTGTCCCCTCTGCCCACCCAGACCCCTGTGCTCCTTGCAGGGCGACCTCAGTCACAGTGCACGATGGCCACGCCCTCACCTACCACGTCAATGAGCTGAGCGATGGACAGGCCGAAGCGGACGAGGACCACGTCCGAGATGTTGGCCACGGGTCGGGACCACTTGTTGTAACCGGAGAAGAGTTTCTTCAGGAGCCGCTCCTCGGCGTGGGCCCGGGTCTCCACATGGCTGCTGGCTGCGGGGAGAGGCAGGCCAGTGGCTCAGGTGCAGGCGGGACAGGAGCCGGGAGCTGTCCAGGAGCTCTCCAGGCTGCCCCAGCCCCCTGCCCAGCACGTCCACTTCCTTTCAGCTCCTCACATGAGCCCTTCCCACCCCAGGACCTGTGTGTGTGCCGGGCGTGCGCTCTGTGTGTGTGTGTGTGCCGGGCGTGTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCCGGGCGTGGCGTGCGCTGACCTCTCTTGGCCTCCGGCTCTCTCCCACCCCTGGGTGTAATTGTGATTTCCTCGGGGAAGCTTCCCAGGCCCCTCAGCCCACGGAGGCCTTCCCAGCACCTTGACCGCACCACAAAACCAGGCGGCGGATGGGCCGAGGACTGCTTTGGGTCTCCTGTCACACTGACTTCCAGGGAAGGGCTGTGTCTCTAGCAGCTGGCGAGTCAGAGGACACTCGGGGGTAACAGCAGCAAAGGAGGGAGTACAGGGCAGCGGGGCCAGCCCAGGCAGGAAGAGGGAGGAAGGGGAAGGAGGATCGGGCCCCCACAAGCGCCCGCTTCCTACGGAACCTCCCCTGGTTCATCAATCCCCTGATGCCCGAGGAGTGTTTCAGATGCAGACCCCAACGAGGTGCCAGCCCCCTCCGCACCCCAGCCTGCCCGTGCTGTTGGGCAGACCCAGAACGCCCCTGATGAGTCGCTCTGGAGGAGCACAGCCCTAGGTCCATCTGTGCTCCAGGTCCGGGGCCCCAGGATCTGAGGCATTCCCCGCCTGTCCTGGGCGCTGCCATAAGGGGCGGGTCTGGGCGGAGGGGGAGACCTCCACCTCCCTGGTGGGTCCCGCTGGCCTGAGAGCGCAGACAGGACTCGGGGAGGGGGAGGGGTCAGTTCTACACCCCTGGGAGCCTTGACTCCCAGCCCAGAGTCCCCACCCGCGACCTTGTCCTTCCTGCAGAAAAGGTGGGTGGCGGCCGCCAAGGGCAGAGGCCACCCCTCTGATCCCCTAAACCGGAGGAAGCAGGCATGGGGGTCTTCAGGGAAATTTAGCTGGATGGATGGGGGAAGGGCGAAGGTGGCCCCACCTCTGCTCAAGTTCGAGCTTTTGGGGCCAGCCCTGAAATAGCAGCGGAACCCCCCACACCCCGCGGAAAGCCCCTTTCCCAGCCCTCCGCATTCGCCGGCGGTCAACTCCCTCCTCGCCTGGCTCAGCCCGGGTGCGAGCGCAGCCTGTGCGGCTGGGGATGGGGAGCCTCGCGGTCGCCCAGTCGCGCGCACCCGCGGCTTGGGACCGCAGTCAGGAGCCTGCCTCCCTCTGGCTCTGGGGGTCCCAGGCCATCCGAACGCGGGCGAAAGGGGGCCCATCCCGCGCCCCGTAACTTACCGCGCAGGAGGCCGGTCCCCAGAAGCAGCAGCAGCGGCGGCAGCAGCCGCGGCGCTCCGGGGCCCCCTAGCTCCATGGCGCACGCACCTCGCGGGCTCTAGATGCGGGCGGCTCCCGGCTCCCCGCCGCTTCGAGGCCCGTGCGCGCCCAACTTCATGCCTCCCGCGCCTCGCGGGCCGCTTCGGCCGCCGGGCCCGGTTCGTCTTCTCCTGTGGGGCGCGGTGCGGCGGCGGCGCGGCAGGGAGCGCCGGGCTGTGGGCTCCGTGGCGCGGCCCCGCCCGGCCCTGCCCGCCTCAGCCGGCTGGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGGAACGGAGAGTGAAAAGGGAGGAGGGAGCAAGGGCCAGGGAGAATGAGCAGGGATGGACCGCGCGCCCAGGGGGACGGGGAGGCTGCGCTGGGCCCCGGGCGGGGGTAAAGTTTCCTTGTTCTCCTGGGGTTCGAGACGTGCCTGAGCCGGGGACGGGGACCCCGGGGTCACTGAGTGCGACTGGGGGGTCCCGGAGTCAGTCTGACCTCCCTCCCCACATCTCCAGCCTGGGCGCCCGCTCCCTGCCTGCAGGGGTGGGGGGCACATCTAGGGGATCCGGCGCAAGGAGGGGCACCCCTAGCACATC
|
CTGGTGGGACGGGCAGAGTGGGCCAGACACAAGGCAGCCCCTTCCACATACACGTGGTCCTCAGCCTTAGGCCAGCACCCAGGAGCATCAGGCAGCCCCTTCCGTGCACACGTGGCCCTCGGCCTTGGGCACCCAGGAGCGTCAGCACCCACGTGTGCATGTTCGTGTAAGTCCTTAGTCGGCTGCAGGGTGGAGAGAGGGGTGGGCAGCTCTGGGAGTCTTGGTTCTGGGTGTGCTCCAGGCCTCAATGTCTCCTGGGCAAACTGGGGACTCTGTGGTGGCGTAGGGAGCCATGGATTGAGCCCTGAGAAGCTCAGGTAGGCAGCCAGGTGGGGGGTGGCAGACCCAGAGCCTTGGGCAGCTGCCAGCGGCCGCCTCTGCCAGCTATCACTTTGCAGCCGTGTTTGCAAACCTCAGCAGGCTTGCCAAGCCTGTGCAACCCGCATTGTCTTCTGGCTGGGCCTCCGCCAGGGACACTCCACAGGAGCCACTCAAGGGCAGCTCCAGGACACTGAGGCTGGAGGTCTGGGTGGCCAACCCTGGACGGGGCTGGCTGACTGGAGTCTCCATGCGCTGCCCTGCATGGGCAACTGCCACCACTGAGCAGCCTGTCCGCGGGAATGTGGCTGCAGCTCCCCACACCTCCCAAAAGCCCCTGGGGTGTGGCCCACTCAGCCTGGGATAGTGAAGCAGCTCTCACCCCGTTTCACAGGCCCCAGGCCCAGGGTTACCCAACACGCACGGCACCAGCCTCCCAAAGAGAGGAAATTCTCCCGCAACCCGGTGGCTCCTCCCTCAGCGGCAGACCCAGGCTTGGCATCCTGGCAAGGTGTGGGCTGGGCCTCTACAGCATACAAATGCCTCCCCATGTGGGGGTGCCCTCCCTGGACCAGCGAGCTGGGATTTGGCAGCAGGGCTGGAGCTGGCGGACTTCAGTGTGGAAGACGAGCCCCTGCAGCTCAGCTGGCCATTGGCTGCCCACTCGCAAGTGGGCCAGCTCCCAGAGACCATGGCCTGCCCAACCTGCCCTCCTCCATGGTGGCAGCCCCCAGGCTATGCACCCCCACCCAGCCAGGTACCCTGAGGGATGGTCTCACCCCATTTGGAGTGGCTGAGCCTGGCTGGGAAACGTGGAAATGTCTCTGCTGCCCCTTACCCGGCCCCTCCAGGGCCGCCGAGACCCCCAGACAGTCTGGCTCAGGCCTGGGTAGGTAACCAAGCATCTCAACCGAGCACAAGGCCGAGCCTCCCGCAGCTCAGTTCTCTCAGCCTCGAAGCCTCCTGGTTCCTATCCTGCCTTGGGGCTCCATGTGCACTGGCCCACGCTGCAGGGGCCTGGCTGGACCAGTAGGCTTCCTCCCAGCAGCCTTCTTGGGCCCCCCACCAGAAAGAACATATCTTCAGACAAACAGACTTCGCCCAAGACTCCCCCAAACCCCACATTCCAGATCTGTGGGTGAGGGGCCTCTGGGGCCAGCTAAGGTTGGGGTGCTGCCGGGACACCACAGTGCCTGCTCCTGCCCCGGCCCCTGCCCCGGCCGGTTGTCCCTGTTGCTCCGAGGTCACAGCGTGCCCCGCCACCCCCAAGCAAGGCCTTTGCTGTTCTTTGCTTCCGAAGGTGCCTGGGCTCTGTACTGAGAACCTGGCCACTTGGAGTGTTCCCACGTCAAGGGGGAGGAAAGGGCAGGGCCTGGCTGGGACGCTCTGAATCAACCCTTGGCTGGGGCTCAGGCGGGGCAGAGCTGGTGGCTGTCGTTCTGACGTACCAGCCCGGGCCGGACACTCACAGCCACGGGGAGTGTTGATGGCTGTGTCCCCTCTGCCCACCCAGACCCCTGTGCTCCTTGCAGGGCGACCTCAGTCACAGTGCACGATGGCCACGCCCTCACCTACCACGTCAATGAGCTGAGCGATGGACAGGCCGAAGCGGACGAGGACCACGTCCGAGATGTTGGCCACGGGTCGGGACCACTTGTTGTAACCGGAGAAGAGTTTCTTCAGGAGCCGCTCCTCGGCGTGGGCCCGGGTCTCCACATGGCTGCTGGCTGCGGGAGAGGCAGGCCAGTGGCTCAGGTGCAGGCGGGACAGGAGCCGGGAGCTGTCCAGGAGCTCTCCAGGCTGCCCCAGCCCCCTGCCCAGCACGTCCACTTCCTTTCAGCTCCTCACATGAGCCCTTCCCACCCCAGGACCTGTGTGTGTGCCGGGCGTGCGCTCTGTGTGTGTGTGTGTGCCGGGCGTGTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCCGGGCGTGGCGTGCGCTGACCTCTCTTGGCCTCCGGCTCTCTCCCACCCCTGGGTGTAATTGTGATTTCCTCGGGGAAGCTTCCCAGGCCCCTCAGCCCACGGAGGCCTTCCCAGCACCTTGACCGCACCACAAAACCAGGCGGCGGATGGGCCGAGGACTGCTTTGGGTCTCCTGTCACACTGACTTCCAGGGAAGGGCTGTGTCTCTAGCAGCTGGCGAGTCAGAGGACACTCGGGGGTAACAGCAGCAAAGGAGGGAGTACAGGGCAGCGGGGCCAGCCCAGGCAGGAAGAGGGAGGAAGGGGAAGGAGGATCGGGCCCCCACAAGCGCCCGCTTCCTACGGAACCTCCCCTGGTTCATCAATCCCCTGATGCCCGAGGAGTGTTTCAGATGCAGACCCCAACGAGGTGCCAGCCCCCTCCGCACCCCAGCCTGCCCGTGCTGTTGGGCAGACCCAGAACGCCCCTGATGAGTCGCTCTGGAGGAGCACAGCCCTAGGTCCATCTGTGCTCCAGGTCCGGGGCCCCAGGATCTGAGGCATTCCCCGCCTGTCCTGGGCGCTGCCATAAGGGGCGGGTCTGGGCGGAGGGGGAGACCTCCACCTCCCTGGTGGGTCCCGCTGGCCTGAGAGCGCAGACAGGACTCGGGGAGGGGGAGGGGTCAGTTCTACACCCCTGGGAGCCTTGACTCCCAGCCCAGAGTCCCCACCCGCGACCTTGTCCTTCCTGCAGAAAAGGTGGGTGGCGGCCGCCAAGGGCAGAGGCCACCCCTCTGATCCCCTAAACCGGAGGAAGCAGGCATGGGGGTCTTCAGGGAAATTTAGCTGGATGGATGGGGGAAGGGCGAAGGTGGCCCCACCTCTGCTCAAGTTCGAGCTTTTGGGGCCAGCCCTGAAATAGCAGCGGAACCCCCCACACCCCGCGGAAAGCCCCTTTCCCAGCCCTCCGCATTCGCCGGCGGTCAACTCCCTCCTCGCCTGGCTCAGCCCGGGTGCGAGCGCAGCCTGTGCGGCTGGGGATGGGGAGCCTCGCGGTCGCCCAGTCGCGCGCACCCGCGGCTTGGGACCGCAGTCAGGAGCCTGCCTCCCTCTGGCTCTGGGGGTCCCAGGCCATCCGAACGCGGGCGAAAGGGGGCCCATCCCGCGCCCCGTAACTTACCGCGCAGGAGGCCGGTCCCCAGAAGCAGCAGCAGCGGCGGCAGCAGCCGCGGCGCTCCGGGGCCCCCTAGCTCCATGGCGCACGCACCTCGCGGGCTCTAGATGCGGGCGGCTCCCGGCTCCCCGCCGCTTCGAGGCCCGTGCGCGCCCAACTTCATGCCTCCCGCGCCTCGCGGGCCGCTTCGGCCGCCGGGCCCGGTTCGTCTTCTCCTGTGGGGCGCGGTGCGGCGGCGGCGCGGCAGGGAGCGCCGGGCTGTGGGCTCCGTGGCGCGGCCCCGCCCGGCCCTGCCCGCCTCAGCCGGCTGGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGGAACGGAGAGTGAAAAGGGAGGAGGGAGCAAGGGCCAGGGAGAATGAGCAGGGATGGACCGCGCGCCCAGGGGGACGGGGAGGCTGCGCTGGGCCCCGGGCGGGGGTAAAGTTTCCTTGTTCTCCTGGGGTTCGAGACGTGCCTGAGCCGGGGACGGGGACCCCGGGGTCACTGAGTGCGACTGGGGGGTCCCGGAGTCAGTCTGACCTCCCTCCCCACATCTCCAGCCTGGGCGCCCGCTCCCTGCCTGCAGGGGTGGGGGGCACATCTAGGGGATCCGGCGCAAGGAGGGGCACCCCTAGCACATCN
|
benign
| 316,018 |
A genetic variant on chromosome 20, position 63406659, affects the gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Inborn_genetic_diseases', 'Seizures,_benign_familial_neonatal,_1']
|
GCTATGGATTCCCTGCCCCATGACGGGACGGCAAAGGGACATGGACCCCAGGCTCGAGCCAGCCCAAGGGAGACAGCAAGGGCACCGCCGTGAAACGCTGCCCCCAAAACACGTAGCGATGCCCACACCAGAAGGGATGCTTCATGCCACCGCAGGGCCCGAGGCCACACACGCTGCCTTTGGGAACAGAGCAGACAGGCAGTGGGAGCCTGGACAGTGGCTTCCGAGGCCTCCCAGTTGGCACCTTTTTGGGACAGGCTCCAGCACAGGGAGGGGTGAGGAGACAGCCCAGCGGAGGCACCTCAATGGCGACAGGGCCTGGGAGTGCCCTGGCCGGGCTGGGGGTAGGCAGAGAGGCCAGGGCAGCAGCTCCCCACAATGGACGCCAGACATGGCTCCCCGAACACCCTGAGCGCCAGGACCCCCACCAGCCAGGGGCGTACGACCCTCAAATGCTGCTTTCAAAGTCCTCTCCCTCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGACGGTGCACCCGAGGCCCGAGACCCCAAGAGGCCCCGCTAAGGAATCGGTCAGTGGAGAAGGGGCCATCAGCTCCAGGGGGCAGGAGAGCTAGGGAGGGCGCACAGCTGGGCTGAGGTGGGAGTGGTTTCCTCCGGAAAGGCGGGGAGGGCGGCCCTGTGCTGACGGTGGAGGCTATCCTGGCCCGCTGCATCATGGCCCAGCCCTGCCCCAGGTCTGTCGGGGCACTGGTGGGACACAGGCGAGGTGGGGCCCTGGCTAAGAACTGTGAGGCCTGCTCACCAGGTGGGTCTCGCAGTGCCGGCACCCGGCCAGGGCAGTCAGGAGAGAGGGGAGGACTTGGGGTCCTGCCCCCCCGGTCTCCAAGGCTGGGGTGCTGCTGGCTCTCACGCACCCACAGAAAGGCCAGGGCGAGGCAGCTGGAGCCCCCAAGGACCCCCTTTTTGAAGACCCTTTGGAGCCGGCTCCCTGGCCCCACCGTGAGCCAGGCCCTCCCTCTGGAGGCCAAGACCAGAGGGCTGGACGTCCACTCTGGCTCCAGTTTGGTTCCCAGGCCCCACCCGCTCCTCGGCTGCAGGCGAAGGTCTCCACCTCGGGGCTGGCTTCCATGGAAAGAGCCCTCAGATCCCAGAAGGTACAGGGAGAAGACGCCAACCAATAGCTCTGTATTTGGGCGCCCCTGAGGTGGGGAACAGGAAAGCCCGCCGGGCAGGTCAGGTGTGAAGGCAGAGGCCACGCACAGCGGCCGGCCACACCCGCCTGTAGCTGCCCGGAAACCCCACCGGGACCCAAGGCCGCAGGTCCTCACCAAACAGGCCCGCCCTTTGCGCAGGTCCTCAGGGAACAGGCCTGCCCTTTGTGCCTCCCCTGGGCTCGGCTGAGACAACCCCCCGCCTGTTGCCACGCTGGCAACACCCCGTCATCACTCCCGCCCCTCCTCACACCGGGCTGATGTCGGCCGCGGCCCTGAGCAGAGTGGACAGGGCAGCCTTGCTCCTGCACGCTGCTCCTGGAGCCACAGGGCCCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTGACTCTCCCTCCGCAATGTAGGGCCTGACTTTGGCACAAGGCGCCACGGCCGCGTAGCAGCTGTTGAGAGCATCCAGGTTCTCCTTGGACTGGGAGATGCTGAAGCCGCTGAAGGAACGCTCCAGCTCCTCGTGGTCCACGGACGGGATGGAGATGGACGTGTCGCTGTCCCGCAGGTTCCCCTCGGGGGGCCTGCAGCCCGGGGTGTCCTCCTGCCGCAGGAACTCCATGCTGGCGCGGTTGCCCCCGCCGTAGGCGGACAGCGACCGCTCGTGGGCAGGCGGCGGCGGGATGCGCACCAGGGAGCCGTGGTCCCCCACGGGGGAGGTGCCGTGGCCCTGGCGCGGGTGGCTCTGTGGCTGCCAGGAGGTGGAGGGCGGACACTGGACAGGGGGCGCGGCCGGGGGCGCCGAGAAGTTCTTCTGGCCCGTGGAGCTGCTGGAGCGCACGATCTTGACAATGCAGCCGTGCCTGTCGACATGCTCCCGGCTGTCTTCCGGGCTGTGGTACGGCGGCGCCGGCTCCGGCTCTTTGGCCCCAAAGTAGGCCTCGGTCTCTGTCGGGGGGATGCCCATCCGCTGCATGTAGATATTCACCAGGAAGTCCAGCTTCTTCTCCATGGACAAGACCTGCAAAAGGGGCTGCTGGGCTGGGGTGCGAGGGCCCGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAATGGGGGACCCAGGCTAGTCCCAGGAAATGGGGGGGACCCAGGCTGGTCCTAGGAGATGGGGGGACCTGGACCACTCCCAGGAAGTCGGTCGACTTGGGCTGGTCCCAGGAGGTGGGGGGACCTGGGTTGCTCCCTGGAGAGGTACAGGGAGGGGGGATCCCTGCTCCCTGGAAGCTGGAGGAGCGGGAAGAGGAGGCCCAGGAGCAGCTCTTCCTCCTTCCCAGACCCCTAGGGGCAAAGCCTCCAGCTCCACGGTTGGGGCGTGTGTTCAGAGCCAGGCCCTCCTGCTGCCCACCGTGGAACCCCCTTCAGGAAAGCCCCACAGGGCAGGACCTGGCAGTTCCTTACTCACTGCTCAGGCCCGGCTCTCAGAAGCAGGCCCCAAAACAAGGGTCCTCTGCGGTGGTTCCTGAGAATGCACCCCCAGAAGACAGCGGCCAGGGTGTCGGGCAAGGAGGACAGAGAGGAGGAAGGCCAGGCAGGTACAACTTCCGGCACGTTCCACAAGGAACCCCTGAGGGATCCACCTCTCAGCAGCCCCCACCCAGGACTCCTGGGGACTTTGGCCCTTGGGTACTGTCAGGAGGGAAGGCACCCAGGCCGGGGGTGGGAGGCTCACGGTGGGGTGTGAGGGGTCTGCACAGAGCAGCTGTCAGTGGTGACAGGGCCATGTAAACCCTAGACTTGAGGAGCCCTCCGTGGCACCCAGCCCCTGAAGCCCACACTGCCACAGGTTGACGGCAGGCACCACAGCCCTCCAGCCCCGCACCCCTCCCGCCCAGCCTCTCGCACCTGCTTCTCCACCTTCCCGAGCCGTCCCATCATGCTGGGGTCCTCGGGCAGCTCCGCCTCGGCCGGGCCCTTGGTGCGGTCCTTGTCCGTGATCGCTGGGCCCCGCCCCACGATCTGGTCCACTCTACCGGGAACAGAGACCCCAAAGCATGAGTTCGGGTGGGTGCAGCAGGGCCCCTGCCCTCTCCTCCTGGACCAGGCCACAGTGCCCCTGGGTCTAGGCTGCAGGCTCAGCCCAGAGCCGACCAGGGGGCAGTGGGTGCCAGGACAGATGGACGGGGTGCGCCCCGTTCT
|
GCTATGGATTCCCTGCCCCATGACGGGACGGCAAAGGGACATGGACCCCAGGCTCGAGCCAGCCCAAGGGAGACAGCAAGGGCACCGCCGTGAAACGCTGCCCCCAAAACACGTAGCGATGCCCACACCAGAAGGGATGCTTCATGCCACCGCAGGGCCCGAGGCCACACACGCTGCCTTTGGGAACAGAGCAGACAGGCAGTGGGAGCCTGGACAGTGGCTTCCGAGGCCTCCCAGTTGGCACCTTTTTGGGACAGGCTCCAGCACAGGGAGGGGTGAGGAGACAGCCCAGCGGAGGCACCTCAATGGCGACAGGGCCTGGGAGTGCCCTGGCCGGGCTGGGGGTAGGCAGAGAGGCCAGGGCAGCAGCTCCCCACAATGGACGCCAGACATGGCTCCCCGAACACCCTGAGCGCCAGGACCCCCACCAGCCAGGGGCGTACGACCCTCAAATGCTGCTTTCAAAGTCCTCTCCCTCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGACGGTGCACCCGAGGCCCGAGACCCCAAGAGGCCCCGCTAAGGAATCGGTCAGTGGAGAAGGGGCCATCAGCTCCAGGGGGCAGGAGAGCTAGGGAGGGCGCACAGCTGGGCTGAGGTGGGAGTGGTTTCCTCCGGAAAGGCGGGGAGGGCGGCCCTGTGCTGACGGTGGAGGCTATCCTGGCCCGCTGCATCATGGCCCAGCCCTGCCCCAGGTCTGTCGGGGCACTGGTGGGACACAGGCGAGGTGGGGCCCTGGCTAAGAACTGTGAGGCCTGCTCACCAGGTGGGTCTCGCAGTGCCGGCACCCGGCCAGGGCAGTCAGGAGAGAGGGGAGGACTTGGGGTCCTGCCCCCCCGGTCTCCAAGGCTGGGGTGCTGCTGGCTCTCACGCACCCACAGAAAGGCCAGGGCGAGGCAGCTGGAGCCCCCAAGGACCCCCTTTTTGAAGACCCTTTGGAGCCGGCTCCCTGGCCCCACCGTGAGCCAGGCCCTCCCTCTGGAGGCCAAGACCAGAGGGCTGGACGTCCACTCTGGCTCCAGTTTGGTTCCCAGGCCCCACCCGCTCCTCGGCTGCAGGCGAAGGTCTCCACCTCGGGGCTGGCTTCCATGGAAAGAGCCCTCAGATCCCAGAAGGTACAGGGAGAAGACGCCAACCAATAGCTCTGTATTTGGGCGCCCCTGAGGTGGGGAACAGGAAAGCCCGCCGGGCAGGTCAGGTGTGAAGGCAGAGGCCACGCACAGCGGCCGGCCACACCCGCCTGTAGCTGCCCGGAAACCCCACCGGGACCCAAGGCCGCAGGTCCTCACCAAACAGGCCCGCCCTTTGCGCAGGTCCTCAGGGAACAGGCCTGCCCTTTGTGCCTCCCCTGGGCTCGGCTGAGACAACCCCCCGCCTGTTGCCACGCTGGCAACACCCCGTCATCACTCCCGCCCCTCCTCACACCGGGCTGATGTCGGCCGCGGCCCTGAGCAGAGTGGACAGGGCAGCCTTGCTCCTGCACGCTGCTCCTGGAGCCACAGGGCCCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTGACTCTCCCTCCGCAATGTAGGGCCTGACTTTGGCACAAGGCGCCACGGCCGCGTAGCAGCTGTTGAGAGCATCCAGGTTCTCCTTGGACTGGGAGATGCTGAAGCCGCTGAAGGAACGCTCCAGCTCCTCGTGGTCCACGGACGGGATGGAGATGGACGTGTCGCTGTCCCGCAGGTTCCCCTCGGGGGGCCTGCAGCCCGGGGTGTCCTCCTGCCGCAGGAACTCCATGCTGGCGCGGTTGCCCCCGCCGTAGGCGGACAGCGACCGCTCGTGGGCAGGCGGCGGCGGGATGCGCACCAGGGAGCCGTGGTCCCCCACGGGGGAGGTGCCGTGGCCCTGGCGCGGGTGGCTCTGTGGCTGCCAGGAGGTGGAGGGCGGACACTGGACAGGGGGCGCGGCCGGGGGCGCCGAGAAGTTCTTCTGGCCCGTGGAGCTGCTGGAGCGCACGATCTTGACAATGCAGCCGTGCCTGTCGACATGCTCCCGGCTGTCTTCCGGGCTGTGGTACGGCGGCGCCGGCTCCGGCTCTTTGGCCCCAAAGTAGGCCTCGGTCTCTGTCGGGGGGATGCCCATCCGCTGCATGTAGATATTCACCAGGAAGTCCAGCTTCTTCTCCATGGACAAGACCTGCAAAAGGGGCTGCTGGGCTGGGGTGCGAGGGCCCGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAATGGGGGACCCAGGCTAGTCCCAGGAAATGGGGGGGACCCAGGCTGGTCCTAGGAGATGGGGGGACCTGGACCACTCCCAGGAAGTCGGTCGACTTGGGCTGGTCCCAGGAGGTGGGGGGACCTGGGTTGCTCCCTGGAGAGGTACAGGGAGGGGGGATCCCTGCTCCCTGGAAGCTGGAGGAGCGGGAAGAGGAGGCCCAGGAGCAGCTCTTCCTCCTTCCCAGACCCCTAGGGGCAAAGCCTCCAGCTCCACGGTTGGGGCGTGTGTTCAGAGCCAGGCCCTCCTGCTGCCCACCGTGGAACCCCCTTCAGGAAAGCCCCACAGGGCAGGACCTGGCAGTTCCTTACTCACTGCTCAGGCCCGGCTCTCAGAAGCAGGCCCCAAAACAAGGGTCCTCTGCGGTGGTTCCTGAGAATGCACCCCCAGAAGACAGCGGCCAGGGTGTCGGGCAAGGAGGACAGAGAGGAGGAAGGCCAGGCAGGTACAACTTCCGGCACGTTCCACAAGGAACCCCTGAGGGATCCACCTCTCAGCAGCCCCCACCCAGGACTCCTGGGGACTTTGGCCCTTGGGTACTGTCAGGAGGGAAGGCACCCAGGCCGGGGGTGGGAGGCTCACGGTGGGGTGTGAGGGGTCTGCACAGAGCAGCTGTCAGTGGTGACAGGGCCATGTAAACCCTAGACTTGAGGAGCCCTCCGTGGCACCCAGCCCCTGAAGCCCACACTGCCACAGGTTGACGGCAGGCACCACAGCCCTCCAGCCCCGCACCCCTCCCGCCCAGCCTCTCGCACCTGCTTCTCCACCTTCCCGAGCCGTCCCATCATGCTGGGGTCCTCGGGCAGCTCCGCCTCGGCCGGGCCCTTGGTGCGGTCCTTGTCCGTGATCGCTGGGCCCCGCCCCACGATCTGGTCCACTCTACCGGGAACAGAGACCCCAAAGCATGAGTTCGGGTGGGTGCAGCAGGGCCCCTGCCCTCTCCTCCTGGACCAGGCCACAGTGCCCCTGGGTCTAGGCTGCAGGCTCAGCCCAGAGCCGACCAGGGGGCAGTGGGTGCCAGGACAGATGGACGGGGTGCGCCCC
|
pathogenic
| 316,046 |
Does the variant impacting KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on chromosome 20, position 63406665, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_7', 'Seizures,_benign_familial_neonatal,_1']
|
GATTCCCTGCCCCATGACGGGACGGCAAAGGGACATGGACCCCAGGCTCGAGCCAGCCCAAGGGAGACAGCAAGGGCACCGCCGTGAAACGCTGCCCCCAAAACACGTAGCGATGCCCACACCAGAAGGGATGCTTCATGCCACCGCAGGGCCCGAGGCCACACACGCTGCCTTTGGGAACAGAGCAGACAGGCAGTGGGAGCCTGGACAGTGGCTTCCGAGGCCTCCCAGTTGGCACCTTTTTGGGACAGGCTCCAGCACAGGGAGGGGTGAGGAGACAGCCCAGCGGAGGCACCTCAATGGCGACAGGGCCTGGGAGTGCCCTGGCCGGGCTGGGGGTAGGCAGAGAGGCCAGGGCAGCAGCTCCCCACAATGGACGCCAGACATGGCTCCCCGAACACCCTGAGCGCCAGGACCCCCACCAGCCAGGGGCGTACGACCCTCAAATGCTGCTTTCAAAGTCCTCTCCCTCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGACGGTGCACCCGAGGCCCGAGACCCCAAGAGGCCCCGCTAAGGAATCGGTCAGTGGAGAAGGGGCCATCAGCTCCAGGGGGCAGGAGAGCTAGGGAGGGCGCACAGCTGGGCTGAGGTGGGAGTGGTTTCCTCCGGAAAGGCGGGGAGGGCGGCCCTGTGCTGACGGTGGAGGCTATCCTGGCCCGCTGCATCATGGCCCAGCCCTGCCCCAGGTCTGTCGGGGCACTGGTGGGACACAGGCGAGGTGGGGCCCTGGCTAAGAACTGTGAGGCCTGCTCACCAGGTGGGTCTCGCAGTGCCGGCACCCGGCCAGGGCAGTCAGGAGAGAGGGGAGGACTTGGGGTCCTGCCCCCCCGGTCTCCAAGGCTGGGGTGCTGCTGGCTCTCACGCACCCACAGAAAGGCCAGGGCGAGGCAGCTGGAGCCCCCAAGGACCCCCTTTTTGAAGACCCTTTGGAGCCGGCTCCCTGGCCCCACCGTGAGCCAGGCCCTCCCTCTGGAGGCCAAGACCAGAGGGCTGGACGTCCACTCTGGCTCCAGTTTGGTTCCCAGGCCCCACCCGCTCCTCGGCTGCAGGCGAAGGTCTCCACCTCGGGGCTGGCTTCCATGGAAAGAGCCCTCAGATCCCAGAAGGTACAGGGAGAAGACGCCAACCAATAGCTCTGTATTTGGGCGCCCCTGAGGTGGGGAACAGGAAAGCCCGCCGGGCAGGTCAGGTGTGAAGGCAGAGGCCACGCACAGCGGCCGGCCACACCCGCCTGTAGCTGCCCGGAAACCCCACCGGGACCCAAGGCCGCAGGTCCTCACCAAACAGGCCCGCCCTTTGCGCAGGTCCTCAGGGAACAGGCCTGCCCTTTGTGCCTCCCCTGGGCTCGGCTGAGACAACCCCCCGCCTGTTGCCACGCTGGCAACACCCCGTCATCACTCCCGCCCCTCCTCACACCGGGCTGATGTCGGCCGCGGCCCTGAGCAGAGTGGACAGGGCAGCCTTGCTCCTGCACGCTGCTCCTGGAGCCACAGGGCCCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTGACTCTCCCTCCGCAATGTAGGGCCTGACTTTGGCACAAGGCGCCACGGCCGCGTAGCAGCTGTTGAGAGCATCCAGGTTCTCCTTGGACTGGGAGATGCTGAAGCCGCTGAAGGAACGCTCCAGCTCCTCGTGGTCCACGGACGGGATGGAGATGGACGTGTCGCTGTCCCGCAGGTTCCCCTCGGGGGGCCTGCAGCCCGGGGTGTCCTCCTGCCGCAGGAACTCCATGCTGGCGCGGTTGCCCCCGCCGTAGGCGGACAGCGACCGCTCGTGGGCAGGCGGCGGCGGGATGCGCACCAGGGAGCCGTGGTCCCCCACGGGGGAGGTGCCGTGGCCCTGGCGCGGGTGGCTCTGTGGCTGCCAGGAGGTGGAGGGCGGACACTGGACAGGGGGCGCGGCCGGGGGCGCCGAGAAGTTCTTCTGGCCCGTGGAGCTGCTGGAGCGCACGATCTTGACAATGCAGCCGTGCCTGTCGACATGCTCCCGGCTGTCTTCCGGGCTGTGGTACGGCGGCGCCGGCTCCGGCTCTTTGGCCCCAAAGTAGGCCTCGGTCTCTGTCGGGGGGATGCCCATCCGCTGCATGTAGATATTCACCAGGAAGTCCAGCTTCTTCTCCATGGACAAGACCTGCAAAAGGGGCTGCTGGGCTGGGGTGCGAGGGCCCGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAATGGGGGACCCAGGCTAGTCCCAGGAAATGGGGGGGACCCAGGCTGGTCCTAGGAGATGGGGGGACCTGGACCACTCCCAGGAAGTCGGTCGACTTGGGCTGGTCCCAGGAGGTGGGGGGACCTGGGTTGCTCCCTGGAGAGGTACAGGGAGGGGGGATCCCTGCTCCCTGGAAGCTGGAGGAGCGGGAAGAGGAGGCCCAGGAGCAGCTCTTCCTCCTTCCCAGACCCCTAGGGGCAAAGCCTCCAGCTCCACGGTTGGGGCGTGTGTTCAGAGCCAGGCCCTCCTGCTGCCCACCGTGGAACCCCCTTCAGGAAAGCCCCACAGGGCAGGACCTGGCAGTTCCTTACTCACTGCTCAGGCCCGGCTCTCAGAAGCAGGCCCCAAAACAAGGGTCCTCTGCGGTGGTTCCTGAGAATGCACCCCCAGAAGACAGCGGCCAGGGTGTCGGGCAAGGAGGACAGAGAGGAGGAAGGCCAGGCAGGTACAACTTCCGGCACGTTCCACAAGGAACCCCTGAGGGATCCACCTCTCAGCAGCCCCCACCCAGGACTCCTGGGGACTTTGGCCCTTGGGTACTGTCAGGAGGGAAGGCACCCAGGCCGGGGGTGGGAGGCTCACGGTGGGGTGTGAGGGGTCTGCACAGAGCAGCTGTCAGTGGTGACAGGGCCATGTAAACCCTAGACTTGAGGAGCCCTCCGTGGCACCCAGCCCCTGAAGCCCACACTGCCACAGGTTGACGGCAGGCACCACAGCCCTCCAGCCCCGCACCCCTCCCGCCCAGCCTCTCGCACCTGCTTCTCCACCTTCCCGAGCCGTCCCATCATGCTGGGGTCCTCGGGCAGCTCCGCCTCGGCCGGGCCCTTGGTGCGGTCCTTGTCCGTGATCGCTGGGCCCCGCCCCACGATCTGGTCCACTCTACCGGGAACAGAGACCCCAAAGCATGAGTTCGGGTGGGTGCAGCAGGGCCCCTGCCCTCTCCTCCTGGACCAGGCCACAGTGCCCCTGGGTCTAGGCTGCAGGCTCAGCCCAGAGCCGACCAGGGGGCAGTGGGTGCCAGGACAGATGGACGGGGTGCGCCCCGTTCTCAGCCC
|
GATTCCCTGCCCCATGACGGGACGGCAAAGGGACATGGACCCCAGGCTCGAGCCAGCCCAAGGGAGACAGCAAGGGCACCGCCGTGAAACGCTGCCCCCAAAACACGTAGCGATGCCCACACCAGAAGGGATGCTTCATGCCACCGCAGGGCCCGAGGCCACACACGCTGCCTTTGGGAACAGAGCAGACAGGCAGTGGGAGCCTGGACAGTGGCTTCCGAGGCCTCCCAGTTGGCACCTTTTTGGGACAGGCTCCAGCACAGGGAGGGGTGAGGAGACAGCCCAGCGGAGGCACCTCAATGGCGACAGGGCCTGGGAGTGCCCTGGCCGGGCTGGGGGTAGGCAGAGAGGCCAGGGCAGCAGCTCCCCACAATGGACGCCAGACATGGCTCCCCGAACACCCTGAGCGCCAGGACCCCCACCAGCCAGGGGCGTACGACCCTCAAATGCTGCTTTCAAAGTCCTCTCCCTCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGACGGTGCACCCGAGGCCCGAGACCCCAAGAGGCCCCGCTAAGGAATCGGTCAGTGGAGAAGGGGCCATCAGCTCCAGGGGGCAGGAGAGCTAGGGAGGGCGCACAGCTGGGCTGAGGTGGGAGTGGTTTCCTCCGGAAAGGCGGGGAGGGCGGCCCTGTGCTGACGGTGGAGGCTATCCTGGCCCGCTGCATCATGGCCCAGCCCTGCCCCAGGTCTGTCGGGGCACTGGTGGGACACAGGCGAGGTGGGGCCCTGGCTAAGAACTGTGAGGCCTGCTCACCAGGTGGGTCTCGCAGTGCCGGCACCCGGCCAGGGCAGTCAGGAGAGAGGGGAGGACTTGGGGTCCTGCCCCCCCGGTCTCCAAGGCTGGGGTGCTGCTGGCTCTCACGCACCCACAGAAAGGCCAGGGCGAGGCAGCTGGAGCCCCCAAGGACCCCCTTTTTGAAGACCCTTTGGAGCCGGCTCCCTGGCCCCACCGTGAGCCAGGCCCTCCCTCTGGAGGCCAAGACCAGAGGGCTGGACGTCCACTCTGGCTCCAGTTTGGTTCCCAGGCCCCACCCGCTCCTCGGCTGCAGGCGAAGGTCTCCACCTCGGGGCTGGCTTCCATGGAAAGAGCCCTCAGATCCCAGAAGGTACAGGGAGAAGACGCCAACCAATAGCTCTGTATTTGGGCGCCCCTGAGGTGGGGAACAGGAAAGCCCGCCGGGCAGGTCAGGTGTGAAGGCAGAGGCCACGCACAGCGGCCGGCCACACCCGCCTGTAGCTGCCCGGAAACCCCACCGGGACCCAAGGCCGCAGGTCCTCACCAAACAGGCCCGCCCTTTGCGCAGGTCCTCAGGGAACAGGCCTGCCCTTTGTGCCTCCCCTGGGCTCGGCTGAGACAACCCCCCGCCTGTTGCCACGCTGGCAACACCCCGTCATCACTCCCGCCCCTCCTCACACCGGGCTGATGTCGGCCGCGGCCCTGAGCAGAGTGGACAGGGCAGCCTTGCTCCTGCACGCTGCTCCTGGAGCCACAGGGCCCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTGACTCTCCCTCCGCAATGTAGGGCCTGACTTTGGCACAAGGCGCCACGGCCGCGTAGCAGCTGTTGAGAGCATCCAGGTTCTCCTTGGACTGGGAGATGCTGAAGCCGCTGAAGGAACGCTCCAGCTCCTCGTGGTCCACGGACGGGATGGAGATGGACGTGTCGCTGTCCCGCAGGTTCCCCTCGGGGGGCCTGCAGCCCGGGGTGTCCTCCTGCCGCAGGAACTCCATGCTGGCGCGGTTGCCCCCGCCGTAGGCGGACAGCGACCGCTCGTGGGCAGGCGGCGGCGGGATGCGCACCAGGGAGCCGTGGTCCCCCACGGGGGAGGTGCCGTGGCCCTGGCGCGGGTGGCTCTGTGGCTGCCAGGAGGTGGAGGGCGGACACTGGACAGGGGGCGCGGCCGGGGGCGCCGAGAAGTTCTTCTGGCCCGTGGAGCTGCTGGAGCGCACGATCTTGACAATGCAGCCGTGCCTGTCGACATGCTCCCGGCTGTCTTCCGGGCTGTGGTACGGCGGCGCCGGCTCCGGCTCTTTGGCCCCAAAGTAGGCCTCGGTCTCTGTCGGGGGGATGCCCATCCGCTGCATGTAGATATTCACCAGGAAGTCCAGCTTCTTCTCCATGGACAAGACCTGCAAAAGGGGCTGCTGGGCTGGGGTGCGAGGGCCCGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAATGGGGGACCCAGGCTAGTCCCAGGAAATGGGGGGGACCCAGGCTGGTCCTAGGAGATGGGGGGACCTGGACCACTCCCAGGAAGTCGGTCGACTTGGGCTGGTCCCAGGAGGTGGGGGGACCTGGGTTGCTCCCTGGAGAGGTACAGGGAGGGGGGATCCCTGCTCCCTGGAAGCTGGAGGAGCGGGAAGAGGAGGCCCAGGAGCAGCTCTTCCTCCTTCCCAGACCCCTAGGGGCAAAGCCTCCAGCTCCACGGTTGGGGCGTGTGTTCAGAGCCAGGCCCTCCTGCTGCCCACCGTGGAACCCCCTTCAGGAAAGCCCCACAGGGCAGGACCTGGCAGTTCCTTACTCACTGCTCAGGCCCGGCTCTCAGAAGCAGGCCCCAAAACAAGGGTCCTCTGCGGTGGTTCCTGAGAATGCACCCCCAGAAGACAGCGGCCAGGGTGTCGGGCAAGGAGGACAGAGAGGAGGAAGGCCAGGCAGGTACAACTTCCGGCACGTTCCACAAGGAACCCCTGAGGGATCCACCTCTCAGCAGCCCCCACCCAGGACTCCTGGGGACTTTGGCCCTTGGGTACTGTCAGGAGGGAAGGCACCCAGGCCGGGGGTGGGAGGCTCACGGTGGGGTGTGAGGGGTCTGCACAGAGCAGCTGTCAGTGGTGACAGGGCCATGTAAACCCTAGACTTGAGGAGCCCTCCGTGGCACCCAGCCCCTGAAGCCCACACTGCCACAGGTTGACGGCAGGCACCACAGCCCTCCAGCCCCGCACCCCTCCCGCCCAGCCTCTCGCACCTGCTTCTCCACCTTCCCGAGCCGTCCCATCATGCTGGGGTCCTCGGGCAGCTCCGCCTCGGCCGGGCCCTTGGTGCGGTCCTTGTCCGTGATCGCTGGGCCCCGCCCCACGATCTGGTCCACTCTACCGGGAACAGAGACCCCAAAGCATGAGTTCGGGTGGGTGCAGCAGGGCCCCTGCCCTCTCCTCCTGGACCAGGCCACAGTGCCCCTGGGTCTAGGCTGCAGGCTCAGCCCAGAGCCGACCAGGGGGCAGTGGGTGCCAGGACAGATGGACGGGGTGCGCCCCGTTCTCAGCCCN
|
pathogenic
| 316,047 |
Gene mutation in KCNQ2 (potassium voltage-gated channel subfamily Q member 2) at chromosome 20, position 63406947—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Seizures,_benign_familial_neonatal,_1']
|
CCAGCGGAGGCACCTCAATGGCGACAGGGCCTGGGAGTGCCCTGGCCGGGCTGGGGGTAGGCAGAGAGGCCAGGGCAGCAGCTCCCCACAATGGACGCCAGACATGGCTCCCCGAACACCCTGAGCGCCAGGACCCCCACCAGCCAGGGGCGTACGACCCTCAAATGCTGCTTTCAAAGTCCTCTCCCTCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGACGGTGCACCCGAGGCCCGAGACCCCAAGAGGCCCCGCTAAGGAATCGGTCAGTGGAGAAGGGGCCATCAGCTCCAGGGGGCAGGAGAGCTAGGGAGGGCGCACAGCTGGGCTGAGGTGGGAGTGGTTTCCTCCGGAAAGGCGGGGAGGGCGGCCCTGTGCTGACGGTGGAGGCTATCCTGGCCCGCTGCATCATGGCCCAGCCCTGCCCCAGGTCTGTCGGGGCACTGGTGGGACACAGGCGAGGTGGGGCCCTGGCTAAGAACTGTGAGGCCTGCTCACCAGGTGGGTCTCGCAGTGCCGGCACCCGGCCAGGGCAGTCAGGAGAGAGGGGAGGACTTGGGGTCCTGCCCCCCCGGTCTCCAAGGCTGGGGTGCTGCTGGCTCTCACGCACCCACAGAAAGGCCAGGGCGAGGCAGCTGGAGCCCCCAAGGACCCCCTTTTTGAAGACCCTTTGGAGCCGGCTCCCTGGCCCCACCGTGAGCCAGGCCCTCCCTCTGGAGGCCAAGACCAGAGGGCTGGACGTCCACTCTGGCTCCAGTTTGGTTCCCAGGCCCCACCCGCTCCTCGGCTGCAGGCGAAGGTCTCCACCTCGGGGCTGGCTTCCATGGAAAGAGCCCTCAGATCCCAGAAGGTACAGGGAGAAGACGCCAACCAATAGCTCTGTATTTGGGCGCCCCTGAGGTGGGGAACAGGAAAGCCCGCCGGGCAGGTCAGGTGTGAAGGCAGAGGCCACGCACAGCGGCCGGCCACACCCGCCTGTAGCTGCCCGGAAACCCCACCGGGACCCAAGGCCGCAGGTCCTCACCAAACAGGCCCGCCCTTTGCGCAGGTCCTCAGGGAACAGGCCTGCCCTTTGTGCCTCCCCTGGGCTCGGCTGAGACAACCCCCCGCCTGTTGCCACGCTGGCAACACCCCGTCATCACTCCCGCCCCTCCTCACACCGGGCTGATGTCGGCCGCGGCCCTGAGCAGAGTGGACAGGGCAGCCTTGCTCCTGCACGCTGCTCCTGGAGCCACAGGGCCCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTGACTCTCCCTCCGCAATGTAGGGCCTGACTTTGGCACAAGGCGCCACGGCCGCGTAGCAGCTGTTGAGAGCATCCAGGTTCTCCTTGGACTGGGAGATGCTGAAGCCGCTGAAGGAACGCTCCAGCTCCTCGTGGTCCACGGACGGGATGGAGATGGACGTGTCGCTGTCCCGCAGGTTCCCCTCGGGGGGCCTGCAGCCCGGGGTGTCCTCCTGCCGCAGGAACTCCATGCTGGCGCGGTTGCCCCCGCCGTAGGCGGACAGCGACCGCTCGTGGGCAGGCGGCGGCGGGATGCGCACCAGGGAGCCGTGGTCCCCCACGGGGGAGGTGCCGTGGCCCTGGCGCGGGTGGCTCTGTGGCTGCCAGGAGGTGGAGGGCGGACACTGGACAGGGGGCGCGGCCGGGGGCGCCGAGAAGTTCTTCTGGCCCGTGGAGCTGCTGGAGCGCACGATCTTGACAATGCAGCCGTGCCTGTCGACATGCTCCCGGCTGTCTTCCGGGCTGTGGTACGGCGGCGCCGGCTCCGGCTCTTTGGCCCCAAAGTAGGCCTCGGTCTCTGTCGGGGGGATGCCCATCCGCTGCATGTAGATATTCACCAGGAAGTCCAGCTTCTTCTCCATGGACAAGACCTGCAAAAGGGGCTGCTGGGCTGGGGTGCGAGGGCCCGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAATGGGGGACCCAGGCTAGTCCCAGGAAATGGGGGGGACCCAGGCTGGTCCTAGGAGATGGGGGGACCTGGACCACTCCCAGGAAGTCGGTCGACTTGGGCTGGTCCCAGGAGGTGGGGGGACCTGGGTTGCTCCCTGGAGAGGTACAGGGAGGGGGGATCCCTGCTCCCTGGAAGCTGGAGGAGCGGGAAGAGGAGGCCCAGGAGCAGCTCTTCCTCCTTCCCAGACCCCTAGGGGCAAAGCCTCCAGCTCCACGGTTGGGGCGTGTGTTCAGAGCCAGGCCCTCCTGCTGCCCACCGTGGAACCCCCTTCAGGAAAGCCCCACAGGGCAGGACCTGGCAGTTCCTTACTCACTGCTCAGGCCCGGCTCTCAGAAGCAGGCCCCAAAACAAGGGTCCTCTGCGGTGGTTCCTGAGAATGCACCCCCAGAAGACAGCGGCCAGGGTGTCGGGCAAGGAGGACAGAGAGGAGGAAGGCCAGGCAGGTACAACTTCCGGCACGTTCCACAAGGAACCCCTGAGGGATCCACCTCTCAGCAGCCCCCACCCAGGACTCCTGGGGACTTTGGCCCTTGGGTACTGTCAGGAGGGAAGGCACCCAGGCCGGGGGTGGGAGGCTCACGGTGGGGTGTGAGGGGTCTGCACAGAGCAGCTGTCAGTGGTGACAGGGCCATGTAAACCCTAGACTTGAGGAGCCCTCCGTGGCACCCAGCCCCTGAAGCCCACACTGCCACAGGTTGACGGCAGGCACCACAGCCCTCCAGCCCCGCACCCCTCCCGCCCAGCCTCTCGCACCTGCTTCTCCACCTTCCCGAGCCGTCCCATCATGCTGGGGTCCTCGGGCAGCTCCGCCTCGGCCGGGCCCTTGGTGCGGTCCTTGTCCGTGATCGCTGGGCCCCGCCCCACGATCTGGTCCACTCTACCGGGAACAGAGACCCCAAAGCATGAGTTCGGGTGGGTGCAGCAGGGCCCCTGCCCTCTCCTCCTGGACCAGGCCACAGTGCCCCTGGGTCTAGGCTGCAGGCTCAGCCCAGAGCCGACCAGGGGGCAGTGGGTGCCAGGACAGATGGACGGGGTGCGCCCCGTTCTCAGCCCGTCTTCTGGCACCGTGAGGTTCTGCTCCTGCCCGCTCTGTCCCCAAGGGGCCTGGCACATTAGCGAGGAGTAAAGTAAGGACGCTCCCACCAGGGCCGAGTCGCCCGGCTCCTCTCCGTGGGCTCCCGGCTCCATACCGCCCCCTCCAGCCAGCCCCACCTGCTCACCCTCTTCCCTGCCCAAGGCCTATTGGCCCCACAGCCCACGGAGGGTCTCCCACTGCAGGGCCTGGAGCCCACTCCAGAGGATGCCCCTCCCCCTACCCGTGCCCACCCCGGAGCT
|
CCAGCGGAGGCACCTCAATGGCGACAGGGCCTGGGAGTGCCCTGGCCGGGCTGGGGGTAGGCAGAGAGGCCAGGGCAGCAGCTCCCCACAATGGACGCCAGACATGGCTCCCCGAACACCCTGAGCGCCAGGACCCCCACCAGCCAGGGGCGTACGACCCTCAAATGCTGCTTTCAAAGTCCTCTCCCTCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGACGGTGCACCCGAGGCCCGAGACCCCAAGAGGCCCCGCTAAGGAATCGGTCAGTGGAGAAGGGGCCATCAGCTCCAGGGGGCAGGAGAGCTAGGGAGGGCGCACAGCTGGGCTGAGGTGGGAGTGGTTTCCTCCGGAAAGGCGGGGAGGGCGGCCCTGTGCTGACGGTGGAGGCTATCCTGGCCCGCTGCATCATGGCCCAGCCCTGCCCCAGGTCTGTCGGGGCACTGGTGGGACACAGGCGAGGTGGGGCCCTGGCTAAGAACTGTGAGGCCTGCTCACCAGGTGGGTCTCGCAGTGCCGGCACCCGGCCAGGGCAGTCAGGAGAGAGGGGAGGACTTGGGGTCCTGCCCCCCCGGTCTCCAAGGCTGGGGTGCTGCTGGCTCTCACGCACCCACAGAAAGGCCAGGGCGAGGCAGCTGGAGCCCCCAAGGACCCCCTTTTTGAAGACCCTTTGGAGCCGGCTCCCTGGCCCCACCGTGAGCCAGGCCCTCCCTCTGGAGGCCAAGACCAGAGGGCTGGACGTCCACTCTGGCTCCAGTTTGGTTCCCAGGCCCCACCCGCTCCTCGGCTGCAGGCGAAGGTCTCCACCTCGGGGCTGGCTTCCATGGAAAGAGCCCTCAGATCCCAGAAGGTACAGGGAGAAGACGCCAACCAATAGCTCTGTATTTGGGCGCCCCTGAGGTGGGGAACAGGAAAGCCCGCCGGGCAGGTCAGGTGTGAAGGCAGAGGCCACGCACAGCGGCCGGCCACACCCGCCTGTAGCTGCCCGGAAACCCCACCGGGACCCAAGGCCGCAGGTCCTCACCAAACAGGCCCGCCCTTTGCGCAGGTCCTCAGGGAACAGGCCTGCCCTTTGTGCCTCCCCTGGGCTCGGCTGAGACAACCCCCCGCCTGTTGCCACGCTGGCAACACCCCGTCATCACTCCCGCCCCTCCTCACACCGGGCTGATGTCGGCCGCGGCCCTGAGCAGAGTGGACAGGGCAGCCTTGCTCCTGCACGCTGCTCCTGGAGCCACAGGGCCCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTGACTCTCCCTCCGCAATGTAGGGCCTGACTTTGGCACAAGGCGCCACGGCCGCGTAGCAGCTGTTGAGAGCATCCAGGTTCTCCTTGGACTGGGAGATGCTGAAGCCGCTGAAGGAACGCTCCAGCTCCTCGTGGTCCACGGACGGGATGGAGATGGACGTGTCGCTGTCCCGCAGGTTCCCCTCGGGGGGCCTGCAGCCCGGGTGTCCTCCTGCCGCAGGAACTCCATGCTGGCGCGGTTGCCCCCGCCGTAGGCGGACAGCGACCGCTCGTGGGCAGGCGGCGGCGGGATGCGCACCAGGGAGCCGTGGTCCCCCACGGGGGAGGTGCCGTGGCCCTGGCGCGGGTGGCTCTGTGGCTGCCAGGAGGTGGAGGGCGGACACTGGACAGGGGGCGCGGCCGGGGGCGCCGAGAAGTTCTTCTGGCCCGTGGAGCTGCTGGAGCGCACGATCTTGACAATGCAGCCGTGCCTGTCGACATGCTCCCGGCTGTCTTCCGGGCTGTGGTACGGCGGCGCCGGCTCCGGCTCTTTGGCCCCAAAGTAGGCCTCGGTCTCTGTCGGGGGGATGCCCATCCGCTGCATGTAGATATTCACCAGGAAGTCCAGCTTCTTCTCCATGGACAAGACCTGCAAAAGGGGCTGCTGGGCTGGGGTGCGAGGGCCCGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAATGGGGGACCCAGGCTAGTCCCAGGAAATGGGGGGGACCCAGGCTGGTCCTAGGAGATGGGGGGACCTGGACCACTCCCAGGAAGTCGGTCGACTTGGGCTGGTCCCAGGAGGTGGGGGGACCTGGGTTGCTCCCTGGAGAGGTACAGGGAGGGGGGATCCCTGCTCCCTGGAAGCTGGAGGAGCGGGAAGAGGAGGCCCAGGAGCAGCTCTTCCTCCTTCCCAGACCCCTAGGGGCAAAGCCTCCAGCTCCACGGTTGGGGCGTGTGTTCAGAGCCAGGCCCTCCTGCTGCCCACCGTGGAACCCCCTTCAGGAAAGCCCCACAGGGCAGGACCTGGCAGTTCCTTACTCACTGCTCAGGCCCGGCTCTCAGAAGCAGGCCCCAAAACAAGGGTCCTCTGCGGTGGTTCCTGAGAATGCACCCCCAGAAGACAGCGGCCAGGGTGTCGGGCAAGGAGGACAGAGAGGAGGAAGGCCAGGCAGGTACAACTTCCGGCACGTTCCACAAGGAACCCCTGAGGGATCCACCTCTCAGCAGCCCCCACCCAGGACTCCTGGGGACTTTGGCCCTTGGGTACTGTCAGGAGGGAAGGCACCCAGGCCGGGGGTGGGAGGCTCACGGTGGGGTGTGAGGGGTCTGCACAGAGCAGCTGTCAGTGGTGACAGGGCCATGTAAACCCTAGACTTGAGGAGCCCTCCGTGGCACCCAGCCCCTGAAGCCCACACTGCCACAGGTTGACGGCAGGCACCACAGCCCTCCAGCCCCGCACCCCTCCCGCCCAGCCTCTCGCACCTGCTTCTCCACCTTCCCGAGCCGTCCCATCATGCTGGGGTCCTCGGGCAGCTCCGCCTCGGCCGGGCCCTTGGTGCGGTCCTTGTCCGTGATCGCTGGGCCCCGCCCCACGATCTGGTCCACTCTACCGGGAACAGAGACCCCAAAGCATGAGTTCGGGTGGGTGCAGCAGGGCCCCTGCCCTCTCCTCCTGGACCAGGCCACAGTGCCCCTGGGTCTAGGCTGCAGGCTCAGCCCAGAGCCGACCAGGGGGCAGTGGGTGCCAGGACAGATGGACGGGGTGCGCCCCGTTCTCAGCCCGTCTTCTGGCACCGTGAGGTTCTGCTCCTGCCCGCTCTGTCCCCAAGGGGCCTGGCACATTAGCGAGGAGTAAAGTAAGGACGCTCCCACCAGGGCCGAGTCGCCCGGCTCCTCTCCGTGGGCTCCCGGCTCCATACCGCCCCCTCCAGCCAGCCCCACCTGCTCACCCTCTTCCCTGCCCAAGGCCTATTGGCCCCACAGCCCACGGAGGGTCTCCCACTGCAGGGCCTGGAGCCCACTCCAGAGGATGCCCCTCCCCCTACCCGTGCCCACCCCGGAGCTN
|
pathogenic
| 316,074 |
The mutation in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) at chromosome 20, position 63406986—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts']
|
CCCTGGCCGGGCTGGGGGTAGGCAGAGAGGCCAGGGCAGCAGCTCCCCACAATGGACGCCAGACATGGCTCCCCGAACACCCTGAGCGCCAGGACCCCCACCAGCCAGGGGCGTACGACCCTCAAATGCTGCTTTCAAAGTCCTCTCCCTCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGACGGTGCACCCGAGGCCCGAGACCCCAAGAGGCCCCGCTAAGGAATCGGTCAGTGGAGAAGGGGCCATCAGCTCCAGGGGGCAGGAGAGCTAGGGAGGGCGCACAGCTGGGCTGAGGTGGGAGTGGTTTCCTCCGGAAAGGCGGGGAGGGCGGCCCTGTGCTGACGGTGGAGGCTATCCTGGCCCGCTGCATCATGGCCCAGCCCTGCCCCAGGTCTGTCGGGGCACTGGTGGGACACAGGCGAGGTGGGGCCCTGGCTAAGAACTGTGAGGCCTGCTCACCAGGTGGGTCTCGCAGTGCCGGCACCCGGCCAGGGCAGTCAGGAGAGAGGGGAGGACTTGGGGTCCTGCCCCCCCGGTCTCCAAGGCTGGGGTGCTGCTGGCTCTCACGCACCCACAGAAAGGCCAGGGCGAGGCAGCTGGAGCCCCCAAGGACCCCCTTTTTGAAGACCCTTTGGAGCCGGCTCCCTGGCCCCACCGTGAGCCAGGCCCTCCCTCTGGAGGCCAAGACCAGAGGGCTGGACGTCCACTCTGGCTCCAGTTTGGTTCCCAGGCCCCACCCGCTCCTCGGCTGCAGGCGAAGGTCTCCACCTCGGGGCTGGCTTCCATGGAAAGAGCCCTCAGATCCCAGAAGGTACAGGGAGAAGACGCCAACCAATAGCTCTGTATTTGGGCGCCCCTGAGGTGGGGAACAGGAAAGCCCGCCGGGCAGGTCAGGTGTGAAGGCAGAGGCCACGCACAGCGGCCGGCCACACCCGCCTGTAGCTGCCCGGAAACCCCACCGGGACCCAAGGCCGCAGGTCCTCACCAAACAGGCCCGCCCTTTGCGCAGGTCCTCAGGGAACAGGCCTGCCCTTTGTGCCTCCCCTGGGCTCGGCTGAGACAACCCCCCGCCTGTTGCCACGCTGGCAACACCCCGTCATCACTCCCGCCCCTCCTCACACCGGGCTGATGTCGGCCGCGGCCCTGAGCAGAGTGGACAGGGCAGCCTTGCTCCTGCACGCTGCTCCTGGAGCCACAGGGCCCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTGACTCTCCCTCCGCAATGTAGGGCCTGACTTTGGCACAAGGCGCCACGGCCGCGTAGCAGCTGTTGAGAGCATCCAGGTTCTCCTTGGACTGGGAGATGCTGAAGCCGCTGAAGGAACGCTCCAGCTCCTCGTGGTCCACGGACGGGATGGAGATGGACGTGTCGCTGTCCCGCAGGTTCCCCTCGGGGGGCCTGCAGCCCGGGGTGTCCTCCTGCCGCAGGAACTCCATGCTGGCGCGGTTGCCCCCGCCGTAGGCGGACAGCGACCGCTCGTGGGCAGGCGGCGGCGGGATGCGCACCAGGGAGCCGTGGTCCCCCACGGGGGAGGTGCCGTGGCCCTGGCGCGGGTGGCTCTGTGGCTGCCAGGAGGTGGAGGGCGGACACTGGACAGGGGGCGCGGCCGGGGGCGCCGAGAAGTTCTTCTGGCCCGTGGAGCTGCTGGAGCGCACGATCTTGACAATGCAGCCGTGCCTGTCGACATGCTCCCGGCTGTCTTCCGGGCTGTGGTACGGCGGCGCCGGCTCCGGCTCTTTGGCCCCAAAGTAGGCCTCGGTCTCTGTCGGGGGGATGCCCATCCGCTGCATGTAGATATTCACCAGGAAGTCCAGCTTCTTCTCCATGGACAAGACCTGCAAAAGGGGCTGCTGGGCTGGGGTGCGAGGGCCCGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAATGGGGGACCCAGGCTAGTCCCAGGAAATGGGGGGGACCCAGGCTGGTCCTAGGAGATGGGGGGACCTGGACCACTCCCAGGAAGTCGGTCGACTTGGGCTGGTCCCAGGAGGTGGGGGGACCTGGGTTGCTCCCTGGAGAGGTACAGGGAGGGGGGATCCCTGCTCCCTGGAAGCTGGAGGAGCGGGAAGAGGAGGCCCAGGAGCAGCTCTTCCTCCTTCCCAGACCCCTAGGGGCAAAGCCTCCAGCTCCACGGTTGGGGCGTGTGTTCAGAGCCAGGCCCTCCTGCTGCCCACCGTGGAACCCCCTTCAGGAAAGCCCCACAGGGCAGGACCTGGCAGTTCCTTACTCACTGCTCAGGCCCGGCTCTCAGAAGCAGGCCCCAAAACAAGGGTCCTCTGCGGTGGTTCCTGAGAATGCACCCCCAGAAGACAGCGGCCAGGGTGTCGGGCAAGGAGGACAGAGAGGAGGAAGGCCAGGCAGGTACAACTTCCGGCACGTTCCACAAGGAACCCCTGAGGGATCCACCTCTCAGCAGCCCCCACCCAGGACTCCTGGGGACTTTGGCCCTTGGGTACTGTCAGGAGGGAAGGCACCCAGGCCGGGGGTGGGAGGCTCACGGTGGGGTGTGAGGGGTCTGCACAGAGCAGCTGTCAGTGGTGACAGGGCCATGTAAACCCTAGACTTGAGGAGCCCTCCGTGGCACCCAGCCCCTGAAGCCCACACTGCCACAGGTTGACGGCAGGCACCACAGCCCTCCAGCCCCGCACCCCTCCCGCCCAGCCTCTCGCACCTGCTTCTCCACCTTCCCGAGCCGTCCCATCATGCTGGGGTCCTCGGGCAGCTCCGCCTCGGCCGGGCCCTTGGTGCGGTCCTTGTCCGTGATCGCTGGGCCCCGCCCCACGATCTGGTCCACTCTACCGGGAACAGAGACCCCAAAGCATGAGTTCGGGTGGGTGCAGCAGGGCCCCTGCCCTCTCCTCCTGGACCAGGCCACAGTGCCCCTGGGTCTAGGCTGCAGGCTCAGCCCAGAGCCGACCAGGGGGCAGTGGGTGCCAGGACAGATGGACGGGGTGCGCCCCGTTCTCAGCCCGTCTTCTGGCACCGTGAGGTTCTGCTCCTGCCCGCTCTGTCCCCAAGGGGCCTGGCACATTAGCGAGGAGTAAAGTAAGGACGCTCCCACCAGGGCCGAGTCGCCCGGCTCCTCTCCGTGGGCTCCCGGCTCCATACCGCCCCCTCCAGCCAGCCCCACCTGCTCACCCTCTTCCCTGCCCAAGGCCTATTGGCCCCACAGCCCACGGAGGGTCTCCCACTGCAGGGCCTGGAGCCCACTCCAGAGGATGCCCCTCCCCCTACCCGTGCCCACCCCGGAGCTTTACTCCTACGTAATGTGCCACTGAAGCCGTCGGCCCCA
|
CCCTGGCCGGGCTGGGGGTAGGCAGAGAGGCCAGGGCAGCAGCTCCCCACAATGGACGCCAGACATGGCTCCCCGAACACCCTGAGCGCCAGGACCCCCACCAGCCAGGGGCGTACGACCCTCAAATGCTGCTTTCAAAGTCCTCTCCCTCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGACGGTGCACCCGAGGCCCGAGACCCCAAGAGGCCCCGCTAAGGAATCGGTCAGTGGAGAAGGGGCCATCAGCTCCAGGGGGCAGGAGAGCTAGGGAGGGCGCACAGCTGGGCTGAGGTGGGAGTGGTTTCCTCCGGAAAGGCGGGGAGGGCGGCCCTGTGCTGACGGTGGAGGCTATCCTGGCCCGCTGCATCATGGCCCAGCCCTGCCCCAGGTCTGTCGGGGCACTGGTGGGACACAGGCGAGGTGGGGCCCTGGCTAAGAACTGTGAGGCCTGCTCACCAGGTGGGTCTCGCAGTGCCGGCACCCGGCCAGGGCAGTCAGGAGAGAGGGGAGGACTTGGGGTCCTGCCCCCCCGGTCTCCAAGGCTGGGGTGCTGCTGGCTCTCACGCACCCACAGAAAGGCCAGGGCGAGGCAGCTGGAGCCCCCAAGGACCCCCTTTTTGAAGACCCTTTGGAGCCGGCTCCCTGGCCCCACCGTGAGCCAGGCCCTCCCTCTGGAGGCCAAGACCAGAGGGCTGGACGTCCACTCTGGCTCCAGTTTGGTTCCCAGGCCCCACCCGCTCCTCGGCTGCAGGCGAAGGTCTCCACCTCGGGGCTGGCTTCCATGGAAAGAGCCCTCAGATCCCAGAAGGTACAGGGAGAAGACGCCAACCAATAGCTCTGTATTTGGGCGCCCCTGAGGTGGGGAACAGGAAAGCCCGCCGGGCAGGTCAGGTGTGAAGGCAGAGGCCACGCACAGCGGCCGGCCACACCCGCCTGTAGCTGCCCGGAAACCCCACCGGGACCCAAGGCCGCAGGTCCTCACCAAACAGGCCCGCCCTTTGCGCAGGTCCTCAGGGAACAGGCCTGCCCTTTGTGCCTCCCCTGGGCTCGGCTGAGACAACCCCCCGCCTGTTGCCACGCTGGCAACACCCCGTCATCACTCCCGCCCCTCCTCACACCGGGCTGATGTCGGCCGCGGCCCTGAGCAGAGTGGACAGGGCAGCCTTGCTCCTGCACGCTGCTCCTGGAGCCACAGGGCCCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTGACTCTCCCTCCGCAATGTAGGGCCTGACTTTGGCACAAGGCGCCACGGCCGCGTAGCAGCTGTTGAGAGCATCCAGGTTCTCCTTGGACTGGGAGATGCTGAAGCCGCTGAAGGAACGCTCCAGCTCCTCGTGGTCCACGGACGGGATGGAGATGGACGTGTCGCTGTCCCGCAGGTTCCCCTCGGGGGGCCTGCAGCCCGGGGTGTCCTCCTGCCGCAGGAACTCCATGCTGGCGCGGTTTGCCCCCGCCGTAGGCGGACAGCGACCGCTCGTGGGCAGGCGGCGGCGGGATGCGCACCAGGGAGCCGTGGTCCCCCACGGGGGAGGTGCCGTGGCCCTGGCGCGGGTGGCTCTGTGGCTGCCAGGAGGTGGAGGGCGGACACTGGACAGGGGGCGCGGCCGGGGGCGCCGAGAAGTTCTTCTGGCCCGTGGAGCTGCTGGAGCGCACGATCTTGACAATGCAGCCGTGCCTGTCGACATGCTCCCGGCTGTCTTCCGGGCTGTGGTACGGCGGCGCCGGCTCCGGCTCTTTGGCCCCAAAGTAGGCCTCGGTCTCTGTCGGGGGGATGCCCATCCGCTGCATGTAGATATTCACCAGGAAGTCCAGCTTCTTCTCCATGGACAAGACCTGCAAAAGGGGCTGCTGGGCTGGGGTGCGAGGGCCCGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAATGGGGGACCCAGGCTAGTCCCAGGAAATGGGGGGGACCCAGGCTGGTCCTAGGAGATGGGGGGACCTGGACCACTCCCAGGAAGTCGGTCGACTTGGGCTGGTCCCAGGAGGTGGGGGGACCTGGGTTGCTCCCTGGAGAGGTACAGGGAGGGGGGATCCCTGCTCCCTGGAAGCTGGAGGAGCGGGAAGAGGAGGCCCAGGAGCAGCTCTTCCTCCTTCCCAGACCCCTAGGGGCAAAGCCTCCAGCTCCACGGTTGGGGCGTGTGTTCAGAGCCAGGCCCTCCTGCTGCCCACCGTGGAACCCCCTTCAGGAAAGCCCCACAGGGCAGGACCTGGCAGTTCCTTACTCACTGCTCAGGCCCGGCTCTCAGAAGCAGGCCCCAAAACAAGGGTCCTCTGCGGTGGTTCCTGAGAATGCACCCCCAGAAGACAGCGGCCAGGGTGTCGGGCAAGGAGGACAGAGAGGAGGAAGGCCAGGCAGGTACAACTTCCGGCACGTTCCACAAGGAACCCCTGAGGGATCCACCTCTCAGCAGCCCCCACCCAGGACTCCTGGGGACTTTGGCCCTTGGGTACTGTCAGGAGGGAAGGCACCCAGGCCGGGGGTGGGAGGCTCACGGTGGGGTGTGAGGGGTCTGCACAGAGCAGCTGTCAGTGGTGACAGGGCCATGTAAACCCTAGACTTGAGGAGCCCTCCGTGGCACCCAGCCCCTGAAGCCCACACTGCCACAGGTTGACGGCAGGCACCACAGCCCTCCAGCCCCGCACCCCTCCCGCCCAGCCTCTCGCACCTGCTTCTCCACCTTCCCGAGCCGTCCCATCATGCTGGGGTCCTCGGGCAGCTCCGCCTCGGCCGGGCCCTTGGTGCGGTCCTTGTCCGTGATCGCTGGGCCCCGCCCCACGATCTGGTCCACTCTACCGGGAACAGAGACCCCAAAGCATGAGTTCGGGTGGGTGCAGCAGGGCCCCTGCCCTCTCCTCCTGGACCAGGCCACAGTGCCCCTGGGTCTAGGCTGCAGGCTCAGCCCAGAGCCGACCAGGGGGCAGTGGGTGCCAGGACAGATGGACGGGGTGCGCCCCGTTCTCAGCCCGTCTTCTGGCACCGTGAGGTTCTGCTCCTGCCCGCTCTGTCCCCAAGGGGCCTGGCACATTAGCGAGGAGTAAAGTAAGGACGCTCCCACCAGGGCCGAGTCGCCCGGCTCCTCTCCGTGGGCTCCCGGCTCCATACCGCCCCCTCCAGCCAGCCCCACCTGCTCACCCTCTTCCCTGCCCAAGGCCTATTGGCCCCACAGCCCACGGAGGGTCTCCCACTGCAGGGCCTGGAGCCCACTCCAGAGGATGCCCCTCCCCCTACCCGTGCCCACCCCGGAGCTTTACTCCTACGTAATGTGCCACTGAAGCCGTCGGCCCC
|
pathogenic
| 316,075 |
Considering the variant on chromosome 20, location 63407135, involving gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_7', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Seizures,_benign_familial_neonatal,_1']
|
TCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGACGGTGCACCCGAGGCCCGAGACCCCAAGAGGCCCCGCTAAGGAATCGGTCAGTGGAGAAGGGGCCATCAGCTCCAGGGGGCAGGAGAGCTAGGGAGGGCGCACAGCTGGGCTGAGGTGGGAGTGGTTTCCTCCGGAAAGGCGGGGAGGGCGGCCCTGTGCTGACGGTGGAGGCTATCCTGGCCCGCTGCATCATGGCCCAGCCCTGCCCCAGGTCTGTCGGGGCACTGGTGGGACACAGGCGAGGTGGGGCCCTGGCTAAGAACTGTGAGGCCTGCTCACCAGGTGGGTCTCGCAGTGCCGGCACCCGGCCAGGGCAGTCAGGAGAGAGGGGAGGACTTGGGGTCCTGCCCCCCCGGTCTCCAAGGCTGGGGTGCTGCTGGCTCTCACGCACCCACAGAAAGGCCAGGGCGAGGCAGCTGGAGCCCCCAAGGACCCCCTTTTTGAAGACCCTTTGGAGCCGGCTCCCTGGCCCCACCGTGAGCCAGGCCCTCCCTCTGGAGGCCAAGACCAGAGGGCTGGACGTCCACTCTGGCTCCAGTTTGGTTCCCAGGCCCCACCCGCTCCTCGGCTGCAGGCGAAGGTCTCCACCTCGGGGCTGGCTTCCATGGAAAGAGCCCTCAGATCCCAGAAGGTACAGGGAGAAGACGCCAACCAATAGCTCTGTATTTGGGCGCCCCTGAGGTGGGGAACAGGAAAGCCCGCCGGGCAGGTCAGGTGTGAAGGCAGAGGCCACGCACAGCGGCCGGCCACACCCGCCTGTAGCTGCCCGGAAACCCCACCGGGACCCAAGGCCGCAGGTCCTCACCAAACAGGCCCGCCCTTTGCGCAGGTCCTCAGGGAACAGGCCTGCCCTTTGTGCCTCCCCTGGGCTCGGCTGAGACAACCCCCCGCCTGTTGCCACGCTGGCAACACCCCGTCATCACTCCCGCCCCTCCTCACACCGGGCTGATGTCGGCCGCGGCCCTGAGCAGAGTGGACAGGGCAGCCTTGCTCCTGCACGCTGCTCCTGGAGCCACAGGGCCCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTGACTCTCCCTCCGCAATGTAGGGCCTGACTTTGGCACAAGGCGCCACGGCCGCGTAGCAGCTGTTGAGAGCATCCAGGTTCTCCTTGGACTGGGAGATGCTGAAGCCGCTGAAGGAACGCTCCAGCTCCTCGTGGTCCACGGACGGGATGGAGATGGACGTGTCGCTGTCCCGCAGGTTCCCCTCGGGGGGCCTGCAGCCCGGGGTGTCCTCCTGCCGCAGGAACTCCATGCTGGCGCGGTTGCCCCCGCCGTAGGCGGACAGCGACCGCTCGTGGGCAGGCGGCGGCGGGATGCGCACCAGGGAGCCGTGGTCCCCCACGGGGGAGGTGCCGTGGCCCTGGCGCGGGTGGCTCTGTGGCTGCCAGGAGGTGGAGGGCGGACACTGGACAGGGGGCGCGGCCGGGGGCGCCGAGAAGTTCTTCTGGCCCGTGGAGCTGCTGGAGCGCACGATCTTGACAATGCAGCCGTGCCTGTCGACATGCTCCCGGCTGTCTTCCGGGCTGTGGTACGGCGGCGCCGGCTCCGGCTCTTTGGCCCCAAAGTAGGCCTCGGTCTCTGTCGGGGGGATGCCCATCCGCTGCATGTAGATATTCACCAGGAAGTCCAGCTTCTTCTCCATGGACAAGACCTGCAAAAGGGGCTGCTGGGCTGGGGTGCGAGGGCCCGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAATGGGGGACCCAGGCTAGTCCCAGGAAATGGGGGGGACCCAGGCTGGTCCTAGGAGATGGGGGGACCTGGACCACTCCCAGGAAGTCGGTCGACTTGGGCTGGTCCCAGGAGGTGGGGGGACCTGGGTTGCTCCCTGGAGAGGTACAGGGAGGGGGGATCCCTGCTCCCTGGAAGCTGGAGGAGCGGGAAGAGGAGGCCCAGGAGCAGCTCTTCCTCCTTCCCAGACCCCTAGGGGCAAAGCCTCCAGCTCCACGGTTGGGGCGTGTGTTCAGAGCCAGGCCCTCCTGCTGCCCACCGTGGAACCCCCTTCAGGAAAGCCCCACAGGGCAGGACCTGGCAGTTCCTTACTCACTGCTCAGGCCCGGCTCTCAGAAGCAGGCCCCAAAACAAGGGTCCTCTGCGGTGGTTCCTGAGAATGCACCCCCAGAAGACAGCGGCCAGGGTGTCGGGCAAGGAGGACAGAGAGGAGGAAGGCCAGGCAGGTACAACTTCCGGCACGTTCCACAAGGAACCCCTGAGGGATCCACCTCTCAGCAGCCCCCACCCAGGACTCCTGGGGACTTTGGCCCTTGGGTACTGTCAGGAGGGAAGGCACCCAGGCCGGGGGTGGGAGGCTCACGGTGGGGTGTGAGGGGTCTGCACAGAGCAGCTGTCAGTGGTGACAGGGCCATGTAAACCCTAGACTTGAGGAGCCCTCCGTGGCACCCAGCCCCTGAAGCCCACACTGCCACAGGTTGACGGCAGGCACCACAGCCCTCCAGCCCCGCACCCCTCCCGCCCAGCCTCTCGCACCTGCTTCTCCACCTTCCCGAGCCGTCCCATCATGCTGGGGTCCTCGGGCAGCTCCGCCTCGGCCGGGCCCTTGGTGCGGTCCTTGTCCGTGATCGCTGGGCCCCGCCCCACGATCTGGTCCACTCTACCGGGAACAGAGACCCCAAAGCATGAGTTCGGGTGGGTGCAGCAGGGCCCCTGCCCTCTCCTCCTGGACCAGGCCACAGTGCCCCTGGGTCTAGGCTGCAGGCTCAGCCCAGAGCCGACCAGGGGGCAGTGGGTGCCAGGACAGATGGACGGGGTGCGCCCCGTTCTCAGCCCGTCTTCTGGCACCGTGAGGTTCTGCTCCTGCCCGCTCTGTCCCCAAGGGGCCTGGCACATTAGCGAGGAGTAAAGTAAGGACGCTCCCACCAGGGCCGAGTCGCCCGGCTCCTCTCCGTGGGCTCCCGGCTCCATACCGCCCCCTCCAGCCAGCCCCACCTGCTCACCCTCTTCCCTGCCCAAGGCCTATTGGCCCCACAGCCCACGGAGGGTCTCCCACTGCAGGGCCTGGAGCCCACTCCAGAGGATGCCCCTCCCCCTACCCGTGCCCACCCCGGAGCTTTACTCCTACGTAATGTGCCACTGAAGCCGTCGGCCCCACCGGGTCTGATGGGGACGGAGTTAAATGTCTGCGGCGGGGACAACAGAAGCAGAAAAGGCGTGAGAGCTGCGGCTCCATGCACCAGGACAAGGAGAGAAGGCCCAGAGCAGCACAGGAACCAACGCACAAACCAGAAGAGGGGAGACAA
|
TCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGACGGTGCACCCGAGGCCCGAGACCCCAAGAGGCCCCGCTAAGGAATCGGTCAGTGGAGAAGGGGCCATCAGCTCCAGGGGGCAGGAGAGCTAGGGAGGGCGCACAGCTGGGCTGAGGTGGGAGTGGTTTCCTCCGGAAAGGCGGGGAGGGCGGCCCTGTGCTGACGGTGGAGGCTATCCTGGCCCGCTGCATCATGGCCCAGCCCTGCCCCAGGTCTGTCGGGGCACTGGTGGGACACAGGCGAGGTGGGGCCCTGGCTAAGAACTGTGAGGCCTGCTCACCAGGTGGGTCTCGCAGTGCCGGCACCCGGCCAGGGCAGTCAGGAGAGAGGGGAGGACTTGGGGTCCTGCCCCCCCGGTCTCCAAGGCTGGGGTGCTGCTGGCTCTCACGCACCCACAGAAAGGCCAGGGCGAGGCAGCTGGAGCCCCCAAGGACCCCCTTTTTGAAGACCCTTTGGAGCCGGCTCCCTGGCCCCACCGTGAGCCAGGCCCTCCCTCTGGAGGCCAAGACCAGAGGGCTGGACGTCCACTCTGGCTCCAGTTTGGTTCCCAGGCCCCACCCGCTCCTCGGCTGCAGGCGAAGGTCTCCACCTCGGGGCTGGCTTCCATGGAAAGAGCCCTCAGATCCCAGAAGGTACAGGGAGAAGACGCCAACCAATAGCTCTGTATTTGGGCGCCCCTGAGGTGGGGAACAGGAAAGCCCGCCGGGCAGGTCAGGTGTGAAGGCAGAGGCCACGCACAGCGGCCGGCCACACCCGCCTGTAGCTGCCCGGAAACCCCACCGGGACCCAAGGCCGCAGGTCCTCACCAAACAGGCCCGCCCTTTGCGCAGGTCCTCAGGGAACAGGCCTGCCCTTTGTGCCTCCCCTGGGCTCGGCTGAGACAACCCCCCGCCTGTTGCCACGCTGGCAACACCCCGTCATCACTCCCGCCCCTCCTCACACCGGGCTGATGTCGGCCGCGGCCCTGAGCAGAGTGGACAGGGCAGCCTTGCTCCTGCACGCTGCTCCTGGAGCCACAGGGCCCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTGACTCTCCCTCCGCAATGTAGGGCCTGACTTTGGCACAAGGCGCCACGGCCGCGTAGCAGCTGTTGAGAGCATCCAGGTTCTCCTTGGACTGGGAGATGCTGAAGCCGCTGAAGGAACGCTCCAGCTCCTCGTGGTCCACGGACGGGATGGAGATGGACGTGTCGCTGTCCCGCAGGTTCCCCTCGGGGGGCCTGCAGCCCGGGGTGTCCTCCTGCCGCAGGAACTCCATGCTGGCGCGGTTGCCCCCGCCGTAGGCGGACAGCGACCGCTCGTGGGCAGGCGGCGGCGGGATGCGCACCAGGGAGCCGTGGTCCCCCACGGGGGAGGTGCCGTGGCCCTGGCGCGGGTGGCTCTGTGGCTGCCAGGAGGTGGAGGGCGGACACTGGACGGGGGCGCGGCCGGGGGCGCCGAGAAGTTCTTCTGGCCCGTGGAGCTGCTGGAGCGCACGATCTTGACAATGCAGCCGTGCCTGTCGACATGCTCCCGGCTGTCTTCCGGGCTGTGGTACGGCGGCGCCGGCTCCGGCTCTTTGGCCCCAAAGTAGGCCTCGGTCTCTGTCGGGGGGATGCCCATCCGCTGCATGTAGATATTCACCAGGAAGTCCAGCTTCTTCTCCATGGACAAGACCTGCAAAAGGGGCTGCTGGGCTGGGGTGCGAGGGCCCGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAATGGGGGACCCAGGCTAGTCCCAGGAAATGGGGGGGACCCAGGCTGGTCCTAGGAGATGGGGGGACCTGGACCACTCCCAGGAAGTCGGTCGACTTGGGCTGGTCCCAGGAGGTGGGGGGACCTGGGTTGCTCCCTGGAGAGGTACAGGGAGGGGGGATCCCTGCTCCCTGGAAGCTGGAGGAGCGGGAAGAGGAGGCCCAGGAGCAGCTCTTCCTCCTTCCCAGACCCCTAGGGGCAAAGCCTCCAGCTCCACGGTTGGGGCGTGTGTTCAGAGCCAGGCCCTCCTGCTGCCCACCGTGGAACCCCCTTCAGGAAAGCCCCACAGGGCAGGACCTGGCAGTTCCTTACTCACTGCTCAGGCCCGGCTCTCAGAAGCAGGCCCCAAAACAAGGGTCCTCTGCGGTGGTTCCTGAGAATGCACCCCCAGAAGACAGCGGCCAGGGTGTCGGGCAAGGAGGACAGAGAGGAGGAAGGCCAGGCAGGTACAACTTCCGGCACGTTCCACAAGGAACCCCTGAGGGATCCACCTCTCAGCAGCCCCCACCCAGGACTCCTGGGGACTTTGGCCCTTGGGTACTGTCAGGAGGGAAGGCACCCAGGCCGGGGGTGGGAGGCTCACGGTGGGGTGTGAGGGGTCTGCACAGAGCAGCTGTCAGTGGTGACAGGGCCATGTAAACCCTAGACTTGAGGAGCCCTCCGTGGCACCCAGCCCCTGAAGCCCACACTGCCACAGGTTGACGGCAGGCACCACAGCCCTCCAGCCCCGCACCCCTCCCGCCCAGCCTCTCGCACCTGCTTCTCCACCTTCCCGAGCCGTCCCATCATGCTGGGGTCCTCGGGCAGCTCCGCCTCGGCCGGGCCCTTGGTGCGGTCCTTGTCCGTGATCGCTGGGCCCCGCCCCACGATCTGGTCCACTCTACCGGGAACAGAGACCCCAAAGCATGAGTTCGGGTGGGTGCAGCAGGGCCCCTGCCCTCTCCTCCTGGACCAGGCCACAGTGCCCCTGGGTCTAGGCTGCAGGCTCAGCCCAGAGCCGACCAGGGGGCAGTGGGTGCCAGGACAGATGGACGGGGTGCGCCCCGTTCTCAGCCCGTCTTCTGGCACCGTGAGGTTCTGCTCCTGCCCGCTCTGTCCCCAAGGGGCCTGGCACATTAGCGAGGAGTAAAGTAAGGACGCTCCCACCAGGGCCGAGTCGCCCGGCTCCTCTCCGTGGGCTCCCGGCTCCATACCGCCCCCTCCAGCCAGCCCCACCTGCTCACCCTCTTCCCTGCCCAAGGCCTATTGGCCCCACAGCCCACGGAGGGTCTCCCACTGCAGGGCCTGGAGCCCACTCCAGAGGATGCCCCTCCCCCTACCCGTGCCCACCCCGGAGCTTTACTCCTACGTAATGTGCCACTGAAGCCGTCGGCCCCACCGGGTCTGATGGGGACGGAGTTAAATGTCTGCGGCGGGGACAACAGAAGCAGAAAAGGCGTGAGAGCTGCGGCTCCATGCACCAGGACAAGGAGAGAAGGCCCAGAGCAGCACAGGAACCAACGCACAAACCAGAAGAGGGGAGACAAN
|
pathogenic
| 316,090 |
Clinical significance of chromosome 20, position 63407135, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Inborn_genetic_diseases']
|
TCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGACGGTGCACCCGAGGCCCGAGACCCCAAGAGGCCCCGCTAAGGAATCGGTCAGTGGAGAAGGGGCCATCAGCTCCAGGGGGCAGGAGAGCTAGGGAGGGCGCACAGCTGGGCTGAGGTGGGAGTGGTTTCCTCCGGAAAGGCGGGGAGGGCGGCCCTGTGCTGACGGTGGAGGCTATCCTGGCCCGCTGCATCATGGCCCAGCCCTGCCCCAGGTCTGTCGGGGCACTGGTGGGACACAGGCGAGGTGGGGCCCTGGCTAAGAACTGTGAGGCCTGCTCACCAGGTGGGTCTCGCAGTGCCGGCACCCGGCCAGGGCAGTCAGGAGAGAGGGGAGGACTTGGGGTCCTGCCCCCCCGGTCTCCAAGGCTGGGGTGCTGCTGGCTCTCACGCACCCACAGAAAGGCCAGGGCGAGGCAGCTGGAGCCCCCAAGGACCCCCTTTTTGAAGACCCTTTGGAGCCGGCTCCCTGGCCCCACCGTGAGCCAGGCCCTCCCTCTGGAGGCCAAGACCAGAGGGCTGGACGTCCACTCTGGCTCCAGTTTGGTTCCCAGGCCCCACCCGCTCCTCGGCTGCAGGCGAAGGTCTCCACCTCGGGGCTGGCTTCCATGGAAAGAGCCCTCAGATCCCAGAAGGTACAGGGAGAAGACGCCAACCAATAGCTCTGTATTTGGGCGCCCCTGAGGTGGGGAACAGGAAAGCCCGCCGGGCAGGTCAGGTGTGAAGGCAGAGGCCACGCACAGCGGCCGGCCACACCCGCCTGTAGCTGCCCGGAAACCCCACCGGGACCCAAGGCCGCAGGTCCTCACCAAACAGGCCCGCCCTTTGCGCAGGTCCTCAGGGAACAGGCCTGCCCTTTGTGCCTCCCCTGGGCTCGGCTGAGACAACCCCCCGCCTGTTGCCACGCTGGCAACACCCCGTCATCACTCCCGCCCCTCCTCACACCGGGCTGATGTCGGCCGCGGCCCTGAGCAGAGTGGACAGGGCAGCCTTGCTCCTGCACGCTGCTCCTGGAGCCACAGGGCCCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTGACTCTCCCTCCGCAATGTAGGGCCTGACTTTGGCACAAGGCGCCACGGCCGCGTAGCAGCTGTTGAGAGCATCCAGGTTCTCCTTGGACTGGGAGATGCTGAAGCCGCTGAAGGAACGCTCCAGCTCCTCGTGGTCCACGGACGGGATGGAGATGGACGTGTCGCTGTCCCGCAGGTTCCCCTCGGGGGGCCTGCAGCCCGGGGTGTCCTCCTGCCGCAGGAACTCCATGCTGGCGCGGTTGCCCCCGCCGTAGGCGGACAGCGACCGCTCGTGGGCAGGCGGCGGCGGGATGCGCACCAGGGAGCCGTGGTCCCCCACGGGGGAGGTGCCGTGGCCCTGGCGCGGGTGGCTCTGTGGCTGCCAGGAGGTGGAGGGCGGACACTGGACAGGGGGCGCGGCCGGGGGCGCCGAGAAGTTCTTCTGGCCCGTGGAGCTGCTGGAGCGCACGATCTTGACAATGCAGCCGTGCCTGTCGACATGCTCCCGGCTGTCTTCCGGGCTGTGGTACGGCGGCGCCGGCTCCGGCTCTTTGGCCCCAAAGTAGGCCTCGGTCTCTGTCGGGGGGATGCCCATCCGCTGCATGTAGATATTCACCAGGAAGTCCAGCTTCTTCTCCATGGACAAGACCTGCAAAAGGGGCTGCTGGGCTGGGGTGCGAGGGCCCGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAATGGGGGACCCAGGCTAGTCCCAGGAAATGGGGGGGACCCAGGCTGGTCCTAGGAGATGGGGGGACCTGGACCACTCCCAGGAAGTCGGTCGACTTGGGCTGGTCCCAGGAGGTGGGGGGACCTGGGTTGCTCCCTGGAGAGGTACAGGGAGGGGGGATCCCTGCTCCCTGGAAGCTGGAGGAGCGGGAAGAGGAGGCCCAGGAGCAGCTCTTCCTCCTTCCCAGACCCCTAGGGGCAAAGCCTCCAGCTCCACGGTTGGGGCGTGTGTTCAGAGCCAGGCCCTCCTGCTGCCCACCGTGGAACCCCCTTCAGGAAAGCCCCACAGGGCAGGACCTGGCAGTTCCTTACTCACTGCTCAGGCCCGGCTCTCAGAAGCAGGCCCCAAAACAAGGGTCCTCTGCGGTGGTTCCTGAGAATGCACCCCCAGAAGACAGCGGCCAGGGTGTCGGGCAAGGAGGACAGAGAGGAGGAAGGCCAGGCAGGTACAACTTCCGGCACGTTCCACAAGGAACCCCTGAGGGATCCACCTCTCAGCAGCCCCCACCCAGGACTCCTGGGGACTTTGGCCCTTGGGTACTGTCAGGAGGGAAGGCACCCAGGCCGGGGGTGGGAGGCTCACGGTGGGGTGTGAGGGGTCTGCACAGAGCAGCTGTCAGTGGTGACAGGGCCATGTAAACCCTAGACTTGAGGAGCCCTCCGTGGCACCCAGCCCCTGAAGCCCACACTGCCACAGGTTGACGGCAGGCACCACAGCCCTCCAGCCCCGCACCCCTCCCGCCCAGCCTCTCGCACCTGCTTCTCCACCTTCCCGAGCCGTCCCATCATGCTGGGGTCCTCGGGCAGCTCCGCCTCGGCCGGGCCCTTGGTGCGGTCCTTGTCCGTGATCGCTGGGCCCCGCCCCACGATCTGGTCCACTCTACCGGGAACAGAGACCCCAAAGCATGAGTTCGGGTGGGTGCAGCAGGGCCCCTGCCCTCTCCTCCTGGACCAGGCCACAGTGCCCCTGGGTCTAGGCTGCAGGCTCAGCCCAGAGCCGACCAGGGGGCAGTGGGTGCCAGGACAGATGGACGGGGTGCGCCCCGTTCTCAGCCCGTCTTCTGGCACCGTGAGGTTCTGCTCCTGCCCGCTCTGTCCCCAAGGGGCCTGGCACATTAGCGAGGAGTAAAGTAAGGACGCTCCCACCAGGGCCGAGTCGCCCGGCTCCTCTCCGTGGGCTCCCGGCTCCATACCGCCCCCTCCAGCCAGCCCCACCTGCTCACCCTCTTCCCTGCCCAAGGCCTATTGGCCCCACAGCCCACGGAGGGTCTCCCACTGCAGGGCCTGGAGCCCACTCCAGAGGATGCCCCTCCCCCTACCCGTGCCCACCCCGGAGCTTTACTCCTACGTAATGTGCCACTGAAGCCGTCGGCCCCACCGGGTCTGATGGGGACGGAGTTAAATGTCTGCGGCGGGGACAACAGAAGCAGAAAAGGCGTGAGAGCTGCGGCTCCATGCACCAGGACAAGGAGAGAAGGCCCAGAGCAGCACAGGAACCAACGCACAAACCAGAAGAGGGGAGACAA
|
TCAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGACGGTGCACCCGAGGCCCGAGACCCCAAGAGGCCCCGCTAAGGAATCGGTCAGTGGAGAAGGGGCCATCAGCTCCAGGGGGCAGGAGAGCTAGGGAGGGCGCACAGCTGGGCTGAGGTGGGAGTGGTTTCCTCCGGAAAGGCGGGGAGGGCGGCCCTGTGCTGACGGTGGAGGCTATCCTGGCCCGCTGCATCATGGCCCAGCCCTGCCCCAGGTCTGTCGGGGCACTGGTGGGACACAGGCGAGGTGGGGCCCTGGCTAAGAACTGTGAGGCCTGCTCACCAGGTGGGTCTCGCAGTGCCGGCACCCGGCCAGGGCAGTCAGGAGAGAGGGGAGGACTTGGGGTCCTGCCCCCCCGGTCTCCAAGGCTGGGGTGCTGCTGGCTCTCACGCACCCACAGAAAGGCCAGGGCGAGGCAGCTGGAGCCCCCAAGGACCCCCTTTTTGAAGACCCTTTGGAGCCGGCTCCCTGGCCCCACCGTGAGCCAGGCCCTCCCTCTGGAGGCCAAGACCAGAGGGCTGGACGTCCACTCTGGCTCCAGTTTGGTTCCCAGGCCCCACCCGCTCCTCGGCTGCAGGCGAAGGTCTCCACCTCGGGGCTGGCTTCCATGGAAAGAGCCCTCAGATCCCAGAAGGTACAGGGAGAAGACGCCAACCAATAGCTCTGTATTTGGGCGCCCCTGAGGTGGGGAACAGGAAAGCCCGCCGGGCAGGTCAGGTGTGAAGGCAGAGGCCACGCACAGCGGCCGGCCACACCCGCCTGTAGCTGCCCGGAAACCCCACCGGGACCCAAGGCCGCAGGTCCTCACCAAACAGGCCCGCCCTTTGCGCAGGTCCTCAGGGAACAGGCCTGCCCTTTGTGCCTCCCCTGGGCTCGGCTGAGACAACCCCCCGCCTGTTGCCACGCTGGCAACACCCCGTCATCACTCCCGCCCCTCCTCACACCGGGCTGATGTCGGCCGCGGCCCTGAGCAGAGTGGACAGGGCAGCCTTGCTCCTGCACGCTGCTCCTGGAGCCACAGGGCCCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTGACTCTCCCTCCGCAATGTAGGGCCTGACTTTGGCACAAGGCGCCACGGCCGCGTAGCAGCTGTTGAGAGCATCCAGGTTCTCCTTGGACTGGGAGATGCTGAAGCCGCTGAAGGAACGCTCCAGCTCCTCGTGGTCCACGGACGGGATGGAGATGGACGTGTCGCTGTCCCGCAGGTTCCCCTCGGGGGGCCTGCAGCCCGGGGTGTCCTCCTGCCGCAGGAACTCCATGCTGGCGCGGTTGCCCCCGCCGTAGGCGGACAGCGACCGCTCGTGGGCAGGCGGCGGCGGGATGCGCACCAGGGAGCCGTGGTCCCCCACGGGGGAGGTGCCGTGGCCCTGGCGCGGGTGGCTCTGTGGCTGCCAGGAGGTGGAGGGCGGACACTGGACGGGGCGCGGCCGGGGGCGCCGAGAAGTTCTTCTGGCCCGTGGAGCTGCTGGAGCGCACGATCTTGACAATGCAGCCGTGCCTGTCGACATGCTCCCGGCTGTCTTCCGGGCTGTGGTACGGCGGCGCCGGCTCCGGCTCTTTGGCCCCAAAGTAGGCCTCGGTCTCTGTCGGGGGGATGCCCATCCGCTGCATGTAGATATTCACCAGGAAGTCCAGCTTCTTCTCCATGGACAAGACCTGCAAAAGGGGCTGCTGGGCTGGGGTGCGAGGGCCCGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAATGGGGGACCCAGGCTAGTCCCAGGAAATGGGGGGGACCCAGGCTGGTCCTAGGAGATGGGGGGACCTGGACCACTCCCAGGAAGTCGGTCGACTTGGGCTGGTCCCAGGAGGTGGGGGGACCTGGGTTGCTCCCTGGAGAGGTACAGGGAGGGGGGATCCCTGCTCCCTGGAAGCTGGAGGAGCGGGAAGAGGAGGCCCAGGAGCAGCTCTTCCTCCTTCCCAGACCCCTAGGGGCAAAGCCTCCAGCTCCACGGTTGGGGCGTGTGTTCAGAGCCAGGCCCTCCTGCTGCCCACCGTGGAACCCCCTTCAGGAAAGCCCCACAGGGCAGGACCTGGCAGTTCCTTACTCACTGCTCAGGCCCGGCTCTCAGAAGCAGGCCCCAAAACAAGGGTCCTCTGCGGTGGTTCCTGAGAATGCACCCCCAGAAGACAGCGGCCAGGGTGTCGGGCAAGGAGGACAGAGAGGAGGAAGGCCAGGCAGGTACAACTTCCGGCACGTTCCACAAGGAACCCCTGAGGGATCCACCTCTCAGCAGCCCCCACCCAGGACTCCTGGGGACTTTGGCCCTTGGGTACTGTCAGGAGGGAAGGCACCCAGGCCGGGGGTGGGAGGCTCACGGTGGGGTGTGAGGGGTCTGCACAGAGCAGCTGTCAGTGGTGACAGGGCCATGTAAACCCTAGACTTGAGGAGCCCTCCGTGGCACCCAGCCCCTGAAGCCCACACTGCCACAGGTTGACGGCAGGCACCACAGCCCTCCAGCCCCGCACCCCTCCCGCCCAGCCTCTCGCACCTGCTTCTCCACCTTCCCGAGCCGTCCCATCATGCTGGGGTCCTCGGGCAGCTCCGCCTCGGCCGGGCCCTTGGTGCGGTCCTTGTCCGTGATCGCTGGGCCCCGCCCCACGATCTGGTCCACTCTACCGGGAACAGAGACCCCAAAGCATGAGTTCGGGTGGGTGCAGCAGGGCCCCTGCCCTCTCCTCCTGGACCAGGCCACAGTGCCCCTGGGTCTAGGCTGCAGGCTCAGCCCAGAGCCGACCAGGGGGCAGTGGGTGCCAGGACAGATGGACGGGGTGCGCCCCGTTCTCAGCCCGTCTTCTGGCACCGTGAGGTTCTGCTCCTGCCCGCTCTGTCCCCAAGGGGCCTGGCACATTAGCGAGGAGTAAAGTAAGGACGCTCCCACCAGGGCCGAGTCGCCCGGCTCCTCTCCGTGGGCTCCCGGCTCCATACCGCCCCCTCCAGCCAGCCCCACCTGCTCACCCTCTTCCCTGCCCAAGGCCTATTGGCCCCACAGCCCACGGAGGGTCTCCCACTGCAGGGCCTGGAGCCCACTCCAGAGGATGCCCCTCCCCCTACCCGTGCCCACCCCGGAGCTTTACTCCTACGTAATGTGCCACTGAAGCCGTCGGCCCCACCGGGTCTGATGGGGACGGAGTTAAATGTCTGCGGCGGGGACAACAGAAGCAGAAAAGGCGTGAGAGCTGCGGCTCCATGCACCAGGACAAGGAGAGAAGGCCCAGAGCAGCACAGGAACCAACGCACAAACCAGAAGAGGGGAGACAANN
|
pathogenic
| 316,091 |
Variant at chromosome position 63407136, chromosome 20, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Epileptic_encephalopathy', 'KCNQ2-related_disorder']
|
CAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGACGGTGCACCCGAGGCCCGAGACCCCAAGAGGCCCCGCTAAGGAATCGGTCAGTGGAGAAGGGGCCATCAGCTCCAGGGGGCAGGAGAGCTAGGGAGGGCGCACAGCTGGGCTGAGGTGGGAGTGGTTTCCTCCGGAAAGGCGGGGAGGGCGGCCCTGTGCTGACGGTGGAGGCTATCCTGGCCCGCTGCATCATGGCCCAGCCCTGCCCCAGGTCTGTCGGGGCACTGGTGGGACACAGGCGAGGTGGGGCCCTGGCTAAGAACTGTGAGGCCTGCTCACCAGGTGGGTCTCGCAGTGCCGGCACCCGGCCAGGGCAGTCAGGAGAGAGGGGAGGACTTGGGGTCCTGCCCCCCCGGTCTCCAAGGCTGGGGTGCTGCTGGCTCTCACGCACCCACAGAAAGGCCAGGGCGAGGCAGCTGGAGCCCCCAAGGACCCCCTTTTTGAAGACCCTTTGGAGCCGGCTCCCTGGCCCCACCGTGAGCCAGGCCCTCCCTCTGGAGGCCAAGACCAGAGGGCTGGACGTCCACTCTGGCTCCAGTTTGGTTCCCAGGCCCCACCCGCTCCTCGGCTGCAGGCGAAGGTCTCCACCTCGGGGCTGGCTTCCATGGAAAGAGCCCTCAGATCCCAGAAGGTACAGGGAGAAGACGCCAACCAATAGCTCTGTATTTGGGCGCCCCTGAGGTGGGGAACAGGAAAGCCCGCCGGGCAGGTCAGGTGTGAAGGCAGAGGCCACGCACAGCGGCCGGCCACACCCGCCTGTAGCTGCCCGGAAACCCCACCGGGACCCAAGGCCGCAGGTCCTCACCAAACAGGCCCGCCCTTTGCGCAGGTCCTCAGGGAACAGGCCTGCCCTTTGTGCCTCCCCTGGGCTCGGCTGAGACAACCCCCCGCCTGTTGCCACGCTGGCAACACCCCGTCATCACTCCCGCCCCTCCTCACACCGGGCTGATGTCGGCCGCGGCCCTGAGCAGAGTGGACAGGGCAGCCTTGCTCCTGCACGCTGCTCCTGGAGCCACAGGGCCCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTGACTCTCCCTCCGCAATGTAGGGCCTGACTTTGGCACAAGGCGCCACGGCCGCGTAGCAGCTGTTGAGAGCATCCAGGTTCTCCTTGGACTGGGAGATGCTGAAGCCGCTGAAGGAACGCTCCAGCTCCTCGTGGTCCACGGACGGGATGGAGATGGACGTGTCGCTGTCCCGCAGGTTCCCCTCGGGGGGCCTGCAGCCCGGGGTGTCCTCCTGCCGCAGGAACTCCATGCTGGCGCGGTTGCCCCCGCCGTAGGCGGACAGCGACCGCTCGTGGGCAGGCGGCGGCGGGATGCGCACCAGGGAGCCGTGGTCCCCCACGGGGGAGGTGCCGTGGCCCTGGCGCGGGTGGCTCTGTGGCTGCCAGGAGGTGGAGGGCGGACACTGGACAGGGGGCGCGGCCGGGGGCGCCGAGAAGTTCTTCTGGCCCGTGGAGCTGCTGGAGCGCACGATCTTGACAATGCAGCCGTGCCTGTCGACATGCTCCCGGCTGTCTTCCGGGCTGTGGTACGGCGGCGCCGGCTCCGGCTCTTTGGCCCCAAAGTAGGCCTCGGTCTCTGTCGGGGGGATGCCCATCCGCTGCATGTAGATATTCACCAGGAAGTCCAGCTTCTTCTCCATGGACAAGACCTGCAAAAGGGGCTGCTGGGCTGGGGTGCGAGGGCCCGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAATGGGGGACCCAGGCTAGTCCCAGGAAATGGGGGGGACCCAGGCTGGTCCTAGGAGATGGGGGGACCTGGACCACTCCCAGGAAGTCGGTCGACTTGGGCTGGTCCCAGGAGGTGGGGGGACCTGGGTTGCTCCCTGGAGAGGTACAGGGAGGGGGGATCCCTGCTCCCTGGAAGCTGGAGGAGCGGGAAGAGGAGGCCCAGGAGCAGCTCTTCCTCCTTCCCAGACCCCTAGGGGCAAAGCCTCCAGCTCCACGGTTGGGGCGTGTGTTCAGAGCCAGGCCCTCCTGCTGCCCACCGTGGAACCCCCTTCAGGAAAGCCCCACAGGGCAGGACCTGGCAGTTCCTTACTCACTGCTCAGGCCCGGCTCTCAGAAGCAGGCCCCAAAACAAGGGTCCTCTGCGGTGGTTCCTGAGAATGCACCCCCAGAAGACAGCGGCCAGGGTGTCGGGCAAGGAGGACAGAGAGGAGGAAGGCCAGGCAGGTACAACTTCCGGCACGTTCCACAAGGAACCCCTGAGGGATCCACCTCTCAGCAGCCCCCACCCAGGACTCCTGGGGACTTTGGCCCTTGGGTACTGTCAGGAGGGAAGGCACCCAGGCCGGGGGTGGGAGGCTCACGGTGGGGTGTGAGGGGTCTGCACAGAGCAGCTGTCAGTGGTGACAGGGCCATGTAAACCCTAGACTTGAGGAGCCCTCCGTGGCACCCAGCCCCTGAAGCCCACACTGCCACAGGTTGACGGCAGGCACCACAGCCCTCCAGCCCCGCACCCCTCCCGCCCAGCCTCTCGCACCTGCTTCTCCACCTTCCCGAGCCGTCCCATCATGCTGGGGTCCTCGGGCAGCTCCGCCTCGGCCGGGCCCTTGGTGCGGTCCTTGTCCGTGATCGCTGGGCCCCGCCCCACGATCTGGTCCACTCTACCGGGAACAGAGACCCCAAAGCATGAGTTCGGGTGGGTGCAGCAGGGCCCCTGCCCTCTCCTCCTGGACCAGGCCACAGTGCCCCTGGGTCTAGGCTGCAGGCTCAGCCCAGAGCCGACCAGGGGGCAGTGGGTGCCAGGACAGATGGACGGGGTGCGCCCCGTTCTCAGCCCGTCTTCTGGCACCGTGAGGTTCTGCTCCTGCCCGCTCTGTCCCCAAGGGGCCTGGCACATTAGCGAGGAGTAAAGTAAGGACGCTCCCACCAGGGCCGAGTCGCCCGGCTCCTCTCCGTGGGCTCCCGGCTCCATACCGCCCCCTCCAGCCAGCCCCACCTGCTCACCCTCTTCCCTGCCCAAGGCCTATTGGCCCCACAGCCCACGGAGGGTCTCCCACTGCAGGGCCTGGAGCCCACTCCAGAGGATGCCCCTCCCCCTACCCGTGCCCACCCCGGAGCTTTACTCCTACGTAATGTGCCACTGAAGCCGTCGGCCCCACCGGGTCTGATGGGGACGGAGTTAAATGTCTGCGGCGGGGACAACAGAAGCAGAAAAGGCGTGAGAGCTGCGGCTCCATGCACCAGGACAAGGAGAGAAGGCCCAGAGCAGCACAGGAACCAACGCACAAACCAGAAGAGGGGAGACAAA
|
CAGGACTGGTTCCCCTGCTGGCCTCAGGGCCTCAGGACCTCCCAGCCAAGCCAAGTGCACTGAAAACGCAGGTGGAGGAGAAACGGGCCCAGGACTCCCCTGCACTTGCTCTGCAGGAGTATTTGCGCCCACGACCCCAGCCCTGCTCACTCCCAGGGAGGCCACTCTCCAGGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGACGGTGCACCCGAGGCCCGAGACCCCAAGAGGCCCCGCTAAGGAATCGGTCAGTGGAGAAGGGGCCATCAGCTCCAGGGGGCAGGAGAGCTAGGGAGGGCGCACAGCTGGGCTGAGGTGGGAGTGGTTTCCTCCGGAAAGGCGGGGAGGGCGGCCCTGTGCTGACGGTGGAGGCTATCCTGGCCCGCTGCATCATGGCCCAGCCCTGCCCCAGGTCTGTCGGGGCACTGGTGGGACACAGGCGAGGTGGGGCCCTGGCTAAGAACTGTGAGGCCTGCTCACCAGGTGGGTCTCGCAGTGCCGGCACCCGGCCAGGGCAGTCAGGAGAGAGGGGAGGACTTGGGGTCCTGCCCCCCCGGTCTCCAAGGCTGGGGTGCTGCTGGCTCTCACGCACCCACAGAAAGGCCAGGGCGAGGCAGCTGGAGCCCCCAAGGACCCCCTTTTTGAAGACCCTTTGGAGCCGGCTCCCTGGCCCCACCGTGAGCCAGGCCCTCCCTCTGGAGGCCAAGACCAGAGGGCTGGACGTCCACTCTGGCTCCAGTTTGGTTCCCAGGCCCCACCCGCTCCTCGGCTGCAGGCGAAGGTCTCCACCTCGGGGCTGGCTTCCATGGAAAGAGCCCTCAGATCCCAGAAGGTACAGGGAGAAGACGCCAACCAATAGCTCTGTATTTGGGCGCCCCTGAGGTGGGGAACAGGAAAGCCCGCCGGGCAGGTCAGGTGTGAAGGCAGAGGCCACGCACAGCGGCCGGCCACACCCGCCTGTAGCTGCCCGGAAACCCCACCGGGACCCAAGGCCGCAGGTCCTCACCAAACAGGCCCGCCCTTTGCGCAGGTCCTCAGGGAACAGGCCTGCCCTTTGTGCCTCCCCTGGGCTCGGCTGAGACAACCCCCCGCCTGTTGCCACGCTGGCAACACCCCGTCATCACTCCCGCCCCTCCTCACACCGGGCTGATGTCGGCCGCGGCCCTGAGCAGAGTGGACAGGGCAGCCTTGCTCCTGCACGCTGCTCCTGGAGCCACAGGGCCCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTGACTCTCCCTCCGCAATGTAGGGCCTGACTTTGGCACAAGGCGCCACGGCCGCGTAGCAGCTGTTGAGAGCATCCAGGTTCTCCTTGGACTGGGAGATGCTGAAGCCGCTGAAGGAACGCTCCAGCTCCTCGTGGTCCACGGACGGGATGGAGATGGACGTGTCGCTGTCCCGCAGGTTCCCCTCGGGGGGCCTGCAGCCCGGGGTGTCCTCCTGCCGCAGGAACTCCATGCTGGCGCGGTTGCCCCCGCCGTAGGCGGACAGCGACCGCTCGTGGGCAGGCGGCGGCGGGATGCGCACCAGGGAGCCGTGGTCCCCCACGGGGGAGGTGCCGTGGCCCTGGCGCGGGTGGCTCTGTGGCTGCCAGGAGGTGGAGGGCGGACACTGGACAGGGGGGCGCGGCCGGGGGCGCCGAGAAGTTCTTCTGGCCCGTGGAGCTGCTGGAGCGCACGATCTTGACAATGCAGCCGTGCCTGTCGACATGCTCCCGGCTGTCTTCCGGGCTGTGGTACGGCGGCGCCGGCTCCGGCTCTTTGGCCCCAAAGTAGGCCTCGGTCTCTGTCGGGGGGATGCCCATCCGCTGCATGTAGATATTCACCAGGAAGTCCAGCTTCTTCTCCATGGACAAGACCTGCAAAAGGGGCTGCTGGGCTGGGGTGCGAGGGCCCGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAATGGGGGACCCAGGCTAGTCCCAGGAAATGGGGGGGACCCAGGCTGGTCCTAGGAGATGGGGGGACCTGGACCACTCCCAGGAAGTCGGTCGACTTGGGCTGGTCCCAGGAGGTGGGGGGACCTGGGTTGCTCCCTGGAGAGGTACAGGGAGGGGGGATCCCTGCTCCCTGGAAGCTGGAGGAGCGGGAAGAGGAGGCCCAGGAGCAGCTCTTCCTCCTTCCCAGACCCCTAGGGGCAAAGCCTCCAGCTCCACGGTTGGGGCGTGTGTTCAGAGCCAGGCCCTCCTGCTGCCCACCGTGGAACCCCCTTCAGGAAAGCCCCACAGGGCAGGACCTGGCAGTTCCTTACTCACTGCTCAGGCCCGGCTCTCAGAAGCAGGCCCCAAAACAAGGGTCCTCTGCGGTGGTTCCTGAGAATGCACCCCCAGAAGACAGCGGCCAGGGTGTCGGGCAAGGAGGACAGAGAGGAGGAAGGCCAGGCAGGTACAACTTCCGGCACGTTCCACAAGGAACCCCTGAGGGATCCACCTCTCAGCAGCCCCCACCCAGGACTCCTGGGGACTTTGGCCCTTGGGTACTGTCAGGAGGGAAGGCACCCAGGCCGGGGGTGGGAGGCTCACGGTGGGGTGTGAGGGGTCTGCACAGAGCAGCTGTCAGTGGTGACAGGGCCATGTAAACCCTAGACTTGAGGAGCCCTCCGTGGCACCCAGCCCCTGAAGCCCACACTGCCACAGGTTGACGGCAGGCACCACAGCCCTCCAGCCCCGCACCCCTCCCGCCCAGCCTCTCGCACCTGCTTCTCCACCTTCCCGAGCCGTCCCATCATGCTGGGGTCCTCGGGCAGCTCCGCCTCGGCCGGGCCCTTGGTGCGGTCCTTGTCCGTGATCGCTGGGCCCCGCCCCACGATCTGGTCCACTCTACCGGGAACAGAGACCCCAAAGCATGAGTTCGGGTGGGTGCAGCAGGGCCCCTGCCCTCTCCTCCTGGACCAGGCCACAGTGCCCCTGGGTCTAGGCTGCAGGCTCAGCCCAGAGCCGACCAGGGGGCAGTGGGTGCCAGGACAGATGGACGGGGTGCGCCCCGTTCTCAGCCCGTCTTCTGGCACCGTGAGGTTCTGCTCCTGCCCGCTCTGTCCCCAAGGGGCCTGGCACATTAGCGAGGAGTAAAGTAAGGACGCTCCCACCAGGGCCGAGTCGCCCGGCTCCTCTCCGTGGGCTCCCGGCTCCATACCGCCCCCTCCAGCCAGCCCCACCTGCTCACCCTCTTCCCTGCCCAAGGCCTATTGGCCCCACAGCCCACGGAGGGTCTCCCACTGCAGGGCCTGGAGCCCACTCCAGAGGATGCCCCTCCCCCTACCCGTGCCCACCCCGGAGCTTTACTCCTACGTAATGTGCCACTGAAGCCGTCGGCCCCACCGGGTCTGATGGGGACGGAGTTAAATGTCTGCGGCGGGGACAACAGAAGCAGAAAAGGCGTGAGAGCTGCGGCTCCATGCACCAGGACAAGGAGAGAAGGCCCAGAGCAGCACAGGAACCAACGCACAAACCAGAAGAGGGGAGACAA
|
pathogenic
| 316,092 |
Mutation found at chromosome 20 position 63407307, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts']
|
GGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGACGGTGCACCCGAGGCCCGAGACCCCAAGAGGCCCCGCTAAGGAATCGGTCAGTGGAGAAGGGGCCATCAGCTCCAGGGGGCAGGAGAGCTAGGGAGGGCGCACAGCTGGGCTGAGGTGGGAGTGGTTTCCTCCGGAAAGGCGGGGAGGGCGGCCCTGTGCTGACGGTGGAGGCTATCCTGGCCCGCTGCATCATGGCCCAGCCCTGCCCCAGGTCTGTCGGGGCACTGGTGGGACACAGGCGAGGTGGGGCCCTGGCTAAGAACTGTGAGGCCTGCTCACCAGGTGGGTCTCGCAGTGCCGGCACCCGGCCAGGGCAGTCAGGAGAGAGGGGAGGACTTGGGGTCCTGCCCCCCCGGTCTCCAAGGCTGGGGTGCTGCTGGCTCTCACGCACCCACAGAAAGGCCAGGGCGAGGCAGCTGGAGCCCCCAAGGACCCCCTTTTTGAAGACCCTTTGGAGCCGGCTCCCTGGCCCCACCGTGAGCCAGGCCCTCCCTCTGGAGGCCAAGACCAGAGGGCTGGACGTCCACTCTGGCTCCAGTTTGGTTCCCAGGCCCCACCCGCTCCTCGGCTGCAGGCGAAGGTCTCCACCTCGGGGCTGGCTTCCATGGAAAGAGCCCTCAGATCCCAGAAGGTACAGGGAGAAGACGCCAACCAATAGCTCTGTATTTGGGCGCCCCTGAGGTGGGGAACAGGAAAGCCCGCCGGGCAGGTCAGGTGTGAAGGCAGAGGCCACGCACAGCGGCCGGCCACACCCGCCTGTAGCTGCCCGGAAACCCCACCGGGACCCAAGGCCGCAGGTCCTCACCAAACAGGCCCGCCCTTTGCGCAGGTCCTCAGGGAACAGGCCTGCCCTTTGTGCCTCCCCTGGGCTCGGCTGAGACAACCCCCCGCCTGTTGCCACGCTGGCAACACCCCGTCATCACTCCCGCCCCTCCTCACACCGGGCTGATGTCGGCCGCGGCCCTGAGCAGAGTGGACAGGGCAGCCTTGCTCCTGCACGCTGCTCCTGGAGCCACAGGGCCCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTGACTCTCCCTCCGCAATGTAGGGCCTGACTTTGGCACAAGGCGCCACGGCCGCGTAGCAGCTGTTGAGAGCATCCAGGTTCTCCTTGGACTGGGAGATGCTGAAGCCGCTGAAGGAACGCTCCAGCTCCTCGTGGTCCACGGACGGGATGGAGATGGACGTGTCGCTGTCCCGCAGGTTCCCCTCGGGGGGCCTGCAGCCCGGGGTGTCCTCCTGCCGCAGGAACTCCATGCTGGCGCGGTTGCCCCCGCCGTAGGCGGACAGCGACCGCTCGTGGGCAGGCGGCGGCGGGATGCGCACCAGGGAGCCGTGGTCCCCCACGGGGGAGGTGCCGTGGCCCTGGCGCGGGTGGCTCTGTGGCTGCCAGGAGGTGGAGGGCGGACACTGGACAGGGGGCGCGGCCGGGGGCGCCGAGAAGTTCTTCTGGCCCGTGGAGCTGCTGGAGCGCACGATCTTGACAATGCAGCCGTGCCTGTCGACATGCTCCCGGCTGTCTTCCGGGCTGTGGTACGGCGGCGCCGGCTCCGGCTCTTTGGCCCCAAAGTAGGCCTCGGTCTCTGTCGGGGGGATGCCCATCCGCTGCATGTAGATATTCACCAGGAAGTCCAGCTTCTTCTCCATGGACAAGACCTGCAAAAGGGGCTGCTGGGCTGGGGTGCGAGGGCCCGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAATGGGGGACCCAGGCTAGTCCCAGGAAATGGGGGGGACCCAGGCTGGTCCTAGGAGATGGGGGGACCTGGACCACTCCCAGGAAGTCGGTCGACTTGGGCTGGTCCCAGGAGGTGGGGGGACCTGGGTTGCTCCCTGGAGAGGTACAGGGAGGGGGGATCCCTGCTCCCTGGAAGCTGGAGGAGCGGGAAGAGGAGGCCCAGGAGCAGCTCTTCCTCCTTCCCAGACCCCTAGGGGCAAAGCCTCCAGCTCCACGGTTGGGGCGTGTGTTCAGAGCCAGGCCCTCCTGCTGCCCACCGTGGAACCCCCTTCAGGAAAGCCCCACAGGGCAGGACCTGGCAGTTCCTTACTCACTGCTCAGGCCCGGCTCTCAGAAGCAGGCCCCAAAACAAGGGTCCTCTGCGGTGGTTCCTGAGAATGCACCCCCAGAAGACAGCGGCCAGGGTGTCGGGCAAGGAGGACAGAGAGGAGGAAGGCCAGGCAGGTACAACTTCCGGCACGTTCCACAAGGAACCCCTGAGGGATCCACCTCTCAGCAGCCCCCACCCAGGACTCCTGGGGACTTTGGCCCTTGGGTACTGTCAGGAGGGAAGGCACCCAGGCCGGGGGTGGGAGGCTCACGGTGGGGTGTGAGGGGTCTGCACAGAGCAGCTGTCAGTGGTGACAGGGCCATGTAAACCCTAGACTTGAGGAGCCCTCCGTGGCACCCAGCCCCTGAAGCCCACACTGCCACAGGTTGACGGCAGGCACCACAGCCCTCCAGCCCCGCACCCCTCCCGCCCAGCCTCTCGCACCTGCTTCTCCACCTTCCCGAGCCGTCCCATCATGCTGGGGTCCTCGGGCAGCTCCGCCTCGGCCGGGCCCTTGGTGCGGTCCTTGTCCGTGATCGCTGGGCCCCGCCCCACGATCTGGTCCACTCTACCGGGAACAGAGACCCCAAAGCATGAGTTCGGGTGGGTGCAGCAGGGCCCCTGCCCTCTCCTCCTGGACCAGGCCACAGTGCCCCTGGGTCTAGGCTGCAGGCTCAGCCCAGAGCCGACCAGGGGGCAGTGGGTGCCAGGACAGATGGACGGGGTGCGCCCCGTTCTCAGCCCGTCTTCTGGCACCGTGAGGTTCTGCTCCTGCCCGCTCTGTCCCCAAGGGGCCTGGCACATTAGCGAGGAGTAAAGTAAGGACGCTCCCACCAGGGCCGAGTCGCCCGGCTCCTCTCCGTGGGCTCCCGGCTCCATACCGCCCCCTCCAGCCAGCCCCACCTGCTCACCCTCTTCCCTGCCCAAGGCCTATTGGCCCCACAGCCCACGGAGGGTCTCCCACTGCAGGGCCTGGAGCCCACTCCAGAGGATGCCCCTCCCCCTACCCGTGCCCACCCCGGAGCTTTACTCCTACGTAATGTGCCACTGAAGCCGTCGGCCCCACCGGGTCTGATGGGGACGGAGTTAAATGTCTGCGGCGGGGACAACAGAAGCAGAAAAGGCGTGAGAGCTGCGGCTCCATGCACCAGGACAAGGAGAGAAGGCCCAGAGCAGCACAGGAACCAACGCACAAACCAGAAGAGGGGAGACAAAGCTGCGAGGGTCTGTGTGTGCACGTGTGTGTGCACTCGATGTGCATGTGTGTGCCCTCATGTGCATTGCACAAGTTTCTGTGTGCACGCGTGTGCATGTGTTCATGTGTGCAAGAGTGTGCACGTTTGCGTGTGTGCATGTGTGTGTGTAGGATGCAGAATTCAGCTGAGC
|
GGGAGCCCAGGCCCGCCTGCGACGCCGTCACGCCAAATGCCAGATGCTCCCGGGGTCTGGTTCTTAAGTCTGGAGCTAGGGACTCGCTCCCGCATTAGAGCCGCCTGCCCCAAGGGCCACGGTGCCCACAACAGGACGGGCATGGGACGGTGCACCCGAGGCCCGAGACCCCAAGAGGCCCCGCTAAGGAATCGGTCAGTGGAGAAGGGGCCATCAGCTCCAGGGGGCAGGAGAGCTAGGGAGGGCGCACAGCTGGGCTGAGGTGGGAGTGGTTTCCTCCGGAAAGGCGGGGAGGGCGGCCCTGTGCTGACGGTGGAGGCTATCCTGGCCCGCTGCATCATGGCCCAGCCCTGCCCCAGGTCTGTCGGGGCACTGGTGGGACACAGGCGAGGTGGGGCCCTGGCTAAGAACTGTGAGGCCTGCTCACCAGGTGGGTCTCGCAGTGCCGGCACCCGGCCAGGGCAGTCAGGAGAGAGGGGAGGACTTGGGGTCCTGCCCCCCCGGTCTCCAAGGCTGGGGTGCTGCTGGCTCTCACGCACCCACAGAAAGGCCAGGGCGAGGCAGCTGGAGCCCCCAAGGACCCCCTTTTTGAAGACCCTTTGGAGCCGGCTCCCTGGCCCCACCGTGAGCCAGGCCCTCCCTCTGGAGGCCAAGACCAGAGGGCTGGACGTCCACTCTGGCTCCAGTTTGGTTCCCAGGCCCCACCCGCTCCTCGGCTGCAGGCGAAGGTCTCCACCTCGGGGCTGGCTTCCATGGAAAGAGCCCTCAGATCCCAGAAGGTACAGGGAGAAGACGCCAACCAATAGCTCTGTATTTGGGCGCCCCTGAGGTGGGGAACAGGAAAGCCCGCCGGGCAGGTCAGGTGTGAAGGCAGAGGCCACGCACAGCGGCCGGCCACACCCGCCTGTAGCTGCCCGGAAACCCCACCGGGACCCAAGGCCGCAGGTCCTCACCAAACAGGCCCGCCCTTTGCGCAGGTCCTCAGGGAACAGGCCTGCCCTTTGTGCCTCCCCTGGGCTCGGCTGAGACAACCCCCCGCCTGTTGCCACGCTGGCAACACCCCGTCATCACTCCCGCCCCTCCTCACACCGGGCTGATGTCGGCCGCGGCCCTGAGCAGAGTGGACAGGGCAGCCTTGCTCCTGCACGCTGCTCCTGGAGCCACAGGGCCCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTGACTCTCCCTCCGCAATGTAGGGCCTGACTTTGGCACAAGGCGCCACGGCCGCGTAGCAGCTGTTGAGAGCATCCAGGTTCTCCTTGGACTGGGAGATGCTGAAGCCGCTGAAGGAACGCTCCAGCTCCTCGTGGTCCACGGACGGGATGGAGATGGACGTGTCGCTGTCCCGCAGGTTCCCCTCGGGGGGCCTGCAGCCCGGGGTGTCCTCCTGCCGCAGGAACTCCATGCTGGCGCGGTTGCCCCCGCCGTAGGCGGACAGCGACCGCTCGTGGGCAGGCGGCGGCGGGATGCGCACCAGGGAGCCGTGGTCCCCCACGGGGGAGGTGCCGTGGCCCTGGCGCGGGTGGCTCTGTGGCTGCCAGGAGGTGGAGGGCGGACACTGGACAGGGGGCGCGGCCGGGGGCGCCGAGAAGTTCTTCTGGCCCGTGGAGCTGCTGGAGCGCACGATCTTGACAATGCAGCCGTGCCTGTCGACATGCTCCCGGCTGTCTTCCGGGCTGTGGTACGGCGGCGCCGGCTCCGGCTCTTTGGCCCCAAAGTAGGCCTCGGTCTCTGTCGGGGGATGCCCATCCGCTGCATGTAGATATTCACCAGGAAGTCCAGCTTCTTCTCCATGGACAAGACCTGCAAAAGGGGCTGCTGGGCTGGGGTGCGAGGGCCCGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAATGGGGGACCCAGGCTAGTCCCAGGAAATGGGGGGGACCCAGGCTGGTCCTAGGAGATGGGGGGACCTGGACCACTCCCAGGAAGTCGGTCGACTTGGGCTGGTCCCAGGAGGTGGGGGGACCTGGGTTGCTCCCTGGAGAGGTACAGGGAGGGGGGATCCCTGCTCCCTGGAAGCTGGAGGAGCGGGAAGAGGAGGCCCAGGAGCAGCTCTTCCTCCTTCCCAGACCCCTAGGGGCAAAGCCTCCAGCTCCACGGTTGGGGCGTGTGTTCAGAGCCAGGCCCTCCTGCTGCCCACCGTGGAACCCCCTTCAGGAAAGCCCCACAGGGCAGGACCTGGCAGTTCCTTACTCACTGCTCAGGCCCGGCTCTCAGAAGCAGGCCCCAAAACAAGGGTCCTCTGCGGTGGTTCCTGAGAATGCACCCCCAGAAGACAGCGGCCAGGGTGTCGGGCAAGGAGGACAGAGAGGAGGAAGGCCAGGCAGGTACAACTTCCGGCACGTTCCACAAGGAACCCCTGAGGGATCCACCTCTCAGCAGCCCCCACCCAGGACTCCTGGGGACTTTGGCCCTTGGGTACTGTCAGGAGGGAAGGCACCCAGGCCGGGGGTGGGAGGCTCACGGTGGGGTGTGAGGGGTCTGCACAGAGCAGCTGTCAGTGGTGACAGGGCCATGTAAACCCTAGACTTGAGGAGCCCTCCGTGGCACCCAGCCCCTGAAGCCCACACTGCCACAGGTTGACGGCAGGCACCACAGCCCTCCAGCCCCGCACCCCTCCCGCCCAGCCTCTCGCACCTGCTTCTCCACCTTCCCGAGCCGTCCCATCATGCTGGGGTCCTCGGGCAGCTCCGCCTCGGCCGGGCCCTTGGTGCGGTCCTTGTCCGTGATCGCTGGGCCCCGCCCCACGATCTGGTCCACTCTACCGGGAACAGAGACCCCAAAGCATGAGTTCGGGTGGGTGCAGCAGGGCCCCTGCCCTCTCCTCCTGGACCAGGCCACAGTGCCCCTGGGTCTAGGCTGCAGGCTCAGCCCAGAGCCGACCAGGGGGCAGTGGGTGCCAGGACAGATGGACGGGGTGCGCCCCGTTCTCAGCCCGTCTTCTGGCACCGTGAGGTTCTGCTCCTGCCCGCTCTGTCCCCAAGGGGCCTGGCACATTAGCGAGGAGTAAAGTAAGGACGCTCCCACCAGGGCCGAGTCGCCCGGCTCCTCTCCGTGGGCTCCCGGCTCCATACCGCCCCCTCCAGCCAGCCCCACCTGCTCACCCTCTTCCCTGCCCAAGGCCTATTGGCCCCACAGCCCACGGAGGGTCTCCCACTGCAGGGCCTGGAGCCCACTCCAGAGGATGCCCCTCCCCCTACCCGTGCCCACCCCGGAGCTTTACTCCTACGTAATGTGCCACTGAAGCCGTCGGCCCCACCGGGTCTGATGGGGACGGAGTTAAATGTCTGCGGCGGGGACAACAGAAGCAGAAAAGGCGTGAGAGCTGCGGCTCCATGCACCAGGACAAGGAGAGAAGGCCCAGAGCAGCACAGGAACCAACGCACAAACCAGAAGAGGGGAGACAAAGCTGCGAGGGTCTGTGTGTGCACGTGTGTGTGCACTCGATGTGCATGTGTGTGCCCTCATGTGCATTGCACAAGTTTCTGTGTGCACGCGTGTGCATGTGTTCATGTGTGCAAGAGTGTGCACGTTTGCGTGTGTGCATGTGTGTGTGTAGGATGCAGAATTCAGCTGAGCN
|
pathogenic
| 316,106 |
Does the variant impacting KCNQ2 (potassium voltage-gated channel subfamily Q member 2) on chromosome 20, position 63408476, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Inborn_genetic_diseases']
|
CCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTGACTCTCCCTCCGCAATGTAGGGCCTGACTTTGGCACAAGGCGCCACGGCCGCGTAGCAGCTGTTGAGAGCATCCAGGTTCTCCTTGGACTGGGAGATGCTGAAGCCGCTGAAGGAACGCTCCAGCTCCTCGTGGTCCACGGACGGGATGGAGATGGACGTGTCGCTGTCCCGCAGGTTCCCCTCGGGGGGCCTGCAGCCCGGGGTGTCCTCCTGCCGCAGGAACTCCATGCTGGCGCGGTTGCCCCCGCCGTAGGCGGACAGCGACCGCTCGTGGGCAGGCGGCGGCGGGATGCGCACCAGGGAGCCGTGGTCCCCCACGGGGGAGGTGCCGTGGCCCTGGCGCGGGTGGCTCTGTGGCTGCCAGGAGGTGGAGGGCGGACACTGGACAGGGGGCGCGGCCGGGGGCGCCGAGAAGTTCTTCTGGCCCGTGGAGCTGCTGGAGCGCACGATCTTGACAATGCAGCCGTGCCTGTCGACATGCTCCCGGCTGTCTTCCGGGCTGTGGTACGGCGGCGCCGGCTCCGGCTCTTTGGCCCCAAAGTAGGCCTCGGTCTCTGTCGGGGGGATGCCCATCCGCTGCATGTAGATATTCACCAGGAAGTCCAGCTTCTTCTCCATGGACAAGACCTGCAAAAGGGGCTGCTGGGCTGGGGTGCGAGGGCCCGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAATGGGGGACCCAGGCTAGTCCCAGGAAATGGGGGGGACCCAGGCTGGTCCTAGGAGATGGGGGGACCTGGACCACTCCCAGGAAGTCGGTCGACTTGGGCTGGTCCCAGGAGGTGGGGGGACCTGGGTTGCTCCCTGGAGAGGTACAGGGAGGGGGGATCCCTGCTCCCTGGAAGCTGGAGGAGCGGGAAGAGGAGGCCCAGGAGCAGCTCTTCCTCCTTCCCAGACCCCTAGGGGCAAAGCCTCCAGCTCCACGGTTGGGGCGTGTGTTCAGAGCCAGGCCCTCCTGCTGCCCACCGTGGAACCCCCTTCAGGAAAGCCCCACAGGGCAGGACCTGGCAGTTCCTTACTCACTGCTCAGGCCCGGCTCTCAGAAGCAGGCCCCAAAACAAGGGTCCTCTGCGGTGGTTCCTGAGAATGCACCCCCAGAAGACAGCGGCCAGGGTGTCGGGCAAGGAGGACAGAGAGGAGGAAGGCCAGGCAGGTACAACTTCCGGCACGTTCCACAAGGAACCCCTGAGGGATCCACCTCTCAGCAGCCCCCACCCAGGACTCCTGGGGACTTTGGCCCTTGGGTACTGTCAGGAGGGAAGGCACCCAGGCCGGGGGTGGGAGGCTCACGGTGGGGTGTGAGGGGTCTGCACAGAGCAGCTGTCAGTGGTGACAGGGCCATGTAAACCCTAGACTTGAGGAGCCCTCCGTGGCACCCAGCCCCTGAAGCCCACACTGCCACAGGTTGACGGCAGGCACCACAGCCCTCCAGCCCCGCACCCCTCCCGCCCAGCCTCTCGCACCTGCTTCTCCACCTTCCCGAGCCGTCCCATCATGCTGGGGTCCTCGGGCAGCTCCGCCTCGGCCGGGCCCTTGGTGCGGTCCTTGTCCGTGATCGCTGGGCCCCGCCCCACGATCTGGTCCACTCTACCGGGAACAGAGACCCCAAAGCATGAGTTCGGGTGGGTGCAGCAGGGCCCCTGCCCTCTCCTCCTGGACCAGGCCACAGTGCCCCTGGGTCTAGGCTGCAGGCTCAGCCCAGAGCCGACCAGGGGGCAGTGGGTGCCAGGACAGATGGACGGGGTGCGCCCCGTTCTCAGCCCGTCTTCTGGCACCGTGAGGTTCTGCTCCTGCCCGCTCTGTCCCCAAGGGGCCTGGCACATTAGCGAGGAGTAAAGTAAGGACGCTCCCACCAGGGCCGAGTCGCCCGGCTCCTCTCCGTGGGCTCCCGGCTCCATACCGCCCCCTCCAGCCAGCCCCACCTGCTCACCCTCTTCCCTGCCCAAGGCCTATTGGCCCCACAGCCCACGGAGGGTCTCCCACTGCAGGGCCTGGAGCCCACTCCAGAGGATGCCCCTCCCCCTACCCGTGCCCACCCCGGAGCTTTACTCCTACGTAATGTGCCACTGAAGCCGTCGGCCCCACCGGGTCTGATGGGGACGGAGTTAAATGTCTGCGGCGGGGACAACAGAAGCAGAAAAGGCGTGAGAGCTGCGGCTCCATGCACCAGGACAAGGAGAGAAGGCCCAGAGCAGCACAGGAACCAACGCACAAACCAGAAGAGGGGAGACAAAGCTGCGAGGGTCTGTGTGTGCACGTGTGTGTGCACTCGATGTGCATGTGTGTGCCCTCATGTGCATTGCACAAGTTTCTGTGTGCACGCGTGTGCATGTGTTCATGTGTGCAAGAGTGTGCACGTTTGCGTGTGTGCATGTGTGTGTGTAGGATGCAGAATTCAGCTGAGCTGATCTCCAATGAGGCCACAGGTCACTCATGACAATAAGAAGGGAGGGAGGCTCCTTTGCCCTCAGGGACGGGGGCTTCTGACCAGTCTGGTATCCACAGAGTCACGGCCACTGCTGGGCTGGCAGGGGCCACCACGGTGGGTGTGCGCTGAGGCCTGCAGCTACGTGGGAACTCACTTGGAAACAAAGACCCTGCAGTAAGTCTACAAAAGCCCAGCTGGACAAGGGCAGCTCAAGACGGGGTGTGGCTGAGCAGGACCCACCCAGGAGAGGCCACAAGCTCCCAAGTCTCCCCTGGACTGGGGCCTGGTACATGAAGACTGCCCCACACCAGCCGACGGGGCCAAGTCCTCACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGTGGGGGAGGGACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGGGGCGGGACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGGGGCGGGACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGGGGCGGGACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGGGGCGGGACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGGAGGGGGGAGGGTGGGCCAGGGGTGTTATCTTCTTTCTGTTGCGAGAAACAGAGAGGGTTTCAGGCTCGCGTCGGCCACAGTGCAGCTCCTCATGCTCCGCGGGGCTTCATGCTGGACTCATGCAATAGGGCCAGGAGGGCGGGAGGGGACGGCGGGAGGGGACCCTCTGGCTCCGAGCAGACGCCAGTGGCGATGGAGGAGATGGGAGTCCCTGGTGTTCGGGGCATCCACACAGTCCAGGCAGATGCTCAGCACCTTCGCCCCTGCCACATGACGGGCCGCCCGCCTGCTCAGTCCCAATAGGAGCCCTGGCCACGGGCTCAGCCTGGAGCTGCTGCTGGGGGCTCCTCCAAGGACCCTGTGCCCCTCCTGCCCTGGGCCCCTGGCTGGAGGAGACTTGATCCCTGAGTGCTCAGTGCCCCGTGAGGTGGGGCAAGCGCTCCAACTGTCTCCCTGGCCCCCTGTGTGAACCTGCACGTCTCCTAGCCACAAGACCGTCCGAGCTCACAGCTGTGGATGCCCAGCTGCTGTCTCTTGCGGCAAGGCACA
|
CCTGCCCAGCCCTCCAGCCCCTGTTGGAAAATAACTTTTGTAAAAGGTCACTGCCAGGAGCCCCCATCCTTCAGCCCACATGGGCCCCTCCAGGGCCCACCCTTCCCGCCACACTCAGTTACTGTAAGAAAAGGGCCCCAGAGGGTTCCCGCCTCAAAACCTCGGAGGCACCGTGCTGAGGAGGGCCGCGGGCGGGTCCACTGGCCCAGCGCCGCCTCACTTCCTGGGCCCGGCCCAGCCCACGTCACCAAAGGGACCCTCGCCGGTGGCCGAGCGTGGCGGGGGCCCGCACGGGGTACAGAGGTCGGAGTCGGTGTCTGACTCTCCCTCCGCAATGTAGGGCCTGACTTTGGCACAAGGCGCCACGGCCGCGTAGCAGCTGTTGAGAGCATCCAGGTTCTCCTTGGACTGGGAGATGCTGAAGCCGCTGAAGGAACGCTCCAGCTCCTCGTGGTCCACGGACGGGATGGAGATGGACGTGTCGCTGTCCCGCAGGTTCCCCTCGGGGGGCCTGCAGCCCGGGGTGTCCTCCTGCCGCAGGAACTCCATGCTGGCGCGGTTGCCCCCGCCGTAGGCGGACAGCGACCGCTCGTGGGCAGGCGGCGGCGGGATGCGCACCAGGGAGCCGTGGTCCCCCACGGGGGAGGTGCCGTGGCCCTGGCGCGGGTGGCTCTGTGGCTGCCAGGAGGTGGAGGGCGGACACTGGACAGGGGGCGCGGCCGGGGGCGCCGAGAAGTTCTTCTGGCCCGTGGAGCTGCTGGAGCGCACGATCTTGACAATGCAGCCGTGCCTGTCGACATGCTCCCGGCTGTCTTCCGGGCTGTGGTACGGCGGCGCCGGCTCCGGCTCTTTGGCCCCAAAGTAGGCCTCGGTCTCTGTCGGGGGGATGCCCATCCGCTGCATGTAGATATTCACCAGGAAGTCCAGCTTCTTCTCCATGGACAAGACCTGCAAAAGGGGCTGCTGGGCTGGGGTGCGAGGGCCCGTCCCAGGAGATGTGGGGACCCAGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAACGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCAGGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCTAGTCCCAGGAAATGGGGGACCCAGGCTAGTCCCAGGAAATGGGGGGGACCCAGGCTGGTCCTAGGAGATGGGGGGACCTGGACCACTCCCAGGAAGTCGGTCGACTTGGGCTGGTCCCAGGAGGTGGGGGGACCTGGGTTGCTCCCTGGAGAGGTACAGGGAGGGGGGATCCCTGCTCCCTGGAAGCTGGAGGAGCGGGAAGAGGAGGCCCAGGAGCAGCTCTTCCTCCTTCCCAGACCCCTAGGGGCAAAGCCTCCAGCTCCACGGTTGGGGCGTGTGTTCAGAGCCAGGCCCTCCTGCTGCCCACCGTGGAACCCCCTTCAGGAAAGCCCCACAGGGCAGGACCTGGCAGTTCCTTACTCACTGCTCAGGCCCGGCTCTCAGAAGCAGGCCCCAAAACAAGGGTCCTCTGCGGTGGTTCCTGAGAATGCACCCCCAGAAGACAGCGGCCAGGGTGTCGGGCAAGGAGGACAGAGAGGAGGAAGGCCAGGCAGGTACAACTTCCGGCACGTTCCACAAGGAACCCCTGAGGGATCCACCTCTCAGCAGCCCCCACCCAGGACTCCTGGGGACTTTGGCCCTTGGGTACTGTCAGGAGGGAAGGCACCCAGGCCGGGGGTGGGAGGCTCACGGTGGGGTGTGAGGGGTCTGCACAGAGCAGCTGTCAGTGGTGACAGGGCCATGTAAACCCTAGACTTGAGGAGCCCTCCGTGGCACCCAGCCCCTGAAGCCCACACTGCCACAGGTTGACGGCAGGCACCACAGCCCTCCAGCCCCGCACCCCTCCCGCCCAGCCTCTCGCACCTGCTTCTCCACCTTCCCGAGCCGTCCCATCATGCTGGGGTCCTCGGGCAGCTCCGCCTCGGCCGGCCCTTGGTGCGGTCCTTGTCCGTGATCGCTGGGCCCCGCCCCACGATCTGGTCCACTCTACCGGGAACAGAGACCCCAAAGCATGAGTTCGGGTGGGTGCAGCAGGGCCCCTGCCCTCTCCTCCTGGACCAGGCCACAGTGCCCCTGGGTCTAGGCTGCAGGCTCAGCCCAGAGCCGACCAGGGGGCAGTGGGTGCCAGGACAGATGGACGGGGTGCGCCCCGTTCTCAGCCCGTCTTCTGGCACCGTGAGGTTCTGCTCCTGCCCGCTCTGTCCCCAAGGGGCCTGGCACATTAGCGAGGAGTAAAGTAAGGACGCTCCCACCAGGGCCGAGTCGCCCGGCTCCTCTCCGTGGGCTCCCGGCTCCATACCGCCCCCTCCAGCCAGCCCCACCTGCTCACCCTCTTCCCTGCCCAAGGCCTATTGGCCCCACAGCCCACGGAGGGTCTCCCACTGCAGGGCCTGGAGCCCACTCCAGAGGATGCCCCTCCCCCTACCCGTGCCCACCCCGGAGCTTTACTCCTACGTAATGTGCCACTGAAGCCGTCGGCCCCACCGGGTCTGATGGGGACGGAGTTAAATGTCTGCGGCGGGGACAACAGAAGCAGAAAAGGCGTGAGAGCTGCGGCTCCATGCACCAGGACAAGGAGAGAAGGCCCAGAGCAGCACAGGAACCAACGCACAAACCAGAAGAGGGGAGACAAAGCTGCGAGGGTCTGTGTGTGCACGTGTGTGTGCACTCGATGTGCATGTGTGTGCCCTCATGTGCATTGCACAAGTTTCTGTGTGCACGCGTGTGCATGTGTTCATGTGTGCAAGAGTGTGCACGTTTGCGTGTGTGCATGTGTGTGTGTAGGATGCAGAATTCAGCTGAGCTGATCTCCAATGAGGCCACAGGTCACTCATGACAATAAGAAGGGAGGGAGGCTCCTTTGCCCTCAGGGACGGGGGCTTCTGACCAGTCTGGTATCCACAGAGTCACGGCCACTGCTGGGCTGGCAGGGGCCACCACGGTGGGTGTGCGCTGAGGCCTGCAGCTACGTGGGAACTCACTTGGAAACAAAGACCCTGCAGTAAGTCTACAAAAGCCCAGCTGGACAAGGGCAGCTCAAGACGGGGTGTGGCTGAGCAGGACCCACCCAGGAGAGGCCACAAGCTCCCAAGTCTCCCCTGGACTGGGGCCTGGTACATGAAGACTGCCCCACACCAGCCGACGGGGCCAAGTCCTCACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGTGGGGGAGGGACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGGGGCGGGACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGGGGCGGGACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGGGGCGGGACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGGGGCGGGACTTCCTGCCACTGGGCTGCCCTACCTGCCTCTGATGGGAGGGGGGAGGGTGGGCCAGGGGTGTTATCTTCTTTCTGTTGCGAGAAACAGAGAGGGTTTCAGGCTCGCGTCGGCCACAGTGCAGCTCCTCATGCTCCGCGGGGCTTCATGCTGGACTCATGCAATAGGGCCAGGAGGGCGGGAGGGGACGGCGGGAGGGGACCCTCTGGCTCCGAGCAGACGCCAGTGGCGATGGAGGAGATGGGAGTCCCTGGTGTTCGGGGCATCCACACAGTCCAGGCAGATGCTCAGCACCTTCGCCCCTGCCACATGACGGGCCGCCCGCCTGCTCAGTCCCAATAGGAGCCCTGGCCACGGGCTCAGCCTGGAGCTGCTGCTGGGGGCTCCTCCAAGGACCCTGTGCCCCTCCTGCCCTGGGCCCCTGGCTGGAGGAGACTTGATCCCTGAGTGCTCAGTGCCCCGTGAGGTGGGGCAAGCGCTCCAACTGTCTCCCTGGCCCCCTGTGTGAACCTGCACGTCTCCTAGCCACAAGACCGTCCGAGCTCACAGCTGTGGATGCCCAGCTGCTGTCTCTTGCGGCAAGGCACAN
|
pathogenic
| 316,121 |
A genetic alteration at chromosome 20, position 63413512, in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts']
|
GGAGGTGCTGCCCGGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGG
|
GGAGGTGCTGCCCGGGGGCCTCCCAACCCCAGAGGGAAATCTCACAGGGCATCCACAGAGCCCCCGGCTTCCCCAGGGCACTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGNNNNNNNNN
|
pathogenic
| 316,136 |
For chromosome 20, position 63413592, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
benign
|
CTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTCAGGCGTGGCCAGAGGTTGGCCATGTGGGGAGAGTTG
|
CTTGTCGAGAGGAGCAGTGGGGCCCCTGGCAGTCCTGATAGGGGCACAGCCTGCCTGGGGCCCTGGTGGAGGAAGGGCCTTCTCCCTCTTGTGGCTTTTTCAGGAACAGAGAAAACCCGAGTGTCCCCTCTGTCCCGGGGAAAGGGTGGTACAAGGTGCTGCCGTCATGTGGCCTGGAGCGAAGGGGCCGGCCATTCCACAGACACGTCGGAGAGGCGCTGGCATCCTAACCTAGGTGAGTACTGGGGTGACTCTCTCGGAGGGGCCGTGGGTCCTTTGGTGGGGTACTTCTTGTGCCGGGGAGTTGAAGGGGGCGGGGGACCCACAATCATATCTATCCTGGCAGAGTAAACAAGAAAAGAGACACCGGCGAAACGCATCGTAAAGCCACAGGAAATGAGGAGCTGGCCAGGAACTGGCGGAAACGGAAGCAACAGGGAGGCTCCGTCGAAACAGGTGCTCTCCCACAGAGGGTGTGGACGCCGCCTCGCTGGACCTTGGATTTGCCAAGTCCTTCCCGTGTTTCAAGCAAAGCTTTTGACTCGGGAGCGGGTGGCGGGCGGCCCCACTGCGGAGACCCGGGTGCCACGTCCCAGAGCGTGGAGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTCAGGCGTGGCCAGAGGTTGGCCATGTGGGGAGAGTT
|
benign
| 316,150 |
Is the genetic variant on chromosome 20, position 63414195, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
benign
|
AGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTCAGGCGTGGCCAGAGGTTGGCCATGTGGGGAGAGTTGATGTCTGTGGACTCTTAAATCACTTTCCGCTACCACCACGAGGTGCCGGAGCCTTCCTCACACTGTCCTGCCAGCCCCTCACCCAGTGACACTCAGGGCAACGGGCATCCCAAACACCGGGGCTGTGGCTCTTCCTCGGGCACCTCTGTCTGCCCCGGCCCCGCCCGTGGTTTCCCCTGTGGCCTTTTCACACCCGTAACTGCTCCCAGGAAGCAGCCTCCCTCCTCCCCTCCCACGGCCTGTCCCTCTCCTTCTGCCCCAGAGTCGAGGGGCCAGGGGACAACAAGGACATTGGGGGCCAAGTCTGCGGTGGACCCTTGTTCAGCCACACTCCGGCCTTTCCACCCACCCCGGGGGCCTGCCTGGTGGGATGGGCTTCAGGAGGGCTCAGGCCTCCCCTGTCAGGCTCCCCTCCCACCAGGTCCGTGTCAGAGAACTGCTCCTTCCGGCTTCTGGAAGGAAGGAATGGATAACGGGGCTCCTCCGCCAGCTGGGCCTCACTATCCAAGTCCTGCCCCAGGGCAGGGGGAGGCAGCCTCCAAAGCCACAGCGCTGTGGCCCGGCCCCCTCGGCCTGCGAGGCGTGAAGCAGGATTTGCAGCTG
|
AGTGCAGGGGAGGTGCCCGCAGCAGGAGCCGGTACCAGACAGGCCGCGGCGGGGCAACGGGAAACGCATTGTCAGGAGCCGGCCGAGGACTCCTGGGGTCCTTGGGGTGTTTGCTTTGTTTTGTTTGTTTTTCCAGAGAGAGAGGGAAGGAAAGGGAAAATTTAGGACAAGAGATCCTGGTGAACAAAAACAGCTGAAGTGAGAGAGATGTGGAGACAAAGCACAGAAGTCAAGACAGGAGGGCGTTCCGCACACACACGCACACGCACACGCAGCCAGGGTTGGCCGCTGCTCCAGAGAGGACGCTGGGAAAGAGGCCTCACAGCTGGAGCCCAGCGGGGTGAAGGGGATGGCTCAGTGGCCCCTGCACAGCAGGAGTGGGCTAAGGCCTGGAGGCGCCCCTTCCCTGGCCCCCTGAAGCAGGACTGGGCAGGAGCCCCAGGGTGGGGCTCTCGACTTCCTCAGATGAGAGCTTCACTCCCACTGGAGGGCCCGGAGTTGGGCTGTGACCCCCAGGCTGTCCCTGACCATCCCAGCCTTCTCCCTGTAACAGGGGCCCAGCCTCGCTTCCAGGGCTGAGAAACTGGTACAGCCTTGGTTGGGGGGCCTGGGAGAGGGAGGGGACCCTGATAGGCAGGAGCATGTCCCCTACTGCAGGAGAGACTCTCAACAGCCGTGTGTCCCCATTACAGGCAACATAAACACCCACTCGTGTGTATATCCTTGTTTGTATGTGCCTGAGGCTGCACATGTGTGGGCACGTGTGTGGACTTAGGGGACACCTATGCCAAGGAGGGCAGGTAGAAGAAAAGGTGCCAAGTAGCATAACTGATGCCTGGTGGGGCCCACGGGAACCCTGCAGCTTCATGTCTGAACAGAATTATTCCATCCCCAACACACATGCACACATGTGTACACACATGTATGCACCCCACACACGTGCATACATGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTCAGGCGTGGCCAGAGGTTGGCCATGTGGGGAGAGTTGATGTCTGTGGACTCTTAAATCACTTTCCGCTACCACCACGAGGTGCCGGAGCCTTCCTCACACTGTCCTGCCAGCCCCTCACCCAGTGACACTCAGGGCAACGGGCATCCCAAACACCGGGGCTGTGGCTCTTCCTCGGGCACCTCTGTCTGCCCCGGCCCCGCCCGTGGTTTCCCCTGTGGCCTTTTCACACCCGTAACTGCTCCCAGGAAGCAGCCTCCCTCCTCCCCTCCCACGGCCTGTCCCTCTCCTTCTGCCCCAGAGTCGAGGGGCCAGGGGACAACAAGGACATTGGGGGCCAAGTCTGCGGTGGACCCTTGTTCAGCCACACTCCGGCCTTTCCACCCACCCCGGGGGCCTGCCTGGTGGGATGGGCTTCAGGAGGGCTCAGGCCTCCCCTGTCAGGCTCCCCTCCCACCAGGTCCGTGTCAGAGAACTGCTCCTTCCGGCTTCTGGAAGGAAGGAATGGATAACGGGGCTCCTCCGCCAGCTGGGCCTCACTATCCAAGTCCTGCCCCAGGGCAGGGGGAGGCAGCCTCCAAAGCCACAGCGCTGTGGCCCGGCCCCCTCGGCCTGCGAGGCGTGAAGCAGGATTTGCAGCT
|
benign
| 316,159 |
Does the variant on chromosome 20 at location 63415143 affecting gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
benign
|
TGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTCAGGCGTGGCCAGAGGTTGGCCATGTGGGGAGAGTTGATGTCTGTGGACTCTTAAATCACTTTCCGCTACCACCACGAGGTGCCGGAGCCTTCCTCACACTGTCCTGCCAGCCCCTCACCCAGTGACACTCAGGGCAACGGGCATCCCAAACACCGGGGCTGTGGCTCTTCCTCGGGCACCTCTGTCTGCCCCGGCCCCGCCCGTGGTTTCCCCTGTGGCCTTTTCACACCCGTAACTGCTCCCAGGAAGCAGCCTCCCTCCTCCCCTCCCACGGCCTGTCCCTCTCCTTCTGCCCCAGAGTCGAGGGGCCAGGGGACAACAAGGACATTGGGGGCCAAGTCTGCGGTGGACCCTTGTTCAGCCACACTCCGGCCTTTCCACCCACCCCGGGGGCCTGCCTGGTGGGATGGGCTTCAGGAGGGCTCAGGCCTCCCCTGTCAGGCTCCCCTCCCACCAGGTCCGTGTCAGAGAACTGCTCCTTCCGGCTTCTGGAAGGAAGGAATGGATAACGGGGCTCCTCCGCCAGCTGGGCCTCACTATCCAAGTCCTGCCCCAGGGCAGGGGGAGGCAGCCTCCAAAGCCACAGCGCTGTGGCCCGGCCCCCTCGGCCTGCGAGGCGTGAAGCAGGATTTGCAGCTGTGTCTGGCTGGGTCTCCAGCTCCATACTCTCGGGGGGTCCTTGGGCCTGCCTTGCCCCCGAGTTTTTTGGTGACCGTGGAGATGGGTTTGCACCCGAGTTCTTCAACTCCAGCGTCCGCCGGGCGACAGTGAGGGGAGGGGAGGGTTCACTGTGGTTGGTGGTTGGGAGACGCCAGGCAGATGTGGCCTCCTGAGGTCTGGAAAGCATCAGAACCCCCTGGCTCCCTTGAGGACAGTGGGGCTCTCACGAACTGGGGACCCGCTCATGCCCAGCCATGCTTAGCAGCCACGGAACTTCTCAGGGTGGTTCTGGGCAGGGCCCAGAGCACTGTTGCTGGAGCCTGAAACAAGCCTTCGGGTGGGGAGGCCCCGCAGATCCCTGACACACTTCAGAGAGGAAGCCCAGTGCCTCACGGGCTCCCTGATCCCACGGCGGCTCCCCAGCCAACAGCGAGGGACTGAGGCCCCGGTCAGCAGCCACCATCAGCCCCGACTCCAGACCCACAGCCAGAGAGACACGCCCACCAGACGGCACAGAGATAACCAGCCACAGACATGAGAGCCCACCGCGCCCGTCTGCCTGGCCTGGACACGCGGATCGCTTGGCTGCCCCTCCCCACCCCATCCCCCAGGCAGCAGGTGACCGCCCAGACCATCTGTGCCCACTCAGCAGACCATCTGTCCCCACTCAGGCGTCTCTGAGAGAAAGAAAGAAGCCCCTGGGTGTTGTGCCCGCTCGGGGAAGCAGAGACGGAGTGGCCGAGATCCCCCGAGTCCCGAGGCGTCGCGTGCTTGGGGACGTCAGGAGCCGATGGTACAGGCTCGCTCAGGACCCCAGTCCTGAGTCCACACCCCTGCACTGCCTGAGGCCAACACACCGTGCCCATGGGGGCCAGGGGTGCTCAGAGTCCTGGTGCTGTGGGTGCCTCTGTCCCAACGGCCTCTGGT
|
TGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCAACAGACAGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTCAGGCGTGGCCAGAGGTTGGCCATGTGGGGAGAGTTGATGTCTGTGGACTCTTAAATCACTTTCCGCTACCACCACGAGGTGCCGGAGCCTTCCTCACACTGTCCTGCCAGCCCCTCACCCAGTGACACTCAGGGCAACGGGCATCCCAAACACCGGGGCTGTGGCTCTTCCTCGGGCACCTCTGTCTGCCCCGGCCCCGCCCGTGGTTTCCCCTGTGGCCTTTTCACACCCGTAACTGCTCCCAGGAAGCAGCCTCCCTCCTCCCCTCCCACGGCCTGTCCCTCTCCTTCTGCCCCAGAGTCGAGGGGCCAGGGGACAACAAGGACATTGGGGGCCAAGTCTGCGGTGGACCCTTGTTCAGCCACACTCCGGCCTTTCCACCCACCCCGGGGGCCTGCCTGGTGGGATGGGCTTCAGGAGGGCTCAGGCCTCCCCTGTCAGGCTCCCCTCCCACCAGGTCCGTGTCAGAGAACTGCTCCTTCCGGCTTCTGGAAGGAAGGAATGGATAACGGGGCTCCTCCGCCAGCTGGGCCTCACTATCCAAGTCCTGCCCCAGGGCAGGGGGAGGCAGCCTCCAAAGCCACAGCGCTGTGGCCCGGCCCCCTCGGCCTGCGAGGCGTGAAGCAGGATTTGCAGCTGTGTCTGGCTGGGTCTCCAGCTCCATACTCTCGGGGGGTCCTTGGGCCTGCCTTGCCCCCGAGTTTTTTGGTGACCGTGGAGATGGGTTTGCACCCGAGTTCTTCAACTCCAGCGTCCGCCGGGCGACAGTGAGGGGAGGGGAGGGTTCACTGTGGTTGGTGGTTGGGAGACGCCAGGCAGATGTGGCCTCCTGAGGTCTGGAAAGCATCAGAACCCCCTGGCTCCCTTGAGGACAGTGGGGCTCTCACGAACTGGGGACCCGCTCATGCCCAGCCATGCTTAGCAGCCACGGAACTTCTCAGGGTGGTTCTGGGCAGGGCCCAGAGCACTGTTGCTGGAGCCTGAAACAAGCCTTCGGGTGGGGAGGCCCCGCAGATCCCTGACACACTTCAGAGAGGAAGCCCAGTGCCTCACGGGCTCCCTGATCCCACGGCGGCTCCCCAGCCAACAGCGAGGGACTGAGGCCCCGGTCAGCAGCCACCATCAGCCCCGACTCCAGACCCACAGCCAGAGAGACACGCCCACCAGACGGCACAGAGATAACCAGCCACAGACATGAGAGCCCACCGCGCCCGTCTGCCTGGCCTGGACACGCGGATCGCTTGGCTGCCCCTCCCCACCCCATCCCCCAGGCAGCAGGTGACCGCCCAGACCATCTGTGCCCACTCAGCAGACCATCTGTCCCCACTCAGGCGTCTCTGAGAGAAAGAAAGAAGCCCCTGGGTGTTGTGCCCGCTCGGGGAAGCAGAGACGGAGTGGCCGAGATCCCCCGAGTCCCGAGGCGTCGCGTGCTTGGGGACGTCAGGAGCCGATGGTACAGGCTCGCTCAGGACCCCAGTCCTGAGTCCACACCCCTGCACTGCCTGAGGCCAACACACCGTGCCCATGGGGGCCAGGGGTGCTCAGAGTCCTGGTGCTGTGGGTGCCTCTGTCCCAACGG
|
benign
| 316,179 |
Determine if the mutation at chromosome 20, position 63415143 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
benign
|
TGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTCAGGCGTGGCCAGAGGTTGGCCATGTGGGGAGAGTTGATGTCTGTGGACTCTTAAATCACTTTCCGCTACCACCACGAGGTGCCGGAGCCTTCCTCACACTGTCCTGCCAGCCCCTCACCCAGTGACACTCAGGGCAACGGGCATCCCAAACACCGGGGCTGTGGCTCTTCCTCGGGCACCTCTGTCTGCCCCGGCCCCGCCCGTGGTTTCCCCTGTGGCCTTTTCACACCCGTAACTGCTCCCAGGAAGCAGCCTCCCTCCTCCCCTCCCACGGCCTGTCCCTCTCCTTCTGCCCCAGAGTCGAGGGGCCAGGGGACAACAAGGACATTGGGGGCCAAGTCTGCGGTGGACCCTTGTTCAGCCACACTCCGGCCTTTCCACCCACCCCGGGGGCCTGCCTGGTGGGATGGGCTTCAGGAGGGCTCAGGCCTCCCCTGTCAGGCTCCCCTCCCACCAGGTCCGTGTCAGAGAACTGCTCCTTCCGGCTTCTGGAAGGAAGGAATGGATAACGGGGCTCCTCCGCCAGCTGGGCCTCACTATCCAAGTCCTGCCCCAGGGCAGGGGGAGGCAGCCTCCAAAGCCACAGCGCTGTGGCCCGGCCCCCTCGGCCTGCGAGGCGTGAAGCAGGATTTGCAGCTGTGTCTGGCTGGGTCTCCAGCTCCATACTCTCGGGGGGTCCTTGGGCCTGCCTTGCCCCCGAGTTTTTTGGTGACCGTGGAGATGGGTTTGCACCCGAGTTCTTCAACTCCAGCGTCCGCCGGGCGACAGTGAGGGGAGGGGAGGGTTCACTGTGGTTGGTGGTTGGGAGACGCCAGGCAGATGTGGCCTCCTGAGGTCTGGAAAGCATCAGAACCCCCTGGCTCCCTTGAGGACAGTGGGGCTCTCACGAACTGGGGACCCGCTCATGCCCAGCCATGCTTAGCAGCCACGGAACTTCTCAGGGTGGTTCTGGGCAGGGCCCAGAGCACTGTTGCTGGAGCCTGAAACAAGCCTTCGGGTGGGGAGGCCCCGCAGATCCCTGACACACTTCAGAGAGGAAGCCCAGTGCCTCACGGGCTCCCTGATCCCACGGCGGCTCCCCAGCCAACAGCGAGGGACTGAGGCCCCGGTCAGCAGCCACCATCAGCCCCGACTCCAGACCCACAGCCAGAGAGACACGCCCACCAGACGGCACAGAGATAACCAGCCACAGACATGAGAGCCCACCGCGCCCGTCTGCCTGGCCTGGACACGCGGATCGCTTGGCTGCCCCTCCCCACCCCATCCCCCAGGCAGCAGGTGACCGCCCAGACCATCTGTGCCCACTCAGCAGACCATCTGTCCCCACTCAGGCGTCTCTGAGAGAAAGAAAGAAGCCCCTGGGTGTTGTGCCCGCTCGGGGAAGCAGAGACGGAGTGGCCGAGATCCCCCGAGTCCCGAGGCGTCGCGTGCTTGGGGACGTCAGGAGCCGATGGTACAGGCTCGCTCAGGACCCCAGTCCTGAGTCCACACCCCTGCACTGCCTGAGGCCAACACACCGTGCCCATGGGGGCCAGGGGTGCTCAGAGTCCTGGTGCTGTGGGTGCCTCTGTCCCAACGGCCTCTGGT
|
TGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTCAGGCGTGGCCAGAGGTTGGCCATGTGGGGAGAGTTGATGTCTGTGGACTCTTAAATCACTTTCCGCTACCACCACGAGGTGCCGGAGCCTTCCTCACACTGTCCTGCCAGCCCCTCACCCAGTGACACTCAGGGCAACGGGCATCCCAAACACCGGGGCTGTGGCTCTTCCTCGGGCACCTCTGTCTGCCCCGGCCCCGCCCGTGGTTTCCCCTGTGGCCTTTTCACACCCGTAACTGCTCCCAGGAAGCAGCCTCCCTCCTCCCCTCCCACGGCCTGTCCCTCTCCTTCTGCCCCAGAGTCGAGGGGCCAGGGGACAACAAGGACATTGGGGGCCAAGTCTGCGGTGGACCCTTGTTCAGCCACACTCCGGCCTTTCCACCCACCCCGGGGGCCTGCCTGGTGGGATGGGCTTCAGGAGGGCTCAGGCCTCCCCTGTCAGGCTCCCCTCCCACCAGGTCCGTGTCAGAGAACTGCTCCTTCCGGCTTCTGGAAGGAAGGAATGGATAACGGGGCTCCTCCGCCAGCTGGGCCTCACTATCCAAGTCCTGCCCCAGGGCAGGGGGAGGCAGCCTCCAAAGCCACAGCGCTGTGGCCCGGCCCCCTCGGCCTGCGAGGCGTGAAGCAGGATTTGCAGCTGTGTCTGGCTGGGTCTCCAGCTCCATACTCTCGGGGGGTCCTTGGGCCTGCCTTGCCCCCGAGTTTTTTGGTGACCGTGGAGATGGGTTTGCACCCGAGTTCTTCAACTCCAGCGTCCGCCGGGCGACAGTGAGGGGAGGGGAGGGTTCACTGTGGTTGGTGGTTGGGAGACGCCAGGCAGATGTGGCCTCCTGAGGTCTGGAAAGCATCAGAACCCCCTGGCTCCCTTGAGGACAGTGGGGCTCTCACGAACTGGGGACCCGCTCATGCCCAGCCATGCTTAGCAGCCACGGAACTTCTCAGGGTGGTTCTGGGCAGGGCCCAGAGCACTGTTGCTGGAGCCTGAAACAAGCCTTCGGGTGGGGAGGCCCCGCAGATCCCTGACACACTTCAGAGAGGAAGCCCAGTGCCTCACGGGCTCCCTGATCCCACGGCGGCTCCCCAGCCAACAGCGAGGGACTGAGGCCCCGGTCAGCAGCCACCATCAGCCCCGACTCCAGACCCACAGCCAGAGAGACACGCCCACCAGACGGCACAGAGATAACCAGCCACAGACATGAGAGCCCACCGCGCCCGTCTGCCTGGCCTGGACACGCGGATCGCTTGGCTGCCCCTCCCCACCCCATCCCCCAGGCAGCAGGTGACCGCCCAGACCATCTGTGCCCACTCAGCAGACCATCTGTCCCCACTCAGGCGTCTCTGAGAGAAAGAAAGAAGCCCCTGGGTGTTGTGCCCGCTCGGGGAAGCAGAGACGGAGTGGCCGAGATCCCCCGAGTCCCGAGGCGTCGCGTGCTTGGGGACGTCAGGAGCCGATGGTACAGGCTCGCTCAGGACCCCAGTCCTGAGTCCACACCCCTGCACTGCCTGAGGCCAACACACCGTGCCCATGGGGGCCAGGGGTGCTCAGAGTCCTGGTGCTGTGGGTGCCTCTGTCCCAACGG
|
benign
| 316,180 |
Variant at chromosome position 63415143, chromosome 20, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
benign
|
TGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTCAGGCGTGGCCAGAGGTTGGCCATGTGGGGAGAGTTGATGTCTGTGGACTCTTAAATCACTTTCCGCTACCACCACGAGGTGCCGGAGCCTTCCTCACACTGTCCTGCCAGCCCCTCACCCAGTGACACTCAGGGCAACGGGCATCCCAAACACCGGGGCTGTGGCTCTTCCTCGGGCACCTCTGTCTGCCCCGGCCCCGCCCGTGGTTTCCCCTGTGGCCTTTTCACACCCGTAACTGCTCCCAGGAAGCAGCCTCCCTCCTCCCCTCCCACGGCCTGTCCCTCTCCTTCTGCCCCAGAGTCGAGGGGCCAGGGGACAACAAGGACATTGGGGGCCAAGTCTGCGGTGGACCCTTGTTCAGCCACACTCCGGCCTTTCCACCCACCCCGGGGGCCTGCCTGGTGGGATGGGCTTCAGGAGGGCTCAGGCCTCCCCTGTCAGGCTCCCCTCCCACCAGGTCCGTGTCAGAGAACTGCTCCTTCCGGCTTCTGGAAGGAAGGAATGGATAACGGGGCTCCTCCGCCAGCTGGGCCTCACTATCCAAGTCCTGCCCCAGGGCAGGGGGAGGCAGCCTCCAAAGCCACAGCGCTGTGGCCCGGCCCCCTCGGCCTGCGAGGCGTGAAGCAGGATTTGCAGCTGTGTCTGGCTGGGTCTCCAGCTCCATACTCTCGGGGGGTCCTTGGGCCTGCCTTGCCCCCGAGTTTTTTGGTGACCGTGGAGATGGGTTTGCACCCGAGTTCTTCAACTCCAGCGTCCGCCGGGCGACAGTGAGGGGAGGGGAGGGTTCACTGTGGTTGGTGGTTGGGAGACGCCAGGCAGATGTGGCCTCCTGAGGTCTGGAAAGCATCAGAACCCCCTGGCTCCCTTGAGGACAGTGGGGCTCTCACGAACTGGGGACCCGCTCATGCCCAGCCATGCTTAGCAGCCACGGAACTTCTCAGGGTGGTTCTGGGCAGGGCCCAGAGCACTGTTGCTGGAGCCTGAAACAAGCCTTCGGGTGGGGAGGCCCCGCAGATCCCTGACACACTTCAGAGAGGAAGCCCAGTGCCTCACGGGCTCCCTGATCCCACGGCGGCTCCCCAGCCAACAGCGAGGGACTGAGGCCCCGGTCAGCAGCCACCATCAGCCCCGACTCCAGACCCACAGCCAGAGAGACACGCCCACCAGACGGCACAGAGATAACCAGCCACAGACATGAGAGCCCACCGCGCCCGTCTGCCTGGCCTGGACACGCGGATCGCTTGGCTGCCCCTCCCCACCCCATCCCCCAGGCAGCAGGTGACCGCCCAGACCATCTGTGCCCACTCAGCAGACCATCTGTCCCCACTCAGGCGTCTCTGAGAGAAAGAAAGAAGCCCCTGGGTGTTGTGCCCGCTCGGGGAAGCAGAGACGGAGTGGCCGAGATCCCCCGAGTCCCGAGGCGTCGCGTGCTTGGGGACGTCAGGAGCCGATGGTACAGGCTCGCTCAGGACCCCAGTCCTGAGTCCACACCCCTGCACTGCCTGAGGCCAACACACCGTGCCCATGGGGGCCAGGGGTGCTCAGAGTCCTGGTGCTGTGGGTGCCTCTGTCCCAACGGCCTCTGGT
|
TGGCAGAGCAGAGCCACACGTGCATACAACCACACACATACACCTGTGCAGAAGCATACATGTGTGCATGCGTGACTTACACACACACACATGCACACACACATTTTCAGGGACCCACACACACAGGTGCACGCACTTGCCCACCGCGGTGTGGATGGGGGAGAGATGGGAGAGACAGCAGAAATATTAAAACAGACTTTGTGAAGACACAACAGAAGCTGACAGAGGCCGACGTGGGTGGGGAGGAGGCCCCGCCCACACACCCCCTGCACTCCCACCATGGGCCACAGTGGGCTTTGTCCCAGAAGCCCACCCCGTTCTTGTCCCCTGCTGGACAGGCAGGCGGGGCTCTTGCCTGGACTGCAGGCTCTTAATTCGGGACAGCATGTCCAGGTGGCCGGCTGAGTACTGCTCGATGACGTCCATCACGTCGTAGGGCCGCAGGCTCTCCTTGAACTTCCGCTTGGACACCAGGAACCGCATGACACTGCAGGGGGGTGGGTGGGGCTGTGAGCCCTGGGCCAGAGACCCCCGGCCACAGGCACCAGGACCTTCCTAGCACCTCTGAGACCTCGGCGCCTGGAGATGGCTGGACTTGCCCCTCTTGTCTGCCGCCCACCAGCTCCACACACAGAAGGGCCTTTATGTGGCCCTGCTCTGCCCGGGACAGGTGGGGCTTGCAGGCCTGGCCATGCCCCCTTGGACTCCATGCCACAGCAGGCAGAAGGTGGCTGAGTTGCTTCCTAAGCCAGGTGGAGCCCGGCCTCAGGCCTCTTGCTGAACCGGCATCCCACCCGAAACCCGCCTGAGTCCCAGAGGAGTGCACTCCAGGACATTCAGCCAGGTCCACCCGTGTCTTAGCCCTTTCTTTTCCCAGTAGACTCTGTCTCTGGGCGGCTCTGTCCAGCACCATGAGCACCGGCAGCAGGCAGGACCACCGAGCGGGAGGCCCCTCCTCACTCCCCCAGGCTCCCGGCTGGGCAGGGGCCTCACCACACGGCTCTGATGCTGACTTTGAGGCCCGGGGTCAGGTCCTCGGTCACAAACTCGCAGGGGCAGCTCTTGTCATCCACAATGTCCTCTCCGGGGAGGCTTGCTTCTGGGGGGAAGGAGACAGGCCGTGAGGGGCCGAGGGGGCCGGGAGACCTATTCCCGGGGTCCTGCAGGGCACACCGGCTAGACAGAGCGCCAGGGAGCCCCTCGAGGCTCCCTGTGGTGCCCCTCGGGTGCACCTGCTTTTCTGGAAACCCACCCATCTGCACCCAGCTGCTCTCGAGTCAGGACCTTCCCCGGCAGGCTGTGGCCACAGGGAGTGGCCGATATGGGGCGTCAAAGGACATTCTGGCCAATGGATGAACAGAACATGGCGCATCCACGCACAGATGTTAACGGCGGAAGGTGCAGGCCTGACATCTGAGGCTCAGTGAAGGAAGCCAGACCCAACGGCCCCACGTGGGAGCCGCAGACACGCACGGCCCAAGAGCAGCGGGTGCTGGGGCTGAGGCGGGGAATGGGGTGACTACTGATGGGGTCATGGTTTCCTTCTGTGGTGATGAGAATGTTCTGGAACTAGGCTGAGGTGGTGGTGACAACTCCACCGTGAGCGTGCTACATGCCACTGAATTCCTACACTTTTAAATAGTTAATTTTAGGTTGCACAAGTCTCACCTCAATTTTAGAAAGGATAGGGGGTTCCCACTCCAAGAGCAAGCAAAAGCAGCTGCGACGCCACAGGGTGGCCACAGTAGCGTGGCCACCACATCCATCCCCGGAGAGGATGGACCAGGAGAGGATGCGGCCACACCCACCTTCTGAGTTCTGCCGTGACGCGGCACCCTTGATGCGGAAAGCCTGGCGTGCCCGGCTGCGGTCCCCGAAGCTCCAGCTCTTGGGCACCTTGCTGGGGCTGTCCTCGAGGCTCTGGTCGGCGCTGGGTGACCGCCTCACAGTCTGGGCCTGCGGGGACCCCTTCCCCTTGGCAGCCACGCCTCGGGGGCTGGAGAAGACACGATCTTTCAAACTGACCTTCTGGCTGCTCCCACGGGAACCGAGAGACAGACAGACAGACAGAAAAACAGGGAGAGAAGTCACTCTGCAAAGAACACAGGCCGTGTCTGCTCATGGCCGACGCCGCCCATGCGCCGGAGGGAGACACAGGTCTGAAGAACAGCCAGCCACACGGGTGGCTCAGAGCAGGTGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGTGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGGGGGAGGCTACCGGGGCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGACCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACAGACACTGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTCAGGCGTGGCCAGAGGTTGGCCATGTGGGGAGAGTTGATGTCTGTGGACTCTTAAATCACTTTCCGCTACCACCACGAGGTGCCGGAGCCTTCCTCACACTGTCCTGCCAGCCCCTCACCCAGTGACACTCAGGGCAACGGGCATCCCAAACACCGGGGCTGTGGCTCTTCCTCGGGCACCTCTGTCTGCCCCGGCCCCGCCCGTGGTTTCCCCTGTGGCCTTTTCACACCCGTAACTGCTCCCAGGAAGCAGCCTCCCTCCTCCCCTCCCACGGCCTGTCCCTCTCCTTCTGCCCCAGAGTCGAGGGGCCAGGGGACAACAAGGACATTGGGGGCCAAGTCTGCGGTGGACCCTTGTTCAGCCACACTCCGGCCTTTCCACCCACCCCGGGGGCCTGCCTGGTGGGATGGGCTTCAGGAGGGCTCAGGCCTCCCCTGTCAGGCTCCCCTCCCACCAGGTCCGTGTCAGAGAACTGCTCCTTCCGGCTTCTGGAAGGAAGGAATGGATAACGGGGCTCCTCCGCCAGCTGGGCCTCACTATCCAAGTCCTGCCCCAGGGCAGGGGGAGGCAGCCTCCAAAGCCACAGCGCTGTGGCCCGGCCCCCTCGGCCTGCGAGGCGTGAAGCAGGATTTGCAGCTGTGTCTGGCTGGGTCTCCAGCTCCATACTCTCGGGGGGTCCTTGGGCCTGCCTTGCCCCCGAGTTTTTTGGTGACCGTGGAGATGGGTTTGCACCCGAGTTCTTCAACTCCAGCGTCCGCCGGGCGACAGTGAGGGGAGGGGAGGGTTCACTGTGGTTGGTGGTTGGGAGACGCCAGGCAGATGTGGCCTCCTGAGGTCTGGAAAGCATCAGAACCCCCTGGCTCCCTTGAGGACAGTGGGGCTCTCACGAACTGGGGACCCGCTCATGCCCAGCCATGCTTAGCAGCCACGGAACTTCTCAGGGTGGTTCTGGGCAGGGCCCAGAGCACTGTTGCTGGAGCCTGAAACAAGCCTTCGGGTGGGGAGGCCCCGCAGATCCCTGACACACTTCAGAGAGGAAGCCCAGTGCCTCACGGGCTCCCTGATCCCACGGCGGCTCCCCAGCCAACAGCGAGGGACTGAGGCCCCGGTCAGCAGCCACCATCAGCCCCGACTCCAGACCCACAGCCAGAGAGACACGCCCACCAGACGGCACAGAGATAACCAGCCACAGACATGAGAGCCCACCGCGCCCGTCTGCCTGGCCTGGACACGCGGATCGCTTGGCTGCCCCTCCCCACCCCATCCCCCAGGCAGCAGGTGACCGCCCAGACCATCTGTGCCCACTCAGCAGACCATCTGTCCCCACTCAGGCGTCTCTGAGAGAAAGAAAGAAGCCCCTGGGTGTTGTGCCCGCTCGGGGAAGCAGAGACGGAGTGGCCGAGATCCCCCGAGTCCCGAGGCGTCGCGTGCTTGGGGACGTCAGGAGCCGATGGTACAGGCTCGCTCAGGACCCCAGTCCTGAGTCCACACCCCTGCACTGCCTGAGGCCAACACACCGTGCCCATGGGGGCCAGGGGTGCTCAGAGTCCTGGTGCTGTGGGTGCCTCTGTCCCAACGG
|
benign
| 316,181 |
Is chromosome 20, position 63419645, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
|
pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts']
|
ATCAGATTCCCACCTGCGGCCCCGGAGGGGAACGGGTCAAATACCCAGGCGGCCACACAGACGTGCGGGCCAGGAAGGGTCAGGCCCCACAGTCCGCAGGGAGTTGCAGGAAGGGAGTGGCGTGGATTCCACAGGCCCCAGGAGAGAAGACCCAGCCCCGACGTCTGCTTCCCATTTTTCAGGGGGGACCCCCCGCTGACCACGACAAGGAGCCACAGCCCCGCCAGCGGCAGACACACCCTGCTGGACCCGATGCCCAGCACAGCCCCAGGGGCCGCCGGGACGCAGCCCACGTGTACTGCCCCAGACAGAGCCGGCGGGAAGGAGCCTGCCCTGGCCTCGGCGCGGCCCTGCTGTCCCGGGTCTCGGGCTCCGCTCCCACCTCAGATCTGCGAGGGAGGCTCTGCCAGGAAGAGGAGGGTGGCGCGACCTGGACATGTCCTTCCCTCCCCTGGACCTCCACCATGACCCAAACTCTGCACCCTCCAAGCACAGCTGGTGAGGCTCCATGCTGCAGACACCCGACCCCGCCAGCCTGCCTCAGCTGCCAGGAGCACGCGTGGTCTCGCAGGCCCTCCCTCGGCCACAAGCCAAGAACAAGCGCACGCGAAAAGCTGCCGCCACCCACCTGGGAGGAGCCCTCGGCCAGAGCTGCCCTCTGTGTGCGAGGGGCGTCCGTGGCACCTACGCTTGGGGCTTACGGGGCCGGGGCAGGCTCAAGAAGCACCTGAGAGCGCGCCATCCCCACCCGGCCTGCCACCCTCCCTCCCAATGGTGAAATTCAGATGTGCGGTGCCCGCAGGAAACAGGAGGCTGAGGAGCATCCAGACCCCTGCCCAGCTGGTGTCCGGACCAACGACGCCCAGGAAGCGTGAGGATGAAGGGGCCTCCCGTGGGGGCTGCTCGCAGCAGGACAGGGCCTGCCCTGGGTTGTTCTCTGGCCTGGGCTCCCACCCCCACTTTCAAACCCCTCTGGTCCCCAAGCAGCCTGACCTCAGCCCCTGCCCTGAGGGACCAGCCTGCGGCCAGAAGCACCCTGAATAGATGCTCCGGACACGCAGGACAGCTGCTAGCGCCCCAGCAGGCCATGCCCCAGGCAGCCCACACGCCCGTCTCCCTCTCTGGAGCTGCCAACAGTCTCCCCGCAAGCACCAACGCCCCCAGAAGCACACAAGCAGCAAAGTCACAGGGAGAGGGTGGCATGGAGTCGCGGGCCCCCCATGGAGCAGGGTCCGAAGCATGCACGGATGCAGATAGGCAGCATGCAGCCCCACCAGCCCTCCAAGGCCAGCACCACCGGCGGCATGCACATGCCAAGGAGAGCCCCACAGGAGCACGACACAGCCACCTCCACCTTGCTGGGCTGTGCTGGCCAGGAGGGAGGGGCCCCCAGCGCAGGCCTGCACACACCCAACAGCAGACAGGGGACGCGGGGACAGGGGAGGTGCGGGTCACGGTGCAGGCCAGGAGCCCACGGTGCAAAGGGGGCGGCTCCTCCCCCGTCCTATTTCCACCTGCCCTAAACCAGGCCTGTTGTTGGGAGAGGGAGCCGCGGGCCTCTGGCTTTCTGGGGCTTCTGATGCATCAGGACCCTGAGGAGCCCGGCACACACAGACGGAGCTGCCTCCCGCGGTCGAGGCAGCCAGGAAGGCTCAGTCATCCTCAGGTACGCAGCAGAGGTGCTAGAGTGACAGCCCCAGGGGAAACGCTCCCTGAAGAGCAGTCGGGGACCCCAGGAGGCACGGACGCCTTGCTGGGTTCAGAGCCCCTGGCTGGCCCCTCTGGCTGTGCGCAGGACATCGCCTGGCGTGGGGAGCAAGAAGAAGCACCTTCCCCCAGCTCCGCCCTGCACGCAGCTGTCGGCTAGAATAGAGGGAGCTGAGCCCGCACCGCCAGGGCGGTGGGTCAGAATTGGGGTTGGGGCGCCAGCCTCCCCCTGGCTCCTCCAGAACCTCTAGTAAGCAGGGAGGGGCAGAGGAGCCGTGCAGCAGCCGTCAGTCCGTGCGGCGTGTTCCGCGGTACCTAGAGCGTCCGGGGCAGCATCCACACAGGGGCCCTCTGCACGGGCTGCCTTTACTGGAAATGAGGAGAGCACAGTTAGTCCTGGGCGCCGGCAACAGCACACGGCCGGGAGCAGGGAAACTGAGGCACTGCAACCACCCAGGGTGTTGTGTGCAGTCCCCAGCGGCAGAGCTTGCGCCCAAGCAAGGCCAGCGAGGAAGGTGCACCATCGTCTCCACCGTCCGGAGAAGAAAACACTTCCCTATTTCTGAAGGAAAAAAATCCCTGTTTTTTTTTTCCTCCAAAAATACCTTTTCCTTCCAAAGCCACAGTTTGGGTTCATGTCTTAAAAGATGTATTATTTTTTGCAGTATTCATGCTGACAAAACAATAATACATGTGGCCTCAGACGCCGCAGAAGCCCTGCTTGGGAAGGACGTGACCCCGGGAAAGGGCGTGGGTGTGAAGCACACACATTTGAGAGAGGAAAACGTGCAGTTGTCCCGCTTTGCAAACCAATCGGCGACGTTTGGCCATGCCAGCCAGTCCCCCAGTTGGAGGTGGGTCTCGGTTTACCCAGGAGGCGTGGCTGCCACTGCAGGCATGGCTATCTGGGGGTTCAAGGGCTCCCCTGAGGACAGTCACGTTGGGGCTCAGTGGATCCCCTCATTGTGAAGCCCTTCAGGAGCGCAGCTCCCCGCCGGGGCGTTCCTTAGAAAAGGCTCAGAAAACACGGAACGTTTTCCCAAGAATCTCCCCAAAAACCCTGGCGATTTAGCTCTGCATCACAATGTGCAAATGATTAAGCAAAAAATGAAACCAATCACCAAGAACTCAAGAACTCTTCCTTTTCCCCACCCCAGCCACCCCCAACCTCCTTGCCACTGCTTCCTGAGACAGCACTTCTCAAACTCGGTGCCCCAGGAACCCCAGCGTGGCGACGGCATCCACTCAGAACACACAGGCTCTAGGAAGAAAGCACCCAGCCTCCCGTCTTCCTGCGCACACGTGTGTTTAGACACCGATGTCCCTGCACGCACCCGCAGGCAGCTCTCCGAGCGGCGTCACAGACACGGCTAGCTCCAGTCACGGCAGCACTCAGCCGCCCGGGTAGGCTGAGGGCTCTGGACCCTTCCCCAAGCCCCACCAGCCTGCAAGACTCCAAGGGCGGGTGGCCGGCTTCCACCCCAGCCCCCGTGCCGGTCCGGCTTTTTAGTACACAAGCGACTTTGGGGTCCCCAGGCACGAAGGGATGTAGTGCAAAGGCTGGACTCTGTTTGCTGGTTAACCACGAACGCGACGGTGGGACGAGGCAGGAGGGAGCCGGCTCCCTGCGCCTGGCTTGAGGTTCTGGCTGCTCAGAGTCTCTCCCGCTGTGACCACCCCAGCTACGATGACACCCAGGCCTTCCTGGCAGGCAAAGACCTCAGACTCCCACCAGCACCACCCAGGCCCAAGCACAGAGCCCCTGCCTGGAGGGCCCCAGGAGACCTTCCCCACCCCAGGGAAAGAGCATGAAGGAGGCAGGGTCCCGCTTCCCCAAACCTCCCAAGGTCTCCTGTTTTGACCCCAGCATGATCGCCTTGACCAAGAGGCCCCTCCCGGGCCGGCCCTGCCGCCCGATTCTGCAATGGGATCGTCCTGTAGCCACACTGAAGCTCCGGCTGTCGCCACCAGGCACCTGAGACTCGAGAGTGAATCTCTAACCGTGCCCGTTATAATCCATGTTATTTTAACAGCCACATGTGGCTGGCAGCTCCTGTATGGGGCAACGTGGTCTGAGAGCCGGGGAGAGCTGGCAGGGAGGCGCTGCAGGCACAGCCCCCCAAGACCCCCAAAGCTTTGTGGGGGACCCGTGCAGCTGCACCTCCCCCTGGGGTCCGCAGCTGGCACTGGGCTTCCTTCCTGCCCCATCAGCCACAGGGAGCTCCACACTGCGTGAGAAGGCCCTGTGACCCGAGGTCGGACAGGCGGACAGGCCCACAGTGAGCTCGAGACCCACAGACACTGACCGAGACCCGACAGGACAGACATGCACCAAAAACACGCGGACACGTGTGCTTGAGAAGAGGAGGGGGAGCCCGAACAGGCACGG
|
ATCAGATTCCCACCTGCGGCCCCGGAGGGGAACGGGTCAAATACCCAGGCGGCCACACAGACGTGCGGGCCAGGAAGGGTCAGGCCCCACAGTCCGCAGGGAGTTGCAGGAAGGGAGTGGCGTGGATTCCACAGGCCCCAGGAGAGAAGACCCAGCCCCGACGTCTGCTTCCCATTTTTCAGGGGGGACCCCCCGCTGACCACGACAAGGAGCCACAGCCCCGCCAGCGGCAGACACACCCTGCTGGACCCGATGCCCAGCACAGCCCCAGGGGCCGCCGGGACGCAGCCCACGTGTACTGCCCCAGACAGAGCCGGCGGGAAGGAGCCTGCCCTGGCCTCGGCGCGGCCCTGCTGTCCCGGGTCTCGGGCTCCGCTCCCACCTCAGATCTGCGAGGGAGGCTCTGCCAGGAAGAGGAGGGTGGCGCGACCTGGACATGTCCTTCCCTCCCCTGGACCTCCACCATGACCCAAACTCTGCACCCTCCAAGCACAGCTGGTGAGGCTCCATGCTGCAGACACCCGACCCCGCCAGCCTGCCTCAGCTGCCAGGAGCACGCGTGGTCTCGCAGGCCCTCCCTCGGCCACAAGCCAAGAACAAGCGCACGCGAAAAGCTGCCGCCACCCACCTGGGAGGAGCCCTCGGCCAGAGCTGCCCTCTGTGTGCGAGGGGCGTCCGTGGCACCTACGCTTGGGGCTTACGGGGCCGGGGCAGGCTCAAGAAGCACCTGAGAGCGCGCCATCCCCACCCGGCCTGCCACCCTCCCTCCCAATGGTGAAATTCAGATGTGCGGTGCCCGCAGGAAACAGGAGGCTGAGGAGCATCCAGACCCCTGCCCAGCTGGTGTCCGGACCAACGACGCCCAGGAAGCGTGAGGATGAAGGGGCCTCCCGTGGGGGCTGCTCGCAGCAGGACAGGGCCTGCCCTGGGTTGTTCTCTGGCCTGGGCTCCCACCCCCACTTTCAAACCCCTCTGGTCCCCAAGCAGCCTGACCTCAGCCCCTGCCCTGAGGGACCAGCCTGCGGCCAGAAGCACCCTGAATAGATGCTCCGGACACGCAGGACAGCTGCTAGCGCCCCAGCAGGCCATGCCCCAGGCAGCCCACACGCCCGTCTCCCTCTCTGGAGCTGCCAACAGTCTCCCCGCAAGCACCAACGCCCCCAGAAGCACACAAGCAGCAAAGTCACAGGGAGAGGGTGGCATGGAGTCGCGGGCCCCCCATGGAGCAGGGTCCGAAGCATGCACGGATGCAGATAGGCAGCATGCAGCCCCACCAGCCCTCCAAGGCCAGCACCACCGGCGGCATGCACATGCCAAGGAGAGCCCCACAGGAGCACGACACAGCCACCTCCACCTTGCTGGGCTGTGCTGGCCAGGAGGGAGGGGCCCCCAGCGCAGGCCTGCACACACCCAACAGCAGACAGGGGACGCGGGGACAGGGGAGGTGCGGGTCACGGTGCAGGCCAGGAGCCCACGGTGCAAAGGGGGCGGCTCCTCCCCCGTCCTATTTCCACCTGCCCTAAACCAGGCCTGTTGTTGGGAGAGGGAGCCGCGGGCCTCTGGCTTTCTGGGGCTTCTGATGCATCAGGACCCTGAGGAGCCCGGCACACACAGACGGAGCTGCCTCCCGCGGTCGAGGCAGCCAGGAAGGCTCAGTCATCCTCAGGTACGCAGCAGAGGTGCTAGAGTGACAGCCCCAGGGGAAACGCTCCCTGAAGAGCAGTCGGGGACCCCAGGAGGCACGGACGCCTTGCTGGGTTCAGAGCCCCTGGCTGGCCCCTCTGGCTGTGCGCAGGACATCGCCTGGCGTGGGGAGCAAGAAGAAGCACCTTCCCCCAGCTCCGCCCTGCACGCAGCTGTCGGCTAGAATAGAGGGAGCTGAGCCCGCACCGCCAGGGCGGTGGGTCAGAATTGGGGTTGGGGCGCCAGCCTCCCCCTGGCTCCTCCAGAACCTCTAGTAAGCAGGGAGGGGCAGAGGAGCCGTGCAGCAGCCGTCAGTCCGTGCGGCGTGTTCCGCGGTACCTAGAGCGTCCGGGGCAGCATCCACACGGGCCCTCTGCACGGGCTGCCTTTACTGGAAATGAGGAGAGCACAGTTAGTCCTGGGCGCCGGCAACAGCACACGGCCGGGAGCAGGGAAACTGAGGCACTGCAACCACCCAGGGTGTTGTGTGCAGTCCCCAGCGGCAGAGCTTGCGCCCAAGCAAGGCCAGCGAGGAAGGTGCACCATCGTCTCCACCGTCCGGAGAAGAAAACACTTCCCTATTTCTGAAGGAAAAAAATCCCTGTTTTTTTTTTCCTCCAAAAATACCTTTTCCTTCCAAAGCCACAGTTTGGGTTCATGTCTTAAAAGATGTATTATTTTTTGCAGTATTCATGCTGACAAAACAATAATACATGTGGCCTCAGACGCCGCAGAAGCCCTGCTTGGGAAGGACGTGACCCCGGGAAAGGGCGTGGGTGTGAAGCACACACATTTGAGAGAGGAAAACGTGCAGTTGTCCCGCTTTGCAAACCAATCGGCGACGTTTGGCCATGCCAGCCAGTCCCCCAGTTGGAGGTGGGTCTCGGTTTACCCAGGAGGCGTGGCTGCCACTGCAGGCATGGCTATCTGGGGGTTCAAGGGCTCCCCTGAGGACAGTCACGTTGGGGCTCAGTGGATCCCCTCATTGTGAAGCCCTTCAGGAGCGCAGCTCCCCGCCGGGGCGTTCCTTAGAAAAGGCTCAGAAAACACGGAACGTTTTCCCAAGAATCTCCCCAAAAACCCTGGCGATTTAGCTCTGCATCACAATGTGCAAATGATTAAGCAAAAAATGAAACCAATCACCAAGAACTCAAGAACTCTTCCTTTTCCCCACCCCAGCCACCCCCAACCTCCTTGCCACTGCTTCCTGAGACAGCACTTCTCAAACTCGGTGCCCCAGGAACCCCAGCGTGGCGACGGCATCCACTCAGAACACACAGGCTCTAGGAAGAAAGCACCCAGCCTCCCGTCTTCCTGCGCACACGTGTGTTTAGACACCGATGTCCCTGCACGCACCCGCAGGCAGCTCTCCGAGCGGCGTCACAGACACGGCTAGCTCCAGTCACGGCAGCACTCAGCCGCCCGGGTAGGCTGAGGGCTCTGGACCCTTCCCCAAGCCCCACCAGCCTGCAAGACTCCAAGGGCGGGTGGCCGGCTTCCACCCCAGCCCCCGTGCCGGTCCGGCTTTTTAGTACACAAGCGACTTTGGGGTCCCCAGGCACGAAGGGATGTAGTGCAAAGGCTGGACTCTGTTTGCTGGTTAACCACGAACGCGACGGTGGGACGAGGCAGGAGGGAGCCGGCTCCCTGCGCCTGGCTTGAGGTTCTGGCTGCTCAGAGTCTCTCCCGCTGTGACCACCCCAGCTACGATGACACCCAGGCCTTCCTGGCAGGCAAAGACCTCAGACTCCCACCAGCACCACCCAGGCCCAAGCACAGAGCCCCTGCCTGGAGGGCCCCAGGAGACCTTCCCCACCCCAGGGAAAGAGCATGAAGGAGGCAGGGTCCCGCTTCCCCAAACCTCCCAAGGTCTCCTGTTTTGACCCCAGCATGATCGCCTTGACCAAGAGGCCCCTCCCGGGCCGGCCCTGCCGCCCGATTCTGCAATGGGATCGTCCTGTAGCCACACTGAAGCTCCGGCTGTCGCCACCAGGCACCTGAGACTCGAGAGTGAATCTCTAACCGTGCCCGTTATAATCCATGTTATTTTAACAGCCACATGTGGCTGGCAGCTCCTGTATGGGGCAACGTGGTCTGAGAGCCGGGGAGAGCTGGCAGGGAGGCGCTGCAGGCACAGCCCCCCAAGACCCCCAAAGCTTTGTGGGGGACCCGTGCAGCTGCACCTCCCCCTGGGGTCCGCAGCTGGCACTGGGCTTCCTTCCTGCCCCATCAGCCACAGGGAGCTCCACACTGCGTGAGAAGGCCCTGTGACCCGAGGTCGGACAGGCGGACAGGCCCACAGTGAGCTCGAGACCCACAGACACTGACCGAGACCCGACAGGACAGACATGCACCAAAAACACGCGGACACGTGTGCTTGAGAAGAGGAGGGGGAGCCCGAACAGGCACGGNN
|
pathogenic
| 316,187 |
Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) variant at chromosome position 63419885 on chromosome 20: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
benign
|
CTGCTGGACCCGATGCCCAGCACAGCCCCAGGGGCCGCCGGGACGCAGCCCACGTGTACTGCCCCAGACAGAGCCGGCGGGAAGGAGCCTGCCCTGGCCTCGGCGCGGCCCTGCTGTCCCGGGTCTCGGGCTCCGCTCCCACCTCAGATCTGCGAGGGAGGCTCTGCCAGGAAGAGGAGGGTGGCGCGACCTGGACATGTCCTTCCCTCCCCTGGACCTCCACCATGACCCAAACTCTGCACCCTCCAAGCACAGCTGGTGAGGCTCCATGCTGCAGACACCCGACCCCGCCAGCCTGCCTCAGCTGCCAGGAGCACGCGTGGTCTCGCAGGCCCTCCCTCGGCCACAAGCCAAGAACAAGCGCACGCGAAAAGCTGCCGCCACCCACCTGGGAGGAGCCCTCGGCCAGAGCTGCCCTCTGTGTGCGAGGGGCGTCCGTGGCACCTACGCTTGGGGCTTACGGGGCCGGGGCAGGCTCAAGAAGCACCTGAGAGCGCGCCATCCCCACCCGGCCTGCCACCCTCCCTCCCAATGGTGAAATTCAGATGTGCGGTGCCCGCAGGAAACAGGAGGCTGAGGAGCATCCAGACCCCTGCCCAGCTGGTGTCCGGACCAACGACGCCCAGGAAGCGTGAGGATGAAGGGGCCTCCCGTGGGGGCTGCTCGCAGCAGGACAGGGCCTGCCCTGGGTTGTTCTCTGGCCTGGGCTCCCACCCCCACTTTCAAACCCCTCTGGTCCCCAAGCAGCCTGACCTCAGCCCCTGCCCTGAGGGACCAGCCTGCGGCCAGAAGCACCCTGAATAGATGCTCCGGACACGCAGGACAGCTGCTAGCGCCCCAGCAGGCCATGCCCCAGGCAGCCCACACGCCCGTCTCCCTCTCTGGAGCTGCCAACAGTCTCCCCGCAAGCACCAACGCCCCCAGAAGCACACAAGCAGCAAAGTCACAGGGAGAGGGTGGCATGGAGTCGCGGGCCCCCCATGGAGCAGGGTCCGAAGCATGCACGGATGCAGATAGGCAGCATGCAGCCCCACCAGCCCTCCAAGGCCAGCACCACCGGCGGCATGCACATGCCAAGGAGAGCCCCACAGGAGCACGACACAGCCACCTCCACCTTGCTGGGCTGTGCTGGCCAGGAGGGAGGGGCCCCCAGCGCAGGCCTGCACACACCCAACAGCAGACAGGGGACGCGGGGACAGGGGAGGTGCGGGTCACGGTGCAGGCCAGGAGCCCACGGTGCAAAGGGGGCGGCTCCTCCCCCGTCCTATTTCCACCTGCCCTAAACCAGGCCTGTTGTTGGGAGAGGGAGCCGCGGGCCTCTGGCTTTCTGGGGCTTCTGATGCATCAGGACCCTGAGGAGCCCGGCACACACAGACGGAGCTGCCTCCCGCGGTCGAGGCAGCCAGGAAGGCTCAGTCATCCTCAGGTACGCAGCAGAGGTGCTAGAGTGACAGCCCCAGGGGAAACGCTCCCTGAAGAGCAGTCGGGGACCCCAGGAGGCACGGACGCCTTGCTGGGTTCAGAGCCCCTGGCTGGCCCCTCTGGCTGTGCGCAGGACATCGCCTGGCGTGGGGAGCAAGAAGAAGCACCTTCCCCCAGCTCCGCCCTGCACGCAGCTGTCGGCTAGAATAGAGGGAGCTGAGCCCGCACCGCCAGGGCGGTGGGTCAGAATTGGGGTTGGGGCGCCAGCCTCCCCCTGGCTCCTCCAGAACCTCTAGTAAGCAGGGAGGGGCAGAGGAGCCGTGCAGCAGCCGTCAGTCCGTGCGGCGTGTTCCGCGGTACCTAGAGCGTCCGGGGCAGCATCCACACAGGGGCCCTCTGCACGGGCTGCCTTTACTGGAAATGAGGAGAGCACAGTTAGTCCTGGGCGCCGGCAACAGCACACGGCCGGGAGCAGGGAAACTGAGGCACTGCAACCACCCAGGGTGTTGTGTGCAGTCCCCAGCGGCAGAGCTTGCGCCCAAGCAAGGCCAGCGAGGAAGGTGCACCATCGTCTCCACCGTCCGGAGAAGAAAACACTTCCCTATTTCTGAAGGAAAAAAATCCCTGTTTTTTTTTTCCTCCAAAAATACCTTTTCCTTCCAAAGCCACAGTTTGGGTTCATGTCTTAAAAGATGTATTATTTTTTGCAGTATTCATGCTGACAAAACAATAATACATGTGGCCTCAGACGCCGCAGAAGCCCTGCTTGGGAAGGACGTGACCCCGGGAAAGGGCGTGGGTGTGAAGCACACACATTTGAGAGAGGAAAACGTGCAGTTGTCCCGCTTTGCAAACCAATCGGCGACGTTTGGCCATGCCAGCCAGTCCCCCAGTTGGAGGTGGGTCTCGGTTTACCCAGGAGGCGTGGCTGCCACTGCAGGCATGGCTATCTGGGGGTTCAAGGGCTCCCCTGAGGACAGTCACGTTGGGGCTCAGTGGATCCCCTCATTGTGAAGCCCTTCAGGAGCGCAGCTCCCCGCCGGGGCGTTCCTTAGAAAAGGCTCAGAAAACACGGAACGTTTTCCCAAGAATCTCCCCAAAAACCCTGGCGATTTAGCTCTGCATCACAATGTGCAAATGATTAAGCAAAAAATGAAACCAATCACCAAGAACTCAAGAACTCTTCCTTTTCCCCACCCCAGCCACCCCCAACCTCCTTGCCACTGCTTCCTGAGACAGCACTTCTCAAACTCGGTGCCCCAGGAACCCCAGCGTGGCGACGGCATCCACTCAGAACACACAGGCTCTAGGAAGAAAGCACCCAGCCTCCCGTCTTCCTGCGCACACGTGTGTTTAGACACCGATGTCCCTGCACGCACCCGCAGGCAGCTCTCCGAGCGGCGTCACAGACACGGCTAGCTCCAGTCACGGCAGCACTCAGCCGCCCGGGTAGGCTGAGGGCTCTGGACCCTTCCCCAAGCCCCACCAGCCTGCAAGACTCCAAGGGCGGGTGGCCGGCTTCCACCCCAGCCCCCGTGCCGGTCCGGCTTTTTAGTACACAAGCGACTTTGGGGTCCCCAGGCACGAAGGGATGTAGTGCAAAGGCTGGACTCTGTTTGCTGGTTAACCACGAACGCGACGGTGGGACGAGGCAGGAGGGAGCCGGCTCCCTGCGCCTGGCTTGAGGTTCTGGCTGCTCAGAGTCTCTCCCGCTGTGACCACCCCAGCTACGATGACACCCAGGCCTTCCTGGCAGGCAAAGACCTCAGACTCCCACCAGCACCACCCAGGCCCAAGCACAGAGCCCCTGCCTGGAGGGCCCCAGGAGACCTTCCCCACCCCAGGGAAAGAGCATGAAGGAGGCAGGGTCCCGCTTCCCCAAACCTCCCAAGGTCTCCTGTTTTGACCCCAGCATGATCGCCTTGACCAAGAGGCCCCTCCCGGGCCGGCCCTGCCGCCCGATTCTGCAATGGGATCGTCCTGTAGCCACACTGAAGCTCCGGCTGTCGCCACCAGGCACCTGAGACTCGAGAGTGAATCTCTAACCGTGCCCGTTATAATCCATGTTATTTTAACAGCCACATGTGGCTGGCAGCTCCTGTATGGGGCAACGTGGTCTGAGAGCCGGGGAGAGCTGGCAGGGAGGCGCTGCAGGCACAGCCCCCCAAGACCCCCAAAGCTTTGTGGGGGACCCGTGCAGCTGCACCTCCCCCTGGGGTCCGCAGCTGGCACTGGGCTTCCTTCCTGCCCCATCAGCCACAGGGAGCTCCACACTGCGTGAGAAGGCCCTGTGACCCGAGGTCGGACAGGCGGACAGGCCCACAGTGAGCTCGAGACCCACAGACACTGACCGAGACCCGACAGGACAGACATGCACCAAAAACACGCGGACACGTGTGCTTGAGAAGAGGAGGGGGAGCCCGAACAGGCACGGGGGAGCCCGCACAGGCATGAGGGGGCAGCCGGTGTTGGGGGCTCCTCCTCCAGCACGGGGGCAGGAGGCAGTGAGATGGGGTGTCGGACAAGACAGCACAAGTCAGAACCGCCGTGGCCAAAGAGACCCCCCGGGACCCCCCTGGGGCAGCACGGCCCGAGCCCCGCAGCCTGCCTGGCTCCCCACCCGACCCCAACGTAGACGCTTCCTCTGACTCCAGCACAGCCCCAGTGGTCCCTA
|
CTGCTGGACCCGATGCCCAGCACAGCCCCAGGGGCCGCCGGGACGCAGCCCACGTGTACTGCCCCAGACAGAGCCGGCGGGAAGGAGCCTGCCCTGGCCTCGGCGCGGCCCTGCTGTCCCGGGTCTCGGGCTCCGCTCCCACCTCAGATCTGCGAGGGAGGCTCTGCCAGGAAGAGGAGGGTGGCGCGACCTGGACATGTCCTTCCCTCCCCTGGACCTCCACCATGACCCAAACTCTGCACCCTCCAAGCACAGCTGGTGAGGCTCCATGCTGCAGACACCCGACCCCGCCAGCCTGCCTCAGCTGCCAGGAGCACGCGTGGTCTCGCAGGCCCTCCCTCGGCCACAAGCCAAGAACAAGCGCACGCGAAAAGCTGCCGCCACCCACCTGGGAGGAGCCCTCGGCCAGAGCTGCCCTCTGTGTGCGAGGGGCGTCCGTGGCACCTACGCTTGGGGCTTACGGGGCCGGGGCAGGCTCAAGAAGCACCTGAGAGCGCGCCATCCCCACCCGGCCTGCCACCCTCCCTCCCAATGGTGAAATTCAGATGTGCGGTGCCCGCAGGAAACAGGAGGCTGAGGAGCATCCAGACCCCTGCCCAGCTGGTGTCCGGACCAACGACGCCCAGGAAGCGTGAGGATGAAGGGGCCTCCCGTGGGGGCTGCTCGCAGCAGGACAGGGCCTGCCCTGGGTTGTTCTCTGGCCTGGGCTCCCACCCCCACTTTCAAACCCCTCTGGTCCCCAAGCAGCCTGACCTCAGCCCCTGCCCTGAGGGACCAGCCTGCGGCCAGAAGCACCCTGAATAGATGCTCCGGACACGCAGGACAGCTGCTAGCGCCCCAGCAGGCCATGCCCCAGGCAGCCCACACGCCCGTCTCCCTCTCTGGAGCTGCCAACAGTCTCCCCGCAAGCACCAACGCCCCCAGAAGCACACAAGCAGCAAAGTCACAGGGAGAGGGTGGCATGGAGTCGCGGGCCCCCCATGGAGCAGGGTCCGAAGCATGCACGGATGCAGATAGGCAGCATGCAGCCCCACCAGCCCTCCAAGGCCAGCACCACCGGCGGCATGCACATGCCAAGGAGAGCCCCACAGGAGCACGACACAGCCACCTCCACCTTGCTGGGCTGTGCTGGCCAGGAGGGAGGGGCCCCCAGCGCAGGCCTGCACACACCCAACAGCAGACAGGGGACGCGGGGACAGGGGAGGTGCGGGTCACGGTGCAGGCCAGGAGCCCACGGTGCAAAGGGGGCGGCTCCTCCCCCGTCCTATTTCCACCTGCCCTAAACCAGGCCTGTTGTTGGGAGAGGGAGCCGCGGGCCTCTGGCTTTCTGGGGCTTCTGATGCATCAGGACCCTGAGGAGCCCGGCACACACAGACGGAGCTGCCTCCCGCGGTCGAGGCAGCCAGGAAGGCTCAGTCATCCTCAGGTACGCAGCAGAGGTGCTAGAGTGACAGCCCCAGGGGAAACGCTCCCTGAAGAGCAGTCGGGGACCCCAGGAGGCACGGACGCCTTGCTGGGTTCAGAGCCCCTGGCTGGCCCCTCTGGCTGTGCGCAGGACATCGCCTGGCGTGGGGAGCAAGAAGAAGCACCTTCCCCCAGCTCCGCCCTGCACGCAGCTGTCGGCTAGAATAGAGGGAGCTGAGCCCGCACCGCCAGGGCGGTGGGTCAGAATTGGGGTTGGGGCGCCAGCCTCCCCCTGGCTCCTCCAGAACCTCTAGTAAGCAGGGAGGGGCAGAGGAGCCGTGCAGCAGCCGTCAGTCCGTGCGGCGTGTTCCGCGGTACCTAGAGCGTCCGGGGCAGCATCCACACAGGGGCCCTCTGCACGGGCTGCCTTTACTGGAAATGAGGAGAGCACAGTTAGTCCTGGGCGCCGGCAACAGCACACGGCCGGGAGCAGGGAAACTGAGGCACTGCAACCACCCAGGGTGTTGTGTGCAGTCCCCAGCGGCAGAGCTTGCGCCCAAGCAAGGCCAGCGAGGAAGGTGCACCATCGTCTCCACCGTCCGGAGAAGAAAACACTTCCCTATTTCTGAAGGAAAAAAATCCCTGTTTTTTTTTTTCCTCCAAAAATACCTTTTCCTTCCAAAGCCACAGTTTGGGTTCATGTCTTAAAAGATGTATTATTTTTTGCAGTATTCATGCTGACAAAACAATAATACATGTGGCCTCAGACGCCGCAGAAGCCCTGCTTGGGAAGGACGTGACCCCGGGAAAGGGCGTGGGTGTGAAGCACACACATTTGAGAGAGGAAAACGTGCAGTTGTCCCGCTTTGCAAACCAATCGGCGACGTTTGGCCATGCCAGCCAGTCCCCCAGTTGGAGGTGGGTCTCGGTTTACCCAGGAGGCGTGGCTGCCACTGCAGGCATGGCTATCTGGGGGTTCAAGGGCTCCCCTGAGGACAGTCACGTTGGGGCTCAGTGGATCCCCTCATTGTGAAGCCCTTCAGGAGCGCAGCTCCCCGCCGGGGCGTTCCTTAGAAAAGGCTCAGAAAACACGGAACGTTTTCCCAAGAATCTCCCCAAAAACCCTGGCGATTTAGCTCTGCATCACAATGTGCAAATGATTAAGCAAAAAATGAAACCAATCACCAAGAACTCAAGAACTCTTCCTTTTCCCCACCCCAGCCACCCCCAACCTCCTTGCCACTGCTTCCTGAGACAGCACTTCTCAAACTCGGTGCCCCAGGAACCCCAGCGTGGCGACGGCATCCACTCAGAACACACAGGCTCTAGGAAGAAAGCACCCAGCCTCCCGTCTTCCTGCGCACACGTGTGTTTAGACACCGATGTCCCTGCACGCACCCGCAGGCAGCTCTCCGAGCGGCGTCACAGACACGGCTAGCTCCAGTCACGGCAGCACTCAGCCGCCCGGGTAGGCTGAGGGCTCTGGACCCTTCCCCAAGCCCCACCAGCCTGCAAGACTCCAAGGGCGGGTGGCCGGCTTCCACCCCAGCCCCCGTGCCGGTCCGGCTTTTTAGTACACAAGCGACTTTGGGGTCCCCAGGCACGAAGGGATGTAGTGCAAAGGCTGGACTCTGTTTGCTGGTTAACCACGAACGCGACGGTGGGACGAGGCAGGAGGGAGCCGGCTCCCTGCGCCTGGCTTGAGGTTCTGGCTGCTCAGAGTCTCTCCCGCTGTGACCACCCCAGCTACGATGACACCCAGGCCTTCCTGGCAGGCAAAGACCTCAGACTCCCACCAGCACCACCCAGGCCCAAGCACAGAGCCCCTGCCTGGAGGGCCCCAGGAGACCTTCCCCACCCCAGGGAAAGAGCATGAAGGAGGCAGGGTCCCGCTTCCCCAAACCTCCCAAGGTCTCCTGTTTTGACCCCAGCATGATCGCCTTGACCAAGAGGCCCCTCCCGGGCCGGCCCTGCCGCCCGATTCTGCAATGGGATCGTCCTGTAGCCACACTGAAGCTCCGGCTGTCGCCACCAGGCACCTGAGACTCGAGAGTGAATCTCTAACCGTGCCCGTTATAATCCATGTTATTTTAACAGCCACATGTGGCTGGCAGCTCCTGTATGGGGCAACGTGGTCTGAGAGCCGGGGAGAGCTGGCAGGGAGGCGCTGCAGGCACAGCCCCCCAAGACCCCCAAAGCTTTGTGGGGGACCCGTGCAGCTGCACCTCCCCCTGGGGTCCGCAGCTGGCACTGGGCTTCCTTCCTGCCCCATCAGCCACAGGGAGCTCCACACTGCGTGAGAAGGCCCTGTGACCCGAGGTCGGACAGGCGGACAGGCCCACAGTGAGCTCGAGACCCACAGACACTGACCGAGACCCGACAGGACAGACATGCACCAAAAACACGCGGACACGTGTGCTTGAGAAGAGGAGGGGGAGCCCGAACAGGCACGGGGGAGCCCGCACAGGCATGAGGGGGCAGCCGGTGTTGGGGGCTCCTCCTCCAGCACGGGGGCAGGAGGCAGTGAGATGGGGTGTCGGACAAGACAGCACAAGTCAGAACCGCCGTGGCCAAAGAGACCCCCCGGGACCCCCCTGGGGCAGCACGGCCCGAGCCCCGCAGCCTGCCTGGCTCCCCACCCGACCCCAACGTAGACGCTTCCTCTGACTCCAGCACAGCCCCAGTGGTCCCT
|
benign
| 316,191 |
The chromosome 20, position 63424194 genetic variant in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Inborn_genetic_diseases', 'Seizures,_benign_familial_neonatal,_1']
|
AGCCCAGGTCAGGCAGCAGAGGGGCGCCAGGAGCCGAGCTCCCCATCAAGCTTCGCAGAGCAGGCCCCTCACCCAGCAGCCCAGGGACGTGGCAGGCAATGATTGCGGAACAACTTCCTAAGCACGACCCTACACTGGACAGGCTGCGGCTGCCCCAGGCCAGGGAACAGAGATGCCACCCCGTGACCTGCCAGGTGAGCACCCCAGGATGGGCGGGGAGGGTCTTCAAGGGCAGAGACTGCTCCTCACTCCCACCGCACCCCAGGCACCTTCCAGAAGCCCCAGACCCAGCAGCCCCACGTCCCCCACCACAGGCGTCCCAGGAGGAGGGCCGGGGCGGGTGGGTGCTCGCCCGTGGGGGAGGGCGTGGGAGGCACAGGCAAGGACCCCCCGGACACATGGGGAAGAGACGGGGGAGGGGTGGGGAGCCACAGAGCTTACCGGAGAGCCCGGAGGCTCCCGCGTGTCCTCACCTGGAGTTCGCCTTCAGGGCCAGCACCTCATCCCCAAAGAGAGGGCAGACGAGAGAGGGGCCCGAGAAGGGCAGTAACAGGGATTAAAGCACTTGGGGGCAGCGGGTGTCCAGATGGGTGGAGTGGAGGGTGGGAGGGAGAGAGAGAAAGAGAGAGGCTGAGACGAGAACGTGGAGCGGGCCGGGCTGGGGCAGCGAGCACGAGGGGCCGTGAGGCACGGGGCGGGTTCCGGCGTCGCTCCCAGCAAGGGCGTGGGGCCCTGCCACGCGGAAGCCGTCGGGAAGCCTCGCGTCCACCTGGGACAGCACCGAGGTTCCGCCCAAATCACAGCCAAGGGTGCCCATTGTGGGGGGCACAGTGCTCATCCCCACAGCCACTCCCAGCCTCAGGGCCAGCAGCAGGGGCGGGGGAGGCAGTGGCAGCACTGGGGGCTGGCACCAGCAGAGGCTACGCTGCCGACCCAGCTCTTTCTGGGCCCTCGTCCGTTTTCTTAGCCTCTTTGAGAGGATGAATGAGCCCCTGGTGGTTTTCTTGGTTGGTGTGGGCCGGAAGCATTGCCCGTCTTTCCAGCTCAAGGCACTGACCATGACTCCCCTTCTGTGGGATGTGGGGTGGCTGGAAAAATGCAGCTCAGCCCCACTCCATCTCCCCGCACCCAAGCCCCGCAGTGTCTCGCCAGCTGTCACCCGCAGTCCAGGAGGGGCAGCCAGGCGTCCATCTCGGACCCCAGGTCCAAGGGGCCAGATTTACTCTGCAACATGTGGATGGGGCACAGGGGGCCCAGAGAAGCCTAGCACCTCCTCAGGGTGATGTGTCGGGGGCTGGGGCTCAGCAGACGTAGAATTAACTTGTGAAAGGATCTTGATTTTCTCTGTCTCCATCCTTCACCCCAGCAGAGCCCTTACACGAGTCCTGTCTCCAATCTGCCCGACCCACAGAACCTCGGGGCCCGGGAGAGGGAACCAGGCTAAGCACCTGCACCCTTGGCCCACTTTGACCTTGGCAAACAGGGAGAGGAGGCCAGCCAGAATCTCCACCCAGGGGCGTGAGACAGAGAGGATGTCCCACCCTCCTCGGAGGACGAGGGGCCCTGGTCTGTGCCACATGCTCCAGACACTCTGGACCCAGAGCAGCGGGAAGGCCAGAGGCCCACTTGGAGCTTTCACCCCAGCCGGCGTCGACTCAGGCCAGCTGTGAGCTCGGGCTATGTGCCTGCAGCTGGAGGGAGCGCACTAACAGAGACCCCCTGCCTCCGAGAACCCTGGGGCCAGACTTGTGGGCGGGGTGGGGGATCCCCCACCCCCGAGAAGCCGCCCAGCTGCCCGGATCCACAGTGCTGCAAAGTAAAACCGAATCACTGGGGAGGGGGTGAGCAGGAAGAGTGATTTAAGGGCCCACATCACCGCCAGGCGGGGGTCTGGACCCGCAGTCACACAGTCACACACGGAAGCACACACAAGGCCCTCACATCTCCATGACAGGTTGCGCACACGTGTGGGAGAGAGACCAGACGGCCGTGCACACGGCAGACACCAGGGTAGCAGCAGGGGGCACTGACCTTGGAGACGGCTCCGGCGGGGGGTCCTTCCTTCAAACAGAAGCAACAGAGAGTTAGTGGCCGCCCACTCAGCACCCATGAGGGTCCCCCAACCAGTCCAGCCCCCCACAGTCCCATGGGTCAGGGGCTGCAGGGGAGGGGGGTCTCAGAAAAGGCTGGGCAGGGGTGGAGCTGGCCCACCCACCCCAGAGAGCCCACGGCCCCAGGAACGGGCACCCCAGGGCCCACGGAGGCAGCTCCGAGAGGGAAGAGGGACTCCATGGGGCGGGGGCCTCTGCTCTTCTGACCTGGGGGTCTCTACCCCTCCACATTTACAGACACTCATTTTAATCAGAACCACACCAATATTAATAAAGTTCCAAAAAGCACGTGTTTGCTGAAGGAAGCTCTGGAAGGGAGTTTAATTTACAATCAATTTTCGAGACAGAGTGAGCTGCTCCGACTCTTTTTTCCACGCTCATCCTAATGGAATGATTCTCTTCCGCGTGACTTTCCAGGGGTGGCTCCACTGCGCCACAGTCAGTGAGCCCAGGGTTTGCACCGCTGACCAACTGTCCCGGCCTCGTCCTGCAGGCAAAGCTGTCTGGGCCTTCCGGCGTCTCATCTGGGGCTGTTTCCGCGGGTAAAGGCGTTATGGATTGAGTGAGAGATCGGCGGATCGTGATTTGGCTCATCCATGGGGAGGCCCCAGCGATCTCATTCGAACACCTGGGCTGGTGCCCCGGCTGGTACGCCGTGTTACAAGCAGGCTCTTTGGTGCACTTCCAAATACTTCATGTGACAGGGACCGTGTTGCCGTGGAACATGGTCCACGCTCTCGGGGAGGGTCCCTCATCACCTCCTGCAGCTCCCGGTGGCCCAGGTGTCCTTGGCTTGTGGCTGCACCGCCCCGTCTCTGCCTCCGTCTCTACACGACATTCTCTGTGTCTCTGTGTCTTCTCCTCCTCTACCTCTGTAAGGACAGCTGTCACCGGGCTAGGGCTCAAGCTGTCACCAGGCTCATCAGGATGTTCCAGGATGACCTCATCTCAAGATCCCAAGCTCAGTTACAGCTGCAAGGACCCTTTCTCCAAATCAGGTCACATTTGCAAATTCTGGGACATTTTGGAGACCAGCATTCAACCACTGCATTCCCCCGACCCCCCAAAATTCATGTCCATCTTACATCGAGAATACACTCACCCCTGCCAAGATCCCCCAAAATCTCCACCCTCTGCAGCATGGACTGTGTGTCCAAAACCTCATCGAAATCCCATCCGTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGGTGCCTGTAATCCCAGGTACTCGGGAGGTTGAGGGAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTAAGCTGTGATTGCGCCACTGCACTCCAGCCTGAGTGACGCAGGGAGACTCCGTCTCAGAGAAAAAAAAAAGAAATCCCACCCATTCAAAACGTCCCAAATCCCATCCTCTGAAGTCATGACAATCACTTAAATCAGGTATGTGTGAGACCGTGGGTGTGCGCCAACCTGGGGCTAAAGTCCTCCATGCATGGGCTTGTGAACTAGAAAACAAGCCATCTGCTTAAAGTATCAACAGCAGGACAGCTCTTCCCACTCAAAAAGGGAGAATGACAGAGGGGCCGCCGGCCACCACGTTTCCAATCCGGCGGGGCAAACTCCACGTGGCACAGCTCTGGGGACGCTCCTCGGGGGCTCTCAGCCCCGCCGGCCTCTGCGGGAGCCTCGGGATCGTTCCCCGTTTCCTAAAGGGCAGCTCGTGTTCACAGCTGAGGAGCGCCACCGGCCTGTTTCCTGCCTGCAGACTCCCGAAGTTCGATGCCCTCTTACCTTCGTCCAACGCTGTCTCTGCCAATCTAGTTTCTGCTGGTATGAAACTCCCCAAAACCTCTAGGGCCTCCTGAATATGCCACAGGCCGCA
|
AGCCCAGGTCAGGCAGCAGAGGGGCGCCAGGAGCCGAGCTCCCCATCAAGCTTCGCAGAGCAGGCCCCTCACCCAGCAGCCCAGGGACGTGGCAGGCAATGATTGCGGAACAACTTCCTAAGCACGACCCTACACTGGACAGGCTGCGGCTGCCCCAGGCCAGGGAACAGAGATGCCACCCCGTGACCTGCCAGGTGAGCACCCCAGGATGGGCGGGGAGGGTCTTCAAGGGCAGAGACTGCTCCTCACTCCCACCGCACCCCAGGCACCTTCCAGAAGCCCCAGACCCAGCAGCCCCACGTCCCCCACCACAGGCGTCCCAGGAGGAGGGCCGGGGCGGGTGGGTGCTCGCCCGTGGGGGAGGGCGTGGGAGGCACAGGCAAGGACCCCCCGGACACATGGGGAAGAGACGGGGGAGGGGTGGGGAGCCACAGAGCTTACCGGAGAGCCCGGAGGCTCCCGCGTGTCCTCACCTGGAGTTCGCCTTCAGGGCCAGCACCTCATCCCCAAAGAGAGGGCAGACGAGAGAGGGGCCCGAGAAGGGCAGTAACAGGGATTAAAGCACTTGGGGGCAGCGGGTGTCCAGATGGGTGGAGTGGAGGGTGGGAGGGAGAGAGAGAAAGAGAGAGGCTGAGACGAGAACGTGGAGCGGGCCGGGCTGGGGCAGCGAGCACGAGGGGCCGTGAGGCACGGGGCGGGTTCCGGCGTCGCTCCCAGCAAGGGCGTGGGGCCCTGCCACGCGGAAGCCGTCGGGAAGCCTCGCGTCCACCTGGGACAGCACCGAGGTTCCGCCCAAATCACAGCCAAGGGTGCCCATTGTGGGGGGCACAGTGCTCATCCCCACAGCCACTCCCAGCCTCAGGGCCAGCAGCAGGGGCGGGGGAGGCAGTGGCAGCACTGGGGGCTGGCACCAGCAGAGGCTACGCTGCCGACCCAGCTCTTTCTGGGCCCTCGTCCGTTTTCTTAGCCTCTTTGAGAGGATGAATGAGCCCCTGGTGGTTTTCTTGGTTGGTGTGGGCCGGAAGCATTGCCCGTCTTTCCAGCTCAAGGCACTGACCATGACTCCCCTTCTGTGGGATGTGGGGTGGCTGGAAAAATGCAGCTCAGCCCCACTCCATCTCCCCGCACCCAAGCCCCGCAGTGTCTCGCCAGCTGTCACCCGCAGTCCAGGAGGGGCAGCCAGGCGTCCATCTCGGACCCCAGGTCCAAGGGGCCAGATTTACTCTGCAACATGTGGATGGGGCACAGGGGGCCCAGAGAAGCCTAGCACCTCCTCAGGGTGATGTGTCGGGGGCTGGGGCTCAGCAGACGTAGAATTAACTTGTGAAAGGATCTTGATTTTCTCTGTCTCCATCCTTCACCCCAGCAGAGCCCTTACACGAGTCCTGTCTCCAATCTGCCCGACCCACAGAACCTCGGGGCCCGGGAGAGGGAACCAGGCTAAGCACCTGCACCCTTGGCCCACTTTGACCTTGGCAAACAGGGAGAGGAGGCCAGCCAGAATCTCCACCCAGGGGCGTGAGACAGAGAGGATGTCCCACCCTCCTCGGAGGACGAGGGGCCCTGGTCTGTGCCACATGCTCCAGACACTCTGGACCCAGAGCAGCGGGAAGGCCAGAGGCCCACTTGGAGCTTTCACCCCAGCCGGCGTCGACTCAGGCCAGCTGTGAGCTCGGGCTATGTGCCTGCAGCTGGAGGGAGCGCACTAACAGAGACCCCCTGCCTCCGAGAACCCTGGGGCCAGACTTGTGGGCGGGGTGGGGGATCCCCCACCCCCGAGAAGCCGCCCAGCTGCCCGGATCCACAGTGCTGCAAAGTAAAACCGAATCACTGGGGAGGGGGTGAGCAGGAAGAGTGATTTAAGGGCCCACATCACCGCCAGGCGGGGGTCTGGACCCGCAGTCACACAGTCACACACGGAAGCACACACAAGGCCCTCACATCTCCATGACAGGTTGCGCACACGTGTGGGAGAGAGACCAGACGGCCGTGCACACGGCAGACACCAGGGTAGCAGCAGGGGGCACTGACCTTGGAGACGGCTCCGGCGGGGGGGTCCTTCCTTCAAACAGAAGCAACAGAGAGTTAGTGGCCGCCCACTCAGCACCCATGAGGGTCCCCCAACCAGTCCAGCCCCCCACAGTCCCATGGGTCAGGGGCTGCAGGGGAGGGGGGTCTCAGAAAAGGCTGGGCAGGGGTGGAGCTGGCCCACCCACCCCAGAGAGCCCACGGCCCCAGGAACGGGCACCCCAGGGCCCACGGAGGCAGCTCCGAGAGGGAAGAGGGACTCCATGGGGCGGGGGCCTCTGCTCTTCTGACCTGGGGGTCTCTACCCCTCCACATTTACAGACACTCATTTTAATCAGAACCACACCAATATTAATAAAGTTCCAAAAAGCACGTGTTTGCTGAAGGAAGCTCTGGAAGGGAGTTTAATTTACAATCAATTTTCGAGACAGAGTGAGCTGCTCCGACTCTTTTTTCCACGCTCATCCTAATGGAATGATTCTCTTCCGCGTGACTTTCCAGGGGTGGCTCCACTGCGCCACAGTCAGTGAGCCCAGGGTTTGCACCGCTGACCAACTGTCCCGGCCTCGTCCTGCAGGCAAAGCTGTCTGGGCCTTCCGGCGTCTCATCTGGGGCTGTTTCCGCGGGTAAAGGCGTTATGGATTGAGTGAGAGATCGGCGGATCGTGATTTGGCTCATCCATGGGGAGGCCCCAGCGATCTCATTCGAACACCTGGGCTGGTGCCCCGGCTGGTACGCCGTGTTACAAGCAGGCTCTTTGGTGCACTTCCAAATACTTCATGTGACAGGGACCGTGTTGCCGTGGAACATGGTCCACGCTCTCGGGGAGGGTCCCTCATCACCTCCTGCAGCTCCCGGTGGCCCAGGTGTCCTTGGCTTGTGGCTGCACCGCCCCGTCTCTGCCTCCGTCTCTACACGACATTCTCTGTGTCTCTGTGTCTTCTCCTCCTCTACCTCTGTAAGGACAGCTGTCACCGGGCTAGGGCTCAAGCTGTCACCAGGCTCATCAGGATGTTCCAGGATGACCTCATCTCAAGATCCCAAGCTCAGTTACAGCTGCAAGGACCCTTTCTCCAAATCAGGTCACATTTGCAAATTCTGGGACATTTTGGAGACCAGCATTCAACCACTGCATTCCCCCGACCCCCCAAAATTCATGTCCATCTTACATCGAGAATACACTCACCCCTGCCAAGATCCCCCAAAATCTCCACCCTCTGCAGCATGGACTGTGTGTCCAAAACCTCATCGAAATCCCATCCGTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGGTGCCTGTAATCCCAGGTACTCGGGAGGTTGAGGGAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTAAGCTGTGATTGCGCCACTGCACTCCAGCCTGAGTGACGCAGGGAGACTCCGTCTCAGAGAAAAAAAAAAGAAATCCCACCCATTCAAAACGTCCCAAATCCCATCCTCTGAAGTCATGACAATCACTTAAATCAGGTATGTGTGAGACCGTGGGTGTGCGCCAACCTGGGGCTAAAGTCCTCCATGCATGGGCTTGTGAACTAGAAAACAAGCCATCTGCTTAAAGTATCAACAGCAGGACAGCTCTTCCCACTCAAAAAGGGAGAATGACAGAGGGGCCGCCGGCCACCACGTTTCCAATCCGGCGGGGCAAACTCCACGTGGCACAGCTCTGGGGACGCTCCTCGGGGGCTCTCAGCCCCGCCGGCCTCTGCGGGAGCCTCGGGATCGTTCCCCGTTTCCTAAAGGGCAGCTCGTGTTCACAGCTGAGGAGCGCCACCGGCCTGTTTCCTGCCTGCAGACTCCCGAAGTTCGATGCCCTCTTACCTTCGTCCAACGCTGTCTCTGCCAATCTAGTTTCTGCTGGTATGAAACTCCCCAAAACCTCTAGGGCCTCCTGAATATGCCACAGGCCGC
|
pathogenic
| 316,196 |
Is the genetic change at chromosome 20, position 63424194, within gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_7', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Seizures,_benign_familial_neonatal,_1']
|
AGCCCAGGTCAGGCAGCAGAGGGGCGCCAGGAGCCGAGCTCCCCATCAAGCTTCGCAGAGCAGGCCCCTCACCCAGCAGCCCAGGGACGTGGCAGGCAATGATTGCGGAACAACTTCCTAAGCACGACCCTACACTGGACAGGCTGCGGCTGCCCCAGGCCAGGGAACAGAGATGCCACCCCGTGACCTGCCAGGTGAGCACCCCAGGATGGGCGGGGAGGGTCTTCAAGGGCAGAGACTGCTCCTCACTCCCACCGCACCCCAGGCACCTTCCAGAAGCCCCAGACCCAGCAGCCCCACGTCCCCCACCACAGGCGTCCCAGGAGGAGGGCCGGGGCGGGTGGGTGCTCGCCCGTGGGGGAGGGCGTGGGAGGCACAGGCAAGGACCCCCCGGACACATGGGGAAGAGACGGGGGAGGGGTGGGGAGCCACAGAGCTTACCGGAGAGCCCGGAGGCTCCCGCGTGTCCTCACCTGGAGTTCGCCTTCAGGGCCAGCACCTCATCCCCAAAGAGAGGGCAGACGAGAGAGGGGCCCGAGAAGGGCAGTAACAGGGATTAAAGCACTTGGGGGCAGCGGGTGTCCAGATGGGTGGAGTGGAGGGTGGGAGGGAGAGAGAGAAAGAGAGAGGCTGAGACGAGAACGTGGAGCGGGCCGGGCTGGGGCAGCGAGCACGAGGGGCCGTGAGGCACGGGGCGGGTTCCGGCGTCGCTCCCAGCAAGGGCGTGGGGCCCTGCCACGCGGAAGCCGTCGGGAAGCCTCGCGTCCACCTGGGACAGCACCGAGGTTCCGCCCAAATCACAGCCAAGGGTGCCCATTGTGGGGGGCACAGTGCTCATCCCCACAGCCACTCCCAGCCTCAGGGCCAGCAGCAGGGGCGGGGGAGGCAGTGGCAGCACTGGGGGCTGGCACCAGCAGAGGCTACGCTGCCGACCCAGCTCTTTCTGGGCCCTCGTCCGTTTTCTTAGCCTCTTTGAGAGGATGAATGAGCCCCTGGTGGTTTTCTTGGTTGGTGTGGGCCGGAAGCATTGCCCGTCTTTCCAGCTCAAGGCACTGACCATGACTCCCCTTCTGTGGGATGTGGGGTGGCTGGAAAAATGCAGCTCAGCCCCACTCCATCTCCCCGCACCCAAGCCCCGCAGTGTCTCGCCAGCTGTCACCCGCAGTCCAGGAGGGGCAGCCAGGCGTCCATCTCGGACCCCAGGTCCAAGGGGCCAGATTTACTCTGCAACATGTGGATGGGGCACAGGGGGCCCAGAGAAGCCTAGCACCTCCTCAGGGTGATGTGTCGGGGGCTGGGGCTCAGCAGACGTAGAATTAACTTGTGAAAGGATCTTGATTTTCTCTGTCTCCATCCTTCACCCCAGCAGAGCCCTTACACGAGTCCTGTCTCCAATCTGCCCGACCCACAGAACCTCGGGGCCCGGGAGAGGGAACCAGGCTAAGCACCTGCACCCTTGGCCCACTTTGACCTTGGCAAACAGGGAGAGGAGGCCAGCCAGAATCTCCACCCAGGGGCGTGAGACAGAGAGGATGTCCCACCCTCCTCGGAGGACGAGGGGCCCTGGTCTGTGCCACATGCTCCAGACACTCTGGACCCAGAGCAGCGGGAAGGCCAGAGGCCCACTTGGAGCTTTCACCCCAGCCGGCGTCGACTCAGGCCAGCTGTGAGCTCGGGCTATGTGCCTGCAGCTGGAGGGAGCGCACTAACAGAGACCCCCTGCCTCCGAGAACCCTGGGGCCAGACTTGTGGGCGGGGTGGGGGATCCCCCACCCCCGAGAAGCCGCCCAGCTGCCCGGATCCACAGTGCTGCAAAGTAAAACCGAATCACTGGGGAGGGGGTGAGCAGGAAGAGTGATTTAAGGGCCCACATCACCGCCAGGCGGGGGTCTGGACCCGCAGTCACACAGTCACACACGGAAGCACACACAAGGCCCTCACATCTCCATGACAGGTTGCGCACACGTGTGGGAGAGAGACCAGACGGCCGTGCACACGGCAGACACCAGGGTAGCAGCAGGGGGCACTGACCTTGGAGACGGCTCCGGCGGGGGGTCCTTCCTTCAAACAGAAGCAACAGAGAGTTAGTGGCCGCCCACTCAGCACCCATGAGGGTCCCCCAACCAGTCCAGCCCCCCACAGTCCCATGGGTCAGGGGCTGCAGGGGAGGGGGGTCTCAGAAAAGGCTGGGCAGGGGTGGAGCTGGCCCACCCACCCCAGAGAGCCCACGGCCCCAGGAACGGGCACCCCAGGGCCCACGGAGGCAGCTCCGAGAGGGAAGAGGGACTCCATGGGGCGGGGGCCTCTGCTCTTCTGACCTGGGGGTCTCTACCCCTCCACATTTACAGACACTCATTTTAATCAGAACCACACCAATATTAATAAAGTTCCAAAAAGCACGTGTTTGCTGAAGGAAGCTCTGGAAGGGAGTTTAATTTACAATCAATTTTCGAGACAGAGTGAGCTGCTCCGACTCTTTTTTCCACGCTCATCCTAATGGAATGATTCTCTTCCGCGTGACTTTCCAGGGGTGGCTCCACTGCGCCACAGTCAGTGAGCCCAGGGTTTGCACCGCTGACCAACTGTCCCGGCCTCGTCCTGCAGGCAAAGCTGTCTGGGCCTTCCGGCGTCTCATCTGGGGCTGTTTCCGCGGGTAAAGGCGTTATGGATTGAGTGAGAGATCGGCGGATCGTGATTTGGCTCATCCATGGGGAGGCCCCAGCGATCTCATTCGAACACCTGGGCTGGTGCCCCGGCTGGTACGCCGTGTTACAAGCAGGCTCTTTGGTGCACTTCCAAATACTTCATGTGACAGGGACCGTGTTGCCGTGGAACATGGTCCACGCTCTCGGGGAGGGTCCCTCATCACCTCCTGCAGCTCCCGGTGGCCCAGGTGTCCTTGGCTTGTGGCTGCACCGCCCCGTCTCTGCCTCCGTCTCTACACGACATTCTCTGTGTCTCTGTGTCTTCTCCTCCTCTACCTCTGTAAGGACAGCTGTCACCGGGCTAGGGCTCAAGCTGTCACCAGGCTCATCAGGATGTTCCAGGATGACCTCATCTCAAGATCCCAAGCTCAGTTACAGCTGCAAGGACCCTTTCTCCAAATCAGGTCACATTTGCAAATTCTGGGACATTTTGGAGACCAGCATTCAACCACTGCATTCCCCCGACCCCCCAAAATTCATGTCCATCTTACATCGAGAATACACTCACCCCTGCCAAGATCCCCCAAAATCTCCACCCTCTGCAGCATGGACTGTGTGTCCAAAACCTCATCGAAATCCCATCCGTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGGTGCCTGTAATCCCAGGTACTCGGGAGGTTGAGGGAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTAAGCTGTGATTGCGCCACTGCACTCCAGCCTGAGTGACGCAGGGAGACTCCGTCTCAGAGAAAAAAAAAAGAAATCCCACCCATTCAAAACGTCCCAAATCCCATCCTCTGAAGTCATGACAATCACTTAAATCAGGTATGTGTGAGACCGTGGGTGTGCGCCAACCTGGGGCTAAAGTCCTCCATGCATGGGCTTGTGAACTAGAAAACAAGCCATCTGCTTAAAGTATCAACAGCAGGACAGCTCTTCCCACTCAAAAAGGGAGAATGACAGAGGGGCCGCCGGCCACCACGTTTCCAATCCGGCGGGGCAAACTCCACGTGGCACAGCTCTGGGGACGCTCCTCGGGGGCTCTCAGCCCCGCCGGCCTCTGCGGGAGCCTCGGGATCGTTCCCCGTTTCCTAAAGGGCAGCTCGTGTTCACAGCTGAGGAGCGCCACCGGCCTGTTTCCTGCCTGCAGACTCCCGAAGTTCGATGCCCTCTTACCTTCGTCCAACGCTGTCTCTGCCAATCTAGTTTCTGCTGGTATGAAACTCCCCAAAACCTCTAGGGCCTCCTGAATATGCCACAGGCCGCA
|
AGCCCAGGTCAGGCAGCAGAGGGGCGCCAGGAGCCGAGCTCCCCATCAAGCTTCGCAGAGCAGGCCCCTCACCCAGCAGCCCAGGGACGTGGCAGGCAATGATTGCGGAACAACTTCCTAAGCACGACCCTACACTGGACAGGCTGCGGCTGCCCCAGGCCAGGGAACAGAGATGCCACCCCGTGACCTGCCAGGTGAGCACCCCAGGATGGGCGGGGAGGGTCTTCAAGGGCAGAGACTGCTCCTCACTCCCACCGCACCCCAGGCACCTTCCAGAAGCCCCAGACCCAGCAGCCCCACGTCCCCCACCACAGGCGTCCCAGGAGGAGGGCCGGGGCGGGTGGGTGCTCGCCCGTGGGGGAGGGCGTGGGAGGCACAGGCAAGGACCCCCCGGACACATGGGGAAGAGACGGGGGAGGGGTGGGGAGCCACAGAGCTTACCGGAGAGCCCGGAGGCTCCCGCGTGTCCTCACCTGGAGTTCGCCTTCAGGGCCAGCACCTCATCCCCAAAGAGAGGGCAGACGAGAGAGGGGCCCGAGAAGGGCAGTAACAGGGATTAAAGCACTTGGGGGCAGCGGGTGTCCAGATGGGTGGAGTGGAGGGTGGGAGGGAGAGAGAGAAAGAGAGAGGCTGAGACGAGAACGTGGAGCGGGCCGGGCTGGGGCAGCGAGCACGAGGGGCCGTGAGGCACGGGGCGGGTTCCGGCGTCGCTCCCAGCAAGGGCGTGGGGCCCTGCCACGCGGAAGCCGTCGGGAAGCCTCGCGTCCACCTGGGACAGCACCGAGGTTCCGCCCAAATCACAGCCAAGGGTGCCCATTGTGGGGGGCACAGTGCTCATCCCCACAGCCACTCCCAGCCTCAGGGCCAGCAGCAGGGGCGGGGGAGGCAGTGGCAGCACTGGGGGCTGGCACCAGCAGAGGCTACGCTGCCGACCCAGCTCTTTCTGGGCCCTCGTCCGTTTTCTTAGCCTCTTTGAGAGGATGAATGAGCCCCTGGTGGTTTTCTTGGTTGGTGTGGGCCGGAAGCATTGCCCGTCTTTCCAGCTCAAGGCACTGACCATGACTCCCCTTCTGTGGGATGTGGGGTGGCTGGAAAAATGCAGCTCAGCCCCACTCCATCTCCCCGCACCCAAGCCCCGCAGTGTCTCGCCAGCTGTCACCCGCAGTCCAGGAGGGGCAGCCAGGCGTCCATCTCGGACCCCAGGTCCAAGGGGCCAGATTTACTCTGCAACATGTGGATGGGGCACAGGGGGCCCAGAGAAGCCTAGCACCTCCTCAGGGTGATGTGTCGGGGGCTGGGGCTCAGCAGACGTAGAATTAACTTGTGAAAGGATCTTGATTTTCTCTGTCTCCATCCTTCACCCCAGCAGAGCCCTTACACGAGTCCTGTCTCCAATCTGCCCGACCCACAGAACCTCGGGGCCCGGGAGAGGGAACCAGGCTAAGCACCTGCACCCTTGGCCCACTTTGACCTTGGCAAACAGGGAGAGGAGGCCAGCCAGAATCTCCACCCAGGGGCGTGAGACAGAGAGGATGTCCCACCCTCCTCGGAGGACGAGGGGCCCTGGTCTGTGCCACATGCTCCAGACACTCTGGACCCAGAGCAGCGGGAAGGCCAGAGGCCCACTTGGAGCTTTCACCCCAGCCGGCGTCGACTCAGGCCAGCTGTGAGCTCGGGCTATGTGCCTGCAGCTGGAGGGAGCGCACTAACAGAGACCCCCTGCCTCCGAGAACCCTGGGGCCAGACTTGTGGGCGGGGTGGGGGATCCCCCACCCCCGAGAAGCCGCCCAGCTGCCCGGATCCACAGTGCTGCAAAGTAAAACCGAATCACTGGGGAGGGGGTGAGCAGGAAGAGTGATTTAAGGGCCCACATCACCGCCAGGCGGGGGTCTGGACCCGCAGTCACACAGTCACACACGGAAGCACACACAAGGCCCTCACATCTCCATGACAGGTTGCGCACACGTGTGGGAGAGAGACCAGACGGCCGTGCACACGGCAGACACCAGGGTAGCAGCAGGGGGCACTGACCTTGGAGACGGCTCCGGCGGGGGTCCTTCCTTCAAACAGAAGCAACAGAGAGTTAGTGGCCGCCCACTCAGCACCCATGAGGGTCCCCCAACCAGTCCAGCCCCCCACAGTCCCATGGGTCAGGGGCTGCAGGGGAGGGGGGTCTCAGAAAAGGCTGGGCAGGGGTGGAGCTGGCCCACCCACCCCAGAGAGCCCACGGCCCCAGGAACGGGCACCCCAGGGCCCACGGAGGCAGCTCCGAGAGGGAAGAGGGACTCCATGGGGCGGGGGCCTCTGCTCTTCTGACCTGGGGGTCTCTACCCCTCCACATTTACAGACACTCATTTTAATCAGAACCACACCAATATTAATAAAGTTCCAAAAAGCACGTGTTTGCTGAAGGAAGCTCTGGAAGGGAGTTTAATTTACAATCAATTTTCGAGACAGAGTGAGCTGCTCCGACTCTTTTTTCCACGCTCATCCTAATGGAATGATTCTCTTCCGCGTGACTTTCCAGGGGTGGCTCCACTGCGCCACAGTCAGTGAGCCCAGGGTTTGCACCGCTGACCAACTGTCCCGGCCTCGTCCTGCAGGCAAAGCTGTCTGGGCCTTCCGGCGTCTCATCTGGGGCTGTTTCCGCGGGTAAAGGCGTTATGGATTGAGTGAGAGATCGGCGGATCGTGATTTGGCTCATCCATGGGGAGGCCCCAGCGATCTCATTCGAACACCTGGGCTGGTGCCCCGGCTGGTACGCCGTGTTACAAGCAGGCTCTTTGGTGCACTTCCAAATACTTCATGTGACAGGGACCGTGTTGCCGTGGAACATGGTCCACGCTCTCGGGGAGGGTCCCTCATCACCTCCTGCAGCTCCCGGTGGCCCAGGTGTCCTTGGCTTGTGGCTGCACCGCCCCGTCTCTGCCTCCGTCTCTACACGACATTCTCTGTGTCTCTGTGTCTTCTCCTCCTCTACCTCTGTAAGGACAGCTGTCACCGGGCTAGGGCTCAAGCTGTCACCAGGCTCATCAGGATGTTCCAGGATGACCTCATCTCAAGATCCCAAGCTCAGTTACAGCTGCAAGGACCCTTTCTCCAAATCAGGTCACATTTGCAAATTCTGGGACATTTTGGAGACCAGCATTCAACCACTGCATTCCCCCGACCCCCCAAAATTCATGTCCATCTTACATCGAGAATACACTCACCCCTGCCAAGATCCCCCAAAATCTCCACCCTCTGCAGCATGGACTGTGTGTCCAAAACCTCATCGAAATCCCATCCGTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGGTGCCTGTAATCCCAGGTACTCGGGAGGTTGAGGGAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTAAGCTGTGATTGCGCCACTGCACTCCAGCCTGAGTGACGCAGGGAGACTCCGTCTCAGAGAAAAAAAAAAGAAATCCCACCCATTCAAAACGTCCCAAATCCCATCCTCTGAAGTCATGACAATCACTTAAATCAGGTATGTGTGAGACCGTGGGTGTGCGCCAACCTGGGGCTAAAGTCCTCCATGCATGGGCTTGTGAACTAGAAAACAAGCCATCTGCTTAAAGTATCAACAGCAGGACAGCTCTTCCCACTCAAAAAGGGAGAATGACAGAGGGGCCGCCGGCCACCACGTTTCCAATCCGGCGGGGCAAACTCCACGTGGCACAGCTCTGGGGACGCTCCTCGGGGGCTCTCAGCCCCGCCGGCCTCTGCGGGAGCCTCGGGATCGTTCCCCGTTTCCTAAAGGGCAGCTCGTGTTCACAGCTGAGGAGCGCCACCGGCCTGTTTCCTGCCTGCAGACTCCCGAAGTTCGATGCCCTCTTACCTTCGTCCAACGCTGTCTCTGCCAATCTAGTTTCTGCTGGTATGAAACTCCCCAAAACCTCTAGGGCCTCCTGAATATGCCACAGGCCGCAN
|
pathogenic
| 316,197 |
Variant chromosome 20, position 63424216, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic? Disease(s)?
|
benign
|
GGCGCCAGGAGCCGAGCTCCCCATCAAGCTTCGCAGAGCAGGCCCCTCACCCAGCAGCCCAGGGACGTGGCAGGCAATGATTGCGGAACAACTTCCTAAGCACGACCCTACACTGGACAGGCTGCGGCTGCCCCAGGCCAGGGAACAGAGATGCCACCCCGTGACCTGCCAGGTGAGCACCCCAGGATGGGCGGGGAGGGTCTTCAAGGGCAGAGACTGCTCCTCACTCCCACCGCACCCCAGGCACCTTCCAGAAGCCCCAGACCCAGCAGCCCCACGTCCCCCACCACAGGCGTCCCAGGAGGAGGGCCGGGGCGGGTGGGTGCTCGCCCGTGGGGGAGGGCGTGGGAGGCACAGGCAAGGACCCCCCGGACACATGGGGAAGAGACGGGGGAGGGGTGGGGAGCCACAGAGCTTACCGGAGAGCCCGGAGGCTCCCGCGTGTCCTCACCTGGAGTTCGCCTTCAGGGCCAGCACCTCATCCCCAAAGAGAGGGCAGACGAGAGAGGGGCCCGAGAAGGGCAGTAACAGGGATTAAAGCACTTGGGGGCAGCGGGTGTCCAGATGGGTGGAGTGGAGGGTGGGAGGGAGAGAGAGAAAGAGAGAGGCTGAGACGAGAACGTGGAGCGGGCCGGGCTGGGGCAGCGAGCACGAGGGGCCGTGAGGCACGGGGCGGGTTCCGGCGTCGCTCCCAGCAAGGGCGTGGGGCCCTGCCACGCGGAAGCCGTCGGGAAGCCTCGCGTCCACCTGGGACAGCACCGAGGTTCCGCCCAAATCACAGCCAAGGGTGCCCATTGTGGGGGGCACAGTGCTCATCCCCACAGCCACTCCCAGCCTCAGGGCCAGCAGCAGGGGCGGGGGAGGCAGTGGCAGCACTGGGGGCTGGCACCAGCAGAGGCTACGCTGCCGACCCAGCTCTTTCTGGGCCCTCGTCCGTTTTCTTAGCCTCTTTGAGAGGATGAATGAGCCCCTGGTGGTTTTCTTGGTTGGTGTGGGCCGGAAGCATTGCCCGTCTTTCCAGCTCAAGGCACTGACCATGACTCCCCTTCTGTGGGATGTGGGGTGGCTGGAAAAATGCAGCTCAGCCCCACTCCATCTCCCCGCACCCAAGCCCCGCAGTGTCTCGCCAGCTGTCACCCGCAGTCCAGGAGGGGCAGCCAGGCGTCCATCTCGGACCCCAGGTCCAAGGGGCCAGATTTACTCTGCAACATGTGGATGGGGCACAGGGGGCCCAGAGAAGCCTAGCACCTCCTCAGGGTGATGTGTCGGGGGCTGGGGCTCAGCAGACGTAGAATTAACTTGTGAAAGGATCTTGATTTTCTCTGTCTCCATCCTTCACCCCAGCAGAGCCCTTACACGAGTCCTGTCTCCAATCTGCCCGACCCACAGAACCTCGGGGCCCGGGAGAGGGAACCAGGCTAAGCACCTGCACCCTTGGCCCACTTTGACCTTGGCAAACAGGGAGAGGAGGCCAGCCAGAATCTCCACCCAGGGGCGTGAGACAGAGAGGATGTCCCACCCTCCTCGGAGGACGAGGGGCCCTGGTCTGTGCCACATGCTCCAGACACTCTGGACCCAGAGCAGCGGGAAGGCCAGAGGCCCACTTGGAGCTTTCACCCCAGCCGGCGTCGACTCAGGCCAGCTGTGAGCTCGGGCTATGTGCCTGCAGCTGGAGGGAGCGCACTAACAGAGACCCCCTGCCTCCGAGAACCCTGGGGCCAGACTTGTGGGCGGGGTGGGGGATCCCCCACCCCCGAGAAGCCGCCCAGCTGCCCGGATCCACAGTGCTGCAAAGTAAAACCGAATCACTGGGGAGGGGGTGAGCAGGAAGAGTGATTTAAGGGCCCACATCACCGCCAGGCGGGGGTCTGGACCCGCAGTCACACAGTCACACACGGAAGCACACACAAGGCCCTCACATCTCCATGACAGGTTGCGCACACGTGTGGGAGAGAGACCAGACGGCCGTGCACACGGCAGACACCAGGGTAGCAGCAGGGGGCACTGACCTTGGAGACGGCTCCGGCGGGGGGTCCTTCCTTCAAACAGAAGCAACAGAGAGTTAGTGGCCGCCCACTCAGCACCCATGAGGGTCCCCCAACCAGTCCAGCCCCCCACAGTCCCATGGGTCAGGGGCTGCAGGGGAGGGGGGTCTCAGAAAAGGCTGGGCAGGGGTGGAGCTGGCCCACCCACCCCAGAGAGCCCACGGCCCCAGGAACGGGCACCCCAGGGCCCACGGAGGCAGCTCCGAGAGGGAAGAGGGACTCCATGGGGCGGGGGCCTCTGCTCTTCTGACCTGGGGGTCTCTACCCCTCCACATTTACAGACACTCATTTTAATCAGAACCACACCAATATTAATAAAGTTCCAAAAAGCACGTGTTTGCTGAAGGAAGCTCTGGAAGGGAGTTTAATTTACAATCAATTTTCGAGACAGAGTGAGCTGCTCCGACTCTTTTTTCCACGCTCATCCTAATGGAATGATTCTCTTCCGCGTGACTTTCCAGGGGTGGCTCCACTGCGCCACAGTCAGTGAGCCCAGGGTTTGCACCGCTGACCAACTGTCCCGGCCTCGTCCTGCAGGCAAAGCTGTCTGGGCCTTCCGGCGTCTCATCTGGGGCTGTTTCCGCGGGTAAAGGCGTTATGGATTGAGTGAGAGATCGGCGGATCGTGATTTGGCTCATCCATGGGGAGGCCCCAGCGATCTCATTCGAACACCTGGGCTGGTGCCCCGGCTGGTACGCCGTGTTACAAGCAGGCTCTTTGGTGCACTTCCAAATACTTCATGTGACAGGGACCGTGTTGCCGTGGAACATGGTCCACGCTCTCGGGGAGGGTCCCTCATCACCTCCTGCAGCTCCCGGTGGCCCAGGTGTCCTTGGCTTGTGGCTGCACCGCCCCGTCTCTGCCTCCGTCTCTACACGACATTCTCTGTGTCTCTGTGTCTTCTCCTCCTCTACCTCTGTAAGGACAGCTGTCACCGGGCTAGGGCTCAAGCTGTCACCAGGCTCATCAGGATGTTCCAGGATGACCTCATCTCAAGATCCCAAGCTCAGTTACAGCTGCAAGGACCCTTTCTCCAAATCAGGTCACATTTGCAAATTCTGGGACATTTTGGAGACCAGCATTCAACCACTGCATTCCCCCGACCCCCCAAAATTCATGTCCATCTTACATCGAGAATACACTCACCCCTGCCAAGATCCCCCAAAATCTCCACCCTCTGCAGCATGGACTGTGTGTCCAAAACCTCATCGAAATCCCATCCGTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGGTGCCTGTAATCCCAGGTACTCGGGAGGTTGAGGGAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTAAGCTGTGATTGCGCCACTGCACTCCAGCCTGAGTGACGCAGGGAGACTCCGTCTCAGAGAAAAAAAAAAGAAATCCCACCCATTCAAAACGTCCCAAATCCCATCCTCTGAAGTCATGACAATCACTTAAATCAGGTATGTGTGAGACCGTGGGTGTGCGCCAACCTGGGGCTAAAGTCCTCCATGCATGGGCTTGTGAACTAGAAAACAAGCCATCTGCTTAAAGTATCAACAGCAGGACAGCTCTTCCCACTCAAAAAGGGAGAATGACAGAGGGGCCGCCGGCCACCACGTTTCCAATCCGGCGGGGCAAACTCCACGTGGCACAGCTCTGGGGACGCTCCTCGGGGGCTCTCAGCCCCGCCGGCCTCTGCGGGAGCCTCGGGATCGTTCCCCGTTTCCTAAAGGGCAGCTCGTGTTCACAGCTGAGGAGCGCCACCGGCCTGTTTCCTGCCTGCAGACTCCCGAAGTTCGATGCCCTCTTACCTTCGTCCAACGCTGTCTCTGCCAATCTAGTTTCTGCTGGTATGAAACTCCCCAAAACCTCTAGGGCCTCCTGAATATGCCACAGGCCGCAACGCCGTTAGACAAGAGGCCCC
|
GGCGCCAGGAGCCGAGCTCCCCATCAAGCTTCGCAGAGCAGGCCCCTCACCCAGCAGCCCAGGGACGTGGCAGGCAATGATTGCGGAACAACTTCCTAAGCACGACCCTACACTGGACAGGCTGCGGCTGCCCCAGGCCAGGGAACAGAGATGCCACCCCGTGACCTGCCAGGTGAGCACCCCAGGATGGGCGGGGAGGGTCTTCAAGGGCAGAGACTGCTCCTCACTCCCACCGCACCCCAGGCACCTTCCAGAAGCCCCAGACCCAGCAGCCCCACGTCCCCCACCACAGGCGTCCCAGGAGGAGGGCCGGGGCGGGTGGGTGCTCGCCCGTGGGGGAGGGCGTGGGAGGCACAGGCAAGGACCCCCCGGACACATGGGGAAGAGACGGGGGAGGGGTGGGGAGCCACAGAGCTTACCGGAGAGCCCGGAGGCTCCCGCGTGTCCTCACCTGGAGTTCGCCTTCAGGGCCAGCACCTCATCCCCAAAGAGAGGGCAGACGAGAGAGGGGCCCGAGAAGGGCAGTAACAGGGATTAAAGCACTTGGGGGCAGCGGGTGTCCAGATGGGTGGAGTGGAGGGTGGGAGGGAGAGAGAGAAAGAGAGAGGCTGAGACGAGAACGTGGAGCGGGCCGGGCTGGGGCAGCGAGCACGAGGGGCCGTGAGGCACGGGGCGGGTTCCGGCGTCGCTCCCAGCAAGGGCGTGGGGCCCTGCCACGCGGAAGCCGTCGGGAAGCCTCGCGTCCACCTGGGACAGCACCGAGGTTCCGCCCAAATCACAGCCAAGGGTGCCCATTGTGGGGGGCACAGTGCTCATCCCCACAGCCACTCCCAGCCTCAGGGCCAGCAGCAGGGGCGGGGGAGGCAGTGGCAGCACTGGGGGCTGGCACCAGCAGAGGCTACGCTGCCGACCCAGCTCTTTCTGGGCCCTCGTCCGTTTTCTTAGCCTCTTTGAGAGGATGAATGAGCCCCTGGTGGTTTTCTTGGTTGGTGTGGGCCGGAAGCATTGCCCGTCTTTCCAGCTCAAGGCACTGACCATGACTCCCCTTCTGTGGGATGTGGGGTGGCTGGAAAAATGCAGCTCAGCCCCACTCCATCTCCCCGCACCCAAGCCCCGCAGTGTCTCGCCAGCTGTCACCCGCAGTCCAGGAGGGGCAGCCAGGCGTCCATCTCGGACCCCAGGTCCAAGGGGCCAGATTTACTCTGCAACATGTGGATGGGGCACAGGGGGCCCAGAGAAGCCTAGCACCTCCTCAGGGTGATGTGTCGGGGGCTGGGGCTCAGCAGACGTAGAATTAACTTGTGAAAGGATCTTGATTTTCTCTGTCTCCATCCTTCACCCCAGCAGAGCCCTTACACGAGTCCTGTCTCCAATCTGCCCGACCCACAGAACCTCGGGGCCCGGGAGAGGGAACCAGGCTAAGCACCTGCACCCTTGGCCCACTTTGACCTTGGCAAACAGGGAGAGGAGGCCAGCCAGAATCTCCACCCAGGGGCGTGAGACAGAGAGGATGTCCCACCCTCCTCGGAGGACGAGGGGCCCTGGTCTGTGCCACATGCTCCAGACACTCTGGACCCAGAGCAGCGGGAAGGCCAGAGGCCCACTTGGAGCTTTCACCCCAGCCGGCGTCGACTCAGGCCAGCTGTGAGCTCGGGCTATGTGCCTGCAGCTGGAGGGAGCGCACTAACAGAGACCCCCTGCCTCCGAGAACCCTGGGGCCAGACTTGTGGGCGGGGTGGGGGATCCCCCACCCCCGAGAAGCCGCCCAGCTGCCCGGATCCACAGTGCTGCAAAGTAAAACCGAATCACTGGGGAGGGGGTGAGCAGGAAGAGTGATTTAAGGGCCCACATCACCGCCAGGCGGGGGTCTGGACCCGCAGTCACACAGTCACACACGGAAGCACACACAAGGCCCTCACATCTCCATGACAGGTTGCGCACACGTGTGGGAGAGAGACCAGACGGCCGTGCACACGGCAGACACCAGGGTAGCAGCAGGGGGCACTGACCTTGGAGACGGCTCCGGCGGGGGGTCCTTCCTTCAAACAGAAAGCAACAGAGAGTTAGTGGCCGCCCACTCAGCACCCATGAGGGTCCCCCAACCAGTCCAGCCCCCCACAGTCCCATGGGTCAGGGGCTGCAGGGGAGGGGGGTCTCAGAAAAGGCTGGGCAGGGGTGGAGCTGGCCCACCCACCCCAGAGAGCCCACGGCCCCAGGAACGGGCACCCCAGGGCCCACGGAGGCAGCTCCGAGAGGGAAGAGGGACTCCATGGGGCGGGGGCCTCTGCTCTTCTGACCTGGGGGTCTCTACCCCTCCACATTTACAGACACTCATTTTAATCAGAACCACACCAATATTAATAAAGTTCCAAAAAGCACGTGTTTGCTGAAGGAAGCTCTGGAAGGGAGTTTAATTTACAATCAATTTTCGAGACAGAGTGAGCTGCTCCGACTCTTTTTTCCACGCTCATCCTAATGGAATGATTCTCTTCCGCGTGACTTTCCAGGGGTGGCTCCACTGCGCCACAGTCAGTGAGCCCAGGGTTTGCACCGCTGACCAACTGTCCCGGCCTCGTCCTGCAGGCAAAGCTGTCTGGGCCTTCCGGCGTCTCATCTGGGGCTGTTTCCGCGGGTAAAGGCGTTATGGATTGAGTGAGAGATCGGCGGATCGTGATTTGGCTCATCCATGGGGAGGCCCCAGCGATCTCATTCGAACACCTGGGCTGGTGCCCCGGCTGGTACGCCGTGTTACAAGCAGGCTCTTTGGTGCACTTCCAAATACTTCATGTGACAGGGACCGTGTTGCCGTGGAACATGGTCCACGCTCTCGGGGAGGGTCCCTCATCACCTCCTGCAGCTCCCGGTGGCCCAGGTGTCCTTGGCTTGTGGCTGCACCGCCCCGTCTCTGCCTCCGTCTCTACACGACATTCTCTGTGTCTCTGTGTCTTCTCCTCCTCTACCTCTGTAAGGACAGCTGTCACCGGGCTAGGGCTCAAGCTGTCACCAGGCTCATCAGGATGTTCCAGGATGACCTCATCTCAAGATCCCAAGCTCAGTTACAGCTGCAAGGACCCTTTCTCCAAATCAGGTCACATTTGCAAATTCTGGGACATTTTGGAGACCAGCATTCAACCACTGCATTCCCCCGACCCCCCAAAATTCATGTCCATCTTACATCGAGAATACACTCACCCCTGCCAAGATCCCCCAAAATCTCCACCCTCTGCAGCATGGACTGTGTGTCCAAAACCTCATCGAAATCCCATCCGTTGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCAGGTGCCTGTAATCCCAGGTACTCGGGAGGTTGAGGGAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTAAGCTGTGATTGCGCCACTGCACTCCAGCCTGAGTGACGCAGGGAGACTCCGTCTCAGAGAAAAAAAAAAGAAATCCCACCCATTCAAAACGTCCCAAATCCCATCCTCTGAAGTCATGACAATCACTTAAATCAGGTATGTGTGAGACCGTGGGTGTGCGCCAACCTGGGGCTAAAGTCCTCCATGCATGGGCTTGTGAACTAGAAAACAAGCCATCTGCTTAAAGTATCAACAGCAGGACAGCTCTTCCCACTCAAAAAGGGAGAATGACAGAGGGGCCGCCGGCCACCACGTTTCCAATCCGGCGGGGCAAACTCCACGTGGCACAGCTCTGGGGACGCTCCTCGGGGGCTCTCAGCCCCGCCGGCCTCTGCGGGAGCCTCGGGATCGTTCCCCGTTTCCTAAAGGGCAGCTCGTGTTCACAGCTGAGGAGCGCCACCGGCCTGTTTCCTGCCTGCAGACTCCCGAAGTTCGATGCCCTCTTACCTTCGTCCAACGCTGTCTCTGCCAATCTAGTTTCTGCTGGTATGAAACTCCCCAAAACCTCTAGGGCCTCCTGAATATGCCACAGGCCGCAACGCCGTTAGACAAGAGGCCC
|
benign
| 316,198 |
Clinical impact (benign or pathogenic) of the variant at chromosome 20, location 63428390, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): what disease(s) if pathogenic?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_7', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Seizures,_benign_familial_neonatal,_1']
|
TCAGCATGAGGCTGTCTGGCCACACCTGTGGGCTTCTCTCCAAAGCAGGCTTTGCCAACAGTGAATCTCCTAATTTAAGACCCTTTGCAAGCTGGACAGGCTGAGCACCTCCCAAACCTTCAAGTTCTGGTTTCTTACAGCAGTTCTGCCCTGAATGCCTTTTTTTTTTTTTTTAATAGTCTTTTGGCGGATCGGCCAGGTGCTGCTCTGAATCTCCCTGTTTCCTCTCATACTTTACTATGAGCAGCAGAAATAAATTAGGCTGCACCTTCCACACTTTGCTTGGAAATCTTCTTGGCTAAATATCCCAGTTCATCACTTAAAAATTCTGCCTCTGCCCAACAGTAGCGCACAGCCCAGTGGAGTCTCTGCCACCAACAACACAAGGACAGCCTTCCCTCCAGCTTCCAACACCTGCATCCTCACTTCCTCCTGAGCCCGCACCAGAAGCACCTTCAACATCCGTGTCCCCACCCACCATCTCTTCAGGACACCTCAGTTTCTTCCAGCCTGCACCTCAAAATACTCACGTCCAAAATCTCATCCAAATCCCATCAGTTCAAAAAGTCCCAAATTTCATCATCTGAAGTCATCAGAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGAGCCCTTGAGGTCAGGAGCTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATAACAAAACTTAGCCGGGCGTAGTAGCAGGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGTACCCGGGAAGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCATTCCAGCCTGGGCGAAAGAGCAAGACTCCATCTCAAAATAATAATAATAAATAAAATAATAAAGTCATCAGAATCATTTAAATCAGGTGTGTGTGATTGCAGGTGTGCATCAGCCTGGGGCTGGAGTCCTCCACGCATGAACCTGTGATTCTAGGAAACGAGCCCTTGGCTCACCCGGTTCTGATGTCACACCCGCGCTTGTAGGCGTTTGCCACAGCCGCACGCGGCTCCCGGTATTAAAGTCTGGATTCATGTGCAACGGCTCCTGTAACTAAGTGCCGCTGGAGTGTGTAACAACAGATGTTTGTTCTTTCACAGTCCTAGACGCCAGAGTCCAAAATCAAGGTGCGGGCGGGGCCTGCTCCCTCCGAAAGCTCCAGGGAAGGGTCCTTTCTGCCTCTTCCAGCTTCTGTGGCTCCAGGCAGCCCTTGGCTTGTGGCCGCATCACTTCAGTCTCTCTCTCCATCCTAGCTGGCTATCACCTCTGTGTGCTTCCAAATCTCCCTCTCCTTGTAAGGACACTCGTTGTTGGACTCAGGGCCCGCCCGGAAAATCCAGGATGATCTGAGATCGTCCTGATAGGTTCCAGAGCAGAAGAGTGTCTCTAGGAGGCAGAAACCAGCATCCAACCCACTGGAAGCCCCTGCCCCACCAAGGGCTTTCAGACATGGAACTGCTTGGGGACGGCTCTGGGCCTGGGCAGGCCTGGCAGGTGCATTCGCCTTCCACCTCTCCTGCTCAGCAGGCCCTTCTGCAACCTACCTCGACAGCCGGCACTCTGACAGCCGTGGGCTTTGGGCCTGAAGGAGAGGCAGCAGGCGCCATCAGCACCTGAGTTACCACCAGGCACTCGAGAGGACGACGGGCTGGGACACTTTGTCGTACGACCCACGCGCCTGGGCCCCATTAGGAGCCATGCAGAGCCCCCGGCCCCATATCAACCTTCGCCCCTCCCTCTCTGCCCGTCCCCCGAACCAGCTGCCCCTCTGGGGGTGGGAGCCCAGACCAGGTCAGCAGACGCGAAAAGAGAAAGCACCACCATCACCAAGTCCAGCGTCCCCGCGCGTCCCAGCTCCCTGGAGTCCCTGGGGCACTGTCCTGGCGTGTCTTCTGTGGGCAGCTGGGGCCCCCAGGAGGACTGAGACGCCCACCCGCCCCACCTGGAGCTCCCCAGCTGACCTGAAAGCGAGTCCAGATTTACTCTTGAGGTTCCTCAGCAGCTCCAGCTGGTTCAGCGGGGGGATAAGTCTGGGGCAAGAGAAGGAGAGGGGAGTGAGCGTCTCACCCTCCCGAGTCCTGGGACACCTCCCTCTGCTTGCACAGCTCCATGGGCAGGCGCCTGCAGTGTCAGACACCCGGCGGCATGTGACGTGGCCAGGCTTTCAGGCAGCTGCCCACTGGGCCCTGGGCTCAGGCCCACCTCTCTTGGGCAGGCCTGGGAGCCATCTTCATTCTCTGGCTGTGCCTGGGGCCTTGTCAACCAGCAGGGACAGCAGGGAGGAGGGAAGAGGGCGCCTGGCCACCCATGCAGCCCCGACCCTGCAGCCTGGAGCAGGTGGAGGAGGGCGCGCAGGTAGGGGGAGGCGCTACTCCCCCTTCTAATCCCTGAACATCCTAGAGGGACAGCACGCGAATATATTTAGGGCCCCGGCCCCTCTCTACACAGCCACTTTCTCTGCCAAAGCTGGAGGAGTTGGGAGGTGGGGATACAGAAAAGGATTCTGCTTGGCAAAGAGCAGCTCATTCTGGAGTCTATAGGATGAGCCCAGCCTCATCAGGCCCAGATGCCTTGGGAATCCTCCGCAGGTGGCCCAGCTCTGCTCCGAGCCCCCTTCCCAGTCCTGGTCATACCCACCCCTGTCTTCCTGCCCTGCCGCCCACAGCCACCAGCAGGACCAAGTCCGGGCCCGCCGAAGCCCCCCAGGCAGGTATGCAGGCACCTCCTCACGTCTGGGTGGGACGTCCCCCTCTTCACCCCTCCCCACTCCCACCCACCTCACTCTGCCCACTCCTCCTCACCACCCATGCCCTCACAGCATTCCAGCTCGCTTCAGGAAGAGACACCCTCCTCTGGGGCCTCCCCCACCCGGCTCCCTGACCCACCTGAACCCCCTCCACTCCGCCTCCTCAGCCTCTGCTCCCAGGCCCTGCCATCCCATCCACGGCCTCCACCCCTCCCCACACCCACCTGTGGAGCACTCCCCACTGGGGCCACGTCCTGGTCTCTCCTCTGCGTTGGAGGCAGGACGGCCACCTCCCAGCCCAGCCCTCACCCAGCTGACTCCCTACGCGGCTATGGCCACGGCCACCCCCTGGAGATGCCCCTGCCCGTGTCCTCCCTCTGCCCCAGGCTGGGCCGTGGCCCACATCCTCCAGACTCTTCACCTGCCCTGCCTCTGCCCACCCAGGCTTACTTGGTCCTCCAGATGGGCATCCTTGCCACTCTCCTGACCAAACACTCAATGGCTCCCCACTGCCTCCAAAGCAAAAGGATGGCTGACTCCATTGTCCCTCAGGGCTTGGTGATCACCCTACTGCCGACTCCCACTTCGTCCAGCCACACTCCTCCCTCCAGAGCTGTCCAGAAGCCCCTCCCTGCACCCCACCAGCCTCTGGTGCCCCCCCACAGGCTAGGCAGGTGTGAGCTGGTAAAGCCGTGCCTGGCCCCTCTTTGTTCCCTCTGCAGCCCCAGAGGTGCCCCCAAAATGCTGGCAGGAGTGGGGCTCCTGTGAGCCCCCTCCCTGCAGAGGACAGTCCGCTGTCCAAGTCGGGATGGAGCAGGAACCAGGCAGCTGGTGAGCTGGTGTTGTGGGCGCAGCAGAGCCCAGCCTGGCCGGAGTCTGTCTGGGGGCCACAGGTGGCTCCCCACCCCTCCTTGATGGGACCCACACGCACGCAGGCCCAGGTGAGAGACACACACGTCAGCCCTCAGAGCCACATAGGAGGCCATGCCTCGAACACACAGAGCAGCAGCGCCAGGGCAGACAGGCGGGCGGCAGGGCCAGGGCAGGACGGAGCTGTGGGACGAGGGTGCAACAAGGGGAGGGGGCGGCCCTGGGAGAGAGCAGAGGCTGGGGAGGAGGCAGCCGGCTTCAGCGCCAGCCTCCTGGCCCCAGGGGCAGCAGGGCCTCTGCAGACATTGGAGATGTCTTATGGCTGAGCATGTCGGGGGCAGAGGAGCCCTGGACCCACCACTGCCCAGCACTGCACCCACTTCCTTTCTGGGAATGGAGAGTCAACATTCTAACAG
|
TCAGCATGAGGCTGTCTGGCCACACCTGTGGGCTTCTCTCCAAAGCAGGCTTTGCCAACAGTGAATCTCCTAATTTAAGACCCTTTGCAAGCTGGACAGGCTGAGCACCTCCCAAACCTTCAAGTTCTGGTTTCTTACAGCAGTTCTGCCCTGAATGCCTTTTTTTTTTTTTTTAATAGTCTTTTGGCGGATCGGCCAGGTGCTGCTCTGAATCTCCCTGTTTCCTCTCATACTTTACTATGAGCAGCAGAAATAAATTAGGCTGCACCTTCCACACTTTGCTTGGAAATCTTCTTGGCTAAATATCCCAGTTCATCACTTAAAAATTCTGCCTCTGCCCAACAGTAGCGCACAGCCCAGTGGAGTCTCTGCCACCAACAACACAAGGACAGCCTTCCCTCCAGCTTCCAACACCTGCATCCTCACTTCCTCCTGAGCCCGCACCAGAAGCACCTTCAACATCCGTGTCCCCACCCACCATCTCTTCAGGACACCTCAGTTTCTTCCAGCCTGCACCTCAAAATACTCACGTCCAAAATCTCATCCAAATCCCATCAGTTCAAAAAGTCCCAAATTTCATCATCTGAAGTCATCAGAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGAGCCCTTGAGGTCAGGAGCTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATAACAAAACTTAGCCGGGCGTAGTAGCAGGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGTACCCGGGAAGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCATTCCAGCCTGGGCGAAAGAGCAAGACTCCATCTCAAAATAATAATAATAAATAAAATAATAAAGTCATCAGAATCATTTAAATCAGGTGTGTGTGATTGCAGGTGTGCATCAGCCTGGGGCTGGAGTCCTCCACGCATGAACCTGTGATTCTAGGAAACGAGCCCTTGGCTCACCCGGTTCTGATGTCACACCCGCGCTTGTAGGCGTTTGCCACAGCCGCACGCGGCTCCCGGTATTAAAGTCTGGATTCATGTGCAACGGCTCCTGTAACTAAGTGCCGCTGGAGTGTGTAACAACAGATGTTTGTTCTTTCACAGTCCTAGACGCCAGAGTCCAAAATCAAGGTGCGGGCGGGGCCTGCTCCCTCCGAAAGCTCCAGGGAAGGGTCCTTTCTGCCTCTTCCAGCTTCTGTGGCTCCAGGCAGCCCTTGGCTTGTGGCCGCATCACTTCAGTCTCTCTCTCCATCCTAGCTGGCTATCACCTCTGTGTGCTTCCAAATCTCCCTCTCCTTGTAAGGACACTCGTTGTTGGACTCAGGGCCCGCCCGGAAAATCCAGGATGATCTGAGATCGTCCTGATAGGTTCCAGAGCAGAAGAGTGTCTCTAGGAGGCAGAAACCAGCATCCAACCCACTGGAAGCCCCTGCCCCACCAAGGGCTTTCAGACATGGAACTGCTTGGGGACGGCTCTGGGCCTGGGCAGGCCTGGCAGGTGCATTCGCCTTCCACCTCTCCTGCTCAGCAGGCCCTTCTGCAACCTACCTCGACAGCCGGCACTCTGACAGCCGTGGGCTTTGGGCCTGAAGGAGAGGCAGCAGGCGCCATCAGCACCTGAGTTACCACCAGGCACTCGAGAGGACGACGGGCTGGGACACTTTGTCGTACGACCCACGCGCCTGGGCCCCATTAGGAGCCATGCAGAGCCCCCGGCCCCATATCAACCTTCGCCCCTCCCTCTCTGCCCGTCCCCCGAACCAGCTGCCCCTCTGGGGGTGGGAGCCCAGACCAGGTCAGCAGACGCGAAAAGAGAAAGCACCACCATCACCAAGTCCAGCGTCCCCGCGCGTCCCAGCTCCCTGGAGTCCCTGGGGCACTGTCCTGGCGTGTCTTCTGTGGGCAGCTGGGGCCCCCAGGAGGACTGAGACGCCCACCCGCCCCACCTGGAGCTCCCCAGCTGACCTGAAAGCGAGTCCAGATTTACTCGAGGTTCCTCAGCAGCTCCAGCTGGTTCAGCGGGGGGATAAGTCTGGGGCAAGAGAAGGAGAGGGGAGTGAGCGTCTCACCCTCCCGAGTCCTGGGACACCTCCCTCTGCTTGCACAGCTCCATGGGCAGGCGCCTGCAGTGTCAGACACCCGGCGGCATGTGACGTGGCCAGGCTTTCAGGCAGCTGCCCACTGGGCCCTGGGCTCAGGCCCACCTCTCTTGGGCAGGCCTGGGAGCCATCTTCATTCTCTGGCTGTGCCTGGGGCCTTGTCAACCAGCAGGGACAGCAGGGAGGAGGGAAGAGGGCGCCTGGCCACCCATGCAGCCCCGACCCTGCAGCCTGGAGCAGGTGGAGGAGGGCGCGCAGGTAGGGGGAGGCGCTACTCCCCCTTCTAATCCCTGAACATCCTAGAGGGACAGCACGCGAATATATTTAGGGCCCCGGCCCCTCTCTACACAGCCACTTTCTCTGCCAAAGCTGGAGGAGTTGGGAGGTGGGGATACAGAAAAGGATTCTGCTTGGCAAAGAGCAGCTCATTCTGGAGTCTATAGGATGAGCCCAGCCTCATCAGGCCCAGATGCCTTGGGAATCCTCCGCAGGTGGCCCAGCTCTGCTCCGAGCCCCCTTCCCAGTCCTGGTCATACCCACCCCTGTCTTCCTGCCCTGCCGCCCACAGCCACCAGCAGGACCAAGTCCGGGCCCGCCGAAGCCCCCCAGGCAGGTATGCAGGCACCTCCTCACGTCTGGGTGGGACGTCCCCCTCTTCACCCCTCCCCACTCCCACCCACCTCACTCTGCCCACTCCTCCTCACCACCCATGCCCTCACAGCATTCCAGCTCGCTTCAGGAAGAGACACCCTCCTCTGGGGCCTCCCCCACCCGGCTCCCTGACCCACCTGAACCCCCTCCACTCCGCCTCCTCAGCCTCTGCTCCCAGGCCCTGCCATCCCATCCACGGCCTCCACCCCTCCCCACACCCACCTGTGGAGCACTCCCCACTGGGGCCACGTCCTGGTCTCTCCTCTGCGTTGGAGGCAGGACGGCCACCTCCCAGCCCAGCCCTCACCCAGCTGACTCCCTACGCGGCTATGGCCACGGCCACCCCCTGGAGATGCCCCTGCCCGTGTCCTCCCTCTGCCCCAGGCTGGGCCGTGGCCCACATCCTCCAGACTCTTCACCTGCCCTGCCTCTGCCCACCCAGGCTTACTTGGTCCTCCAGATGGGCATCCTTGCCACTCTCCTGACCAAACACTCAATGGCTCCCCACTGCCTCCAAAGCAAAAGGATGGCTGACTCCATTGTCCCTCAGGGCTTGGTGATCACCCTACTGCCGACTCCCACTTCGTCCAGCCACACTCCTCCCTCCAGAGCTGTCCAGAAGCCCCTCCCTGCACCCCACCAGCCTCTGGTGCCCCCCCACAGGCTAGGCAGGTGTGAGCTGGTAAAGCCGTGCCTGGCCCCTCTTTGTTCCCTCTGCAGCCCCAGAGGTGCCCCCAAAATGCTGGCAGGAGTGGGGCTCCTGTGAGCCCCCTCCCTGCAGAGGACAGTCCGCTGTCCAAGTCGGGATGGAGCAGGAACCAGGCAGCTGGTGAGCTGGTGTTGTGGGCGCAGCAGAGCCCAGCCTGGCCGGAGTCTGTCTGGGGGCCACAGGTGGCTCCCCACCCCTCCTTGATGGGACCCACACGCACGCAGGCCCAGGTGAGAGACACACACGTCAGCCCTCAGAGCCACATAGGAGGCCATGCCTCGAACACACAGAGCAGCAGCGCCAGGGCAGACAGGCGGGCGGCAGGGCCAGGGCAGGACGGAGCTGTGGGACGAGGGTGCAACAAGGGGAGGGGGCGGCCCTGGGAGAGAGCAGAGGCTGGGGAGGAGGCAGCCGGCTTCAGCGCCAGCCTCCTGGCCCCAGGGGCAGCAGGGCCTCTGCAGACATTGGAGATGTCTTATGGCTGAGCATGTCGGGGGCAGAGGAGCCCTGGACCCACCACTGCCCAGCACTGCACCCACTTCCTTTCTGGGAATGGAGAGTCAACATTCTAACAGNN
|
pathogenic
| 316,201 |
Clinical significance of chromosome 20, position 63428423, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_7', 'Seizures,_benign_familial_neonatal,_1']
|
TTCTCTCCAAAGCAGGCTTTGCCAACAGTGAATCTCCTAATTTAAGACCCTTTGCAAGCTGGACAGGCTGAGCACCTCCCAAACCTTCAAGTTCTGGTTTCTTACAGCAGTTCTGCCCTGAATGCCTTTTTTTTTTTTTTTAATAGTCTTTTGGCGGATCGGCCAGGTGCTGCTCTGAATCTCCCTGTTTCCTCTCATACTTTACTATGAGCAGCAGAAATAAATTAGGCTGCACCTTCCACACTTTGCTTGGAAATCTTCTTGGCTAAATATCCCAGTTCATCACTTAAAAATTCTGCCTCTGCCCAACAGTAGCGCACAGCCCAGTGGAGTCTCTGCCACCAACAACACAAGGACAGCCTTCCCTCCAGCTTCCAACACCTGCATCCTCACTTCCTCCTGAGCCCGCACCAGAAGCACCTTCAACATCCGTGTCCCCACCCACCATCTCTTCAGGACACCTCAGTTTCTTCCAGCCTGCACCTCAAAATACTCACGTCCAAAATCTCATCCAAATCCCATCAGTTCAAAAAGTCCCAAATTTCATCATCTGAAGTCATCAGAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGAGCCCTTGAGGTCAGGAGCTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATAACAAAACTTAGCCGGGCGTAGTAGCAGGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGTACCCGGGAAGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCATTCCAGCCTGGGCGAAAGAGCAAGACTCCATCTCAAAATAATAATAATAAATAAAATAATAAAGTCATCAGAATCATTTAAATCAGGTGTGTGTGATTGCAGGTGTGCATCAGCCTGGGGCTGGAGTCCTCCACGCATGAACCTGTGATTCTAGGAAACGAGCCCTTGGCTCACCCGGTTCTGATGTCACACCCGCGCTTGTAGGCGTTTGCCACAGCCGCACGCGGCTCCCGGTATTAAAGTCTGGATTCATGTGCAACGGCTCCTGTAACTAAGTGCCGCTGGAGTGTGTAACAACAGATGTTTGTTCTTTCACAGTCCTAGACGCCAGAGTCCAAAATCAAGGTGCGGGCGGGGCCTGCTCCCTCCGAAAGCTCCAGGGAAGGGTCCTTTCTGCCTCTTCCAGCTTCTGTGGCTCCAGGCAGCCCTTGGCTTGTGGCCGCATCACTTCAGTCTCTCTCTCCATCCTAGCTGGCTATCACCTCTGTGTGCTTCCAAATCTCCCTCTCCTTGTAAGGACACTCGTTGTTGGACTCAGGGCCCGCCCGGAAAATCCAGGATGATCTGAGATCGTCCTGATAGGTTCCAGAGCAGAAGAGTGTCTCTAGGAGGCAGAAACCAGCATCCAACCCACTGGAAGCCCCTGCCCCACCAAGGGCTTTCAGACATGGAACTGCTTGGGGACGGCTCTGGGCCTGGGCAGGCCTGGCAGGTGCATTCGCCTTCCACCTCTCCTGCTCAGCAGGCCCTTCTGCAACCTACCTCGACAGCCGGCACTCTGACAGCCGTGGGCTTTGGGCCTGAAGGAGAGGCAGCAGGCGCCATCAGCACCTGAGTTACCACCAGGCACTCGAGAGGACGACGGGCTGGGACACTTTGTCGTACGACCCACGCGCCTGGGCCCCATTAGGAGCCATGCAGAGCCCCCGGCCCCATATCAACCTTCGCCCCTCCCTCTCTGCCCGTCCCCCGAACCAGCTGCCCCTCTGGGGGTGGGAGCCCAGACCAGGTCAGCAGACGCGAAAAGAGAAAGCACCACCATCACCAAGTCCAGCGTCCCCGCGCGTCCCAGCTCCCTGGAGTCCCTGGGGCACTGTCCTGGCGTGTCTTCTGTGGGCAGCTGGGGCCCCCAGGAGGACTGAGACGCCCACCCGCCCCACCTGGAGCTCCCCAGCTGACCTGAAAGCGAGTCCAGATTTACTCTTGAGGTTCCTCAGCAGCTCCAGCTGGTTCAGCGGGGGGATAAGTCTGGGGCAAGAGAAGGAGAGGGGAGTGAGCGTCTCACCCTCCCGAGTCCTGGGACACCTCCCTCTGCTTGCACAGCTCCATGGGCAGGCGCCTGCAGTGTCAGACACCCGGCGGCATGTGACGTGGCCAGGCTTTCAGGCAGCTGCCCACTGGGCCCTGGGCTCAGGCCCACCTCTCTTGGGCAGGCCTGGGAGCCATCTTCATTCTCTGGCTGTGCCTGGGGCCTTGTCAACCAGCAGGGACAGCAGGGAGGAGGGAAGAGGGCGCCTGGCCACCCATGCAGCCCCGACCCTGCAGCCTGGAGCAGGTGGAGGAGGGCGCGCAGGTAGGGGGAGGCGCTACTCCCCCTTCTAATCCCTGAACATCCTAGAGGGACAGCACGCGAATATATTTAGGGCCCCGGCCCCTCTCTACACAGCCACTTTCTCTGCCAAAGCTGGAGGAGTTGGGAGGTGGGGATACAGAAAAGGATTCTGCTTGGCAAAGAGCAGCTCATTCTGGAGTCTATAGGATGAGCCCAGCCTCATCAGGCCCAGATGCCTTGGGAATCCTCCGCAGGTGGCCCAGCTCTGCTCCGAGCCCCCTTCCCAGTCCTGGTCATACCCACCCCTGTCTTCCTGCCCTGCCGCCCACAGCCACCAGCAGGACCAAGTCCGGGCCCGCCGAAGCCCCCCAGGCAGGTATGCAGGCACCTCCTCACGTCTGGGTGGGACGTCCCCCTCTTCACCCCTCCCCACTCCCACCCACCTCACTCTGCCCACTCCTCCTCACCACCCATGCCCTCACAGCATTCCAGCTCGCTTCAGGAAGAGACACCCTCCTCTGGGGCCTCCCCCACCCGGCTCCCTGACCCACCTGAACCCCCTCCACTCCGCCTCCTCAGCCTCTGCTCCCAGGCCCTGCCATCCCATCCACGGCCTCCACCCCTCCCCACACCCACCTGTGGAGCACTCCCCACTGGGGCCACGTCCTGGTCTCTCCTCTGCGTTGGAGGCAGGACGGCCACCTCCCAGCCCAGCCCTCACCCAGCTGACTCCCTACGCGGCTATGGCCACGGCCACCCCCTGGAGATGCCCCTGCCCGTGTCCTCCCTCTGCCCCAGGCTGGGCCGTGGCCCACATCCTCCAGACTCTTCACCTGCCCTGCCTCTGCCCACCCAGGCTTACTTGGTCCTCCAGATGGGCATCCTTGCCACTCTCCTGACCAAACACTCAATGGCTCCCCACTGCCTCCAAAGCAAAAGGATGGCTGACTCCATTGTCCCTCAGGGCTTGGTGATCACCCTACTGCCGACTCCCACTTCGTCCAGCCACACTCCTCCCTCCAGAGCTGTCCAGAAGCCCCTCCCTGCACCCCACCAGCCTCTGGTGCCCCCCCACAGGCTAGGCAGGTGTGAGCTGGTAAAGCCGTGCCTGGCCCCTCTTTGTTCCCTCTGCAGCCCCAGAGGTGCCCCCAAAATGCTGGCAGGAGTGGGGCTCCTGTGAGCCCCCTCCCTGCAGAGGACAGTCCGCTGTCCAAGTCGGGATGGAGCAGGAACCAGGCAGCTGGTGAGCTGGTGTTGTGGGCGCAGCAGAGCCCAGCCTGGCCGGAGTCTGTCTGGGGGCCACAGGTGGCTCCCCACCCCTCCTTGATGGGACCCACACGCACGCAGGCCCAGGTGAGAGACACACACGTCAGCCCTCAGAGCCACATAGGAGGCCATGCCTCGAACACACAGAGCAGCAGCGCCAGGGCAGACAGGCGGGCGGCAGGGCCAGGGCAGGACGGAGCTGTGGGACGAGGGTGCAACAAGGGGAGGGGGCGGCCCTGGGAGAGAGCAGAGGCTGGGGAGGAGGCAGCCGGCTTCAGCGCCAGCCTCCTGGCCCCAGGGGCAGCAGGGCCTCTGCAGACATTGGAGATGTCTTATGGCTGAGCATGTCGGGGGCAGAGGAGCCCTGGACCCACCACTGCCCAGCACTGCACCCACTTCCTTTCTGGGAATGGAGAGTCAACATTCTAACAGTTCCCAGGAAGGGCAGCCAGGTCTCTCCTCCAG
|
TTCTCTCCAAAGCAGGCTTTGCCAACAGTGAATCTCCTAATTTAAGACCCTTTGCAAGCTGGACAGGCTGAGCACCTCCCAAACCTTCAAGTTCTGGTTTCTTACAGCAGTTCTGCCCTGAATGCCTTTTTTTTTTTTTTTAATAGTCTTTTGGCGGATCGGCCAGGTGCTGCTCTGAATCTCCCTGTTTCCTCTCATACTTTACTATGAGCAGCAGAAATAAATTAGGCTGCACCTTCCACACTTTGCTTGGAAATCTTCTTGGCTAAATATCCCAGTTCATCACTTAAAAATTCTGCCTCTGCCCAACAGTAGCGCACAGCCCAGTGGAGTCTCTGCCACCAACAACACAAGGACAGCCTTCCCTCCAGCTTCCAACACCTGCATCCTCACTTCCTCCTGAGCCCGCACCAGAAGCACCTTCAACATCCGTGTCCCCACCCACCATCTCTTCAGGACACCTCAGTTTCTTCCAGCCTGCACCTCAAAATACTCACGTCCAAAATCTCATCCAAATCCCATCAGTTCAAAAAGTCCCAAATTTCATCATCTGAAGTCATCAGAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGAGCCCTTGAGGTCAGGAGCTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATAACAAAACTTAGCCGGGCGTAGTAGCAGGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGTACCCGGGAAGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCATTCCAGCCTGGGCGAAAGAGCAAGACTCCATCTCAAAATAATAATAATAAATAAAATAATAAAGTCATCAGAATCATTTAAATCAGGTGTGTGTGATTGCAGGTGTGCATCAGCCTGGGGCTGGAGTCCTCCACGCATGAACCTGTGATTCTAGGAAACGAGCCCTTGGCTCACCCGGTTCTGATGTCACACCCGCGCTTGTAGGCGTTTGCCACAGCCGCACGCGGCTCCCGGTATTAAAGTCTGGATTCATGTGCAACGGCTCCTGTAACTAAGTGCCGCTGGAGTGTGTAACAACAGATGTTTGTTCTTTCACAGTCCTAGACGCCAGAGTCCAAAATCAAGGTGCGGGCGGGGCCTGCTCCCTCCGAAAGCTCCAGGGAAGGGTCCTTTCTGCCTCTTCCAGCTTCTGTGGCTCCAGGCAGCCCTTGGCTTGTGGCCGCATCACTTCAGTCTCTCTCTCCATCCTAGCTGGCTATCACCTCTGTGTGCTTCCAAATCTCCCTCTCCTTGTAAGGACACTCGTTGTTGGACTCAGGGCCCGCCCGGAAAATCCAGGATGATCTGAGATCGTCCTGATAGGTTCCAGAGCAGAAGAGTGTCTCTAGGAGGCAGAAACCAGCATCCAACCCACTGGAAGCCCCTGCCCCACCAAGGGCTTTCAGACATGGAACTGCTTGGGGACGGCTCTGGGCCTGGGCAGGCCTGGCAGGTGCATTCGCCTTCCACCTCTCCTGCTCAGCAGGCCCTTCTGCAACCTACCTCGACAGCCGGCACTCTGACAGCCGTGGGCTTTGGGCCTGAAGGAGAGGCAGCAGGCGCCATCAGCACCTGAGTTACCACCAGGCACTCGAGAGGACGACGGGCTGGGACACTTTGTCGTACGACCCACGCGCCTGGGCCCCATTAGGAGCCATGCAGAGCCCCCGGCCCCATATCAACCTTCGCCCCTCCCTCTCTGCCCGTCCCCCGAACCAGCTGCCCCTCTGGGGGTGGGAGCCCAGACCAGGTCAGCAGACGCGAAAAGAGAAAGCACCACCATCACCAAGTCCAGCGTCCCCGCGCGTCCCAGCTCCCTGGAGTCCCTGGGGCACTGTCCTGGCGTGTCTTCTGTGGGCAGCTGGGGCCCCCAGGAGGACTGAGACGCCCACCCGCCCCACCTGGAGCTCCCCAGCTGACCTGAAAGCGAGTCCAGATTTACTCTTGAGGTTCCTCAGCAGCTCCAGCTGGTTCAGCGGGGGGGATAAGTCTGGGGCAAGAGAAGGAGAGGGGAGTGAGCGTCTCACCCTCCCGAGTCCTGGGACACCTCCCTCTGCTTGCACAGCTCCATGGGCAGGCGCCTGCAGTGTCAGACACCCGGCGGCATGTGACGTGGCCAGGCTTTCAGGCAGCTGCCCACTGGGCCCTGGGCTCAGGCCCACCTCTCTTGGGCAGGCCTGGGAGCCATCTTCATTCTCTGGCTGTGCCTGGGGCCTTGTCAACCAGCAGGGACAGCAGGGAGGAGGGAAGAGGGCGCCTGGCCACCCATGCAGCCCCGACCCTGCAGCCTGGAGCAGGTGGAGGAGGGCGCGCAGGTAGGGGGAGGCGCTACTCCCCCTTCTAATCCCTGAACATCCTAGAGGGACAGCACGCGAATATATTTAGGGCCCCGGCCCCTCTCTACACAGCCACTTTCTCTGCCAAAGCTGGAGGAGTTGGGAGGTGGGGATACAGAAAAGGATTCTGCTTGGCAAAGAGCAGCTCATTCTGGAGTCTATAGGATGAGCCCAGCCTCATCAGGCCCAGATGCCTTGGGAATCCTCCGCAGGTGGCCCAGCTCTGCTCCGAGCCCCCTTCCCAGTCCTGGTCATACCCACCCCTGTCTTCCTGCCCTGCCGCCCACAGCCACCAGCAGGACCAAGTCCGGGCCCGCCGAAGCCCCCCAGGCAGGTATGCAGGCACCTCCTCACGTCTGGGTGGGACGTCCCCCTCTTCACCCCTCCCCACTCCCACCCACCTCACTCTGCCCACTCCTCCTCACCACCCATGCCCTCACAGCATTCCAGCTCGCTTCAGGAAGAGACACCCTCCTCTGGGGCCTCCCCCACCCGGCTCCCTGACCCACCTGAACCCCCTCCACTCCGCCTCCTCAGCCTCTGCTCCCAGGCCCTGCCATCCCATCCACGGCCTCCACCCCTCCCCACACCCACCTGTGGAGCACTCCCCACTGGGGCCACGTCCTGGTCTCTCCTCTGCGTTGGAGGCAGGACGGCCACCTCCCAGCCCAGCCCTCACCCAGCTGACTCCCTACGCGGCTATGGCCACGGCCACCCCCTGGAGATGCCCCTGCCCGTGTCCTCCCTCTGCCCCAGGCTGGGCCGTGGCCCACATCCTCCAGACTCTTCACCTGCCCTGCCTCTGCCCACCCAGGCTTACTTGGTCCTCCAGATGGGCATCCTTGCCACTCTCCTGACCAAACACTCAATGGCTCCCCACTGCCTCCAAAGCAAAAGGATGGCTGACTCCATTGTCCCTCAGGGCTTGGTGATCACCCTACTGCCGACTCCCACTTCGTCCAGCCACACTCCTCCCTCCAGAGCTGTCCAGAAGCCCCTCCCTGCACCCCACCAGCCTCTGGTGCCCCCCCACAGGCTAGGCAGGTGTGAGCTGGTAAAGCCGTGCCTGGCCCCTCTTTGTTCCCTCTGCAGCCCCAGAGGTGCCCCCAAAATGCTGGCAGGAGTGGGGCTCCTGTGAGCCCCCTCCCTGCAGAGGACAGTCCGCTGTCCAAGTCGGGATGGAGCAGGAACCAGGCAGCTGGTGAGCTGGTGTTGTGGGCGCAGCAGAGCCCAGCCTGGCCGGAGTCTGTCTGGGGGCCACAGGTGGCTCCCCACCCCTCCTTGATGGGACCCACACGCACGCAGGCCCAGGTGAGAGACACACACGTCAGCCCTCAGAGCCACATAGGAGGCCATGCCTCGAACACACAGAGCAGCAGCGCCAGGGCAGACAGGCGGGCGGCAGGGCCAGGGCAGGACGGAGCTGTGGGACGAGGGTGCAACAAGGGGAGGGGGCGGCCCTGGGAGAGAGCAGAGGCTGGGGAGGAGGCAGCCGGCTTCAGCGCCAGCCTCCTGGCCCCAGGGGCAGCAGGGCCTCTGCAGACATTGGAGATGTCTTATGGCTGAGCATGTCGGGGGCAGAGGAGCCCTGGACCCACCACTGCCCAGCACTGCACCCACTTCCTTTCTGGGAATGGAGAGTCAACATTCTAACAGTTCCCAGGAAGGGCAGCCAGGTCTCTCCTCCA
|
pathogenic
| 316,204 |
Is the variant located on chromosome 20 at position 63428423, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_1', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts']
|
TTCTCTCCAAAGCAGGCTTTGCCAACAGTGAATCTCCTAATTTAAGACCCTTTGCAAGCTGGACAGGCTGAGCACCTCCCAAACCTTCAAGTTCTGGTTTCTTACAGCAGTTCTGCCCTGAATGCCTTTTTTTTTTTTTTTAATAGTCTTTTGGCGGATCGGCCAGGTGCTGCTCTGAATCTCCCTGTTTCCTCTCATACTTTACTATGAGCAGCAGAAATAAATTAGGCTGCACCTTCCACACTTTGCTTGGAAATCTTCTTGGCTAAATATCCCAGTTCATCACTTAAAAATTCTGCCTCTGCCCAACAGTAGCGCACAGCCCAGTGGAGTCTCTGCCACCAACAACACAAGGACAGCCTTCCCTCCAGCTTCCAACACCTGCATCCTCACTTCCTCCTGAGCCCGCACCAGAAGCACCTTCAACATCCGTGTCCCCACCCACCATCTCTTCAGGACACCTCAGTTTCTTCCAGCCTGCACCTCAAAATACTCACGTCCAAAATCTCATCCAAATCCCATCAGTTCAAAAAGTCCCAAATTTCATCATCTGAAGTCATCAGAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGAGCCCTTGAGGTCAGGAGCTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATAACAAAACTTAGCCGGGCGTAGTAGCAGGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGTACCCGGGAAGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCATTCCAGCCTGGGCGAAAGAGCAAGACTCCATCTCAAAATAATAATAATAAATAAAATAATAAAGTCATCAGAATCATTTAAATCAGGTGTGTGTGATTGCAGGTGTGCATCAGCCTGGGGCTGGAGTCCTCCACGCATGAACCTGTGATTCTAGGAAACGAGCCCTTGGCTCACCCGGTTCTGATGTCACACCCGCGCTTGTAGGCGTTTGCCACAGCCGCACGCGGCTCCCGGTATTAAAGTCTGGATTCATGTGCAACGGCTCCTGTAACTAAGTGCCGCTGGAGTGTGTAACAACAGATGTTTGTTCTTTCACAGTCCTAGACGCCAGAGTCCAAAATCAAGGTGCGGGCGGGGCCTGCTCCCTCCGAAAGCTCCAGGGAAGGGTCCTTTCTGCCTCTTCCAGCTTCTGTGGCTCCAGGCAGCCCTTGGCTTGTGGCCGCATCACTTCAGTCTCTCTCTCCATCCTAGCTGGCTATCACCTCTGTGTGCTTCCAAATCTCCCTCTCCTTGTAAGGACACTCGTTGTTGGACTCAGGGCCCGCCCGGAAAATCCAGGATGATCTGAGATCGTCCTGATAGGTTCCAGAGCAGAAGAGTGTCTCTAGGAGGCAGAAACCAGCATCCAACCCACTGGAAGCCCCTGCCCCACCAAGGGCTTTCAGACATGGAACTGCTTGGGGACGGCTCTGGGCCTGGGCAGGCCTGGCAGGTGCATTCGCCTTCCACCTCTCCTGCTCAGCAGGCCCTTCTGCAACCTACCTCGACAGCCGGCACTCTGACAGCCGTGGGCTTTGGGCCTGAAGGAGAGGCAGCAGGCGCCATCAGCACCTGAGTTACCACCAGGCACTCGAGAGGACGACGGGCTGGGACACTTTGTCGTACGACCCACGCGCCTGGGCCCCATTAGGAGCCATGCAGAGCCCCCGGCCCCATATCAACCTTCGCCCCTCCCTCTCTGCCCGTCCCCCGAACCAGCTGCCCCTCTGGGGGTGGGAGCCCAGACCAGGTCAGCAGACGCGAAAAGAGAAAGCACCACCATCACCAAGTCCAGCGTCCCCGCGCGTCCCAGCTCCCTGGAGTCCCTGGGGCACTGTCCTGGCGTGTCTTCTGTGGGCAGCTGGGGCCCCCAGGAGGACTGAGACGCCCACCCGCCCCACCTGGAGCTCCCCAGCTGACCTGAAAGCGAGTCCAGATTTACTCTTGAGGTTCCTCAGCAGCTCCAGCTGGTTCAGCGGGGGGATAAGTCTGGGGCAAGAGAAGGAGAGGGGAGTGAGCGTCTCACCCTCCCGAGTCCTGGGACACCTCCCTCTGCTTGCACAGCTCCATGGGCAGGCGCCTGCAGTGTCAGACACCCGGCGGCATGTGACGTGGCCAGGCTTTCAGGCAGCTGCCCACTGGGCCCTGGGCTCAGGCCCACCTCTCTTGGGCAGGCCTGGGAGCCATCTTCATTCTCTGGCTGTGCCTGGGGCCTTGTCAACCAGCAGGGACAGCAGGGAGGAGGGAAGAGGGCGCCTGGCCACCCATGCAGCCCCGACCCTGCAGCCTGGAGCAGGTGGAGGAGGGCGCGCAGGTAGGGGGAGGCGCTACTCCCCCTTCTAATCCCTGAACATCCTAGAGGGACAGCACGCGAATATATTTAGGGCCCCGGCCCCTCTCTACACAGCCACTTTCTCTGCCAAAGCTGGAGGAGTTGGGAGGTGGGGATACAGAAAAGGATTCTGCTTGGCAAAGAGCAGCTCATTCTGGAGTCTATAGGATGAGCCCAGCCTCATCAGGCCCAGATGCCTTGGGAATCCTCCGCAGGTGGCCCAGCTCTGCTCCGAGCCCCCTTCCCAGTCCTGGTCATACCCACCCCTGTCTTCCTGCCCTGCCGCCCACAGCCACCAGCAGGACCAAGTCCGGGCCCGCCGAAGCCCCCCAGGCAGGTATGCAGGCACCTCCTCACGTCTGGGTGGGACGTCCCCCTCTTCACCCCTCCCCACTCCCACCCACCTCACTCTGCCCACTCCTCCTCACCACCCATGCCCTCACAGCATTCCAGCTCGCTTCAGGAAGAGACACCCTCCTCTGGGGCCTCCCCCACCCGGCTCCCTGACCCACCTGAACCCCCTCCACTCCGCCTCCTCAGCCTCTGCTCCCAGGCCCTGCCATCCCATCCACGGCCTCCACCCCTCCCCACACCCACCTGTGGAGCACTCCCCACTGGGGCCACGTCCTGGTCTCTCCTCTGCGTTGGAGGCAGGACGGCCACCTCCCAGCCCAGCCCTCACCCAGCTGACTCCCTACGCGGCTATGGCCACGGCCACCCCCTGGAGATGCCCCTGCCCGTGTCCTCCCTCTGCCCCAGGCTGGGCCGTGGCCCACATCCTCCAGACTCTTCACCTGCCCTGCCTCTGCCCACCCAGGCTTACTTGGTCCTCCAGATGGGCATCCTTGCCACTCTCCTGACCAAACACTCAATGGCTCCCCACTGCCTCCAAAGCAAAAGGATGGCTGACTCCATTGTCCCTCAGGGCTTGGTGATCACCCTACTGCCGACTCCCACTTCGTCCAGCCACACTCCTCCCTCCAGAGCTGTCCAGAAGCCCCTCCCTGCACCCCACCAGCCTCTGGTGCCCCCCCACAGGCTAGGCAGGTGTGAGCTGGTAAAGCCGTGCCTGGCCCCTCTTTGTTCCCTCTGCAGCCCCAGAGGTGCCCCCAAAATGCTGGCAGGAGTGGGGCTCCTGTGAGCCCCCTCCCTGCAGAGGACAGTCCGCTGTCCAAGTCGGGATGGAGCAGGAACCAGGCAGCTGGTGAGCTGGTGTTGTGGGCGCAGCAGAGCCCAGCCTGGCCGGAGTCTGTCTGGGGGCCACAGGTGGCTCCCCACCCCTCCTTGATGGGACCCACACGCACGCAGGCCCAGGTGAGAGACACACACGTCAGCCCTCAGAGCCACATAGGAGGCCATGCCTCGAACACACAGAGCAGCAGCGCCAGGGCAGACAGGCGGGCGGCAGGGCCAGGGCAGGACGGAGCTGTGGGACGAGGGTGCAACAAGGGGAGGGGGCGGCCCTGGGAGAGAGCAGAGGCTGGGGAGGAGGCAGCCGGCTTCAGCGCCAGCCTCCTGGCCCCAGGGGCAGCAGGGCCTCTGCAGACATTGGAGATGTCTTATGGCTGAGCATGTCGGGGGCAGAGGAGCCCTGGACCCACCACTGCCCAGCACTGCACCCACTTCCTTTCTGGGAATGGAGAGTCAACATTCTAACAGTTCCCAGGAAGGGCAGCCAGGTCTCTCCTCCAG
|
TTCTCTCCAAAGCAGGCTTTGCCAACAGTGAATCTCCTAATTTAAGACCCTTTGCAAGCTGGACAGGCTGAGCACCTCCCAAACCTTCAAGTTCTGGTTTCTTACAGCAGTTCTGCCCTGAATGCCTTTTTTTTTTTTTTTAATAGTCTTTTGGCGGATCGGCCAGGTGCTGCTCTGAATCTCCCTGTTTCCTCTCATACTTTACTATGAGCAGCAGAAATAAATTAGGCTGCACCTTCCACACTTTGCTTGGAAATCTTCTTGGCTAAATATCCCAGTTCATCACTTAAAAATTCTGCCTCTGCCCAACAGTAGCGCACAGCCCAGTGGAGTCTCTGCCACCAACAACACAAGGACAGCCTTCCCTCCAGCTTCCAACACCTGCATCCTCACTTCCTCCTGAGCCCGCACCAGAAGCACCTTCAACATCCGTGTCCCCACCCACCATCTCTTCAGGACACCTCAGTTTCTTCCAGCCTGCACCTCAAAATACTCACGTCCAAAATCTCATCCAAATCCCATCAGTTCAAAAAGTCCCAAATTTCATCATCTGAAGTCATCAGAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGAGCCCTTGAGGTCAGGAGCTTCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATAACAAAACTTAGCCGGGCGTAGTAGCAGGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGTACCCGGGAAGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCATTCCAGCCTGGGCGAAAGAGCAAGACTCCATCTCAAAATAATAATAATAAATAAAATAATAAAGTCATCAGAATCATTTAAATCAGGTGTGTGTGATTGCAGGTGTGCATCAGCCTGGGGCTGGAGTCCTCCACGCATGAACCTGTGATTCTAGGAAACGAGCCCTTGGCTCACCCGGTTCTGATGTCACACCCGCGCTTGTAGGCGTTTGCCACAGCCGCACGCGGCTCCCGGTATTAAAGTCTGGATTCATGTGCAACGGCTCCTGTAACTAAGTGCCGCTGGAGTGTGTAACAACAGATGTTTGTTCTTTCACAGTCCTAGACGCCAGAGTCCAAAATCAAGGTGCGGGCGGGGCCTGCTCCCTCCGAAAGCTCCAGGGAAGGGTCCTTTCTGCCTCTTCCAGCTTCTGTGGCTCCAGGCAGCCCTTGGCTTGTGGCCGCATCACTTCAGTCTCTCTCTCCATCCTAGCTGGCTATCACCTCTGTGTGCTTCCAAATCTCCCTCTCCTTGTAAGGACACTCGTTGTTGGACTCAGGGCCCGCCCGGAAAATCCAGGATGATCTGAGATCGTCCTGATAGGTTCCAGAGCAGAAGAGTGTCTCTAGGAGGCAGAAACCAGCATCCAACCCACTGGAAGCCCCTGCCCCACCAAGGGCTTTCAGACATGGAACTGCTTGGGGACGGCTCTGGGCCTGGGCAGGCCTGGCAGGTGCATTCGCCTTCCACCTCTCCTGCTCAGCAGGCCCTTCTGCAACCTACCTCGACAGCCGGCACTCTGACAGCCGTGGGCTTTGGGCCTGAAGGAGAGGCAGCAGGCGCCATCAGCACCTGAGTTACCACCAGGCACTCGAGAGGACGACGGGCTGGGACACTTTGTCGTACGACCCACGCGCCTGGGCCCCATTAGGAGCCATGCAGAGCCCCCGGCCCCATATCAACCTTCGCCCCTCCCTCTCTGCCCGTCCCCCGAACCAGCTGCCCCTCTGGGGGTGGGAGCCCAGACCAGGTCAGCAGACGCGAAAAGAGAAAGCACCACCATCACCAAGTCCAGCGTCCCCGCGCGTCCCAGCTCCCTGGAGTCCCTGGGGCACTGTCCTGGCGTGTCTTCTGTGGGCAGCTGGGGCCCCCAGGAGGACTGAGACGCCCACCCGCCCCACCTGGAGCTCCCCAGCTGACCTGAAAGCGAGTCCAGATTTACTCTTGAGGTTCCTCAGCAGCTCCAGCTGGTTCAGCGGGGGATAAGTCTGGGGCAAGAGAAGGAGAGGGGAGTGAGCGTCTCACCCTCCCGAGTCCTGGGACACCTCCCTCTGCTTGCACAGCTCCATGGGCAGGCGCCTGCAGTGTCAGACACCCGGCGGCATGTGACGTGGCCAGGCTTTCAGGCAGCTGCCCACTGGGCCCTGGGCTCAGGCCCACCTCTCTTGGGCAGGCCTGGGAGCCATCTTCATTCTCTGGCTGTGCCTGGGGCCTTGTCAACCAGCAGGGACAGCAGGGAGGAGGGAAGAGGGCGCCTGGCCACCCATGCAGCCCCGACCCTGCAGCCTGGAGCAGGTGGAGGAGGGCGCGCAGGTAGGGGGAGGCGCTACTCCCCCTTCTAATCCCTGAACATCCTAGAGGGACAGCACGCGAATATATTTAGGGCCCCGGCCCCTCTCTACACAGCCACTTTCTCTGCCAAAGCTGGAGGAGTTGGGAGGTGGGGATACAGAAAAGGATTCTGCTTGGCAAAGAGCAGCTCATTCTGGAGTCTATAGGATGAGCCCAGCCTCATCAGGCCCAGATGCCTTGGGAATCCTCCGCAGGTGGCCCAGCTCTGCTCCGAGCCCCCTTCCCAGTCCTGGTCATACCCACCCCTGTCTTCCTGCCCTGCCGCCCACAGCCACCAGCAGGACCAAGTCCGGGCCCGCCGAAGCCCCCCAGGCAGGTATGCAGGCACCTCCTCACGTCTGGGTGGGACGTCCCCCTCTTCACCCCTCCCCACTCCCACCCACCTCACTCTGCCCACTCCTCCTCACCACCCATGCCCTCACAGCATTCCAGCTCGCTTCAGGAAGAGACACCCTCCTCTGGGGCCTCCCCCACCCGGCTCCCTGACCCACCTGAACCCCCTCCACTCCGCCTCCTCAGCCTCTGCTCCCAGGCCCTGCCATCCCATCCACGGCCTCCACCCCTCCCCACACCCACCTGTGGAGCACTCCCCACTGGGGCCACGTCCTGGTCTCTCCTCTGCGTTGGAGGCAGGACGGCCACCTCCCAGCCCAGCCCTCACCCAGCTGACTCCCTACGCGGCTATGGCCACGGCCACCCCCTGGAGATGCCCCTGCCCGTGTCCTCCCTCTGCCCCAGGCTGGGCCGTGGCCCACATCCTCCAGACTCTTCACCTGCCCTGCCTCTGCCCACCCAGGCTTACTTGGTCCTCCAGATGGGCATCCTTGCCACTCTCCTGACCAAACACTCAATGGCTCCCCACTGCCTCCAAAGCAAAAGGATGGCTGACTCCATTGTCCCTCAGGGCTTGGTGATCACCCTACTGCCGACTCCCACTTCGTCCAGCCACACTCCTCCCTCCAGAGCTGTCCAGAAGCCCCTCCCTGCACCCCACCAGCCTCTGGTGCCCCCCCACAGGCTAGGCAGGTGTGAGCTGGTAAAGCCGTGCCTGGCCCCTCTTTGTTCCCTCTGCAGCCCCAGAGGTGCCCCCAAAATGCTGGCAGGAGTGGGGCTCCTGTGAGCCCCCTCCCTGCAGAGGACAGTCCGCTGTCCAAGTCGGGATGGAGCAGGAACCAGGCAGCTGGTGAGCTGGTGTTGTGGGCGCAGCAGAGCCCAGCCTGGCCGGAGTCTGTCTGGGGGCCACAGGTGGCTCCCCACCCCTCCTTGATGGGACCCACACGCACGCAGGCCCAGGTGAGAGACACACACGTCAGCCCTCAGAGCCACATAGGAGGCCATGCCTCGAACACACAGAGCAGCAGCGCCAGGGCAGACAGGCGGGCGGCAGGGCCAGGGCAGGACGGAGCTGTGGGACGAGGGTGCAACAAGGGGAGGGGGCGGCCCTGGGAGAGAGCAGAGGCTGGGGAGGAGGCAGCCGGCTTCAGCGCCAGCCTCCTGGCCCCAGGGGCAGCAGGGCCTCTGCAGACATTGGAGATGTCTTATGGCTGAGCATGTCGGGGGCAGAGGAGCCCTGGACCCACCACTGCCCAGCACTGCACCCACTTCCTTTCTGGGAATGGAGAGTCAACATTCTAACAGTTCCCAGGAAGGGCAGCCAGGTCTCTCCTCCAGN
|
pathogenic
| 316,206 |
Does the chromosome 20 mutation at position 63433809 within gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts']
|
CTGTCCACCCTGGCCAACTCAGGATCCTCAAGAAGAATCCTGGGCCCCACCCCAGCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTACCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCAGGTCTGTGCGCGAGAGGTTGGTGGCGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCTCT
|
CTGTCCACCCTGGCCAACTCAGGATCCTCAAGAAGAATCCTGGGCCCCACCCCAGCTTAGAATTCCCAGCCACACTGTGCACCTGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTACCTTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCAGGTCTGTGCGCGAGAGGTTGGTGGCGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCTC
|
pathogenic
| 316,223 |
Variant on chromosome 20, at position 63433914, affecting KCNQ2 (potassium voltage-gated channel subfamily Q member 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
CCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTACCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCAGGTCTGTGCGCGAGAGGTTGGTGGCGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGACAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCTCTCCGGCACATGGGTGGCTCGCCACACTGGCTCATCTCTCGAGAGTCCCCCACCCTCTGGCCACAGTGGTTCATCTCTGGTTATAATCCTTTCTTCTAATTCCCAAA
|
CCACCCTCAGGGAAAGCCCCGCCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGTAGGATCCACCCACAGGGAAGGCCCCACCCGCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCATCCACAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGACTCCACCCACAGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCACACCCACAGGGAAGGCTCCACCCTCTGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGATCCACCCACAGGGAAGGCCCCAGCCTCTGGGAAGTCCCCACCCTCAGGGAAGGCTCCACCCACAGAGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCACAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGATCCACCCACAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGATCCACCCACAGAGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCTGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCTCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCCCCACCCTCAGGGAAGGCTCCACCCTCTGGGAAGGCCCCACCCCCAGGGAAGGATCCACCCTCAGGGAAGGCTCCACCCACAGGGAAGGCCCCACCCTTAGGGAAGGCTCCAGGGGACAGAAACCCCCTAGGAGCAGGTGACGGGGGGCGCGGGAGCTGGGAAGTCCCGGGGCTCAGTTCCCCACCTCAGAGCAGAGGGCGGGCGGGCAAGGTGGTGCCCACACAGACGGACTCGAGGGGTCAGGCCCGCGTGGACCAGGAGAAAGGCCCTCAGAACCCCTCATCTCAGACCTTAATTTAAGCAAGAGCCAGGCAACGAAAATCCCAGCTGGCTGCCACCTGCCCTTTTGTAAAACAAAAAAACACGGGAAAGCCGCCCTCCGACCACACAGGCTCACAGGACCTGCTAGCACTGCCTCGACAGGCACTTTCTAGGCCCCCTTCTCTGCTGCCCGAGGGGCTCCAAGGTTGTCTGTGTGCTCTGTCCTGTTGGGGAACACCTGGGACCCCCAGGATAATTTGAGTTTCCTGGTCTGAAAGTCTCACTGTGATCCGGGGTTACTTTCCTGCCCCCCACGCCGGAGCCCTAGGTCCTTGATGGGGGACGGGGTCATGGTACTGGTTCCACTCTTGAAGCTTGGGCACCTCGAGCTGCCGGTCCAGAGCAGCCCGGGGAGCAGCTGTCGGTCCAGAGCAGCCCGGGGCGGGGGGCATTTACCTTGAGCTCCCTGGGGAGCGTCCTTGCAACGCACAAAACACAGCACGACCCACGGCCAGGACGATAAAGCAAAGGGGTGAGGAAATGAAAGTGAAGAGAAAGCCGCAGCTCTAACACAAAGGGCAGAAGCAACGCCTCGAAATAAACCACACACAGAACTCCTTTGTGAAAAATACATTTTAAAGAAAAAAAATCAATCAAAATAATGAACAACAAAAAGTGGGGTTTAAGAACAAATGGAAAATAAAAAATGAAACAGTTGCTTGGTGGCAGGTGCCCGGCGGCGGTACCTGTACATGGGCACGGTGACCGTTCGCTCGTAGTACTGCCACGTGGAGTGCAGGTCTGTGCGCGAGAGGTTGGTGGCGTAGAATCTCCAGGCCGACTGCGGAGGGAAAGGCAGTTGGCGAGGGGCAGGCGGCGAGGGGCGCGCCCAGGAGGGCCGGGCGTGGAGGGAACGGGGCAGAGGGGACCCCCATGCTGTAGGCCAGGCACTCAGGACTCTGGGCCAGCAGGCCAGGCCCCAGTGCTGCATCAGCCCCACAGCCTCAGTTTACCCTCTGTAGGACAGACAGGCAAGCCCGCTTGTCAGACGGTGGGGCCTGAAGGAGGGGAGCGGTTGGGGCTTGACTCGGGGCCCTGAGCGAGCTCGCAGGGAGGCTGTGTTCTTTCCTTTTCATGACTCTTACCTGGCCCCTGGCGGGTATCACCTGTCCTGGGGGTTACCTTCCTGACCTCCTGGTTGGGCCCTGGGCAACCTGAGGCGCTGGGAGTATGGGTAGGGCCAGGGACCTCAGCCTCCAACCTCCCAGGGCGGGGACTCAGCCCGGCTCGGGGCATGAGCCTGTACGTCAGACTGAACCTCGCCTGGCTGGATTTCCGTTCTCTATGCCTTTGTTTTGTTTTGCGGTGCTGAAATAGACATATCCTGAAGTTCACCATGTTAGCCATGTTAAAGCGTGCACTTCAGTAGCGCCTGCACACACAGTGCTGTGCGACCACTGCCCCTATCTAACTCCACACCTCTTCGTCGCCCCCAAATAAACCCCCTCCTACCCCCGACGTTCAGCAGGCGCTCCTGGTTCCTGGTCCCCCAGGCCCTGGCCACCGCCAGGGTGTACGGGGCTCCACGGACTTCCCCGCCCCGGGCATTTCCTGCCAAGGGCATCGCAAGCTGCACGGCCTTCCCCGTCTGGCTCCCTCCACTGAGCGTGACGTCCCCGCGGCCCATCCGCGTCGTAGCAAGGGGCAGCGCCCGCTCCTCCTGATAGGAGGATCGTATGGATAAATCACATTCCGTTCATCCATTAATAGACATTTCAGCTGTTTCCACTTTTTGGTTCCTATGAGTGGTGCTGCTGTGAAATTTGTGTGCACGTTTTTGGTTGAAGGTCTGTTTTCAATTCTTTTGTGTCTGTCTATACCTAGAGGTAGAATGGCCGGGTCACGTGACAACTCCACGTTTACGAACTTTCTGAGAAACAACCGAACTGCTTTCCAGGGTGACTGCATCGCTACATTCCTACCAGCAGGGGGGGCGGTGTCCACACATCCTCACTACGCTGATTTGCCATTTGCTAACATGTCAGCCGCCCTGGCCTGGCGCAGAGGCTCACAACACCTTGGAGGCTGAAGCAGGTGGATCGCCTGAGCCCAGGAGTTCAAGCCCAGCCTGGGAAACATGGCAAAACCCTGCCTTTACTTAAAACAAAAAATTAGCCAGATATGGTGGTGCACACCTGTAGTCCCAGTTACTCAGGAGGCTAAGGTGGGAGGATCGCTTGAACCTGGCAGGTCGAGGCTGCAGTGAGCCAAGATCACACAACTGCACTCCAGCCTGGGCAAGAGAGCAAGTCCCTATCTCAACAACAACAAAAAAAAAAAGTTGGCCATCCTAACGTGGAGCCTGAAGACGGGACTGAACTGCTGCCATCTCAGGATAAAACTCTAACAGGTGAGGAGCAGCATTTATGGATGAGCAAAGTAAGTGGTTTCTTGGGATGGACGGTGAACACTGCAGACAGCAGGGTAAGGTCACTTCTGTCAGGTCCAAACCAACCGAGGCCAGAGAGTACACGGCGGCAGGGCTCACGCCTGCATGGCTGAGATGAGGACAGTGTCAAAGACATTCTAAAATAACCCCACAAGGAATTCCTTATCAGGAATGCAGCAATTCAGACAAGATGCTCTAGGAAGAACACTGGCCCAGCAGCGGCATCTCAACCAGTGAACGGCTGCCAACTCTGGTTTTCAGCCTCAGAGCCAGTGAACTCTGTTTCCAAGCAGCTTATGTGAACTTCTCAGCCAGGGAGAGCTTCCCTGCCCCTCCCTCTCCGGCACATGGGTGGCTCGCCACACTGGCTCATCTCTCGAGAGTCCCCCACCCTCTGGCCACAGTGGTTCATCTCTGGTTATAATCCTTTCTTCTAATTCCCAAANNNNN
|
benign
| 316,236 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 63439609, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Benign_Rolandic_epilepsy', 'Complex_neurodevelopmental_disorder', 'Developmental_and_epileptic_encephalopathy,_7', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'KCNQ2-related_disorder', 'Seizure', 'Seizures,_benign_familial_neonatal,_1', 'likely other unspecified diseases']
|
GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATG
|
GTCACACTGCTTTCCCCTCCTCTGTGTCAAATCTCCTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGNNN
|
pathogenic
| 316,261 |
Variant in KCNQ2 (potassium voltage-gated channel subfamily Q member 2), chromosome 20, position 63439644—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
|
pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Neurodevelopmental_disorder']
|
CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAG
|
CTTCTTATAAGGATGCATGTGATTGCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACA
|
pathogenic
| 316,270 |
Does the genetic variant at chromosome 20, position 63439668, impacting gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts']
|
GCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAGC
|
GCATTTAGGGCCCACCTGGGGTAACCCAGGATTATCTCCATCTCAAGATTTGCTGTCTAAGACAGGAGAGAGCCTATAGCCACATTCCGCTGGCAGGGATCCTGGTCAGCTCTGCGGGTCCAGTGGATGGAAGACTTTGGGGAGGAGCTGCAAGAATGGCTGGTCCCAAGGGGGTCCTGCTGTCTGTCCATATTTTCTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCTGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGACGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATTTCCTGACCTCGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGTGCCCGGCCATTGTCTGTCCGTATTTTCAAGGTGGCTCAGGAATTACTTGTGGATGCCACAGTGGTCACTGCACGCTACCCACCCCCAAATGGTGGGACGGCACTGGGTGGGGTCCGGGCGGGCATCATGGGGGCCCACAGCCAGCATCAGGGGTCAGACGAGGTCAGGCACTGACTCACTGCAGTGTGTGGGCTCTAGGAGCCTTGGCCCTGCAGCTGCAGAACGGGTGTGCTCACCTCCCAGGGTGCGGTAGAGAGGACCTGATGGCCGGGCCCCAGCACCCACACAAGGCAAGGGCCACCCCAGCGTCCTCACACGAGCCACCCCTGTGCAGCCTCAGGGGTTGGAGCCATTTCTCAACACACACACTTCACATCCTCGCTCCTTCCACAGATTCCTGCAGAGGGTGAGCGCTGTGGCCCATCCACAGACAGGGCAATGCCAAAGCCCCAGCGGCCTCCACTCCTCAACAAGGTGGGACCAGGACAAGGGCTGTGCTGGTCCCCGGGGGACACCTGGACTCACCTGGATCAGGCCTGCTGCCGGGTTCCGCCTCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTCAGGGCAAACCCAGACCCCAAGATGCCCTGCAATTCATCAGGGTCAGGTCACACCCCAGGGACCCCCCACACCCCAATTCATCAGGGTCAGACCATGCTCTGGGGCCCCACACCCCCCCCAATTCATCAGGGTCAGACCACACTCCAGAGACTCACACACCCCCCAATTCATCAGGGTCAGACCACGCCCCAGGGACTCACACACCCCCCAGTTCATCAGGGTCAGACCCGTCTCCACCGATCCATGCCTCCCCCACCTTCATCAAGGTCAGACTAATCCAGGAACCCATATCCCCACAATTTGTCAGCATCAAGAGGAAGGAACCCTCTGGCTTGCAGGAGACATGGCAGGACCCACACTGAACTCAGAGTGGCCTCTTTCCCTTCCACACAGAAGAGTCTGCAGGCCCATCTTGAAGGGCACACAGTGAAGGGGACACCGGGGCCAGCCTCTTGCCGTGCACCAGCTGCCCTGCCCTGCCCTGCCCTGGGGCAACAAGGGTTGACAGGGCCCCTCCACCTCCCTCTGAGCTGGGTGGGCCTCACTGCCTAGAGACCCATGAGGGACCTGTGTCACCAGCCGCCCTGCTCCTGGTCACAAGGACCTCCTGCTCAGCCCCACTCAGACTAAGAGGGGCCACCAGTGACTAACAGAGCCCCCTGAAGCTACAGCCGCAGCCTTGGGCATGCTCCTGTCGGGGCTGGGGAACCCCCACTCCAGTCCTTGGGGAACAAGGCCTCTGACCCTGAGCTGCCACCTCCAGCTCCTGGGGGCTGTGGACCTGCTGAGAGCTGCTCCTGCCCCAGGTCCCACCTAGGGAACTGTGCCCAGGGGCCTGTGGTCACCTCGGGAGCCTACAAGACCTCGTCCCCCTCCAAGGCAGGCAGGGGCAGCTGGACTTACTGCAGGCAGCGCGAAGAAGGAGACACCGATGAGGGTGAAGGTTGCCGCAAGGAGCCTGCCGTTCCAGGTCTGGGGGGTACTTGTCCCCGTAGCCAATGGTGGTCAGCGTGATCTGTGGGACCGCAGGCTCTAGTCACACGAAGGGCCTGCTCACACCCCTGAGGGCAGGCTGGACGCCCGCTGGCGACTCGGGGCTTGGGATGGGACAGATGCGGGGCCACCCCCGTGTCACCATCCACACGGAGGCCCAGTGAGGCCAGGGTCGGTGTCGGCCGCCCCTCATCCCCTGAGCCCTCTCTCCTCTTCCCCTACAGGCCAGAAGCGGGGTCCAGCCAAAGGCTGTGTCCCCATCTCACATCGAGAACCAGAGGCCCAGCGACGTGACTCCCACGAGGCTCGGCTAGGACAGCAGCCCCCACTGCATCCCCGCCAGGTGAAGAGTGCAGCTGGGGAGAAGGGAGTGCCCAGAGGGACCCAGAGGAACGGGCAGGGCGTGCAGGGGGCTCGCTGAGCCTGAGCTGAGCTGAGGCCAGAGGAGAGGGGTGGGCAGGAGGAGGCCACCACAAGAGGCGGGGGAGTGGTCTCCACCGAGCCATGGCGGGGTGGGCTGCTCCTGGAGCAGGGACCCCAGGGGTTGTGCTTAGTTTCTCTAGGGGTGGTGGGCAAGGGGGAGGTCAGGCCAGGTTGGACCTCCCCAAGGGTCCCGGTGAGCCCAGGAGCACCCGACTCGGGGCCTGGATGAGGGGAAGCGAAGGACGGACACGTCTCCAAGCAGCTCCGACAAGAGATGCCTGTGCCGGGGCCGAGGAAGGCAGGGGCAGGCACCCTGCACTCAGTGCTGGACATGTTGGGGCCGCAGCCCACCCCCGCCTGCCAGAACCGCACGCACCACAAGCCACGGGCTCAGGACAGCCGCACGGAGGCCACTCTGGCTAGGACCAGAAGGTGGGCCCAGGACAGGCCCTGTGAGGGCAGAGTCTTAGATAAACAGACAGAGGGATCGAGGCCTGAGCGCAGACAGCAGGGCCGGGAAGGGGAGACCTCTCACCAGGACCTGCAGCCCCACCTTGGGGAGTTTACCCTGGGTTCCGAGGACGCTGCTGTGTGGTCTGAGGACAGGGTGGGCCGGCTGGGCCGCACCTGCTCCACACCGACAGGAAGCTGTGGCCTGGTGCAAAGCAGCGCCAGCACCTGGGGGCCTTGGCTGCCACCACCACGCGGAGCGCACAGGAGACTCTGGGAAGGAGGCTGCCACACAGAGTGGGCGGGAGGCTGGGCGAGGCCTGACCAAGAAACCTCTCCTGGGGAGACTAAGCCAGGGCCTCAGCCCTCTACACAATTTCGTTACCAAAGGAGGCGTGGTTTTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGAGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGTGATCCCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTCAAGGAAAAGGAAGCCGGAGGCCTGGCAGATGGGGCCTGGCCTGCGGGGGAGGTGAGGGCGGGGTTCCCCCCACACTGCTGAAAACCCCCAAAGGCTGCAAGAAAGGGAAACTGGGGGTAGATCTCATCCCAGTAGGAGGTACACAGTCAGCGCGTTTGAATCAGGAAATACCAGCATCCCTATTTGCTATTTAAGACTAATCAGGTAAACCCCAAAGAAAAACACAGAAGCAGCCGCATCCGCTGCAGAGGGACCCAGAGGGGAGGGCACCGCGGCCACAGAGTGGGGCTCTATTCTCACCATAAGGCTTAGTAACTCTCTGACATTTAAAAATATACACAAGCATTACTCTGAAAAAACACCCAATCGTAAAGATAAGAAGGCTGTTGCCCACAAAAGACCTGGGGGATGGGCTTGTCCCCATCAAAAGTCCTAGGGCCCAGCAGTCACAGCTCAGGACGCCCCGGGCCCCACCCTGACCCTGTGGTGGGGCCTGAACCACACAAGATGGCTCAGTGAGTCCAGGTCATCTGTATGGTCCACAGCCTGGGCCCCGGGGCACGCTCAG
|
pathogenic
| 316,275 |
A mutation at chromosome position 63445312 on chromosome 20 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts']
|
ATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGACAGCACGAGGCAGGAGAAAACCAGGAGGAACCTGGGGGCAGGGAACGCGCGCTCTCAGACAGGCCGCAGCAGGGCAGCAGCATGGCTGTGTCTCCAGAACTCAGGACCCCACTCCCCACCAGGCCGCAGCAGGGCACCAGCATGGCCGCGTCTCCAGAACGCAGGACCCCACTCCCCACCCACCCCACCAGAGCTCGCTCGGGCCAGAGGGCACCCCCATAGCCACCTCCCGGGACCCTGAACTCCACAGTGGCAGCTGCCCCCTCTATGCGCAGCTGCCCCCTCCAGGACGCACCCCCCTCTCCACTCTGGCCCCTGCCCCTTCTGTCTGGTTTCAGCCTGGCAGCCTCATCCTTTGGCAACGTCTCCAAAACTCTCAGTCAAATGGGAACAGCAAGGCCTGCCCATCAACTGCTACAAACACAGGAACAAGCAAAACCCCTGGGGCAGAAGGCACCGATCAGCCTTCCCCTCTCCTCACTCTCGGCCACCTCCTCCAGACCCCAACGCAGAGGGCTTCTCTCTGCCAGTTAAACCCGGAGCCAAGCAACAG
|
ATCATCACCACCATCACCATCACCATCATCACCACCACCATCACCATCATCACCACCACCACCATCACCATCACCACCATCACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCACCATCACCATCACCACCATCACCATCACCACCATCATCACCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCACCACCACCATCACCATCACCACCACCACGATCACCACCATCACCATCACCACCACCACCACCATGACCATCATGACCATCACCACCACCACCACCATCACTACCACCATCACCACCATCACCCTCACCACCATCACCACCCGCCACCTGCCTCCAGGAGCACTGCAGCCTCGCCAGTCAGCCCACTTTGGGCTCTGTCTCCAGGGATATAGGGGCTGGATGGACCCGTCTCCTGAGGCCAGCAGAGGCTCCACGCCAGGGTCGGTGGCAGGGCTGGCACAGGGGAACCAGGAGGCGCCGCTGGCTTCACCATCTTAGCTACGGCAGCCCATTCCCCTGAGCCTCCTGGCCTGGGCAACAGTGGCTCGCACGGCCAGCCCACCGTGCCCTCCAGGGTCAGTAGCGTCTATTCTGGCGGCCAGCAGGGCTGGAGAATCTTGGGACTGTTGAGACCCTCCCCCAACCTCCCTGAGCCTCCGGGCACAGATGTGAAAAGGGTGCCCACTGCAGTCAGCACTCAACCCCCACAGCGTCCAGGGAGGGAGAGGGGCCACCGGGGGCTGACCCCTGCCCATTCTGCAGACAAAGCCACCACCCTGCCAGGGCTCAAGAGGGAAGAAAATGGGGAGGGGGCCATTTGAGCAAATGAGCCCACCCGTGAGCAAGGTGGAGGGACAGCACAGTCTGGCAGGATGGGGTCTCGGTCACTGGGGGGCCTGGGGCCCCTGGAACTCAGCATGTGTGGCCACAGCCACCCTCTGGGTCCCCCGGACAGCGGCCGCCGCAAGCCGCAGCTTAAACAACCACCAGGCAGGTGACTAGCACTTTGTATTGATCCAGGCACTAAAAACCCAGGAAAGAAGACACCCAACCACAGAGCCAAGGGTTCGCGGCAGGAAGGTGGGGGTGGCAGGGGCCAAAATGGCCTGGCCTGGCCTTTCGAAAAAGCAGCTTTCTGGAGACAGATGACAAAGATGGCCCAAGTCACGAGAAGAAGCACCGAGAAGAAAGGGGAGGGAGGCTCGTTCACACCTGATGGGCTCCAGCCAGAGCCACCACTGACTCCATCCCTCCACCCAGGGCTCTTGAAGCAAACCCCAGGCAGGGGTGGGGCCCGGTCTGGGCCAGGACTCTCGCTGGCTGGGGGCGCCCACCGCCAGCCTTGGGGCCGTGACTCACCTTGCTGTGGGCATAGACCACAGAGCCCAGCAGCTTCCAGGTGCCTCCCCGCCGGTCCATGCGGATCATCCGCAGAATCTGCAGGAAGCGCAGGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGACAGCACGAGGCAGGAGAAAACCAGGAGGAACCTGGGGGCAGGGAACGCGCGCTCTCAGACAGGCCGCAGCAGGGCAGCAGCATGGCTGTGTCTCCAGAACTCAGGACCCCACTCCCCACCAGGCCGCAGCAGGGCACCAGCATGGCCGCGTCTCCAGAACGCAGGACCCCACTCCCCACCCACCCCACCAGAGCTCGCTCGGGCCAGAGGGCACCCCCATAGCCACCTCCCGGGACCCTGAACTCCACAGTGGCAGCTGCCCCCTCTATGCGCAGCTGCCCCCTCCAGGACGCACCCCCCTCTCCACTCTGGCCCCTGCCCCTTCTGTCTGGTTTCAGCCTGGCAGCCTCATCCTTTGGCAACGTCTCCAAAACTCTCAGTCAAATGGGAACAGCAAGGCCTGCCCATCAACTGCTACAAACACAGGAACAAGCAAAACCCCTGGGGCAGAAGGCACCGATCAGCCTTCCCCTCTCCTCACTCTCGGCCACCTCCTCCAGACCCCAACGCAGAGGGCTTCTCTCTGCCAGTTAAACCCGGAGCCAAGCAACAGN
|
pathogenic
| 316,365 |
Is the genetic change at chromosome 20, position 63446799, within gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Seizures,_benign_familial_neonatal,_1']
|
GGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGACAGCACGAGGCAGGAGAAAACCAGGAGGAACCTGGGGGCAGGGAACGCGCGCTCTCAGACAGGCCGCAGCAGGGCAGCAGCATGGCTGTGTCTCCAGAACTCAGGACCCCACTCCCCACCAGGCCGCAGCAGGGCACCAGCATGGCCGCGTCTCCAGAACGCAGGACCCCACTCCCCACCCACCCCACCAGAGCTCGCTCGGGCCAGAGGGCACCCCCATAGCCACCTCCCGGGACCCTGAACTCCACAGTGGCAGCTGCCCCCTCTATGCGCAGCTGCCCCCTCCAGGACGCACCCCCCTCTCCACTCTGGCCCCTGCCCCTTCTGTCTGGTTTCAGCCTGGCAGCCTCATCCTTTGGCAACGTCTCCAAAACTCTCAGTCAAATGGGAACAGCAAGGCCTGCCCATCAACTGCTACAAACACAGGAACAAGCAAAACCCCTGGGGCAGAAGGCACCGATCAGCCTTCCCCTCTCCTCACTCTCGGCCACCTCCTCCAGACCCCAACGCAGAGGGCTTCTCTCTGCCAGTTAAACCCGGAGCCAAGCAACAGGAGCTCCTCGGATCACCTTCTTTCCAGCCTCGTCCTGGCTGCCAGGAGGCTCCGTTTCTCCTTCCTCCCGGGTTGCAGGCACCTCCTCCCGCCAGTGACTTCCACCATGATTGCTCTTCCCATTCACGTCCCACGCGATTACCTCACTCACTGATCCTTCTTCAATTTCCCCTCAGATGCTCAAGTTCACACCCCACCAAAATTCCCCCAAATGCATGTGGGTATTTTTGTTTTTGTTTGTTTTGTTTTGTTTTGAGATACAGTTTCACTTGTCGCGCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCGCTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCCGCCTCAGCCTCCAGAGTTGCTGGGATTACAGGCATGTGCCACCACACCAGGCTAATTTTTGTATTTTTTTAGTGGAGATGGGGTTTCATCACATTGGCCAGGCTAGTCTCGAACACCTGGGCTCAAGTGATGCTCCCGCCTCGGCCCCCCAAAGGGCTGGGATTACAGTCATGAGCTACCATGCTCGGCCCAAATGCGTGACTTTTTCTCAGCCCTGCATTCTCCTCTGATACAAGCGACTCTGCTACACTTGCTCCCTTGCCCACCCCAGGAAGCTGCAGACAGGAGGAGCCCGCTAGCCCCCGAAGACCCTGCCGCGGGAACCCGGCTTGTGGCTGCAACAAGGCCACCCACATAGAAGAGACATAGAAGATCTCCCAGCTCTTCCTGGGAGCAAAGCTGTGCAACCCAGAGCCTCAAGCTGCCGCTTTGGCAGGAAAGCCAACTCCCGCGTGCTGAAGTCACTGAATGCACACCAGAGAGAAACCCACTTCGCAGGAAGCAAATGCTTTGTCTCATTTACATTTTTCGCAGGTGTTCTGGGATGTGAAGGGGACGTGTCCAACGTCCAGGTCCTTCGTCACAGCCATAAAGGAGGCCATGCGTGGGACACGCCCTCATTCCAGGCAATGTGAGAGACGCCTTCACCTTGACCGTGTTGCTGCCTCTCGTTCCAACCGTGCTCAGAACCAGGAGCCGGCGGGGACGGAGCCACAGAGCAGCCGCTTCCCCGTGTCCGCGCCCCTGTACTGTCTTCACACTCGCCATCACCTTGCACACCCTGCGGCACCACACGACCGCCACGGAGCCTGTGGGGCCCTCCTGTGTCTCAAACCCGAGCCCTTCCCCGGCGCCCACATCCAGGTGGGTGTCAAGGGAGGGAGATTCCCCACACTCAGGATCTCCTTCCCTCTGTCCCCAAAGCAGTGCTGCAGTCCAGCCTGGGTTCCGGGCAGTGTCCCCGCTCCCCTCTCCCCACTCCCACAGAGGAAATATTCCCTGGATGCCCCGACCTGCAGGGCCGAGACTGGGCACAGGCACGGGCATCCTGGGGGAAGTCCCTCCAGCCCGGATACGCCCACCCCTGACCTGCTGGGCCGGGGCACTGGCCACAGGCATGGGCATCCTGGGGGGGAGTCT
|
GGCTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACAGACAGCACGAGGCAGGAGAAAACCAGGAGGAACCTGGGGGCAGGGAACGCGCGCTCTCAGACAGGCCGCAGCAGGGCAGCAGCATGGCTGTGTCTCCAGAACTCAGGACCCCACTCCCCACCAGGCCGCAGCAGGGCACCAGCATGGCCGCGTCTCCAGAACGCAGGACCCCACTCCCCACCCACCCCACCAGAGCTCGCTCGGGCCAGAGGGCACCCCCATAGCCACCTCCCGGGACCCTGAACTCCACAGTGGCAGCTGCCCCCTCTATGCGCAGCTGCCCCCTCCAGGACGCACCCCCCTCTCCACTCTGGCCCCTGCCCCTTCTGTCTGGTTTCAGCCTGGCAGCCTCATCCTTTGGCAACGTCTCCAAAACTCTCAGTCAAATGGGAACAGCAAGGCCTGCCCATCAACTGCTACAAACACAGGAACAAGCAAAACCCCTGGGGCAGAAGGCACCGATCAGCCTTCCCCTCTCCTCACTCTCGGCCACCTCCTCCAGACCCCAACGCAGAGGGCTTCTCTCTGCCAGTTAAACCCGGAGCCAAGCAACAGGAGCTCCTCGGATCACCTTCTTTCCAGCCTCGTCCTGGCTGCCAGGAGGCTCCGTTTCTCCTTCCTCCCGGGTTGCAGGCACCTCCTCCCGCCAGTGACTTCCACCATGATTGCTCTTCCCATTCACGTCCCACGCGATTACCTCACTCACTGATCCTTCTTCAATTTCCCCTCAGATGCTCAAGTTCACACCCCACCAAAATTCCCCCAAATGCATGTGGGTATTTTTGTTTTTGTTTGTTTTGTTTTGTTTTGAGATACAGTTTCACTTGTCGCGCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCGCTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCCGCCTCAGCCTCCAGAGTTGCTGGGATTACAGGCATGTGCCACCACACCAGGCTAATTTTTGTATTTTTTTAGTGGAGATGGGGTTTCATCACATTGGCCAGGCTAGTCTCGAACACCTGGGCTCAAGTGATGCTCCCGCCTCGGCCCCCCAAAGGGCTGGGATTACAGTCATGAGCTACCATGCTCGGCCCAAATGCGTGACTTTTTCTCAGCCCTGCATTCTCCTCTGATACAAGCGACTCTGCTACACTTGCTCCCTTGCCCACCCCAGGAAGCTGCAGACAGGAGGAGCCCGCTAGCCCCCGAAGACCCTGCCGCGGGAACCCGGCTTGTGGCTGCAACAAGGCCACCCACATAGAAGAGACATAGAAGATCTCCCAGCTCTTCCTGGGAGCAAAGCTGTGCAACCCAGAGCCTCAAGCTGCCGCTTTGGCAGGAAAGCCAACTCCCGCGTGCTGAAGTCACTGAATGCACACCAGAGAGAAACCCACTTCGCAGGAAGCAAATGCTTTGTCTCATTTACATTTTTCGCAGGTGTTCTGGGATGTGAAGGGGACGTGTCCAACGTCCAGGTCCTTCGTCACAGCCATAAAGGAGGCCATGCGTGGGACACGCCCTCATTCCAGGCAATGTGAGAGACGCCTTCACCTTGACCGTGTTGCTGCCTCTCGTTCCAACCGTGCTCAGAACCAGGAGCCGGCGGGGACGGAGCCACAGAGCAGCCGCTTCCCCGTGTCCGCGCCCCTGTACTGTCTTCACACTCGCCATCACCTTGCACACCCTGCGGCACCACACGACCGCCACGGAGCCTGTGGGGCCCTCCTGTGTCTCAAACCCGAGCCCTTCCCCGGCGCCCACATCCAGGTGGGTGTCAAGGGAGGGAGATTCCCCACACTCAGGATCTCCTTCCCTCTGTCCCCAAAGCAGTGCTGCAGTCCAGCCTGGGTTCCGGGCAGTGTCCCCGCTCCCCTCTCCCCACTCCCACAGAGGAAATATTCCCTGGATGCCCCGACCTGCAGGGCCGAGACTGGGCACAGGCACGGGCATCCTGGGGGAAGTCCCTCCAGCCCGGATACGCCCACCCCTGACCTGCTGGGCCGGGGCACTGGCCACAGGCATGGGCATCCTGGGGGGGAGTCTNN
|
pathogenic
| 316,381 |
Does the variant on chromosome 20 at location 63446801 affecting gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts']
|
CTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGACAGCACGAGGCAGGAGAAAACCAGGAGGAACCTGGGGGCAGGGAACGCGCGCTCTCAGACAGGCCGCAGCAGGGCAGCAGCATGGCTGTGTCTCCAGAACTCAGGACCCCACTCCCCACCAGGCCGCAGCAGGGCACCAGCATGGCCGCGTCTCCAGAACGCAGGACCCCACTCCCCACCCACCCCACCAGAGCTCGCTCGGGCCAGAGGGCACCCCCATAGCCACCTCCCGGGACCCTGAACTCCACAGTGGCAGCTGCCCCCTCTATGCGCAGCTGCCCCCTCCAGGACGCACCCCCCTCTCCACTCTGGCCCCTGCCCCTTCTGTCTGGTTTCAGCCTGGCAGCCTCATCCTTTGGCAACGTCTCCAAAACTCTCAGTCAAATGGGAACAGCAAGGCCTGCCCATCAACTGCTACAAACACAGGAACAAGCAAAACCCCTGGGGCAGAAGGCACCGATCAGCCTTCCCCTCTCCTCACTCTCGGCCACCTCCTCCAGACCCCAACGCAGAGGGCTTCTCTCTGCCAGTTAAACCCGGAGCCAAGCAACAGGAGCTCCTCGGATCACCTTCTTTCCAGCCTCGTCCTGGCTGCCAGGAGGCTCCGTTTCTCCTTCCTCCCGGGTTGCAGGCACCTCCTCCCGCCAGTGACTTCCACCATGATTGCTCTTCCCATTCACGTCCCACGCGATTACCTCACTCACTGATCCTTCTTCAATTTCCCCTCAGATGCTCAAGTTCACACCCCACCAAAATTCCCCCAAATGCATGTGGGTATTTTTGTTTTTGTTTGTTTTGTTTTGTTTTGAGATACAGTTTCACTTGTCGCGCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCGCTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCCGCCTCAGCCTCCAGAGTTGCTGGGATTACAGGCATGTGCCACCACACCAGGCTAATTTTTGTATTTTTTTAGTGGAGATGGGGTTTCATCACATTGGCCAGGCTAGTCTCGAACACCTGGGCTCAAGTGATGCTCCCGCCTCGGCCCCCCAAAGGGCTGGGATTACAGTCATGAGCTACCATGCTCGGCCCAAATGCGTGACTTTTTCTCAGCCCTGCATTCTCCTCTGATACAAGCGACTCTGCTACACTTGCTCCCTTGCCCACCCCAGGAAGCTGCAGACAGGAGGAGCCCGCTAGCCCCCGAAGACCCTGCCGCGGGAACCCGGCTTGTGGCTGCAACAAGGCCACCCACATAGAAGAGACATAGAAGATCTCCCAGCTCTTCCTGGGAGCAAAGCTGTGCAACCCAGAGCCTCAAGCTGCCGCTTTGGCAGGAAAGCCAACTCCCGCGTGCTGAAGTCACTGAATGCACACCAGAGAGAAACCCACTTCGCAGGAAGCAAATGCTTTGTCTCATTTACATTTTTCGCAGGTGTTCTGGGATGTGAAGGGGACGTGTCCAACGTCCAGGTCCTTCGTCACAGCCATAAAGGAGGCCATGCGTGGGACACGCCCTCATTCCAGGCAATGTGAGAGACGCCTTCACCTTGACCGTGTTGCTGCCTCTCGTTCCAACCGTGCTCAGAACCAGGAGCCGGCGGGGACGGAGCCACAGAGCAGCCGCTTCCCCGTGTCCGCGCCCCTGTACTGTCTTCACACTCGCCATCACCTTGCACACCCTGCGGCACCACACGACCGCCACGGAGCCTGTGGGGCCCTCCTGTGTCTCAAACCCGAGCCCTTCCCCGGCGCCCACATCCAGGTGGGTGTCAAGGGAGGGAGATTCCCCACACTCAGGATCTCCTTCCCTCTGTCCCCAAAGCAGTGCTGCAGTCCAGCCTGGGTTCCGGGCAGTGTCCCCGCTCCCCTCTCCCCACTCCCACAGAGGAAATATTCCCTGGATGCCCCGACCTGCAGGGCCGAGACTGGGCACAGGCACGGGCATCCTGGGGGAAGTCCCTCCAGCCCGGATACGCCCACCCCTGACCTGCTGGGCCGGGGCACTGGCCACAGGCATGGGCATCCTGGGGGGGAGTCTCT
|
CTCCGGAGCGCAGATGTGGCAAAGACGTTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGCACGAGGCAGGAGAAAACCAGGAGGAACCTGGGGGCAGGGAACGCGCGCTCTCAGACAGGCCGCAGCAGGGCAGCAGCATGGCTGTGTCTCCAGAACTCAGGACCCCACTCCCCACCAGGCCGCAGCAGGGCACCAGCATGGCCGCGTCTCCAGAACGCAGGACCCCACTCCCCACCCACCCCACCAGAGCTCGCTCGGGCCAGAGGGCACCCCCATAGCCACCTCCCGGGACCCTGAACTCCACAGTGGCAGCTGCCCCCTCTATGCGCAGCTGCCCCCTCCAGGACGCACCCCCCTCTCCACTCTGGCCCCTGCCCCTTCTGTCTGGTTTCAGCCTGGCAGCCTCATCCTTTGGCAACGTCTCCAAAACTCTCAGTCAAATGGGAACAGCAAGGCCTGCCCATCAACTGCTACAAACACAGGAACAAGCAAAACCCCTGGGGCAGAAGGCACCGATCAGCCTTCCCCTCTCCTCACTCTCGGCCACCTCCTCCAGACCCCAACGCAGAGGGCTTCTCTCTGCCAGTTAAACCCGGAGCCAAGCAACAGGAGCTCCTCGGATCACCTTCTTTCCAGCCTCGTCCTGGCTGCCAGGAGGCTCCGTTTCTCCTTCCTCCCGGGTTGCAGGCACCTCCTCCCGCCAGTGACTTCCACCATGATTGCTCTTCCCATTCACGTCCCACGCGATTACCTCACTCACTGATCCTTCTTCAATTTCCCCTCAGATGCTCAAGTTCACACCCCACCAAAATTCCCCCAAATGCATGTGGGTATTTTTGTTTTTGTTTGTTTTGTTTTGTTTTGAGATACAGTTTCACTTGTCGCGCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCGCTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCCGCCTCAGCCTCCAGAGTTGCTGGGATTACAGGCATGTGCCACCACACCAGGCTAATTTTTGTATTTTTTTAGTGGAGATGGGGTTTCATCACATTGGCCAGGCTAGTCTCGAACACCTGGGCTCAAGTGATGCTCCCGCCTCGGCCCCCCAAAGGGCTGGGATTACAGTCATGAGCTACCATGCTCGGCCCAAATGCGTGACTTTTTCTCAGCCCTGCATTCTCCTCTGATACAAGCGACTCTGCTACACTTGCTCCCTTGCCCACCCCAGGAAGCTGCAGACAGGAGGAGCCCGCTAGCCCCCGAAGACCCTGCCGCGGGAACCCGGCTTGTGGCTGCAACAAGGCCACCCACATAGAAGAGACATAGAAGATCTCCCAGCTCTTCCTGGGAGCAAAGCTGTGCAACCCAGAGCCTCAAGCTGCCGCTTTGGCAGGAAAGCCAACTCCCGCGTGCTGAAGTCACTGAATGCACACCAGAGAGAAACCCACTTCGCAGGAAGCAAATGCTTTGTCTCATTTACATTTTTCGCAGGTGTTCTGGGATGTGAAGGGGACGTGTCCAACGTCCAGGTCCTTCGTCACAGCCATAAAGGAGGCCATGCGTGGGACACGCCCTCATTCCAGGCAATGTGAGAGACGCCTTCACCTTGACCGTGTTGCTGCCTCTCGTTCCAACCGTGCTCAGAACCAGGAGCCGGCGGGGACGGAGCCACAGAGCAGCCGCTTCCCCGTGTCCGCGCCCCTGTACTGTCTTCACACTCGCCATCACCTTGCACACCCTGCGGCACCACACGACCGCCACGGAGCCTGTGGGGCCCTCCTGTGTCTCAAACCCGAGCCCTTCCCCGGCGCCCACATCCAGGTGGGTGTCAAGGGAGGGAGATTCCCCACACTCAGGATCTCCTTCCCTCTGTCCCCAAAGCAGTGCTGCAGTCCAGCCTGGGTTCCGGGCAGTGTCCCCGCTCCCCTCTCCCCACTCCCACAGAGGAAATATTCCCTGGATGCCCCGACCTGCAGGGCCGAGACTGGGCACAGGCACGGGCATCCTGGGGGAAGTCCCTCCAGCCCGGATACGCCCACCCCTGACCTGCTGGGCCGGGGCACTGGCCACAGGCATGGGCATCCTGGGGGGGAGTCTCTNNNN
|
pathogenic
| 316,382 |
The genetic variant at chromosome 20, position 63446828, affecting gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts']
|
TTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGACAGCACGAGGCAGGAGAAAACCAGGAGGAACCTGGGGGCAGGGAACGCGCGCTCTCAGACAGGCCGCAGCAGGGCAGCAGCATGGCTGTGTCTCCAGAACTCAGGACCCCACTCCCCACCAGGCCGCAGCAGGGCACCAGCATGGCCGCGTCTCCAGAACGCAGGACCCCACTCCCCACCCACCCCACCAGAGCTCGCTCGGGCCAGAGGGCACCCCCATAGCCACCTCCCGGGACCCTGAACTCCACAGTGGCAGCTGCCCCCTCTATGCGCAGCTGCCCCCTCCAGGACGCACCCCCCTCTCCACTCTGGCCCCTGCCCCTTCTGTCTGGTTTCAGCCTGGCAGCCTCATCCTTTGGCAACGTCTCCAAAACTCTCAGTCAAATGGGAACAGCAAGGCCTGCCCATCAACTGCTACAAACACAGGAACAAGCAAAACCCCTGGGGCAGAAGGCACCGATCAGCCTTCCCCTCTCCTCACTCTCGGCCACCTCCTCCAGACCCCAACGCAGAGGGCTTCTCTCTGCCAGTTAAACCCGGAGCCAAGCAACAGGAGCTCCTCGGATCACCTTCTTTCCAGCCTCGTCCTGGCTGCCAGGAGGCTCCGTTTCTCCTTCCTCCCGGGTTGCAGGCACCTCCTCCCGCCAGTGACTTCCACCATGATTGCTCTTCCCATTCACGTCCCACGCGATTACCTCACTCACTGATCCTTCTTCAATTTCCCCTCAGATGCTCAAGTTCACACCCCACCAAAATTCCCCCAAATGCATGTGGGTATTTTTGTTTTTGTTTGTTTTGTTTTGTTTTGAGATACAGTTTCACTTGTCGCGCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCGCTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCCGCCTCAGCCTCCAGAGTTGCTGGGATTACAGGCATGTGCCACCACACCAGGCTAATTTTTGTATTTTTTTAGTGGAGATGGGGTTTCATCACATTGGCCAGGCTAGTCTCGAACACCTGGGCTCAAGTGATGCTCCCGCCTCGGCCCCCCAAAGGGCTGGGATTACAGTCATGAGCTACCATGCTCGGCCCAAATGCGTGACTTTTTCTCAGCCCTGCATTCTCCTCTGATACAAGCGACTCTGCTACACTTGCTCCCTTGCCCACCCCAGGAAGCTGCAGACAGGAGGAGCCCGCTAGCCCCCGAAGACCCTGCCGCGGGAACCCGGCTTGTGGCTGCAACAAGGCCACCCACATAGAAGAGACATAGAAGATCTCCCAGCTCTTCCTGGGAGCAAAGCTGTGCAACCCAGAGCCTCAAGCTGCCGCTTTGGCAGGAAAGCCAACTCCCGCGTGCTGAAGTCACTGAATGCACACCAGAGAGAAACCCACTTCGCAGGAAGCAAATGCTTTGTCTCATTTACATTTTTCGCAGGTGTTCTGGGATGTGAAGGGGACGTGTCCAACGTCCAGGTCCTTCGTCACAGCCATAAAGGAGGCCATGCGTGGGACACGCCCTCATTCCAGGCAATGTGAGAGACGCCTTCACCTTGACCGTGTTGCTGCCTCTCGTTCCAACCGTGCTCAGAACCAGGAGCCGGCGGGGACGGAGCCACAGAGCAGCCGCTTCCCCGTGTCCGCGCCCCTGTACTGTCTTCACACTCGCCATCACCTTGCACACCCTGCGGCACCACACGACCGCCACGGAGCCTGTGGGGCCCTCCTGTGTCTCAAACCCGAGCCCTTCCCCGGCGCCCACATCCAGGTGGGTGTCAAGGGAGGGAGATTCCCCACACTCAGGATCTCCTTCCCTCTGTCCCCAAAGCAGTGCTGCAGTCCAGCCTGGGTTCCGGGCAGTGTCCCCGCTCCCCTCTCCCCACTCCCACAGAGGAAATATTCCCTGGATGCCCCGACCTGCAGGGCCGAGACTGGGCACAGGCACGGGCATCCTGGGGGAAGTCCCTCCAGCCCGGATACGCCCACCCCTGACCTGCTGGGCCGGGGCACTGGCCACAGGCATGGGCATCCTGGGGGGGAGTCTCTCCAGACTGGTCACGCCCCCTCATCATT
|
TTGCCCTGGGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGACAGCACGAGGCAGGAGAAAACCAGGAACCTGGGGGCAGGGAACGCGCGCTCTCAGACAGGCCGCAGCAGGGCAGCAGCATGGCTGTGTCTCCAGAACTCAGGACCCCACTCCCCACCAGGCCGCAGCAGGGCACCAGCATGGCCGCGTCTCCAGAACGCAGGACCCCACTCCCCACCCACCCCACCAGAGCTCGCTCGGGCCAGAGGGCACCCCCATAGCCACCTCCCGGGACCCTGAACTCCACAGTGGCAGCTGCCCCCTCTATGCGCAGCTGCCCCCTCCAGGACGCACCCCCCTCTCCACTCTGGCCCCTGCCCCTTCTGTCTGGTTTCAGCCTGGCAGCCTCATCCTTTGGCAACGTCTCCAAAACTCTCAGTCAAATGGGAACAGCAAGGCCTGCCCATCAACTGCTACAAACACAGGAACAAGCAAAACCCCTGGGGCAGAAGGCACCGATCAGCCTTCCCCTCTCCTCACTCTCGGCCACCTCCTCCAGACCCCAACGCAGAGGGCTTCTCTCTGCCAGTTAAACCCGGAGCCAAGCAACAGGAGCTCCTCGGATCACCTTCTTTCCAGCCTCGTCCTGGCTGCCAGGAGGCTCCGTTTCTCCTTCCTCCCGGGTTGCAGGCACCTCCTCCCGCCAGTGACTTCCACCATGATTGCTCTTCCCATTCACGTCCCACGCGATTACCTCACTCACTGATCCTTCTTCAATTTCCCCTCAGATGCTCAAGTTCACACCCCACCAAAATTCCCCCAAATGCATGTGGGTATTTTTGTTTTTGTTTGTTTTGTTTTGTTTTGAGATACAGTTTCACTTGTCGCGCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCGCTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCCGCCTCAGCCTCCAGAGTTGCTGGGATTACAGGCATGTGCCACCACACCAGGCTAATTTTTGTATTTTTTTAGTGGAGATGGGGTTTCATCACATTGGCCAGGCTAGTCTCGAACACCTGGGCTCAAGTGATGCTCCCGCCTCGGCCCCCCAAAGGGCTGGGATTACAGTCATGAGCTACCATGCTCGGCCCAAATGCGTGACTTTTTCTCAGCCCTGCATTCTCCTCTGATACAAGCGACTCTGCTACACTTGCTCCCTTGCCCACCCCAGGAAGCTGCAGACAGGAGGAGCCCGCTAGCCCCCGAAGACCCTGCCGCGGGAACCCGGCTTGTGGCTGCAACAAGGCCACCCACATAGAAGAGACATAGAAGATCTCCCAGCTCTTCCTGGGAGCAAAGCTGTGCAACCCAGAGCCTCAAGCTGCCGCTTTGGCAGGAAAGCCAACTCCCGCGTGCTGAAGTCACTGAATGCACACCAGAGAGAAACCCACTTCGCAGGAAGCAAATGCTTTGTCTCATTTACATTTTTCGCAGGTGTTCTGGGATGTGAAGGGGACGTGTCCAACGTCCAGGTCCTTCGTCACAGCCATAAAGGAGGCCATGCGTGGGACACGCCCTCATTCCAGGCAATGTGAGAGACGCCTTCACCTTGACCGTGTTGCTGCCTCTCGTTCCAACCGTGCTCAGAACCAGGAGCCGGCGGGGACGGAGCCACAGAGCAGCCGCTTCCCCGTGTCCGCGCCCCTGTACTGTCTTCACACTCGCCATCACCTTGCACACCCTGCGGCACCACACGACCGCCACGGAGCCTGTGGGGCCCTCCTGTGTCTCAAACCCGAGCCCTTCCCCGGCGCCCACATCCAGGTGGGTGTCAAGGGAGGGAGATTCCCCACACTCAGGATCTCCTTCCCTCTGTCCCCAAAGCAGTGCTGCAGTCCAGCCTGGGTTCCGGGCAGTGTCCCCGCTCCCCTCTCCCCACTCCCACAGAGGAAATATTCCCTGGATGCCCCGACCTGCAGGGCCGAGACTGGGCACAGGCACGGGCATCCTGGGGGAAGTCCCTCCAGCCCGGATACGCCCACCCCTGACCTGCTGGGCCGGGGCACTGGCCACAGGCATGGGCATCCTGGGGGGGAGTCTCTCCAGACTGGTCACGCCCCCTCATCATTNNN
|
pathogenic
| 316,385 |
Mutation at chromosome 20, position 63446836, within KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic
|
GGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGACAGCACGAGGCAGGAGAAAACCAGGAGGAACCTGGGGGCAGGGAACGCGCGCTCTCAGACAGGCCGCAGCAGGGCAGCAGCATGGCTGTGTCTCCAGAACTCAGGACCCCACTCCCCACCAGGCCGCAGCAGGGCACCAGCATGGCCGCGTCTCCAGAACGCAGGACCCCACTCCCCACCCACCCCACCAGAGCTCGCTCGGGCCAGAGGGCACCCCCATAGCCACCTCCCGGGACCCTGAACTCCACAGTGGCAGCTGCCCCCTCTATGCGCAGCTGCCCCCTCCAGGACGCACCCCCCTCTCCACTCTGGCCCCTGCCCCTTCTGTCTGGTTTCAGCCTGGCAGCCTCATCCTTTGGCAACGTCTCCAAAACTCTCAGTCAAATGGGAACAGCAAGGCCTGCCCATCAACTGCTACAAACACAGGAACAAGCAAAACCCCTGGGGCAGAAGGCACCGATCAGCCTTCCCCTCTCCTCACTCTCGGCCACCTCCTCCAGACCCCAACGCAGAGGGCTTCTCTCTGCCAGTTAAACCCGGAGCCAAGCAACAGGAGCTCCTCGGATCACCTTCTTTCCAGCCTCGTCCTGGCTGCCAGGAGGCTCCGTTTCTCCTTCCTCCCGGGTTGCAGGCACCTCCTCCCGCCAGTGACTTCCACCATGATTGCTCTTCCCATTCACGTCCCACGCGATTACCTCACTCACTGATCCTTCTTCAATTTCCCCTCAGATGCTCAAGTTCACACCCCACCAAAATTCCCCCAAATGCATGTGGGTATTTTTGTTTTTGTTTGTTTTGTTTTGTTTTGAGATACAGTTTCACTTGTCGCGCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCGCTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCCGCCTCAGCCTCCAGAGTTGCTGGGATTACAGGCATGTGCCACCACACCAGGCTAATTTTTGTATTTTTTTAGTGGAGATGGGGTTTCATCACATTGGCCAGGCTAGTCTCGAACACCTGGGCTCAAGTGATGCTCCCGCCTCGGCCCCCCAAAGGGCTGGGATTACAGTCATGAGCTACCATGCTCGGCCCAAATGCGTGACTTTTTCTCAGCCCTGCATTCTCCTCTGATACAAGCGACTCTGCTACACTTGCTCCCTTGCCCACCCCAGGAAGCTGCAGACAGGAGGAGCCCGCTAGCCCCCGAAGACCCTGCCGCGGGAACCCGGCTTGTGGCTGCAACAAGGCCACCCACATAGAAGAGACATAGAAGATCTCCCAGCTCTTCCTGGGAGCAAAGCTGTGCAACCCAGAGCCTCAAGCTGCCGCTTTGGCAGGAAAGCCAACTCCCGCGTGCTGAAGTCACTGAATGCACACCAGAGAGAAACCCACTTCGCAGGAAGCAAATGCTTTGTCTCATTTACATTTTTCGCAGGTGTTCTGGGATGTGAAGGGGACGTGTCCAACGTCCAGGTCCTTCGTCACAGCCATAAAGGAGGCCATGCGTGGGACACGCCCTCATTCCAGGCAATGTGAGAGACGCCTTCACCTTGACCGTGTTGCTGCCTCTCGTTCCAACCGTGCTCAGAACCAGGAGCCGGCGGGGACGGAGCCACAGAGCAGCCGCTTCCCCGTGTCCGCGCCCCTGTACTGTCTTCACACTCGCCATCACCTTGCACACCCTGCGGCACCACACGACCGCCACGGAGCCTGTGGGGCCCTCCTGTGTCTCAAACCCGAGCCCTTCCCCGGCGCCCACATCCAGGTGGGTGTCAAGGGAGGGAGATTCCCCACACTCAGGATCTCCTTCCCTCTGTCCCCAAAGCAGTGCTGCAGTCCAGCCTGGGTTCCGGGCAGTGTCCCCGCTCCCCTCTCCCCACTCCCACAGAGGAAATATTCCCTGGATGCCCCGACCTGCAGGGCCGAGACTGGGCACAGGCACGGGCATCCTGGGGGAAGTCCCTCCAGCCCGGATACGCCCACCCCTGACCTGCTGGGCCGGGGCACTGGCCACAGGCATGGGCATCCTGGGGGGGAGTCTCTCCAGACTGGTCACGCCCCCTCATCATTGGAGCTTC
|
GGAGCCGGCGGCCAGCACCGCAATGGAGGCGATGAGCACCATGATGTCTACAAAGCGGGCGTGGAGCTGGTGAGCTGCTGGGCCGCTCCCCGCACCCCCTTGGAGAAAACTCCCCACCCCGCGTTCCAGGAGGATGTGCAGAGGGGCGGGAAGGTGTATGCCCAGCGCCTGGTGTGGGCTCTGTCAGGCCCCAGGAAGGACATTACTATCGTCCACCCTGCCTGTGGGGCCCAGGATGGGCAGCCCAGCGCCACATTCCTCTTCCTGACATTTAGGCAGAGTTAACCACAGCCTCTGACTCCAAGTCAGCAGGTGAAAAGAAACTTCCAGAAGGAGCCAGTCCTGCCCAGCCTCTCTGGCCCACGCAGACGCCCCAGCTCCCCCCAGGGCTGAGTCCGTCCCTGGGTGCCTGGCCCTGATTCTAGCAATACCACCCCCACCAGGCCTCACCAATCACACAGAACGGTTTCCGGGCAAACTTGAGCCGCCCCCTCCAGCCACGGTACCGGCAGCAGCAGCCTGCGGCCCAGATCCGCACGAAGTACTCCACGCCAAACACCACGATAGTCACGATTTCCTGCAGGGGAGGAAAGCTGAGGCCACCTTGAGGCCTGGGGGAGGGCCTGGGGGCCCAGCCTGGACACCCACAGGAGCAGTTCTGGCCCAGGGACCAAGCCACAGGGCAGGAGGCCCCCAAAGGAAACTGCAAGCTGACCCCCCCACCCCTCTCCAGCCTCTGGGCAGGAAGGGTTGGGCCCTCTGGAGACCCTGCATCCGGGAACACAGCTGAGCATGAACACCATGGGGCCACCCTCCCCACCTCCCTGTCTGAGCTGGGGACTCTATCTGGGCTAGGGGACCATGTCTGAGCTGGCAGGGCTGCCCTGTCTGAGCTAGGGGGTTCTATCTGGGCTAGGGAACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGAGGCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGGGGACCCTGTCTGAGCTGGTTGGGGAGCTGCCCTGTCCAAGCTGGGGGACTCTATCTGAGTTGGGGGCCCCTGTCTGAGCTGGGGGACCCTGTCTGAGCCAGTGGGGGACCTGCCTTGAGTTGGGGGGTGCACAGCAGGGCTGAGCTGAGGGAAGGCCCCAGGTAACTGCAAAGGGGGCCACAGTCTCCACCCAGACCTTGGGAAGCCCCAGAACAGAGGAGCAGGGCGGGCAGTAGAGGGAGGTGCATTTGGATGGGGACCAGTCTCCTTGAGGGCCCCCCACCCCGTTACCAACAGCAACACAGGAACTGCACTCCCGTTGCCATGGCGCCCACCCTGCCCTGGCACAGGGTTGCTGCAAGCGTCACAGCCCCCACCCCGACGCCCACGTCTGCCGTCTGCTGGGGACGCCCCACATCTCCGGCTCCAGAGATAAAGTGGGGATGGGAAAGGGAGGGTGGCCCACCCAGGGTGGGGGCGATGGAGGCGGGGCTGTCAGCCACTGTGAGGTCACCAGGAGGGGTGAGGTGAGGGCTGAGTTACAGCCAGGGTGGGGCTGGGGCATAGCCCGGGCTGTGGGGCTGGGGGCAGATGGGAACTGACAGGGCACAAAGACATGGCCAGAGCTGGGGCTGGGGGCGTCAGAGGCCCTGTAGTAACAGGAACGGAAGACAGACGCCCAGGCAGCTCCAGCTCCTTCCTGGGCACTTCCAGCCCCCGCCCTCCCTCGGGGCTCACCAGGATGTAGAGGGCCCCCTCCGAGCTCTTCTCATACTCCTTGATGGTGGAAAACACAGACAGCACGAGGCAGGAGAAAACCAGGAGGAACTGGGGGCAGGGAACGCGCGCTCTCAGACAGGCCGCAGCAGGGCAGCAGCATGGCTGTGTCTCCAGAACTCAGGACCCCACTCCCCACCAGGCCGCAGCAGGGCACCAGCATGGCCGCGTCTCCAGAACGCAGGACCCCACTCCCCACCCACCCCACCAGAGCTCGCTCGGGCCAGAGGGCACCCCCATAGCCACCTCCCGGGACCCTGAACTCCACAGTGGCAGCTGCCCCCTCTATGCGCAGCTGCCCCCTCCAGGACGCACCCCCCTCTCCACTCTGGCCCCTGCCCCTTCTGTCTGGTTTCAGCCTGGCAGCCTCATCCTTTGGCAACGTCTCCAAAACTCTCAGTCAAATGGGAACAGCAAGGCCTGCCCATCAACTGCTACAAACACAGGAACAAGCAAAACCCCTGGGGCAGAAGGCACCGATCAGCCTTCCCCTCTCCTCACTCTCGGCCACCTCCTCCAGACCCCAACGCAGAGGGCTTCTCTCTGCCAGTTAAACCCGGAGCCAAGCAACAGGAGCTCCTCGGATCACCTTCTTTCCAGCCTCGTCCTGGCTGCCAGGAGGCTCCGTTTCTCCTTCCTCCCGGGTTGCAGGCACCTCCTCCCGCCAGTGACTTCCACCATGATTGCTCTTCCCATTCACGTCCCACGCGATTACCTCACTCACTGATCCTTCTTCAATTTCCCCTCAGATGCTCAAGTTCACACCCCACCAAAATTCCCCCAAATGCATGTGGGTATTTTTGTTTTTGTTTGTTTTGTTTTGTTTTGAGATACAGTTTCACTTGTCGCGCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCGCTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCCGCCTCAGCCTCCAGAGTTGCTGGGATTACAGGCATGTGCCACCACACCAGGCTAATTTTTGTATTTTTTTAGTGGAGATGGGGTTTCATCACATTGGCCAGGCTAGTCTCGAACACCTGGGCTCAAGTGATGCTCCCGCCTCGGCCCCCCAAAGGGCTGGGATTACAGTCATGAGCTACCATGCTCGGCCCAAATGCGTGACTTTTTCTCAGCCCTGCATTCTCCTCTGATACAAGCGACTCTGCTACACTTGCTCCCTTGCCCACCCCAGGAAGCTGCAGACAGGAGGAGCCCGCTAGCCCCCGAAGACCCTGCCGCGGGAACCCGGCTTGTGGCTGCAACAAGGCCACCCACATAGAAGAGACATAGAAGATCTCCCAGCTCTTCCTGGGAGCAAAGCTGTGCAACCCAGAGCCTCAAGCTGCCGCTTTGGCAGGAAAGCCAACTCCCGCGTGCTGAAGTCACTGAATGCACACCAGAGAGAAACCCACTTCGCAGGAAGCAAATGCTTTGTCTCATTTACATTTTTCGCAGGTGTTCTGGGATGTGAAGGGGACGTGTCCAACGTCCAGGTCCTTCGTCACAGCCATAAAGGAGGCCATGCGTGGGACACGCCCTCATTCCAGGCAATGTGAGAGACGCCTTCACCTTGACCGTGTTGCTGCCTCTCGTTCCAACCGTGCTCAGAACCAGGAGCCGGCGGGGACGGAGCCACAGAGCAGCCGCTTCCCCGTGTCCGCGCCCCTGTACTGTCTTCACACTCGCCATCACCTTGCACACCCTGCGGCACCACACGACCGCCACGGAGCCTGTGGGGCCCTCCTGTGTCTCAAACCCGAGCCCTTCCCCGGCGCCCACATCCAGGTGGGTGTCAAGGGAGGGAGATTCCCCACACTCAGGATCTCCTTCCCTCTGTCCCCAAAGCAGTGCTGCAGTCCAGCCTGGGTTCCGGGCAGTGTCCCCGCTCCCCTCTCCCCACTCCCACAGAGGAAATATTCCCTGGATGCCCCGACCTGCAGGGCCGAGACTGGGCACAGGCACGGGCATCCTGGGGGAAGTCCCTCCAGCCCGGATACGCCCACCCCTGACCTGCTGGGCCGGGGCACTGGCCACAGGCATGGGCATCCTGGGGGGGAGTCTCTCCAGACTGGTCACGCCCCCTCATCATTGGAGCTTCN
|
pathogenic
| 316,387 |
Variant in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2), located at chromosome 20 position 63472259: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Seizures,_benign_familial_neonatal,_1']
|
GCAAAGGAGCTGAGGAGAGCCTGGGAGCTCAGGGAGGTTCAGGGAGCTCCGTGCCCACAGCAAAGGAGCTGAGGAGAGGCCTAGTGCAGGCTGGAAGGCGGGGCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCTTGGATCATGGACTCAAAGCAGAACCAACCCTGGGTCAGACGCAGAGCGGGGCGCTGGCCAGGCTGTCAGGGCAGGAGGGTTGTGGGGGTGGGTTCTATCCTACCCTCCTCCGGGGAGTCACCTTGGGCAGGGACCTGGCTGACCAGTACCGGCCCACCAAGAGCCCCTTTGGCCCCCAGCCAGGTGGGGGCCATCAGGGGAGGCCATTCCTGAGAACACAGAAGCTCATCTGGGGATTCGGGAATGAACCCTGGACTGGAAAAGCTAGACTCACCTCCTGGGGGCCACAGGGCTTCCAGGACCCAGGAGGTCGGAGAAGCTTCTGCTTGGGGAGTCCCAGGCTGGGTGCCCAGGGGCCCTCCACGGAGACACCCTCCCTGTAAGCGGCCTGGCATTTCCCTCTGGGATCTTCTCCCTACCCCAGAACCCTCTCATATCACAGTCCACGGAGGGTCTGCTAAGGGCACACTCAAGGCCACACGCAGGCTGGGGCACACTCGTGGGGCACACACCCCTCTCGGCCCAGGTGGGCGCCCGACCAGCTTGTGACCAGTCTGCCCCTCACTCCCATCCCAAAATGCCTCTCACACAAAATGGCCGGTCCCGGAGCTCAGCGGGTCCCTTGTTCAGCTGGGATGGGAGAGCAAGCGCCCTGGCGCGGGGAGGCTGTGCACACCGGCCGCACAGGCCGCACACGCAGCGGGCCGTGCAATTCCACATGCGAACACCCAGGTGCACACGGACGCAGGCTTCGGCCGCCCCCCGCCAGCCCTGCCCCAGGAGGCAGCCGTTCCCTGAGCCTCGCCCGGGAAGAGGGGACAGCCCCTTCCAGGCCCAGGGCTGGGGGTCCCAGGTCTGCCGCAGCCCCTCCCCCGGGCCTCGCTCTGCCAAGGAGGGGTCCTGAGCCCGGGATGTGCACGGGGGCGGCCGGCGGCTGCAGAGATGGGACAGCGCAGGAGCTGAGCGCAGGAGCTGAGGGGGTTCGCGGGGCCAGGGAGGGGCGTCGGCGCCGAGGGGGCAGGACAGACAGCTGCGCTCAGCCCGGGCTGGGGTGGGGGGGTCATGGGAGGGCCCCTCCCCCATCTCAGGAACCCAGAAGCTCACCCTAGTCTGAGGGAGAGCGGCTCGGGAGGATGGCGGAGGACAGGCCAGACCCCTCCCCCCCGCCCTCGCTTGGTCGGGCGGCCCCAGCCCCGCGGGTCCCCGAGAGTCCCGGAGAGTCCAGACCCAGCGCTGCCGCCGTCCCTCCCCGGCCGGCCCTTTGTTCGGCGCAGAGGCCGCGGGGAGGGGCCTCCCAGGCTGAGGAGGGGGCTGGGGCGGCCGCACGTCTCTGTCCTGCGGGCCTGGAGCCCCCACCCCGACCTGAGCGGCCCCGACCCCGGAATCCTTCCTGCCCGCGCGCTGTACAATCGCTCTCCGGTCTCGGCCCAGCACTCCCGCCGGGGAGCGCCGGCCCCGGACCCAGACCCAGGGGCAGGGAGCCAAACCCGCCGCAGCCAGCCTGGCCGGGGTCGCCGATGGGGTCGCCGATGGGGGTCGCCATGGGGGTCGCCACGGGGGCCCCGCCGGCCACTCACACGTAGGCGTGGTAGATGAACGCCCAGCCGCGCGGCCGCTCCAGCACGTTGTAGAGGAAATTCTGCAGCTTGCGGTAGAAGGCGTTGCGCTTGGGGGGCTTCCCGGCGCCCGCGCCGCCCGCGCGAGGTTTGCTGAGGATGCTGCCGCGCTTGGGGGCCTCGGAGCCGGCGATCAGCAGCGCCCCGTCCCGGGTGGAGTCGGGCGCGCCGGGGTCCAGCCCCACGAAGCCCACCTTCAGCTTCTTCTCCCCGCTCGGGCCGGGGTATACGCCGCCGTTGCGCGACTTCTGCACCATGGTGCCTGGCGGGAGGCGCCCCGGGTCGGGCTCAGGCTCAGCGGGGGCGGAGCGCGGGGGGCGGCGCGGGCCCCAGCCCAGGCCCCCCGGCCGGGAGCCGCATGGCCGAGGCGGCGGTTCCGCACTCCTGCCGGGCTTGGGCCGCGCGCGGAGACGCTGCGGCCACCTCGCTCCGCGCGCACCTCGGCGCCTGGCCCGCGGCCGCGCCGGCTCCGCCCGCCGCCTCGCCCCGCCCCGCGTTAACCCCCGCGACGCCAGTCGAAGGAGAGGGGAGGAGAAGAGAGGGAGGGGAAGGGAGGGGAGAGGGAGGGACGGGGAGGGGAGGGGAGGGGGGAAGGAGAGGAGAGGGGAGGAGAGAAGAGGGAAAGGGAGGGGAGGGGAGGGAGAGGGGACGGGGAGAGGGGAGACAGGAGGGGAGGGGGAGGGGAGGAGAGGGGAATGGGAGGGGAGGAGAGTGGCGGGGACGGGGAGAGGGGAGACAGGAGTGGAGGGGGGAGACAGGAGTGGAGGGGGAGGGGAGGGGGGAGAGGAGGGGGAGTGGGGGAGGGGGAGGGGAGGGCAGGGGGAGAGGAGGGGGAGGCAGAAGGGACCAAGGCCCGCGGGACCAGAGCTCTGGGCTGAGCCTGCCCAATCCCCCGGCCATGTGCACACTGACCCTGCGGTCACCTTTGAGTCCGGTAGTACTAACCAAGTGGACCTGCCTGGTGGCCCCAGCGCTCCTGGGGTCCCAGAGCGGTGCCCAGCCGCCTGAGCAGGACTGGAGTCTTCTCAGCTGGGCCCTGGGAGTGGACGCCTCCGGGAAGGGATGGGGGTAGGGGCTCTCCCCAAGACTCTGTTAGGGCTCAGCCCATGGTGACCTCATGCTCTCGGTGTCAGGGTTGCCCAGGCAGTAGGACCCCCTAGACCCCAGGGTGTGTGCAGGGAGGGTCTGTGGAGGCTGGAGGCACCCTGCAAGGAAAGCAGCCCAGGGGAAAGGGGGTGGCCACAGAGGCCGGGAGGCAAGAAGAGGAGCAAGGGCCATGGGGTGGGGGATGGGAGAGAGTCACTCCTAGAGGGCCTTGAAGCCCCCCAAGGGGCCTGGACTTAGTTATGCAGACCCCAGAAGGGGCCTGTGGCAGGGGCAGGGACTGGAGGGTGGCCCCAGGGCAGCAGACAGGCCAGCAGGAAGCCCAGTGCCACACCTCGGGACAAAGGAGGCAGATCTGTGCCTCCTGGACACAGATGGGACGGTGTTTCCTTGGGGGCAAGTGCGCGGAGGTGGCCTCCCCCCTGCCGGCAGCCATGTGTCCTGGGAGGGGTCCCTCTGGAGCTGCTGCTGGGAGACCAAGGGACCCCTGCGGCTCAGTGCTGCCCGCCCTGTGAGGTGCCCCGCCACTGGGCCTTCCTCTGCACATCCAGGAGGGGTGTCATCTTCGAGTGCGTCTCTGACTACATCCAGCCTGTTTGCACGTTCGCCTGGCACCATGGGTTCTACCCAGAGAAAGGCCCTCTGCTGAATCGCTGGCGCCGTCCTCGCAGGTGACCTGCTCATAAAACAGCCCTAACCCTGGTGCAGAGTGAGCTCTTGAGTTGTGTTTGCCCTTTGGTTTCCAGAGCTAGTGGCCACGGGGCCTGTTTTTGTTGTTGTTGTTTTGTTTTTAACTAGGCTGAATACAGAAGGGTCGGTGCAGGCAGAATGCTAACCTGTACGTTATCCAGGACGTTGGGGATAGACGGCAACTTACACAAGCTTGTGCACATCCAGGGGTACTTTCTGGATCCCCGCCTCCCTGCCTCTGTGCCCACGCATTGGCTGTGATTACCAGCATGAAGTGGGCTTGCCCCAAGCGGCTGCGGTTTCTCT
|
GCAAAGGAGCTGAGGAGAGCCTGGGAGCTCAGGGAGGTTCAGGGAGCTCCGTGCCCACAGCAAAGGAGCTGAGGAGAGGCCTAGTGCAGGCTGGAAGGCGGGGCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCTTGGATCATGGACTCAAAGCAGAACCAACCCTGGGTCAGACGCAGAGCGGGGCGCTGGCCAGGCTGTCAGGGCAGGAGGGTTGTGGGGGTGGGTTCTATCCTACCCTCCTCCGGGGAGTCACCTTGGGCAGGGACCTGGCTGACCAGTACCGGCCCACCAAGAGCCCCTTTGGCCCCCAGCCAGGTGGGGGCCATCAGGGGAGGCCATTCCTGAGAACACAGAAGCTCATCTGGGGATTCGGGAATGAACCCTGGACTGGAAAAGCTAGACTCACCTCCTGGGGGCCACAGGGCTTCCAGGACCCAGGAGGTCGGAGAAGCTTCTGCTTGGGGAGTCCCAGGCTGGGTGCCCAGGGGCCCTCCACGGAGACACCCTCCCTGTAAGCGGCCTGGCATTTCCCTCTGGGATCTTCTCCCTACCCCAGAACCCTCTCATATCACAGTCCACGGAGGGTCTGCTAAGGGCACACTCAAGGCCACACGCAGGCTGGGGCACACTCGTGGGGCACACACCCCTCTCGGCCCAGGTGGGCGCCCGACCAGCTTGTGACCAGTCTGCCCCTCACTCCCATCCCAAAATGCCTCTCACACAAAATGGCCGGTCCCGGAGCTCAGCGGGTCCCTTGTTCAGCTGGGATGGGAGAGCAAGCGCCCTGGCGCGGGGAGGCTGTGCACACCGGCCGCACAGGCCGCACACGCAGCGGGCCGTGCAATTCCACATGCGAACACCCAGGTGCACACGGACGCAGGCTTCGGCCGCCCCCCGCCAGCCCTGCCCCAGGAGGCAGCCGTTCCCTGAGCCTCGCCCGGGAAGAGGGGACAGCCCCTTCCAGGCCCAGGGCTGGGGGTCCCAGGTCTGCCGCAGCCCCTCCCCCGGGCCTCGCTCTGCCAAGGAGGGGTCCTGAGCCCGGGATGTGCACGGGGGCGGCCGGCGGCTGCAGAGATGGGACAGCGCAGGAGCTGAGCGCAGGAGCTGAGGGGGTTCGCGGGGCCAGGGAGGGGCGTCGGCGCCGAGGGGGCAGGACAGACAGCTGCGCTCAGCCCGGGCTGGGGTGGGGGGGTCATGGGAGGGCCCCTCCCCCATCTCAGGAACCCAGAAGCTCACCCTAGTCTGAGGGAGAGCGGCTCGGGAGGATGGCGGAGGACAGGCCAGACCCCTCCCCCCCGCCCTCGCTTGGTCGGGCGGCCCCAGCCCCGCGGGTCCCCGAGAGTCCCGGAGAGTCCAGACCCAGCGCTGCCGCCGTCCCTCCCCGGCCGGCCCTTTGTTCGGCGCAGAGGCCGCGGGGAGGGGCCTCCCAGGCTGAGGAGGGGGCTGGGGCGGCCGCACGTCTCTGTCCTGCGGGCCTGGAGCCCCCACCCCGACCTGAGCGGCCCCGACCCCGGAATCCTTCCTGCCCGCGCGCTGTACAATCGCTCTCCGGTCTCGGCCCAGCACTCCCGCCGGGGAGCGCCGGCCCCGGACCCAGACCCAGGGGCAGGGAGCCAAACCCGCCGCAGCCAGCCTGGCCGGGGTCGCCGATGGGGTCGCCGATGGGGGTCGCCATGGGGGTCGCCACGGGGGCCCCGCCGGCCACTCACACGTAGGCGTGGTAGATGAACGCCCAGCCGCGCGGCCGCTCCAGCACGTTGTAGAGGAAATTCTGCAGCTTGCGGTAGAAGGCGTTGCGCTTGGGGGGGCTTCCCGGCGCCCGCGCCGCCCGCGCGAGGTTTGCTGAGGATGCTGCCGCGCTTGGGGGCCTCGGAGCCGGCGATCAGCAGCGCCCCGTCCCGGGTGGAGTCGGGCGCGCCGGGGTCCAGCCCCACGAAGCCCACCTTCAGCTTCTTCTCCCCGCTCGGGCCGGGGTATACGCCGCCGTTGCGCGACTTCTGCACCATGGTGCCTGGCGGGAGGCGCCCCGGGTCGGGCTCAGGCTCAGCGGGGGCGGAGCGCGGGGGGCGGCGCGGGCCCCAGCCCAGGCCCCCCGGCCGGGAGCCGCATGGCCGAGGCGGCGGTTCCGCACTCCTGCCGGGCTTGGGCCGCGCGCGGAGACGCTGCGGCCACCTCGCTCCGCGCGCACCTCGGCGCCTGGCCCGCGGCCGCGCCGGCTCCGCCCGCCGCCTCGCCCCGCCCCGCGTTAACCCCCGCGACGCCAGTCGAAGGAGAGGGGAGGAGAAGAGAGGGAGGGGAAGGGAGGGGAGAGGGAGGGACGGGGAGGGGAGGGGAGGGGGGAAGGAGAGGAGAGGGGAGGAGAGAAGAGGGAAAGGGAGGGGAGGGGAGGGAGAGGGGACGGGGAGAGGGGAGACAGGAGGGGAGGGGGAGGGGAGGAGAGGGGAATGGGAGGGGAGGAGAGTGGCGGGGACGGGGAGAGGGGAGACAGGAGTGGAGGGGGGAGACAGGAGTGGAGGGGGAGGGGAGGGGGGAGAGGAGGGGGAGTGGGGGAGGGGGAGGGGAGGGCAGGGGGAGAGGAGGGGGAGGCAGAAGGGACCAAGGCCCGCGGGACCAGAGCTCTGGGCTGAGCCTGCCCAATCCCCCGGCCATGTGCACACTGACCCTGCGGTCACCTTTGAGTCCGGTAGTACTAACCAAGTGGACCTGCCTGGTGGCCCCAGCGCTCCTGGGGTCCCAGAGCGGTGCCCAGCCGCCTGAGCAGGACTGGAGTCTTCTCAGCTGGGCCCTGGGAGTGGACGCCTCCGGGAAGGGATGGGGGTAGGGGCTCTCCCCAAGACTCTGTTAGGGCTCAGCCCATGGTGACCTCATGCTCTCGGTGTCAGGGTTGCCCAGGCAGTAGGACCCCCTAGACCCCAGGGTGTGTGCAGGGAGGGTCTGTGGAGGCTGGAGGCACCCTGCAAGGAAAGCAGCCCAGGGGAAAGGGGGTGGCCACAGAGGCCGGGAGGCAAGAAGAGGAGCAAGGGCCATGGGGTGGGGGATGGGAGAGAGTCACTCCTAGAGGGCCTTGAAGCCCCCCAAGGGGCCTGGACTTAGTTATGCAGACCCCAGAAGGGGCCTGTGGCAGGGGCAGGGACTGGAGGGTGGCCCCAGGGCAGCAGACAGGCCAGCAGGAAGCCCAGTGCCACACCTCGGGACAAAGGAGGCAGATCTGTGCCTCCTGGACACAGATGGGACGGTGTTTCCTTGGGGGCAAGTGCGCGGAGGTGGCCTCCCCCCTGCCGGCAGCCATGTGTCCTGGGAGGGGTCCCTCTGGAGCTGCTGCTGGGAGACCAAGGGACCCCTGCGGCTCAGTGCTGCCCGCCCTGTGAGGTGCCCCGCCACTGGGCCTTCCTCTGCACATCCAGGAGGGGTGTCATCTTCGAGTGCGTCTCTGACTACATCCAGCCTGTTTGCACGTTCGCCTGGCACCATGGGTTCTACCCAGAGAAAGGCCCTCTGCTGAATCGCTGGCGCCGTCCTCGCAGGTGACCTGCTCATAAAACAGCCCTAACCCTGGTGCAGAGTGAGCTCTTGAGTTGTGTTTGCCCTTTGGTTTCCAGAGCTAGTGGCCACGGGGCCTGTTTTTGTTGTTGTTGTTTTGTTTTTAACTAGGCTGAATACAGAAGGGTCGGTGCAGGCAGAATGCTAACCTGTACGTTATCCAGGACGTTGGGGATAGACGGCAACTTACACAAGCTTGTGCACATCCAGGGGTACTTTCTGGATCCCCGCCTCCCTGCCTCTGTGCCCACGCATTGGCTGTGATTACCAGCATGAAGTGGGCTTGCCCCAAGCGGCTGCGGTTTCTC
|
pathogenic
| 316,396 |
Chromosome 20, position 63472259, gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts']
|
GCAAAGGAGCTGAGGAGAGCCTGGGAGCTCAGGGAGGTTCAGGGAGCTCCGTGCCCACAGCAAAGGAGCTGAGGAGAGGCCTAGTGCAGGCTGGAAGGCGGGGCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCTTGGATCATGGACTCAAAGCAGAACCAACCCTGGGTCAGACGCAGAGCGGGGCGCTGGCCAGGCTGTCAGGGCAGGAGGGTTGTGGGGGTGGGTTCTATCCTACCCTCCTCCGGGGAGTCACCTTGGGCAGGGACCTGGCTGACCAGTACCGGCCCACCAAGAGCCCCTTTGGCCCCCAGCCAGGTGGGGGCCATCAGGGGAGGCCATTCCTGAGAACACAGAAGCTCATCTGGGGATTCGGGAATGAACCCTGGACTGGAAAAGCTAGACTCACCTCCTGGGGGCCACAGGGCTTCCAGGACCCAGGAGGTCGGAGAAGCTTCTGCTTGGGGAGTCCCAGGCTGGGTGCCCAGGGGCCCTCCACGGAGACACCCTCCCTGTAAGCGGCCTGGCATTTCCCTCTGGGATCTTCTCCCTACCCCAGAACCCTCTCATATCACAGTCCACGGAGGGTCTGCTAAGGGCACACTCAAGGCCACACGCAGGCTGGGGCACACTCGTGGGGCACACACCCCTCTCGGCCCAGGTGGGCGCCCGACCAGCTTGTGACCAGTCTGCCCCTCACTCCCATCCCAAAATGCCTCTCACACAAAATGGCCGGTCCCGGAGCTCAGCGGGTCCCTTGTTCAGCTGGGATGGGAGAGCAAGCGCCCTGGCGCGGGGAGGCTGTGCACACCGGCCGCACAGGCCGCACACGCAGCGGGCCGTGCAATTCCACATGCGAACACCCAGGTGCACACGGACGCAGGCTTCGGCCGCCCCCCGCCAGCCCTGCCCCAGGAGGCAGCCGTTCCCTGAGCCTCGCCCGGGAAGAGGGGACAGCCCCTTCCAGGCCCAGGGCTGGGGGTCCCAGGTCTGCCGCAGCCCCTCCCCCGGGCCTCGCTCTGCCAAGGAGGGGTCCTGAGCCCGGGATGTGCACGGGGGCGGCCGGCGGCTGCAGAGATGGGACAGCGCAGGAGCTGAGCGCAGGAGCTGAGGGGGTTCGCGGGGCCAGGGAGGGGCGTCGGCGCCGAGGGGGCAGGACAGACAGCTGCGCTCAGCCCGGGCTGGGGTGGGGGGGTCATGGGAGGGCCCCTCCCCCATCTCAGGAACCCAGAAGCTCACCCTAGTCTGAGGGAGAGCGGCTCGGGAGGATGGCGGAGGACAGGCCAGACCCCTCCCCCCCGCCCTCGCTTGGTCGGGCGGCCCCAGCCCCGCGGGTCCCCGAGAGTCCCGGAGAGTCCAGACCCAGCGCTGCCGCCGTCCCTCCCCGGCCGGCCCTTTGTTCGGCGCAGAGGCCGCGGGGAGGGGCCTCCCAGGCTGAGGAGGGGGCTGGGGCGGCCGCACGTCTCTGTCCTGCGGGCCTGGAGCCCCCACCCCGACCTGAGCGGCCCCGACCCCGGAATCCTTCCTGCCCGCGCGCTGTACAATCGCTCTCCGGTCTCGGCCCAGCACTCCCGCCGGGGAGCGCCGGCCCCGGACCCAGACCCAGGGGCAGGGAGCCAAACCCGCCGCAGCCAGCCTGGCCGGGGTCGCCGATGGGGTCGCCGATGGGGGTCGCCATGGGGGTCGCCACGGGGGCCCCGCCGGCCACTCACACGTAGGCGTGGTAGATGAACGCCCAGCCGCGCGGCCGCTCCAGCACGTTGTAGAGGAAATTCTGCAGCTTGCGGTAGAAGGCGTTGCGCTTGGGGGGCTTCCCGGCGCCCGCGCCGCCCGCGCGAGGTTTGCTGAGGATGCTGCCGCGCTTGGGGGCCTCGGAGCCGGCGATCAGCAGCGCCCCGTCCCGGGTGGAGTCGGGCGCGCCGGGGTCCAGCCCCACGAAGCCCACCTTCAGCTTCTTCTCCCCGCTCGGGCCGGGGTATACGCCGCCGTTGCGCGACTTCTGCACCATGGTGCCTGGCGGGAGGCGCCCCGGGTCGGGCTCAGGCTCAGCGGGGGCGGAGCGCGGGGGGCGGCGCGGGCCCCAGCCCAGGCCCCCCGGCCGGGAGCCGCATGGCCGAGGCGGCGGTTCCGCACTCCTGCCGGGCTTGGGCCGCGCGCGGAGACGCTGCGGCCACCTCGCTCCGCGCGCACCTCGGCGCCTGGCCCGCGGCCGCGCCGGCTCCGCCCGCCGCCTCGCCCCGCCCCGCGTTAACCCCCGCGACGCCAGTCGAAGGAGAGGGGAGGAGAAGAGAGGGAGGGGAAGGGAGGGGAGAGGGAGGGACGGGGAGGGGAGGGGAGGGGGGAAGGAGAGGAGAGGGGAGGAGAGAAGAGGGAAAGGGAGGGGAGGGGAGGGAGAGGGGACGGGGAGAGGGGAGACAGGAGGGGAGGGGGAGGGGAGGAGAGGGGAATGGGAGGGGAGGAGAGTGGCGGGGACGGGGAGAGGGGAGACAGGAGTGGAGGGGGGAGACAGGAGTGGAGGGGGAGGGGAGGGGGGAGAGGAGGGGGAGTGGGGGAGGGGGAGGGGAGGGCAGGGGGAGAGGAGGGGGAGGCAGAAGGGACCAAGGCCCGCGGGACCAGAGCTCTGGGCTGAGCCTGCCCAATCCCCCGGCCATGTGCACACTGACCCTGCGGTCACCTTTGAGTCCGGTAGTACTAACCAAGTGGACCTGCCTGGTGGCCCCAGCGCTCCTGGGGTCCCAGAGCGGTGCCCAGCCGCCTGAGCAGGACTGGAGTCTTCTCAGCTGGGCCCTGGGAGTGGACGCCTCCGGGAAGGGATGGGGGTAGGGGCTCTCCCCAAGACTCTGTTAGGGCTCAGCCCATGGTGACCTCATGCTCTCGGTGTCAGGGTTGCCCAGGCAGTAGGACCCCCTAGACCCCAGGGTGTGTGCAGGGAGGGTCTGTGGAGGCTGGAGGCACCCTGCAAGGAAAGCAGCCCAGGGGAAAGGGGGTGGCCACAGAGGCCGGGAGGCAAGAAGAGGAGCAAGGGCCATGGGGTGGGGGATGGGAGAGAGTCACTCCTAGAGGGCCTTGAAGCCCCCCAAGGGGCCTGGACTTAGTTATGCAGACCCCAGAAGGGGCCTGTGGCAGGGGCAGGGACTGGAGGGTGGCCCCAGGGCAGCAGACAGGCCAGCAGGAAGCCCAGTGCCACACCTCGGGACAAAGGAGGCAGATCTGTGCCTCCTGGACACAGATGGGACGGTGTTTCCTTGGGGGCAAGTGCGCGGAGGTGGCCTCCCCCCTGCCGGCAGCCATGTGTCCTGGGAGGGGTCCCTCTGGAGCTGCTGCTGGGAGACCAAGGGACCCCTGCGGCTCAGTGCTGCCCGCCCTGTGAGGTGCCCCGCCACTGGGCCTTCCTCTGCACATCCAGGAGGGGTGTCATCTTCGAGTGCGTCTCTGACTACATCCAGCCTGTTTGCACGTTCGCCTGGCACCATGGGTTCTACCCAGAGAAAGGCCCTCTGCTGAATCGCTGGCGCCGTCCTCGCAGGTGACCTGCTCATAAAACAGCCCTAACCCTGGTGCAGAGTGAGCTCTTGAGTTGTGTTTGCCCTTTGGTTTCCAGAGCTAGTGGCCACGGGGCCTGTTTTTGTTGTTGTTGTTTTGTTTTTAACTAGGCTGAATACAGAAGGGTCGGTGCAGGCAGAATGCTAACCTGTACGTTATCCAGGACGTTGGGGATAGACGGCAACTTACACAAGCTTGTGCACATCCAGGGGTACTTTCTGGATCCCCGCCTCCCTGCCTCTGTGCCCACGCATTGGCTGTGATTACCAGCATGAAGTGGGCTTGCCCCAAGCGGCTGCGGTTTCTCT
|
GCAAAGGAGCTGAGGAGAGCCTGGGAGCTCAGGGAGGTTCAGGGAGCTCCGTGCCCACAGCAAAGGAGCTGAGGAGAGGCCTAGTGCAGGCTGGAAGGCGGGGCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCTTGGATCATGGACTCAAAGCAGAACCAACCCTGGGTCAGACGCAGAGCGGGGCGCTGGCCAGGCTGTCAGGGCAGGAGGGTTGTGGGGGTGGGTTCTATCCTACCCTCCTCCGGGGAGTCACCTTGGGCAGGGACCTGGCTGACCAGTACCGGCCCACCAAGAGCCCCTTTGGCCCCCAGCCAGGTGGGGGCCATCAGGGGAGGCCATTCCTGAGAACACAGAAGCTCATCTGGGGATTCGGGAATGAACCCTGGACTGGAAAAGCTAGACTCACCTCCTGGGGGCCACAGGGCTTCCAGGACCCAGGAGGTCGGAGAAGCTTCTGCTTGGGGAGTCCCAGGCTGGGTGCCCAGGGGCCCTCCACGGAGACACCCTCCCTGTAAGCGGCCTGGCATTTCCCTCTGGGATCTTCTCCCTACCCCAGAACCCTCTCATATCACAGTCCACGGAGGGTCTGCTAAGGGCACACTCAAGGCCACACGCAGGCTGGGGCACACTCGTGGGGCACACACCCCTCTCGGCCCAGGTGGGCGCCCGACCAGCTTGTGACCAGTCTGCCCCTCACTCCCATCCCAAAATGCCTCTCACACAAAATGGCCGGTCCCGGAGCTCAGCGGGTCCCTTGTTCAGCTGGGATGGGAGAGCAAGCGCCCTGGCGCGGGGAGGCTGTGCACACCGGCCGCACAGGCCGCACACGCAGCGGGCCGTGCAATTCCACATGCGAACACCCAGGTGCACACGGACGCAGGCTTCGGCCGCCCCCCGCCAGCCCTGCCCCAGGAGGCAGCCGTTCCCTGAGCCTCGCCCGGGAAGAGGGGACAGCCCCTTCCAGGCCCAGGGCTGGGGGTCCCAGGTCTGCCGCAGCCCCTCCCCCGGGCCTCGCTCTGCCAAGGAGGGGTCCTGAGCCCGGGATGTGCACGGGGGCGGCCGGCGGCTGCAGAGATGGGACAGCGCAGGAGCTGAGCGCAGGAGCTGAGGGGGTTCGCGGGGCCAGGGAGGGGCGTCGGCGCCGAGGGGGCAGGACAGACAGCTGCGCTCAGCCCGGGCTGGGGTGGGGGGGTCATGGGAGGGCCCCTCCCCCATCTCAGGAACCCAGAAGCTCACCCTAGTCTGAGGGAGAGCGGCTCGGGAGGATGGCGGAGGACAGGCCAGACCCCTCCCCCCCGCCCTCGCTTGGTCGGGCGGCCCCAGCCCCGCGGGTCCCCGAGAGTCCCGGAGAGTCCAGACCCAGCGCTGCCGCCGTCCCTCCCCGGCCGGCCCTTTGTTCGGCGCAGAGGCCGCGGGGAGGGGCCTCCCAGGCTGAGGAGGGGGCTGGGGCGGCCGCACGTCTCTGTCCTGCGGGCCTGGAGCCCCCACCCCGACCTGAGCGGCCCCGACCCCGGAATCCTTCCTGCCCGCGCGCTGTACAATCGCTCTCCGGTCTCGGCCCAGCACTCCCGCCGGGGAGCGCCGGCCCCGGACCCAGACCCAGGGGCAGGGAGCCAAACCCGCCGCAGCCAGCCTGGCCGGGGTCGCCGATGGGGTCGCCGATGGGGGTCGCCATGGGGGTCGCCACGGGGGCCCCGCCGGCCACTCACACGTAGGCGTGGTAGATGAACGCCCAGCCGCGCGGCCGCTCCAGCACGTTGTAGAGGAAATTCTGCAGCTTGCGGTAGAAGGCGTTGCGCTTGGGGGCTTCCCGGCGCCCGCGCCGCCCGCGCGAGGTTTGCTGAGGATGCTGCCGCGCTTGGGGGCCTCGGAGCCGGCGATCAGCAGCGCCCCGTCCCGGGTGGAGTCGGGCGCGCCGGGGTCCAGCCCCACGAAGCCCACCTTCAGCTTCTTCTCCCCGCTCGGGCCGGGGTATACGCCGCCGTTGCGCGACTTCTGCACCATGGTGCCTGGCGGGAGGCGCCCCGGGTCGGGCTCAGGCTCAGCGGGGGCGGAGCGCGGGGGGCGGCGCGGGCCCCAGCCCAGGCCCCCCGGCCGGGAGCCGCATGGCCGAGGCGGCGGTTCCGCACTCCTGCCGGGCTTGGGCCGCGCGCGGAGACGCTGCGGCCACCTCGCTCCGCGCGCACCTCGGCGCCTGGCCCGCGGCCGCGCCGGCTCCGCCCGCCGCCTCGCCCCGCCCCGCGTTAACCCCCGCGACGCCAGTCGAAGGAGAGGGGAGGAGAAGAGAGGGAGGGGAAGGGAGGGGAGAGGGAGGGACGGGGAGGGGAGGGGAGGGGGGAAGGAGAGGAGAGGGGAGGAGAGAAGAGGGAAAGGGAGGGGAGGGGAGGGAGAGGGGACGGGGAGAGGGGAGACAGGAGGGGAGGGGGAGGGGAGGAGAGGGGAATGGGAGGGGAGGAGAGTGGCGGGGACGGGGAGAGGGGAGACAGGAGTGGAGGGGGGAGACAGGAGTGGAGGGGGAGGGGAGGGGGGAGAGGAGGGGGAGTGGGGGAGGGGGAGGGGAGGGCAGGGGGAGAGGAGGGGGAGGCAGAAGGGACCAAGGCCCGCGGGACCAGAGCTCTGGGCTGAGCCTGCCCAATCCCCCGGCCATGTGCACACTGACCCTGCGGTCACCTTTGAGTCCGGTAGTACTAACCAAGTGGACCTGCCTGGTGGCCCCAGCGCTCCTGGGGTCCCAGAGCGGTGCCCAGCCGCCTGAGCAGGACTGGAGTCTTCTCAGCTGGGCCCTGGGAGTGGACGCCTCCGGGAAGGGATGGGGGTAGGGGCTCTCCCCAAGACTCTGTTAGGGCTCAGCCCATGGTGACCTCATGCTCTCGGTGTCAGGGTTGCCCAGGCAGTAGGACCCCCTAGACCCCAGGGTGTGTGCAGGGAGGGTCTGTGGAGGCTGGAGGCACCCTGCAAGGAAAGCAGCCCAGGGGAAAGGGGGTGGCCACAGAGGCCGGGAGGCAAGAAGAGGAGCAAGGGCCATGGGGTGGGGGATGGGAGAGAGTCACTCCTAGAGGGCCTTGAAGCCCCCCAAGGGGCCTGGACTTAGTTATGCAGACCCCAGAAGGGGCCTGTGGCAGGGGCAGGGACTGGAGGGTGGCCCCAGGGCAGCAGACAGGCCAGCAGGAAGCCCAGTGCCACACCTCGGGACAAAGGAGGCAGATCTGTGCCTCCTGGACACAGATGGGACGGTGTTTCCTTGGGGGCAAGTGCGCGGAGGTGGCCTCCCCCCTGCCGGCAGCCATGTGTCCTGGGAGGGGTCCCTCTGGAGCTGCTGCTGGGAGACCAAGGGACCCCTGCGGCTCAGTGCTGCCCGCCCTGTGAGGTGCCCCGCCACTGGGCCTTCCTCTGCACATCCAGGAGGGGTGTCATCTTCGAGTGCGTCTCTGACTACATCCAGCCTGTTTGCACGTTCGCCTGGCACCATGGGTTCTACCCAGAGAAAGGCCCTCTGCTGAATCGCTGGCGCCGTCCTCGCAGGTGACCTGCTCATAAAACAGCCCTAACCCTGGTGCAGAGTGAGCTCTTGAGTTGTGTTTGCCCTTTGGTTTCCAGAGCTAGTGGCCACGGGGCCTGTTTTTGTTGTTGTTGTTTTGTTTTTAACTAGGCTGAATACAGAAGGGTCGGTGCAGGCAGAATGCTAACCTGTACGTTATCCAGGACGTTGGGGATAGACGGCAACTTACACAAGCTTGTGCACATCCAGGGGTACTTTCTGGATCCCCGCCTCCCTGCCTCTGTGCCCACGCATTGGCTGTGATTACCAGCATGAAGTGGGCTTGCCCCAAGCGGCTGCGGTTTCTCTN
|
pathogenic
| 316,397 |
Gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) variant at chromosome position 63472319 on chromosome 20: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'KCNQ2-related_disorder']
|
CAAAGGAGCTGAGGAGAGGCCTAGTGCAGGCTGGAAGGCGGGGCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCTTGGATCATGGACTCAAAGCAGAACCAACCCTGGGTCAGACGCAGAGCGGGGCGCTGGCCAGGCTGTCAGGGCAGGAGGGTTGTGGGGGTGGGTTCTATCCTACCCTCCTCCGGGGAGTCACCTTGGGCAGGGACCTGGCTGACCAGTACCGGCCCACCAAGAGCCCCTTTGGCCCCCAGCCAGGTGGGGGCCATCAGGGGAGGCCATTCCTGAGAACACAGAAGCTCATCTGGGGATTCGGGAATGAACCCTGGACTGGAAAAGCTAGACTCACCTCCTGGGGGCCACAGGGCTTCCAGGACCCAGGAGGTCGGAGAAGCTTCTGCTTGGGGAGTCCCAGGCTGGGTGCCCAGGGGCCCTCCACGGAGACACCCTCCCTGTAAGCGGCCTGGCATTTCCCTCTGGGATCTTCTCCCTACCCCAGAACCCTCTCATATCACAGTCCACGGAGGGTCTGCTAAGGGCACACTCAAGGCCACACGCAGGCTGGGGCACACTCGTGGGGCACACACCCCTCTCGGCCCAGGTGGGCGCCCGACCAGCTTGTGACCAGTCTGCCCCTCACTCCCATCCCAAAATGCCTCTCACACAAAATGGCCGGTCCCGGAGCTCAGCGGGTCCCTTGTTCAGCTGGGATGGGAGAGCAAGCGCCCTGGCGCGGGGAGGCTGTGCACACCGGCCGCACAGGCCGCACACGCAGCGGGCCGTGCAATTCCACATGCGAACACCCAGGTGCACACGGACGCAGGCTTCGGCCGCCCCCCGCCAGCCCTGCCCCAGGAGGCAGCCGTTCCCTGAGCCTCGCCCGGGAAGAGGGGACAGCCCCTTCCAGGCCCAGGGCTGGGGGTCCCAGGTCTGCCGCAGCCCCTCCCCCGGGCCTCGCTCTGCCAAGGAGGGGTCCTGAGCCCGGGATGTGCACGGGGGCGGCCGGCGGCTGCAGAGATGGGACAGCGCAGGAGCTGAGCGCAGGAGCTGAGGGGGTTCGCGGGGCCAGGGAGGGGCGTCGGCGCCGAGGGGGCAGGACAGACAGCTGCGCTCAGCCCGGGCTGGGGTGGGGGGGTCATGGGAGGGCCCCTCCCCCATCTCAGGAACCCAGAAGCTCACCCTAGTCTGAGGGAGAGCGGCTCGGGAGGATGGCGGAGGACAGGCCAGACCCCTCCCCCCCGCCCTCGCTTGGTCGGGCGGCCCCAGCCCCGCGGGTCCCCGAGAGTCCCGGAGAGTCCAGACCCAGCGCTGCCGCCGTCCCTCCCCGGCCGGCCCTTTGTTCGGCGCAGAGGCCGCGGGGAGGGGCCTCCCAGGCTGAGGAGGGGGCTGGGGCGGCCGCACGTCTCTGTCCTGCGGGCCTGGAGCCCCCACCCCGACCTGAGCGGCCCCGACCCCGGAATCCTTCCTGCCCGCGCGCTGTACAATCGCTCTCCGGTCTCGGCCCAGCACTCCCGCCGGGGAGCGCCGGCCCCGGACCCAGACCCAGGGGCAGGGAGCCAAACCCGCCGCAGCCAGCCTGGCCGGGGTCGCCGATGGGGTCGCCGATGGGGGTCGCCATGGGGGTCGCCACGGGGGCCCCGCCGGCCACTCACACGTAGGCGTGGTAGATGAACGCCCAGCCGCGCGGCCGCTCCAGCACGTTGTAGAGGAAATTCTGCAGCTTGCGGTAGAAGGCGTTGCGCTTGGGGGGCTTCCCGGCGCCCGCGCCGCCCGCGCGAGGTTTGCTGAGGATGCTGCCGCGCTTGGGGGCCTCGGAGCCGGCGATCAGCAGCGCCCCGTCCCGGGTGGAGTCGGGCGCGCCGGGGTCCAGCCCCACGAAGCCCACCTTCAGCTTCTTCTCCCCGCTCGGGCCGGGGTATACGCCGCCGTTGCGCGACTTCTGCACCATGGTGCCTGGCGGGAGGCGCCCCGGGTCGGGCTCAGGCTCAGCGGGGGCGGAGCGCGGGGGGCGGCGCGGGCCCCAGCCCAGGCCCCCCGGCCGGGAGCCGCATGGCCGAGGCGGCGGTTCCGCACTCCTGCCGGGCTTGGGCCGCGCGCGGAGACGCTGCGGCCACCTCGCTCCGCGCGCACCTCGGCGCCTGGCCCGCGGCCGCGCCGGCTCCGCCCGCCGCCTCGCCCCGCCCCGCGTTAACCCCCGCGACGCCAGTCGAAGGAGAGGGGAGGAGAAGAGAGGGAGGGGAAGGGAGGGGAGAGGGAGGGACGGGGAGGGGAGGGGAGGGGGGAAGGAGAGGAGAGGGGAGGAGAGAAGAGGGAAAGGGAGGGGAGGGGAGGGAGAGGGGACGGGGAGAGGGGAGACAGGAGGGGAGGGGGAGGGGAGGAGAGGGGAATGGGAGGGGAGGAGAGTGGCGGGGACGGGGAGAGGGGAGACAGGAGTGGAGGGGGGAGACAGGAGTGGAGGGGGAGGGGAGGGGGGAGAGGAGGGGGAGTGGGGGAGGGGGAGGGGAGGGCAGGGGGAGAGGAGGGGGAGGCAGAAGGGACCAAGGCCCGCGGGACCAGAGCTCTGGGCTGAGCCTGCCCAATCCCCCGGCCATGTGCACACTGACCCTGCGGTCACCTTTGAGTCCGGTAGTACTAACCAAGTGGACCTGCCTGGTGGCCCCAGCGCTCCTGGGGTCCCAGAGCGGTGCCCAGCCGCCTGAGCAGGACTGGAGTCTTCTCAGCTGGGCCCTGGGAGTGGACGCCTCCGGGAAGGGATGGGGGTAGGGGCTCTCCCCAAGACTCTGTTAGGGCTCAGCCCATGGTGACCTCATGCTCTCGGTGTCAGGGTTGCCCAGGCAGTAGGACCCCCTAGACCCCAGGGTGTGTGCAGGGAGGGTCTGTGGAGGCTGGAGGCACCCTGCAAGGAAAGCAGCCCAGGGGAAAGGGGGTGGCCACAGAGGCCGGGAGGCAAGAAGAGGAGCAAGGGCCATGGGGTGGGGGATGGGAGAGAGTCACTCCTAGAGGGCCTTGAAGCCCCCCAAGGGGCCTGGACTTAGTTATGCAGACCCCAGAAGGGGCCTGTGGCAGGGGCAGGGACTGGAGGGTGGCCCCAGGGCAGCAGACAGGCCAGCAGGAAGCCCAGTGCCACACCTCGGGACAAAGGAGGCAGATCTGTGCCTCCTGGACACAGATGGGACGGTGTTTCCTTGGGGGCAAGTGCGCGGAGGTGGCCTCCCCCCTGCCGGCAGCCATGTGTCCTGGGAGGGGTCCCTCTGGAGCTGCTGCTGGGAGACCAAGGGACCCCTGCGGCTCAGTGCTGCCCGCCCTGTGAGGTGCCCCGCCACTGGGCCTTCCTCTGCACATCCAGGAGGGGTGTCATCTTCGAGTGCGTCTCTGACTACATCCAGCCTGTTTGCACGTTCGCCTGGCACCATGGGTTCTACCCAGAGAAAGGCCCTCTGCTGAATCGCTGGCGCCGTCCTCGCAGGTGACCTGCTCATAAAACAGCCCTAACCCTGGTGCAGAGTGAGCTCTTGAGTTGTGTTTGCCCTTTGGTTTCCAGAGCTAGTGGCCACGGGGCCTGTTTTTGTTGTTGTTGTTTTGTTTTTAACTAGGCTGAATACAGAAGGGTCGGTGCAGGCAGAATGCTAACCTGTACGTTATCCAGGACGTTGGGGATAGACGGCAACTTACACAAGCTTGTGCACATCCAGGGGTACTTTCTGGATCCCCGCCTCCCTGCCTCTGTGCCCACGCATTGGCTGTGATTACCAGCATGAAGTGGGCTTGCCCCAAGCGGCTGCGGTTTCTCTCGATTGTTAAGGGAGGAGGCACCAGCCTGGTGCTTTCAGGGGAGGGAGAGGACTTCAGTA
|
CAAAGGAGCTGAGGAGAGGCCTAGTGCAGGCTGGAAGGCGGGGCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCTTGGATCATGGACTCAAAGCAGAACCAACCCTGGGTCAGACGCAGAGCGGGGCGCTGGCCAGGCTGTCAGGGCAGGAGGGTTGTGGGGGTGGGTTCTATCCTACCCTCCTCCGGGGAGTCACCTTGGGCAGGGACCTGGCTGACCAGTACCGGCCCACCAAGAGCCCCTTTGGCCCCCAGCCAGGTGGGGGCCATCAGGGGAGGCCATTCCTGAGAACACAGAAGCTCATCTGGGGATTCGGGAATGAACCCTGGACTGGAAAAGCTAGACTCACCTCCTGGGGGCCACAGGGCTTCCAGGACCCAGGAGGTCGGAGAAGCTTCTGCTTGGGGAGTCCCAGGCTGGGTGCCCAGGGGCCCTCCACGGAGACACCCTCCCTGTAAGCGGCCTGGCATTTCCCTCTGGGATCTTCTCCCTACCCCAGAACCCTCTCATATCACAGTCCACGGAGGGTCTGCTAAGGGCACACTCAAGGCCACACGCAGGCTGGGGCACACTCGTGGGGCACACACCCCTCTCGGCCCAGGTGGGCGCCCGACCAGCTTGTGACCAGTCTGCCCCTCACTCCCATCCCAAAATGCCTCTCACACAAAATGGCCGGTCCCGGAGCTCAGCGGGTCCCTTGTTCAGCTGGGATGGGAGAGCAAGCGCCCTGGCGCGGGGAGGCTGTGCACACCGGCCGCACAGGCCGCACACGCAGCGGGCCGTGCAATTCCACATGCGAACACCCAGGTGCACACGGACGCAGGCTTCGGCCGCCCCCCGCCAGCCCTGCCCCAGGAGGCAGCCGTTCCCTGAGCCTCGCCCGGGAAGAGGGGACAGCCCCTTCCAGGCCCAGGGCTGGGGGTCCCAGGTCTGCCGCAGCCCCTCCCCCGGGCCTCGCTCTGCCAAGGAGGGGTCCTGAGCCCGGGATGTGCACGGGGGCGGCCGGCGGCTGCAGAGATGGGACAGCGCAGGAGCTGAGCGCAGGAGCTGAGGGGGTTCGCGGGGCCAGGGAGGGGCGTCGGCGCCGAGGGGGCAGGACAGACAGCTGCGCTCAGCCCGGGCTGGGGTGGGGGGGTCATGGGAGGGCCCCTCCCCCATCTCAGGAACCCAGAAGCTCACCCTAGTCTGAGGGAGAGCGGCTCGGGAGGATGGCGGAGGACAGGCCAGACCCCTCCCCCCCGCCCTCGCTTGGTCGGGCGGCCCCAGCCCCGCGGGTCCCCGAGAGTCCCGGAGAGTCCAGACCCAGCGCTGCCGCCGTCCCTCCCCGGCCGGCCCTTTGTTCGGCGCAGAGGCCGCGGGGAGGGGCCTCCCAGGCTGAGGAGGGGGCTGGGGCGGCCGCACGTCTCTGTCCTGCGGGCCTGGAGCCCCCACCCCGACCTGAGCGGCCCCGACCCCGGAATCCTTCCTGCCCGCGCGCTGTACAATCGCTCTCCGGTCTCGGCCCAGCACTCCCGCCGGGGAGCGCCGGCCCCGGACCCAGACCCAGGGGCAGGGAGCCAAACCCGCCGCAGCCAGCCTGGCCGGGGTCGCCGATGGGGTCGCCGATGGGGGTCGCCATGGGGGTCGCCACGGGGGCCCCGCCGGCCACTCACACGTAGGCGTGGTAGATGAACGCCCAGCCGCGCGGCCGCTCCAGCACGTTGTAGAGGAAATTCTGCAGCTTGCGGTAGAAGGCGTTGCGCTTGGGGGGCTTCCCGGCGCCCGCGCCGCCCGCGCGAGGTTTGCTGAGGATGCTGCCGCGCTTGGGGGGCCTCGGAGCCGGCGATCAGCAGCGCCCCGTCCCGGGTGGAGTCGGGCGCGCCGGGGTCCAGCCCCACGAAGCCCACCTTCAGCTTCTTCTCCCCGCTCGGGCCGGGGTATACGCCGCCGTTGCGCGACTTCTGCACCATGGTGCCTGGCGGGAGGCGCCCCGGGTCGGGCTCAGGCTCAGCGGGGGCGGAGCGCGGGGGGCGGCGCGGGCCCCAGCCCAGGCCCCCCGGCCGGGAGCCGCATGGCCGAGGCGGCGGTTCCGCACTCCTGCCGGGCTTGGGCCGCGCGCGGAGACGCTGCGGCCACCTCGCTCCGCGCGCACCTCGGCGCCTGGCCCGCGGCCGCGCCGGCTCCGCCCGCCGCCTCGCCCCGCCCCGCGTTAACCCCCGCGACGCCAGTCGAAGGAGAGGGGAGGAGAAGAGAGGGAGGGGAAGGGAGGGGAGAGGGAGGGACGGGGAGGGGAGGGGAGGGGGGAAGGAGAGGAGAGGGGAGGAGAGAAGAGGGAAAGGGAGGGGAGGGGAGGGAGAGGGGACGGGGAGAGGGGAGACAGGAGGGGAGGGGGAGGGGAGGAGAGGGGAATGGGAGGGGAGGAGAGTGGCGGGGACGGGGAGAGGGGAGACAGGAGTGGAGGGGGGAGACAGGAGTGGAGGGGGAGGGGAGGGGGGAGAGGAGGGGGAGTGGGGGAGGGGGAGGGGAGGGCAGGGGGAGAGGAGGGGGAGGCAGAAGGGACCAAGGCCCGCGGGACCAGAGCTCTGGGCTGAGCCTGCCCAATCCCCCGGCCATGTGCACACTGACCCTGCGGTCACCTTTGAGTCCGGTAGTACTAACCAAGTGGACCTGCCTGGTGGCCCCAGCGCTCCTGGGGTCCCAGAGCGGTGCCCAGCCGCCTGAGCAGGACTGGAGTCTTCTCAGCTGGGCCCTGGGAGTGGACGCCTCCGGGAAGGGATGGGGGTAGGGGCTCTCCCCAAGACTCTGTTAGGGCTCAGCCCATGGTGACCTCATGCTCTCGGTGTCAGGGTTGCCCAGGCAGTAGGACCCCCTAGACCCCAGGGTGTGTGCAGGGAGGGTCTGTGGAGGCTGGAGGCACCCTGCAAGGAAAGCAGCCCAGGGGAAAGGGGGTGGCCACAGAGGCCGGGAGGCAAGAAGAGGAGCAAGGGCCATGGGGTGGGGGATGGGAGAGAGTCACTCCTAGAGGGCCTTGAAGCCCCCCAAGGGGCCTGGACTTAGTTATGCAGACCCCAGAAGGGGCCTGTGGCAGGGGCAGGGACTGGAGGGTGGCCCCAGGGCAGCAGACAGGCCAGCAGGAAGCCCAGTGCCACACCTCGGGACAAAGGAGGCAGATCTGTGCCTCCTGGACACAGATGGGACGGTGTTTCCTTGGGGGCAAGTGCGCGGAGGTGGCCTCCCCCCTGCCGGCAGCCATGTGTCCTGGGAGGGGTCCCTCTGGAGCTGCTGCTGGGAGACCAAGGGACCCCTGCGGCTCAGTGCTGCCCGCCCTGTGAGGTGCCCCGCCACTGGGCCTTCCTCTGCACATCCAGGAGGGGTGTCATCTTCGAGTGCGTCTCTGACTACATCCAGCCTGTTTGCACGTTCGCCTGGCACCATGGGTTCTACCCAGAGAAAGGCCCTCTGCTGAATCGCTGGCGCCGTCCTCGCAGGTGACCTGCTCATAAAACAGCCCTAACCCTGGTGCAGAGTGAGCTCTTGAGTTGTGTTTGCCCTTTGGTTTCCAGAGCTAGTGGCCACGGGGCCTGTTTTTGTTGTTGTTGTTTTGTTTTTAACTAGGCTGAATACAGAAGGGTCGGTGCAGGCAGAATGCTAACCTGTACGTTATCCAGGACGTTGGGGATAGACGGCAACTTACACAAGCTTGTGCACATCCAGGGGTACTTTCTGGATCCCCGCCTCCCTGCCTCTGTGCCCACGCATTGGCTGTGATTACCAGCATGAAGTGGGCTTGCCCCAAGCGGCTGCGGTTTCTCTCGATTGTTAAGGGAGGAGGCACCAGCCTGGTGCTTTCAGGGGAGGGAGAGGACTTCAGT
|
pathogenic
| 316,399 |
Determine if the mutation at chromosome 20, position 63472319 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts']
|
CAAAGGAGCTGAGGAGAGGCCTAGTGCAGGCTGGAAGGCGGGGCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCTTGGATCATGGACTCAAAGCAGAACCAACCCTGGGTCAGACGCAGAGCGGGGCGCTGGCCAGGCTGTCAGGGCAGGAGGGTTGTGGGGGTGGGTTCTATCCTACCCTCCTCCGGGGAGTCACCTTGGGCAGGGACCTGGCTGACCAGTACCGGCCCACCAAGAGCCCCTTTGGCCCCCAGCCAGGTGGGGGCCATCAGGGGAGGCCATTCCTGAGAACACAGAAGCTCATCTGGGGATTCGGGAATGAACCCTGGACTGGAAAAGCTAGACTCACCTCCTGGGGGCCACAGGGCTTCCAGGACCCAGGAGGTCGGAGAAGCTTCTGCTTGGGGAGTCCCAGGCTGGGTGCCCAGGGGCCCTCCACGGAGACACCCTCCCTGTAAGCGGCCTGGCATTTCCCTCTGGGATCTTCTCCCTACCCCAGAACCCTCTCATATCACAGTCCACGGAGGGTCTGCTAAGGGCACACTCAAGGCCACACGCAGGCTGGGGCACACTCGTGGGGCACACACCCCTCTCGGCCCAGGTGGGCGCCCGACCAGCTTGTGACCAGTCTGCCCCTCACTCCCATCCCAAAATGCCTCTCACACAAAATGGCCGGTCCCGGAGCTCAGCGGGTCCCTTGTTCAGCTGGGATGGGAGAGCAAGCGCCCTGGCGCGGGGAGGCTGTGCACACCGGCCGCACAGGCCGCACACGCAGCGGGCCGTGCAATTCCACATGCGAACACCCAGGTGCACACGGACGCAGGCTTCGGCCGCCCCCCGCCAGCCCTGCCCCAGGAGGCAGCCGTTCCCTGAGCCTCGCCCGGGAAGAGGGGACAGCCCCTTCCAGGCCCAGGGCTGGGGGTCCCAGGTCTGCCGCAGCCCCTCCCCCGGGCCTCGCTCTGCCAAGGAGGGGTCCTGAGCCCGGGATGTGCACGGGGGCGGCCGGCGGCTGCAGAGATGGGACAGCGCAGGAGCTGAGCGCAGGAGCTGAGGGGGTTCGCGGGGCCAGGGAGGGGCGTCGGCGCCGAGGGGGCAGGACAGACAGCTGCGCTCAGCCCGGGCTGGGGTGGGGGGGTCATGGGAGGGCCCCTCCCCCATCTCAGGAACCCAGAAGCTCACCCTAGTCTGAGGGAGAGCGGCTCGGGAGGATGGCGGAGGACAGGCCAGACCCCTCCCCCCCGCCCTCGCTTGGTCGGGCGGCCCCAGCCCCGCGGGTCCCCGAGAGTCCCGGAGAGTCCAGACCCAGCGCTGCCGCCGTCCCTCCCCGGCCGGCCCTTTGTTCGGCGCAGAGGCCGCGGGGAGGGGCCTCCCAGGCTGAGGAGGGGGCTGGGGCGGCCGCACGTCTCTGTCCTGCGGGCCTGGAGCCCCCACCCCGACCTGAGCGGCCCCGACCCCGGAATCCTTCCTGCCCGCGCGCTGTACAATCGCTCTCCGGTCTCGGCCCAGCACTCCCGCCGGGGAGCGCCGGCCCCGGACCCAGACCCAGGGGCAGGGAGCCAAACCCGCCGCAGCCAGCCTGGCCGGGGTCGCCGATGGGGTCGCCGATGGGGGTCGCCATGGGGGTCGCCACGGGGGCCCCGCCGGCCACTCACACGTAGGCGTGGTAGATGAACGCCCAGCCGCGCGGCCGCTCCAGCACGTTGTAGAGGAAATTCTGCAGCTTGCGGTAGAAGGCGTTGCGCTTGGGGGGCTTCCCGGCGCCCGCGCCGCCCGCGCGAGGTTTGCTGAGGATGCTGCCGCGCTTGGGGGCCTCGGAGCCGGCGATCAGCAGCGCCCCGTCCCGGGTGGAGTCGGGCGCGCCGGGGTCCAGCCCCACGAAGCCCACCTTCAGCTTCTTCTCCCCGCTCGGGCCGGGGTATACGCCGCCGTTGCGCGACTTCTGCACCATGGTGCCTGGCGGGAGGCGCCCCGGGTCGGGCTCAGGCTCAGCGGGGGCGGAGCGCGGGGGGCGGCGCGGGCCCCAGCCCAGGCCCCCCGGCCGGGAGCCGCATGGCCGAGGCGGCGGTTCCGCACTCCTGCCGGGCTTGGGCCGCGCGCGGAGACGCTGCGGCCACCTCGCTCCGCGCGCACCTCGGCGCCTGGCCCGCGGCCGCGCCGGCTCCGCCCGCCGCCTCGCCCCGCCCCGCGTTAACCCCCGCGACGCCAGTCGAAGGAGAGGGGAGGAGAAGAGAGGGAGGGGAAGGGAGGGGAGAGGGAGGGACGGGGAGGGGAGGGGAGGGGGGAAGGAGAGGAGAGGGGAGGAGAGAAGAGGGAAAGGGAGGGGAGGGGAGGGAGAGGGGACGGGGAGAGGGGAGACAGGAGGGGAGGGGGAGGGGAGGAGAGGGGAATGGGAGGGGAGGAGAGTGGCGGGGACGGGGAGAGGGGAGACAGGAGTGGAGGGGGGAGACAGGAGTGGAGGGGGAGGGGAGGGGGGAGAGGAGGGGGAGTGGGGGAGGGGGAGGGGAGGGCAGGGGGAGAGGAGGGGGAGGCAGAAGGGACCAAGGCCCGCGGGACCAGAGCTCTGGGCTGAGCCTGCCCAATCCCCCGGCCATGTGCACACTGACCCTGCGGTCACCTTTGAGTCCGGTAGTACTAACCAAGTGGACCTGCCTGGTGGCCCCAGCGCTCCTGGGGTCCCAGAGCGGTGCCCAGCCGCCTGAGCAGGACTGGAGTCTTCTCAGCTGGGCCCTGGGAGTGGACGCCTCCGGGAAGGGATGGGGGTAGGGGCTCTCCCCAAGACTCTGTTAGGGCTCAGCCCATGGTGACCTCATGCTCTCGGTGTCAGGGTTGCCCAGGCAGTAGGACCCCCTAGACCCCAGGGTGTGTGCAGGGAGGGTCTGTGGAGGCTGGAGGCACCCTGCAAGGAAAGCAGCCCAGGGGAAAGGGGGTGGCCACAGAGGCCGGGAGGCAAGAAGAGGAGCAAGGGCCATGGGGTGGGGGATGGGAGAGAGTCACTCCTAGAGGGCCTTGAAGCCCCCCAAGGGGCCTGGACTTAGTTATGCAGACCCCAGAAGGGGCCTGTGGCAGGGGCAGGGACTGGAGGGTGGCCCCAGGGCAGCAGACAGGCCAGCAGGAAGCCCAGTGCCACACCTCGGGACAAAGGAGGCAGATCTGTGCCTCCTGGACACAGATGGGACGGTGTTTCCTTGGGGGCAAGTGCGCGGAGGTGGCCTCCCCCCTGCCGGCAGCCATGTGTCCTGGGAGGGGTCCCTCTGGAGCTGCTGCTGGGAGACCAAGGGACCCCTGCGGCTCAGTGCTGCCCGCCCTGTGAGGTGCCCCGCCACTGGGCCTTCCTCTGCACATCCAGGAGGGGTGTCATCTTCGAGTGCGTCTCTGACTACATCCAGCCTGTTTGCACGTTCGCCTGGCACCATGGGTTCTACCCAGAGAAAGGCCCTCTGCTGAATCGCTGGCGCCGTCCTCGCAGGTGACCTGCTCATAAAACAGCCCTAACCCTGGTGCAGAGTGAGCTCTTGAGTTGTGTTTGCCCTTTGGTTTCCAGAGCTAGTGGCCACGGGGCCTGTTTTTGTTGTTGTTGTTTTGTTTTTAACTAGGCTGAATACAGAAGGGTCGGTGCAGGCAGAATGCTAACCTGTACGTTATCCAGGACGTTGGGGATAGACGGCAACTTACACAAGCTTGTGCACATCCAGGGGTACTTTCTGGATCCCCGCCTCCCTGCCTCTGTGCCCACGCATTGGCTGTGATTACCAGCATGAAGTGGGCTTGCCCCAAGCGGCTGCGGTTTCTCTCGATTGTTAAGGGAGGAGGCACCAGCCTGGTGCTTTCAGGGGAGGGAGAGGACTTCAGTA
|
CAAAGGAGCTGAGGAGAGGCCTAGTGCAGGCTGGAAGGCGGGGCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCTTGGATCATGGACTCAAAGCAGAACCAACCCTGGGTCAGACGCAGAGCGGGGCGCTGGCCAGGCTGTCAGGGCAGGAGGGTTGTGGGGGTGGGTTCTATCCTACCCTCCTCCGGGGAGTCACCTTGGGCAGGGACCTGGCTGACCAGTACCGGCCCACCAAGAGCCCCTTTGGCCCCCAGCCAGGTGGGGGCCATCAGGGGAGGCCATTCCTGAGAACACAGAAGCTCATCTGGGGATTCGGGAATGAACCCTGGACTGGAAAAGCTAGACTCACCTCCTGGGGGCCACAGGGCTTCCAGGACCCAGGAGGTCGGAGAAGCTTCTGCTTGGGGAGTCCCAGGCTGGGTGCCCAGGGGCCCTCCACGGAGACACCCTCCCTGTAAGCGGCCTGGCATTTCCCTCTGGGATCTTCTCCCTACCCCAGAACCCTCTCATATCACAGTCCACGGAGGGTCTGCTAAGGGCACACTCAAGGCCACACGCAGGCTGGGGCACACTCGTGGGGCACACACCCCTCTCGGCCCAGGTGGGCGCCCGACCAGCTTGTGACCAGTCTGCCCCTCACTCCCATCCCAAAATGCCTCTCACACAAAATGGCCGGTCCCGGAGCTCAGCGGGTCCCTTGTTCAGCTGGGATGGGAGAGCAAGCGCCCTGGCGCGGGGAGGCTGTGCACACCGGCCGCACAGGCCGCACACGCAGCGGGCCGTGCAATTCCACATGCGAACACCCAGGTGCACACGGACGCAGGCTTCGGCCGCCCCCCGCCAGCCCTGCCCCAGGAGGCAGCCGTTCCCTGAGCCTCGCCCGGGAAGAGGGGACAGCCCCTTCCAGGCCCAGGGCTGGGGGTCCCAGGTCTGCCGCAGCCCCTCCCCCGGGCCTCGCTCTGCCAAGGAGGGGTCCTGAGCCCGGGATGTGCACGGGGGCGGCCGGCGGCTGCAGAGATGGGACAGCGCAGGAGCTGAGCGCAGGAGCTGAGGGGGTTCGCGGGGCCAGGGAGGGGCGTCGGCGCCGAGGGGGCAGGACAGACAGCTGCGCTCAGCCCGGGCTGGGGTGGGGGGGTCATGGGAGGGCCCCTCCCCCATCTCAGGAACCCAGAAGCTCACCCTAGTCTGAGGGAGAGCGGCTCGGGAGGATGGCGGAGGACAGGCCAGACCCCTCCCCCCCGCCCTCGCTTGGTCGGGCGGCCCCAGCCCCGCGGGTCCCCGAGAGTCCCGGAGAGTCCAGACCCAGCGCTGCCGCCGTCCCTCCCCGGCCGGCCCTTTGTTCGGCGCAGAGGCCGCGGGGAGGGGCCTCCCAGGCTGAGGAGGGGGCTGGGGCGGCCGCACGTCTCTGTCCTGCGGGCCTGGAGCCCCCACCCCGACCTGAGCGGCCCCGACCCCGGAATCCTTCCTGCCCGCGCGCTGTACAATCGCTCTCCGGTCTCGGCCCAGCACTCCCGCCGGGGAGCGCCGGCCCCGGACCCAGACCCAGGGGCAGGGAGCCAAACCCGCCGCAGCCAGCCTGGCCGGGGTCGCCGATGGGGTCGCCGATGGGGGTCGCCATGGGGGTCGCCACGGGGGCCCCGCCGGCCACTCACACGTAGGCGTGGTAGATGAACGCCCAGCCGCGCGGCCGCTCCAGCACGTTGTAGAGGAAATTCTGCAGCTTGCGGTAGAAGGCGTTGCGCTTGGGGGGCTTCCCGGCGCCCGCGCCGCCCGCGCGAGGTTTGCTGAGGATGCTGCCGCGCTTGGGGCCTCGGAGCCGGCGATCAGCAGCGCCCCGTCCCGGGTGGAGTCGGGCGCGCCGGGGTCCAGCCCCACGAAGCCCACCTTCAGCTTCTTCTCCCCGCTCGGGCCGGGGTATACGCCGCCGTTGCGCGACTTCTGCACCATGGTGCCTGGCGGGAGGCGCCCCGGGTCGGGCTCAGGCTCAGCGGGGGCGGAGCGCGGGGGGCGGCGCGGGCCCCAGCCCAGGCCCCCCGGCCGGGAGCCGCATGGCCGAGGCGGCGGTTCCGCACTCCTGCCGGGCTTGGGCCGCGCGCGGAGACGCTGCGGCCACCTCGCTCCGCGCGCACCTCGGCGCCTGGCCCGCGGCCGCGCCGGCTCCGCCCGCCGCCTCGCCCCGCCCCGCGTTAACCCCCGCGACGCCAGTCGAAGGAGAGGGGAGGAGAAGAGAGGGAGGGGAAGGGAGGGGAGAGGGAGGGACGGGGAGGGGAGGGGAGGGGGGAAGGAGAGGAGAGGGGAGGAGAGAAGAGGGAAAGGGAGGGGAGGGGAGGGAGAGGGGACGGGGAGAGGGGAGACAGGAGGGGAGGGGGAGGGGAGGAGAGGGGAATGGGAGGGGAGGAGAGTGGCGGGGACGGGGAGAGGGGAGACAGGAGTGGAGGGGGGAGACAGGAGTGGAGGGGGAGGGGAGGGGGGAGAGGAGGGGGAGTGGGGGAGGGGGAGGGGAGGGCAGGGGGAGAGGAGGGGGAGGCAGAAGGGACCAAGGCCCGCGGGACCAGAGCTCTGGGCTGAGCCTGCCCAATCCCCCGGCCATGTGCACACTGACCCTGCGGTCACCTTTGAGTCCGGTAGTACTAACCAAGTGGACCTGCCTGGTGGCCCCAGCGCTCCTGGGGTCCCAGAGCGGTGCCCAGCCGCCTGAGCAGGACTGGAGTCTTCTCAGCTGGGCCCTGGGAGTGGACGCCTCCGGGAAGGGATGGGGGTAGGGGCTCTCCCCAAGACTCTGTTAGGGCTCAGCCCATGGTGACCTCATGCTCTCGGTGTCAGGGTTGCCCAGGCAGTAGGACCCCCTAGACCCCAGGGTGTGTGCAGGGAGGGTCTGTGGAGGCTGGAGGCACCCTGCAAGGAAAGCAGCCCAGGGGAAAGGGGGTGGCCACAGAGGCCGGGAGGCAAGAAGAGGAGCAAGGGCCATGGGGTGGGGGATGGGAGAGAGTCACTCCTAGAGGGCCTTGAAGCCCCCCAAGGGGCCTGGACTTAGTTATGCAGACCCCAGAAGGGGCCTGTGGCAGGGGCAGGGACTGGAGGGTGGCCCCAGGGCAGCAGACAGGCCAGCAGGAAGCCCAGTGCCACACCTCGGGACAAAGGAGGCAGATCTGTGCCTCCTGGACACAGATGGGACGGTGTTTCCTTGGGGGCAAGTGCGCGGAGGTGGCCTCCCCCCTGCCGGCAGCCATGTGTCCTGGGAGGGGTCCCTCTGGAGCTGCTGCTGGGAGACCAAGGGACCCCTGCGGCTCAGTGCTGCCCGCCCTGTGAGGTGCCCCGCCACTGGGCCTTCCTCTGCACATCCAGGAGGGGTGTCATCTTCGAGTGCGTCTCTGACTACATCCAGCCTGTTTGCACGTTCGCCTGGCACCATGGGTTCTACCCAGAGAAAGGCCCTCTGCTGAATCGCTGGCGCCGTCCTCGCAGGTGACCTGCTCATAAAACAGCCCTAACCCTGGTGCAGAGTGAGCTCTTGAGTTGTGTTTGCCCTTTGGTTTCCAGAGCTAGTGGCCACGGGGCCTGTTTTTGTTGTTGTTGTTTTGTTTTTAACTAGGCTGAATACAGAAGGGTCGGTGCAGGCAGAATGCTAACCTGTACGTTATCCAGGACGTTGGGGATAGACGGCAACTTACACAAGCTTGTGCACATCCAGGGGTACTTTCTGGATCCCCGCCTCCCTGCCTCTGTGCCCACGCATTGGCTGTGATTACCAGCATGAAGTGGGCTTGCCCCAAGCGGCTGCGGTTTCTCTCGATTGTTAAGGGAGGAGGCACCAGCCTGGTGCTTTCAGGGGAGGGAGAGGACTTCAGTAN
|
pathogenic
| 316,400 |
Determine whether the variant at chromosome 20, position 63472357, in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Inborn_genetic_diseases']
|
CGGGGCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCTTGGATCATGGACTCAAAGCAGAACCAACCCTGGGTCAGACGCAGAGCGGGGCGCTGGCCAGGCTGTCAGGGCAGGAGGGTTGTGGGGGTGGGTTCTATCCTACCCTCCTCCGGGGAGTCACCTTGGGCAGGGACCTGGCTGACCAGTACCGGCCCACCAAGAGCCCCTTTGGCCCCCAGCCAGGTGGGGGCCATCAGGGGAGGCCATTCCTGAGAACACAGAAGCTCATCTGGGGATTCGGGAATGAACCCTGGACTGGAAAAGCTAGACTCACCTCCTGGGGGCCACAGGGCTTCCAGGACCCAGGAGGTCGGAGAAGCTTCTGCTTGGGGAGTCCCAGGCTGGGTGCCCAGGGGCCCTCCACGGAGACACCCTCCCTGTAAGCGGCCTGGCATTTCCCTCTGGGATCTTCTCCCTACCCCAGAACCCTCTCATATCACAGTCCACGGAGGGTCTGCTAAGGGCACACTCAAGGCCACACGCAGGCTGGGGCACACTCGTGGGGCACACACCCCTCTCGGCCCAGGTGGGCGCCCGACCAGCTTGTGACCAGTCTGCCCCTCACTCCCATCCCAAAATGCCTCTCACACAAAATGGCCGGTCCCGGAGCTCAGCGGGTCCCTTGTTCAGCTGGGATGGGAGAGCAAGCGCCCTGGCGCGGGGAGGCTGTGCACACCGGCCGCACAGGCCGCACACGCAGCGGGCCGTGCAATTCCACATGCGAACACCCAGGTGCACACGGACGCAGGCTTCGGCCGCCCCCCGCCAGCCCTGCCCCAGGAGGCAGCCGTTCCCTGAGCCTCGCCCGGGAAGAGGGGACAGCCCCTTCCAGGCCCAGGGCTGGGGGTCCCAGGTCTGCCGCAGCCCCTCCCCCGGGCCTCGCTCTGCCAAGGAGGGGTCCTGAGCCCGGGATGTGCACGGGGGCGGCCGGCGGCTGCAGAGATGGGACAGCGCAGGAGCTGAGCGCAGGAGCTGAGGGGGTTCGCGGGGCCAGGGAGGGGCGTCGGCGCCGAGGGGGCAGGACAGACAGCTGCGCTCAGCCCGGGCTGGGGTGGGGGGGTCATGGGAGGGCCCCTCCCCCATCTCAGGAACCCAGAAGCTCACCCTAGTCTGAGGGAGAGCGGCTCGGGAGGATGGCGGAGGACAGGCCAGACCCCTCCCCCCCGCCCTCGCTTGGTCGGGCGGCCCCAGCCCCGCGGGTCCCCGAGAGTCCCGGAGAGTCCAGACCCAGCGCTGCCGCCGTCCCTCCCCGGCCGGCCCTTTGTTCGGCGCAGAGGCCGCGGGGAGGGGCCTCCCAGGCTGAGGAGGGGGCTGGGGCGGCCGCACGTCTCTGTCCTGCGGGCCTGGAGCCCCCACCCCGACCTGAGCGGCCCCGACCCCGGAATCCTTCCTGCCCGCGCGCTGTACAATCGCTCTCCGGTCTCGGCCCAGCACTCCCGCCGGGGAGCGCCGGCCCCGGACCCAGACCCAGGGGCAGGGAGCCAAACCCGCCGCAGCCAGCCTGGCCGGGGTCGCCGATGGGGTCGCCGATGGGGGTCGCCATGGGGGTCGCCACGGGGGCCCCGCCGGCCACTCACACGTAGGCGTGGTAGATGAACGCCCAGCCGCGCGGCCGCTCCAGCACGTTGTAGAGGAAATTCTGCAGCTTGCGGTAGAAGGCGTTGCGCTTGGGGGGCTTCCCGGCGCCCGCGCCGCCCGCGCGAGGTTTGCTGAGGATGCTGCCGCGCTTGGGGGCCTCGGAGCCGGCGATCAGCAGCGCCCCGTCCCGGGTGGAGTCGGGCGCGCCGGGGTCCAGCCCCACGAAGCCCACCTTCAGCTTCTTCTCCCCGCTCGGGCCGGGGTATACGCCGCCGTTGCGCGACTTCTGCACCATGGTGCCTGGCGGGAGGCGCCCCGGGTCGGGCTCAGGCTCAGCGGGGGCGGAGCGCGGGGGGCGGCGCGGGCCCCAGCCCAGGCCCCCCGGCCGGGAGCCGCATGGCCGAGGCGGCGGTTCCGCACTCCTGCCGGGCTTGGGCCGCGCGCGGAGACGCTGCGGCCACCTCGCTCCGCGCGCACCTCGGCGCCTGGCCCGCGGCCGCGCCGGCTCCGCCCGCCGCCTCGCCCCGCCCCGCGTTAACCCCCGCGACGCCAGTCGAAGGAGAGGGGAGGAGAAGAGAGGGAGGGGAAGGGAGGGGAGAGGGAGGGACGGGGAGGGGAGGGGAGGGGGGAAGGAGAGGAGAGGGGAGGAGAGAAGAGGGAAAGGGAGGGGAGGGGAGGGAGAGGGGACGGGGAGAGGGGAGACAGGAGGGGAGGGGGAGGGGAGGAGAGGGGAATGGGAGGGGAGGAGAGTGGCGGGGACGGGGAGAGGGGAGACAGGAGTGGAGGGGGGAGACAGGAGTGGAGGGGGAGGGGAGGGGGGAGAGGAGGGGGAGTGGGGGAGGGGGAGGGGAGGGCAGGGGGAGAGGAGGGGGAGGCAGAAGGGACCAAGGCCCGCGGGACCAGAGCTCTGGGCTGAGCCTGCCCAATCCCCCGGCCATGTGCACACTGACCCTGCGGTCACCTTTGAGTCCGGTAGTACTAACCAAGTGGACCTGCCTGGTGGCCCCAGCGCTCCTGGGGTCCCAGAGCGGTGCCCAGCCGCCTGAGCAGGACTGGAGTCTTCTCAGCTGGGCCCTGGGAGTGGACGCCTCCGGGAAGGGATGGGGGTAGGGGCTCTCCCCAAGACTCTGTTAGGGCTCAGCCCATGGTGACCTCATGCTCTCGGTGTCAGGGTTGCCCAGGCAGTAGGACCCCCTAGACCCCAGGGTGTGTGCAGGGAGGGTCTGTGGAGGCTGGAGGCACCCTGCAAGGAAAGCAGCCCAGGGGAAAGGGGGTGGCCACAGAGGCCGGGAGGCAAGAAGAGGAGCAAGGGCCATGGGGTGGGGGATGGGAGAGAGTCACTCCTAGAGGGCCTTGAAGCCCCCCAAGGGGCCTGGACTTAGTTATGCAGACCCCAGAAGGGGCCTGTGGCAGGGGCAGGGACTGGAGGGTGGCCCCAGGGCAGCAGACAGGCCAGCAGGAAGCCCAGTGCCACACCTCGGGACAAAGGAGGCAGATCTGTGCCTCCTGGACACAGATGGGACGGTGTTTCCTTGGGGGCAAGTGCGCGGAGGTGGCCTCCCCCCTGCCGGCAGCCATGTGTCCTGGGAGGGGTCCCTCTGGAGCTGCTGCTGGGAGACCAAGGGACCCCTGCGGCTCAGTGCTGCCCGCCCTGTGAGGTGCCCCGCCACTGGGCCTTCCTCTGCACATCCAGGAGGGGTGTCATCTTCGAGTGCGTCTCTGACTACATCCAGCCTGTTTGCACGTTCGCCTGGCACCATGGGTTCTACCCAGAGAAAGGCCCTCTGCTGAATCGCTGGCGCCGTCCTCGCAGGTGACCTGCTCATAAAACAGCCCTAACCCTGGTGCAGAGTGAGCTCTTGAGTTGTGTTTGCCCTTTGGTTTCCAGAGCTAGTGGCCACGGGGCCTGTTTTTGTTGTTGTTGTTTTGTTTTTAACTAGGCTGAATACAGAAGGGTCGGTGCAGGCAGAATGCTAACCTGTACGTTATCCAGGACGTTGGGGATAGACGGCAACTTACACAAGCTTGTGCACATCCAGGGGTACTTTCTGGATCCCCGCCTCCCTGCCTCTGTGCCCACGCATTGGCTGTGATTACCAGCATGAAGTGGGCTTGCCCCAAGCGGCTGCGGTTTCTCTCGATTGTTAAGGGAGGAGGCACCAGCCTGGTGCTTTCAGGGGAGGGAGAGGACTTCAGTATGCAGAAGGAAGAGAGCACCGTGGCATCTCCCTGCACA
|
CGGGGCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCTTGGATCATGGACTCAAAGCAGAACCAACCCTGGGTCAGACGCAGAGCGGGGCGCTGGCCAGGCTGTCAGGGCAGGAGGGTTGTGGGGGTGGGTTCTATCCTACCCTCCTCCGGGGAGTCACCTTGGGCAGGGACCTGGCTGACCAGTACCGGCCCACCAAGAGCCCCTTTGGCCCCCAGCCAGGTGGGGGCCATCAGGGGAGGCCATTCCTGAGAACACAGAAGCTCATCTGGGGATTCGGGAATGAACCCTGGACTGGAAAAGCTAGACTCACCTCCTGGGGGCCACAGGGCTTCCAGGACCCAGGAGGTCGGAGAAGCTTCTGCTTGGGGAGTCCCAGGCTGGGTGCCCAGGGGCCCTCCACGGAGACACCCTCCCTGTAAGCGGCCTGGCATTTCCCTCTGGGATCTTCTCCCTACCCCAGAACCCTCTCATATCACAGTCCACGGAGGGTCTGCTAAGGGCACACTCAAGGCCACACGCAGGCTGGGGCACACTCGTGGGGCACACACCCCTCTCGGCCCAGGTGGGCGCCCGACCAGCTTGTGACCAGTCTGCCCCTCACTCCCATCCCAAAATGCCTCTCACACAAAATGGCCGGTCCCGGAGCTCAGCGGGTCCCTTGTTCAGCTGGGATGGGAGAGCAAGCGCCCTGGCGCGGGGAGGCTGTGCACACCGGCCGCACAGGCCGCACACGCAGCGGGCCGTGCAATTCCACATGCGAACACCCAGGTGCACACGGACGCAGGCTTCGGCCGCCCCCCGCCAGCCCTGCCCCAGGAGGCAGCCGTTCCCTGAGCCTCGCCCGGGAAGAGGGGACAGCCCCTTCCAGGCCCAGGGCTGGGGGTCCCAGGTCTGCCGCAGCCCCTCCCCCGGGCCTCGCTCTGCCAAGGAGGGGTCCTGAGCCCGGGATGTGCACGGGGGCGGCCGGCGGCTGCAGAGATGGGACAGCGCAGGAGCTGAGCGCAGGAGCTGAGGGGGTTCGCGGGGCCAGGGAGGGGCGTCGGCGCCGAGGGGGCAGGACAGACAGCTGCGCTCAGCCCGGGCTGGGGTGGGGGGGTCATGGGAGGGCCCCTCCCCCATCTCAGGAACCCAGAAGCTCACCCTAGTCTGAGGGAGAGCGGCTCGGGAGGATGGCGGAGGACAGGCCAGACCCCTCCCCCCCGCCCTCGCTTGGTCGGGCGGCCCCAGCCCCGCGGGTCCCCGAGAGTCCCGGAGAGTCCAGACCCAGCGCTGCCGCCGTCCCTCCCCGGCCGGCCCTTTGTTCGGCGCAGAGGCCGCGGGGAGGGGCCTCCCAGGCTGAGGAGGGGGCTGGGGCGGCCGCACGTCTCTGTCCTGCGGGCCTGGAGCCCCCACCCCGACCTGAGCGGCCCCGACCCCGGAATCCTTCCTGCCCGCGCGCTGTACAATCGCTCTCCGGTCTCGGCCCAGCACTCCCGCCGGGGAGCGCCGGCCCCGGACCCAGACCCAGGGGCAGGGAGCCAAACCCGCCGCAGCCAGCCTGGCCGGGGTCGCCGATGGGGTCGCCGATGGGGGTCGCCATGGGGGTCGCCACGGGGGCCCCGCCGGCCACTCACACGTAGGCGTGGTAGATGAACGCCCAGCCGCGCGGCCGCTCCAGCACGTTGTAGAGGAAATTCTGCAGCTTGCGGTAGAAGGCGTTGCGCTTGGGGGGCTTCCCGGCGCCCGCGCCGCCCGCGCGAGGTTTGCTGAGGATGCTGCCGCGCTTGGGGGCCTCGGAGCCGGCGATCAGCAGCGCCCCGTCCCGGTGGAGTCGGGCGCGCCGGGGTCCAGCCCCACGAAGCCCACCTTCAGCTTCTTCTCCCCGCTCGGGCCGGGGTATACGCCGCCGTTGCGCGACTTCTGCACCATGGTGCCTGGCGGGAGGCGCCCCGGGTCGGGCTCAGGCTCAGCGGGGGCGGAGCGCGGGGGGCGGCGCGGGCCCCAGCCCAGGCCCCCCGGCCGGGAGCCGCATGGCCGAGGCGGCGGTTCCGCACTCCTGCCGGGCTTGGGCCGCGCGCGGAGACGCTGCGGCCACCTCGCTCCGCGCGCACCTCGGCGCCTGGCCCGCGGCCGCGCCGGCTCCGCCCGCCGCCTCGCCCCGCCCCGCGTTAACCCCCGCGACGCCAGTCGAAGGAGAGGGGAGGAGAAGAGAGGGAGGGGAAGGGAGGGGAGAGGGAGGGACGGGGAGGGGAGGGGAGGGGGGAAGGAGAGGAGAGGGGAGGAGAGAAGAGGGAAAGGGAGGGGAGGGGAGGGAGAGGGGACGGGGAGAGGGGAGACAGGAGGGGAGGGGGAGGGGAGGAGAGGGGAATGGGAGGGGAGGAGAGTGGCGGGGACGGGGAGAGGGGAGACAGGAGTGGAGGGGGGAGACAGGAGTGGAGGGGGAGGGGAGGGGGGAGAGGAGGGGGAGTGGGGGAGGGGGAGGGGAGGGCAGGGGGAGAGGAGGGGGAGGCAGAAGGGACCAAGGCCCGCGGGACCAGAGCTCTGGGCTGAGCCTGCCCAATCCCCCGGCCATGTGCACACTGACCCTGCGGTCACCTTTGAGTCCGGTAGTACTAACCAAGTGGACCTGCCTGGTGGCCCCAGCGCTCCTGGGGTCCCAGAGCGGTGCCCAGCCGCCTGAGCAGGACTGGAGTCTTCTCAGCTGGGCCCTGGGAGTGGACGCCTCCGGGAAGGGATGGGGGTAGGGGCTCTCCCCAAGACTCTGTTAGGGCTCAGCCCATGGTGACCTCATGCTCTCGGTGTCAGGGTTGCCCAGGCAGTAGGACCCCCTAGACCCCAGGGTGTGTGCAGGGAGGGTCTGTGGAGGCTGGAGGCACCCTGCAAGGAAAGCAGCCCAGGGGAAAGGGGGTGGCCACAGAGGCCGGGAGGCAAGAAGAGGAGCAAGGGCCATGGGGTGGGGGATGGGAGAGAGTCACTCCTAGAGGGCCTTGAAGCCCCCCAAGGGGCCTGGACTTAGTTATGCAGACCCCAGAAGGGGCCTGTGGCAGGGGCAGGGACTGGAGGGTGGCCCCAGGGCAGCAGACAGGCCAGCAGGAAGCCCAGTGCCACACCTCGGGACAAAGGAGGCAGATCTGTGCCTCCTGGACACAGATGGGACGGTGTTTCCTTGGGGGCAAGTGCGCGGAGGTGGCCTCCCCCCTGCCGGCAGCCATGTGTCCTGGGAGGGGTCCCTCTGGAGCTGCTGCTGGGAGACCAAGGGACCCCTGCGGCTCAGTGCTGCCCGCCCTGTGAGGTGCCCCGCCACTGGGCCTTCCTCTGCACATCCAGGAGGGGTGTCATCTTCGAGTGCGTCTCTGACTACATCCAGCCTGTTTGCACGTTCGCCTGGCACCATGGGTTCTACCCAGAGAAAGGCCCTCTGCTGAATCGCTGGCGCCGTCCTCGCAGGTGACCTGCTCATAAAACAGCCCTAACCCTGGTGCAGAGTGAGCTCTTGAGTTGTGTTTGCCCTTTGGTTTCCAGAGCTAGTGGCCACGGGGCCTGTTTTTGTTGTTGTTGTTTTGTTTTTAACTAGGCTGAATACAGAAGGGTCGGTGCAGGCAGAATGCTAACCTGTACGTTATCCAGGACGTTGGGGATAGACGGCAACTTACACAAGCTTGTGCACATCCAGGGGTACTTTCTGGATCCCCGCCTCCCTGCCTCTGTGCCCACGCATTGGCTGTGATTACCAGCATGAAGTGGGCTTGCCCCAAGCGGCTGCGGTTTCTCTCGATTGTTAAGGGAGGAGGCACCAGCCTGGTGCTTTCAGGGGAGGGAGAGGACTTCAGTATGCAGAAGGAAGAGAGCACCGTGGCATCTCCCTGCACAN
|
pathogenic
| 316,401 |
Determine if the mutation at chromosome 20, position 63472361 in gene KCNQ2 (potassium voltage-gated channel subfamily Q member 2) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts']
|
GCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCTTGGATCATGGACTCAAAGCAGAACCAACCCTGGGTCAGACGCAGAGCGGGGCGCTGGCCAGGCTGTCAGGGCAGGAGGGTTGTGGGGGTGGGTTCTATCCTACCCTCCTCCGGGGAGTCACCTTGGGCAGGGACCTGGCTGACCAGTACCGGCCCACCAAGAGCCCCTTTGGCCCCCAGCCAGGTGGGGGCCATCAGGGGAGGCCATTCCTGAGAACACAGAAGCTCATCTGGGGATTCGGGAATGAACCCTGGACTGGAAAAGCTAGACTCACCTCCTGGGGGCCACAGGGCTTCCAGGACCCAGGAGGTCGGAGAAGCTTCTGCTTGGGGAGTCCCAGGCTGGGTGCCCAGGGGCCCTCCACGGAGACACCCTCCCTGTAAGCGGCCTGGCATTTCCCTCTGGGATCTTCTCCCTACCCCAGAACCCTCTCATATCACAGTCCACGGAGGGTCTGCTAAGGGCACACTCAAGGCCACACGCAGGCTGGGGCACACTCGTGGGGCACACACCCCTCTCGGCCCAGGTGGGCGCCCGACCAGCTTGTGACCAGTCTGCCCCTCACTCCCATCCCAAAATGCCTCTCACACAAAATGGCCGGTCCCGGAGCTCAGCGGGTCCCTTGTTCAGCTGGGATGGGAGAGCAAGCGCCCTGGCGCGGGGAGGCTGTGCACACCGGCCGCACAGGCCGCACACGCAGCGGGCCGTGCAATTCCACATGCGAACACCCAGGTGCACACGGACGCAGGCTTCGGCCGCCCCCCGCCAGCCCTGCCCCAGGAGGCAGCCGTTCCCTGAGCCTCGCCCGGGAAGAGGGGACAGCCCCTTCCAGGCCCAGGGCTGGGGGTCCCAGGTCTGCCGCAGCCCCTCCCCCGGGCCTCGCTCTGCCAAGGAGGGGTCCTGAGCCCGGGATGTGCACGGGGGCGGCCGGCGGCTGCAGAGATGGGACAGCGCAGGAGCTGAGCGCAGGAGCTGAGGGGGTTCGCGGGGCCAGGGAGGGGCGTCGGCGCCGAGGGGGCAGGACAGACAGCTGCGCTCAGCCCGGGCTGGGGTGGGGGGGTCATGGGAGGGCCCCTCCCCCATCTCAGGAACCCAGAAGCTCACCCTAGTCTGAGGGAGAGCGGCTCGGGAGGATGGCGGAGGACAGGCCAGACCCCTCCCCCCCGCCCTCGCTTGGTCGGGCGGCCCCAGCCCCGCGGGTCCCCGAGAGTCCCGGAGAGTCCAGACCCAGCGCTGCCGCCGTCCCTCCCCGGCCGGCCCTTTGTTCGGCGCAGAGGCCGCGGGGAGGGGCCTCCCAGGCTGAGGAGGGGGCTGGGGCGGCCGCACGTCTCTGTCCTGCGGGCCTGGAGCCCCCACCCCGACCTGAGCGGCCCCGACCCCGGAATCCTTCCTGCCCGCGCGCTGTACAATCGCTCTCCGGTCTCGGCCCAGCACTCCCGCCGGGGAGCGCCGGCCCCGGACCCAGACCCAGGGGCAGGGAGCCAAACCCGCCGCAGCCAGCCTGGCCGGGGTCGCCGATGGGGTCGCCGATGGGGGTCGCCATGGGGGTCGCCACGGGGGCCCCGCCGGCCACTCACACGTAGGCGTGGTAGATGAACGCCCAGCCGCGCGGCCGCTCCAGCACGTTGTAGAGGAAATTCTGCAGCTTGCGGTAGAAGGCGTTGCGCTTGGGGGGCTTCCCGGCGCCCGCGCCGCCCGCGCGAGGTTTGCTGAGGATGCTGCCGCGCTTGGGGGCCTCGGAGCCGGCGATCAGCAGCGCCCCGTCCCGGGTGGAGTCGGGCGCGCCGGGGTCCAGCCCCACGAAGCCCACCTTCAGCTTCTTCTCCCCGCTCGGGCCGGGGTATACGCCGCCGTTGCGCGACTTCTGCACCATGGTGCCTGGCGGGAGGCGCCCCGGGTCGGGCTCAGGCTCAGCGGGGGCGGAGCGCGGGGGGCGGCGCGGGCCCCAGCCCAGGCCCCCCGGCCGGGAGCCGCATGGCCGAGGCGGCGGTTCCGCACTCCTGCCGGGCTTGGGCCGCGCGCGGAGACGCTGCGGCCACCTCGCTCCGCGCGCACCTCGGCGCCTGGCCCGCGGCCGCGCCGGCTCCGCCCGCCGCCTCGCCCCGCCCCGCGTTAACCCCCGCGACGCCAGTCGAAGGAGAGGGGAGGAGAAGAGAGGGAGGGGAAGGGAGGGGAGAGGGAGGGACGGGGAGGGGAGGGGAGGGGGGAAGGAGAGGAGAGGGGAGGAGAGAAGAGGGAAAGGGAGGGGAGGGGAGGGAGAGGGGACGGGGAGAGGGGAGACAGGAGGGGAGGGGGAGGGGAGGAGAGGGGAATGGGAGGGGAGGAGAGTGGCGGGGACGGGGAGAGGGGAGACAGGAGTGGAGGGGGGAGACAGGAGTGGAGGGGGAGGGGAGGGGGGAGAGGAGGGGGAGTGGGGGAGGGGGAGGGGAGGGCAGGGGGAGAGGAGGGGGAGGCAGAAGGGACCAAGGCCCGCGGGACCAGAGCTCTGGGCTGAGCCTGCCCAATCCCCCGGCCATGTGCACACTGACCCTGCGGTCACCTTTGAGTCCGGTAGTACTAACCAAGTGGACCTGCCTGGTGGCCCCAGCGCTCCTGGGGTCCCAGAGCGGTGCCCAGCCGCCTGAGCAGGACTGGAGTCTTCTCAGCTGGGCCCTGGGAGTGGACGCCTCCGGGAAGGGATGGGGGTAGGGGCTCTCCCCAAGACTCTGTTAGGGCTCAGCCCATGGTGACCTCATGCTCTCGGTGTCAGGGTTGCCCAGGCAGTAGGACCCCCTAGACCCCAGGGTGTGTGCAGGGAGGGTCTGTGGAGGCTGGAGGCACCCTGCAAGGAAAGCAGCCCAGGGGAAAGGGGGTGGCCACAGAGGCCGGGAGGCAAGAAGAGGAGCAAGGGCCATGGGGTGGGGGATGGGAGAGAGTCACTCCTAGAGGGCCTTGAAGCCCCCCAAGGGGCCTGGACTTAGTTATGCAGACCCCAGAAGGGGCCTGTGGCAGGGGCAGGGACTGGAGGGTGGCCCCAGGGCAGCAGACAGGCCAGCAGGAAGCCCAGTGCCACACCTCGGGACAAAGGAGGCAGATCTGTGCCTCCTGGACACAGATGGGACGGTGTTTCCTTGGGGGCAAGTGCGCGGAGGTGGCCTCCCCCCTGCCGGCAGCCATGTGTCCTGGGAGGGGTCCCTCTGGAGCTGCTGCTGGGAGACCAAGGGACCCCTGCGGCTCAGTGCTGCCCGCCCTGTGAGGTGCCCCGCCACTGGGCCTTCCTCTGCACATCCAGGAGGGGTGTCATCTTCGAGTGCGTCTCTGACTACATCCAGCCTGTTTGCACGTTCGCCTGGCACCATGGGTTCTACCCAGAGAAAGGCCCTCTGCTGAATCGCTGGCGCCGTCCTCGCAGGTGACCTGCTCATAAAACAGCCCTAACCCTGGTGCAGAGTGAGCTCTTGAGTTGTGTTTGCCCTTTGGTTTCCAGAGCTAGTGGCCACGGGGCCTGTTTTTGTTGTTGTTGTTTTGTTTTTAACTAGGCTGAATACAGAAGGGTCGGTGCAGGCAGAATGCTAACCTGTACGTTATCCAGGACGTTGGGGATAGACGGCAACTTACACAAGCTTGTGCACATCCAGGGGTACTTTCTGGATCCCCGCCTCCCTGCCTCTGTGCCCACGCATTGGCTGTGATTACCAGCATGAAGTGGGCTTGCCCCAAGCGGCTGCGGTTTCTCTCGATTGTTAAGGGAGGAGGCACCAGCCTGGTGCTTTCAGGGGAGGGAGAGGACTTCAGTATGCAGAAGGAAGAGAGCACCGTGGCATCTCCCTGCACACGCT
|
GCTGTTCAGACGTTGAGGGTCTCGCCTGAAGCCCCCGCATGCTGCTGCTCTATCTTAGAGGGGGCCCGTCCGGACTGGGGGTGGTCAGGAAGAGACGGCTCAGACCCCACATGTGCAAGTGTCCCCATGCTTTGCCCCAGTTCTGGACTGCTGCTCTCAGGAGGCAGAGACAGGAAGGAGAGACAGAGGGGCTGACCCACGCAGGCCCAGGCAGGGGGCGGCCATGCGGAGAGCTGCTGACCCAACGGGAAACCTCAGGAACAGCCACGCTGGGCCCTTGGATCATGGACTCAAAGCAGAACCAACCCTGGGTCAGACGCAGAGCGGGGCGCTGGCCAGGCTGTCAGGGCAGGAGGGTTGTGGGGGTGGGTTCTATCCTACCCTCCTCCGGGGAGTCACCTTGGGCAGGGACCTGGCTGACCAGTACCGGCCCACCAAGAGCCCCTTTGGCCCCCAGCCAGGTGGGGGCCATCAGGGGAGGCCATTCCTGAGAACACAGAAGCTCATCTGGGGATTCGGGAATGAACCCTGGACTGGAAAAGCTAGACTCACCTCCTGGGGGCCACAGGGCTTCCAGGACCCAGGAGGTCGGAGAAGCTTCTGCTTGGGGAGTCCCAGGCTGGGTGCCCAGGGGCCCTCCACGGAGACACCCTCCCTGTAAGCGGCCTGGCATTTCCCTCTGGGATCTTCTCCCTACCCCAGAACCCTCTCATATCACAGTCCACGGAGGGTCTGCTAAGGGCACACTCAAGGCCACACGCAGGCTGGGGCACACTCGTGGGGCACACACCCCTCTCGGCCCAGGTGGGCGCCCGACCAGCTTGTGACCAGTCTGCCCCTCACTCCCATCCCAAAATGCCTCTCACACAAAATGGCCGGTCCCGGAGCTCAGCGGGTCCCTTGTTCAGCTGGGATGGGAGAGCAAGCGCCCTGGCGCGGGGAGGCTGTGCACACCGGCCGCACAGGCCGCACACGCAGCGGGCCGTGCAATTCCACATGCGAACACCCAGGTGCACACGGACGCAGGCTTCGGCCGCCCCCCGCCAGCCCTGCCCCAGGAGGCAGCCGTTCCCTGAGCCTCGCCCGGGAAGAGGGGACAGCCCCTTCCAGGCCCAGGGCTGGGGGTCCCAGGTCTGCCGCAGCCCCTCCCCCGGGCCTCGCTCTGCCAAGGAGGGGTCCTGAGCCCGGGATGTGCACGGGGGCGGCCGGCGGCTGCAGAGATGGGACAGCGCAGGAGCTGAGCGCAGGAGCTGAGGGGGTTCGCGGGGCCAGGGAGGGGCGTCGGCGCCGAGGGGGCAGGACAGACAGCTGCGCTCAGCCCGGGCTGGGGTGGGGGGGTCATGGGAGGGCCCCTCCCCCATCTCAGGAACCCAGAAGCTCACCCTAGTCTGAGGGAGAGCGGCTCGGGAGGATGGCGGAGGACAGGCCAGACCCCTCCCCCCCGCCCTCGCTTGGTCGGGCGGCCCCAGCCCCGCGGGTCCCCGAGAGTCCCGGAGAGTCCAGACCCAGCGCTGCCGCCGTCCCTCCCCGGCCGGCCCTTTGTTCGGCGCAGAGGCCGCGGGGAGGGGCCTCCCAGGCTGAGGAGGGGGCTGGGGCGGCCGCACGTCTCTGTCCTGCGGGCCTGGAGCCCCCACCCCGACCTGAGCGGCCCCGACCCCGGAATCCTTCCTGCCCGCGCGCTGTACAATCGCTCTCCGGTCTCGGCCCAGCACTCCCGCCGGGGAGCGCCGGCCCCGGACCCAGACCCAGGGGCAGGGAGCCAAACCCGCCGCAGCCAGCCTGGCCGGGGTCGCCGATGGGGTCGCCGATGGGGGTCGCCATGGGGGTCGCCACGGGGGCCCCGCCGGCCACTCACACGTAGGCGTGGTAGATGAACGCCCAGCCGCGCGGCCGCTCCAGCACGTTGTAGAGGAAATTCTGCAGCTTGCGGTAGAAGGCGTTGCGCTTGGGGGGCTTCCCGGCGCCCGCGCCGCCCGCGCGAGGTTTGCTGAGGATGCTGCCGCGCTTGGGGGCCTCGGAGCCGGCGATCAGCAGCGCCCCGTCCCGGGTGAGTCGGGCGCGCCGGGGTCCAGCCCCACGAAGCCCACCTTCAGCTTCTTCTCCCCGCTCGGGCCGGGGTATACGCCGCCGTTGCGCGACTTCTGCACCATGGTGCCTGGCGGGAGGCGCCCCGGGTCGGGCTCAGGCTCAGCGGGGGCGGAGCGCGGGGGGCGGCGCGGGCCCCAGCCCAGGCCCCCCGGCCGGGAGCCGCATGGCCGAGGCGGCGGTTCCGCACTCCTGCCGGGCTTGGGCCGCGCGCGGAGACGCTGCGGCCACCTCGCTCCGCGCGCACCTCGGCGCCTGGCCCGCGGCCGCGCCGGCTCCGCCCGCCGCCTCGCCCCGCCCCGCGTTAACCCCCGCGACGCCAGTCGAAGGAGAGGGGAGGAGAAGAGAGGGAGGGGAAGGGAGGGGAGAGGGAGGGACGGGGAGGGGAGGGGAGGGGGGAAGGAGAGGAGAGGGGAGGAGAGAAGAGGGAAAGGGAGGGGAGGGGAGGGAGAGGGGACGGGGAGAGGGGAGACAGGAGGGGAGGGGGAGGGGAGGAGAGGGGAATGGGAGGGGAGGAGAGTGGCGGGGACGGGGAGAGGGGAGACAGGAGTGGAGGGGGGAGACAGGAGTGGAGGGGGAGGGGAGGGGGGAGAGGAGGGGGAGTGGGGGAGGGGGAGGGGAGGGCAGGGGGAGAGGAGGGGGAGGCAGAAGGGACCAAGGCCCGCGGGACCAGAGCTCTGGGCTGAGCCTGCCCAATCCCCCGGCCATGTGCACACTGACCCTGCGGTCACCTTTGAGTCCGGTAGTACTAACCAAGTGGACCTGCCTGGTGGCCCCAGCGCTCCTGGGGTCCCAGAGCGGTGCCCAGCCGCCTGAGCAGGACTGGAGTCTTCTCAGCTGGGCCCTGGGAGTGGACGCCTCCGGGAAGGGATGGGGGTAGGGGCTCTCCCCAAGACTCTGTTAGGGCTCAGCCCATGGTGACCTCATGCTCTCGGTGTCAGGGTTGCCCAGGCAGTAGGACCCCCTAGACCCCAGGGTGTGTGCAGGGAGGGTCTGTGGAGGCTGGAGGCACCCTGCAAGGAAAGCAGCCCAGGGGAAAGGGGGTGGCCACAGAGGCCGGGAGGCAAGAAGAGGAGCAAGGGCCATGGGGTGGGGGATGGGAGAGAGTCACTCCTAGAGGGCCTTGAAGCCCCCCAAGGGGCCTGGACTTAGTTATGCAGACCCCAGAAGGGGCCTGTGGCAGGGGCAGGGACTGGAGGGTGGCCCCAGGGCAGCAGACAGGCCAGCAGGAAGCCCAGTGCCACACCTCGGGACAAAGGAGGCAGATCTGTGCCTCCTGGACACAGATGGGACGGTGTTTCCTTGGGGGCAAGTGCGCGGAGGTGGCCTCCCCCCTGCCGGCAGCCATGTGTCCTGGGAGGGGTCCCTCTGGAGCTGCTGCTGGGAGACCAAGGGACCCCTGCGGCTCAGTGCTGCCCGCCCTGTGAGGTGCCCCGCCACTGGGCCTTCCTCTGCACATCCAGGAGGGGTGTCATCTTCGAGTGCGTCTCTGACTACATCCAGCCTGTTTGCACGTTCGCCTGGCACCATGGGTTCTACCCAGAGAAAGGCCCTCTGCTGAATCGCTGGCGCCGTCCTCGCAGGTGACCTGCTCATAAAACAGCCCTAACCCTGGTGCAGAGTGAGCTCTTGAGTTGTGTTTGCCCTTTGGTTTCCAGAGCTAGTGGCCACGGGGCCTGTTTTTGTTGTTGTTGTTTTGTTTTTAACTAGGCTGAATACAGAAGGGTCGGTGCAGGCAGAATGCTAACCTGTACGTTATCCAGGACGTTGGGGATAGACGGCAACTTACACAAGCTTGTGCACATCCAGGGGTACTTTCTGGATCCCCGCCTCCCTGCCTCTGTGCCCACGCATTGGCTGTGATTACCAGCATGAAGTGGGCTTGCCCCAAGCGGCTGCGGTTTCTCTCGATTGTTAAGGGAGGAGGCACCAGCCTGGTGCTTTCAGGGGAGGGAGAGGACTTCAGTATGCAGAAGGAAGAGAGCACCGTGGCATCTCCCTGCACACGCTN
|
pathogenic
| 316,402 |
Determine if the mutation at chromosome 20, position 63488427 in gene EEF1A2 (eukaryotic translation elongation factor 1 alpha 2) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
benign
|
ATCCCAGGTGGGCCCTAAGTGCAGTCACTCGCATCCTCATGAGAAGGAGATTTGACACAGAGGAGGAGAGAGCAGTGTGGCGACAGAGGCAGAGACTGGAGTGACGCAGCCACAAGCCAAGGGGTGTCGGCAGCCACGGCAAGGGGTGAAGCAGGGAACCGACTCTCCTGGGGCCTCCAGAGGAGCAGAGCCCCATCGACACCTTGATTTCGGCAGGGAGGCTGGTTTTGGCCTGACCCCAGGAGGCCTCGCCATTTGCCGTCATTGGTCGCAGCATCCCTAAGAGACTAAGGCGCTATGAGGCCCTGCGGTCAGCCTGCCTGCTCTGCGGAACCCTCCGAGTCAGGTACCCGGCTGCAGGCTGGGAGCTGGGGGCTGGGCGACAGAGAGGCCTGCCTCAGTGCTGTGTACAGGGTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCAGACCCTCCTCTGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCAACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCCTCAAGGAAGCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCCTCAGGGAACCTGCTCACCCTCCACCCCGACCTTCACCTGCTGCAGCATGACTGGCTGTGGGCCGGGGCCGCTTTCCCAGAGCAGGGAGGGGTGGAAAGGAGCTGTCCTCCCCTCTCCCCACCCCTCCACTCTTCCCAGCCAAGGTCGGGGCAGGTTCTAGCCCAGAGAGACTAGGGAAGACCCAAAGCCCCCAGCCCACTGACTGAAGTCACCAGCCTCCCGGGTTCGGGGGCTGGAGTTCCTACAACCACGTACAGAGGGCCTGGACCTGGGAGCAGGATGGATAGGTACAGGCTGCAGCCACAGGTGACCGGCTTAGCAGGAGAGTGAGACCAGGTGTGCGGGGCCAGGGGAAGAATGAGTGTGTGTGTGACAGTCACTCGCGGTGGAGGAGCCCTCAGCTCTCATGCGGCCCCCAGAGATCCCAAAACCCGCAGCCTGGTTCTGTGGATCTGAAGGCACCATTCTCTGCCCTGAGTAGCCATGGAGAAGCCCCTCAAAGCCACCCAGGCCACCTGGCCTTCGGATGGGGTCTTGCTGCTGGGCCACGGCCTGGGGGACACCAGGCCCTCCTCAGCGAGCGCTCAGCGCTCACCCTGTGCAGCGCAGGGGACCACTCTTGCAGGCCCACCGCCCACCCTGGGGTCCCCGGGCAGGGAGTGAAGGATGCTGGGCCGGCCACTTGGGCAGGGAGGGGGTCCGGGGGGCGCGGGGCCCACCCCCCAGCAGCAGGCGCACACGGCTCTGGGGTCGCTCAGTTTATTGGTAAAACGGGCACTGAGCGTGGCGAGCGCTGGGCGCGGAAGCCTGGGGCGGGGGCGCCTTTCCTCTTGAAGAACTTCCACTGGACCTTGATGGCGAGCATCCAGTCGCTGACCGAGGGCCTCTGGCAAGCGGAGGTGCAGACATGCGCCTGGCGGGGGTGCGGGGCGCCGGACCGGCGCGCGGGGCGGGGGCGGGGCGGGGGCCCGGGCCCGGGGTTCGGAGCGCGGCACCGCCGGGGAGGGTCGCGCCGCGGGCGCCCGCGCTTCACTTGCCCGCCTTCTGCGCCTTCTGCGCCGACTTGGTGACCTTGCCGGCGCCGCCGCTCTTCTTCTCCACGTTCTTGATGACGCCTACGGCCACCGTCTGCCTCATGTCGCGCACGGCGAAGCGGCCTGGGGGGCGGGGGGCGGCGTGTGGGCGGGGCCGGAGGACTTGACCCCCCCCAACCCCAGGGCTCTGGCCGGGCGGGGGCGCAACCGCGTCGGGAATGTCCTCGGAACACGCTTAGCGCAGAGCGCGCCCCTGTGAAGACGGCCGGCCTCGCGGGAGTCCTGCCTGGGCGGCTGCTCCACGGTCTGCGGGGCGGCCACGGGGCGGGGGCAGCCCTAACGCTGCCACTGGGCGACCGCGGGCCTTCCTCACTCGCGGGGCCTCCCTCACTTTCGGGGCCTCGTCTGCACACAGGGCCCACCCCAGCTCGTCTGGGCAGGGTCACCTGCACTCAGTGACACGGAGGCCGTGGCTCTCCTGCCATGCTCTGGGCCAAGCTCCGCAGGAAAGGGGGCCCACTGCTGTCCCCAGCGCCCCATCCCCGCAGTCCTCTGCCCTCAGCCTGGATCAGCCACAGCCTGGGGGCTGCACCTCCCCGGACCACCCCGGCTCACCGAGAGGCGGGTACTGGGAGAAGCTCTCCACACACATGGGCTTTCCCGGCACCATCTCCACGATGGCCGCGTCTCCAGACTTCAGGGACTTGGGGTTGTCCTCCAGCTTCTTGCCAGAGCGCCGGTCAATCTTCTCCTTCAGCTCCGCAAACTTGCAGGCGATGTGGGCTGTGTGGCAGTCGATGACCGGGGAGTAGCCGGCGCTAATCTGCCCCGGGTGGTTCAGGATGATGACCTGCGAGCGGAGCCACAGGCGGCCATCAGGCACATCGGCGGTGGGCACCGGGAGGGCGCCAGAGCGGGGCTGGGAGGCCCAGTCACCGGCGCCCCTGCACGGGCTCCTGGGCCCGGAGTGCTGACTGGAGGGGGCTCAGGCTCTGAGGACCCAGCCCCCAGACCTGAACCTCAACATCCTCATTAAGCAAAAGATAAACAACTGAGATTCATTGTTTCGAAGGGGCAGGGGCAGCACTTACACGGCCAACCCCAGCTGGAACTAAGGCGGGGGGGTGACAAAACTGGACCTCAATTCCTGTGTTTCAGTTGTATCTCAATAAAGCCACTTTTAAAAATCATATGAAGAGGCCAGGCACGGTGGCTCACACCTGTCATCCCAGTACTTTGGGAGGCTGACGCACGTGGATCACTTGAGGTCAGGAGTTCGAGACCGGCCTGGCCAACATGGTGAAACCCCGTATCTACTAATAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCTTACCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAATAAATAAATCATATGAAGAGGCCAGCAAAGAGGGGCAATGAAGACTGTAGAGAATAAAAGTATGACAGAGATGTCTCAGACAGTAAGTTAACAAAAGCGTTTTTCTAGGACGAATGTAGGACCTCAAAGGCTGGGCATCCCAGCAGTGCAGCGTGGAAGACAGACCCGCGATTGCACACAGGCTGGGAGCCACAGGGCCTGCACCCCTCCCAGAACTGATTGATCCCCTCGTTGAGTGCTCGGTGGCCCCCTCGGTGGTATGCGGGTCCCTTTTCTTTTTTTTTTTTTCTTTTGAGACGAAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGATAGCTGGGACTACAGGCACGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGACTTGATCTCTTGACCTCGTGATCTGCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAACCACTGCGCCCAGCCTGAGGGTCTGGTTTTCTCCCCACGCCAGGCCACCTGCCGACAGCAGCCTCACCCAGGACAGTCCTGCTGCTGTCCAGCAGGCGCCAGCCCCCTGGACCCAGCGCAGCCCC
|
ATCCCAGGTGGGCCCTAAGTGCAGTCACTCGCATCCTCATGAGAAGGAGATTTGACACAGAGGAGGAGAGAGCAGTGTGGCGACAGAGGCAGAGACTGGAGTGACGCAGCCACAAGCCAAGGGGTGTCGGCAGCCACGGCAAGGGGTGAAGCAGGGAACCGACTCTCCTGGGGCCTCCAGAGGAGCAGAGCCCCATCGACACCTTGATTTCGGCAGGGAGGCTGGTTTTGGCCTGACCCCAGGAGGCCTCGCCATTTGCCGTCATTGGTCGCAGCATCCCTAAGAGACTAAGGCGCTATGAGGCCCTGCGGTCAGCCTGCCTGCTCTGCGGAACCCTCCGAGTCAGGTACCCGGCTGCAGGCTGGGAGCTGGGGGCTGGGCGACAGAGAGGCCTGCCTCAGTGCTGTGTACAGGGTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCAGACCCTCCTCTGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCAACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCCTCAAGGAAGCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCCTCAGGGAACCTGCTCACCCTCCACCCCGACCTTCACCTGCTGCAGCATGACTGGCTGTGGGCCGGGGCCGCTTTCCCAGAGCAGGGAGGGGTGGAAAGGAGCTGTCCTCCCCTCTCCCCACCCCTCCACTCTTCCCAGCCAAGGTCGGGGCAGGTTCTAGCCCAGAGAGACTAGGGAAGACCCAAAGCCCCCAGCCCACTGACTGAAGTCACCAGCCTCCCGGGTTCGGGGGCTGGAGTTCCTACAACCACGTACAGAGGGCCTGGACCTGGGAGCAGGATGGATAGGTACAGGCTGCAGCCACAGGTGACCGGCTTAGCAGGAGAGTGAGACCAGGTGTGCGGGGCCAGGGGAAGAATGAGTGTGTGTGTGACAGTCACTCGCGGTGGAGGAGCCCTCAGCTCTCATGCGGCCCCCAGAGATCCCAAAACCCGCAGCCTGGTTCTGTGGATCTGAAGGCACCATTCTCTGCCCTGAGTAGCCATGGAGAAGCCCCTCAAAGCCACCCAGGCCACCTGGCCTTCGGATGGGGTCTTGCTGCTGGGCCACGGCCTGGGGGACACCAGGCCCTCCTCAGCGAGCGCTCAGCGCTCACCCTGTGCAGCGCAGGGGACCACTCTTGCAGGCCCACCGCCCACCCTGGGGTCCCCGGGCAGGGAGTGAAGGATGCTGGGCCGGCCACTTGGGCAGGGAGGGGGTCCGGGGGGCGCGGGGCCCACCCCCCAGCAGCAGGCGCACACGGCTCTGGGGTCGCTCAGTTTATTGGTAAAACGGGCACTGAGCGTGGCGAGCGCTGGGCGCGGAAGCCTGGGGCGGGGGCGCCTTTCCTCTTGAAGAACTTCCACTGGACCTTGATGGCGAGCATCCAGTCGCTGACCGAGGGCCTCTGGCAAGCGGAGGTGCAGACATGCGCCTGGCGGGGGTGCGGGGCGCCGGACCGGCGCGCGGGGCGGGGGCGGGGCGGGGGCCCGGGCCCGGGGTTCGGAGCGCGGCACCGCCGGGGAGGGTCGCGCCGCGGGCGCCCGCGCTTCACTTGCCCGCCTTCTGCGCCTTCTGCGCCGACTTGGTGACCTTGCCGGCGCCGCCGCTCTTCTTCTCCACGTTCTTGATGACGCCTACGGCCACCGTCTGCCTCATGTCGCGCACGGCGAAGCGGCCTGGGGGGCGGGGGGCGGGGGGCGGCGTGTGGGCGGGGCCGGAGGACTTGACCCCCCCCAACCCCAGGGCTCTGGCCGGGCGGGGGCGCAACCGCGTCGGGAATGTCCTCGGAACACGCTTAGCGCAGAGCGCGCCCCTGTGAAGACGGCCGGCCTCGCGGGAGTCCTGCCTGGGCGGCTGCTCCACGGTCTGCGGGGCGGCCACGGGGCGGGGGCAGCCCTAACGCTGCCACTGGGCGACCGCGGGCCTTCCTCACTCGCGGGGCCTCCCTCACTTTCGGGGCCTCGTCTGCACACAGGGCCCACCCCAGCTCGTCTGGGCAGGGTCACCTGCACTCAGTGACACGGAGGCCGTGGCTCTCCTGCCATGCTCTGGGCCAAGCTCCGCAGGAAAGGGGGCCCACTGCTGTCCCCAGCGCCCCATCCCCGCAGTCCTCTGCCCTCAGCCTGGATCAGCCACAGCCTGGGGGCTGCACCTCCCCGGACCACCCCGGCTCACCGAGAGGCGGGTACTGGGAGAAGCTCTCCACACACATGGGCTTTCCCGGCACCATCTCCACGATGGCCGCGTCTCCAGACTTCAGGGACTTGGGGTTGTCCTCCAGCTTCTTGCCAGAGCGCCGGTCAATCTTCTCCTTCAGCTCCGCAAACTTGCAGGCGATGTGGGCTGTGTGGCAGTCGATGACCGGGGAGTAGCCGGCGCTAATCTGCCCCGGGTGGTTCAGGATGATGACCTGCGAGCGGAGCCACAGGCGGCCATCAGGCACATCGGCGGTGGGCACCGGGAGGGCGCCAGAGCGGGGCTGGGAGGCCCAGTCACCGGCGCCCCTGCACGGGCTCCTGGGCCCGGAGTGCTGACTGGAGGGGGCTCAGGCTCTGAGGACCCAGCCCCCAGACCTGAACCTCAACATCCTCATTAAGCAAAAGATAAACAACTGAGATTCATTGTTTCGAAGGGGCAGGGGCAGCACTTACACGGCCAACCCCAGCTGGAACTAAGGCGGGGGGGTGACAAAACTGGACCTCAATTCCTGTGTTTCAGTTGTATCTCAATAAAGCCACTTTTAAAAATCATATGAAGAGGCCAGGCACGGTGGCTCACACCTGTCATCCCAGTACTTTGGGAGGCTGACGCACGTGGATCACTTGAGGTCAGGAGTTCGAGACCGGCCTGGCCAACATGGTGAAACCCCGTATCTACTAATAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCTTACCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAATAAATAAATCATATGAAGAGGCCAGCAAAGAGGGGCAATGAAGACTGTAGAGAATAAAAGTATGACAGAGATGTCTCAGACAGTAAGTTAACAAAAGCGTTTTTCTAGGACGAATGTAGGACCTCAAAGGCTGGGCATCCCAGCAGTGCAGCGTGGAAGACAGACCCGCGATTGCACACAGGCTGGGAGCCACAGGGCCTGCACCCCTCCCAGAACTGATTGATCCCCTCGTTGAGTGCTCGGTGGCCCCCTCGGTGGTATGCGGGTCCCTTTTCTTTTTTTTTTTTTCTTTTGAGACGAAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGATAGCTGGGACTACAGGCACGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGACTTGATCTCTTGACCTCGTGATCTGCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAACCACTGCGCCCAGCCTGAGGGTCTGGTTTTCTCCCCACGCCAGGCCACCTGCCGACAGCAGCCTCACCCAGGACAGTCCTGCTGCTGTCCAGCAGGCGCCAGCCCCCTGGACCCAGCG
|
benign
| 316,425 |
Clinical impact (benign or pathogenic) of the variant at chromosome 20, location 63488434, gene EEF1A2 (eukaryotic translation elongation factor 1 alpha 2): what disease(s) if pathogenic?
|
benign
|
GTGGGCCCTAAGTGCAGTCACTCGCATCCTCATGAGAAGGAGATTTGACACAGAGGAGGAGAGAGCAGTGTGGCGACAGAGGCAGAGACTGGAGTGACGCAGCCACAAGCCAAGGGGTGTCGGCAGCCACGGCAAGGGGTGAAGCAGGGAACCGACTCTCCTGGGGCCTCCAGAGGAGCAGAGCCCCATCGACACCTTGATTTCGGCAGGGAGGCTGGTTTTGGCCTGACCCCAGGAGGCCTCGCCATTTGCCGTCATTGGTCGCAGCATCCCTAAGAGACTAAGGCGCTATGAGGCCCTGCGGTCAGCCTGCCTGCTCTGCGGAACCCTCCGAGTCAGGTACCCGGCTGCAGGCTGGGAGCTGGGGGCTGGGCGACAGAGAGGCCTGCCTCAGTGCTGTGTACAGGGTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCAGACCCTCCTCTGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCAACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCCTCAAGGAAGCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCCTCAGGGAACCTGCTCACCCTCCACCCCGACCTTCACCTGCTGCAGCATGACTGGCTGTGGGCCGGGGCCGCTTTCCCAGAGCAGGGAGGGGTGGAAAGGAGCTGTCCTCCCCTCTCCCCACCCCTCCACTCTTCCCAGCCAAGGTCGGGGCAGGTTCTAGCCCAGAGAGACTAGGGAAGACCCAAAGCCCCCAGCCCACTGACTGAAGTCACCAGCCTCCCGGGTTCGGGGGCTGGAGTTCCTACAACCACGTACAGAGGGCCTGGACCTGGGAGCAGGATGGATAGGTACAGGCTGCAGCCACAGGTGACCGGCTTAGCAGGAGAGTGAGACCAGGTGTGCGGGGCCAGGGGAAGAATGAGTGTGTGTGTGACAGTCACTCGCGGTGGAGGAGCCCTCAGCTCTCATGCGGCCCCCAGAGATCCCAAAACCCGCAGCCTGGTTCTGTGGATCTGAAGGCACCATTCTCTGCCCTGAGTAGCCATGGAGAAGCCCCTCAAAGCCACCCAGGCCACCTGGCCTTCGGATGGGGTCTTGCTGCTGGGCCACGGCCTGGGGGACACCAGGCCCTCCTCAGCGAGCGCTCAGCGCTCACCCTGTGCAGCGCAGGGGACCACTCTTGCAGGCCCACCGCCCACCCTGGGGTCCCCGGGCAGGGAGTGAAGGATGCTGGGCCGGCCACTTGGGCAGGGAGGGGGTCCGGGGGGCGCGGGGCCCACCCCCCAGCAGCAGGCGCACACGGCTCTGGGGTCGCTCAGTTTATTGGTAAAACGGGCACTGAGCGTGGCGAGCGCTGGGCGCGGAAGCCTGGGGCGGGGGCGCCTTTCCTCTTGAAGAACTTCCACTGGACCTTGATGGCGAGCATCCAGTCGCTGACCGAGGGCCTCTGGCAAGCGGAGGTGCAGACATGCGCCTGGCGGGGGTGCGGGGCGCCGGACCGGCGCGCGGGGCGGGGGCGGGGCGGGGGCCCGGGCCCGGGGTTCGGAGCGCGGCACCGCCGGGGAGGGTCGCGCCGCGGGCGCCCGCGCTTCACTTGCCCGCCTTCTGCGCCTTCTGCGCCGACTTGGTGACCTTGCCGGCGCCGCCGCTCTTCTTCTCCACGTTCTTGATGACGCCTACGGCCACCGTCTGCCTCATGTCGCGCACGGCGAAGCGGCCTGGGGGGCGGGGGGCGGCGTGTGGGCGGGGCCGGAGGACTTGACCCCCCCCAACCCCAGGGCTCTGGCCGGGCGGGGGCGCAACCGCGTCGGGAATGTCCTCGGAACACGCTTAGCGCAGAGCGCGCCCCTGTGAAGACGGCCGGCCTCGCGGGAGTCCTGCCTGGGCGGCTGCTCCACGGTCTGCGGGGCGGCCACGGGGCGGGGGCAGCCCTAACGCTGCCACTGGGCGACCGCGGGCCTTCCTCACTCGCGGGGCCTCCCTCACTTTCGGGGCCTCGTCTGCACACAGGGCCCACCCCAGCTCGTCTGGGCAGGGTCACCTGCACTCAGTGACACGGAGGCCGTGGCTCTCCTGCCATGCTCTGGGCCAAGCTCCGCAGGAAAGGGGGCCCACTGCTGTCCCCAGCGCCCCATCCCCGCAGTCCTCTGCCCTCAGCCTGGATCAGCCACAGCCTGGGGGCTGCACCTCCCCGGACCACCCCGGCTCACCGAGAGGCGGGTACTGGGAGAAGCTCTCCACACACATGGGCTTTCCCGGCACCATCTCCACGATGGCCGCGTCTCCAGACTTCAGGGACTTGGGGTTGTCCTCCAGCTTCTTGCCAGAGCGCCGGTCAATCTTCTCCTTCAGCTCCGCAAACTTGCAGGCGATGTGGGCTGTGTGGCAGTCGATGACCGGGGAGTAGCCGGCGCTAATCTGCCCCGGGTGGTTCAGGATGATGACCTGCGAGCGGAGCCACAGGCGGCCATCAGGCACATCGGCGGTGGGCACCGGGAGGGCGCCAGAGCGGGGCTGGGAGGCCCAGTCACCGGCGCCCCTGCACGGGCTCCTGGGCCCGGAGTGCTGACTGGAGGGGGCTCAGGCTCTGAGGACCCAGCCCCCAGACCTGAACCTCAACATCCTCATTAAGCAAAAGATAAACAACTGAGATTCATTGTTTCGAAGGGGCAGGGGCAGCACTTACACGGCCAACCCCAGCTGGAACTAAGGCGGGGGGGTGACAAAACTGGACCTCAATTCCTGTGTTTCAGTTGTATCTCAATAAAGCCACTTTTAAAAATCATATGAAGAGGCCAGGCACGGTGGCTCACACCTGTCATCCCAGTACTTTGGGAGGCTGACGCACGTGGATCACTTGAGGTCAGGAGTTCGAGACCGGCCTGGCCAACATGGTGAAACCCCGTATCTACTAATAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCTTACCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAATAAATAAATCATATGAAGAGGCCAGCAAAGAGGGGCAATGAAGACTGTAGAGAATAAAAGTATGACAGAGATGTCTCAGACAGTAAGTTAACAAAAGCGTTTTTCTAGGACGAATGTAGGACCTCAAAGGCTGGGCATCCCAGCAGTGCAGCGTGGAAGACAGACCCGCGATTGCACACAGGCTGGGAGCCACAGGGCCTGCACCCCTCCCAGAACTGATTGATCCCCTCGTTGAGTGCTCGGTGGCCCCCTCGGTGGTATGCGGGTCCCTTTTCTTTTTTTTTTTTTCTTTTGAGACGAAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGATAGCTGGGACTACAGGCACGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGACTTGATCTCTTGACCTCGTGATCTGCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAACCACTGCGCCCAGCCTGAGGGTCTGGTTTTCTCCCCACGCCAGGCCACCTGCCGACAGCAGCCTCACCCAGGACAGTCCTGCTGCTGTCCAGCAGGCGCCAGCCCCCTGGACCCAGCGCAGCCCCCCACCTG
|
GTGGGCCCTAAGTGCAGTCACTCGCATCCTCATGAGAAGGAGATTTGACACAGAGGAGGAGAGAGCAGTGTGGCGACAGAGGCAGAGACTGGAGTGACGCAGCCACAAGCCAAGGGGTGTCGGCAGCCACGGCAAGGGGTGAAGCAGGGAACCGACTCTCCTGGGGCCTCCAGAGGAGCAGAGCCCCATCGACACCTTGATTTCGGCAGGGAGGCTGGTTTTGGCCTGACCCCAGGAGGCCTCGCCATTTGCCGTCATTGGTCGCAGCATCCCTAAGAGACTAAGGCGCTATGAGGCCCTGCGGTCAGCCTGCCTGCTCTGCGGAACCCTCCGAGTCAGGTACCCGGCTGCAGGCTGGGAGCTGGGGGCTGGGCGACAGAGAGGCCTGCCTCAGTGCTGTGTACAGGGTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCAGACCCTCCTCTGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCAACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCCTCAAGGAAGCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCCTCAGGGAACCTGCTCACCCTCCACCCCGACCTTCACCTGCTGCAGCATGACTGGCTGTGGGCCGGGGCCGCTTTCCCAGAGCAGGGAGGGGTGGAAAGGAGCTGTCCTCCCCTCTCCCCACCCCTCCACTCTTCCCAGCCAAGGTCGGGGCAGGTTCTAGCCCAGAGAGACTAGGGAAGACCCAAAGCCCCCAGCCCACTGACTGAAGTCACCAGCCTCCCGGGTTCGGGGGCTGGAGTTCCTACAACCACGTACAGAGGGCCTGGACCTGGGAGCAGGATGGATAGGTACAGGCTGCAGCCACAGGTGACCGGCTTAGCAGGAGAGTGAGACCAGGTGTGCGGGGCCAGGGGAAGAATGAGTGTGTGTGTGACAGTCACTCGCGGTGGAGGAGCCCTCAGCTCTCATGCGGCCCCCAGAGATCCCAAAACCCGCAGCCTGGTTCTGTGGATCTGAAGGCACCATTCTCTGCCCTGAGTAGCCATGGAGAAGCCCCTCAAAGCCACCCAGGCCACCTGGCCTTCGGATGGGGTCTTGCTGCTGGGCCACGGCCTGGGGGACACCAGGCCCTCCTCAGCGAGCGCTCAGCGCTCACCCTGTGCAGCGCAGGGGACCACTCTTGCAGGCCCACCGCCCACCCTGGGGTCCCCGGGCAGGGAGTGAAGGATGCTGGGCCGGCCACTTGGGCAGGGAGGGGGTCCGGGGGGCGCGGGGCCCACCCCCCAGCAGCAGGCGCACACGGCTCTGGGGTCGCTCAGTTTATTGGTAAAACGGGCACTGAGCGTGGCGAGCGCTGGGCGCGGAAGCCTGGGGCGGGGGCGCCTTTCCTCTTGAAGAACTTCCACTGGACCTTGATGGCGAGCATCCAGTCGCTGACCGAGGGCCTCTGGCAAGCGGAGGTGCAGACATGCGCCTGGCGGGGGTGCGGGGCGCCGGACCGGCGCGCGGGGCGGGGGCGGGGCGGGGGCCCGGGCCCGGGGTTCGGAGCGCGGCACCGCCGGGGAGGGTCGCGCCGCGGGCGCCCGCGCTTCACTTGCCCGCCTTCTGCGCCTTCTGCGCCGACTTGGTGACCTTGCCGGCGCCGCCGCTCTTCTTCTCCACGTTCTTGATGACGCCTACGGCCACCGTCTGCCTCATGTCGCGCACGGCGAAGCGGCCTGGGGGGCGGGGGCGGCGTGTGGGCGGGGCCGGAGGACTTGACCCCCCCCAACCCCAGGGCTCTGGCCGGGCGGGGGCGCAACCGCGTCGGGAATGTCCTCGGAACACGCTTAGCGCAGAGCGCGCCCCTGTGAAGACGGCCGGCCTCGCGGGAGTCCTGCCTGGGCGGCTGCTCCACGGTCTGCGGGGCGGCCACGGGGCGGGGGCAGCCCTAACGCTGCCACTGGGCGACCGCGGGCCTTCCTCACTCGCGGGGCCTCCCTCACTTTCGGGGCCTCGTCTGCACACAGGGCCCACCCCAGCTCGTCTGGGCAGGGTCACCTGCACTCAGTGACACGGAGGCCGTGGCTCTCCTGCCATGCTCTGGGCCAAGCTCCGCAGGAAAGGGGGCCCACTGCTGTCCCCAGCGCCCCATCCCCGCAGTCCTCTGCCCTCAGCCTGGATCAGCCACAGCCTGGGGGCTGCACCTCCCCGGACCACCCCGGCTCACCGAGAGGCGGGTACTGGGAGAAGCTCTCCACACACATGGGCTTTCCCGGCACCATCTCCACGATGGCCGCGTCTCCAGACTTCAGGGACTTGGGGTTGTCCTCCAGCTTCTTGCCAGAGCGCCGGTCAATCTTCTCCTTCAGCTCCGCAAACTTGCAGGCGATGTGGGCTGTGTGGCAGTCGATGACCGGGGAGTAGCCGGCGCTAATCTGCCCCGGGTGGTTCAGGATGATGACCTGCGAGCGGAGCCACAGGCGGCCATCAGGCACATCGGCGGTGGGCACCGGGAGGGCGCCAGAGCGGGGCTGGGAGGCCCAGTCACCGGCGCCCCTGCACGGGCTCCTGGGCCCGGAGTGCTGACTGGAGGGGGCTCAGGCTCTGAGGACCCAGCCCCCAGACCTGAACCTCAACATCCTCATTAAGCAAAAGATAAACAACTGAGATTCATTGTTTCGAAGGGGCAGGGGCAGCACTTACACGGCCAACCCCAGCTGGAACTAAGGCGGGGGGGTGACAAAACTGGACCTCAATTCCTGTGTTTCAGTTGTATCTCAATAAAGCCACTTTTAAAAATCATATGAAGAGGCCAGGCACGGTGGCTCACACCTGTCATCCCAGTACTTTGGGAGGCTGACGCACGTGGATCACTTGAGGTCAGGAGTTCGAGACCGGCCTGGCCAACATGGTGAAACCCCGTATCTACTAATAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCTTACCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAATAAATAAATCATATGAAGAGGCCAGCAAAGAGGGGCAATGAAGACTGTAGAGAATAAAAGTATGACAGAGATGTCTCAGACAGTAAGTTAACAAAAGCGTTTTTCTAGGACGAATGTAGGACCTCAAAGGCTGGGCATCCCAGCAGTGCAGCGTGGAAGACAGACCCGCGATTGCACACAGGCTGGGAGCCACAGGGCCTGCACCCCTCCCAGAACTGATTGATCCCCTCGTTGAGTGCTCGGTGGCCCCCTCGGTGGTATGCGGGTCCCTTTTCTTTTTTTTTTTTTCTTTTGAGACGAAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGATAGCTGGGACTACAGGCACGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGATGGACTTGATCTCTTGACCTCGTGATCTGCCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAACCACTGCGCCCAGCCTGAGGGTCTGGTTTTCTCCCCACGCCAGGCCACCTGCCGACAGCAGCCTCACCCAGGACAGTCCTGCTGCTGTCCAGCAGGCGCCAGCCCCCTGGACCCAGCGCAGCCCCCCACCTGN
|
benign
| 316,426 |
Does the variant on chromosome 20 at location 63662607 affecting gene RTEL1 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3']
|
AGATTAACAGCATCTTAGGGCAAAGCAATTGTTCAGGGTACAGGTCAAAATGGAGTGTGTTATGTCTTCCCTTTCTACATAGACACAGTAACAGTCTGATCTCTCTTTTCCCTACAGTCCTTGAGGGTGACAGACTTAGGAGTGCCTTGGGGGCCTCTCTGAGGAGCAGCTGATATTCACGGGTCAGGAGGAAGCATTTCCATTAGAGGGGCAGCCGGTGGCCAGCCTCACTTGGAAGGTCTTTGAACCTCGGGGGTGCAGGGAGGTGGCAGTGGTGCAGGTTGCCTTCTCCTGGGTTCCTTGAGGTGCCCTCTTGTACCCGGCTCACACCCTTCCCCTCCCCGAGTTTCCTGCTCAGGTTCCCGTCTGAGAGCTTGTATGTAGGACGTCAGATAGGACAGCATAAATGTTTGGATCCAGAAACGCAGAACAGTTTCCTATTTTGAGACTTGACACCTAATTAGTCATCTTACTATTTAAGCTGAAAAATAGTGTCGTGTTTTGGGTAACGTTCTGCAAATCGTTTGCTAATGGCGGCTGAGTTGCTTCACGCCCTTTAGGGCAAGAGTGGGACTTGCCTGTGGACTTCTCCGCGGTCCCACAGGGCTCTCGCCACCTGGCAGTGGCCTCTGCATCTGCAAAGAGCTGCCCGCTGGCTGCCGAAGCTTGTCTCAGGGCAGCTTGTGTGGCCTCGCCTCTTCCTGGCTTCCCCGTAACCCTTGCTCCGAACTCCGTTCAGAAGGTGAATGGCATCCTGGAGAGCCCTACGGGTACAGGGAAGACGCTGTGCCTGCTGTGCACCACGCTGGCCTGGCGAGAACACCTCCGAGACGGCATCTCTGCCCGCAAGATTGCCGAGAGGGCGCAAGGAGAGCTTTTCCCGGATCGGGCCTTGTCATCCTGGGGCAACGCTGCTGCTGCTGCTGGAGACCCCATAGGTGACCCTAGTTCCCAGGCCTCTCCTGGCCTCCTGTGGGGATGGTTGGCAAGGGATGGCGCTGAGGGTGGGGTGGGCCCATGGGGACTCCTGCCGTCTCTCAAGCAGAACTCAAGGAGAATTTTTTAGCTGCTGTATAATTTCTCGCCATCGTGGGTGTAAACCTAGGGTTGGGCTTTTTTGCTGAATTAGGGCACGGCAGATGCCCACTTCACCCATTTTTGATAAACCAGTATCTGGGGTGTCAGATTCTTGGCTGTCTGCAGGGCCGAGTTAGCCGAATGCCACCTGCCTTTGATACGTGAGAACGTTGTCTGAGAACCGTGACTTCTGTGCTTGCTTGTGTCTGGTCAGCTTGCTACACGGACATCCCAAAGATTATTTACGCCTCCAGGACCCACTCGCAACTCACACAGGTCATCAACGAGCTTCGGAACACCTCCTACCGGTGGGTCAGACGAGTTTACACCTGTCTCGGGGTCCTCAAGAGAACCAGCTTGGCATGGTGCTGAGTCCACAGCCCCATGCTGTGCTGTGGTGGAGGGTGGTGGTCTTTCTAGACGCTCCCCCGAAGTGTGCAGAGCGCTGGTGCCCAGGGGTGGGGTGCGGCCTGGGCTGCCTCCAATGCCCATTACTTGTGAGGAAGCAGCTTTGCATCTGTGTGCTGACCTTGGGCGGGCGTCCTGAGCTCCTCGCAGGTGCTGTTGTAGCAGCTGTGCAGTAGGTCAGGGCTGGCCCCCAGTGCAGCTTTGCACATGAAGTAGGAGGAGGCCCTGCTGCTTGTCAGAGCCCAGCAGAGTCTTGGTGTTCTGTCGGGTTCCTGTGGCCGGACCAGTGGCAGGGTGCTGTGGAAGCTGTCGAATCTCCTCCCTCTGTCCAGTACCCCCGCTCGTCTTCTAGCTCCCTCCTACGCCCGGGCCACGTTTCAGTTATGCTCACTTCCTCTGACCGCCGAGGCTCCTGCGTGTCTCCATACAGCTCACGCTGCAGGGCCACGCTGTGGGTGTTGGAGACAGCTCCTCCTCGACCCACGGTGCTCTCTCCCACCAGGCCTAAGGTGTGTGTGCTGGGCTCCCGGGAGCAGCTGTGCATCCATCCTGAGGTGAAGAAACAAGAGAGTAACCATCTACAGGTAGGCTCCTGGGCTCCCGCTCCGGCTCAGTGTCCGACAGGCGAGTGCTGCTGGGTGTCCAGAGCCCCAGGCTGCGCTCCCGCTGGGCTAGGGTTTGAAGTTCACTGGGGGACTGCAGGGGAGGACCTGGTGGGGGTGGGGACTGGCTTCGGTCCTTTCTTGGCCGTGCTTCAGCTGCGCACTCTGCCCTTCCTCCCACAGATCCACTTGTGCCGTAAGAAGGTGGCAAGTCGCTCCTGTCATTTCTACAACAACGTAGAAGGTACAAGCAGCTGGGTGGGACCAGGGTCGGGTTGGAGTGTGTGCAGCCTCTCAGGGTGGAGCTCAGTGGTGTCACAGCCTGGTTGTGCTTGCCCGGTGGGGCGGCCAGTGCGGCCATGTACCTGGGCCCTGTCTTCTGACTCGGGGCCACCCATGTTAGACTTCTGTGTGGAAGAGCTCACACAGTGGTCTGAGACAGCCAGCCGGCAAGACTGCCTCTGGCTGGTGCCTGGGGCCTTGGATTTTGGGAAGGCTCCCTCCATTTCCTGATGAGAGGGTCTCCCTGCACCTAACCTGCTGGTGCAAACAGTAGGGGTTTTGCTGAACACCGGCTTTCTCTTCGGGGACTTTGTTGCTTGCCCAGCAGCAGGTGCTCCAGTGACCGGCCCTCATACCATCTTGGGAGGGTGTCCTGGAAGCCGTGTCTGGCCTCCCGCGACCCTGCCCCGTGTGTCTTTTTCCTGTGCTGACCTTGCTGCGGAAAATTATGGCCCTGAGTGTGACTCCAGGCTGAGTCCTGTGGGTCCAACACGGGATGCCTTGGGGCCTCTTCTGGAGACGGGATGTGAGTGACAGGAGCCGGCCGGGGCAGCTTGCCCTGTGACTGCACGTGGCCACAGCCTGTGAGGGCCGGGGGTGCTTCTCCACCCACGTGGCTGCCCCTCGGGTATGTCAAGGGCTTCTGGGGCTCATCACGGGGTCCTAGAGACAGTGGCAGGGTGCACCCCCGTTGGCTGCCCTTACAGTTTCTGTGACCTGAGGGTGGCATCTGTGCAGTCGGCGCGGTCTGTGCTTCTGTGGGATCAGGGTTCCCTCTGTTTCCTGCCTCAGTTGGGGCTCAAGCCTCAGGTGAGGTGGCCCCGGAGCACTCAGAAGGCATCGGCGGTCCTGTGGGCTGCTTTCTGCACTCACGTTTGCTGAGTGCTCAGTGTGCCAGGACTGAGGACCCTGAAGCTGCTCTTGTATTTAGGGCGGCGCTCCCCTGGCAGAGACTGAGCCAGGTGGTCCCGCATGACCCACTACCAGGCGTTTCTGGGCCCTGGCCCTTGGAGGGACAGGGTGGGCGGAACATGGGCCTGCAGGGAGGCTCCCGCTTACTGGAGGCATGTGCTGTGTTGCTGGAGACATCCTCTGTGTTGCTTCTTGTTCGCTGTGGTTTTTGGTCTGGTGGCACCAAGGACCCTCAGTCATCTTGATGTGTGGTTGTCCAGGCCTTTTTGTTGGTCCTAAGAAGGGGCTCTGCCTTTGTGCCCCCAGGTTCCCTGACAGGAGCTGCCGGCTCGTCCCGGTGATGCCTGCAGGACGTGACTCTGGGACGGGGGGTTGGGCAGATGTGCTGATGGAAATTCTCAAGCAGGCGTCATTTCCGAGGTCCTCACCTGGATTTCCAGGACAGGAGTGCCTGCTGGGTGTCCCCAGTCCCATGCAGCGGGGGTCCTTGGGATAGCATGGAACGCTGAGCATGGGCCTGGCCGGCCGTGGTCCTGGACAAGGGCAGTGCCCCGGTGGCTGCTGGGCCTGGGACCTGGTGGGGACGCTGGGCCTGGTACCTGGTGGGGATGCTGGGCCTGGGACCTGGTGGGGAGGCCTCTGACTGCCTCCTGGTGCTGCTTCCGTCTGTGTTAGGCCTCTGGGTATTGGGGCCCCCATCTGTCTCCTCCTCCAGGCCTGTGGACTCAGACCAGGAAGACACAGGCCAGCCCCTGCCTGTCCCCCTTGGCTTGGGCTCTCACTGCCCGACCTGGCGGGAGGTTGCCTAGCCGTGA
|
AGATTAACAGCATCTTAGGGCAAAGCAATTGTTCAGGGTACAGGTCAAAATGGAGTGTGTTATGTCTTCCCTTTCTACATAGACACAGTAACAGTCTGATCTCTCTTTTCCCTACAGTCCTTGAGGGTGACAGACTTAGGAGTGCCTTGGGGGCCTCTCTGAGGAGCAGCTGATATTCACGGGTCAGGAGGAAGCATTTCCATTAGAGGGGCAGCCGGTGGCCAGCCTCACTTGGAAGGTCTTTGAACCTCGGGGGTGCAGGGAGGTGGCAGTGGTGCAGGTTGCCTTCTCCTGGGTTCCTTGAGGTGCCCTCTTGTACCCGGCTCACACCCTTCCCCTCCCCGAGTTTCCTGCTCAGGTTCCCGTCTGAGAGCTTGTATGTAGGACGTCAGATAGGACAGCATAAATGTTTGGATCCAGAAACGCAGAACAGTTTCCTATTTTGAGACTTGACACCTAATTAGTCATCTTACTATTTAAGCTGAAAAATAGTGTCGTGTTTTGGGTAACGTTCTGCAAATCGTTTGCTAATGGCGGCTGAGTTGCTTCACGCCCTTTAGGGCAAGAGTGGGACTTGCCTGTGGACTTCTCCGCGGTCCCACAGGGCTCTCGCCACCTGGCAGTGGCCTCTGCATCTGCAAAGAGCTGCCCGCTGGCTGCCGAAGCTTGTCTCAGGGCAGCTTGTGTGGCCTCGCCTCTTCCTGGCTTCCCCGTAACCCTTGCTCCGAACTCCGTTCAGAAGGTGAATGGCATCCTGGAGAGCCCTACGGGTACAGGGAAGACGCTGTGCCTGCTGTGCACCACGCTGGCCTGGCGAGAACACCTCCGAGACGGCATCTCTGCCCGCAAGATTGCCGAGAGGGCGCAAGGAGAGCTTTTCCCGGATCGGGCCTTGTCATCCTGGGGCAACGCTGCTGCTGCTGCTGGAGACCCCATAGGTGACCCTAGTTCCCAGGCCTCTCCTGGCCTCCTGTGGGGATGGTTGGCAAGGGATGGCGCTGAGGGTGGGGTGGGCCCATGGGGACTCCTGCCGTCTCTCAAGCAGAACTCAAGGAGAATTTTTTAGCTGCTGTATAATTTCTCGCCATCGTGGGTGTAAACCTAGGGTTGGGCTTTTTTGCTGAATTAGGGCACGGCAGATGCCCACTTCACCCATTTTTGATAAACCAGTATCTGGGGTGTCAGATTCTTGGCTGTCTGCAGGGCCGAGTTAGCCGAATGCCACCTGCCTTTGATACGTGAGAACGTTGTCTGAGAACCGTGACTTCTGTGCTTGCTTGTGTCTGGTCAGCTTGCTACACGGACATCCCAAAGATTATTTACGCCTCCAGGACCCACTCGCAACTCACACAGGTCATCAACGAGCTTCGGAACACCTCCTACCGGTGGGTCAGACGAGTTTACACCTGTCTCGGGGTCCTCAAGAGAACCAGCTTGGCATGGTGCTGAGTCCACAGCCCCATGCTGTGCTGTGGTGGAGGGTGGTGGTCTTTCTAGACGCTCCCCCGAAGTGTGCAGAGCGCTGGTGCCCAGGGGTGGGGTGCGGCCTGGGCTGCCTCCAATGCCCATTACTTGTGAGGAAGCAGCTTTGCATCTGTGTGCTGACCTTGGGCGGGCGTCCTGAGCTCCTCGCAGGTGCTGTTGTAGCAGCTGTGCAGTAGGTCAGGGCTGGCCCCCAGTGCAGCTTTGCACATGAAGTAGGAGGAGGCCCTGCTGCTTGTCAGAGCCCAGCAGAGTCTTGGTGTTCTGTCGGGTTCCTGTGGCCGGACCAGTGGCAGGGTGCTGTGGAAGCTGTCGAATCTCCTCCCTCTGTCCAGTACCCCCGCTCGTCTTCTAGCTCCCTCCTACGCCCGGGCCACGTTTCAGTTATGCTCACTTCCTCTGACCGCCGAGGCTCCTGCGTGTCTCCATACAGCTCACGCTGCAGGGCCACGCTGTGGGTGTTGGAGACAGCTCCTCCTCGACCCACGGTGCTCTCTCCCACCAGGCCTAAGGTGTGTGTGCTGGGCTCCCGGGAGCAGCTGTGCATCCATCCTGAGGTGAAGAAACGAGAGTAACCATCTACAGGTAGGCTCCTGGGCTCCCGCTCCGGCTCAGTGTCCGACAGGCGAGTGCTGCTGGGTGTCCAGAGCCCCAGGCTGCGCTCCCGCTGGGCTAGGGTTTGAAGTTCACTGGGGGACTGCAGGGGAGGACCTGGTGGGGGTGGGGACTGGCTTCGGTCCTTTCTTGGCCGTGCTTCAGCTGCGCACTCTGCCCTTCCTCCCACAGATCCACTTGTGCCGTAAGAAGGTGGCAAGTCGCTCCTGTCATTTCTACAACAACGTAGAAGGTACAAGCAGCTGGGTGGGACCAGGGTCGGGTTGGAGTGTGTGCAGCCTCTCAGGGTGGAGCTCAGTGGTGTCACAGCCTGGTTGTGCTTGCCCGGTGGGGCGGCCAGTGCGGCCATGTACCTGGGCCCTGTCTTCTGACTCGGGGCCACCCATGTTAGACTTCTGTGTGGAAGAGCTCACACAGTGGTCTGAGACAGCCAGCCGGCAAGACTGCCTCTGGCTGGTGCCTGGGGCCTTGGATTTTGGGAAGGCTCCCTCCATTTCCTGATGAGAGGGTCTCCCTGCACCTAACCTGCTGGTGCAAACAGTAGGGGTTTTGCTGAACACCGGCTTTCTCTTCGGGGACTTTGTTGCTTGCCCAGCAGCAGGTGCTCCAGTGACCGGCCCTCATACCATCTTGGGAGGGTGTCCTGGAAGCCGTGTCTGGCCTCCCGCGACCCTGCCCCGTGTGTCTTTTTCCTGTGCTGACCTTGCTGCGGAAAATTATGGCCCTGAGTGTGACTCCAGGCTGAGTCCTGTGGGTCCAACACGGGATGCCTTGGGGCCTCTTCTGGAGACGGGATGTGAGTGACAGGAGCCGGCCGGGGCAGCTTGCCCTGTGACTGCACGTGGCCACAGCCTGTGAGGGCCGGGGGTGCTTCTCCACCCACGTGGCTGCCCCTCGGGTATGTCAAGGGCTTCTGGGGCTCATCACGGGGTCCTAGAGACAGTGGCAGGGTGCACCCCCGTTGGCTGCCCTTACAGTTTCTGTGACCTGAGGGTGGCATCTGTGCAGTCGGCGCGGTCTGTGCTTCTGTGGGATCAGGGTTCCCTCTGTTTCCTGCCTCAGTTGGGGCTCAAGCCTCAGGTGAGGTGGCCCCGGAGCACTCAGAAGGCATCGGCGGTCCTGTGGGCTGCTTTCTGCACTCACGTTTGCTGAGTGCTCAGTGTGCCAGGACTGAGGACCCTGAAGCTGCTCTTGTATTTAGGGCGGCGCTCCCCTGGCAGAGACTGAGCCAGGTGGTCCCGCATGACCCACTACCAGGCGTTTCTGGGCCCTGGCCCTTGGAGGGACAGGGTGGGCGGAACATGGGCCTGCAGGGAGGCTCCCGCTTACTGGAGGCATGTGCTGTGTTGCTGGAGACATCCTCTGTGTTGCTTCTTGTTCGCTGTGGTTTTTGGTCTGGTGGCACCAAGGACCCTCAGTCATCTTGATGTGTGGTTGTCCAGGCCTTTTTGTTGGTCCTAAGAAGGGGCTCTGCCTTTGTGCCCCCAGGTTCCCTGACAGGAGCTGCCGGCTCGTCCCGGTGATGCCTGCAGGACGTGACTCTGGGACGGGGGGTTGGGCAGATGTGCTGATGGAAATTCTCAAGCAGGCGTCATTTCCGAGGTCCTCACCTGGATTTCCAGGACAGGAGTGCCTGCTGGGTGTCCCCAGTCCCATGCAGCGGGGGTCCTTGGGATAGCATGGAACGCTGAGCATGGGCCTGGCCGGCCGTGGTCCTGGACAAGGGCAGTGCCCCGGTGGCTGCTGGGCCTGGGACCTGGTGGGGACGCTGGGCCTGGTACCTGGTGGGGATGCTGGGCCTGGGACCTGGTGGGGAGGCCTCTGACTGCCTCCTGGTGCTGCTTCCGTCTGTGTTAGGCCTCTGGGTATTGGGGCCCCCATCTGTCTCCTCCTCCAGGCCTGTGGACTCAGACCAGGAAGACACAGGCCAGCCCCTGCCTGTCCCCCTTGGCTTGGGCTCTCACTGCCCGACCTGGCGGGAGGTTGCCTAGCCGTGANN
|
pathogenic
| 316,569 |
Mutation found at chromosome 20 position 63674070, gene RTEL1: benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3', 'RTEL1-related_disorder']
|
TACAGGCACACACCACCACCCCCTGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCTGGGAGTTGGGTTTGTAAATCTCCCTGAGTGGGGCTGGGGCAGGGAACTGCTGGGTCTGGGTCTTCCTGGCTCCTCTGGTCTGTGGCTTCCTGACTGCGGTGGCCGGGGGCTCCCAGGGCATCGTGGCCGTCTGTCTTGCTGAGCGTGGCACGTGCCTTTCCATGCTGTGGAGGAGCGTCTCCCGGTATGGCGAACTGCTGGTTAGGGTGGGGCGGTGTTGCCAGGTCATCCAGGTCTGGCCTCTGCTCTCGACATCGCCGGCGCTGTTGCTCATCTGCGCTTGTGATGTTCGATGCCTGCTGCACATGTCTTGGCTTCCCTCTTTCCCGGCCTCTGTGAGCTCCAGCGCTGCGTCCCTTCTCTTCCTCCTGTAGAGCCGCAGAGCACACAACATTGACCTGAAGGGGACAGTCGTGATCTTTGACGAAGCTCACAACGTGGTGAGTCTCCGCTGGCCTCCTAAACACCTCCTATTGCTTCTGGCCTTTTTGTCAAGAGCCACGCAAACCTTTCTGGAGGGGCTCTGGCCAAACTCCTGAAGCCCTAGGTGCCCAGGACTGGGGACTGAGCACACCAGGAGCTTCTGCCACCCCCTCCCGCCCTGATCCGATGCCTCTGCTGGGGCTGGAGACTGGCCAGCTGGGCCAGGGACCTGCCCGTCAGGCGCAGGGCCCCCACAGGCCGCTCACCAGACCCTTTCCCTCCAGCCAGCTCGGGGTCAGCCTGGGCCAGGGCTGTCTCCTCTGCCCTCGGCAGCAGCAGGCTTGTGGTCTTGCCTGCAGTGTCTCTGCCCTTCCGGCCACATGGCTTGAGACTGAGGCAGGAGAATCGCTTGAACCTTGGAGGCAGAGGCTGCAGTGAGCCAGGATCACACCACTGCATTCCAGCCTGGGTGACAAAGCGGGATTCTGTGTCAAAAAAAAAAATGTTGACTGGGCGCGCTAGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAAGAGATCAAGACCATCCTGGCCAACATAGTGAAACACCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGTGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTCGAACCCAGGAGGTAGAGGTTGCAATGAGCCAAGATCACACCACTGTACTCCAGCCTGGTGACAGAGCAAGACTCCGTCTCAAAAAAAATAAAATCAAAAAGAATAATTGGCAATTCCAGTGAAATAATTGTTTGTTTGTTTGTTGAGACAGGGTCTCCTTCTGTCGTCCAGGCTGGAGTTCAGTGGTATGATCTTGGCCCACTGCAACCTCCACCTCCTGGGCTCAAGCCATCCTCCCACCTCAGCCTCCCGAGTAGCCGGGACTACAGGTGCACACCACCACGCCCGGCTAATTTTTGTATTTTTTGTAGAGGCGGGGTTTCCCAGCGTTGCCCAGGCTGGTCTTGAACCCCTGAGCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCTGAAACAATCGTTTCTAAATATTGGTGTGGGCCACACAGTCATGTTTGGACCTACTTGTGGCCTTTTACAGACCCCAGGCCAAGGCTTTGGGAACTTGGCTGTCAGCCTCCTGTGCCTTCTGCACCCCCACCCCATTTCTGCTTTCTGGAACCCCCGATCCTGTCCTGTTCTGTGGTGATTCGGGTGTGCTTGGGCTCTAGGAGAAGATGTGTGAAGAATCGGCATCCTTTGACCTGACTCCCCATGACCTGGCTTCAGGACTGGACGTCATAGACCAGGTGCTGGAGGAGCAGACCAAGGCAGCGCAGCAGGGTGAGCCCCACCCGGAGTTCAGCGCGGACTCCCCCAGCCCAGGTGCGTTCATAGCCAGACTGCTTGGTCCTGAGGCCTGCGCTGCTGCAGGGTGAGCCCCACCCGGAGTTCAGCACGGACTCCCCCAGCCCAGGTGCGTTCATAGCCAGGCTGCTTGGTCCTGAGGCCCGTGCTACTGCAGTGGGCAGCCTGCCCTGTGGCTGTGTGTGGTCGGCCTGGGCACCATCTATTCAGGCTGGCACTGCAGGGCATCCGCTTCTCTCAGAGGCTTCTTGGGTGTGAATTCTTCAGGGTCCTGTAGCCTGTGGAAGGGCTGGTATTGTTCAGTAGTTCTGGTATTTTCCAAAGACCTATGTCTTCTCCCAGCCAGTATCAACTTGGCCTCTACTGTGTAAAACTGGAAAACTCTACTTTGTGAAGCTGAGTTGGGAGCATCGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCGGAACCTCGCCCCTGCCAAAAAATTAGCCAGGTGTGGTGGTGTGCTCCTGTGGTCCAAGCTTTTCCGGAGGCCGAAGTGGGAGGCGTGCTTGAGCCTGGGAGGCAGAGCTTCCGGTGCCCCAGATGACTCCACTGCACTCCAGCCTGGGCGGCAGAGTGAGGCCATCTCAAAAAAAAAAAAAAGGAAAACTAAATATATTCACTGTAAGGGCATTTTGCATCTTTAAATGACCCACAAATCTGGCATGCATCAGCTGCTCTGCCTGTAGGTTCCTTCCCAGTGTTTGTCCAGAGGTGTATTTCCACACAGCGCTAGTCACGGCATACGTGGAAAACGTGGAAACCCTTCATGGATGTTGTCAGTTGGTCTATATTTTCTTTCTTTTTTTTTTTTTTGAGATGGAGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATCACAGGCGTGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGATGGTTTCTCCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCACGTGATCCACCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCACGCCCGGCCTTTGTCCATATTTTCTACATGGCTTCTGTAAACAGCTGACTAGGAGTCTGTGTGAATATCTTCATAGGTTCTGCTGTGACACTACTTGCTCGTGAGCATCTCCAGGTGTAAACAGCATCAGCTTCCCCCATTTTCCTTTAAAATCGCACATGTGGACGGACACCACGGGGACCCTGGACCCTGGGGAGCCCCGTCCTCACCCTTCTCACCAGGATGGCTGCTTGGTAGAGAGTGAGTTTGCAAAGTTGGCATTTGTTTAGTACAGAAGTTATCAGGTGTTCTGGCTTTAGAATCCCTTTATATATATATATATATACATATATTTAAGTGACAGGGTCTCACTCTGTTGCCCAGGCTGGAATGTGGTGGTACAATCAAAGTTCCCTGTAGCCTCGGCCTCCTGGGCTCATGGGATCTTCCCGTCTCAGCGTCTTAAAGCGCCGGGACCACAGGTGTGCACCACTGCCACCGGCTCTCAAGATTGCCACGCAGGGAGTTGCAGTGGGGGAAGGGGTTCCTGGGACTTTGAACGCTCCACCTCCCTCCTCTCCACAGTCCCCCAACCCCACCTCTCTAACGGGGTGGACGGCCGCCTCTTTCCATCCTTCGCTTGGCGCAGGGTGGGGAGAGTGACAGGTCTCCTTCCCTCATCTCGGCAGCTGCCATTTCATCGCTTACATAACGTGGGAGAAACATCCACCCACCCCCAGGCCTGTGTGAACATCACCACGGGGCCTTCTCCACTCTTCAGTTTTGTTAGTTACTTGATGTGCAGGGCTTTTTGTTGTAACTAGTGGGGGACGTGTGGTGGGGTGGGCTTCTGCCATCTCATTCAGGACCAGAACTTCAGTTTTCATCCCTATCTGTTCCCCCACCCCTTTGGAGATGGGGTCTCACTCTGTCACCCAGGCTG
|
TACAGGCACACACCACCACCCCCTGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCTGGGAGTTGGGTTTGTAAATCTCCCTGAGTGGGGCTGGGGCAGGGAACTGCTGGGTCTGGGTCTTCCTGGCTCCTCTGGTCTGTGGCTTCCTGACTGCGGTGGCCGGGGGCTCCCAGGGCATCGTGGCCGTCTGTCTTGCTGAGCGTGGCACGTGCCTTTCCATGCTGTGGAGGAGCGTCTCCCGGTATGGCGAACTGCTGGTTAGGGTGGGGCGGTGTTGCCAGGTCATCCAGGTCTGGCCTCTGCTCTCGACATCGCCGGCGCTGTTGCTCATCTGCGCTTGTGATGTTCGATGCCTGCTGCACATGTCTTGGCTTCCCTCTTTCCCGGCCTCTGTGAGCTCCAGCGCTGCGTCCCTTCTCTTCCTCCTGTAGAGCCGCAGAGCACACAACATTGACCTGAAGGGGACAGTCGTGATCTTTGACGAAGCTCACAACGTGGTGAGTCTCCGCTGGCCTCCTAAACACCTCCTATTGCTTCTGGCCTTTTTGTCAAGAGCCACGCAAACCTTTCTGGAGGGGCTCTGGCCAAACTCCTGAAGCCCTAGGTGCCCAGGACTGGGGACTGAGCACACCAGGAGCTTCTGCCACCCCCTCCCGCCCTGATCCGATGCCTCTGCTGGGGCTGGAGACTGGCCAGCTGGGCCAGGGACCTGCCCGTCAGGCGCAGGGCCCCCACAGGCCGCTCACCAGACCCTTTCCCTCCAGCCAGCTCGGGGTCAGCCTGGGCCAGGGCTGTCTCCTCTGCCCTCGGCAGCAGCAGGCTTGTGGTCTTGCCTGCAGTGTCTCTGCCCTTCCGGCCACATGGCTTGAGACTGAGGCAGGAGAATCGCTTGAACCTTGGAGGCAGAGGCTGCAGTGAGCCAGGATCACACCACTGCATTCCAGCCTGGGTGACAAAGCGGGATTCTGTGTCAAAAAAAAAAATGTTGACTGGGCGCGCTAGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAAGAGATCAAGACCATCCTGGCCAACATAGTGAAACACCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGTGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTCGAACCCAGGAGGTAGAGGTTGCAATGAGCCAAGATCACACCACTGTACTCCAGCCTGGTGACAGAGCAAGACTCCGTCTCAAAAAAAATAAAATCAAAAAGAATAATTGGCAATTCCAGTGAAATAATTGTTTGTTTGTTTGTTGAGACAGGGTCTCCTTCTGTCGTCCAGGCTGGAGTTCAGTGGTATGATCTTGGCCCACTGCAACCTCCACCTCCTGGGCTCAAGCCATCCTCCCACCTCAGCCTCCCGAGTAGCCGGGACTACAGGTGCACACCACCACGCCCGGCTAATTTTTGTATTTTTTGTAGAGGCGGGGTTTCCCAGCGTTGCCCAGGCTGGTCTTGAACCCCTGAGCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCTGAAACAATCGTTTCTAAATATTGGTGTGGGCCACACAGTCATGTTTGGACCTACTTGTGGCCTTTTACAGACCCCAGGCCAAGGCTTTGGGAACTTGGCTGTCAGCCTCCTGTGCCTTCTGCACCCCCACCCCATTTCTGCTTTCTGGAACCCCCGATCCTGTCCTGTTCTGTGGTGATTCGGGTGTGCTTGGGCTCTAGGAGAAGATGTGTGAAGAATCGGCATCCTTTGACCTGACTCCCCATGACCTGGCTTCAGGACTGGACGTCATAGACCAGGTGCTGGAGGAGCAGACCAAGGCAGCGCAGCAGGGTGAGCCCCACCCGGAGTTAGCGCGGACTCCCCCAGCCCAGGTGCGTTCATAGCCAGACTGCTTGGTCCTGAGGCCTGCGCTGCTGCAGGGTGAGCCCCACCCGGAGTTCAGCACGGACTCCCCCAGCCCAGGTGCGTTCATAGCCAGGCTGCTTGGTCCTGAGGCCCGTGCTACTGCAGTGGGCAGCCTGCCCTGTGGCTGTGTGTGGTCGGCCTGGGCACCATCTATTCAGGCTGGCACTGCAGGGCATCCGCTTCTCTCAGAGGCTTCTTGGGTGTGAATTCTTCAGGGTCCTGTAGCCTGTGGAAGGGCTGGTATTGTTCAGTAGTTCTGGTATTTTCCAAAGACCTATGTCTTCTCCCAGCCAGTATCAACTTGGCCTCTACTGTGTAAAACTGGAAAACTCTACTTTGTGAAGCTGAGTTGGGAGCATCGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCGGAACCTCGCCCCTGCCAAAAAATTAGCCAGGTGTGGTGGTGTGCTCCTGTGGTCCAAGCTTTTCCGGAGGCCGAAGTGGGAGGCGTGCTTGAGCCTGGGAGGCAGAGCTTCCGGTGCCCCAGATGACTCCACTGCACTCCAGCCTGGGCGGCAGAGTGAGGCCATCTCAAAAAAAAAAAAAAGGAAAACTAAATATATTCACTGTAAGGGCATTTTGCATCTTTAAATGACCCACAAATCTGGCATGCATCAGCTGCTCTGCCTGTAGGTTCCTTCCCAGTGTTTGTCCAGAGGTGTATTTCCACACAGCGCTAGTCACGGCATACGTGGAAAACGTGGAAACCCTTCATGGATGTTGTCAGTTGGTCTATATTTTCTTTCTTTTTTTTTTTTTTGAGATGGAGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATCACAGGCGTGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGATGGTTTCTCCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCACGTGATCCACCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCGCCACGCCCGGCCTTTGTCCATATTTTCTACATGGCTTCTGTAAACAGCTGACTAGGAGTCTGTGTGAATATCTTCATAGGTTCTGCTGTGACACTACTTGCTCGTGAGCATCTCCAGGTGTAAACAGCATCAGCTTCCCCCATTTTCCTTTAAAATCGCACATGTGGACGGACACCACGGGGACCCTGGACCCTGGGGAGCCCCGTCCTCACCCTTCTCACCAGGATGGCTGCTTGGTAGAGAGTGAGTTTGCAAAGTTGGCATTTGTTTAGTACAGAAGTTATCAGGTGTTCTGGCTTTAGAATCCCTTTATATATATATATATATACATATATTTAAGTGACAGGGTCTCACTCTGTTGCCCAGGCTGGAATGTGGTGGTACAATCAAAGTTCCCTGTAGCCTCGGCCTCCTGGGCTCATGGGATCTTCCCGTCTCAGCGTCTTAAAGCGCCGGGACCACAGGTGTGCACCACTGCCACCGGCTCTCAAGATTGCCACGCAGGGAGTTGCAGTGGGGGAAGGGGTTCCTGGGACTTTGAACGCTCCACCTCCCTCCTCTCCACAGTCCCCCAACCCCACCTCTCTAACGGGGTGGACGGCCGCCTCTTTCCATCCTTCGCTTGGCGCAGGGTGGGGAGAGTGACAGGTCTCCTTCCCTCATCTCGGCAGCTGCCATTTCATCGCTTACATAACGTGGGAGAAACATCCACCCACCCCCAGGCCTGTGTGAACATCACCACGGGGCCTTCTCCACTCTTCAGTTTTGTTAGTTACTTGATGTGCAGGGCTTTTTGTTGTAACTAGTGGGGGACGTGTGGTGGGGTGGGCTTCTGCCATCTCATTCAGGACCAGAACTTCAGTTTTCATCCCTATCTGTTCCCCCACCCCTTTGGAGATGGGGTCTCACTCTGTCACCCAGGCTGN
|
pathogenic
| 316,624 |
A genetic variant on chromosome 20, position 63678184, affects the gene RTEL1. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Interstitial_lung_disease_2']
|
ACGGCTCACTGCAGCCTCCACCTCCTGCAGCCTCCACCTCTTGGGCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAGCTCCTGGGACTACAGGCGTGTGCCACTGTGCTTGGCAGGGTCCATTCTTTTCCTCACACTTTATTTATTGAAGAGCCCAGGCCGTTTACCCTGCAGAGTCGGAATCTGTACAGGAGGGGCAGCCACACGAGTTCCCCGGTTTACTCTGAACTTAGGTGGCTTGAGGGCCCCAGTTAGACTGCGGCCACCGTTTGCCGGGCTCCAGATGGGACGTCCTTTCTATCAGAAGGCTCACAGTATCTCCTTTCCCGTTTCTTCCCATGTGAACATTGTTGCTGCTGAACACCTGAATATGTTAATCACTGGGGGCTTGCAAGATGGCAGTGTGCTAATTCCATCATCTAGTCAGTTAGCAGGAATAACTTAGGACCACGCCCTGCACCATATCAGCTATGTGGTGATCCCATTCACACAGGAAAGGTGGGACAAATGCTGGGGGTGGGCCGGGTGTGCTGTCTCACACCTGTCATCCCAGCACTTTGGGAGGCCCAGGCAGGCGGATCACGAGGTCAGAGATTGAGACCATCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGTGTGGTGGTGCATGCTTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGCGACAGAGCGAGACTCCGTCTCAAAAATCAATCAGTCAATCAAGTGTCATCACTGAATGTTTGTGTGTGAACGTGGGGATTGGTCCTGCCCCATGCTCCCTCCTGAATCTCACTCCTGACCTCAGTTGCTGCACCTTGAGGTGTTTTCATGTGGGCTCTTGTGTCCTGACCCCGGCGGTTGTGGCCTCTTTGCTGTCTGGGAGTCAGGATTTTTCACACTCATGTCCTGCTCCAGACCTGGAATCAGCCAAGTCTCCAAGAAGCCCTGCTTTCTTTTCCTGCAAGACGGTATTTCAAGACCCGCCATGCGGCAGCGGGTTGGTCATGGTTACTGGGTTGGTCGTTGTTACTGGGTGTTTTCGTGGAGATACAGCCATACGCACAGGTGTGTTCACAAATGTTAATTCTAAAGGTCAAACACCCGGCCAGGCATAAGGGCTCAGCGGTAATCCCAGCACTTTGGGAGACCAAGACTGGTGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGAGCAACAGGGTGAAACCCCATCTCTACTAAAAATGCGAAAATTAGCCGGGCATGGTGGCGCACACCTATAGTCCCAGCTAGTCGGGAGACAGACACGAGAATTGCTTGAACCTGGGACATGGAGGTTGCAGTGAGCAGAGATGGCGCTGCTGCACCCCTGCCTGGGTGACAGAGTGACACCCTGTCTCAAAAATGAATAGATAAATAAAGATAAAACACCTGCTCCTCTTGGTGTCTCCAGTTTGGATTTGGCCTGTGTAGCCTCTTCCTTCGCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCATGTTGGTGGATTTGGCCTGCATGGATTCTGTGTGGCCTCTTCCTTTCCATGTTGGTGTCCTTTTTTCCATGCCAGGAATCCTGGTTCTCAAGGGCGGGGTTGTTGGCACGAGCGTGATGCAGACTGCCTTTGCTGCCTTTCTCTTGCCCAGGGCTGAACATGGAGCTGGAAGACATTGCAAAGCTGAAGAGTAAGTGTTGCCCTCCCCGCCTCCTTGCAGCTGGGTGGGGCCTCCTCCTTGCGAGGAGGTGGGTGACACCTCCTCGACCCACAGTGATCCTGCTGCGCCTGGAGGGGGCCATCGATGCTGTTGAGCTGCCTGGAGACGACAGCGGTGTCACCAAGCCAGGGAGGTGAGAGGCGGGGAGCCAGCCCCTTCACTGCAGGCCCAGCCTAGAGCTAGAAACGGGCCATGGTGCAGTCCTGGGCTGTCACATCACGAGTGAGGCCTGTTTTCAGGCCTGTTTTCCCTTTTTGAGACCTGGGAGGAGCACCTGCTTTGCATGATCTGGTTGCTGAGATGTTGAGAGGAGCAGCACACACTCCCACGGGACAGCACACAGCCCCCCACGGAACGGCACACACACCCATGGAACAGCACACACACTCCCACGAACAGCACACACACTCCCACGAACAGCACACACACTCCCACGGAACAGCACACACACCCACGGAACGGCACACACACCCACGGAACAGCACACACACTCCCACGGAACAGCACACACACCCACGGAACGGCACACACTCCCACGGAACGGCACACTCTCCCACGGAACAGCACACTCTCCCACGGAACAGCACACACACTCCCACGGAACAGCACACACACCCACGGAACGGCACACACTCCCACGGAACAGCAGACTCTCCCACGGAACAGCACACACACTCCCACAGACAGCACACACACACCCACGGAACAGCACACTCTCCCACGCGGGGCCGCTGGGTTTCCTGCAGTTTCTCCTCCTCCAGGCCTTTCCCTGGACCCTGGTCCAGTCCGTCATTTGAGCACAGGTGCCTGTTAGAACGAGACCTTCTTGTTAGGACGATGAGTGTCCCAGCCACCACCTCTTTTGGACTCCGGGAGGCCTGGAACGTTCTGAACGCTCCGTGGGGCTCCAGTCTTCTCCGCAGCCAGGGCAGCAGGGTTTGCTGTCTGTCCTGCAGGCAGATGAGGAGTCAGGGCTGGGGCCTGTGTGGGGGCTCTCCTGAGCGCACAGCCGCCGAGGTGGAGCGTGTTCTGCCTGAGCGCCGACCTGGTCGGGGGAATCCCAGTTGCTTCCAGGTGGAGCCACTGTCCTCAGCGTAATGCTCAAGGCTCTGGCCTGGCTCCTCGGCCACCCTGCACCCTCAGGGTCCCCTCCTGTAGCTTCTGCTGCCCCATCACTGTCACTCTCCAAAGCTTTGGGGACTCTGCCCAGAGCCACCGCCTCCCAGAAGCCCCTGACAACCTCTTGACGACCCCCTAGTGACCCCATCCCTCCCCTCTGACGGCGGCCCCTGCTCTGAGGCGGCTTCTTTTCCTCGGTGCTGTTCTCGTGCTGGCCAGGCCTCCTCTCCCCACCTGGAGGCTCCTGAGGGCGGAGGCCTCTCACCTCCAATGCTGGCGTCCCCTGGAGGGCTGAATTTGTTTCCGAGGGAAGGAAACTTCCACAGTTGTTGCCTTCAGTTCCAAAGCTGCAGCCTGATTTCCCCCTCCAGGCTCGAGCCTGTTTTCTTCTCGGCAGCTACATCTTTGACCAGTGTCGTCCCCCCTCAGGCCCGAGCCTGCCTTCTTCTCCTCAGTTCCCAAAGCTGCAGTCTGGTCCCCCCGCCAGGCTCGAGCCTGCCTTCTTCTCCTCGGCAGCTACATCTTTGAGCTGTTTGCTGAAGCCCAGATCACGTTTCAGACCAAGGGCTGCATCCTGGACTCGCTGGACCAGATCATCCAGCACCTGGCAGGACGTGAGTGCTGGCACGGGGTCTTTGGTGCGGGCAAATGTGGCGTAGGGGGTGCAGCAGGCCTCCATCTTGGCAGTCAGGGCTCCCCTGGCCGTCACCTGGCCGTCAGCAGGAACAGGCCCACAGAACCTCATCTTCTGATCGGGGCGTGGAGGCGTTAGTGCCACTTGCCAGCTGCCGTAGAGCCTGTCCCAGTTCTGCAGCTGGCGGCTTCGTCCTACAGCCTCATCCCATTATTCTGCTTTTGAGAAAGAGCAGCCCAAGGCCCTAGCTGGCTTGTGGGGCCTC
|
ACGGCTCACTGCAGCCTCCACCTCCTGCAGCCTCCACCTCTTGGGCTCAAGTGATCCTCCTGCCTCGGCCTCCCAAGCTCCTGGGACTACAGGCGTGTGCCACTGTGCTTGGCAGGGTCCATTCTTTTCCTCACACTTTATTTATTGAAGAGCCCAGGCCGTTTACCCTGCAGAGTCGGAATCTGTACAGGAGGGGCAGCCACACGAGTTCCCCGGTTTACTCTGAACTTAGGTGGCTTGAGGGCCCCAGTTAGACTGCGGCCACCGTTTGCCGGGCTCCAGATGGGACGTCCTTTCTATCAGAAGGCTCACAGTATCTCCTTTCCCGTTTCTTCCCATGTGAACATTGTTGCTGCTGAACACCTGAATATGTTAATCACTGGGGGCTTGCAAGATGGCAGTGTGCTAATTCCATCATCTAGTCAGTTAGCAGGAATAACTTAGGACCACGCCCTGCACCATATCAGCTATGTGGTGATCCCATTCACACAGGAAAGGTGGGACAAATGCTGGGGGTGGGCCGGGTGTGCTGTCTCACACCTGTCATCCCAGCACTTTGGGAGGCCCAGGCAGGCGGATCACGAGGTCAGAGATTGAGACCATCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGTGTGGTGGTGCATGCTTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGCGACAGAGCGAGACTCCGTCTCAAAAATCAATCAGTCAATCAAGTGTCATCACTGAATGTTTGTGTGTGAACGTGGGGATTGGTCCTGCCCCATGCTCCCTCCTGAATCTCACTCCTGACCTCAGTTGCTGCACCTTGAGGTGTTTTCATGTGGGCTCTTGTGTCCTGACCCCGGCGGTTGTGGCCTCTTTGCTGTCTGGGAGTCAGGATTTTTCACACTCATGTCCTGCTCCAGACCTGGAATCAGCCAAGTCTCCAAGAAGCCCTGCTTTCTTTTCCTGCAAGACGGTATTTCAAGACCCGCCATGCGGCAGCGGGTTGGTCATGGTTACTGGGTTGGTCGTTGTTACTGGGTGTTTTCGTGGAGATACAGCCATACGCACAGGTGTGTTCACAAATGTTAATTCTAAAGGTCAAACACCCGGCCAGGCATAAGGGCTCAGCGGTAATCCCAGCACTTTGGGAGACCAAGACTGGTGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGAGCAACAGGGTGAAACCCCATCTCTACTAAAAATGCGAAAATTAGCCGGGCATGGTGGCGCACACCTATAGTCCCAGCTAGTCGGGAGACAGACACGAGAATTGCTTGAACCTGGGACATGGAGGTTGCAGTGAGCAGAGATGGCGCTGCTGCACCCCTGCCTGGGTGACAGAGTGACACCCTGTCTCAAAAATGAATAGATAAATAAAGATAAAACACCTGCTCCTCTTGGTGTCTCCAGTTTGGATTTGGCCTGTGTAGCCTCTTCCTTCGCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCATGTTGGTGGATTTGGCCTGCATGGATTCTGTGTGGCCTCTTCCTTTCCATGTTGGTGTCCTTTTTTCCATGCCAGGAATCCTGGTTCTCAAGGGCGGGGTTGTTGGCACGAGCGTGATGCAGACTGCCTTTGCTGCCTTTCTCTTGCCCAGGGCTGAACATGGAGCTGGAAGACATTGCAAAGCTGAAGAGTTAAGTGTTGCCCTCCCCGCCTCCTTGCAGCTGGGTGGGGCCTCCTCCTTGCGAGGAGGTGGGTGACACCTCCTCGACCCACAGTGATCCTGCTGCGCCTGGAGGGGGCCATCGATGCTGTTGAGCTGCCTGGAGACGACAGCGGTGTCACCAAGCCAGGGAGGTGAGAGGCGGGGAGCCAGCCCCTTCACTGCAGGCCCAGCCTAGAGCTAGAAACGGGCCATGGTGCAGTCCTGGGCTGTCACATCACGAGTGAGGCCTGTTTTCAGGCCTGTTTTCCCTTTTTGAGACCTGGGAGGAGCACCTGCTTTGCATGATCTGGTTGCTGAGATGTTGAGAGGAGCAGCACACACTCCCACGGGACAGCACACAGCCCCCCACGGAACGGCACACACACCCATGGAACAGCACACACACTCCCACGAACAGCACACACACTCCCACGAACAGCACACACACTCCCACGGAACAGCACACACACCCACGGAACGGCACACACACCCACGGAACAGCACACACACTCCCACGGAACAGCACACACACCCACGGAACGGCACACACTCCCACGGAACGGCACACTCTCCCACGGAACAGCACACTCTCCCACGGAACAGCACACACACTCCCACGGAACAGCACACACACCCACGGAACGGCACACACTCCCACGGAACAGCAGACTCTCCCACGGAACAGCACACACACTCCCACAGACAGCACACACACACCCACGGAACAGCACACTCTCCCACGCGGGGCCGCTGGGTTTCCTGCAGTTTCTCCTCCTCCAGGCCTTTCCCTGGACCCTGGTCCAGTCCGTCATTTGAGCACAGGTGCCTGTTAGAACGAGACCTTCTTGTTAGGACGATGAGTGTCCCAGCCACCACCTCTTTTGGACTCCGGGAGGCCTGGAACGTTCTGAACGCTCCGTGGGGCTCCAGTCTTCTCCGCAGCCAGGGCAGCAGGGTTTGCTGTCTGTCCTGCAGGCAGATGAGGAGTCAGGGCTGGGGCCTGTGTGGGGGCTCTCCTGAGCGCACAGCCGCCGAGGTGGAGCGTGTTCTGCCTGAGCGCCGACCTGGTCGGGGGAATCCCAGTTGCTTCCAGGTGGAGCCACTGTCCTCAGCGTAATGCTCAAGGCTCTGGCCTGGCTCCTCGGCCACCCTGCACCCTCAGGGTCCCCTCCTGTAGCTTCTGCTGCCCCATCACTGTCACTCTCCAAAGCTTTGGGGACTCTGCCCAGAGCCACCGCCTCCCAGAAGCCCCTGACAACCTCTTGACGACCCCCTAGTGACCCCATCCCTCCCCTCTGACGGCGGCCCCTGCTCTGAGGCGGCTTCTTTTCCTCGGTGCTGTTCTCGTGCTGGCCAGGCCTCCTCTCCCCACCTGGAGGCTCCTGAGGGCGGAGGCCTCTCACCTCCAATGCTGGCGTCCCCTGGAGGGCTGAATTTGTTTCCGAGGGAAGGAAACTTCCACAGTTGTTGCCTTCAGTTCCAAAGCTGCAGCCTGATTTCCCCCTCCAGGCTCGAGCCTGTTTTCTTCTCGGCAGCTACATCTTTGACCAGTGTCGTCCCCCCTCAGGCCCGAGCCTGCCTTCTTCTCCTCAGTTCCCAAAGCTGCAGTCTGGTCCCCCCGCCAGGCTCGAGCCTGCCTTCTTCTCCTCGGCAGCTACATCTTTGAGCTGTTTGCTGAAGCCCAGATCACGTTTCAGACCAAGGGCTGCATCCTGGACTCGCTGGACCAGATCATCCAGCACCTGGCAGGACGTGAGTGCTGGCACGGGGTCTTTGGTGCGGGCAAATGTGGCGTAGGGGGTGCAGCAGGCCTCCATCTTGGCAGTCAGGGCTCCCCTGGCCGTCACCTGGCCGTCAGCAGGAACAGGCCCACAGAACCTCATCTTCTGATCGGGGCGTGGAGGCGTTAGTGCCACTTGCCAGCTGCCGTAGAGCCTGTCCCAGTTCTGCAGCTGGCGGCTTCGTCCTACAGCCTCATCCCATTATTCTGCTTTTGAGAAAGAGCAGCCCAAGGCCCTAGCTGGCTTGTGGGGCCT
|
pathogenic
| 316,631 |
A genetic variant on chromosome 20, position 63678291, affects the gene RTEL1. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3']
|
CTTGGCAGGGTCCATTCTTTTCCTCACACTTTATTTATTGAAGAGCCCAGGCCGTTTACCCTGCAGAGTCGGAATCTGTACAGGAGGGGCAGCCACACGAGTTCCCCGGTTTACTCTGAACTTAGGTGGCTTGAGGGCCCCAGTTAGACTGCGGCCACCGTTTGCCGGGCTCCAGATGGGACGTCCTTTCTATCAGAAGGCTCACAGTATCTCCTTTCCCGTTTCTTCCCATGTGAACATTGTTGCTGCTGAACACCTGAATATGTTAATCACTGGGGGCTTGCAAGATGGCAGTGTGCTAATTCCATCATCTAGTCAGTTAGCAGGAATAACTTAGGACCACGCCCTGCACCATATCAGCTATGTGGTGATCCCATTCACACAGGAAAGGTGGGACAAATGCTGGGGGTGGGCCGGGTGTGCTGTCTCACACCTGTCATCCCAGCACTTTGGGAGGCCCAGGCAGGCGGATCACGAGGTCAGAGATTGAGACCATCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGTGTGGTGGTGCATGCTTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGCGACAGAGCGAGACTCCGTCTCAAAAATCAATCAGTCAATCAAGTGTCATCACTGAATGTTTGTGTGTGAACGTGGGGATTGGTCCTGCCCCATGCTCCCTCCTGAATCTCACTCCTGACCTCAGTTGCTGCACCTTGAGGTGTTTTCATGTGGGCTCTTGTGTCCTGACCCCGGCGGTTGTGGCCTCTTTGCTGTCTGGGAGTCAGGATTTTTCACACTCATGTCCTGCTCCAGACCTGGAATCAGCCAAGTCTCCAAGAAGCCCTGCTTTCTTTTCCTGCAAGACGGTATTTCAAGACCCGCCATGCGGCAGCGGGTTGGTCATGGTTACTGGGTTGGTCGTTGTTACTGGGTGTTTTCGTGGAGATACAGCCATACGCACAGGTGTGTTCACAAATGTTAATTCTAAAGGTCAAACACCCGGCCAGGCATAAGGGCTCAGCGGTAATCCCAGCACTTTGGGAGACCAAGACTGGTGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGAGCAACAGGGTGAAACCCCATCTCTACTAAAAATGCGAAAATTAGCCGGGCATGGTGGCGCACACCTATAGTCCCAGCTAGTCGGGAGACAGACACGAGAATTGCTTGAACCTGGGACATGGAGGTTGCAGTGAGCAGAGATGGCGCTGCTGCACCCCTGCCTGGGTGACAGAGTGACACCCTGTCTCAAAAATGAATAGATAAATAAAGATAAAACACCTGCTCCTCTTGGTGTCTCCAGTTTGGATTTGGCCTGTGTAGCCTCTTCCTTCGCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCATGTTGGTGGATTTGGCCTGCATGGATTCTGTGTGGCCTCTTCCTTTCCATGTTGGTGTCCTTTTTTCCATGCCAGGAATCCTGGTTCTCAAGGGCGGGGTTGTTGGCACGAGCGTGATGCAGACTGCCTTTGCTGCCTTTCTCTTGCCCAGGGCTGAACATGGAGCTGGAAGACATTGCAAAGCTGAAGAGTAAGTGTTGCCCTCCCCGCCTCCTTGCAGCTGGGTGGGGCCTCCTCCTTGCGAGGAGGTGGGTGACACCTCCTCGACCCACAGTGATCCTGCTGCGCCTGGAGGGGGCCATCGATGCTGTTGAGCTGCCTGGAGACGACAGCGGTGTCACCAAGCCAGGGAGGTGAGAGGCGGGGAGCCAGCCCCTTCACTGCAGGCCCAGCCTAGAGCTAGAAACGGGCCATGGTGCAGTCCTGGGCTGTCACATCACGAGTGAGGCCTGTTTTCAGGCCTGTTTTCCCTTTTTGAGACCTGGGAGGAGCACCTGCTTTGCATGATCTGGTTGCTGAGATGTTGAGAGGAGCAGCACACACTCCCACGGGACAGCACACAGCCCCCCACGGAACGGCACACACACCCATGGAACAGCACACACACTCCCACGAACAGCACACACACTCCCACGAACAGCACACACACTCCCACGGAACAGCACACACACCCACGGAACGGCACACACACCCACGGAACAGCACACACACTCCCACGGAACAGCACACACACCCACGGAACGGCACACACTCCCACGGAACGGCACACTCTCCCACGGAACAGCACACTCTCCCACGGAACAGCACACACACTCCCACGGAACAGCACACACACCCACGGAACGGCACACACTCCCACGGAACAGCAGACTCTCCCACGGAACAGCACACACACTCCCACAGACAGCACACACACACCCACGGAACAGCACACTCTCCCACGCGGGGCCGCTGGGTTTCCTGCAGTTTCTCCTCCTCCAGGCCTTTCCCTGGACCCTGGTCCAGTCCGTCATTTGAGCACAGGTGCCTGTTAGAACGAGACCTTCTTGTTAGGACGATGAGTGTCCCAGCCACCACCTCTTTTGGACTCCGGGAGGCCTGGAACGTTCTGAACGCTCCGTGGGGCTCCAGTCTTCTCCGCAGCCAGGGCAGCAGGGTTTGCTGTCTGTCCTGCAGGCAGATGAGGAGTCAGGGCTGGGGCCTGTGTGGGGGCTCTCCTGAGCGCACAGCCGCCGAGGTGGAGCGTGTTCTGCCTGAGCGCCGACCTGGTCGGGGGAATCCCAGTTGCTTCCAGGTGGAGCCACTGTCCTCAGCGTAATGCTCAAGGCTCTGGCCTGGCTCCTCGGCCACCCTGCACCCTCAGGGTCCCCTCCTGTAGCTTCTGCTGCCCCATCACTGTCACTCTCCAAAGCTTTGGGGACTCTGCCCAGAGCCACCGCCTCCCAGAAGCCCCTGACAACCTCTTGACGACCCCCTAGTGACCCCATCCCTCCCCTCTGACGGCGGCCCCTGCTCTGAGGCGGCTTCTTTTCCTCGGTGCTGTTCTCGTGCTGGCCAGGCCTCCTCTCCCCACCTGGAGGCTCCTGAGGGCGGAGGCCTCTCACCTCCAATGCTGGCGTCCCCTGGAGGGCTGAATTTGTTTCCGAGGGAAGGAAACTTCCACAGTTGTTGCCTTCAGTTCCAAAGCTGCAGCCTGATTTCCCCCTCCAGGCTCGAGCCTGTTTTCTTCTCGGCAGCTACATCTTTGACCAGTGTCGTCCCCCCTCAGGCCCGAGCCTGCCTTCTTCTCCTCAGTTCCCAAAGCTGCAGTCTGGTCCCCCCGCCAGGCTCGAGCCTGCCTTCTTCTCCTCGGCAGCTACATCTTTGAGCTGTTTGCTGAAGCCCAGATCACGTTTCAGACCAAGGGCTGCATCCTGGACTCGCTGGACCAGATCATCCAGCACCTGGCAGGACGTGAGTGCTGGCACGGGGTCTTTGGTGCGGGCAAATGTGGCGTAGGGGGTGCAGCAGGCCTCCATCTTGGCAGTCAGGGCTCCCCTGGCCGTCACCTGGCCGTCAGCAGGAACAGGCCCACAGAACCTCATCTTCTGATCGGGGCGTGGAGGCGTTAGTGCCACTTGCCAGCTGCCGTAGAGCCTGTCCCAGTTCTGCAGCTGGCGGCTTCGTCCTACAGCCTCATCCCATTATTCTGCTTTTGAGAAAGAGCAGCCCAAGGCCCTAGCTGGCTTGTGGGGCCTCTGGCTTCTCCACACCACCCCGAGTTCTGCTTCTCAGAGTTGTGGGGTCCAGAGGCTTTGCCCAGAGGCGGTGTCCCCATGGGCTGCTCTGGTTTGAGACGCCGGGCC
|
CTTGGCAGGGTCCATTCTTTTCCTCACACTTTATTTATTGAAGAGCCCAGGCCGTTTACCCTGCAGAGTCGGAATCTGTACAGGAGGGGCAGCCACACGAGTTCCCCGGTTTACTCTGAACTTAGGTGGCTTGAGGGCCCCAGTTAGACTGCGGCCACCGTTTGCCGGGCTCCAGATGGGACGTCCTTTCTATCAGAAGGCTCACAGTATCTCCTTTCCCGTTTCTTCCCATGTGAACATTGTTGCTGCTGAACACCTGAATATGTTAATCACTGGGGGCTTGCAAGATGGCAGTGTGCTAATTCCATCATCTAGTCAGTTAGCAGGAATAACTTAGGACCACGCCCTGCACCATATCAGCTATGTGGTGATCCCATTCACACAGGAAAGGTGGGACAAATGCTGGGGGTGGGCCGGGTGTGCTGTCTCACACCTGTCATCCCAGCACTTTGGGAGGCCCAGGCAGGCGGATCACGAGGTCAGAGATTGAGACCATCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGTGTGGTGGTGCATGCTTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGCGACAGAGCGAGACTCCGTCTCAAAAATCAATCAGTCAATCAAGTGTCATCACTGAATGTTTGTGTGTGAACGTGGGGATTGGTCCTGCCCCATGCTCCCTCCTGAATCTCACTCCTGACCTCAGTTGCTGCACCTTGAGGTGTTTTCATGTGGGCTCTTGTGTCCTGACCCCGGCGGTTGTGGCCTCTTTGCTGTCTGGGAGTCAGGATTTTTCACACTCATGTCCTGCTCCAGACCTGGAATCAGCCAAGTCTCCAAGAAGCCCTGCTTTCTTTTCCTGCAAGACGGTATTTCAAGACCCGCCATGCGGCAGCGGGTTGGTCATGGTTACTGGGTTGGTCGTTGTTACTGGGTGTTTTCGTGGAGATACAGCCATACGCACAGGTGTGTTCACAAATGTTAATTCTAAAGGTCAAACACCCGGCCAGGCATAAGGGCTCAGCGGTAATCCCAGCACTTTGGGAGACCAAGACTGGTGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGAGCAACAGGGTGAAACCCCATCTCTACTAAAAATGCGAAAATTAGCCGGGCATGGTGGCGCACACCTATAGTCCCAGCTAGTCGGGAGACAGACACGAGAATTGCTTGAACCTGGGACATGGAGGTTGCAGTGAGCAGAGATGGCGCTGCTGCACCCCTGCCTGGGTGACAGAGTGACACCCTGTCTCAAAAATGAATAGATAAATAAAGATAAAACACCTGCTCCTCTTGGTGTCTCCAGTTTGGATTTGGCCTGTGTAGCCTCTTCCTTCGCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCCTGTTGGTGGATTTGGCCTGCACGGATTCTGTGTGGCCTCTTCCTTCCCATGTTGGTGGATTTGGCCTGCATGGATTCTGTGTGGCCTCTTCCTTTCCATGTTGGTGTCCTTTTTTCCATGCCAGGAATCCTGGTTCTCAAGGGCGGGGTTGTTGGCACGAGCGTGATGCAGACTGCCTTTGCTGCCTTTCTCTTGCCCAGGGCTGAACATGGAGCTGGAAGACATTGCAAAGCTGAAGAGTAAGTGTTGCCCTCCCCGCCTCCTTGCAGCTGGGTGGGGCCTCCTCCTTGCGAGGAGGTGGGTGACACCTCCTCGACCCACAGTGATCCTGCTGCGCCTGGAGGGGGCATCGATGCTGTTGAGCTGCCTGGAGACGACAGCGGTGTCACCAAGCCAGGGAGGTGAGAGGCGGGGAGCCAGCCCCTTCACTGCAGGCCCAGCCTAGAGCTAGAAACGGGCCATGGTGCAGTCCTGGGCTGTCACATCACGAGTGAGGCCTGTTTTCAGGCCTGTTTTCCCTTTTTGAGACCTGGGAGGAGCACCTGCTTTGCATGATCTGGTTGCTGAGATGTTGAGAGGAGCAGCACACACTCCCACGGGACAGCACACAGCCCCCCACGGAACGGCACACACACCCATGGAACAGCACACACACTCCCACGAACAGCACACACACTCCCACGAACAGCACACACACTCCCACGGAACAGCACACACACCCACGGAACGGCACACACACCCACGGAACAGCACACACACTCCCACGGAACAGCACACACACCCACGGAACGGCACACACTCCCACGGAACGGCACACTCTCCCACGGAACAGCACACTCTCCCACGGAACAGCACACACACTCCCACGGAACAGCACACACACCCACGGAACGGCACACACTCCCACGGAACAGCAGACTCTCCCACGGAACAGCACACACACTCCCACAGACAGCACACACACACCCACGGAACAGCACACTCTCCCACGCGGGGCCGCTGGGTTTCCTGCAGTTTCTCCTCCTCCAGGCCTTTCCCTGGACCCTGGTCCAGTCCGTCATTTGAGCACAGGTGCCTGTTAGAACGAGACCTTCTTGTTAGGACGATGAGTGTCCCAGCCACCACCTCTTTTGGACTCCGGGAGGCCTGGAACGTTCTGAACGCTCCGTGGGGCTCCAGTCTTCTCCGCAGCCAGGGCAGCAGGGTTTGCTGTCTGTCCTGCAGGCAGATGAGGAGTCAGGGCTGGGGCCTGTGTGGGGGCTCTCCTGAGCGCACAGCCGCCGAGGTGGAGCGTGTTCTGCCTGAGCGCCGACCTGGTCGGGGGAATCCCAGTTGCTTCCAGGTGGAGCCACTGTCCTCAGCGTAATGCTCAAGGCTCTGGCCTGGCTCCTCGGCCACCCTGCACCCTCAGGGTCCCCTCCTGTAGCTTCTGCTGCCCCATCACTGTCACTCTCCAAAGCTTTGGGGACTCTGCCCAGAGCCACCGCCTCCCAGAAGCCCCTGACAACCTCTTGACGACCCCCTAGTGACCCCATCCCTCCCCTCTGACGGCGGCCCCTGCTCTGAGGCGGCTTCTTTTCCTCGGTGCTGTTCTCGTGCTGGCCAGGCCTCCTCTCCCCACCTGGAGGCTCCTGAGGGCGGAGGCCTCTCACCTCCAATGCTGGCGTCCCCTGGAGGGCTGAATTTGTTTCCGAGGGAAGGAAACTTCCACAGTTGTTGCCTTCAGTTCCAAAGCTGCAGCCTGATTTCCCCCTCCAGGCTCGAGCCTGTTTTCTTCTCGGCAGCTACATCTTTGACCAGTGTCGTCCCCCCTCAGGCCCGAGCCTGCCTTCTTCTCCTCAGTTCCCAAAGCTGCAGTCTGGTCCCCCCGCCAGGCTCGAGCCTGCCTTCTTCTCCTCGGCAGCTACATCTTTGAGCTGTTTGCTGAAGCCCAGATCACGTTTCAGACCAAGGGCTGCATCCTGGACTCGCTGGACCAGATCATCCAGCACCTGGCAGGACGTGAGTGCTGGCACGGGGTCTTTGGTGCGGGCAAATGTGGCGTAGGGGGTGCAGCAGGCCTCCATCTTGGCAGTCAGGGCTCCCCTGGCCGTCACCTGGCCGTCAGCAGGAACAGGCCCACAGAACCTCATCTTCTGATCGGGGCGTGGAGGCGTTAGTGCCACTTGCCAGCTGCCGTAGAGCCTGTCCCAGTTCTGCAGCTGGCGGCTTCGTCCTACAGCCTCATCCCATTATTCTGCTTTTGAGAAAGAGCAGCCCAAGGCCCTAGCTGGCTTGTGGGGCCTCTGGCTTCTCCACACCACCCCGAGTTCTGCTTCTCAGAGTTGTGGGGTCCAGAGGCTTTGCCCAGAGGCGGTGTCCCCATGGGCTGCTCTGGTTTGAGACGCCGGGCCN
|
pathogenic
| 316,636 |
Does the genetic variant at chromosome 20, position 63685513, impacting gene RTEL1, appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
benign
|
CTCTCCTTCTGTGCGTACCCAGGCACGTGCACATGCATGCAGAGTACGCACACACGCACGCACGCCTGCACAAATCCACGCATGTTGCCAAGTCTCTGTGTTCCAGCCGTGGTGTCTGCCCCCCGGTGTTCTCTAGTTCGGCTTCTCCGCATTTCTGTGAATGATTCCGGCTTCTTGGTGTTCCCAGCAGAACTCCCTCAAGTCTGCGGCGGGGCTCTGACGGCGGTGGCTTGGCTGACATGGCCACATTGCTGAGCCTGTTGGGGGCTTTGCGTTCCTGTTCTGGCCGTTTTTGGCTCGTTTTCCAGGAACGGTCGTCACGCGCTCCTCTCCTAGTGCAGGCATCATTCCTTTCCCATTGATTTGCAGGGTTCTCTGTAAGTTCTGAGGATCCCATATACATATACTCTCTGTAAGTTCTGAGGATCCCATATACATATTCTCTCTCTAAGTTCTGAGGATCCCATATACATATTCTCTCTCTAAGTTCTGAGGATCCCATGCCGACATACATATTCTTTCCTTGTCTCATGCTGGTCATTTTTTCCATTTTCATGACAGGTTTGGTGAACACATGTTTCCTTGTCAGATTTTTGTTCTGAGCTTGTGCCTCCCGACCAAGATGCTAAACCGGGTCTTGTGTATTCTCCAAACTGCACTGTAGAGTGACGGAGCTTTGTGTCTGGGCCTCCATGCCTTCTGACGTCACCTGTGGGGGTGTGAAAGGCAGACTCTACCTTGATTTTTCCCAGCACGCCACACCGGTGGTTCTGTGCGCTGACCGAGCGGCTCGGCTTCCCCCAACTCCACTGGGCACCTGCCACACTTTTCCTCATGTTTTTGTTCACTGTGGTTTTGTCGTAAGTCCTGGTGTTGGCCTGAACCAATTTCTTTTTGTTTGTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAATACCTGGGATTATAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGATATTTTTAGTAGAAATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCTCTCACCTTGGCCTCCCAGAGTGCTGGGATTACGGGTGTGAGCCACCACGCCCGGCCTCTTGTTCTTTTGAAACCTGCCCTGACGTTTTTTCCATAGTGCATCTTGGAGTCAGCGTGTCTACTTCCTGTAAAAATCTTACTGTGATTTTGACTAGAATGTGTTGAATTCCTGTTTTTTTTTTGAGTCAGGGTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGGACCATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAGGGGATCCTCTCAGCTCAACCTCCCAAGTAGCTGGGACCACAGGCACATGCCACCATGCCCGGCTAGGTTTTTTTTTTTTTTTTTTTGGTGAACACCCTGGGGTTGCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGTTCGGGCAGTTTGCTCCTCTCAGCCTCCCGGAGTGCTGGGATTACAGGCCTGAGCCACTGCACTAGGCCATGTTGAATTTCTAGATTAATTTGGGGCCCTCAGGGGCACAGAGAGGAGGGCTGGGCCAGTTGGCGGGAGGAGAGGCCCCTCGGGCTGCCGCATTTTCAGTGCATGGAGATGGCCTATGTTGGGGGAACACAGAGCTCACCGGGGGTCCCTGCAGGGAGGAGAAAGGGTCAGGCAGGTGCCAGCTCCTGTCCATTGGCCTGGGGCTGCATGATGGCAGGGGCCGGTGAACCGATGACCCCTGGGTGTCCTGTGACCTTCTGTGTATGCGGCTGATGCTGCAGAAAGTCGGGTGGCCTCAGGCTCCTGACGGGGCTGCACTTCCTCTGCCTTTCAGATTGTGTTCAGTGTGGACCCCTCCGAGGGCAGCCCTGGTTCCCCAGCAGGGCTGGGGGCCTTACAGTCCTATAAGGTAGGGGCCACCTCCAGGAGGCAGGTGGAGGGCAGCCCTTGTTCCCCGGCAGGGCTGGGGGCCTTACAGTCCTATAAGGTGGGGGCCACCTCCAGGAGGCAGGTGGGGCTGGGGGTCTTCTGGTCCTAAAAGGTAAGGGGCTGCCCCCAGGACATGGGCGGGGCCTCCACACTCCTGGTCCTGTCCCCTCCAGGTGCACATCCATCCTGATGCTGGTCACCGGAGGACGGCTCAGCGGTCTGATGCCTGGAGCACCACTGCAGCCAGAAAGCGAGGTACAGACCTGGGCCCACACGCTCCCCGCCCGCCCGGGTGCAGTGCCCGGCACCACCATGCCACAGGCTAGGCACATGCCCAGCCGTGGATCTCCTGCCCCCATGGGCCTGGCCACCTTCTCCATATCCAGGCCAATCCAGAGCATTCTCCTCACTGTCCCTCTGAAGATTGGAGTTACTGAGAGACGTAGGAGATGGCCTGATGGCACCGTGACCTGCCCAGAGTCACCTGGTTGGTGGTGGCAGAGCCACAGCCCAGCCAGGCCTCCCTGCTGGGACACGCTCGTTTATGCCGAGGCCGTCAGCACAGAGCCTCCACAGTGAGGCACGGCTCTGCCTGCTGCCTCCACGCAGCGCCTGGCCGGGCCAAGCCTCAGGGTCACATCTGAAGGGGGCCCGGCTGGCCCTGTTGTCCGAAGCCCCTGGTGCGCTCAGCCCCGAGGCCCCACGTGCCTTCTTGGCTTCCTGTGCTCCGTGGCGTCTTCGAGTCGGTGCTGCCGGGGACGCTGTGTGGATGGGGTCTGTGAGTGTGCCCTCGGCTCCGTGTCCGGAGCCCTGTGGTTCTTGGGGTGTATCTGGCCCCACCCCCACTGCGTGGTGTCCAGGGTGGGGCTTCACGGCTGCAGCTGCGGGAGCTGCTGCCCCTGCCTTGTGCTCCAGTGGGGCCTTGCCTCTGGGCTTGGTTCGTCCCTCTCTGGAACATTCTTTCTCAGCTGCTGTCCGACCCATGGTGGCATGACGTGGCCCTGGCTGAAGCAGCCCTTGTGCGGTTGCTGTGGTTGGGTCTGCCTGGCCGAGCCGGAAGGGAAGGGCTGGGAGGGCGTCAGGGTGGCGTGGCTTGACCCCCGCTCGGTGATGGTCCTGCAGCAAGGCCTCTCCCAGCAGGAAGCGTCCATCCCGGGGGGAGGCCGGCGCCCCTCACGCAGTTGGGGTTGCGGGAGGCAGTGCGTGCCTGAGGCAGCCGGTGCACAGATTCCAAGGGCCTGGAATCTGTTTGTTCCATTGACCTCTGATGTCACTTGACTTCTCAGAAGCAGCCACTCCCTGCACTGGGCGTTTGTAGGAAATGAGCTCCTGGAGGAGGGGGTGGGGAAGTTCCCCCATTGCAGGGCACACTCAGCCCCAGGAAGGAAACGTGCCTCGTCCCTGCTGACTCCGAATCGCAGTCAGAGTCGTTCTGCTTGTGCCGTGTTGAATTCCCGGCATCCGGCATCCAGACTCAGCCTCCTCCCCAGGCCACGGCCGCCGTGGCCAGTCGGTCAAGCCCTTCTAGGAACTTCCTTTGAGCTGGCGCCCTTGTTCACTGCTGACGCCACTCAGAGGCTTGTGCACGTGTCCTGCTTCCAGGCAGAGCTGGGAACTCGCACCCCGTCTTCTGCACGCGGCCGTGGAATGTCGGGATGCCGGCGCTTCCTTCCCGTGTGCTCTTGGCGGGGTGGGCTTCTTGCCCTGAGCCGCATGTCACAGTTTCTGCAGAAGTTTAGGGTTGGAGTGGGCTGACCTCTCTGCAGGTGTCCCCAGCCTCTGCCTGGGGTCTGCCTCCTACTCCCAGGACCCCCTGTCCCCCAGAGGGGCCCCAAGCTGGCAGGCTCACACTCAGGGCAGCCTCCTTTGTTCTGACTTCTGCACAGTGGGCCTGGGTGGCTGCCCGCGGCTCGCTTGCTTGATGCCAGTGGGTGGAGAGGGTG
|
CTCTCCTTCTGTGCGTACCCAGGCACGTGCACATGCATGCAGAGTACGCACACACGCACGCACGCCTGCACAAATCCACGCATGTTGCCAAGTCTCTGTGTTCCAGCCGTGGTGTCTGCCCCCCGGTGTTCTCTAGTTCGGCTTCTCCGCATTTCTGTGAATGATTCCGGCTTCTTGGTGTTCCCAGCAGAACTCCCTCAAGTCTGCGGCGGGGCTCTGACGGCGGTGGCTTGGCTGACATGGCCACATTGCTGAGCCTGTTGGGGGCTTTGCGTTCCTGTTCTGGCCGTTTTTGGCTCGTTTTCCAGGAACGGTCGTCACGCGCTCCTCTCCTAGTGCAGGCATCATTCCTTTCCCATTGATTTGCAGGGTTCTCTGTAAGTTCTGAGGATCCCATATACATATACTCTCTGTAAGTTCTGAGGATCCCATATACATATTCTCTCTCTAAGTTCTGAGGATCCCATATACATATTCTCTCTCTAAGTTCTGAGGATCCCATGCCGACATACATATTCTTTCCTTGTCTCATGCTGGTCATTTTTTCCATTTTCATGACAGGTTTGGTGAACACATGTTTCCTTGTCAGATTTTTGTTCTGAGCTTGTGCCTCCCGACCAAGATGCTAAACCGGGTCTTGTGTATTCTCCAAACTGCACTGTAGAGTGACGGAGCTTTGTGTCTGGGCCTCCATGCCTTCTGACGTCACCTGTGGGGGTGTGAAAGGCAGACTCTACCTTGATTTTTCCCAGCACGCCACACCGGTGGTTCTGTGCGCTGACCGAGCGGCTCGGCTTCCCCCAACTCCACTGGGCACCTGCCACACTTTTCCTCATGTTTTTGTTCACTGTGGTTTTGTCGTAAGTCCTGGTGTTGGCCTGAACCAATTTCTTTTTGTTTGTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAATACCTGGGATTATAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGATATTTTTAGTAGAAATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCTCTCACCTTGGCCTCCCAGAGTGCTGGGATTACGGGTGTGAGCCACCACGCCCGGCCTCTTGTTCTTTTGAAACCTGCCCTGACGTTTTTTCCATAGTGCATCTTGGAGTCAGCGTGTCTACTTCCTGTAAAAATCTTACTGTGATTTTGACTAGAATGTGTTGAATTCCTGTTTTTTTTTTGAGTCAGGGTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGGACCATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAGGGGATCCTCTCAGCTCAACCTCCCAAGTAGCTGGGACCACAGGCACATGCCACCATGCCCGGCTAGGTTTTTTTTTTTTTTTTTTTGGTGAACACCCTGGGGTTGCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGTTCGGGCAGTTTGCTCCTCTCAGCCTCCCGGAGTGCTGGGATTACAGGCCTGAGCCACTGCACTAGGCCATGTTGAATTTCTAGATTAATTTGGGGCCCTCAGGGGCACAGAGAGGAGGGCTGGGCCAGTTGGCGGGAGGAGAGGCCCCTCGGGCTGCCGCATTTTCAGTGCATGGAGATGGCCTATGTTGGGGGAACACAGAGCTCACCGGGGGTCCCTGCAGGGAGGAGAAAGGGTCAGGCAGGTGCCAGCTCCTGTCCATTGGCCTGGGGCTGCATGATGGCAGGGGCCGGTGAACCGATGACCCCTGGGTGTCCTGTGACCTTCTGTGTATGCGGCTGATGCTGCAGAAAGTCGGGTGGCCTCAGGCTCCTGACGGGGCTGCACTTCCTCTCCTTTCAGATTGTGTTCAGTGTGGACCCCTCCGAGGGCAGCCCTGGTTCCCCAGCAGGGCTGGGGGCCTTACAGTCCTATAAGGTAGGGGCCACCTCCAGGAGGCAGGTGGAGGGCAGCCCTTGTTCCCCGGCAGGGCTGGGGGCCTTACAGTCCTATAAGGTGGGGGCCACCTCCAGGAGGCAGGTGGGGCTGGGGGTCTTCTGGTCCTAAAAGGTAAGGGGCTGCCCCCAGGACATGGGCGGGGCCTCCACACTCCTGGTCCTGTCCCCTCCAGGTGCACATCCATCCTGATGCTGGTCACCGGAGGACGGCTCAGCGGTCTGATGCCTGGAGCACCACTGCAGCCAGAAAGCGAGGTACAGACCTGGGCCCACACGCTCCCCGCCCGCCCGGGTGCAGTGCCCGGCACCACCATGCCACAGGCTAGGCACATGCCCAGCCGTGGATCTCCTGCCCCCATGGGCCTGGCCACCTTCTCCATATCCAGGCCAATCCAGAGCATTCTCCTCACTGTCCCTCTGAAGATTGGAGTTACTGAGAGACGTAGGAGATGGCCTGATGGCACCGTGACCTGCCCAGAGTCACCTGGTTGGTGGTGGCAGAGCCACAGCCCAGCCAGGCCTCCCTGCTGGGACACGCTCGTTTATGCCGAGGCCGTCAGCACAGAGCCTCCACAGTGAGGCACGGCTCTGCCTGCTGCCTCCACGCAGCGCCTGGCCGGGCCAAGCCTCAGGGTCACATCTGAAGGGGGCCCGGCTGGCCCTGTTGTCCGAAGCCCCTGGTGCGCTCAGCCCCGAGGCCCCACGTGCCTTCTTGGCTTCCTGTGCTCCGTGGCGTCTTCGAGTCGGTGCTGCCGGGGACGCTGTGTGGATGGGGTCTGTGAGTGTGCCCTCGGCTCCGTGTCCGGAGCCCTGTGGTTCTTGGGGTGTATCTGGCCCCACCCCCACTGCGTGGTGTCCAGGGTGGGGCTTCACGGCTGCAGCTGCGGGAGCTGCTGCCCCTGCCTTGTGCTCCAGTGGGGCCTTGCCTCTGGGCTTGGTTCGTCCCTCTCTGGAACATTCTTTCTCAGCTGCTGTCCGACCCATGGTGGCATGACGTGGCCCTGGCTGAAGCAGCCCTTGTGCGGTTGCTGTGGTTGGGTCTGCCTGGCCGAGCCGGAAGGGAAGGGCTGGGAGGGCGTCAGGGTGGCGTGGCTTGACCCCCGCTCGGTGATGGTCCTGCAGCAAGGCCTCTCCCAGCAGGAAGCGTCCATCCCGGGGGGAGGCCGGCGCCCCTCACGCAGTTGGGGTTGCGGGAGGCAGTGCGTGCCTGAGGCAGCCGGTGCACAGATTCCAAGGGCCTGGAATCTGTTTGTTCCATTGACCTCTGATGTCACTTGACTTCTCAGAAGCAGCCACTCCCTGCACTGGGCGTTTGTAGGAAATGAGCTCCTGGAGGAGGGGGTGGGGAAGTTCCCCCATTGCAGGGCACACTCAGCCCCAGGAAGGAAACGTGCCTCGTCCCTGCTGACTCCGAATCGCAGTCAGAGTCGTTCTGCTTGTGCCGTGTTGAATTCCCGGCATCCGGCATCCAGACTCAGCCTCCTCCCCAGGCCACGGCCGCCGTGGCCAGTCGGTCAAGCCCTTCTAGGAACTTCCTTTGAGCTGGCGCCCTTGTTCACTGCTGACGCCACTCAGAGGCTTGTGCACGTGTCCTGCTTCCAGGCAGAGCTGGGAACTCGCACCCCGTCTTCTGCACGCGGCCGTGGAATGTCGGGATGCCGGCGCTTCCTTCCCGTGTGCTCTTGGCGGGGTGGGCTTCTTGCCCTGAGCCGCATGTCACAGTTTCTGCAGAAGTTTAGGGTTGGAGTGGGCTGACCTCTCTGCAGGTGTCCCCAGCCTCTGCCTGGGGTCTGCCTCCTACTCCCAGGACCCCCTGTCCCCCAGAGGGGCCCCAAGCTGGCAGGCTCACACTCAGGGCAGCCTCCTTTGTTCTGACTTCTGCACAGTGGGCCTGGGTGGCTGCCCGCGGCTCGCTTGCTTGATGCCAGTGGGTGGAGAGGGTGN
|
benign
| 316,663 |
The mutation in gene RTEL1 at chromosome 20, position 63687624—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
GGGGGCCTTACAGTCCTATAAGGTAGGGGCCACCTCCAGGAGGCAGGTGGAGGGCAGCCCTTGTTCCCCGGCAGGGCTGGGGGCCTTACAGTCCTATAAGGTGGGGGCCACCTCCAGGAGGCAGGTGGGGCTGGGGGTCTTCTGGTCCTAAAAGGTAAGGGGCTGCCCCCAGGACATGGGCGGGGCCTCCACACTCCTGGTCCTGTCCCCTCCAGGTGCACATCCATCCTGATGCTGGTCACCGGAGGACGGCTCAGCGGTCTGATGCCTGGAGCACCACTGCAGCCAGAAAGCGAGGTACAGACCTGGGCCCACACGCTCCCCGCCCGCCCGGGTGCAGTGCCCGGCACCACCATGCCACAGGCTAGGCACATGCCCAGCCGTGGATCTCCTGCCCCCATGGGCCTGGCCACCTTCTCCATATCCAGGCCAATCCAGAGCATTCTCCTCACTGTCCCTCTGAAGATTGGAGTTACTGAGAGACGTAGGAGATGGCCTGATGGCACCGTGACCTGCCCAGAGTCACCTGGTTGGTGGTGGCAGAGCCACAGCCCAGCCAGGCCTCCCTGCTGGGACACGCTCGTTTATGCCGAGGCCGTCAGCACAGAGCCTCCACAGTGAGGCACGGCTCTGCCTGCTGCCTCCACGCAGCGCCTGGCCGGGCCAAGCCTCAGGGTCACATCTGAAGGGGGCCCGGCTGGCCCTGTTGTCCGAAGCCCCTGGTGCGCTCAGCCCCGAGGCCCCACGTGCCTTCTTGGCTTCCTGTGCTCCGTGGCGTCTTCGAGTCGGTGCTGCCGGGGACGCTGTGTGGATGGGGTCTGTGAGTGTGCCCTCGGCTCCGTGTCCGGAGCCCTGTGGTTCTTGGGGTGTATCTGGCCCCACCCCCACTGCGTGGTGTCCAGGGTGGGGCTTCACGGCTGCAGCTGCGGGAGCTGCTGCCCCTGCCTTGTGCTCCAGTGGGGCCTTGCCTCTGGGCTTGGTTCGTCCCTCTCTGGAACATTCTTTCTCAGCTGCTGTCCGACCCATGGTGGCATGACGTGGCCCTGGCTGAAGCAGCCCTTGTGCGGTTGCTGTGGTTGGGTCTGCCTGGCCGAGCCGGAAGGGAAGGGCTGGGAGGGCGTCAGGGTGGCGTGGCTTGACCCCCGCTCGGTGATGGTCCTGCAGCAAGGCCTCTCCCAGCAGGAAGCGTCCATCCCGGGGGGAGGCCGGCGCCCCTCACGCAGTTGGGGTTGCGGGAGGCAGTGCGTGCCTGAGGCAGCCGGTGCACAGATTCCAAGGGCCTGGAATCTGTTTGTTCCATTGACCTCTGATGTCACTTGACTTCTCAGAAGCAGCCACTCCCTGCACTGGGCGTTTGTAGGAAATGAGCTCCTGGAGGAGGGGGTGGGGAAGTTCCCCCATTGCAGGGCACACTCAGCCCCAGGAAGGAAACGTGCCTCGTCCCTGCTGACTCCGAATCGCAGTCAGAGTCGTTCTGCTTGTGCCGTGTTGAATTCCCGGCATCCGGCATCCAGACTCAGCCTCCTCCCCAGGCCACGGCCGCCGTGGCCAGTCGGTCAAGCCCTTCTAGGAACTTCCTTTGAGCTGGCGCCCTTGTTCACTGCTGACGCCACTCAGAGGCTTGTGCACGTGTCCTGCTTCCAGGCAGAGCTGGGAACTCGCACCCCGTCTTCTGCACGCGGCCGTGGAATGTCGGGATGCCGGCGCTTCCTTCCCGTGTGCTCTTGGCGGGGTGGGCTTCTTGCCCTGAGCCGCATGTCACAGTTTCTGCAGAAGTTTAGGGTTGGAGTGGGCTGACCTCTCTGCAGGTGTCCCCAGCCTCTGCCTGGGGTCTGCCTCCTACTCCCAGGACCCCCTGTCCCCCAGAGGGGCCCCAAGCTGGCAGGCTCACACTCAGGGCAGCCTCCTTTGTTCTGACTTCTGCACAGTGGGCCTGGGTGGCTGCCCGCGGCTCGCTTGCTTGATGCCAGTGGGTGGAGAGGGTGATGGGCAGAGAGGCAGGTGGTCAGGCCCCCAGTCCCGTCCTCACACTCTGTGCCCTCTGCCGCCCCCCGCCCCACAGGGAAGGTGCTGAGCTACTGGTGCTTCAGTCCCGGCCACAGCATGCACGAGCTGGTCCGCCAGGGCGTCCGCTCCCTCATCCTTACCAGCGGCACGCTGGCCCCGGTGTCCTCCTTTGCTCTGGAGATGCAGATGTACGGGCCACCCCTGCCAGGGCCTGAGCACCGGTGACACCTCTGACATCAGCGGGGTGGAAGTGGTGGGGGTCCCCATGAGCCGGGTGCTGGGGGTCTCGGGCCTCGAGGGCTAAAGGGGTGCTGGTGCACTTCCCCACTGTCTGCTCCCTCTGGCCACGCTCAGCCCTTTCCCAGTCTGCCTGGAGAACCCACACATCATCGACAAGCACCAGATCTGGGTGGGGGTCGTCCCCAGAGGCCCCGATGGAGCCCAGTTGAGCTCCGCGTTTGACAGACGGTGAGGGCCTGTCCCTGGGCCCTGCTGGGGTGGGAGGTGGGGGAGCACTGAGGCCTGAGGTCCTGAGCAGTGGCCTCTCCGGCTCTAGGTTTTCCGAGGAGTGCTTATCCTCCCTGGGGAAGGCTCTGGGTGAGTGCCCTGAATGCCCCAGCTGTGCCCATCCTGGATCCTGGACCCCTGCTCCCAAGAGCTGGTAGGGAACCCTGCAGACATCCTGCCCCTGCCTTGACCCCGGCCCCTGCACTTCCAGGCAACATCGCCCGCGTGGTGCCCTATGGGCTCCTGATCTTCTTCCCTTCCTATCCTGTCATGGAGAAGAGCCTGGAGTTCTGGCGGGTGCGTCTCCCCTGTGTTCTGGGCGGGGTGGGTGAGGGCAGGGCTGGAGCATGAAGCAGGCAGTGGTCACAGCTCCTGCTTGCCCTCATCGGATCGGCGGCGTGACCAGGGCTGCCGTGTCCCTGCCTCTTCCTCCCACAGGCCCGCGACTTGGCCAGGAAGATGGAGGCGCTGAAGCCGCTGTTTGTGGAGCCCAGGAGCAAAGGCAGCTTCTCCGAGGTCGGCACTTGGCCGGGGCTCTGGGCCTGCTGCCCCCTCGTGCCTCCCCTGCCTCTCACAGCTTCCCCAAGGCTGACCACTGGCCCTGACCATGGGCTCCGGCGGCTCCCGCTGCCTCTTCAGGGCTCCTGCGTTTCCTTCCTGGCCCTGAGTGTTGCCTCTTATCTTACAAAGCCCCCAGCACCGGGTGGGTGTGGTAACAGTGGCCCTCCTGTCTGAGTAGCCCTAGTCGGCCACCCTGGCCCTGGGGTTCCCCGTGTTTTCTGGGAAGCACTGAGCAGGCGTGGGGTCAGCCTGGGATCCGTGCCAGGAAGAAGCTTCCAGAACCCGATTGGCCTTCCTGGCTAGGACGATCCTTCATCTTGGAGCATGAGACCTGGGTCTCCCTCATGGGGGAGGAAGGGGCTGGGGGGGGGCTCCAGGCTCAGCCTCACCAACTTTCCTTCCAGACCATCAGTGCTTACTATGCAAGGGTTGCCGCCCCTGGGTCCACCGGCGCCACCTTCCTGGCGGTCTGCCGGGGCAAGGTGAGCTCTCCAGGGCCCTCTGCCCTGACCTGGTTGCCTGTTCCCTGGTGGGTGCTTATGGCTCCCCAGCAGACTCTGGGCCCTGGGGGCTGCCCGGTCCCCTCCTTGGGTCCCACGAGAGCGACTGCTGGCCCTGCTGGGAGCGTGTCCTGCTCTGGGCCTGGGCAGGCAGGATGGGAGTTTCCTGGCCACAAGAGTTGGAGGTGGCGTCTGGGAGCTGTGGACCCCAAGTGGGGTCCTGACCCACAGATGGAGCTTCCTCCCACCCCTGGTTGGGGACGGAGCCTCGGGGAAGGTGGCTGGGCTGGGTGTGGGCACCAGGGAGAGGAGCCCCCACGGCCCCAGGCAGCTCCCTGGTGTGTCCCCTAGGCCAGCGAGGGGCTGGACTTCTCAGACACGAATGGCCGTGGTGTGATTGTCACGGGCCTCCCGTACCCCCCACGCATGGACCCCCGGGTTGTCCTCAAGATGCAGTTCCTGGATGAGATGAAGGGCCAGGGTGGGGCTGGGGGCCAGGTGAGTTACAGCAGGGTGGGGCT
|
GGGGGCCTTACAGTCCTATAAGGTAGGGGCCACCTCCAGGAGGCAGGTGGAGGGCAGCCCTTGTTCCCCGGCAGGGCTGGGGGCCTTACAGTCCTATAAGGTGGGGGCCACCTCCAGGAGGCAGGTGGGGCTGGGGGTCTTCTGGTCCTAAAAGGTAAGGGGCTGCCCCCAGGACATGGGCGGGGCCTCCACACTCCTGGTCCTGTCCCCTCCAGGTGCACATCCATCCTGATGCTGGTCACCGGAGGACGGCTCAGCGGTCTGATGCCTGGAGCACCACTGCAGCCAGAAAGCGAGGTACAGACCTGGGCCCACACGCTCCCCGCCCGCCCGGGTGCAGTGCCCGGCACCACCATGCCACAGGCTAGGCACATGCCCAGCCGTGGATCTCCTGCCCCCATGGGCCTGGCCACCTTCTCCATATCCAGGCCAATCCAGAGCATTCTCCTCACTGTCCCTCTGAAGATTGGAGTTACTGAGAGACGTAGGAGATGGCCTGATGGCACCGTGACCTGCCCAGAGTCACCTGGTTGGTGGTGGCAGAGCCACAGCCCAGCCAGGCCTCCCTGCTGGGACACGCTCGTTTATGCCGAGGCCGTCAGCACAGAGCCTCCACAGTGAGGCACGGCTCTGCCTGCTGCCTCCACGCAGCGCCTGGCCGGGCCAAGCCTCAGGGTCACATCTGAAGGGGGCCCGGCTGGCCCTGTTGTCCGAAGCCCCTGGTGCGCTCAGCCCCGAGGCCCCACGTGCCTTCTTGGCTTCCTGTGCTCCGTGGCGTCTTCGAGTCGGTGCTGCCGGGGACGCTGTGTGGATGGGGTCTGTGAGTGTGCCCTCGGCTCCGTGTCCGGAGCCCTGTGGTTCTTGGGGTGTATCTGGCCCCACCCCCACTGCGTGGTGTCCAGGGTGGGGCTTCACGGCTGCAGCTGCGGGAGCTGCTGCCCCTGCCTTGTGCTCCAGTGGGGCCTTGCCTCTGGGCTTGGTTCGTCCCTCTCTGGAACATTCTTTCTCAGCTGCTGTCCGACCCATGGTGGCATGACGTGGCCCTGGCTGAAGCAGCCCTTGTGCGGTTGCTGTGGTTGGGTCTGCCTGGCCGAGCCGGAAGGGAAGGGCTGGGAGGGCGTCAGGGTGGCGTGGCTTGACCCCCGCTCGGTGATGGTCCTGCAGCAAGGCCTCTCCCAGCAGGAAGCGTCCATCCCGGGGGGAGGCCGGCGCCCCTCACGCAGTTGGGGTTGCGGGAGGCAGTGCGTGCCTGAGGCAGCCGGTGCACAGATTCCAAGGGCCTGGAATCTGTTTGTTCCATTGACCTCTGATGTCACTTGACTTCTCAGAAGCAGCCACTCCCTGCACTGGGCGTTTGTAGGAAATGAGCTCCTGGAGGAGGGGGTGGGGAAGTTCCCCCATTGCAGGGCACACTCAGCCCCAGGAAGGAAACGTGCCTCGTCCCTGCTGACTCCGAATCGCAGTCAGAGTCGTTCTGCTTGTGCCGTGTTGAATTCCCGGCATCCGGCATCCAGACTCAGCCTCCTCCCCAGGCCACGGCCGCCGTGGCCAGTCGGTCAAGCCCTTCTAGGAACTTCCTTTGAGCTGGCGCCCTTGTTCACTGCTGACGCCACTCAGAGGCTTGTGCACGTGTCCTGCTTCCAGGCAGAGCTGGGAACTCGCACCCCGTCTTCTGCACGCGGCCGTGGAATGTCGGGATGCCGGCGCTTCCTTCCCGTGTGCTCTTGGCGGGGTGGGCTTCTTGCCCTGAGCCGCATGTCACAGTTTCTGCAGAAGTTTAGGGTTGGAGTGGGCTGACCTCTCTGCAGGTGTCCCCAGCCTCTGCCTGGGGTCTGCCTCCTACTCCCAGGACCCCCTGTCCCCCAGAGGGGCCCCAAGCTGGCAGGCTCACACTCAGGGCAGCCTCCTTTGTTCTGACTTCTGCACAGTGGGCCTGGGTGGCTGCCCGCGGCTCGCTTGCTTGATGCCAGTGGGTGGAGAGGGTGATGGGCAGAGAGGCAGGTGGTCAGGCCCCCAGTCCCGTCCTCACACTCTGTGCCCTCTGCCGCTTCCCGCCCCACAGGGAAGGTGCTGAGCTACTGGTGCTTCAGTCCCGGCCACAGCATGCACGAGCTGGTCCGCCAGGGCGTCCGCTCCCTCATCCTTACCAGCGGCACGCTGGCCCCGGTGTCCTCCTTTGCTCTGGAGATGCAGATGTACGGGCCACCCCTGCCAGGGCCTGAGCACCGGTGACACCTCTGACATCAGCGGGGTGGAAGTGGTGGGGGTCCCCATGAGCCGGGTGCTGGGGGTCTCGGGCCTCGAGGGCTAAAGGGGTGCTGGTGCACTTCCCCACTGTCTGCTCCCTCTGGCCACGCTCAGCCCTTTCCCAGTCTGCCTGGAGAACCCACACATCATCGACAAGCACCAGATCTGGGTGGGGGTCGTCCCCAGAGGCCCCGATGGAGCCCAGTTGAGCTCCGCGTTTGACAGACGGTGAGGGCCTGTCCCTGGGCCCTGCTGGGGTGGGAGGTGGGGGAGCACTGAGGCCTGAGGTCCTGAGCAGTGGCCTCTCCGGCTCTAGGTTTTCCGAGGAGTGCTTATCCTCCCTGGGGAAGGCTCTGGGTGAGTGCCCTGAATGCCCCAGCTGTGCCCATCCTGGATCCTGGACCCCTGCTCCCAAGAGCTGGTAGGGAACCCTGCAGACATCCTGCCCCTGCCTTGACCCCGGCCCCTGCACTTCCAGGCAACATCGCCCGCGTGGTGCCCTATGGGCTCCTGATCTTCTTCCCTTCCTATCCTGTCATGGAGAAGAGCCTGGAGTTCTGGCGGGTGCGTCTCCCCTGTGTTCTGGGCGGGGTGGGTGAGGGCAGGGCTGGAGCATGAAGCAGGCAGTGGTCACAGCTCCTGCTTGCCCTCATCGGATCGGCGGCGTGACCAGGGCTGCCGTGTCCCTGCCTCTTCCTCCCACAGGCCCGCGACTTGGCCAGGAAGATGGAGGCGCTGAAGCCGCTGTTTGTGGAGCCCAGGAGCAAAGGCAGCTTCTCCGAGGTCGGCACTTGGCCGGGGCTCTGGGCCTGCTGCCCCCTCGTGCCTCCCCTGCCTCTCACAGCTTCCCCAAGGCTGACCACTGGCCCTGACCATGGGCTCCGGCGGCTCCCGCTGCCTCTTCAGGGCTCCTGCGTTTCCTTCCTGGCCCTGAGTGTTGCCTCTTATCTTACAAAGCCCCCAGCACCGGGTGGGTGTGGTAACAGTGGCCCTCCTGTCTGAGTAGCCCTAGTCGGCCACCCTGGCCCTGGGGTTCCCCGTGTTTTCTGGGAAGCACTGAGCAGGCGTGGGGTCAGCCTGGGATCCGTGCCAGGAAGAAGCTTCCAGAACCCGATTGGCCTTCCTGGCTAGGACGATCCTTCATCTTGGAGCATGAGACCTGGGTCTCCCTCATGGGGGAGGAAGGGGCTGGGGGGGGGCTCCAGGCTCAGCCTCACCAACTTTCCTTCCAGACCATCAGTGCTTACTATGCAAGGGTTGCCGCCCCTGGGTCCACCGGCGCCACCTTCCTGGCGGTCTGCCGGGGCAAGGTGAGCTCTCCAGGGCCCTCTGCCCTGACCTGGTTGCCTGTTCCCTGGTGGGTGCTTATGGCTCCCCAGCAGACTCTGGGCCCTGGGGGCTGCCCGGTCCCCTCCTTGGGTCCCACGAGAGCGACTGCTGGCCCTGCTGGGAGCGTGTCCTGCTCTGGGCCTGGGCAGGCAGGATGGGAGTTTCCTGGCCACAAGAGTTGGAGGTGGCGTCTGGGAGCTGTGGACCCCAAGTGGGGTCCTGACCCACAGATGGAGCTTCCTCCCACCCCTGGTTGGGGACGGAGCCTCGGGGAAGGTGGCTGGGCTGGGTGTGGGCACCAGGGAGAGGAGCCCCCACGGCCCCAGGCAGCTCCCTGGTGTGTCCCCTAGGCCAGCGAGGGGCTGGACTTCTCAGACACGAATGGCCGTGGTGTGATTGTCACGGGCCTCCCGTACCCCCCACGCATGGACCCCCGGGTTGTCCTCAAGATGCAGTTCCTGGATGAGATGAAGGGCCAGGGTGGGGCTGGGGGCCAGGTGAGTTACAGCAGGGTGGGGCT
|
benign
| 316,684 |
Is the variant located on chromosome 20 at position 63687745, gene RTEL1, benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3']
|
CAGGTGGGGCTGGGGGTCTTCTGGTCCTAAAAGGTAAGGGGCTGCCCCCAGGACATGGGCGGGGCCTCCACACTCCTGGTCCTGTCCCCTCCAGGTGCACATCCATCCTGATGCTGGTCACCGGAGGACGGCTCAGCGGTCTGATGCCTGGAGCACCACTGCAGCCAGAAAGCGAGGTACAGACCTGGGCCCACACGCTCCCCGCCCGCCCGGGTGCAGTGCCCGGCACCACCATGCCACAGGCTAGGCACATGCCCAGCCGTGGATCTCCTGCCCCCATGGGCCTGGCCACCTTCTCCATATCCAGGCCAATCCAGAGCATTCTCCTCACTGTCCCTCTGAAGATTGGAGTTACTGAGAGACGTAGGAGATGGCCTGATGGCACCGTGACCTGCCCAGAGTCACCTGGTTGGTGGTGGCAGAGCCACAGCCCAGCCAGGCCTCCCTGCTGGGACACGCTCGTTTATGCCGAGGCCGTCAGCACAGAGCCTCCACAGTGAGGCACGGCTCTGCCTGCTGCCTCCACGCAGCGCCTGGCCGGGCCAAGCCTCAGGGTCACATCTGAAGGGGGCCCGGCTGGCCCTGTTGTCCGAAGCCCCTGGTGCGCTCAGCCCCGAGGCCCCACGTGCCTTCTTGGCTTCCTGTGCTCCGTGGCGTCTTCGAGTCGGTGCTGCCGGGGACGCTGTGTGGATGGGGTCTGTGAGTGTGCCCTCGGCTCCGTGTCCGGAGCCCTGTGGTTCTTGGGGTGTATCTGGCCCCACCCCCACTGCGTGGTGTCCAGGGTGGGGCTTCACGGCTGCAGCTGCGGGAGCTGCTGCCCCTGCCTTGTGCTCCAGTGGGGCCTTGCCTCTGGGCTTGGTTCGTCCCTCTCTGGAACATTCTTTCTCAGCTGCTGTCCGACCCATGGTGGCATGACGTGGCCCTGGCTGAAGCAGCCCTTGTGCGGTTGCTGTGGTTGGGTCTGCCTGGCCGAGCCGGAAGGGAAGGGCTGGGAGGGCGTCAGGGTGGCGTGGCTTGACCCCCGCTCGGTGATGGTCCTGCAGCAAGGCCTCTCCCAGCAGGAAGCGTCCATCCCGGGGGGAGGCCGGCGCCCCTCACGCAGTTGGGGTTGCGGGAGGCAGTGCGTGCCTGAGGCAGCCGGTGCACAGATTCCAAGGGCCTGGAATCTGTTTGTTCCATTGACCTCTGATGTCACTTGACTTCTCAGAAGCAGCCACTCCCTGCACTGGGCGTTTGTAGGAAATGAGCTCCTGGAGGAGGGGGTGGGGAAGTTCCCCCATTGCAGGGCACACTCAGCCCCAGGAAGGAAACGTGCCTCGTCCCTGCTGACTCCGAATCGCAGTCAGAGTCGTTCTGCTTGTGCCGTGTTGAATTCCCGGCATCCGGCATCCAGACTCAGCCTCCTCCCCAGGCCACGGCCGCCGTGGCCAGTCGGTCAAGCCCTTCTAGGAACTTCCTTTGAGCTGGCGCCCTTGTTCACTGCTGACGCCACTCAGAGGCTTGTGCACGTGTCCTGCTTCCAGGCAGAGCTGGGAACTCGCACCCCGTCTTCTGCACGCGGCCGTGGAATGTCGGGATGCCGGCGCTTCCTTCCCGTGTGCTCTTGGCGGGGTGGGCTTCTTGCCCTGAGCCGCATGTCACAGTTTCTGCAGAAGTTTAGGGTTGGAGTGGGCTGACCTCTCTGCAGGTGTCCCCAGCCTCTGCCTGGGGTCTGCCTCCTACTCCCAGGACCCCCTGTCCCCCAGAGGGGCCCCAAGCTGGCAGGCTCACACTCAGGGCAGCCTCCTTTGTTCTGACTTCTGCACAGTGGGCCTGGGTGGCTGCCCGCGGCTCGCTTGCTTGATGCCAGTGGGTGGAGAGGGTGATGGGCAGAGAGGCAGGTGGTCAGGCCCCCAGTCCCGTCCTCACACTCTGTGCCCTCTGCCGCCCCCCGCCCCACAGGGAAGGTGCTGAGCTACTGGTGCTTCAGTCCCGGCCACAGCATGCACGAGCTGGTCCGCCAGGGCGTCCGCTCCCTCATCCTTACCAGCGGCACGCTGGCCCCGGTGTCCTCCTTTGCTCTGGAGATGCAGATGTACGGGCCACCCCTGCCAGGGCCTGAGCACCGGTGACACCTCTGACATCAGCGGGGTGGAAGTGGTGGGGGTCCCCATGAGCCGGGTGCTGGGGGTCTCGGGCCTCGAGGGCTAAAGGGGTGCTGGTGCACTTCCCCACTGTCTGCTCCCTCTGGCCACGCTCAGCCCTTTCCCAGTCTGCCTGGAGAACCCACACATCATCGACAAGCACCAGATCTGGGTGGGGGTCGTCCCCAGAGGCCCCGATGGAGCCCAGTTGAGCTCCGCGTTTGACAGACGGTGAGGGCCTGTCCCTGGGCCCTGCTGGGGTGGGAGGTGGGGGAGCACTGAGGCCTGAGGTCCTGAGCAGTGGCCTCTCCGGCTCTAGGTTTTCCGAGGAGTGCTTATCCTCCCTGGGGAAGGCTCTGGGTGAGTGCCCTGAATGCCCCAGCTGTGCCCATCCTGGATCCTGGACCCCTGCTCCCAAGAGCTGGTAGGGAACCCTGCAGACATCCTGCCCCTGCCTTGACCCCGGCCCCTGCACTTCCAGGCAACATCGCCCGCGTGGTGCCCTATGGGCTCCTGATCTTCTTCCCTTCCTATCCTGTCATGGAGAAGAGCCTGGAGTTCTGGCGGGTGCGTCTCCCCTGTGTTCTGGGCGGGGTGGGTGAGGGCAGGGCTGGAGCATGAAGCAGGCAGTGGTCACAGCTCCTGCTTGCCCTCATCGGATCGGCGGCGTGACCAGGGCTGCCGTGTCCCTGCCTCTTCCTCCCACAGGCCCGCGACTTGGCCAGGAAGATGGAGGCGCTGAAGCCGCTGTTTGTGGAGCCCAGGAGCAAAGGCAGCTTCTCCGAGGTCGGCACTTGGCCGGGGCTCTGGGCCTGCTGCCCCCTCGTGCCTCCCCTGCCTCTCACAGCTTCCCCAAGGCTGACCACTGGCCCTGACCATGGGCTCCGGCGGCTCCCGCTGCCTCTTCAGGGCTCCTGCGTTTCCTTCCTGGCCCTGAGTGTTGCCTCTTATCTTACAAAGCCCCCAGCACCGGGTGGGTGTGGTAACAGTGGCCCTCCTGTCTGAGTAGCCCTAGTCGGCCACCCTGGCCCTGGGGTTCCCCGTGTTTTCTGGGAAGCACTGAGCAGGCGTGGGGTCAGCCTGGGATCCGTGCCAGGAAGAAGCTTCCAGAACCCGATTGGCCTTCCTGGCTAGGACGATCCTTCATCTTGGAGCATGAGACCTGGGTCTCCCTCATGGGGGAGGAAGGGGCTGGGGGGGGGCTCCAGGCTCAGCCTCACCAACTTTCCTTCCAGACCATCAGTGCTTACTATGCAAGGGTTGCCGCCCCTGGGTCCACCGGCGCCACCTTCCTGGCGGTCTGCCGGGGCAAGGTGAGCTCTCCAGGGCCCTCTGCCCTGACCTGGTTGCCTGTTCCCTGGTGGGTGCTTATGGCTCCCCAGCAGACTCTGGGCCCTGGGGGCTGCCCGGTCCCCTCCTTGGGTCCCACGAGAGCGACTGCTGGCCCTGCTGGGAGCGTGTCCTGCTCTGGGCCTGGGCAGGCAGGATGGGAGTTTCCTGGCCACAAGAGTTGGAGGTGGCGTCTGGGAGCTGTGGACCCCAAGTGGGGTCCTGACCCACAGATGGAGCTTCCTCCCACCCCTGGTTGGGGACGGAGCCTCGGGGAAGGTGGCTGGGCTGGGTGTGGGCACCAGGGAGAGGAGCCCCCACGGCCCCAGGCAGCTCCCTGGTGTGTCCCCTAGGCCAGCGAGGGGCTGGACTTCTCAGACACGAATGGCCGTGGTGTGATTGTCACGGGCCTCCCGTACCCCCCACGCATGGACCCCCGGGTTGTCCTCAAGATGCAGTTCCTGGATGAGATGAAGGGCCAGGGTGGGGCTGGGGGCCAGGTGAGTTACAGCAGGGTGGGGCTGGGGTAAGGCGGTCTGGTGACTGAGCCCCCGCCCCGTGGCCAAGGGAGCCCCCGTGACCGAGCCGCCTCGCCCCACAGTTCCTCTCTGGGCAGGAGTGGTACCGGCAGCAGGCGTCCAGGG
|
CAGGTGGGGCTGGGGGTCTTCTGGTCCTAAAAGGTAAGGGGCTGCCCCCAGGACATGGGCGGGGCCTCCACACTCCTGGTCCTGTCCCCTCCAGGTGCACATCCATCCTGATGCTGGTCACCGGAGGACGGCTCAGCGGTCTGATGCCTGGAGCACCACTGCAGCCAGAAAGCGAGGTACAGACCTGGGCCCACACGCTCCCCGCCCGCCCGGGTGCAGTGCCCGGCACCACCATGCCACAGGCTAGGCACATGCCCAGCCGTGGATCTCCTGCCCCCATGGGCCTGGCCACCTTCTCCATATCCAGGCCAATCCAGAGCATTCTCCTCACTGTCCCTCTGAAGATTGGAGTTACTGAGAGACGTAGGAGATGGCCTGATGGCACCGTGACCTGCCCAGAGTCACCTGGTTGGTGGTGGCAGAGCCACAGCCCAGCCAGGCCTCCCTGCTGGGACACGCTCGTTTATGCCGAGGCCGTCAGCACAGAGCCTCCACAGTGAGGCACGGCTCTGCCTGCTGCCTCCACGCAGCGCCTGGCCGGGCCAAGCCTCAGGGTCACATCTGAAGGGGGCCCGGCTGGCCCTGTTGTCCGAAGCCCCTGGTGCGCTCAGCCCCGAGGCCCCACGTGCCTTCTTGGCTTCCTGTGCTCCGTGGCGTCTTCGAGTCGGTGCTGCCGGGGACGCTGTGTGGATGGGGTCTGTGAGTGTGCCCTCGGCTCCGTGTCCGGAGCCCTGTGGTTCTTGGGGTGTATCTGGCCCCACCCCCACTGCGTGGTGTCCAGGGTGGGGCTTCACGGCTGCAGCTGCGGGAGCTGCTGCCCCTGCCTTGTGCTCCAGTGGGGCCTTGCCTCTGGGCTTGGTTCGTCCCTCTCTGGAACATTCTTTCTCAGCTGCTGTCCGACCCATGGTGGCATGACGTGGCCCTGGCTGAAGCAGCCCTTGTGCGGTTGCTGTGGTTGGGTCTGCCTGGCCGAGCCGGAAGGGAAGGGCTGGGAGGGCGTCAGGGTGGCGTGGCTTGACCCCCGCTCGGTGATGGTCCTGCAGCAAGGCCTCTCCCAGCAGGAAGCGTCCATCCCGGGGGGAGGCCGGCGCCCCTCACGCAGTTGGGGTTGCGGGAGGCAGTGCGTGCCTGAGGCAGCCGGTGCACAGATTCCAAGGGCCTGGAATCTGTTTGTTCCATTGACCTCTGATGTCACTTGACTTCTCAGAAGCAGCCACTCCCTGCACTGGGCGTTTGTAGGAAATGAGCTCCTGGAGGAGGGGGTGGGGAAGTTCCCCCATTGCAGGGCACACTCAGCCCCAGGAAGGAAACGTGCCTCGTCCCTGCTGACTCCGAATCGCAGTCAGAGTCGTTCTGCTTGTGCCGTGTTGAATTCCCGGCATCCGGCATCCAGACTCAGCCTCCTCCCCAGGCCACGGCCGCCGTGGCCAGTCGGTCAAGCCCTTCTAGGAACTTCCTTTGAGCTGGCGCCCTTGTTCACTGCTGACGCCACTCAGAGGCTTGTGCACGTGTCCTGCTTCCAGGCAGAGCTGGGAACTCGCACCCCGTCTTCTGCACGCGGCCGTGGAATGTCGGGATGCCGGCGCTTCCTTCCCGTGTGCTCTTGGCGGGGTGGGCTTCTTGCCCTGAGCCGCATGTCACAGTTTCTGCAGAAGTTTAGGGTTGGAGTGGGCTGACCTCTCTGCAGGTGTCCCCAGCCTCTGCCTGGGGTCTGCCTCCTACTCCCAGGACCCCCTGTCCCCCAGAGGGGCCCCAAGCTGGCAGGCTCACACTCAGGGCAGCCTCCTTTGTTCTGACTTCTGCACAGTGGGCCTGGGTGGCTGCCCGCGGCTCGCTTGCTTGATGCCAGTGGGTGGAGAGGGTGATGGGCAGAGAGGCAGGTGGTCAGGCCCCCAGTCCCGTCCTCACACTCTGTGCCCTCTGCCGCCCCCCGCCCCACAGGGAAGGTGCTGAGCTACTGGTGCTTCAGTCCCGGCCACAGCATGCACGAGCTGGTCCGCCAGGGCGTCCGCTCCCTCATCCTTACCAGCGGCACGCTGGCCCCGGTGTCTCCTTTGCTCTGGAGATGCAGATGTACGGGCCACCCCTGCCAGGGCCTGAGCACCGGTGACACCTCTGACATCAGCGGGGTGGAAGTGGTGGGGGTCCCCATGAGCCGGGTGCTGGGGGTCTCGGGCCTCGAGGGCTAAAGGGGTGCTGGTGCACTTCCCCACTGTCTGCTCCCTCTGGCCACGCTCAGCCCTTTCCCAGTCTGCCTGGAGAACCCACACATCATCGACAAGCACCAGATCTGGGTGGGGGTCGTCCCCAGAGGCCCCGATGGAGCCCAGTTGAGCTCCGCGTTTGACAGACGGTGAGGGCCTGTCCCTGGGCCCTGCTGGGGTGGGAGGTGGGGGAGCACTGAGGCCTGAGGTCCTGAGCAGTGGCCTCTCCGGCTCTAGGTTTTCCGAGGAGTGCTTATCCTCCCTGGGGAAGGCTCTGGGTGAGTGCCCTGAATGCCCCAGCTGTGCCCATCCTGGATCCTGGACCCCTGCTCCCAAGAGCTGGTAGGGAACCCTGCAGACATCCTGCCCCTGCCTTGACCCCGGCCCCTGCACTTCCAGGCAACATCGCCCGCGTGGTGCCCTATGGGCTCCTGATCTTCTTCCCTTCCTATCCTGTCATGGAGAAGAGCCTGGAGTTCTGGCGGGTGCGTCTCCCCTGTGTTCTGGGCGGGGTGGGTGAGGGCAGGGCTGGAGCATGAAGCAGGCAGTGGTCACAGCTCCTGCTTGCCCTCATCGGATCGGCGGCGTGACCAGGGCTGCCGTGTCCCTGCCTCTTCCTCCCACAGGCCCGCGACTTGGCCAGGAAGATGGAGGCGCTGAAGCCGCTGTTTGTGGAGCCCAGGAGCAAAGGCAGCTTCTCCGAGGTCGGCACTTGGCCGGGGCTCTGGGCCTGCTGCCCCCTCGTGCCTCCCCTGCCTCTCACAGCTTCCCCAAGGCTGACCACTGGCCCTGACCATGGGCTCCGGCGGCTCCCGCTGCCTCTTCAGGGCTCCTGCGTTTCCTTCCTGGCCCTGAGTGTTGCCTCTTATCTTACAAAGCCCCCAGCACCGGGTGGGTGTGGTAACAGTGGCCCTCCTGTCTGAGTAGCCCTAGTCGGCCACCCTGGCCCTGGGGTTCCCCGTGTTTTCTGGGAAGCACTGAGCAGGCGTGGGGTCAGCCTGGGATCCGTGCCAGGAAGAAGCTTCCAGAACCCGATTGGCCTTCCTGGCTAGGACGATCCTTCATCTTGGAGCATGAGACCTGGGTCTCCCTCATGGGGGAGGAAGGGGCTGGGGGGGGGCTCCAGGCTCAGCCTCACCAACTTTCCTTCCAGACCATCAGTGCTTACTATGCAAGGGTTGCCGCCCCTGGGTCCACCGGCGCCACCTTCCTGGCGGTCTGCCGGGGCAAGGTGAGCTCTCCAGGGCCCTCTGCCCTGACCTGGTTGCCTGTTCCCTGGTGGGTGCTTATGGCTCCCCAGCAGACTCTGGGCCCTGGGGGCTGCCCGGTCCCCTCCTTGGGTCCCACGAGAGCGACTGCTGGCCCTGCTGGGAGCGTGTCCTGCTCTGGGCCTGGGCAGGCAGGATGGGAGTTTCCTGGCCACAAGAGTTGGAGGTGGCGTCTGGGAGCTGTGGACCCCAAGTGGGGTCCTGACCCACAGATGGAGCTTCCTCCCACCCCTGGTTGGGGACGGAGCCTCGGGGAAGGTGGCTGGGCTGGGTGTGGGCACCAGGGAGAGGAGCCCCCACGGCCCCAGGCAGCTCCCTGGTGTGTCCCCTAGGCCAGCGAGGGGCTGGACTTCTCAGACACGAATGGCCGTGGTGTGATTGTCACGGGCCTCCCGTACCCCCCACGCATGGACCCCCGGGTTGTCCTCAAGATGCAGTTCCTGGATGAGATGAAGGGCCAGGGTGGGGCTGGGGGCCAGGTGAGTTACAGCAGGGTGGGGCTGGGGTAAGGCGGTCTGGTGACTGAGCCCCCGCCCCGTGGCCAAGGGAGCCCCCGTGACCGAGCCGCCTCGCCCCACAGTTCCTCTCTGGGCAGGAGTGGTACCGGCAGCAGGCGTCCAGGGN
|
pathogenic
| 316,697 |
Considering the variant on chromosome 20, location 63689581, involving gene RTEL1, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3']
|
TGCTTGATGCCAGTGGGTGGAGAGGGTGATGGGCAGAGAGGCAGGTGGTCAGGCCCCCAGTCCCGTCCTCACACTCTGTGCCCTCTGCCGCCCCCCGCCCCACAGGGAAGGTGCTGAGCTACTGGTGCTTCAGTCCCGGCCACAGCATGCACGAGCTGGTCCGCCAGGGCGTCCGCTCCCTCATCCTTACCAGCGGCACGCTGGCCCCGGTGTCCTCCTTTGCTCTGGAGATGCAGATGTACGGGCCACCCCTGCCAGGGCCTGAGCACCGGTGACACCTCTGACATCAGCGGGGTGGAAGTGGTGGGGGTCCCCATGAGCCGGGTGCTGGGGGTCTCGGGCCTCGAGGGCTAAAGGGGTGCTGGTGCACTTCCCCACTGTCTGCTCCCTCTGGCCACGCTCAGCCCTTTCCCAGTCTGCCTGGAGAACCCACACATCATCGACAAGCACCAGATCTGGGTGGGGGTCGTCCCCAGAGGCCCCGATGGAGCCCAGTTGAGCTCCGCGTTTGACAGACGGTGAGGGCCTGTCCCTGGGCCCTGCTGGGGTGGGAGGTGGGGGAGCACTGAGGCCTGAGGTCCTGAGCAGTGGCCTCTCCGGCTCTAGGTTTTCCGAGGAGTGCTTATCCTCCCTGGGGAAGGCTCTGGGTGAGTGCCCTGAATGCCCCAGCTGTGCCCATCCTGGATCCTGGACCCCTGCTCCCAAGAGCTGGTAGGGAACCCTGCAGACATCCTGCCCCTGCCTTGACCCCGGCCCCTGCACTTCCAGGCAACATCGCCCGCGTGGTGCCCTATGGGCTCCTGATCTTCTTCCCTTCCTATCCTGTCATGGAGAAGAGCCTGGAGTTCTGGCGGGTGCGTCTCCCCTGTGTTCTGGGCGGGGTGGGTGAGGGCAGGGCTGGAGCATGAAGCAGGCAGTGGTCACAGCTCCTGCTTGCCCTCATCGGATCGGCGGCGTGACCAGGGCTGCCGTGTCCCTGCCTCTTCCTCCCACAGGCCCGCGACTTGGCCAGGAAGATGGAGGCGCTGAAGCCGCTGTTTGTGGAGCCCAGGAGCAAAGGCAGCTTCTCCGAGGTCGGCACTTGGCCGGGGCTCTGGGCCTGCTGCCCCCTCGTGCCTCCCCTGCCTCTCACAGCTTCCCCAAGGCTGACCACTGGCCCTGACCATGGGCTCCGGCGGCTCCCGCTGCCTCTTCAGGGCTCCTGCGTTTCCTTCCTGGCCCTGAGTGTTGCCTCTTATCTTACAAAGCCCCCAGCACCGGGTGGGTGTGGTAACAGTGGCCCTCCTGTCTGAGTAGCCCTAGTCGGCCACCCTGGCCCTGGGGTTCCCCGTGTTTTCTGGGAAGCACTGAGCAGGCGTGGGGTCAGCCTGGGATCCGTGCCAGGAAGAAGCTTCCAGAACCCGATTGGCCTTCCTGGCTAGGACGATCCTTCATCTTGGAGCATGAGACCTGGGTCTCCCTCATGGGGGAGGAAGGGGCTGGGGGGGGGCTCCAGGCTCAGCCTCACCAACTTTCCTTCCAGACCATCAGTGCTTACTATGCAAGGGTTGCCGCCCCTGGGTCCACCGGCGCCACCTTCCTGGCGGTCTGCCGGGGCAAGGTGAGCTCTCCAGGGCCCTCTGCCCTGACCTGGTTGCCTGTTCCCTGGTGGGTGCTTATGGCTCCCCAGCAGACTCTGGGCCCTGGGGGCTGCCCGGTCCCCTCCTTGGGTCCCACGAGAGCGACTGCTGGCCCTGCTGGGAGCGTGTCCTGCTCTGGGCCTGGGCAGGCAGGATGGGAGTTTCCTGGCCACAAGAGTTGGAGGTGGCGTCTGGGAGCTGTGGACCCCAAGTGGGGTCCTGACCCACAGATGGAGCTTCCTCCCACCCCTGGTTGGGGACGGAGCCTCGGGGAAGGTGGCTGGGCTGGGTGTGGGCACCAGGGAGAGGAGCCCCCACGGCCCCAGGCAGCTCCCTGGTGTGTCCCCTAGGCCAGCGAGGGGCTGGACTTCTCAGACACGAATGGCCGTGGTGTGATTGTCACGGGCCTCCCGTACCCCCCACGCATGGACCCCCGGGTTGTCCTCAAGATGCAGTTCCTGGATGAGATGAAGGGCCAGGGTGGGGCTGGGGGCCAGGTGAGTTACAGCAGGGTGGGGCTGGGGTAAGGCGGTCTGGTGACTGAGCCCCCGCCCCGTGGCCAAGGGAGCCCCCGTGACCGAGCCGCCTCGCCCCACAGTTCCTCTCTGGGCAGGAGTGGTACCGGCAGCAGGCGTCCAGGGCTGTGAACCAGGCCATCGGGCGAGTGATCCGGCACCGCCAGGACTACGGAGCTGTCTTCCTCTGTGACCACAGGTGCGTGCAGTCCGGTGGCAGGCGCGGCGCCAGGGGACACGCCCACACCCCACTGGGCCCCTGGACTCTCCTTCCCCACATGAGGCCCCGTCTCCTCCAGAGCCTCTCCGGCTACTCGGGGTCAGCGTGGGGCCCCTGCAGCAGATGAGGGTCTTCACTTCGGTGAACTGAACCCTTGAAGCGGCTGTGGGCAGGGCAGCAGGGCTATGGCCACCCCCCAGGTTCGCCTTTGCCGACGCAAGAGCCCAACTGCCCTCCTGGGTGCGTCCCCACGTCAGGGTGTATGACAACTTTGGCCATGTCATCCGAGACGTGGCCCAGTTCTTCCGTGTTGCCGAGCGAACTGTGAGTTCCTGCCCAGGGAGGGGATGAGGGTGTTGTCCCCAGAGGAGCCAGAAATGGGTCCACCCACCCCCATGGTTCTGCAGATGCCAGCGCCGGCCCCCCGGGCTACAGCACCCAGTGTGCGTGGAGAAGATGCTGTCAGCGAGGCCAAGTCGCCTGGCCCCTTCTTCTCCACCAGGAAAGCTAAGAGTCTGGACCTGCATGTCCCCAGCCTGAAGCAGAGGTCCTCAGGTGCGGACGGGCAGCGCTGGGTGGGCGGTGTGGGGGTGGCGGAGCGGGCGGCGTGGGGCGGGCAGCACCAGGCGCCCAGGGCGGAGGCGACTCACCTGGCTTTGTGCGCTTCCCCTCCCACCTCCAAAGGCTGCCTCTCCCTCCTAGGGCAGGGCCCCCACGGGCTGCAACCCTCCCCTACAGGCAGAGAACGCCCCAGGCAAGGATGCCCCCCGAGGCTGAGACTCCCCCCAATAGCAGGGAGGACACCCACAGGCAGGACCCCAAGTGCTGGGACTCTCCCCCAAGAGGGGCTTTGCCACAGGCAGGGACCCCAGCTGGGGCCCCCCGTGGGCTTCACTGCGCACTCGGGTGCCCCTGCAGGGTCACCAGCTGCCGGGGACCCCGAGAGTAGCCTGTGTGTGGAGTATGAGCAGGAGCCAGTTCCTGCCCGGCAGAGGCCCAGGGGGCTGCTGGCCGCCCTGGAGCACAGCGAACAGCGGGCGGGGAGCCCTGGCGAGGAGCAGGTACAGTTCCAGGGCCTTGGGATGGACACAGACCCTCTGTCTCCTGAGGCCAACCCGACCCCGCCCATCTGGCCTCAGGCACCTCCCCACACACCCCTGTAAATCCCCTGCCTGGCAGGCAGGCGGGCAAGCGGGCGGGGGATCCCAGCTGCCTGGCTGTCTGTGGGTCCTCCACCCCACCTCACCCACAGGCTGCTGGCTCCCAGGTGGTGCATGCCCTGGCCCTCCGCGGGTGCCCCCCACATCACTTTGGTTCTCTGGCGGGTCAGCTTGGCTCAGTGCACTCAAGGTCGGGTGCCCCTGCCACTGGCTGCGCTTGAGGCTGGCCTTTCTCCAGGAATGTGCTGCGGGTGGAACCCAGGTTCCTTCTTCCTTGGGGCCTTTTGCCCCAGAAGCCCATAATTCCTCAGGCCAACCCGAAATTTTCTCCCTGCTTCCTGCTGGGAGCCATTCCCCTCTTCCTGCCCATCCCTGCCCTTCAGGCCCCTGGAGTGAGCTCCAGGTGCAGGCACCAGGCACCTGTGTCCCCTTCCTGCCAGCCCCTCGCTGTGGTCGGACTGTCTTCCCTGGACCTGCTCTTACAAGTCACCACCTGCGAGCCTCATGAGCCGCTGGTGTGACTTGGACAGGACCAAGTTGTGGCACTGTCACCGGGGTGTGCTGTGCCCCCCTCCCCCGACC
|
TGCTTGATGCCAGTGGGTGGAGAGGGTGATGGGCAGAGAGGCAGGTGGTCAGGCCCCCAGTCCCGTCCTCACACTCTGTGCCCTCTGCCGCCCCCCGCCCCACAGGGAAGGTGCTGAGCTACTGGTGCTTCAGTCCCGGCCACAGCATGCACGAGCTGGTCCGCCAGGGCGTCCGCTCCCTCATCCTTACCAGCGGCACGCTGGCCCCGGTGTCCTCCTTTGCTCTGGAGATGCAGATGTACGGGCCACCCCTGCCAGGGCCTGAGCACCGGTGACACCTCTGACATCAGCGGGGTGGAAGTGGTGGGGGTCCCCATGAGCCGGGTGCTGGGGGTCTCGGGCCTCGAGGGCTAAAGGGGTGCTGGTGCACTTCCCCACTGTCTGCTCCCTCTGGCCACGCTCAGCCCTTTCCCAGTCTGCCTGGAGAACCCACACATCATCGACAAGCACCAGATCTGGGTGGGGGTCGTCCCCAGAGGCCCCGATGGAGCCCAGTTGAGCTCCGCGTTTGACAGACGGTGAGGGCCTGTCCCTGGGCCCTGCTGGGGTGGGAGGTGGGGGAGCACTGAGGCCTGAGGTCCTGAGCAGTGGCCTCTCCGGCTCTAGGTTTTCCGAGGAGTGCTTATCCTCCCTGGGGAAGGCTCTGGGTGAGTGCCCTGAATGCCCCAGCTGTGCCCATCCTGGATCCTGGACCCCTGCTCCCAAGAGCTGGTAGGGAACCCTGCAGACATCCTGCCCCTGCCTTGACCCCGGCCCCTGCACTTCCAGGCAACATCGCCCGCGTGGTGCCCTATGGGCTCCTGATCTTCTTCCCTTCCTATCCTGTCATGGAGAAGAGCCTGGAGTTCTGGCGGGTGCGTCTCCCCTGTGTTCTGGGCGGGGTGGGTGAGGGCAGGGCTGGAGCATGAAGCAGGCAGTGGTCACAGCTCCTGCTTGCCCTCATCGGATCGGCGGCGTGACCAGGGCTGCCGTGTCCCTGCCTCTTCCTCCCACAGGCCCGCGACTTGGCCAGGAAGATGGAGGCGCTGAAGCCGCTGTTTGTGGAGCCCAGGAGCAAAGGCAGCTTCTCCGAGGTCGGCACTTGGCCGGGGCTCTGGGCCTGCTGCCCCCTCGTGCCTCCCCTGCCTCTCACAGCTTCCCCAAGGCTGACCACTGGCCCTGACCATGGGCTCCGGCGGCTCCCGCTGCCTCTTCAGGGCTCCTGCGTTTCCTTCCTGGCCCTGAGTGTTGCCTCTTATCTTACAAAGCCCCCAGCACCGGGTGGGTGTGGTAACAGTGGCCCTCCTGTCTGAGTAGCCCTAGTCGGCCACCCTGGCCCTGGGGTTCCCCGTGTTTTCTGGGAAGCACTGAGCAGGCGTGGGGTCAGCCTGGGATCCGTGCCAGGAAGAAGCTTCCAGAACCCGATTGGCCTTCCTGGCTAGGACGATCCTTCATCTTGGAGCATGAGACCTGGGTCTCCCTCATGGGGGAGGAAGGGGCTGGGGGGGGGCTCCAGGCTCAGCCTCACCAACTTTCCTTCCAGACCATCAGTGCTTACTATGCAAGGGTTGCCGCCCCTGGGTCCACCGGCGCCACCTTCCTGGCGGTCTGCCGGGGCAAGGTGAGCTCTCCAGGGCCCTCTGCCCTGACCTGGTTGCCTGTTCCCTGGTGGGTGCTTATGGCTCCCCAGCAGACTCTGGGCCCTGGGGGCTGCCCGGTCCCCTCCTTGGGTCCCACGAGAGCGACTGCTGGCCCTGCTGGGAGCGTGTCCTGCTCTGGGCCTGGGCAGGCAGGATGGGAGTTTCCTGGCCACAAGAGTTGGAGGTGGCGTCTGGGAGCTGTGGACCCCAAGTGGGGTCCTGACCCACAGATGGAGCTTCCTCCCACCCCTGGTTGGGGACGGAGCCTCGGGGAAGGTGGCTGGGCTGGGTGTGGGCACCAGGGAGAGGAGCCCCCACGGCCCCAGGCAGCTCCCTGGTGTGTCCCCTAGGCCAGCGAGGGGCTGGACTTCTCAGACACGAATGGCCGTGGTGTGATTGTCACGGGCCTCCCGTACCCCCCACGCATGGACCCCCCGGGTTGTCCTCAAGATGCAGTTCCTGGATGAGATGAAGGGCCAGGGTGGGGCTGGGGGCCAGGTGAGTTACAGCAGGGTGGGGCTGGGGTAAGGCGGTCTGGTGACTGAGCCCCCGCCCCGTGGCCAAGGGAGCCCCCGTGACCGAGCCGCCTCGCCCCACAGTTCCTCTCTGGGCAGGAGTGGTACCGGCAGCAGGCGTCCAGGGCTGTGAACCAGGCCATCGGGCGAGTGATCCGGCACCGCCAGGACTACGGAGCTGTCTTCCTCTGTGACCACAGGTGCGTGCAGTCCGGTGGCAGGCGCGGCGCCAGGGGACACGCCCACACCCCACTGGGCCCCTGGACTCTCCTTCCCCACATGAGGCCCCGTCTCCTCCAGAGCCTCTCCGGCTACTCGGGGTCAGCGTGGGGCCCCTGCAGCAGATGAGGGTCTTCACTTCGGTGAACTGAACCCTTGAAGCGGCTGTGGGCAGGGCAGCAGGGCTATGGCCACCCCCCAGGTTCGCCTTTGCCGACGCAAGAGCCCAACTGCCCTCCTGGGTGCGTCCCCACGTCAGGGTGTATGACAACTTTGGCCATGTCATCCGAGACGTGGCCCAGTTCTTCCGTGTTGCCGAGCGAACTGTGAGTTCCTGCCCAGGGAGGGGATGAGGGTGTTGTCCCCAGAGGAGCCAGAAATGGGTCCACCCACCCCCATGGTTCTGCAGATGCCAGCGCCGGCCCCCCGGGCTACAGCACCCAGTGTGCGTGGAGAAGATGCTGTCAGCGAGGCCAAGTCGCCTGGCCCCTTCTTCTCCACCAGGAAAGCTAAGAGTCTGGACCTGCATGTCCCCAGCCTGAAGCAGAGGTCCTCAGGTGCGGACGGGCAGCGCTGGGTGGGCGGTGTGGGGGTGGCGGAGCGGGCGGCGTGGGGCGGGCAGCACCAGGCGCCCAGGGCGGAGGCGACTCACCTGGCTTTGTGCGCTTCCCCTCCCACCTCCAAAGGCTGCCTCTCCCTCCTAGGGCAGGGCCCCCACGGGCTGCAACCCTCCCCTACAGGCAGAGAACGCCCCAGGCAAGGATGCCCCCCGAGGCTGAGACTCCCCCCAATAGCAGGGAGGACACCCACAGGCAGGACCCCAAGTGCTGGGACTCTCCCCCAAGAGGGGCTTTGCCACAGGCAGGGACCCCAGCTGGGGCCCCCCGTGGGCTTCACTGCGCACTCGGGTGCCCCTGCAGGGTCACCAGCTGCCGGGGACCCCGAGAGTAGCCTGTGTGTGGAGTATGAGCAGGAGCCAGTTCCTGCCCGGCAGAGGCCCAGGGGGCTGCTGGCCGCCCTGGAGCACAGCGAACAGCGGGCGGGGAGCCCTGGCGAGGAGCAGGTACAGTTCCAGGGCCTTGGGATGGACACAGACCCTCTGTCTCCTGAGGCCAACCCGACCCCGCCCATCTGGCCTCAGGCACCTCCCCACACACCCCTGTAAATCCCCTGCCTGGCAGGCAGGCGGGCAAGCGGGCGGGGGATCCCAGCTGCCTGGCTGTCTGTGGGTCCTCCACCCCACCTCACCCACAGGCTGCTGGCTCCCAGGTGGTGCATGCCCTGGCCCTCCGCGGGTGCCCCCCACATCACTTTGGTTCTCTGGCGGGTCAGCTTGGCTCAGTGCACTCAAGGTCGGGTGCCCCTGCCACTGGCTGCGCTTGAGGCTGGCCTTTCTCCAGGAATGTGCTGCGGGTGGAACCCAGGTTCCTTCTTCCTTGGGGCCTTTTGCCCCAGAAGCCCATAATTCCTCAGGCCAACCCGAAATTTTCTCCCTGCTTCCTGCTGGGAGCCATTCCCCTCTTCCTGCCCATCCCTGCCCTTCAGGCCCCTGGAGTGAGCTCCAGGTGCAGGCACCAGGCACCTGTGTCCCCTTCCTGCCAGCCCCTCGCTGTGGTCGGACTGTCTTCCCTGGACCTGCTCTTACAAGTCACCACCTGCGAGCCTCATGAGCCGCTGGTGTGACTTGGACAGGACCAAGTTGTGGCACTGTCACCGGGGTGTGCTGTGCCCCCCTCCCCCGAC
|
pathogenic
| 316,768 |
The chromosome 20, position 63690141 genetic variant in gene RTEL1: benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3']
|
GAGCACTGAGGCCTGAGGTCCTGAGCAGTGGCCTCTCCGGCTCTAGGTTTTCCGAGGAGTGCTTATCCTCCCTGGGGAAGGCTCTGGGTGAGTGCCCTGAATGCCCCAGCTGTGCCCATCCTGGATCCTGGACCCCTGCTCCCAAGAGCTGGTAGGGAACCCTGCAGACATCCTGCCCCTGCCTTGACCCCGGCCCCTGCACTTCCAGGCAACATCGCCCGCGTGGTGCCCTATGGGCTCCTGATCTTCTTCCCTTCCTATCCTGTCATGGAGAAGAGCCTGGAGTTCTGGCGGGTGCGTCTCCCCTGTGTTCTGGGCGGGGTGGGTGAGGGCAGGGCTGGAGCATGAAGCAGGCAGTGGTCACAGCTCCTGCTTGCCCTCATCGGATCGGCGGCGTGACCAGGGCTGCCGTGTCCCTGCCTCTTCCTCCCACAGGCCCGCGACTTGGCCAGGAAGATGGAGGCGCTGAAGCCGCTGTTTGTGGAGCCCAGGAGCAAAGGCAGCTTCTCCGAGGTCGGCACTTGGCCGGGGCTCTGGGCCTGCTGCCCCCTCGTGCCTCCCCTGCCTCTCACAGCTTCCCCAAGGCTGACCACTGGCCCTGACCATGGGCTCCGGCGGCTCCCGCTGCCTCTTCAGGGCTCCTGCGTTTCCTTCCTGGCCCTGAGTGTTGCCTCTTATCTTACAAAGCCCCCAGCACCGGGTGGGTGTGGTAACAGTGGCCCTCCTGTCTGAGTAGCCCTAGTCGGCCACCCTGGCCCTGGGGTTCCCCGTGTTTTCTGGGAAGCACTGAGCAGGCGTGGGGTCAGCCTGGGATCCGTGCCAGGAAGAAGCTTCCAGAACCCGATTGGCCTTCCTGGCTAGGACGATCCTTCATCTTGGAGCATGAGACCTGGGTCTCCCTCATGGGGGAGGAAGGGGCTGGGGGGGGGCTCCAGGCTCAGCCTCACCAACTTTCCTTCCAGACCATCAGTGCTTACTATGCAAGGGTTGCCGCCCCTGGGTCCACCGGCGCCACCTTCCTGGCGGTCTGCCGGGGCAAGGTGAGCTCTCCAGGGCCCTCTGCCCTGACCTGGTTGCCTGTTCCCTGGTGGGTGCTTATGGCTCCCCAGCAGACTCTGGGCCCTGGGGGCTGCCCGGTCCCCTCCTTGGGTCCCACGAGAGCGACTGCTGGCCCTGCTGGGAGCGTGTCCTGCTCTGGGCCTGGGCAGGCAGGATGGGAGTTTCCTGGCCACAAGAGTTGGAGGTGGCGTCTGGGAGCTGTGGACCCCAAGTGGGGTCCTGACCCACAGATGGAGCTTCCTCCCACCCCTGGTTGGGGACGGAGCCTCGGGGAAGGTGGCTGGGCTGGGTGTGGGCACCAGGGAGAGGAGCCCCCACGGCCCCAGGCAGCTCCCTGGTGTGTCCCCTAGGCCAGCGAGGGGCTGGACTTCTCAGACACGAATGGCCGTGGTGTGATTGTCACGGGCCTCCCGTACCCCCCACGCATGGACCCCCGGGTTGTCCTCAAGATGCAGTTCCTGGATGAGATGAAGGGCCAGGGTGGGGCTGGGGGCCAGGTGAGTTACAGCAGGGTGGGGCTGGGGTAAGGCGGTCTGGTGACTGAGCCCCCGCCCCGTGGCCAAGGGAGCCCCCGTGACCGAGCCGCCTCGCCCCACAGTTCCTCTCTGGGCAGGAGTGGTACCGGCAGCAGGCGTCCAGGGCTGTGAACCAGGCCATCGGGCGAGTGATCCGGCACCGCCAGGACTACGGAGCTGTCTTCCTCTGTGACCACAGGTGCGTGCAGTCCGGTGGCAGGCGCGGCGCCAGGGGACACGCCCACACCCCACTGGGCCCCTGGACTCTCCTTCCCCACATGAGGCCCCGTCTCCTCCAGAGCCTCTCCGGCTACTCGGGGTCAGCGTGGGGCCCCTGCAGCAGATGAGGGTCTTCACTTCGGTGAACTGAACCCTTGAAGCGGCTGTGGGCAGGGCAGCAGGGCTATGGCCACCCCCCAGGTTCGCCTTTGCCGACGCAAGAGCCCAACTGCCCTCCTGGGTGCGTCCCCACGTCAGGGTGTATGACAACTTTGGCCATGTCATCCGAGACGTGGCCCAGTTCTTCCGTGTTGCCGAGCGAACTGTGAGTTCCTGCCCAGGGAGGGGATGAGGGTGTTGTCCCCAGAGGAGCCAGAAATGGGTCCACCCACCCCCATGGTTCTGCAGATGCCAGCGCCGGCCCCCCGGGCTACAGCACCCAGTGTGCGTGGAGAAGATGCTGTCAGCGAGGCCAAGTCGCCTGGCCCCTTCTTCTCCACCAGGAAAGCTAAGAGTCTGGACCTGCATGTCCCCAGCCTGAAGCAGAGGTCCTCAGGTGCGGACGGGCAGCGCTGGGTGGGCGGTGTGGGGGTGGCGGAGCGGGCGGCGTGGGGCGGGCAGCACCAGGCGCCCAGGGCGGAGGCGACTCACCTGGCTTTGTGCGCTTCCCCTCCCACCTCCAAAGGCTGCCTCTCCCTCCTAGGGCAGGGCCCCCACGGGCTGCAACCCTCCCCTACAGGCAGAGAACGCCCCAGGCAAGGATGCCCCCCGAGGCTGAGACTCCCCCCAATAGCAGGGAGGACACCCACAGGCAGGACCCCAAGTGCTGGGACTCTCCCCCAAGAGGGGCTTTGCCACAGGCAGGGACCCCAGCTGGGGCCCCCCGTGGGCTTCACTGCGCACTCGGGTGCCCCTGCAGGGTCACCAGCTGCCGGGGACCCCGAGAGTAGCCTGTGTGTGGAGTATGAGCAGGAGCCAGTTCCTGCCCGGCAGAGGCCCAGGGGGCTGCTGGCCGCCCTGGAGCACAGCGAACAGCGGGCGGGGAGCCCTGGCGAGGAGCAGGTACAGTTCCAGGGCCTTGGGATGGACACAGACCCTCTGTCTCCTGAGGCCAACCCGACCCCGCCCATCTGGCCTCAGGCACCTCCCCACACACCCCTGTAAATCCCCTGCCTGGCAGGCAGGCGGGCAAGCGGGCGGGGGATCCCAGCTGCCTGGCTGTCTGTGGGTCCTCCACCCCACCTCACCCACAGGCTGCTGGCTCCCAGGTGGTGCATGCCCTGGCCCTCCGCGGGTGCCCCCCACATCACTTTGGTTCTCTGGCGGGTCAGCTTGGCTCAGTGCACTCAAGGTCGGGTGCCCCTGCCACTGGCTGCGCTTGAGGCTGGCCTTTCTCCAGGAATGTGCTGCGGGTGGAACCCAGGTTCCTTCTTCCTTGGGGCCTTTTGCCCCAGAAGCCCATAATTCCTCAGGCCAACCCGAAATTTTCTCCCTGCTTCCTGCTGGGAGCCATTCCCCTCTTCCTGCCCATCCCTGCCCTTCAGGCCCCTGGAGTGAGCTCCAGGTGCAGGCACCAGGCACCTGTGTCCCCTTCCTGCCAGCCCCTCGCTGTGGTCGGACTGTCTTCCCTGGACCTGCTCTTACAAGTCACCACCTGCGAGCCTCATGAGCCGCTGGTGTGACTTGGACAGGACCAAGTTGTGGCACTGTCACCGGGGTGTGCTGTGCCCCCCTCCCCCGACCTCCATCTTGGCTCAGGGCTCCTTGGGACCATCTTCCCTGTGCGTCCAGGTGCTTTGGGACCCCAGAGTGTGTGGTTGGGGTCTGTGTGTGGTTGTGAGCTGTGTCCTCCTCAGGCCCACAGCTGCTCCACCCTGTCCCTCCTGTCTGAGAAGAGGCCGGCAGAAGAACCGCGAGGAGGGAGGAAGAAGATCCGGCTGGTCAGCCACCCGGTGCGTGAGCTGTCCCTGCACCTGTGCCGACCACCATAGACACGCATGGGAACGCAGCCGTGGGTGCCCCCAGCCACGGCTGGTCCCGATGGGACCAGGGAATCCACCCCCAGGAGCTGATGTCCAGGGCAGCTGTGATGCTGACGGCCAGGGGCTCAAGTGTGTGGTTTCTTCTGCAGGGGGCTCATGAGTCCCAGCTGGAATCAGGCCCCACCCTTGGGCAGGTTTGGCATGGGGCCTGCAGCACTGGGCTTGGCCCTGGCATTTCCCTCAAGTGTGGATGCACACCTGCCTCATGTGAGGGACACAGCCCATTCCTAGCCTTGGATCAAAGAACGGAGTTATAGCCGG
|
GAGCACTGAGGCCTGAGGTCCTGAGCAGTGGCCTCTCCGGCTCTAGGTTTTCCGAGGAGTGCTTATCCTCCCTGGGGAAGGCTCTGGGTGAGTGCCCTGAATGCCCCAGCTGTGCCCATCCTGGATCCTGGACCCCTGCTCCCAAGAGCTGGTAGGGAACCCTGCAGACATCCTGCCCCTGCCTTGACCCCGGCCCCTGCACTTCCAGGCAACATCGCCCGCGTGGTGCCCTATGGGCTCCTGATCTTCTTCCCTTCCTATCCTGTCATGGAGAAGAGCCTGGAGTTCTGGCGGGTGCGTCTCCCCTGTGTTCTGGGCGGGGTGGGTGAGGGCAGGGCTGGAGCATGAAGCAGGCAGTGGTCACAGCTCCTGCTTGCCCTCATCGGATCGGCGGCGTGACCAGGGCTGCCGTGTCCCTGCCTCTTCCTCCCACAGGCCCGCGACTTGGCCAGGAAGATGGAGGCGCTGAAGCCGCTGTTTGTGGAGCCCAGGAGCAAAGGCAGCTTCTCCGAGGTCGGCACTTGGCCGGGGCTCTGGGCCTGCTGCCCCCTCGTGCCTCCCCTGCCTCTCACAGCTTCCCCAAGGCTGACCACTGGCCCTGACCATGGGCTCCGGCGGCTCCCGCTGCCTCTTCAGGGCTCCTGCGTTTCCTTCCTGGCCCTGAGTGTTGCCTCTTATCTTACAAAGCCCCCAGCACCGGGTGGGTGTGGTAACAGTGGCCCTCCTGTCTGAGTAGCCCTAGTCGGCCACCCTGGCCCTGGGGTTCCCCGTGTTTTCTGGGAAGCACTGAGCAGGCGTGGGGTCAGCCTGGGATCCGTGCCAGGAAGAAGCTTCCAGAACCCGATTGGCCTTCCTGGCTAGGACGATCCTTCATCTTGGAGCATGAGACCTGGGTCTCCCTCATGGGGGAGGAAGGGGCTGGGGGGGGGCTCCAGGCTCAGCCTCACCAACTTTCCTTCCAGACCATCAGTGCTTACTATGCAAGGGTTGCCGCCCCTGGGTCCACCGGCGCCACCTTCCTGGCGGTCTGCCGGGGCAAGGTGAGCTCTCCAGGGCCCTCTGCCCTGACCTGGTTGCCTGTTCCCTGGTGGGTGCTTATGGCTCCCCAGCAGACTCTGGGCCCTGGGGGCTGCCCGGTCCCCTCCTTGGGTCCCACGAGAGCGACTGCTGGCCCTGCTGGGAGCGTGTCCTGCTCTGGGCCTGGGCAGGCAGGATGGGAGTTTCCTGGCCACAAGAGTTGGAGGTGGCGTCTGGGAGCTGTGGACCCCAAGTGGGGTCCTGACCCACAGATGGAGCTTCCTCCCACCCCTGGTTGGGGACGGAGCCTCGGGGAAGGTGGCTGGGCTGGGTGTGGGCACCAGGGAGAGGAGCCCCCACGGCCCCAGGCAGCTCCCTGGTGTGTCCCCTAGGCCAGCGAGGGGCTGGACTTCTCAGACACGAATGGCCGTGGTGTGATTGTCACGGGCCTCCCGTACCCCCCACGCATGGACCCCCGGGTTGTCCTCAAGATGCAGTTCCTGGATGAGATGAAGGGCCAGGGTGGGGCTGGGGGCCAGGTGAGTTACAGCAGGGTGGGGCTGGGGTAAGGCGGTCTGGTGACTGAGCCCCCGCCCCGTGGCCAAGGGAGCCCCCGTGACCGAGCCGCCTCGCCCCACAGTTCCTCTCTGGGCAGGAGTGGTACCGGCAGCAGGCGTCCAGGGCTGTGAACCAGGCCATCGGGCGAGTGATCCGGCACCGCCAGGACTACGGAGCTGTCTTCCTCTGTGACCACAGGTGCGTGCAGTCCGGTGGCAGGCGCGGCGCCAGGGGACACGCCCACACCCCACTGGGCCCCTGGACTCTCCTTCCCCACATGAGGCCCCGTCTCCTCCAGAGCCTCTCCGGCTACTCGGGGTCAGCGTGGGGCCCCTGCAGCAGATGAGGGTCTTCACTTCGGTGAACTGAACCCTTGAAGCGGCTGTGGGCAGGGCAGCAGGGCTATGGCCACCCCCCAGGTTCGCCTTTGCCGACGCAAGAGCCCAACTGCCCTCCTGGGTGCGTCCCCACGTCGGTGTATGACAACTTTGGCCATGTCATCCGAGACGTGGCCCAGTTCTTCCGTGTTGCCGAGCGAACTGTGAGTTCCTGCCCAGGGAGGGGATGAGGGTGTTGTCCCCAGAGGAGCCAGAAATGGGTCCACCCACCCCCATGGTTCTGCAGATGCCAGCGCCGGCCCCCCGGGCTACAGCACCCAGTGTGCGTGGAGAAGATGCTGTCAGCGAGGCCAAGTCGCCTGGCCCCTTCTTCTCCACCAGGAAAGCTAAGAGTCTGGACCTGCATGTCCCCAGCCTGAAGCAGAGGTCCTCAGGTGCGGACGGGCAGCGCTGGGTGGGCGGTGTGGGGGTGGCGGAGCGGGCGGCGTGGGGCGGGCAGCACCAGGCGCCCAGGGCGGAGGCGACTCACCTGGCTTTGTGCGCTTCCCCTCCCACCTCCAAAGGCTGCCTCTCCCTCCTAGGGCAGGGCCCCCACGGGCTGCAACCCTCCCCTACAGGCAGAGAACGCCCCAGGCAAGGATGCCCCCCGAGGCTGAGACTCCCCCCAATAGCAGGGAGGACACCCACAGGCAGGACCCCAAGTGCTGGGACTCTCCCCCAAGAGGGGCTTTGCCACAGGCAGGGACCCCAGCTGGGGCCCCCCGTGGGCTTCACTGCGCACTCGGGTGCCCCTGCAGGGTCACCAGCTGCCGGGGACCCCGAGAGTAGCCTGTGTGTGGAGTATGAGCAGGAGCCAGTTCCTGCCCGGCAGAGGCCCAGGGGGCTGCTGGCCGCCCTGGAGCACAGCGAACAGCGGGCGGGGAGCCCTGGCGAGGAGCAGGTACAGTTCCAGGGCCTTGGGATGGACACAGACCCTCTGTCTCCTGAGGCCAACCCGACCCCGCCCATCTGGCCTCAGGCACCTCCCCACACACCCCTGTAAATCCCCTGCCTGGCAGGCAGGCGGGCAAGCGGGCGGGGGATCCCAGCTGCCTGGCTGTCTGTGGGTCCTCCACCCCACCTCACCCACAGGCTGCTGGCTCCCAGGTGGTGCATGCCCTGGCCCTCCGCGGGTGCCCCCCACATCACTTTGGTTCTCTGGCGGGTCAGCTTGGCTCAGTGCACTCAAGGTCGGGTGCCCCTGCCACTGGCTGCGCTTGAGGCTGGCCTTTCTCCAGGAATGTGCTGCGGGTGGAACCCAGGTTCCTTCTTCCTTGGGGCCTTTTGCCCCAGAAGCCCATAATTCCTCAGGCCAACCCGAAATTTTCTCCCTGCTTCCTGCTGGGAGCCATTCCCCTCTTCCTGCCCATCCCTGCCCTTCAGGCCCCTGGAGTGAGCTCCAGGTGCAGGCACCAGGCACCTGTGTCCCCTTCCTGCCAGCCCCTCGCTGTGGTCGGACTGTCTTCCCTGGACCTGCTCTTACAAGTCACCACCTGCGAGCCTCATGAGCCGCTGGTGTGACTTGGACAGGACCAAGTTGTGGCACTGTCACCGGGGTGTGCTGTGCCCCCCTCCCCCGACCTCCATCTTGGCTCAGGGCTCCTTGGGACCATCTTCCCTGTGCGTCCAGGTGCTTTGGGACCCCAGAGTGTGTGGTTGGGGTCTGTGTGTGGTTGTGAGCTGTGTCCTCCTCAGGCCCACAGCTGCTCCACCCTGTCCCTCCTGTCTGAGAAGAGGCCGGCAGAAGAACCGCGAGGAGGGAGGAAGAAGATCCGGCTGGTCAGCCACCCGGTGCGTGAGCTGTCCCTGCACCTGTGCCGACCACCATAGACACGCATGGGAACGCAGCCGTGGGTGCCCCCAGCCACGGCTGGTCCCGATGGGACCAGGGAATCCACCCCCAGGAGCTGATGTCCAGGGCAGCTGTGATGCTGACGGCCAGGGGCTCAAGTGTGTGGTTTCTTCTGCAGGGGGCTCATGAGTCCCAGCTGGAATCAGGCCCCACCCTTGGGCAGGTTTGGCATGGGGCCTGCAGCACTGGGCTTGGCCCTGGCATTTCCCTCAAGTGTGGATGCACACCTGCCTCATGTGAGGGACACAGCCCATTCCTAGCCTTGGATCAAAGAACGGAGTTATAGCCGGNN
|
pathogenic
| 316,795 |
Is the genetic change at chromosome 20, position 63690161, within gene RTEL1 benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Interstitial_lung_disease_2', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3']
|
CTGAGCAGTGGCCTCTCCGGCTCTAGGTTTTCCGAGGAGTGCTTATCCTCCCTGGGGAAGGCTCTGGGTGAGTGCCCTGAATGCCCCAGCTGTGCCCATCCTGGATCCTGGACCCCTGCTCCCAAGAGCTGGTAGGGAACCCTGCAGACATCCTGCCCCTGCCTTGACCCCGGCCCCTGCACTTCCAGGCAACATCGCCCGCGTGGTGCCCTATGGGCTCCTGATCTTCTTCCCTTCCTATCCTGTCATGGAGAAGAGCCTGGAGTTCTGGCGGGTGCGTCTCCCCTGTGTTCTGGGCGGGGTGGGTGAGGGCAGGGCTGGAGCATGAAGCAGGCAGTGGTCACAGCTCCTGCTTGCCCTCATCGGATCGGCGGCGTGACCAGGGCTGCCGTGTCCCTGCCTCTTCCTCCCACAGGCCCGCGACTTGGCCAGGAAGATGGAGGCGCTGAAGCCGCTGTTTGTGGAGCCCAGGAGCAAAGGCAGCTTCTCCGAGGTCGGCACTTGGCCGGGGCTCTGGGCCTGCTGCCCCCTCGTGCCTCCCCTGCCTCTCACAGCTTCCCCAAGGCTGACCACTGGCCCTGACCATGGGCTCCGGCGGCTCCCGCTGCCTCTTCAGGGCTCCTGCGTTTCCTTCCTGGCCCTGAGTGTTGCCTCTTATCTTACAAAGCCCCCAGCACCGGGTGGGTGTGGTAACAGTGGCCCTCCTGTCTGAGTAGCCCTAGTCGGCCACCCTGGCCCTGGGGTTCCCCGTGTTTTCTGGGAAGCACTGAGCAGGCGTGGGGTCAGCCTGGGATCCGTGCCAGGAAGAAGCTTCCAGAACCCGATTGGCCTTCCTGGCTAGGACGATCCTTCATCTTGGAGCATGAGACCTGGGTCTCCCTCATGGGGGAGGAAGGGGCTGGGGGGGGGCTCCAGGCTCAGCCTCACCAACTTTCCTTCCAGACCATCAGTGCTTACTATGCAAGGGTTGCCGCCCCTGGGTCCACCGGCGCCACCTTCCTGGCGGTCTGCCGGGGCAAGGTGAGCTCTCCAGGGCCCTCTGCCCTGACCTGGTTGCCTGTTCCCTGGTGGGTGCTTATGGCTCCCCAGCAGACTCTGGGCCCTGGGGGCTGCCCGGTCCCCTCCTTGGGTCCCACGAGAGCGACTGCTGGCCCTGCTGGGAGCGTGTCCTGCTCTGGGCCTGGGCAGGCAGGATGGGAGTTTCCTGGCCACAAGAGTTGGAGGTGGCGTCTGGGAGCTGTGGACCCCAAGTGGGGTCCTGACCCACAGATGGAGCTTCCTCCCACCCCTGGTTGGGGACGGAGCCTCGGGGAAGGTGGCTGGGCTGGGTGTGGGCACCAGGGAGAGGAGCCCCCACGGCCCCAGGCAGCTCCCTGGTGTGTCCCCTAGGCCAGCGAGGGGCTGGACTTCTCAGACACGAATGGCCGTGGTGTGATTGTCACGGGCCTCCCGTACCCCCCACGCATGGACCCCCGGGTTGTCCTCAAGATGCAGTTCCTGGATGAGATGAAGGGCCAGGGTGGGGCTGGGGGCCAGGTGAGTTACAGCAGGGTGGGGCTGGGGTAAGGCGGTCTGGTGACTGAGCCCCCGCCCCGTGGCCAAGGGAGCCCCCGTGACCGAGCCGCCTCGCCCCACAGTTCCTCTCTGGGCAGGAGTGGTACCGGCAGCAGGCGTCCAGGGCTGTGAACCAGGCCATCGGGCGAGTGATCCGGCACCGCCAGGACTACGGAGCTGTCTTCCTCTGTGACCACAGGTGCGTGCAGTCCGGTGGCAGGCGCGGCGCCAGGGGACACGCCCACACCCCACTGGGCCCCTGGACTCTCCTTCCCCACATGAGGCCCCGTCTCCTCCAGAGCCTCTCCGGCTACTCGGGGTCAGCGTGGGGCCCCTGCAGCAGATGAGGGTCTTCACTTCGGTGAACTGAACCCTTGAAGCGGCTGTGGGCAGGGCAGCAGGGCTATGGCCACCCCCCAGGTTCGCCTTTGCCGACGCAAGAGCCCAACTGCCCTCCTGGGTGCGTCCCCACGTCAGGGTGTATGACAACTTTGGCCATGTCATCCGAGACGTGGCCCAGTTCTTCCGTGTTGCCGAGCGAACTGTGAGTTCCTGCCCAGGGAGGGGATGAGGGTGTTGTCCCCAGAGGAGCCAGAAATGGGTCCACCCACCCCCATGGTTCTGCAGATGCCAGCGCCGGCCCCCCGGGCTACAGCACCCAGTGTGCGTGGAGAAGATGCTGTCAGCGAGGCCAAGTCGCCTGGCCCCTTCTTCTCCACCAGGAAAGCTAAGAGTCTGGACCTGCATGTCCCCAGCCTGAAGCAGAGGTCCTCAGGTGCGGACGGGCAGCGCTGGGTGGGCGGTGTGGGGGTGGCGGAGCGGGCGGCGTGGGGCGGGCAGCACCAGGCGCCCAGGGCGGAGGCGACTCACCTGGCTTTGTGCGCTTCCCCTCCCACCTCCAAAGGCTGCCTCTCCCTCCTAGGGCAGGGCCCCCACGGGCTGCAACCCTCCCCTACAGGCAGAGAACGCCCCAGGCAAGGATGCCCCCCGAGGCTGAGACTCCCCCCAATAGCAGGGAGGACACCCACAGGCAGGACCCCAAGTGCTGGGACTCTCCCCCAAGAGGGGCTTTGCCACAGGCAGGGACCCCAGCTGGGGCCCCCCGTGGGCTTCACTGCGCACTCGGGTGCCCCTGCAGGGTCACCAGCTGCCGGGGACCCCGAGAGTAGCCTGTGTGTGGAGTATGAGCAGGAGCCAGTTCCTGCCCGGCAGAGGCCCAGGGGGCTGCTGGCCGCCCTGGAGCACAGCGAACAGCGGGCGGGGAGCCCTGGCGAGGAGCAGGTACAGTTCCAGGGCCTTGGGATGGACACAGACCCTCTGTCTCCTGAGGCCAACCCGACCCCGCCCATCTGGCCTCAGGCACCTCCCCACACACCCCTGTAAATCCCCTGCCTGGCAGGCAGGCGGGCAAGCGGGCGGGGGATCCCAGCTGCCTGGCTGTCTGTGGGTCCTCCACCCCACCTCACCCACAGGCTGCTGGCTCCCAGGTGGTGCATGCCCTGGCCCTCCGCGGGTGCCCCCCACATCACTTTGGTTCTCTGGCGGGTCAGCTTGGCTCAGTGCACTCAAGGTCGGGTGCCCCTGCCACTGGCTGCGCTTGAGGCTGGCCTTTCTCCAGGAATGTGCTGCGGGTGGAACCCAGGTTCCTTCTTCCTTGGGGCCTTTTGCCCCAGAAGCCCATAATTCCTCAGGCCAACCCGAAATTTTCTCCCTGCTTCCTGCTGGGAGCCATTCCCCTCTTCCTGCCCATCCCTGCCCTTCAGGCCCCTGGAGTGAGCTCCAGGTGCAGGCACCAGGCACCTGTGTCCCCTTCCTGCCAGCCCCTCGCTGTGGTCGGACTGTCTTCCCTGGACCTGCTCTTACAAGTCACCACCTGCGAGCCTCATGAGCCGCTGGTGTGACTTGGACAGGACCAAGTTGTGGCACTGTCACCGGGGTGTGCTGTGCCCCCCTCCCCCGACCTCCATCTTGGCTCAGGGCTCCTTGGGACCATCTTCCCTGTGCGTCCAGGTGCTTTGGGACCCCAGAGTGTGTGGTTGGGGTCTGTGTGTGGTTGTGAGCTGTGTCCTCCTCAGGCCCACAGCTGCTCCACCCTGTCCCTCCTGTCTGAGAAGAGGCCGGCAGAAGAACCGCGAGGAGGGAGGAAGAAGATCCGGCTGGTCAGCCACCCGGTGCGTGAGCTGTCCCTGCACCTGTGCCGACCACCATAGACACGCATGGGAACGCAGCCGTGGGTGCCCCCAGCCACGGCTGGTCCCGATGGGACCAGGGAATCCACCCCCAGGAGCTGATGTCCAGGGCAGCTGTGATGCTGACGGCCAGGGGCTCAAGTGTGTGGTTTCTTCTGCAGGGGGCTCATGAGTCCCAGCTGGAATCAGGCCCCACCCTTGGGCAGGTTTGGCATGGGGCCTGCAGCACTGGGCTTGGCCCTGGCATTTCCCTCAAGTGTGGATGCACACCTGCCTCATGTGAGGGACACAGCCCATTCCTAGCCTTGGATCAAAGAACGGAGTTATAGCCGGAGCCAGGAAGCCCCCTGCCT
|
CTGAGCAGTGGCCTCTCCGGCTCTAGGTTTTCCGAGGAGTGCTTATCCTCCCTGGGGAAGGCTCTGGGTGAGTGCCCTGAATGCCCCAGCTGTGCCCATCCTGGATCCTGGACCCCTGCTCCCAAGAGCTGGTAGGGAACCCTGCAGACATCCTGCCCCTGCCTTGACCCCGGCCCCTGCACTTCCAGGCAACATCGCCCGCGTGGTGCCCTATGGGCTCCTGATCTTCTTCCCTTCCTATCCTGTCATGGAGAAGAGCCTGGAGTTCTGGCGGGTGCGTCTCCCCTGTGTTCTGGGCGGGGTGGGTGAGGGCAGGGCTGGAGCATGAAGCAGGCAGTGGTCACAGCTCCTGCTTGCCCTCATCGGATCGGCGGCGTGACCAGGGCTGCCGTGTCCCTGCCTCTTCCTCCCACAGGCCCGCGACTTGGCCAGGAAGATGGAGGCGCTGAAGCCGCTGTTTGTGGAGCCCAGGAGCAAAGGCAGCTTCTCCGAGGTCGGCACTTGGCCGGGGCTCTGGGCCTGCTGCCCCCTCGTGCCTCCCCTGCCTCTCACAGCTTCCCCAAGGCTGACCACTGGCCCTGACCATGGGCTCCGGCGGCTCCCGCTGCCTCTTCAGGGCTCCTGCGTTTCCTTCCTGGCCCTGAGTGTTGCCTCTTATCTTACAAAGCCCCCAGCACCGGGTGGGTGTGGTAACAGTGGCCCTCCTGTCTGAGTAGCCCTAGTCGGCCACCCTGGCCCTGGGGTTCCCCGTGTTTTCTGGGAAGCACTGAGCAGGCGTGGGGTCAGCCTGGGATCCGTGCCAGGAAGAAGCTTCCAGAACCCGATTGGCCTTCCTGGCTAGGACGATCCTTCATCTTGGAGCATGAGACCTGGGTCTCCCTCATGGGGGAGGAAGGGGCTGGGGGGGGGCTCCAGGCTCAGCCTCACCAACTTTCCTTCCAGACCATCAGTGCTTACTATGCAAGGGTTGCCGCCCCTGGGTCCACCGGCGCCACCTTCCTGGCGGTCTGCCGGGGCAAGGTGAGCTCTCCAGGGCCCTCTGCCCTGACCTGGTTGCCTGTTCCCTGGTGGGTGCTTATGGCTCCCCAGCAGACTCTGGGCCCTGGGGGCTGCCCGGTCCCCTCCTTGGGTCCCACGAGAGCGACTGCTGGCCCTGCTGGGAGCGTGTCCTGCTCTGGGCCTGGGCAGGCAGGATGGGAGTTTCCTGGCCACAAGAGTTGGAGGTGGCGTCTGGGAGCTGTGGACCCCAAGTGGGGTCCTGACCCACAGATGGAGCTTCCTCCCACCCCTGGTTGGGGACGGAGCCTCGGGGAAGGTGGCTGGGCTGGGTGTGGGCACCAGGGAGAGGAGCCCCCACGGCCCCAGGCAGCTCCCTGGTGTGTCCCCTAGGCCAGCGAGGGGCTGGACTTCTCAGACACGAATGGCCGTGGTGTGATTGTCACGGGCCTCCCGTACCCCCCACGCATGGACCCCCGGGTTGTCCTCAAGATGCAGTTCCTGGATGAGATGAAGGGCCAGGGTGGGGCTGGGGGCCAGGTGAGTTACAGCAGGGTGGGGCTGGGGTAAGGCGGTCTGGTGACTGAGCCCCCGCCCCGTGGCCAAGGGAGCCCCCGTGACCGAGCCGCCTCGCCCCACAGTTCCTCTCTGGGCAGGAGTGGTACCGGCAGCAGGCGTCCAGGGCTGTGAACCAGGCCATCGGGCGAGTGATCCGGCACCGCCAGGACTACGGAGCTGTCTTCCTCTGTGACCACAGGTGCGTGCAGTCCGGTGGCAGGCGCGGCGCCAGGGGACACGCCCACACCCCACTGGGCCCCTGGACTCTCCTTCCCCACATGAGGCCCCGTCTCCTCCAGAGCCTCTCCGGCTACTCGGGGTCAGCGTGGGGCCCCTGCAGCAGATGAGGGTCTTCACTTCGGTGAACTGAACCCTTGAAGCGGCTGTGGGCAGGGCAGCAGGGCTATGGCCACCCCCCAGGTTCGCCTTTGCCGACGCAAGAGCCCAACTGCCCTCCTGGGTGCGTCCCCACGTCAGGGTGTATGACAACTTTGGCCGAGACGTGGCCCAGTTCTTCCGTGTTGCCGAGCGAACTGTGAGTTCCTGCCCAGGGAGGGGATGAGGGTGTTGTCCCCAGAGGAGCCAGAAATGGGTCCACCCACCCCCATGGTTCTGCAGATGCCAGCGCCGGCCCCCCGGGCTACAGCACCCAGTGTGCGTGGAGAAGATGCTGTCAGCGAGGCCAAGTCGCCTGGCCCCTTCTTCTCCACCAGGAAAGCTAAGAGTCTGGACCTGCATGTCCCCAGCCTGAAGCAGAGGTCCTCAGGTGCGGACGGGCAGCGCTGGGTGGGCGGTGTGGGGGTGGCGGAGCGGGCGGCGTGGGGCGGGCAGCACCAGGCGCCCAGGGCGGAGGCGACTCACCTGGCTTTGTGCGCTTCCCCTCCCACCTCCAAAGGCTGCCTCTCCCTCCTAGGGCAGGGCCCCCACGGGCTGCAACCCTCCCCTACAGGCAGAGAACGCCCCAGGCAAGGATGCCCCCCGAGGCTGAGACTCCCCCCAATAGCAGGGAGGACACCCACAGGCAGGACCCCAAGTGCTGGGACTCTCCCCCAAGAGGGGCTTTGCCACAGGCAGGGACCCCAGCTGGGGCCCCCCGTGGGCTTCACTGCGCACTCGGGTGCCCCTGCAGGGTCACCAGCTGCCGGGGACCCCGAGAGTAGCCTGTGTGTGGAGTATGAGCAGGAGCCAGTTCCTGCCCGGCAGAGGCCCAGGGGGCTGCTGGCCGCCCTGGAGCACAGCGAACAGCGGGCGGGGAGCCCTGGCGAGGAGCAGGTACAGTTCCAGGGCCTTGGGATGGACACAGACCCTCTGTCTCCTGAGGCCAACCCGACCCCGCCCATCTGGCCTCAGGCACCTCCCCACACACCCCTGTAAATCCCCTGCCTGGCAGGCAGGCGGGCAAGCGGGCGGGGGATCCCAGCTGCCTGGCTGTCTGTGGGTCCTCCACCCCACCTCACCCACAGGCTGCTGGCTCCCAGGTGGTGCATGCCCTGGCCCTCCGCGGGTGCCCCCCACATCACTTTGGTTCTCTGGCGGGTCAGCTTGGCTCAGTGCACTCAAGGTCGGGTGCCCCTGCCACTGGCTGCGCTTGAGGCTGGCCTTTCTCCAGGAATGTGCTGCGGGTGGAACCCAGGTTCCTTCTTCCTTGGGGCCTTTTGCCCCAGAAGCCCATAATTCCTCAGGCCAACCCGAAATTTTCTCCCTGCTTCCTGCTGGGAGCCATTCCCCTCTTCCTGCCCATCCCTGCCCTTCAGGCCCCTGGAGTGAGCTCCAGGTGCAGGCACCAGGCACCTGTGTCCCCTTCCTGCCAGCCCCTCGCTGTGGTCGGACTGTCTTCCCTGGACCTGCTCTTACAAGTCACCACCTGCGAGCCTCATGAGCCGCTGGTGTGACTTGGACAGGACCAAGTTGTGGCACTGTCACCGGGGTGTGCTGTGCCCCCCTCCCCCGACCTCCATCTTGGCTCAGGGCTCCTTGGGACCATCTTCCCTGTGCGTCCAGGTGCTTTGGGACCCCAGAGTGTGTGGTTGGGGTCTGTGTGTGGTTGTGAGCTGTGTCCTCCTCAGGCCCACAGCTGCTCCACCCTGTCCCTCCTGTCTGAGAAGAGGCCGGCAGAAGAACCGCGAGGAGGGAGGAAGAAGATCCGGCTGGTCAGCCACCCGGTGCGTGAGCTGTCCCTGCACCTGTGCCGACCACCATAGACACGCATGGGAACGCAGCCGTGGGTGCCCCCAGCCACGGCTGGTCCCGATGGGACCAGGGAATCCACCCCCAGGAGCTGATGTCCAGGGCAGCTGTGATGCTGACGGCCAGGGGCTCAAGTGTGTGGTTTCTTCTGCAGGGGGCTCATGAGTCCCAGCTGGAATCAGGCCCCACCCTTGGGCAGGTTTGGCATGGGGCCTGCAGCACTGGGCTTGGCCCTGGCATTTCCCTCAAGTGTGGATGCACACCTGCCTCATGTGAGGGACACAGCCCATTCCTAGCCTTGGATCAAAGAACGGAGTTATAGCCGGAGCCAGGAAGCCCCCTGCCTNNNNNNNNN
|
pathogenic
| 316,798 |
Chromosome 20, position 63690337, gene RTEL1: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
CTGCACTTCCAGGCAACATCGCCCGCGTGGTGCCCTATGGGCTCCTGATCTTCTTCCCTTCCTATCCTGTCATGGAGAAGAGCCTGGAGTTCTGGCGGGTGCGTCTCCCCTGTGTTCTGGGCGGGGTGGGTGAGGGCAGGGCTGGAGCATGAAGCAGGCAGTGGTCACAGCTCCTGCTTGCCCTCATCGGATCGGCGGCGTGACCAGGGCTGCCGTGTCCCTGCCTCTTCCTCCCACAGGCCCGCGACTTGGCCAGGAAGATGGAGGCGCTGAAGCCGCTGTTTGTGGAGCCCAGGAGCAAAGGCAGCTTCTCCGAGGTCGGCACTTGGCCGGGGCTCTGGGCCTGCTGCCCCCTCGTGCCTCCCCTGCCTCTCACAGCTTCCCCAAGGCTGACCACTGGCCCTGACCATGGGCTCCGGCGGCTCCCGCTGCCTCTTCAGGGCTCCTGCGTTTCCTTCCTGGCCCTGAGTGTTGCCTCTTATCTTACAAAGCCCCCAGCACCGGGTGGGTGTGGTAACAGTGGCCCTCCTGTCTGAGTAGCCCTAGTCGGCCACCCTGGCCCTGGGGTTCCCCGTGTTTTCTGGGAAGCACTGAGCAGGCGTGGGGTCAGCCTGGGATCCGTGCCAGGAAGAAGCTTCCAGAACCCGATTGGCCTTCCTGGCTAGGACGATCCTTCATCTTGGAGCATGAGACCTGGGTCTCCCTCATGGGGGAGGAAGGGGCTGGGGGGGGGCTCCAGGCTCAGCCTCACCAACTTTCCTTCCAGACCATCAGTGCTTACTATGCAAGGGTTGCCGCCCCTGGGTCCACCGGCGCCACCTTCCTGGCGGTCTGCCGGGGCAAGGTGAGCTCTCCAGGGCCCTCTGCCCTGACCTGGTTGCCTGTTCCCTGGTGGGTGCTTATGGCTCCCCAGCAGACTCTGGGCCCTGGGGGCTGCCCGGTCCCCTCCTTGGGTCCCACGAGAGCGACTGCTGGCCCTGCTGGGAGCGTGTCCTGCTCTGGGCCTGGGCAGGCAGGATGGGAGTTTCCTGGCCACAAGAGTTGGAGGTGGCGTCTGGGAGCTGTGGACCCCAAGTGGGGTCCTGACCCACAGATGGAGCTTCCTCCCACCCCTGGTTGGGGACGGAGCCTCGGGGAAGGTGGCTGGGCTGGGTGTGGGCACCAGGGAGAGGAGCCCCCACGGCCCCAGGCAGCTCCCTGGTGTGTCCCCTAGGCCAGCGAGGGGCTGGACTTCTCAGACACGAATGGCCGTGGTGTGATTGTCACGGGCCTCCCGTACCCCCCACGCATGGACCCCCGGGTTGTCCTCAAGATGCAGTTCCTGGATGAGATGAAGGGCCAGGGTGGGGCTGGGGGCCAGGTGAGTTACAGCAGGGTGGGGCTGGGGTAAGGCGGTCTGGTGACTGAGCCCCCGCCCCGTGGCCAAGGGAGCCCCCGTGACCGAGCCGCCTCGCCCCACAGTTCCTCTCTGGGCAGGAGTGGTACCGGCAGCAGGCGTCCAGGGCTGTGAACCAGGCCATCGGGCGAGTGATCCGGCACCGCCAGGACTACGGAGCTGTCTTCCTCTGTGACCACAGGTGCGTGCAGTCCGGTGGCAGGCGCGGCGCCAGGGGACACGCCCACACCCCACTGGGCCCCTGGACTCTCCTTCCCCACATGAGGCCCCGTCTCCTCCAGAGCCTCTCCGGCTACTCGGGGTCAGCGTGGGGCCCCTGCAGCAGATGAGGGTCTTCACTTCGGTGAACTGAACCCTTGAAGCGGCTGTGGGCAGGGCAGCAGGGCTATGGCCACCCCCCAGGTTCGCCTTTGCCGACGCAAGAGCCCAACTGCCCTCCTGGGTGCGTCCCCACGTCAGGGTGTATGACAACTTTGGCCATGTCATCCGAGACGTGGCCCAGTTCTTCCGTGTTGCCGAGCGAACTGTGAGTTCCTGCCCAGGGAGGGGATGAGGGTGTTGTCCCCAGAGGAGCCAGAAATGGGTCCACCCACCCCCATGGTTCTGCAGATGCCAGCGCCGGCCCCCCGGGCTACAGCACCCAGTGTGCGTGGAGAAGATGCTGTCAGCGAGGCCAAGTCGCCTGGCCCCTTCTTCTCCACCAGGAAAGCTAAGAGTCTGGACCTGCATGTCCCCAGCCTGAAGCAGAGGTCCTCAGGTGCGGACGGGCAGCGCTGGGTGGGCGGTGTGGGGGTGGCGGAGCGGGCGGCGTGGGGCGGGCAGCACCAGGCGCCCAGGGCGGAGGCGACTCACCTGGCTTTGTGCGCTTCCCCTCCCACCTCCAAAGGCTGCCTCTCCCTCCTAGGGCAGGGCCCCCACGGGCTGCAACCCTCCCCTACAGGCAGAGAACGCCCCAGGCAAGGATGCCCCCCGAGGCTGAGACTCCCCCCAATAGCAGGGAGGACACCCACAGGCAGGACCCCAAGTGCTGGGACTCTCCCCCAAGAGGGGCTTTGCCACAGGCAGGGACCCCAGCTGGGGCCCCCCGTGGGCTTCACTGCGCACTCGGGTGCCCCTGCAGGGTCACCAGCTGCCGGGGACCCCGAGAGTAGCCTGTGTGTGGAGTATGAGCAGGAGCCAGTTCCTGCCCGGCAGAGGCCCAGGGGGCTGCTGGCCGCCCTGGAGCACAGCGAACAGCGGGCGGGGAGCCCTGGCGAGGAGCAGGTACAGTTCCAGGGCCTTGGGATGGACACAGACCCTCTGTCTCCTGAGGCCAACCCGACCCCGCCCATCTGGCCTCAGGCACCTCCCCACACACCCCTGTAAATCCCCTGCCTGGCAGGCAGGCGGGCAAGCGGGCGGGGGATCCCAGCTGCCTGGCTGTCTGTGGGTCCTCCACCCCACCTCACCCACAGGCTGCTGGCTCCCAGGTGGTGCATGCCCTGGCCCTCCGCGGGTGCCCCCCACATCACTTTGGTTCTCTGGCGGGTCAGCTTGGCTCAGTGCACTCAAGGTCGGGTGCCCCTGCCACTGGCTGCGCTTGAGGCTGGCCTTTCTCCAGGAATGTGCTGCGGGTGGAACCCAGGTTCCTTCTTCCTTGGGGCCTTTTGCCCCAGAAGCCCATAATTCCTCAGGCCAACCCGAAATTTTCTCCCTGCTTCCTGCTGGGAGCCATTCCCCTCTTCCTGCCCATCCCTGCCCTTCAGGCCCCTGGAGTGAGCTCCAGGTGCAGGCACCAGGCACCTGTGTCCCCTTCCTGCCAGCCCCTCGCTGTGGTCGGACTGTCTTCCCTGGACCTGCTCTTACAAGTCACCACCTGCGAGCCTCATGAGCCGCTGGTGTGACTTGGACAGGACCAAGTTGTGGCACTGTCACCGGGGTGTGCTGTGCCCCCCTCCCCCGACCTCCATCTTGGCTCAGGGCTCCTTGGGACCATCTTCCCTGTGCGTCCAGGTGCTTTGGGACCCCAGAGTGTGTGGTTGGGGTCTGTGTGTGGTTGTGAGCTGTGTCCTCCTCAGGCCCACAGCTGCTCCACCCTGTCCCTCCTGTCTGAGAAGAGGCCGGCAGAAGAACCGCGAGGAGGGAGGAAGAAGATCCGGCTGGTCAGCCACCCGGTGCGTGAGCTGTCCCTGCACCTGTGCCGACCACCATAGACACGCATGGGAACGCAGCCGTGGGTGCCCCCAGCCACGGCTGGTCCCGATGGGACCAGGGAATCCACCCCCAGGAGCTGATGTCCAGGGCAGCTGTGATGCTGACGGCCAGGGGCTCAAGTGTGTGGTTTCTTCTGCAGGGGGCTCATGAGTCCCAGCTGGAATCAGGCCCCACCCTTGGGCAGGTTTGGCATGGGGCCTGCAGCACTGGGCTTGGCCCTGGCATTTCCCTCAAGTGTGGATGCACACCTGCCTCATGTGAGGGACACAGCCCATTCCTAGCCTTGGATCAAAGAACGGAGTTATAGCCGGAGCCAGGAAGCCCCCTGCCTGCTGGAAAACCCCAAGTGTGGCGGCCTTTGTCCATGTCCCTTGGCTTCTGGGAAGAACTGGGTGGTGCCCAGGCAGGGCTGGTGCCATCAGGAAGTGGGTGGCTGCTGAGGGGCCTGGGCTGGCGAGGGCCTGGGTGGGGAGTGCCTGGGCCGCCCCTGCCTTGGTTTCCACGTTT
|
CTGCACTTCCAGGCAACATCGCCCGCGTGGTGCCCTATGGGCTCCTGATCTTCTTCCCTTCCTATCCTGTCATGGAGAAGAGCCTGGAGTTCTGGCGGGTGCGTCTCCCCTGTGTTCTGGGCGGGGTGGGTGAGGGCAGGGCTGGAGCATGAAGCAGGCAGTGGTCACAGCTCCTGCTTGCCCTCATCGGATCGGCGGCGTGACCAGGGCTGCCGTGTCCCTGCCTCTTCCTCCCACAGGCCCGCGACTTGGCCAGGAAGATGGAGGCGCTGAAGCCGCTGTTTGTGGAGCCCAGGAGCAAAGGCAGCTTCTCCGAGGTCGGCACTTGGCCGGGGCTCTGGGCCTGCTGCCCCCTCGTGCCTCCCCTGCCTCTCACAGCTTCCCCAAGGCTGACCACTGGCCCTGACCATGGGCTCCGGCGGCTCCCGCTGCCTCTTCAGGGCTCCTGCGTTTCCTTCCTGGCCCTGAGTGTTGCCTCTTATCTTACAAAGCCCCCAGCACCGGGTGGGTGTGGTAACAGTGGCCCTCCTGTCTGAGTAGCCCTAGTCGGCCACCCTGGCCCTGGGGTTCCCCGTGTTTTCTGGGAAGCACTGAGCAGGCGTGGGGTCAGCCTGGGATCCGTGCCAGGAAGAAGCTTCCAGAACCCGATTGGCCTTCCTGGCTAGGACGATCCTTCATCTTGGAGCATGAGACCTGGGTCTCCCTCATGGGGGAGGAAGGGGCTGGGGGGGGGCTCCAGGCTCAGCCTCACCAACTTTCCTTCCAGACCATCAGTGCTTACTATGCAAGGGTTGCCGCCCCTGGGTCCACCGGCGCCACCTTCCTGGCGGTCTGCCGGGGCAAGGTGAGCTCTCCAGGGCCCTCTGCCCTGACCTGGTTGCCTGTTCCCTGGTGGGTGCTTATGGCTCCCCAGCAGACTCTGGGCCCTGGGGGCTGCCCGGTCCCCTCCTTGGGTCCCACGAGAGCGACTGCTGGCCCTGCTGGGAGCGTGTCCTGCTCTGGGCCTGGGCAGGCAGGATGGGAGTTTCCTGGCCACAAGAGTTGGAGGTGGCGTCTGGGAGCTGTGGACCCCAAGTGGGGTCCTGACCCACAGATGGAGCTTCCTCCCACCCCTGGTTGGGGACGGAGCCTCGGGGAAGGTGGCTGGGCTGGGTGTGGGCACCAGGGAGAGGAGCCCCCACGGCCCCAGGCAGCTCCCTGGTGTGTCCCCTAGGCCAGCGAGGGGCTGGACTTCTCAGACACGAATGGCCGTGGTGTGATTGTCACGGGCCTCCCGTACCCCCCACGCATGGACCCCCGGGTTGTCCTCAAGATGCAGTTCCTGGATGAGATGAAGGGCCAGGGTGGGGCTGGGGGCCAGGTGAGTTACAGCAGGGTGGGGCTGGGGTAAGGCGGTCTGGTGACTGAGCCCCCGCCCCGTGGCCAAGGGAGCCCCCGTGACCGAGCCGCCTCGCCCCACAGTTCCTCTCTGGGCAGGAGTGGTACCGGCAGCAGGCGTCCAGGGCTGTGAACCAGGCCATCGGGCGAGTGATCCGGCACCGCCAGGACTACGGAGCTGTCTTCCTCTGTGACCACAGGTGCGTGCAGTCCGGTGGCAGGCGCGGCGCCAGGGGACACGCCCACACCCCACTGGGCCCCTGGACTCTCCTTCCCCACATGAGGCCCCGTCTCCTCCAGAGCCTCTCCGGCTACTCGGGGTCAGCGTGGGGCCCCTGCAGCAGATGAGGGTCTTCACTTCGGTGAACTGAACCCTTGAAGCGGCTGTGGGCAGGGCAGCAGGGCTATGGCCACCCCCCAGGTTCGCCTTTGCCGACGCAAGAGCCCAACTGCCCTCCTGGGTGCGTCCCCACGTCAGGGTGTATGACAACTTTGGCCATGTCATCCGAGACGTGGCCCAGTTCTTCCGTGTTGCCGAGCGAACTGTGAGTTCCTGCCCAGGGAGGGGATGAGGGTGTTGTCCCCAGAGGAGCCAGAAATGGGTCCACCCACCCCCATGGTTCTGCAGATGCCAGCGCCGGCCCCCCGGGCTACAGCACCCAGTGTGCGTGGAGATGCTGTCAGCGAGGCCAAGTCGCCTGGCCCCTTCTTCTCCACCAGGAAAGCTAAGAGTCTGGACCTGCATGTCCCCAGCCTGAAGCAGAGGTCCTCAGGTGCGGACGGGCAGCGCTGGGTGGGCGGTGTGGGGGTGGCGGAGCGGGCGGCGTGGGGCGGGCAGCACCAGGCGCCCAGGGCGGAGGCGACTCACCTGGCTTTGTGCGCTTCCCCTCCCACCTCCAAAGGCTGCCTCTCCCTCCTAGGGCAGGGCCCCCACGGGCTGCAACCCTCCCCTACAGGCAGAGAACGCCCCAGGCAAGGATGCCCCCCGAGGCTGAGACTCCCCCCAATAGCAGGGAGGACACCCACAGGCAGGACCCCAAGTGCTGGGACTCTCCCCCAAGAGGGGCTTTGCCACAGGCAGGGACCCCAGCTGGGGCCCCCCGTGGGCTTCACTGCGCACTCGGGTGCCCCTGCAGGGTCACCAGCTGCCGGGGACCCCGAGAGTAGCCTGTGTGTGGAGTATGAGCAGGAGCCAGTTCCTGCCCGGCAGAGGCCCAGGGGGCTGCTGGCCGCCCTGGAGCACAGCGAACAGCGGGCGGGGAGCCCTGGCGAGGAGCAGGTACAGTTCCAGGGCCTTGGGATGGACACAGACCCTCTGTCTCCTGAGGCCAACCCGACCCCGCCCATCTGGCCTCAGGCACCTCCCCACACACCCCTGTAAATCCCCTGCCTGGCAGGCAGGCGGGCAAGCGGGCGGGGGATCCCAGCTGCCTGGCTGTCTGTGGGTCCTCCACCCCACCTCACCCACAGGCTGCTGGCTCCCAGGTGGTGCATGCCCTGGCCCTCCGCGGGTGCCCCCCACATCACTTTGGTTCTCTGGCGGGTCAGCTTGGCTCAGTGCACTCAAGGTCGGGTGCCCCTGCCACTGGCTGCGCTTGAGGCTGGCCTTTCTCCAGGAATGTGCTGCGGGTGGAACCCAGGTTCCTTCTTCCTTGGGGCCTTTTGCCCCAGAAGCCCATAATTCCTCAGGCCAACCCGAAATTTTCTCCCTGCTTCCTGCTGGGAGCCATTCCCCTCTTCCTGCCCATCCCTGCCCTTCAGGCCCCTGGAGTGAGCTCCAGGTGCAGGCACCAGGCACCTGTGTCCCCTTCCTGCCAGCCCCTCGCTGTGGTCGGACTGTCTTCCCTGGACCTGCTCTTACAAGTCACCACCTGCGAGCCTCATGAGCCGCTGGTGTGACTTGGACAGGACCAAGTTGTGGCACTGTCACCGGGGTGTGCTGTGCCCCCCTCCCCCGACCTCCATCTTGGCTCAGGGCTCCTTGGGACCATCTTCCCTGTGCGTCCAGGTGCTTTGGGACCCCAGAGTGTGTGGTTGGGGTCTGTGTGTGGTTGTGAGCTGTGTCCTCCTCAGGCCCACAGCTGCTCCACCCTGTCCCTCCTGTCTGAGAAGAGGCCGGCAGAAGAACCGCGAGGAGGGAGGAAGAAGATCCGGCTGGTCAGCCACCCGGTGCGTGAGCTGTCCCTGCACCTGTGCCGACCACCATAGACACGCATGGGAACGCAGCCGTGGGTGCCCCCAGCCACGGCTGGTCCCGATGGGACCAGGGAATCCACCCCCAGGAGCTGATGTCCAGGGCAGCTGTGATGCTGACGGCCAGGGGCTCAAGTGTGTGGTTTCTTCTGCAGGGGGCTCATGAGTCCCAGCTGGAATCAGGCCCCACCCTTGGGCAGGTTTGGCATGGGGCCTGCAGCACTGGGCTTGGCCCTGGCATTTCCCTCAAGTGTGGATGCACACCTGCCTCATGTGAGGGACACAGCCCATTCCTAGCCTTGGATCAAAGAACGGAGTTATAGCCGGAGCCAGGAAGCCCCCTGCCTGCTGGAAAACCCCAAGTGTGGCGGCCTTTGTCCATGTCCCTTGGCTTCTGGGAAGAACTGGGTGGTGCCCAGGCAGGGCTGGTGCCATCAGGAAGTGGGTGGCTGCTGAGGGGCCTGGGCTGGCGAGGGCCTGGGTGGGGAGTGCCTGGGCCGCCCCTGCCTTGGTTTCCACGTTTNNN
|
benign
| 316,812 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 63691768, gene RTEL1. What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3']
|
CCCCCGTGACCGAGCCGCCTCGCCCCACAGTTCCTCTCTGGGCAGGAGTGGTACCGGCAGCAGGCGTCCAGGGCTGTGAACCAGGCCATCGGGCGAGTGATCCGGCACCGCCAGGACTACGGAGCTGTCTTCCTCTGTGACCACAGGTGCGTGCAGTCCGGTGGCAGGCGCGGCGCCAGGGGACACGCCCACACCCCACTGGGCCCCTGGACTCTCCTTCCCCACATGAGGCCCCGTCTCCTCCAGAGCCTCTCCGGCTACTCGGGGTCAGCGTGGGGCCCCTGCAGCAGATGAGGGTCTTCACTTCGGTGAACTGAACCCTTGAAGCGGCTGTGGGCAGGGCAGCAGGGCTATGGCCACCCCCCAGGTTCGCCTTTGCCGACGCAAGAGCCCAACTGCCCTCCTGGGTGCGTCCCCACGTCAGGGTGTATGACAACTTTGGCCATGTCATCCGAGACGTGGCCCAGTTCTTCCGTGTTGCCGAGCGAACTGTGAGTTCCTGCCCAGGGAGGGGATGAGGGTGTTGTCCCCAGAGGAGCCAGAAATGGGTCCACCCACCCCCATGGTTCTGCAGATGCCAGCGCCGGCCCCCCGGGCTACAGCACCCAGTGTGCGTGGAGAAGATGCTGTCAGCGAGGCCAAGTCGCCTGGCCCCTTCTTCTCCACCAGGAAAGCTAAGAGTCTGGACCTGCATGTCCCCAGCCTGAAGCAGAGGTCCTCAGGTGCGGACGGGCAGCGCTGGGTGGGCGGTGTGGGGGTGGCGGAGCGGGCGGCGTGGGGCGGGCAGCACCAGGCGCCCAGGGCGGAGGCGACTCACCTGGCTTTGTGCGCTTCCCCTCCCACCTCCAAAGGCTGCCTCTCCCTCCTAGGGCAGGGCCCCCACGGGCTGCAACCCTCCCCTACAGGCAGAGAACGCCCCAGGCAAGGATGCCCCCCGAGGCTGAGACTCCCCCCAATAGCAGGGAGGACACCCACAGGCAGGACCCCAAGTGCTGGGACTCTCCCCCAAGAGGGGCTTTGCCACAGGCAGGGACCCCAGCTGGGGCCCCCCGTGGGCTTCACTGCGCACTCGGGTGCCCCTGCAGGGTCACCAGCTGCCGGGGACCCCGAGAGTAGCCTGTGTGTGGAGTATGAGCAGGAGCCAGTTCCTGCCCGGCAGAGGCCCAGGGGGCTGCTGGCCGCCCTGGAGCACAGCGAACAGCGGGCGGGGAGCCCTGGCGAGGAGCAGGTACAGTTCCAGGGCCTTGGGATGGACACAGACCCTCTGTCTCCTGAGGCCAACCCGACCCCGCCCATCTGGCCTCAGGCACCTCCCCACACACCCCTGTAAATCCCCTGCCTGGCAGGCAGGCGGGCAAGCGGGCGGGGGATCCCAGCTGCCTGGCTGTCTGTGGGTCCTCCACCCCACCTCACCCACAGGCTGCTGGCTCCCAGGTGGTGCATGCCCTGGCCCTCCGCGGGTGCCCCCCACATCACTTTGGTTCTCTGGCGGGTCAGCTTGGCTCAGTGCACTCAAGGTCGGGTGCCCCTGCCACTGGCTGCGCTTGAGGCTGGCCTTTCTCCAGGAATGTGCTGCGGGTGGAACCCAGGTTCCTTCTTCCTTGGGGCCTTTTGCCCCAGAAGCCCATAATTCCTCAGGCCAACCCGAAATTTTCTCCCTGCTTCCTGCTGGGAGCCATTCCCCTCTTCCTGCCCATCCCTGCCCTTCAGGCCCCTGGAGTGAGCTCCAGGTGCAGGCACCAGGCACCTGTGTCCCCTTCCTGCCAGCCCCTCGCTGTGGTCGGACTGTCTTCCCTGGACCTGCTCTTACAAGTCACCACCTGCGAGCCTCATGAGCCGCTGGTGTGACTTGGACAGGACCAAGTTGTGGCACTGTCACCGGGGTGTGCTGTGCCCCCCTCCCCCGACCTCCATCTTGGCTCAGGGCTCCTTGGGACCATCTTCCCTGTGCGTCCAGGTGCTTTGGGACCCCAGAGTGTGTGGTTGGGGTCTGTGTGTGGTTGTGAGCTGTGTCCTCCTCAGGCCCACAGCTGCTCCACCCTGTCCCTCCTGTCTGAGAAGAGGCCGGCAGAAGAACCGCGAGGAGGGAGGAAGAAGATCCGGCTGGTCAGCCACCCGGTGCGTGAGCTGTCCCTGCACCTGTGCCGACCACCATAGACACGCATGGGAACGCAGCCGTGGGTGCCCCCAGCCACGGCTGGTCCCGATGGGACCAGGGAATCCACCCCCAGGAGCTGATGTCCAGGGCAGCTGTGATGCTGACGGCCAGGGGCTCAAGTGTGTGGTTTCTTCTGCAGGGGGCTCATGAGTCCCAGCTGGAATCAGGCCCCACCCTTGGGCAGGTTTGGCATGGGGCCTGCAGCACTGGGCTTGGCCCTGGCATTTCCCTCAAGTGTGGATGCACACCTGCCTCATGTGAGGGACACAGCCCATTCCTAGCCTTGGATCAAAGAACGGAGTTATAGCCGGAGCCAGGAAGCCCCCTGCCTGCTGGAAAACCCCAAGTGTGGCGGCCTTTGTCCATGTCCCTTGGCTTCTGGGAAGAACTGGGTGGTGCCCAGGCAGGGCTGGTGCCATCAGGAAGTGGGTGGCTGCTGAGGGGCCTGGGCTGGCGAGGGCCTGGGTGGGGAGTGCCTGGGCCGCCCCTGCCTTGGTTTCCACGTTTCCGTGTTGGTCTGGGGTGTGTAGAGAGATGGGCACTGCTCATCCGGAAGCCCCTCCTTGTGCGCTGCCATCCTGGGAGCCTCAGCCGCATCCGCTGTGGGGCAGGGGGCTTGAGGGAGGAGGAGAGAGACGGGCCATGCAGGACCCCTGGCTTGAGGCAGAGCCAATCTACCCTTTGCCCATTCACTGCTCTCAGTTCCCTGCCAGCCTCTCACTGTGTGACCTCAGACGGGCCCAGCCCCACAGCTTTCTTCCCGCAGCCCCTCCCTATGTCCATCCAGCCAGCCAGTTTCTCAGGCAGCAGCCCCACCTCGGCAGTCACTGTCCCAGGGAACGCTCAATGTTCCAAGGAAGGCTCTGCAGCCCCAGGGACCAGATGATGAGGCTGGCCCTGATGGAGCCTCGGGCCTGTGTCCTGCAGGAGGAGCCCGTGGCTGGTGCACAGACGGACAGGGCCAAGCTCTTCATGGTGGCCGTGAAGCAGGAGTTGAGCCAAGCCAACTTTGCCACCTTCACCCAGGCCCTGCAGGACTACAAGGGTTCCGATGACTTCGCCGCCCTGGCCGCCTGTCTCGGCCCCCTCTTTGCTGAGGACCCCAAGAAGCACAACCTGCTCCAAGGTGCCCTGGCTTGCAGAGGCCACCCACCCTGAGGGCAGTGCTGCCGCCGCGTGTGGGGTGGGGGCCATCTGGGTCCAAGGTGGTCTCTGTTCTCTAGAGAAAAAGGGGCAGATGGGGACAGACGCCCCTTCCTCTACAGGCTTCTACCAGTTTGTGCGGCCCCACCATAAGCAGCAGTTTGAGGAGGTCTGTATCCAGCTGACAGGACGAGGCTGTGGCTATCGGCCTGAGCACAGCATTCCCCGAAGGCAGCGGGCACAGCCGGTCCTGGACCCCACTGGTAAATGGGGCCCCAGGTGGGACCCTCAGACTCCTGCGTGGAAGGCAGTGTGGGCCAGAGTCCTGGGCTGCTTGGGGTGGGCATCCTCGGGCCCTGCTTGGCCCCGCCTCTCTGTTCCCCTATGGGAGTGATGGGGGCCTCCACCTCCACCACCAGCACCAGCAGCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATGCACAG
|
CCCCCGTGACCGAGCCGCCTCGCCCCACAGTTCCTCTCTGGGCAGGAGTGGTACCGGCAGCAGGCGTCCAGGGCTGTGAACCAGGCCATCGGGCGAGTGATCCGGCACCGCCAGGACTACGGAGCTGTCTTCCTCTGTGACCACAGGTGCGTGCAGTCCGGTGGCAGGCGCGGCGCCAGGGGACACGCCCACACCCCACTGGGCCCCTGGACTCTCCTTCCCCACATGAGGCCCCGTCTCCTCCAGAGCCTCTCCGGCTACTCGGGGTCAGCGTGGGGCCCCTGCAGCAGATGAGGGTCTTCACTTCGGTGAACTGAACCCTTGAAGCGGCTGTGGGCAGGGCAGCAGGGCTATGGCCACCCCCCAGGTTCGCCTTTGCCGACGCAAGAGCCCAACTGCCCTCCTGGGTGCGTCCCCACGTCAGGGTGTATGACAACTTTGGCCATGTCATCCGAGACGTGGCCCAGTTCTTCCGTGTTGCCGAGCGAACTGTGAGTTCCTGCCCAGGGAGGGGATGAGGGTGTTGTCCCCAGAGGAGCCAGAAATGGGTCCACCCACCCCCATGGTTCTGCAGATGCCAGCGCCGGCCCCCCGGGCTACAGCACCCAGTGTGCGTGGAGAAGATGCTGTCAGCGAGGCCAAGTCGCCTGGCCCCTTCTTCTCCACCAGGAAAGCTAAGAGTCTGGACCTGCATGTCCCCAGCCTGAAGCAGAGGTCCTCAGGTGCGGACGGGCAGCGCTGGGTGGGCGGTGTGGGGGTGGCGGAGCGGGCGGCGTGGGGCGGGCAGCACCAGGCGCCCAGGGCGGAGGCGACTCACCTGGCTTTGTGCGCTTCCCCTCCCACCTCCAAAGGCTGCCTCTCCCTCCTAGGGCAGGGCCCCCACGGGCTGCAACCCTCCCCTACAGGCAGAGAACGCCCCAGGCAAGGATGCCCCCCGAGGCTGAGACTCCCCCCAATAGCAGGGAGGACACCCACAGGCAGGACCCCAAGTGCTGGGACTCTCCCCCAAGAGGGGCTTTGCCACAGGCAGGGACCCCAGCTGGGGCCCCCCGTGGGCTTCACTGCGCACTCGGGTGCCCCTGCAGGGTCACCAGCTGCCGGGGACCCCGAGAGTAGCCTGTGTGTGGAGTATGAGCAGGAGCCAGTTCCTGCCCGGCAGAGGCCCAGGGGGCTGCTGGCCGCCCTGGAGCACAGCGAACAGCGGGCGGGGAGCCCTGGCGAGGAGCAGGTACAGTTCCAGGGCCTTGGGATGGACACAGACCCTCTGTCTCCTGAGGCCAACCCGACCCCGCCCATCTGGCCTCAGGCACCTCCCCACACACCCCTGTAAATCCCCTGCCTGGCAGGCAGGCGGGCAAGCGGGCGGGGGATCCCAGCTGCCTGGCTGTCTGTGGGTCCTCCACCCCACCTCACCCACAGGCTGCTGGCTCCCAGGTGGTGCATGCCCTGGCCCTCCGCGGGTGCCCCCCACATCACTTTGGTTCTCTGGCGGGTCAGCTTGGCTCAGTGCACTCAAGGTCGGGTGCCCCTGCCACTGGCTGCGCTTGAGGCTGGCCTTTCTCCAGGAATGTGCTGCGGGTGGAACCCAGGTTCCTTCTTCCTTGGGGCCTTTTGCCCCAGAAGCCCATAATTCCTCAGGCCAACCCGAAATTTTCTCCCTGCTTCCTGCTGGGAGCCATTCCCCTCTTCCTGCCCATCCCTGCCCTTCAGGCCCCTGGAGTGAGCTCCAGGTGCAGGCACCAGGCACCTGTGTCCCCTTCCTGCCAGCCCCTCGCTGTGGTCGGACTGTCTTCCCTGGACCTGCTCTTACAAGTCACCACCTGCGAGCCTCATGAGCCGCTGGTGTGACTTGGACAGGACCAAGTTGTGGCACTGTCACCGGGGTGTGCTGTGCCCCCCTCCCCCGACCTCCATCTTGGCTCAGGGCTCCTTGGGACCATCTTCCCTGTGCGTCCAGGTGCTTTGGGACCCCAGAGTGTGTGGTTGGGGTCTGTGTGTGGTTGTGAGCTGTGTCCTCCTCAGGCCCACAGCTGCTCCACCCTGTCCCTCCTGAGAAGAGGCCGGCAGAAGAACCGCGAGGAGGGAGGAAGAAGATCCGGCTGGTCAGCCACCCGGTGCGTGAGCTGTCCCTGCACCTGTGCCGACCACCATAGACACGCATGGGAACGCAGCCGTGGGTGCCCCCAGCCACGGCTGGTCCCGATGGGACCAGGGAATCCACCCCCAGGAGCTGATGTCCAGGGCAGCTGTGATGCTGACGGCCAGGGGCTCAAGTGTGTGGTTTCTTCTGCAGGGGGCTCATGAGTCCCAGCTGGAATCAGGCCCCACCCTTGGGCAGGTTTGGCATGGGGCCTGCAGCACTGGGCTTGGCCCTGGCATTTCCCTCAAGTGTGGATGCACACCTGCCTCATGTGAGGGACACAGCCCATTCCTAGCCTTGGATCAAAGAACGGAGTTATAGCCGGAGCCAGGAAGCCCCCTGCCTGCTGGAAAACCCCAAGTGTGGCGGCCTTTGTCCATGTCCCTTGGCTTCTGGGAAGAACTGGGTGGTGCCCAGGCAGGGCTGGTGCCATCAGGAAGTGGGTGGCTGCTGAGGGGCCTGGGCTGGCGAGGGCCTGGGTGGGGAGTGCCTGGGCCGCCCCTGCCTTGGTTTCCACGTTTCCGTGTTGGTCTGGGGTGTGTAGAGAGATGGGCACTGCTCATCCGGAAGCCCCTCCTTGTGCGCTGCCATCCTGGGAGCCTCAGCCGCATCCGCTGTGGGGCAGGGGGCTTGAGGGAGGAGGAGAGAGACGGGCCATGCAGGACCCCTGGCTTGAGGCAGAGCCAATCTACCCTTTGCCCATTCACTGCTCTCAGTTCCCTGCCAGCCTCTCACTGTGTGACCTCAGACGGGCCCAGCCCCACAGCTTTCTTCCCGCAGCCCCTCCCTATGTCCATCCAGCCAGCCAGTTTCTCAGGCAGCAGCCCCACCTCGGCAGTCACTGTCCCAGGGAACGCTCAATGTTCCAAGGAAGGCTCTGCAGCCCCAGGGACCAGATGATGAGGCTGGCCCTGATGGAGCCTCGGGCCTGTGTCCTGCAGGAGGAGCCCGTGGCTGGTGCACAGACGGACAGGGCCAAGCTCTTCATGGTGGCCGTGAAGCAGGAGTTGAGCCAAGCCAACTTTGCCACCTTCACCCAGGCCCTGCAGGACTACAAGGGTTCCGATGACTTCGCCGCCCTGGCCGCCTGTCTCGGCCCCCTCTTTGCTGAGGACCCCAAGAAGCACAACCTGCTCCAAGGTGCCCTGGCTTGCAGAGGCCACCCACCCTGAGGGCAGTGCTGCCGCCGCGTGTGGGGTGGGGGCCATCTGGGTCCAAGGTGGTCTCTGTTCTCTAGAGAAAAAGGGGCAGATGGGGACAGACGCCCCTTCCTCTACAGGCTTCTACCAGTTTGTGCGGCCCCACCATAAGCAGCAGTTTGAGGAGGTCTGTATCCAGCTGACAGGACGAGGCTGTGGCTATCGGCCTGAGCACAGCATTCCCCGAAGGCAGCGGGCACAGCCGGTCCTGGACCCCACTGGTAAATGGGGCCCCAGGTGGGACCCTCAGACTCCTGCGTGGAAGGCAGTGTGGGCCAGAGTCCTGGGCTGCTTGGGGTGGGCATCCTCGGGCCCTGCTTGGCCCCGCCTCTCTGTTCCCCTATGGGAGTGATGGGGGCCTCCACCTCCACCACCAGCACCAGCAGCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATGCACAGNNNN
|
pathogenic
| 316,849 |
Variant at chromosome 20, position 63691818, gene RTEL1: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3']
|
GTACCGGCAGCAGGCGTCCAGGGCTGTGAACCAGGCCATCGGGCGAGTGATCCGGCACCGCCAGGACTACGGAGCTGTCTTCCTCTGTGACCACAGGTGCGTGCAGTCCGGTGGCAGGCGCGGCGCCAGGGGACACGCCCACACCCCACTGGGCCCCTGGACTCTCCTTCCCCACATGAGGCCCCGTCTCCTCCAGAGCCTCTCCGGCTACTCGGGGTCAGCGTGGGGCCCCTGCAGCAGATGAGGGTCTTCACTTCGGTGAACTGAACCCTTGAAGCGGCTGTGGGCAGGGCAGCAGGGCTATGGCCACCCCCCAGGTTCGCCTTTGCCGACGCAAGAGCCCAACTGCCCTCCTGGGTGCGTCCCCACGTCAGGGTGTATGACAACTTTGGCCATGTCATCCGAGACGTGGCCCAGTTCTTCCGTGTTGCCGAGCGAACTGTGAGTTCCTGCCCAGGGAGGGGATGAGGGTGTTGTCCCCAGAGGAGCCAGAAATGGGTCCACCCACCCCCATGGTTCTGCAGATGCCAGCGCCGGCCCCCCGGGCTACAGCACCCAGTGTGCGTGGAGAAGATGCTGTCAGCGAGGCCAAGTCGCCTGGCCCCTTCTTCTCCACCAGGAAAGCTAAGAGTCTGGACCTGCATGTCCCCAGCCTGAAGCAGAGGTCCTCAGGTGCGGACGGGCAGCGCTGGGTGGGCGGTGTGGGGGTGGCGGAGCGGGCGGCGTGGGGCGGGCAGCACCAGGCGCCCAGGGCGGAGGCGACTCACCTGGCTTTGTGCGCTTCCCCTCCCACCTCCAAAGGCTGCCTCTCCCTCCTAGGGCAGGGCCCCCACGGGCTGCAACCCTCCCCTACAGGCAGAGAACGCCCCAGGCAAGGATGCCCCCCGAGGCTGAGACTCCCCCCAATAGCAGGGAGGACACCCACAGGCAGGACCCCAAGTGCTGGGACTCTCCCCCAAGAGGGGCTTTGCCACAGGCAGGGACCCCAGCTGGGGCCCCCCGTGGGCTTCACTGCGCACTCGGGTGCCCCTGCAGGGTCACCAGCTGCCGGGGACCCCGAGAGTAGCCTGTGTGTGGAGTATGAGCAGGAGCCAGTTCCTGCCCGGCAGAGGCCCAGGGGGCTGCTGGCCGCCCTGGAGCACAGCGAACAGCGGGCGGGGAGCCCTGGCGAGGAGCAGGTACAGTTCCAGGGCCTTGGGATGGACACAGACCCTCTGTCTCCTGAGGCCAACCCGACCCCGCCCATCTGGCCTCAGGCACCTCCCCACACACCCCTGTAAATCCCCTGCCTGGCAGGCAGGCGGGCAAGCGGGCGGGGGATCCCAGCTGCCTGGCTGTCTGTGGGTCCTCCACCCCACCTCACCCACAGGCTGCTGGCTCCCAGGTGGTGCATGCCCTGGCCCTCCGCGGGTGCCCCCCACATCACTTTGGTTCTCTGGCGGGTCAGCTTGGCTCAGTGCACTCAAGGTCGGGTGCCCCTGCCACTGGCTGCGCTTGAGGCTGGCCTTTCTCCAGGAATGTGCTGCGGGTGGAACCCAGGTTCCTTCTTCCTTGGGGCCTTTTGCCCCAGAAGCCCATAATTCCTCAGGCCAACCCGAAATTTTCTCCCTGCTTCCTGCTGGGAGCCATTCCCCTCTTCCTGCCCATCCCTGCCCTTCAGGCCCCTGGAGTGAGCTCCAGGTGCAGGCACCAGGCACCTGTGTCCCCTTCCTGCCAGCCCCTCGCTGTGGTCGGACTGTCTTCCCTGGACCTGCTCTTACAAGTCACCACCTGCGAGCCTCATGAGCCGCTGGTGTGACTTGGACAGGACCAAGTTGTGGCACTGTCACCGGGGTGTGCTGTGCCCCCCTCCCCCGACCTCCATCTTGGCTCAGGGCTCCTTGGGACCATCTTCCCTGTGCGTCCAGGTGCTTTGGGACCCCAGAGTGTGTGGTTGGGGTCTGTGTGTGGTTGTGAGCTGTGTCCTCCTCAGGCCCACAGCTGCTCCACCCTGTCCCTCCTGTCTGAGAAGAGGCCGGCAGAAGAACCGCGAGGAGGGAGGAAGAAGATCCGGCTGGTCAGCCACCCGGTGCGTGAGCTGTCCCTGCACCTGTGCCGACCACCATAGACACGCATGGGAACGCAGCCGTGGGTGCCCCCAGCCACGGCTGGTCCCGATGGGACCAGGGAATCCACCCCCAGGAGCTGATGTCCAGGGCAGCTGTGATGCTGACGGCCAGGGGCTCAAGTGTGTGGTTTCTTCTGCAGGGGGCTCATGAGTCCCAGCTGGAATCAGGCCCCACCCTTGGGCAGGTTTGGCATGGGGCCTGCAGCACTGGGCTTGGCCCTGGCATTTCCCTCAAGTGTGGATGCACACCTGCCTCATGTGAGGGACACAGCCCATTCCTAGCCTTGGATCAAAGAACGGAGTTATAGCCGGAGCCAGGAAGCCCCCTGCCTGCTGGAAAACCCCAAGTGTGGCGGCCTTTGTCCATGTCCCTTGGCTTCTGGGAAGAACTGGGTGGTGCCCAGGCAGGGCTGGTGCCATCAGGAAGTGGGTGGCTGCTGAGGGGCCTGGGCTGGCGAGGGCCTGGGTGGGGAGTGCCTGGGCCGCCCCTGCCTTGGTTTCCACGTTTCCGTGTTGGTCTGGGGTGTGTAGAGAGATGGGCACTGCTCATCCGGAAGCCCCTCCTTGTGCGCTGCCATCCTGGGAGCCTCAGCCGCATCCGCTGTGGGGCAGGGGGCTTGAGGGAGGAGGAGAGAGACGGGCCATGCAGGACCCCTGGCTTGAGGCAGAGCCAATCTACCCTTTGCCCATTCACTGCTCTCAGTTCCCTGCCAGCCTCTCACTGTGTGACCTCAGACGGGCCCAGCCCCACAGCTTTCTTCCCGCAGCCCCTCCCTATGTCCATCCAGCCAGCCAGTTTCTCAGGCAGCAGCCCCACCTCGGCAGTCACTGTCCCAGGGAACGCTCAATGTTCCAAGGAAGGCTCTGCAGCCCCAGGGACCAGATGATGAGGCTGGCCCTGATGGAGCCTCGGGCCTGTGTCCTGCAGGAGGAGCCCGTGGCTGGTGCACAGACGGACAGGGCCAAGCTCTTCATGGTGGCCGTGAAGCAGGAGTTGAGCCAAGCCAACTTTGCCACCTTCACCCAGGCCCTGCAGGACTACAAGGGTTCCGATGACTTCGCCGCCCTGGCCGCCTGTCTCGGCCCCCTCTTTGCTGAGGACCCCAAGAAGCACAACCTGCTCCAAGGTGCCCTGGCTTGCAGAGGCCACCCACCCTGAGGGCAGTGCTGCCGCCGCGTGTGGGGTGGGGGCCATCTGGGTCCAAGGTGGTCTCTGTTCTCTAGAGAAAAAGGGGCAGATGGGGACAGACGCCCCTTCCTCTACAGGCTTCTACCAGTTTGTGCGGCCCCACCATAAGCAGCAGTTTGAGGAGGTCTGTATCCAGCTGACAGGACGAGGCTGTGGCTATCGGCCTGAGCACAGCATTCCCCGAAGGCAGCGGGCACAGCCGGTCCTGGACCCCACTGGTAAATGGGGCCCCAGGTGGGACCCTCAGACTCCTGCGTGGAAGGCAGTGTGGGCCAGAGTCCTGGGCTGCTTGGGGTGGGCATCCTCGGGCCCTGCTTGGCCCCGCCTCTCTGTTCCCCTATGGGAGTGATGGGGGCCTCCACCTCCACCACCAGCACCAGCAGCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATGCACAGCCCTGTCCCTGCCATAGCCCCGACCCCTAAGCACAGCCCTGTCCAACTGC
|
GTACCGGCAGCAGGCGTCCAGGGCTGTGAACCAGGCCATCGGGCGAGTGATCCGGCACCGCCAGGACTACGGAGCTGTCTTCCTCTGTGACCACAGGTGCGTGCAGTCCGGTGGCAGGCGCGGCGCCAGGGGACACGCCCACACCCCACTGGGCCCCTGGACTCTCCTTCCCCACATGAGGCCCCGTCTCCTCCAGAGCCTCTCCGGCTACTCGGGGTCAGCGTGGGGCCCCTGCAGCAGATGAGGGTCTTCACTTCGGTGAACTGAACCCTTGAAGCGGCTGTGGGCAGGGCAGCAGGGCTATGGCCACCCCCCAGGTTCGCCTTTGCCGACGCAAGAGCCCAACTGCCCTCCTGGGTGCGTCCCCACGTCAGGGTGTATGACAACTTTGGCCATGTCATCCGAGACGTGGCCCAGTTCTTCCGTGTTGCCGAGCGAACTGTGAGTTCCTGCCCAGGGAGGGGATGAGGGTGTTGTCCCCAGAGGAGCCAGAAATGGGTCCACCCACCCCCATGGTTCTGCAGATGCCAGCGCCGGCCCCCCGGGCTACAGCACCCAGTGTGCGTGGAGAAGATGCTGTCAGCGAGGCCAAGTCGCCTGGCCCCTTCTTCTCCACCAGGAAAGCTAAGAGTCTGGACCTGCATGTCCCCAGCCTGAAGCAGAGGTCCTCAGGTGCGGACGGGCAGCGCTGGGTGGGCGGTGTGGGGGTGGCGGAGCGGGCGGCGTGGGGCGGGCAGCACCAGGCGCCCAGGGCGGAGGCGACTCACCTGGCTTTGTGCGCTTCCCCTCCCACCTCCAAAGGCTGCCTCTCCCTCCTAGGGCAGGGCCCCCACGGGCTGCAACCCTCCCCTACAGGCAGAGAACGCCCCAGGCAAGGATGCCCCCCGAGGCTGAGACTCCCCCCAATAGCAGGGAGGACACCCACAGGCAGGACCCCAAGTGCTGGGACTCTCCCCCAAGAGGGGCTTTGCCACAGGCAGGGACCCCAGCTGGGGCCCCCCGTGGGCTTCACTGCGCACTCGGGTGCCCCTGCAGGGTCACCAGCTGCCGGGGACCCCGAGAGTAGCCTGTGTGTGGAGTATGAGCAGGAGCCAGTTCCTGCCCGGCAGAGGCCCAGGGGGCTGCTGGCCGCCCTGGAGCACAGCGAACAGCGGGCGGGGAGCCCTGGCGAGGAGCAGGTACAGTTCCAGGGCCTTGGGATGGACACAGACCCTCTGTCTCCTGAGGCCAACCCGACCCCGCCCATCTGGCCTCAGGCACCTCCCCACACACCCCTGTAAATCCCCTGCCTGGCAGGCAGGCGGGCAAGCGGGCGGGGGATCCCAGCTGCCTGGCTGTCTGTGGGTCCTCCACCCCACCTCACCCACAGGCTGCTGGCTCCCAGGTGGTGCATGCCCTGGCCCTCCGCGGGTGCCCCCCACATCACTTTGGTTCTCTGGCGGGTCAGCTTGGCTCAGTGCACTCAAGGTCGGGTGCCCCTGCCACTGGCTGCGCTTGAGGCTGGCCTTTCTCCAGGAATGTGCTGCGGGTGGAACCCAGGTTCCTTCTTCCTTGGGGCCTTTTGCCCCAGAAGCCCATAATTCCTCAGGCCAACCCGAAATTTTCTCCCTGCTTCCTGCTGGGAGCCATTCCCCTCTTCCTGCCCATCCCTGCCCTTCAGGCCCCTGGAGTGAGCTCCAGGTGCAGGCACCAGGCACCTGTGTCCCCTTCCTGCCAGCCCCTCGCTGTGGTCGGACTGTCTTCCCTGGACCTGCTCTTACAAGTCACCACCTGCGAGCCTCATGAGCCGCTGGTGTGACTTGGACAGGACCAAGTTGTGGCACTGTCACCGGGGTGTGCTGTGCCCCCCTCCCCCGACCTCCATCTTGGCTCAGGGCTCCTTGGGACCATCTTCCCTGTGCGTCCAGGTGCTTTGGGACCCCAGAGTGTGTGGTTGGGGTCTGTGTGTGGTTGTGAGCTGTGTCCTCCTCAGGCCCACAGCTGCTCCACCCTGTCCCTCCTGTCTGAGAAGAGGCCGGCAGAAGAACCGCGAGGAGGGAGGAAGAAGATCGGCTGGTCAGCCACCCGGTGCGTGAGCTGTCCCTGCACCTGTGCCGACCACCATAGACACGCATGGGAACGCAGCCGTGGGTGCCCCCAGCCACGGCTGGTCCCGATGGGACCAGGGAATCCACCCCCAGGAGCTGATGTCCAGGGCAGCTGTGATGCTGACGGCCAGGGGCTCAAGTGTGTGGTTTCTTCTGCAGGGGGCTCATGAGTCCCAGCTGGAATCAGGCCCCACCCTTGGGCAGGTTTGGCATGGGGCCTGCAGCACTGGGCTTGGCCCTGGCATTTCCCTCAAGTGTGGATGCACACCTGCCTCATGTGAGGGACACAGCCCATTCCTAGCCTTGGATCAAAGAACGGAGTTATAGCCGGAGCCAGGAAGCCCCCTGCCTGCTGGAAAACCCCAAGTGTGGCGGCCTTTGTCCATGTCCCTTGGCTTCTGGGAAGAACTGGGTGGTGCCCAGGCAGGGCTGGTGCCATCAGGAAGTGGGTGGCTGCTGAGGGGCCTGGGCTGGCGAGGGCCTGGGTGGGGAGTGCCTGGGCCGCCCCTGCCTTGGTTTCCACGTTTCCGTGTTGGTCTGGGGTGTGTAGAGAGATGGGCACTGCTCATCCGGAAGCCCCTCCTTGTGCGCTGCCATCCTGGGAGCCTCAGCCGCATCCGCTGTGGGGCAGGGGGCTTGAGGGAGGAGGAGAGAGACGGGCCATGCAGGACCCCTGGCTTGAGGCAGAGCCAATCTACCCTTTGCCCATTCACTGCTCTCAGTTCCCTGCCAGCCTCTCACTGTGTGACCTCAGACGGGCCCAGCCCCACAGCTTTCTTCCCGCAGCCCCTCCCTATGTCCATCCAGCCAGCCAGTTTCTCAGGCAGCAGCCCCACCTCGGCAGTCACTGTCCCAGGGAACGCTCAATGTTCCAAGGAAGGCTCTGCAGCCCCAGGGACCAGATGATGAGGCTGGCCCTGATGGAGCCTCGGGCCTGTGTCCTGCAGGAGGAGCCCGTGGCTGGTGCACAGACGGACAGGGCCAAGCTCTTCATGGTGGCCGTGAAGCAGGAGTTGAGCCAAGCCAACTTTGCCACCTTCACCCAGGCCCTGCAGGACTACAAGGGTTCCGATGACTTCGCCGCCCTGGCCGCCTGTCTCGGCCCCCTCTTTGCTGAGGACCCCAAGAAGCACAACCTGCTCCAAGGTGCCCTGGCTTGCAGAGGCCACCCACCCTGAGGGCAGTGCTGCCGCCGCGTGTGGGGTGGGGGCCATCTGGGTCCAAGGTGGTCTCTGTTCTCTAGAGAAAAAGGGGCAGATGGGGACAGACGCCCCTTCCTCTACAGGCTTCTACCAGTTTGTGCGGCCCCACCATAAGCAGCAGTTTGAGGAGGTCTGTATCCAGCTGACAGGACGAGGCTGTGGCTATCGGCCTGAGCACAGCATTCCCCGAAGGCAGCGGGCACAGCCGGTCCTGGACCCCACTGGTAAATGGGGCCCCAGGTGGGACCCTCAGACTCCTGCGTGGAAGGCAGTGTGGGCCAGAGTCCTGGGCTGCTTGGGGTGGGCATCCTCGGGCCCTGCTTGGCCCCGCCTCTCTGTTCCCCTATGGGAGTGATGGGGGCCTCCACCTCCACCACCAGCACCAGCAGCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATGCACAGCCCTGTCCCTGCCATAGCCCCGACCCCTAAGCACAGCCCTGTCCAACTGCN
|
pathogenic
| 316,855 |
Considering the genetic mutation at chromosome 20, position 63692959, impacting RTEL1: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Dyskeratosis_congenita', 'Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3']
|
CAGCGAACAGCGGGCGGGGAGCCCTGGCGAGGAGCAGGTACAGTTCCAGGGCCTTGGGATGGACACAGACCCTCTGTCTCCTGAGGCCAACCCGACCCCGCCCATCTGGCCTCAGGCACCTCCCCACACACCCCTGTAAATCCCCTGCCTGGCAGGCAGGCGGGCAAGCGGGCGGGGGATCCCAGCTGCCTGGCTGTCTGTGGGTCCTCCACCCCACCTCACCCACAGGCTGCTGGCTCCCAGGTGGTGCATGCCCTGGCCCTCCGCGGGTGCCCCCCACATCACTTTGGTTCTCTGGCGGGTCAGCTTGGCTCAGTGCACTCAAGGTCGGGTGCCCCTGCCACTGGCTGCGCTTGAGGCTGGCCTTTCTCCAGGAATGTGCTGCGGGTGGAACCCAGGTTCCTTCTTCCTTGGGGCCTTTTGCCCCAGAAGCCCATAATTCCTCAGGCCAACCCGAAATTTTCTCCCTGCTTCCTGCTGGGAGCCATTCCCCTCTTCCTGCCCATCCCTGCCCTTCAGGCCCCTGGAGTGAGCTCCAGGTGCAGGCACCAGGCACCTGTGTCCCCTTCCTGCCAGCCCCTCGCTGTGGTCGGACTGTCTTCCCTGGACCTGCTCTTACAAGTCACCACCTGCGAGCCTCATGAGCCGCTGGTGTGACTTGGACAGGACCAAGTTGTGGCACTGTCACCGGGGTGTGCTGTGCCCCCCTCCCCCGACCTCCATCTTGGCTCAGGGCTCCTTGGGACCATCTTCCCTGTGCGTCCAGGTGCTTTGGGACCCCAGAGTGTGTGGTTGGGGTCTGTGTGTGGTTGTGAGCTGTGTCCTCCTCAGGCCCACAGCTGCTCCACCCTGTCCCTCCTGTCTGAGAAGAGGCCGGCAGAAGAACCGCGAGGAGGGAGGAAGAAGATCCGGCTGGTCAGCCACCCGGTGCGTGAGCTGTCCCTGCACCTGTGCCGACCACCATAGACACGCATGGGAACGCAGCCGTGGGTGCCCCCAGCCACGGCTGGTCCCGATGGGACCAGGGAATCCACCCCCAGGAGCTGATGTCCAGGGCAGCTGTGATGCTGACGGCCAGGGGCTCAAGTGTGTGGTTTCTTCTGCAGGGGGCTCATGAGTCCCAGCTGGAATCAGGCCCCACCCTTGGGCAGGTTTGGCATGGGGCCTGCAGCACTGGGCTTGGCCCTGGCATTTCCCTCAAGTGTGGATGCACACCTGCCTCATGTGAGGGACACAGCCCATTCCTAGCCTTGGATCAAAGAACGGAGTTATAGCCGGAGCCAGGAAGCCCCCTGCCTGCTGGAAAACCCCAAGTGTGGCGGCCTTTGTCCATGTCCCTTGGCTTCTGGGAAGAACTGGGTGGTGCCCAGGCAGGGCTGGTGCCATCAGGAAGTGGGTGGCTGCTGAGGGGCCTGGGCTGGCGAGGGCCTGGGTGGGGAGTGCCTGGGCCGCCCCTGCCTTGGTTTCCACGTTTCCGTGTTGGTCTGGGGTGTGTAGAGAGATGGGCACTGCTCATCCGGAAGCCCCTCCTTGTGCGCTGCCATCCTGGGAGCCTCAGCCGCATCCGCTGTGGGGCAGGGGGCTTGAGGGAGGAGGAGAGAGACGGGCCATGCAGGACCCCTGGCTTGAGGCAGAGCCAATCTACCCTTTGCCCATTCACTGCTCTCAGTTCCCTGCCAGCCTCTCACTGTGTGACCTCAGACGGGCCCAGCCCCACAGCTTTCTTCCCGCAGCCCCTCCCTATGTCCATCCAGCCAGCCAGTTTCTCAGGCAGCAGCCCCACCTCGGCAGTCACTGTCCCAGGGAACGCTCAATGTTCCAAGGAAGGCTCTGCAGCCCCAGGGACCAGATGATGAGGCTGGCCCTGATGGAGCCTCGGGCCTGTGTCCTGCAGGAGGAGCCCGTGGCTGGTGCACAGACGGACAGGGCCAAGCTCTTCATGGTGGCCGTGAAGCAGGAGTTGAGCCAAGCCAACTTTGCCACCTTCACCCAGGCCCTGCAGGACTACAAGGGTTCCGATGACTTCGCCGCCCTGGCCGCCTGTCTCGGCCCCCTCTTTGCTGAGGACCCCAAGAAGCACAACCTGCTCCAAGGTGCCCTGGCTTGCAGAGGCCACCCACCCTGAGGGCAGTGCTGCCGCCGCGTGTGGGGTGGGGGCCATCTGGGTCCAAGGTGGTCTCTGTTCTCTAGAGAAAAAGGGGCAGATGGGGACAGACGCCCCTTCCTCTACAGGCTTCTACCAGTTTGTGCGGCCCCACCATAAGCAGCAGTTTGAGGAGGTCTGTATCCAGCTGACAGGACGAGGCTGTGGCTATCGGCCTGAGCACAGCATTCCCCGAAGGCAGCGGGCACAGCCGGTCCTGGACCCCACTGGTAAATGGGGCCCCAGGTGGGACCCTCAGACTCCTGCGTGGAAGGCAGTGTGGGCCAGAGTCCTGGGCTGCTTGGGGTGGGCATCCTCGGGCCCTGCTTGGCCCCGCCTCTCTGTTCCCCTATGGGAGTGATGGGGGCCTCCACCTCCACCACCAGCACCAGCAGCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATGCACAGCCCTGTCCCTGCCATAGCCCCGACCCCTAAGCACAGCCCTGTCCAACTGCCACACGTCCCCTGCCTCCCATGCATGGTCCTGGGGGGTCAACTGCACACGCCAGGGTCCTAGGGTCCTAGACCCCTGTCCTCCCTGTTTCTGCCTCTGTTTGGGGTGGAGTCCAAGTCTCCAGAGGCGGAAGCATCTGTGTTCGTGTGTTAATGAACAGCCCCTACAGAGTTCCCCTAGTTCACCCAGGGGGGAACCTAGCCTGTTGGGACGACCCCAGATCCCTTCTGGGCTTGGTACTCACTGGGATATCCTCATGCCTGCACCCAGCCTACGGCTCTGAGCTCCTGAGTGGGGCTTTGGCCTGCCCGCCACTGTTCCAGCCCCCATCCAGCAGGCTGGTGTCTCCTCTGATGCCCCCAGCACCCAGGCGTGTACCTGCCTGGGTTTTCCCGCCCTGGTCTGAGGTGGGTGAGGCCTGGCCTCCCTAGCCAGCCCTGCCCCCCCACCCCAGGGAACTTTCCAGATGCTCTCGACCAGCTTTGTGGCTCTACATCTCTTCATCAGGAAGAACGGCGCCGGATCCCAAGCTGACCGTGTCCACGGCTGCAGCCCAGCAGCTGGACCCCCAAGAGCACCTGAACCAGGGCAGGCCCCACCTGTCGCCCAGGCCACCCCCAACAGGTAGCTGACTCCTGAACCGTGTGCAGCCTACGACTTGGTGGGTCCCTCAGTGGCTTCACGAGGCTAACTCTTGAGTGTGGCCGGGGCTGCCCCTGTGGGGAGCCATCTCATGGTGGGGACTGCTCCCGGTTCTGCACCCCGCAGTTGTCCTGAGCAGCTCTCCAGGAGTTCCTGGAGGAAGGGCGGGCAGGGCGGTGGGACTCTCAGTCCTCCACCCCAGCGCCACTCTGAGCCATGCTACTCCCACACCAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGTGCCCAGAGCAGGGAAGCAGGGCCAGCACGCCGTGAGCGCCTACCTGGCTGATGCCCGCAGGGCCCTGGGGTCCGCGGGCTGTAGCCAACTCTTGGCAGCGCTGACAGCCTATAAGCAAGACGACGACCTCGACAAGGTGCTGGCTGTGTTGGCCGCCCTGACCACTGCAAAGCCAGAGGACTTCCCCCTGCTGCACAGCAAGTGGCCCTGGCGTGGGGAACAGCCGGTG
|
CAGCGAACAGCGGGCGGGGAGCCCTGGCGAGGAGCAGGTACAGTTCCAGGGCCTTGGGATGGACACAGACCCTCTGTCTCCTGAGGCCAACCCGACCCCGCCCATCTGGCCTCAGGCACCTCCCCACACACCCCTGTAAATCCCCTGCCTGGCAGGCAGGCGGGCAAGCGGGCGGGGGATCCCAGCTGCCTGGCTGTCTGTGGGTCCTCCACCCCACCTCACCCACAGGCTGCTGGCTCCCAGGTGGTGCATGCCCTGGCCCTCCGCGGGTGCCCCCCACATCACTTTGGTTCTCTGGCGGGTCAGCTTGGCTCAGTGCACTCAAGGTCGGGTGCCCCTGCCACTGGCTGCGCTTGAGGCTGGCCTTTCTCCAGGAATGTGCTGCGGGTGGAACCCAGGTTCCTTCTTCCTTGGGGCCTTTTGCCCCAGAAGCCCATAATTCCTCAGGCCAACCCGAAATTTTCTCCCTGCTTCCTGCTGGGAGCCATTCCCCTCTTCCTGCCCATCCCTGCCCTTCAGGCCCCTGGAGTGAGCTCCAGGTGCAGGCACCAGGCACCTGTGTCCCCTTCCTGCCAGCCCCTCGCTGTGGTCGGACTGTCTTCCCTGGACCTGCTCTTACAAGTCACCACCTGCGAGCCTCATGAGCCGCTGGTGTGACTTGGACAGGACCAAGTTGTGGCACTGTCACCGGGGTGTGCTGTGCCCCCCTCCCCCGACCTCCATCTTGGCTCAGGGCTCCTTGGGACCATCTTCCCTGTGCGTCCAGGTGCTTTGGGACCCCAGAGTGTGTGGTTGGGGTCTGTGTGTGGTTGTGAGCTGTGTCCTCCTCAGGCCCACAGCTGCTCCACCCTGTCCCTCCTGTCTGAGAAGAGGCCGGCAGAAGAACCGCGAGGAGGGAGGAAGAAGATCCGGCTGGTCAGCCACCCGGTGCGTGAGCTGTCCCTGCACCTGTGCCGACCACCATAGACACGCATGGGAACGCAGCCGTGGGTGCCCCCAGCCACGGCTGGTCCCGATGGGACCAGGGAATCCACCCCCAGGAGCTGATGTCCAGGGCAGCTGTGATGCTGACGGCCAGGGGCTCAAGTGTGTGGTTTCTTCTGCAGGGGGCTCATGAGTCCCAGCTGGAATCAGGCCCCACCCTTGGGCAGGTTTGGCATGGGGCCTGCAGCACTGGGCTTGGCCCTGGCATTTCCCTCAAGTGTGGATGCACACCTGCCTCATGTGAGGGACACAGCCCATTCCTAGCCTTGGATCAAAGAACGGAGTTATAGCCGGAGCCAGGAAGCCCCCTGCCTGCTGGAAAACCCCAAGTGTGGCGGCCTTTGTCCATGTCCCTTGGCTTCTGGGAAGAACTGGGTGGTGCCCAGGCAGGGCTGGTGCCATCAGGAAGTGGGTGGCTGCTGAGGGGCCTGGGCTGGCGAGGGCCTGGGTGGGGAGTGCCTGGGCCGCCCCTGCCTTGGTTTCCACGTTTCCGTGTTGGTCTGGGGTGTGTAGAGAGATGGGCACTGCTCATCCGGAAGCCCCTCCTTGTGCGCTGCCATCCTGGGAGCCTCAGCCGCATCCGCTGTGGGGCAGGGGGCTTGAGGGAGGAGGAGAGAGACGGGCCATGCAGGACCCCTGGCTTGAGGCAGAGCCAATCTACCCTTTGCCCATTCACTGCTCTCAGTTCCCTGCCAGCCTCTCACTGTGTGACCTCAGACGGGCCCAGCCCCACAGCTTTCTTCCCGCAGCCCCTCCCTATGTCCATCCAGCCAGCCAGTTTCTCAGGCAGCAGCCCCACCTCGGCAGTCACTGTCCCAGGGAACGCTCAATGTTCCAAGGAAGGCTCTGCAGCCCCAGGGACCAGATGATGAGGCTGGCCCTGATGGAGCCTCGGGCCTGTGTCCTGCAGGAGGAGCCCGTGGCTGGTGCACAGACGGACAGGGCCAAGCTCTTCATGGTGGCCGTGAAGCAGGAGTTGAGCCAAGCCAACTTTGCCACCTTCACCCAGGCCCTGCAGGACTACAAGGGTTCCGATGACTTCGCCGCCCTGGCCGCCTGTCTCGGCCCCTCTTTGCTGAGGACCCCAAGAAGCACAACCTGCTCCAAGGTGCCCTGGCTTGCAGAGGCCACCCACCCTGAGGGCAGTGCTGCCGCCGCGTGTGGGGTGGGGGCCATCTGGGTCCAAGGTGGTCTCTGTTCTCTAGAGAAAAAGGGGCAGATGGGGACAGACGCCCCTTCCTCTACAGGCTTCTACCAGTTTGTGCGGCCCCACCATAAGCAGCAGTTTGAGGAGGTCTGTATCCAGCTGACAGGACGAGGCTGTGGCTATCGGCCTGAGCACAGCATTCCCCGAAGGCAGCGGGCACAGCCGGTCCTGGACCCCACTGGTAAATGGGGCCCCAGGTGGGACCCTCAGACTCCTGCGTGGAAGGCAGTGTGGGCCAGAGTCCTGGGCTGCTTGGGGTGGGCATCCTCGGGCCCTGCTTGGCCCCGCCTCTCTGTTCCCCTATGGGAGTGATGGGGGCCTCCACCTCCACCACCAGCACCAGCAGCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATGCACAGCCCTGTCCCTGCCATAGCCCCGACCCCTAAGCACAGCCCTGTCCAACTGCCACACGTCCCCTGCCTCCCATGCATGGTCCTGGGGGGTCAACTGCACACGCCAGGGTCCTAGGGTCCTAGACCCCTGTCCTCCCTGTTTCTGCCTCTGTTTGGGGTGGAGTCCAAGTCTCCAGAGGCGGAAGCATCTGTGTTCGTGTGTTAATGAACAGCCCCTACAGAGTTCCCCTAGTTCACCCAGGGGGGAACCTAGCCTGTTGGGACGACCCCAGATCCCTTCTGGGCTTGGTACTCACTGGGATATCCTCATGCCTGCACCCAGCCTACGGCTCTGAGCTCCTGAGTGGGGCTTTGGCCTGCCCGCCACTGTTCCAGCCCCCATCCAGCAGGCTGGTGTCTCCTCTGATGCCCCCAGCACCCAGGCGTGTACCTGCCTGGGTTTTCCCGCCCTGGTCTGAGGTGGGTGAGGCCTGGCCTCCCTAGCCAGCCCTGCCCCCCCACCCCAGGGAACTTTCCAGATGCTCTCGACCAGCTTTGTGGCTCTACATCTCTTCATCAGGAAGAACGGCGCCGGATCCCAAGCTGACCGTGTCCACGGCTGCAGCCCAGCAGCTGGACCCCCAAGAGCACCTGAACCAGGGCAGGCCCCACCTGTCGCCCAGGCCACCCCCAACAGGTAGCTGACTCCTGAACCGTGTGCAGCCTACGACTTGGTGGGTCCCTCAGTGGCTTCACGAGGCTAACTCTTGAGTGTGGCCGGGGCTGCCCCTGTGGGGAGCCATCTCATGGTGGGGACTGCTCCCGGTTCTGCACCCCGCAGTTGTCCTGAGCAGCTCTCCAGGAGTTCCTGGAGGAAGGGCGGGCAGGGCGGTGGGACTCTCAGTCCTCCACCCCAGCGCCACTCTGAGCCATGCTACTCCCACACCAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGTGCCCAGAGCAGGGAAGCAGGGCCAGCACGCCGTGAGCGCCTACCTGGCTGATGCCCGCAGGGCCCTGGGGTCCGCGGGCTGTAGCCAACTCTTGGCAGCGCTGACAGCCTATAAGCAAGACGACGACCTCGACAAGGTGCTGGCTGTGTTGGCCGCCCTGACCACTGCAAAGCCAGAGGACTTCCCCCTGCTGCACAGCAAGTGGCCCTGGCGTGGGGAACAGCCGGTGN
|
pathogenic
| 316,888 |
The chromosome 20, position 63693243 genetic variant in gene RTEL1: benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3', 'RTEL1-related_disorder']
|
CTTTGGTTCTCTGGCGGGTCAGCTTGGCTCAGTGCACTCAAGGTCGGGTGCCCCTGCCACTGGCTGCGCTTGAGGCTGGCCTTTCTCCAGGAATGTGCTGCGGGTGGAACCCAGGTTCCTTCTTCCTTGGGGCCTTTTGCCCCAGAAGCCCATAATTCCTCAGGCCAACCCGAAATTTTCTCCCTGCTTCCTGCTGGGAGCCATTCCCCTCTTCCTGCCCATCCCTGCCCTTCAGGCCCCTGGAGTGAGCTCCAGGTGCAGGCACCAGGCACCTGTGTCCCCTTCCTGCCAGCCCCTCGCTGTGGTCGGACTGTCTTCCCTGGACCTGCTCTTACAAGTCACCACCTGCGAGCCTCATGAGCCGCTGGTGTGACTTGGACAGGACCAAGTTGTGGCACTGTCACCGGGGTGTGCTGTGCCCCCCTCCCCCGACCTCCATCTTGGCTCAGGGCTCCTTGGGACCATCTTCCCTGTGCGTCCAGGTGCTTTGGGACCCCAGAGTGTGTGGTTGGGGTCTGTGTGTGGTTGTGAGCTGTGTCCTCCTCAGGCCCACAGCTGCTCCACCCTGTCCCTCCTGTCTGAGAAGAGGCCGGCAGAAGAACCGCGAGGAGGGAGGAAGAAGATCCGGCTGGTCAGCCACCCGGTGCGTGAGCTGTCCCTGCACCTGTGCCGACCACCATAGACACGCATGGGAACGCAGCCGTGGGTGCCCCCAGCCACGGCTGGTCCCGATGGGACCAGGGAATCCACCCCCAGGAGCTGATGTCCAGGGCAGCTGTGATGCTGACGGCCAGGGGCTCAAGTGTGTGGTTTCTTCTGCAGGGGGCTCATGAGTCCCAGCTGGAATCAGGCCCCACCCTTGGGCAGGTTTGGCATGGGGCCTGCAGCACTGGGCTTGGCCCTGGCATTTCCCTCAAGTGTGGATGCACACCTGCCTCATGTGAGGGACACAGCCCATTCCTAGCCTTGGATCAAAGAACGGAGTTATAGCCGGAGCCAGGAAGCCCCCTGCCTGCTGGAAAACCCCAAGTGTGGCGGCCTTTGTCCATGTCCCTTGGCTTCTGGGAAGAACTGGGTGGTGCCCAGGCAGGGCTGGTGCCATCAGGAAGTGGGTGGCTGCTGAGGGGCCTGGGCTGGCGAGGGCCTGGGTGGGGAGTGCCTGGGCCGCCCCTGCCTTGGTTTCCACGTTTCCGTGTTGGTCTGGGGTGTGTAGAGAGATGGGCACTGCTCATCCGGAAGCCCCTCCTTGTGCGCTGCCATCCTGGGAGCCTCAGCCGCATCCGCTGTGGGGCAGGGGGCTTGAGGGAGGAGGAGAGAGACGGGCCATGCAGGACCCCTGGCTTGAGGCAGAGCCAATCTACCCTTTGCCCATTCACTGCTCTCAGTTCCCTGCCAGCCTCTCACTGTGTGACCTCAGACGGGCCCAGCCCCACAGCTTTCTTCCCGCAGCCCCTCCCTATGTCCATCCAGCCAGCCAGTTTCTCAGGCAGCAGCCCCACCTCGGCAGTCACTGTCCCAGGGAACGCTCAATGTTCCAAGGAAGGCTCTGCAGCCCCAGGGACCAGATGATGAGGCTGGCCCTGATGGAGCCTCGGGCCTGTGTCCTGCAGGAGGAGCCCGTGGCTGGTGCACAGACGGACAGGGCCAAGCTCTTCATGGTGGCCGTGAAGCAGGAGTTGAGCCAAGCCAACTTTGCCACCTTCACCCAGGCCCTGCAGGACTACAAGGGTTCCGATGACTTCGCCGCCCTGGCCGCCTGTCTCGGCCCCCTCTTTGCTGAGGACCCCAAGAAGCACAACCTGCTCCAAGGTGCCCTGGCTTGCAGAGGCCACCCACCCTGAGGGCAGTGCTGCCGCCGCGTGTGGGGTGGGGGCCATCTGGGTCCAAGGTGGTCTCTGTTCTCTAGAGAAAAAGGGGCAGATGGGGACAGACGCCCCTTCCTCTACAGGCTTCTACCAGTTTGTGCGGCCCCACCATAAGCAGCAGTTTGAGGAGGTCTGTATCCAGCTGACAGGACGAGGCTGTGGCTATCGGCCTGAGCACAGCATTCCCCGAAGGCAGCGGGCACAGCCGGTCCTGGACCCCACTGGTAAATGGGGCCCCAGGTGGGACCCTCAGACTCCTGCGTGGAAGGCAGTGTGGGCCAGAGTCCTGGGCTGCTTGGGGTGGGCATCCTCGGGCCCTGCTTGGCCCCGCCTCTCTGTTCCCCTATGGGAGTGATGGGGGCCTCCACCTCCACCACCAGCACCAGCAGCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATGCACAGCCCTGTCCCTGCCATAGCCCCGACCCCTAAGCACAGCCCTGTCCAACTGCCACACGTCCCCTGCCTCCCATGCATGGTCCTGGGGGGTCAACTGCACACGCCAGGGTCCTAGGGTCCTAGACCCCTGTCCTCCCTGTTTCTGCCTCTGTTTGGGGTGGAGTCCAAGTCTCCAGAGGCGGAAGCATCTGTGTTCGTGTGTTAATGAACAGCCCCTACAGAGTTCCCCTAGTTCACCCAGGGGGGAACCTAGCCTGTTGGGACGACCCCAGATCCCTTCTGGGCTTGGTACTCACTGGGATATCCTCATGCCTGCACCCAGCCTACGGCTCTGAGCTCCTGAGTGGGGCTTTGGCCTGCCCGCCACTGTTCCAGCCCCCATCCAGCAGGCTGGTGTCTCCTCTGATGCCCCCAGCACCCAGGCGTGTACCTGCCTGGGTTTTCCCGCCCTGGTCTGAGGTGGGTGAGGCCTGGCCTCCCTAGCCAGCCCTGCCCCCCCACCCCAGGGAACTTTCCAGATGCTCTCGACCAGCTTTGTGGCTCTACATCTCTTCATCAGGAAGAACGGCGCCGGATCCCAAGCTGACCGTGTCCACGGCTGCAGCCCAGCAGCTGGACCCCCAAGAGCACCTGAACCAGGGCAGGCCCCACCTGTCGCCCAGGCCACCCCCAACAGGTAGCTGACTCCTGAACCGTGTGCAGCCTACGACTTGGTGGGTCCCTCAGTGGCTTCACGAGGCTAACTCTTGAGTGTGGCCGGGGCTGCCCCTGTGGGGAGCCATCTCATGGTGGGGACTGCTCCCGGTTCTGCACCCCGCAGTTGTCCTGAGCAGCTCTCCAGGAGTTCCTGGAGGAAGGGCGGGCAGGGCGGTGGGACTCTCAGTCCTCCACCCCAGCGCCACTCTGAGCCATGCTACTCCCACACCAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGTGCCCAGAGCAGGGAAGCAGGGCCAGCACGCCGTGAGCGCCTACCTGGCTGATGCCCGCAGGGCCCTGGGGTCCGCGGGCTGTAGCCAACTCTTGGCAGCGCTGACAGCCTATAAGCAAGACGACGACCTCGACAAGGTGCTGGCTGTGTTGGCCGCCCTGACCACTGCAAAGCCAGAGGACTTCCCCCTGCTGCACAGCAAGTGGCCCTGGCGTGGGGAACAGCCGGTGGGGTGGGGGGCAGGGGACAAAATGGGGGCTGTGCCGGGTCTGATTGAAGCTCCCCGCAGGGTTCAGCATGTTTGTGCGTCCACACCACAAGCAGCGCTTCTCACAGACGTGCACAGACCTGACCGGCCGGCCCTACCCGGGCATGGAGCCACCGGGACCCCAGGAGGAGAGGCTTGCCGTGCCTCCTGTGCTTACCCACAGGGCTCCCCAACCAGGTAGGGCACCTGCCTGGCTGCTCCTGGCAGCGCCCCAACCGCACGCAGCCCTGGGAGTGAGCAGCAAAG
|
CTTTGGTTCTCTGGCGGGTCAGCTTGGCTCAGTGCACTCAAGGTCGGGTGCCCCTGCCACTGGCTGCGCTTGAGGCTGGCCTTTCTCCAGGAATGTGCTGCGGGTGGAACCCAGGTTCCTTCTTCCTTGGGGCCTTTTGCCCCAGAAGCCCATAATTCCTCAGGCCAACCCGAAATTTTCTCCCTGCTTCCTGCTGGGAGCCATTCCCCTCTTCCTGCCCATCCCTGCCCTTCAGGCCCCTGGAGTGAGCTCCAGGTGCAGGCACCAGGCACCTGTGTCCCCTTCCTGCCAGCCCCTCGCTGTGGTCGGACTGTCTTCCCTGGACCTGCTCTTACAAGTCACCACCTGCGAGCCTCATGAGCCGCTGGTGTGACTTGGACAGGACCAAGTTGTGGCACTGTCACCGGGGTGTGCTGTGCCCCCCTCCCCCGACCTCCATCTTGGCTCAGGGCTCCTTGGGACCATCTTCCCTGTGCGTCCAGGTGCTTTGGGACCCCAGAGTGTGTGGTTGGGGTCTGTGTGTGGTTGTGAGCTGTGTCCTCCTCAGGCCCACAGCTGCTCCACCCTGTCCCTCCTGTCTGAGAAGAGGCCGGCAGAAGAACCGCGAGGAGGGAGGAAGAAGATCCGGCTGGTCAGCCACCCGGTGCGTGAGCTGTCCCTGCACCTGTGCCGACCACCATAGACACGCATGGGAACGCAGCCGTGGGTGCCCCCAGCCACGGCTGGTCCCGATGGGACCAGGGAATCCACCCCCAGGAGCTGATGTCCAGGGCAGCTGTGATGCTGACGGCCAGGGGCTCAAGTGTGTGGTTTCTTCTGCAGGGGGCTCATGAGTCCCAGCTGGAATCAGGCCCCACCCTTGGGCAGGTTTGGCATGGGGCCTGCAGCACTGGGCTTGGCCCTGGCATTTCCCTCAAGTGTGGATGCACACCTGCCTCATGTGAGGGACACAGCCCATTCCTAGCCTTGGATCAAAGAACGGAGTTATAGCCGGAGCCAGGAAGCCCCCTGCCTGCTGGAAAACCCCAAGTGTGGCGGCCTTTGTCCATGTCCCTTGGCTTCTGGGAAGAACTGGGTGGTGCCCAGGCAGGGCTGGTGCCATCAGGAAGTGGGTGGCTGCTGAGGGGCCTGGGCTGGCGAGGGCCTGGGTGGGGAGTGCCTGGGCCGCCCCTGCCTTGGTTTCCACGTTTCCGTGTTGGTCTGGGGTGTGTAGAGAGATGGGCACTGCTCATCCGGAAGCCCCTCCTTGTGCGCTGCCATCCTGGGAGCCTCAGCCGCATCCGCTGTGGGGCAGGGGGCTTGAGGGAGGAGGAGAGAGACGGGCCATGCAGGACCCCTGGCTTGAGGCAGAGCCAATCTACCCTTTGCCCATTCACTGCTCTCAGTTCCCTGCCAGCCTCTCACTGTGTGACCTCAGACGGGCCCAGCCCCACAGCTTTCTTCCCGCAGCCCCTCCCTATGTCCATCCAGCCAGCCAGTTTCTCAGGCAGCAGCCCCACCTCGGCAGTCACTGTCCCAGGGAACGCTCAATGTTCCAAGGAAGGCTCTGCAGCCCCAGGGACCAGATGATGAGGCTGGCCCTGATGGAGCCTCGGGCCTGTGTCCTGCAGGAGGAGCCCGTGGCTGGTGCACAGACGGACAGGGCCAAGCTCTTCATGGTGGCCGTGAAGCAGGAGTTGAGCCAAGCCAACTTTGCCACCTTCACCCAGGCCCTGCAGGACTACAAGGGTTCCGATGACTTCGCCGCCCTGGCCGCCTGTCTCGGCCCCCTCTTTGCTGAGGACCCCAAGAAGCACAACCTGCTCCAAGGTGCCCTGGCTTGCAGAGGCCACCCACCCTGAGGGCAGTGCTGCCGCCGCGTGTGGGGTGGGGGCCATCTGGGTCCAAGGTGGTCTCTGTTCTCTAGAGAAAAAGGGGCAGATGGGGACAGACGCCCCTTCCTCTACAGGCTTCTACCAGTTTGTGCGGCCCCACCATAAGCAGCAGTTTGAGGAGGTCTGTATCCAGCTGACAGGACGAGGCTGTGGCTATCGGCCTGAGCACAGCATTCCCGAAGGCAGCGGGCACAGCCGGTCCTGGACCCCACTGGTAAATGGGGCCCCAGGTGGGACCCTCAGACTCCTGCGTGGAAGGCAGTGTGGGCCAGAGTCCTGGGCTGCTTGGGGTGGGCATCCTCGGGCCCTGCTTGGCCCCGCCTCTCTGTTCCCCTATGGGAGTGATGGGGGCCTCCACCTCCACCACCAGCACCAGCAGCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATGCACAGCCCTGTCCCTGCCATAGCCCCGACCCCTAAGCACAGCCCTGTCCAACTGCCACACGTCCCCTGCCTCCCATGCATGGTCCTGGGGGGTCAACTGCACACGCCAGGGTCCTAGGGTCCTAGACCCCTGTCCTCCCTGTTTCTGCCTCTGTTTGGGGTGGAGTCCAAGTCTCCAGAGGCGGAAGCATCTGTGTTCGTGTGTTAATGAACAGCCCCTACAGAGTTCCCCTAGTTCACCCAGGGGGGAACCTAGCCTGTTGGGACGACCCCAGATCCCTTCTGGGCTTGGTACTCACTGGGATATCCTCATGCCTGCACCCAGCCTACGGCTCTGAGCTCCTGAGTGGGGCTTTGGCCTGCCCGCCACTGTTCCAGCCCCCATCCAGCAGGCTGGTGTCTCCTCTGATGCCCCCAGCACCCAGGCGTGTACCTGCCTGGGTTTTCCCGCCCTGGTCTGAGGTGGGTGAGGCCTGGCCTCCCTAGCCAGCCCTGCCCCCCCACCCCAGGGAACTTTCCAGATGCTCTCGACCAGCTTTGTGGCTCTACATCTCTTCATCAGGAAGAACGGCGCCGGATCCCAAGCTGACCGTGTCCACGGCTGCAGCCCAGCAGCTGGACCCCCAAGAGCACCTGAACCAGGGCAGGCCCCACCTGTCGCCCAGGCCACCCCCAACAGGTAGCTGACTCCTGAACCGTGTGCAGCCTACGACTTGGTGGGTCCCTCAGTGGCTTCACGAGGCTAACTCTTGAGTGTGGCCGGGGCTGCCCCTGTGGGGAGCCATCTCATGGTGGGGACTGCTCCCGGTTCTGCACCCCGCAGTTGTCCTGAGCAGCTCTCCAGGAGTTCCTGGAGGAAGGGCGGGCAGGGCGGTGGGACTCTCAGTCCTCCACCCCAGCGCCACTCTGAGCCATGCTACTCCCACACCAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGTGCCCAGAGCAGGGAAGCAGGGCCAGCACGCCGTGAGCGCCTACCTGGCTGATGCCCGCAGGGCCCTGGGGTCCGCGGGCTGTAGCCAACTCTTGGCAGCGCTGACAGCCTATAAGCAAGACGACGACCTCGACAAGGTGCTGGCTGTGTTGGCCGCCCTGACCACTGCAAAGCCAGAGGACTTCCCCCTGCTGCACAGCAAGTGGCCCTGGCGTGGGGAACAGCCGGTGGGGTGGGGGGCAGGGGACAAAATGGGGGCTGTGCCGGGTCTGATTGAAGCTCCCCGCAGGGTTCAGCATGTTTGTGCGTCCACACCACAAGCAGCGCTTCTCACAGACGTGCACAGACCTGACCGGCCGGCCCTACCCGGGCATGGAGCCACCGGGACCCCAGGAGGAGAGGCTTGCCGTGCCTCCTGTGCTTACCCACAGGGCTCCCCAACCAGGTAGGGCACCTGCCTGGCTGCTCCTGGCAGCGCCCCAACCGCACGCAGCCCTGGGAGTGAGCAGCAAAGN
|
pathogenic
| 316,929 |
Clinical significance of chromosome 20, position 63694361, gene RTEL1: benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
GCTGAGGGGCCTGGGCTGGCGAGGGCCTGGGTGGGGAGTGCCTGGGCCGCCCCTGCCTTGGTTTCCACGTTTCCGTGTTGGTCTGGGGTGTGTAGAGAGATGGGCACTGCTCATCCGGAAGCCCCTCCTTGTGCGCTGCCATCCTGGGAGCCTCAGCCGCATCCGCTGTGGGGCAGGGGGCTTGAGGGAGGAGGAGAGAGACGGGCCATGCAGGACCCCTGGCTTGAGGCAGAGCCAATCTACCCTTTGCCCATTCACTGCTCTCAGTTCCCTGCCAGCCTCTCACTGTGTGACCTCAGACGGGCCCAGCCCCACAGCTTTCTTCCCGCAGCCCCTCCCTATGTCCATCCAGCCAGCCAGTTTCTCAGGCAGCAGCCCCACCTCGGCAGTCACTGTCCCAGGGAACGCTCAATGTTCCAAGGAAGGCTCTGCAGCCCCAGGGACCAGATGATGAGGCTGGCCCTGATGGAGCCTCGGGCCTGTGTCCTGCAGGAGGAGCCCGTGGCTGGTGCACAGACGGACAGGGCCAAGCTCTTCATGGTGGCCGTGAAGCAGGAGTTGAGCCAAGCCAACTTTGCCACCTTCACCCAGGCCCTGCAGGACTACAAGGGTTCCGATGACTTCGCCGCCCTGGCCGCCTGTCTCGGCCCCCTCTTTGCTGAGGACCCCAAGAAGCACAACCTGCTCCAAGGTGCCCTGGCTTGCAGAGGCCACCCACCCTGAGGGCAGTGCTGCCGCCGCGTGTGGGGTGGGGGCCATCTGGGTCCAAGGTGGTCTCTGTTCTCTAGAGAAAAAGGGGCAGATGGGGACAGACGCCCCTTCCTCTACAGGCTTCTACCAGTTTGTGCGGCCCCACCATAAGCAGCAGTTTGAGGAGGTCTGTATCCAGCTGACAGGACGAGGCTGTGGCTATCGGCCTGAGCACAGCATTCCCCGAAGGCAGCGGGCACAGCCGGTCCTGGACCCCACTGGTAAATGGGGCCCCAGGTGGGACCCTCAGACTCCTGCGTGGAAGGCAGTGTGGGCCAGAGTCCTGGGCTGCTTGGGGTGGGCATCCTCGGGCCCTGCTTGGCCCCGCCTCTCTGTTCCCCTATGGGAGTGATGGGGGCCTCCACCTCCACCACCAGCACCAGCAGCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATGCACAGCCCTGTCCCTGCCATAGCCCCGACCCCTAAGCACAGCCCTGTCCAACTGCCACACGTCCCCTGCCTCCCATGCATGGTCCTGGGGGGTCAACTGCACACGCCAGGGTCCTAGGGTCCTAGACCCCTGTCCTCCCTGTTTCTGCCTCTGTTTGGGGTGGAGTCCAAGTCTCCAGAGGCGGAAGCATCTGTGTTCGTGTGTTAATGAACAGCCCCTACAGAGTTCCCCTAGTTCACCCAGGGGGGAACCTAGCCTGTTGGGACGACCCCAGATCCCTTCTGGGCTTGGTACTCACTGGGATATCCTCATGCCTGCACCCAGCCTACGGCTCTGAGCTCCTGAGTGGGGCTTTGGCCTGCCCGCCACTGTTCCAGCCCCCATCCAGCAGGCTGGTGTCTCCTCTGATGCCCCCAGCACCCAGGCGTGTACCTGCCTGGGTTTTCCCGCCCTGGTCTGAGGTGGGTGAGGCCTGGCCTCCCTAGCCAGCCCTGCCCCCCCACCCCAGGGAACTTTCCAGATGCTCTCGACCAGCTTTGTGGCTCTACATCTCTTCATCAGGAAGAACGGCGCCGGATCCCAAGCTGACCGTGTCCACGGCTGCAGCCCAGCAGCTGGACCCCCAAGAGCACCTGAACCAGGGCAGGCCCCACCTGTCGCCCAGGCCACCCCCAACAGGTAGCTGACTCCTGAACCGTGTGCAGCCTACGACTTGGTGGGTCCCTCAGTGGCTTCACGAGGCTAACTCTTGAGTGTGGCCGGGGCTGCCCCTGTGGGGAGCCATCTCATGGTGGGGACTGCTCCCGGTTCTGCACCCCGCAGTTGTCCTGAGCAGCTCTCCAGGAGTTCCTGGAGGAAGGGCGGGCAGGGCGGTGGGACTCTCAGTCCTCCACCCCAGCGCCACTCTGAGCCATGCTACTCCCACACCAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGTGCCCAGAGCAGGGAAGCAGGGCCAGCACGCCGTGAGCGCCTACCTGGCTGATGCCCGCAGGGCCCTGGGGTCCGCGGGCTGTAGCCAACTCTTGGCAGCGCTGACAGCCTATAAGCAAGACGACGACCTCGACAAGGTGCTGGCTGTGTTGGCCGCCCTGACCACTGCAAAGCCAGAGGACTTCCCCCTGCTGCACAGCAAGTGGCCCTGGCGTGGGGAACAGCCGGTGGGGTGGGGGGCAGGGGACAAAATGGGGGCTGTGCCGGGTCTGATTGAAGCTCCCCGCAGGGTTCAGCATGTTTGTGCGTCCACACCACAAGCAGCGCTTCTCACAGACGTGCACAGACCTGACCGGCCGGCCCTACCCGGGCATGGAGCCACCGGGACCCCAGGAGGAGAGGCTTGCCGTGCCTCCTGTGCTTACCCACAGGGCTCCCCAACCAGGTAGGGCACCTGCCTGGCTGCTCCTGGCAGCGCCCCAACCGCACGCAGCCCTGGGAGTGAGCAGCAAAGCCCCAGGCCCCCCTCAGACTCAAGTCTCTGTCTCCAGGCCCCTCACGGTCCGAGAAGACCGGGAAGACCCAGAGCAAGATCTCGTCCTTCCTTAGACAGAGGCCAGCAGGGACTGTGGGGGCGGGCGGTGAGGATGCAGGTCCCAGCCAGTCCTCAGGACCTCCCCACGGGCCTGCAGCATCTGAGTGGGGTGAGCCTCATGGGAGAGACATCGCTGGGCAGCAGGCCACGGGAGCTCCGGGCGGGCCCCTCTCAGCAGGCTGTGTGTGCCAGGGCTGTGGGGCAGAGGACGTGGTGCCCTTCCAGTGCCCTGCCTGTGACTTCCAGCGCTGCCAAGCCTGCTGGCAACGGCACCTTCAGGTTGGTGCCTGGCCACTACAGTTCCTGCTGGGTGTAGCCCCAGGTGATGGGCTGAGGGGGAAAGGGCAGGCCCTTGTCCTGGTGGCAACGCCTGGCAGACGTGTGCAGTGGGCCGGTTGTCTCACAGGCCTCTAGGATGTGCCCAGCCTGCCACACCGCCTCCAGGAAGCAGAGCGTCATGCAGGTCTTCTGGCCAGAGCCCCAGTGAGTGCCCACGGAGGCCCCCAGCACACCCAACGTGGCTTGATCACCTGCCTGTCCAGCTCTGGTGGGCCAAGAACCCACCCAACAGAATAGGCCAGCCCATGCCAGCCGGCTTGGCCCGCTGCAGGCCTCAGGCAGGCGGGGCCCATGGTTGGTCCCTGCGGTGGGACCGGATCTGGGCCTGCCTCTGAGAAGCCCTGAGCTACCTTGGGGTCTGGGGTGGGTTTCTGGGAAAGTGCTTCCCCAGAACTTCCCTGGCTCCTGGCCTGTGAGTGGTGCCACAGGGGCACCCCAGCTGAGCCCCTCACCGGGAAGGAGGAGACCCCCGTGGGCACGTGTCCACTTTTAATCAGGGGACAGGGCTCTCTAATAAAGCTGCTGGCAGTGCCCAGGACGGTGTCTTCGTGGCCTGGGCTTGGTGGTGGGAGTTGAGGGACAGGGAGTTGGCAGAGGCCCCTCCCAGCCTGCCATGTGACACTGTACTTCCTCCACGGTGGGCTCAGCCCTGCCCTCATCCTCACAGCCGCAGCCAAGCTGCAGTTGGTAGGGGATCC
|
GCTGAGGGGCCTGGGCTGGCGAGGGCCTGGGTGGGGAGTGCCTGGGCCGCCCCTGCCTTGGTTTCCACGTTTCCGTGTTGGTCTGGGGTGTGTAGAGAGATGGGCACTGCTCATCCGGAAGCCCCTCCTTGTGCGCTGCCATCCTGGGAGCCTCAGCCGCATCCGCTGTGGGGCAGGGGGCTTGAGGGAGGAGGAGAGAGACGGGCCATGCAGGACCCCTGGCTTGAGGCAGAGCCAATCTACCCTTTGCCCATTCACTGCTCTCAGTTCCCTGCCAGCCTCTCACTGTGTGACCTCAGACGGGCCCAGCCCCACAGCTTTCTTCCCGCAGCCCCTCCCTATGTCCATCCAGCCAGCCAGTTTCTCAGGCAGCAGCCCCACCTCGGCAGTCACTGTCCCAGGGAACGCTCAATGTTCCAAGGAAGGCTCTGCAGCCCCAGGGACCAGATGATGAGGCTGGCCCTGATGGAGCCTCGGGCCTGTGTCCTGCAGGAGGAGCCCGTGGCTGGTGCACAGACGGACAGGGCCAAGCTCTTCATGGTGGCCGTGAAGCAGGAGTTGAGCCAAGCCAACTTTGCCACCTTCACCCAGGCCCTGCAGGACTACAAGGGTTCCGATGACTTCGCCGCCCTGGCCGCCTGTCTCGGCCCCCTCTTTGCTGAGGACCCCAAGAAGCACAACCTGCTCCAAGGTGCCCTGGCTTGCAGAGGCCACCCACCCTGAGGGCAGTGCTGCCGCCGCGTGTGGGGTGGGGGCCATCTGGGTCCAAGGTGGTCTCTGTTCTCTAGAGAAAAAGGGGCAGATGGGGACAGACGCCCCTTCCTCTACAGGCTTCTACCAGTTTGTGCGGCCCCACCATAAGCAGCAGTTTGAGGAGGTCTGTATCCAGCTGACAGGACGAGGCTGTGGCTATCGGCCTGAGCACAGCATTCCCCGAAGGCAGCGGGCACAGCCGGTCCTGGACCCCACTGGTAAATGGGGCCCCAGGTGGGACCCTCAGACTCCTGCGTGGAAGGCAGTGTGGGCCAGAGTCCTGGGCTGCTTGGGGTGGGCATCCTCGGGCCCTGCTTGGCCCCGCCTCTCTGTTCCCCTATGGGAGTGATGGGGGCCTCCACCTCCACCACCAGCACCAGCAGCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATGCACAGCCCTGTCCCTGCCATAGCCCCGACCCCTAAGCACAGCCCTGTCCAACTGCCACACGTCCCCTGCCTCCCATGCATGGTCCTGGGGGGTCAACTGCACACGCCAGGGTCCTAGGGTCCTAGACCCCTGTCCTCCCTGTTTCTGCCTCTGTTTGGGGTGGAGTCCAAGTCTCCAGAGGCGGAAGCATCTGTGTTCGTGTGTTAATGAACAGCCCCTACAGAGTTCCCCTAGTTCACCCAGGGGGGAACCTAGCCTGTTGGGACGACCCCAGATCCCTTCTGGGCTTGGTACTCACTGGGATATCCTCATGCCTGCACCCAGCCTACGGCTCTGAGCTCCTGAGTGGGGCTTTGGCCTGCCCGCCACTGTTCCAGCCCCCATCCAGCAGGCTGGTGTCTCCTCTGATGCCCCCAGCACCCAGGCGTGTACCTGCCTGGGTTTTCCCGCCCTGGTCTGAGGTGGGTGAGGCCTGGCCTCCCTAGCCAGCCCTGCCCCCCCACCCCAGGGAACTTTCCAGATGCTCTCGACCAGCTTTGTGGCTCTACATCTCATCAGGAAGAACGGCGCCGGATCCCAAGCTGACCGTGTCCACGGCTGCAGCCCAGCAGCTGGACCCCCAAGAGCACCTGAACCAGGGCAGGCCCCACCTGTCGCCCAGGCCACCCCCAACAGGTAGCTGACTCCTGAACCGTGTGCAGCCTACGACTTGGTGGGTCCCTCAGTGGCTTCACGAGGCTAACTCTTGAGTGTGGCCGGGGCTGCCCCTGTGGGGAGCCATCTCATGGTGGGGACTGCTCCCGGTTCTGCACCCCGCAGTTGTCCTGAGCAGCTCTCCAGGAGTTCCTGGAGGAAGGGCGGGCAGGGCGGTGGGACTCTCAGTCCTCCACCCCAGCGCCACTCTGAGCCATGCTACTCCCACACCAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGTGCCCAGAGCAGGGAAGCAGGGCCAGCACGCCGTGAGCGCCTACCTGGCTGATGCCCGCAGGGCCCTGGGGTCCGCGGGCTGTAGCCAACTCTTGGCAGCGCTGACAGCCTATAAGCAAGACGACGACCTCGACAAGGTGCTGGCTGTGTTGGCCGCCCTGACCACTGCAAAGCCAGAGGACTTCCCCCTGCTGCACAGCAAGTGGCCCTGGCGTGGGGAACAGCCGGTGGGGTGGGGGGCAGGGGACAAAATGGGGGCTGTGCCGGGTCTGATTGAAGCTCCCCGCAGGGTTCAGCATGTTTGTGCGTCCACACCACAAGCAGCGCTTCTCACAGACGTGCACAGACCTGACCGGCCGGCCCTACCCGGGCATGGAGCCACCGGGACCCCAGGAGGAGAGGCTTGCCGTGCCTCCTGTGCTTACCCACAGGGCTCCCCAACCAGGTAGGGCACCTGCCTGGCTGCTCCTGGCAGCGCCCCAACCGCACGCAGCCCTGGGAGTGAGCAGCAAAGCCCCAGGCCCCCCTCAGACTCAAGTCTCTGTCTCCAGGCCCCTCACGGTCCGAGAAGACCGGGAAGACCCAGAGCAAGATCTCGTCCTTCCTTAGACAGAGGCCAGCAGGGACTGTGGGGGCGGGCGGTGAGGATGCAGGTCCCAGCCAGTCCTCAGGACCTCCCCACGGGCCTGCAGCATCTGAGTGGGGTGAGCCTCATGGGAGAGACATCGCTGGGCAGCAGGCCACGGGAGCTCCGGGCGGGCCCCTCTCAGCAGGCTGTGTGTGCCAGGGCTGTGGGGCAGAGGACGTGGTGCCCTTCCAGTGCCCTGCCTGTGACTTCCAGCGCTGCCAAGCCTGCTGGCAACGGCACCTTCAGGTTGGTGCCTGGCCACTACAGTTCCTGCTGGGTGTAGCCCCAGGTGATGGGCTGAGGGGGAAAGGGCAGGCCCTTGTCCTGGTGGCAACGCCTGGCAGACGTGTGCAGTGGGCCGGTTGTCTCACAGGCCTCTAGGATGTGCCCAGCCTGCCACACCGCCTCCAGGAAGCAGAGCGTCATGCAGGTCTTCTGGCCAGAGCCCCAGTGAGTGCCCACGGAGGCCCCCAGCACACCCAACGTGGCTTGATCACCTGCCTGTCCAGCTCTGGTGGGCCAAGAACCCACCCAACAGAATAGGCCAGCCCATGCCAGCCGGCTTGGCCCGCTGCAGGCCTCAGGCAGGCGGGGCCCATGGTTGGTCCCTGCGGTGGGACCGGATCTGGGCCTGCCTCTGAGAAGCCCTGAGCTACCTTGGGGTCTGGGGTGGGTTTCTGGGAAAGTGCTTCCCCAGAACTTCCCTGGCTCCTGGCCTGTGAGTGGTGCCACAGGGGCACCCCAGCTGAGCCCCTCACCGGGAAGGAGGAGACCCCCGTGGGCACGTGTCCACTTTTAATCAGGGGACAGGGCTCTCTAATAAAGCTGCTGGCAGTGCCCAGGACGGTGTCTTCGTGGCCTGGGCTTGGTGGTGGGAGTTGAGGGACAGGGAGTTGGCAGAGGCCCCTCCCAGCCTGCCATGTGACACTGTACTTCCTCCACGGTGGGCTCAGCCCTGCCCTCATCCTCACAGCCGCAGCCAAGCTGCAGTTGGTAGGGGATCCNNN
|
benign
| 316,960 |
Is the genetic change at chromosome 20, position 63694764, within gene RTEL1 benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3']
|
AACGCTCAATGTTCCAAGGAAGGCTCTGCAGCCCCAGGGACCAGATGATGAGGCTGGCCCTGATGGAGCCTCGGGCCTGTGTCCTGCAGGAGGAGCCCGTGGCTGGTGCACAGACGGACAGGGCCAAGCTCTTCATGGTGGCCGTGAAGCAGGAGTTGAGCCAAGCCAACTTTGCCACCTTCACCCAGGCCCTGCAGGACTACAAGGGTTCCGATGACTTCGCCGCCCTGGCCGCCTGTCTCGGCCCCCTCTTTGCTGAGGACCCCAAGAAGCACAACCTGCTCCAAGGTGCCCTGGCTTGCAGAGGCCACCCACCCTGAGGGCAGTGCTGCCGCCGCGTGTGGGGTGGGGGCCATCTGGGTCCAAGGTGGTCTCTGTTCTCTAGAGAAAAAGGGGCAGATGGGGACAGACGCCCCTTCCTCTACAGGCTTCTACCAGTTTGTGCGGCCCCACCATAAGCAGCAGTTTGAGGAGGTCTGTATCCAGCTGACAGGACGAGGCTGTGGCTATCGGCCTGAGCACAGCATTCCCCGAAGGCAGCGGGCACAGCCGGTCCTGGACCCCACTGGTAAATGGGGCCCCAGGTGGGACCCTCAGACTCCTGCGTGGAAGGCAGTGTGGGCCAGAGTCCTGGGCTGCTTGGGGTGGGCATCCTCGGGCCCTGCTTGGCCCCGCCTCTCTGTTCCCCTATGGGAGTGATGGGGGCCTCCACCTCCACCACCAGCACCAGCAGCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATGCACAGCCCTGTCCCTGCCATAGCCCCGACCCCTAAGCACAGCCCTGTCCAACTGCCACACGTCCCCTGCCTCCCATGCATGGTCCTGGGGGGTCAACTGCACACGCCAGGGTCCTAGGGTCCTAGACCCCTGTCCTCCCTGTTTCTGCCTCTGTTTGGGGTGGAGTCCAAGTCTCCAGAGGCGGAAGCATCTGTGTTCGTGTGTTAATGAACAGCCCCTACAGAGTTCCCCTAGTTCACCCAGGGGGGAACCTAGCCTGTTGGGACGACCCCAGATCCCTTCTGGGCTTGGTACTCACTGGGATATCCTCATGCCTGCACCCAGCCTACGGCTCTGAGCTCCTGAGTGGGGCTTTGGCCTGCCCGCCACTGTTCCAGCCCCCATCCAGCAGGCTGGTGTCTCCTCTGATGCCCCCAGCACCCAGGCGTGTACCTGCCTGGGTTTTCCCGCCCTGGTCTGAGGTGGGTGAGGCCTGGCCTCCCTAGCCAGCCCTGCCCCCCCACCCCAGGGAACTTTCCAGATGCTCTCGACCAGCTTTGTGGCTCTACATCTCTTCATCAGGAAGAACGGCGCCGGATCCCAAGCTGACCGTGTCCACGGCTGCAGCCCAGCAGCTGGACCCCCAAGAGCACCTGAACCAGGGCAGGCCCCACCTGTCGCCCAGGCCACCCCCAACAGGTAGCTGACTCCTGAACCGTGTGCAGCCTACGACTTGGTGGGTCCCTCAGTGGCTTCACGAGGCTAACTCTTGAGTGTGGCCGGGGCTGCCCCTGTGGGGAGCCATCTCATGGTGGGGACTGCTCCCGGTTCTGCACCCCGCAGTTGTCCTGAGCAGCTCTCCAGGAGTTCCTGGAGGAAGGGCGGGCAGGGCGGTGGGACTCTCAGTCCTCCACCCCAGCGCCACTCTGAGCCATGCTACTCCCACACCAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGTGCCCAGAGCAGGGAAGCAGGGCCAGCACGCCGTGAGCGCCTACCTGGCTGATGCCCGCAGGGCCCTGGGGTCCGCGGGCTGTAGCCAACTCTTGGCAGCGCTGACAGCCTATAAGCAAGACGACGACCTCGACAAGGTGCTGGCTGTGTTGGCCGCCCTGACCACTGCAAAGCCAGAGGACTTCCCCCTGCTGCACAGCAAGTGGCCCTGGCGTGGGGAACAGCCGGTGGGGTGGGGGGCAGGGGACAAAATGGGGGCTGTGCCGGGTCTGATTGAAGCTCCCCGCAGGGTTCAGCATGTTTGTGCGTCCACACCACAAGCAGCGCTTCTCACAGACGTGCACAGACCTGACCGGCCGGCCCTACCCGGGCATGGAGCCACCGGGACCCCAGGAGGAGAGGCTTGCCGTGCCTCCTGTGCTTACCCACAGGGCTCCCCAACCAGGTAGGGCACCTGCCTGGCTGCTCCTGGCAGCGCCCCAACCGCACGCAGCCCTGGGAGTGAGCAGCAAAGCCCCAGGCCCCCCTCAGACTCAAGTCTCTGTCTCCAGGCCCCTCACGGTCCGAGAAGACCGGGAAGACCCAGAGCAAGATCTCGTCCTTCCTTAGACAGAGGCCAGCAGGGACTGTGGGGGCGGGCGGTGAGGATGCAGGTCCCAGCCAGTCCTCAGGACCTCCCCACGGGCCTGCAGCATCTGAGTGGGGTGAGCCTCATGGGAGAGACATCGCTGGGCAGCAGGCCACGGGAGCTCCGGGCGGGCCCCTCTCAGCAGGCTGTGTGTGCCAGGGCTGTGGGGCAGAGGACGTGGTGCCCTTCCAGTGCCCTGCCTGTGACTTCCAGCGCTGCCAAGCCTGCTGGCAACGGCACCTTCAGGTTGGTGCCTGGCCACTACAGTTCCTGCTGGGTGTAGCCCCAGGTGATGGGCTGAGGGGGAAAGGGCAGGCCCTTGTCCTGGTGGCAACGCCTGGCAGACGTGTGCAGTGGGCCGGTTGTCTCACAGGCCTCTAGGATGTGCCCAGCCTGCCACACCGCCTCCAGGAAGCAGAGCGTCATGCAGGTCTTCTGGCCAGAGCCCCAGTGAGTGCCCACGGAGGCCCCCAGCACACCCAACGTGGCTTGATCACCTGCCTGTCCAGCTCTGGTGGGCCAAGAACCCACCCAACAGAATAGGCCAGCCCATGCCAGCCGGCTTGGCCCGCTGCAGGCCTCAGGCAGGCGGGGCCCATGGTTGGTCCCTGCGGTGGGACCGGATCTGGGCCTGCCTCTGAGAAGCCCTGAGCTACCTTGGGGTCTGGGGTGGGTTTCTGGGAAAGTGCTTCCCCAGAACTTCCCTGGCTCCTGGCCTGTGAGTGGTGCCACAGGGGCACCCCAGCTGAGCCCCTCACCGGGAAGGAGGAGACCCCCGTGGGCACGTGTCCACTTTTAATCAGGGGACAGGGCTCTCTAATAAAGCTGCTGGCAGTGCCCAGGACGGTGTCTTCGTGGCCTGGGCTTGGTGGTGGGAGTTGAGGGACAGGGAGTTGGCAGAGGCCCCTCCCAGCCTGCCATGTGACACTGTACTTCCTCCACGGTGGGCTCAGCCCTGCCCTCATCCTCACAGCCGCAGCCAAGCTGCAGTTGGTAGGGGATCCACCGACACACCAGGCTGCCTGGGCTGGTCTCTGGGTTGGGAGCTGCCCCAGGTGCTGAGGAGGGCAGCTCCCTGGCTGGTGAGGCCCCTCCCAGAACCACCCTTGGACTGAGCTCTGGGGAGGGATGGTACCAGGTGGGTGAGGGGGGCTGCCTGGGGAGGGAGGGGTTCCTATGGGGCGTGGCGAGGCTGGCCCAGCCCTCTCCCCGCCCATATATGTAGGGCAGCAGCAGGATGGGCTTCTGGACTTGGGCGGCCCCTCCGCAGGCGGACCGGGGGCAAAGGAGGTGGCATGTCGGTCAGGCACAGCAGGGTCCTGTGTCCGCGCTGAGCCGCGCTCTCCCTGCTCCAGCAAGGACCATGAGGGCGCTGGAGGGGCCAGGCCTGTCGCTGCTGTGCCTGGT
|
AACGCTCAATGTTCCAAGGAAGGCTCTGCAGCCCCAGGGACCAGATGATGAGGCTGGCCCTGATGGAGCCTCGGGCCTGTGTCCTGCAGGAGGAGCCCGTGGCTGGTGCACAGACGGACAGGGCCAAGCTCTTCATGGTGGCCGTGAAGCAGGAGTTGAGCCAAGCCAACTTTGCCACCTTCACCCAGGCCCTGCAGGACTACAAGGGTTCCGATGACTTCGCCGCCCTGGCCGCCTGTCTCGGCCCCCTCTTTGCTGAGGACCCCAAGAAGCACAACCTGCTCCAAGGTGCCCTGGCTTGCAGAGGCCACCCACCCTGAGGGCAGTGCTGCCGCCGCGTGTGGGGTGGGGGCCATCTGGGTCCAAGGTGGTCTCTGTTCTCTAGAGAAAAAGGGGCAGATGGGGACAGACGCCCCTTCCTCTACAGGCTTCTACCAGTTTGTGCGGCCCCACCATAAGCAGCAGTTTGAGGAGGTCTGTATCCAGCTGACAGGACGAGGCTGTGGCTATCGGCCTGAGCACAGCATTCCCCGAAGGCAGCGGGCACAGCCGGTCCTGGACCCCACTGGTAAATGGGGCCCCAGGTGGGACCCTCAGACTCCTGCGTGGAAGGCAGTGTGGGCCAGAGTCCTGGGCTGCTTGGGGTGGGCATCCTCGGGCCCTGCTTGGCCCCGCCTCTCTGTTCCCCTATGGGAGTGATGGGGGCCTCCACCTCCACCACCAGCACCAGCAGCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATGCACAGCCCTGTCCCTGCCATAGCCCCGACCCCTAAGCACAGCCCTGTCCAACTGCCACACGTCCCCTGCCTCCCATGCATGGTCCTGGGGGGTCAACTGCACACGCCAGGGTCCTAGGGTCCTAGACCCCTGTCCTCCCTGTTTCTGCCTCTGTTTGGGGTGGAGTCCAAGTCTCCAGAGGCGGAAGCATCTGTGTTCGTGTGTTAATGAACAGCCCCTACAGAGTTCCCCTAGTTCACCCAGGGGGGAACCTAGCCTGTTGGGACGACCCCAGATCCCTTCTGGGCTTGGTACTCACTGGGATATCCTCATGCCTGCACCCAGCCTACGGCTCTGAGCTCCTGAGTGGGGCTTTGGCCTGCCCGCCACTGTTCCAGCCCCCATCCAGCAGGCTGGTGTCTCCTCTGATGCCCCCAGCACCCAGGCGTGTACCTGCCTGGGTTTTCCCGCCCTGGTCTGAGGTGGGTGAGGCCTGGCCTCCCTAGCCAGCCCTGCCCCCCCACCCCAGGGAACTTTCCAGATGCTCTCGACCAGCTTTGTGGCTCTACATCTCTTCATCAGGAAGAACGGCGCCGGATCCCAAGCTGACCGTGTCCACGGCTGCAGCCCAGCAGCTGGACCCCCAAGAGCACCTGAACCAGGGCAGGCCCCACCTGTCGCCCAGGCCACCCCCAACAGGTAGCTGACTCCTGAACCGTGTGCAGCCTACGACTTGGTGGGTCCCTCAGTGGCTTCACGAGGCTAACTCTTGAGTGTGGCCGGGGCTGCCCCTGTGGGGAGCCATCTCATGGTGGGGACTGCTCCCGGTTCTGCACCCCGCAGTTGTCCTGAGCAGCTCTCCAGGAGTTCCTGGAGGAAGGGCGGGCAGGGCGGTGGGACTCTCAGTCCTCCACCCCAGCGCCACTCTGAGCCATGCTACTCCCACACCAGGAGACCCTGGCAGCCAACCACAGTGGGGTCTGGAGTGCCCAGAGCAGGGAAGCAGGGCCAGCACGCCGTGAGCGCCTACCTGGCTGATGCCCGCAGGGCCCTGGGGTCCGCGGGCTGTAGCCAACTCTTGGCAGCGCTGACAGCCTATAAGCAAGACGACGACCTCGACAAGGTGCTGGCTGTGTTGGCCGCCCTGACCACTGCAAAGCCAGAGGACTTCCCCCTGCTGCACAGCAAGTGGCCCTGGCGTGGGGAACAGCCGGTGGGGTGGGGGGCAGGGGACAAAATGGGGGCTGTGCCGGGTCTGATTGAAGCTCCCCGCAGGGTTCAGCATGTTTGTGCGTCCACACCACAAGCAGCGCTTCTCACAGACGTGCACAGACCTGACCGGCCGGCCCTACCCGGGCATGGAGCCACCGGGACCCCAGGAGGAGAGGCTTGCCGTGCCTCCTGTGCTTACCCACAGGGCTCCCCAACCAGGTAGGGCACCTGCCTGGCTGCTCCTGGCAGCGCCCCAACCGCACGCAGCCCTGGGAGTGAGCAGCAAAGCCCCAGGCCCCCCTCAGACTCAAGTCTCTGTCTCCAGGCCCCTCACGGTCCGAGAAGACCGGGAAGACCCAGAGCAAGATCTCGTCCTTCCTTAGACAGAGGCCAGCAGGGACTGTGGGGGCGGGCGGTGAGGATGCAGGTCCCAGCCAGTCCTCAGGACCTCCCCACGGGCCTGCAGCATCTGAGTGGGGTGAGCCTCATGGGAGAGACATCGCTGGGCAGCAGGCCACGGGAGCTCCGGGCGGGCCCCTCTCAGCAGGCTGTGTGTGCCAGGGCTGTGGGGCAGAGGACGTGGTGCCCTTCCAGTGCCCTGCCTGTGACTTCCAGCGCTGCCAAGCCTGCTGGCAACGGCACCTTCAGGTTGGTGCCTGGCCACTACAGTTCCTGCTGGGTGTAGCCCCAGGTGATGGGCTGAGGGGGAAAGGGCAGGCCCTTGTCCTGGTGGCAACGCCTGGCAGACGTGTGCAGTGGGCCGGTTGTCTCACAGGCCTCTAGGATGTGCCCAGCCTGCCACACCGCCTCCAGGAAGCAGAGCGTCATGCAGGTCTTCTGGCCAGAGCCCCAGTGAGTGCCCACGGAGGCCCCCAGCACACCCAACGTGGCTTGATCACCTGCCTGTCCAGCTCTGGTGGGCCAAGAACCCACCCAACAGAATAGGCCAGCCCATGCCAGCCGGCTTGGCCCGCTGCAGGCCTCAGGCAGGCGGGGCCCATGGTTGGTCCCTGCGGTGGGACCGGATCTGGGCCTGCCTCTGAGAAGCCCTGAGCTACCTTGGGGTCTGGGGTGGGTTTCTGGGAAAGTGCTTCCCCAGAACTTCCCTGGCTCCTGGCCTGTGAGTGGTGCCACAGGGGCACCCCAGCTGAGCCCCTCACCGGGAAGGAGGAGACCCCCGTGGGCACGTGTCCACTTTTAATCAGGGGACAGGGCTCTCTAATAAAGCTGCTGGCAGTGCCCAGGACGGTGTCTTCGTGGCCTGGGCTTGGTGGTGGGAGTTGAGGGACAGGGAGTTGGCAGAGGCCCCTCCCAGCCTGCCATGTGACACTGTACTTCCTCCACGGTGGGCTCAGCCCTGCCCTCATCCTCACAGCCGCAGCCAAGCTGCAGTTGGTAGGGGATCCACCGACACACCAGGCTGCCTGGGCTGGTCTCTGGGTTGGGAGCTGCCCCAGGTGCTGAGGAGGGCAGCTCCCTGGCTGGTGAGGCCCCTCCCAGAACCACCCTTGGACTGAGCTCTGGGGAGGGATGGTACCAGGTGGGTGAGGGGGGCTGCCTGGGGAGGGAGGGGTTCCTATGGGGCGTGGCGAGGCTGGCCCAGCCCTCTCCCCGCCCATATATGTAGGGCAGCAGCAGGATGGGCTTCTGGACTTGGGCGGCCCCTCCGCAGGCGGACCGGGGGCAAAGGAGGTGGCATGTCGGTCAGGCACAGCAGGGTCCTGTGTCCGCGCTGAGCCGCGCTCTCCCTGCTCCAGCAAGGACCATGAGGGCGCTGGAGGGGCCAGGCCTGTCGCTGCTGTGCCTGGTN
|
pathogenic
| 316,997 |
For chromosome 20, position 63694960, gene RTEL1: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3']
|
GGACTACAAGGGTTCCGATGACTTCGCCGCCCTGGCCGCCTGTCTCGGCCCCCTCTTTGCTGAGGACCCCAAGAAGCACAACCTGCTCCAAGGTGCCCTGGCTTGCAGAGGCCACCCACCCTGAGGGCAGTGCTGCCGCCGCGTGTGGGGTGGGGGCCATCTGGGTCCAAGGTGGTCTCTGTTCTCTAGAGAAAAAGGGGCAGATGGGGACAGACGCCCCTTCCTCTACAGGCTTCTACCAGTTTGTGCGGCCCCACCATAAGCAGCAGTTTGAGGAGGTCTGTATCCAGCTGACAGGACGAGGCTGTGGCTATCGGCCTGAGCACAGCATTCCCCGAAGGCAGCGGGCACAGCCGGTCCTGGACCCCACTGGTAAATGGGGCCCCAGGTGGGACCCTCAGACTCCTGCGTGGAAGGCAGTGTGGGCCAGAGTCCTGGGCTGCTTGGGGTGGGCATCCTCGGGCCCTGCTTGGCCCCGCCTCTCTGTTCCCCTATGGGAGTGATGGGGGCCTCCACCTCCACCACCAGCACCAGCAGCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATGCACAGCCCTGTCCCTGCCATAGCCCCGACCCCTAAGCACAGCCCTGTCCAACTGCCACACGTCCCCTGCCTCCCATGCATGGTCCTGGGGGGTCAACTGCACACGCCAGGGTCCTAGGGTCCTAGACCCCTGTCCTCCCTGTTTCTGCCTCTGTTTGGGGTGGAGTCCAAGTCTCCAGAGGCGGAAGCATCTGTGTTCGTGTGTTAATGAACAGCCCCTACAGAGTTCCCCTAGTTCACCCAGGGGGGAACCTAGCCTGTTGGGACGACCCCAGATCCCTTCTGGGCTTGGTACTCACTGGGATATCCTCATGCCTGCACCCAGCCTACGGCTCTGAGCTCCTGAGTGGGGCTTTGGCCTGCCCGCCACTGTTCCAGCCCCCATCCAGCAGGCTGGTGTCTCCTCTGATGCCCCCAGCACCCAGGCGTGTACCTGCCTGGGTTTTCCCGCCCTGGTCTGAGGTGGGTGAGGCCTGGCCTCCCTAGCCAGCCCTGCCCCCCCACCCCAGGGAACTTTCCAGATGCTCTCGACCAGCTTTGTGGCTCTACATCTCTTCATCAGGAAGAACGGCGCCGGATCCCAAGCTGACCGTGTCCACGGCTGCAGCCCAGCAGCTGGACCCCCAAGAGCACCTGAACCAGGGCAGGCCCCACCTGTCGCCCAGGCCACCCCCAACAGGTAGCTGACTCCTGAACCGTGTGCAGCCTACGACTTGGTGGGTCCCTCAGTGGCTTCACGAGGCTAACTCTTGAGTGTGGCCGGGGCTGCCCCTGTGGGGAGCCATCTCATGGTGGGGACTGCTCCCGGTTCTGCACCCCGCAGTTGTCCTGAGCAGCTCTCCAGGAGTTCCTGGAGGAAGGGCGGGCAGGGCGGTGGGACTCTCAGTCCTCCACCCCAGCGCCACTCTGAGCCATGCTACTCCCACACCAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGTGCCCAGAGCAGGGAAGCAGGGCCAGCACGCCGTGAGCGCCTACCTGGCTGATGCCCGCAGGGCCCTGGGGTCCGCGGGCTGTAGCCAACTCTTGGCAGCGCTGACAGCCTATAAGCAAGACGACGACCTCGACAAGGTGCTGGCTGTGTTGGCCGCCCTGACCACTGCAAAGCCAGAGGACTTCCCCCTGCTGCACAGCAAGTGGCCCTGGCGTGGGGAACAGCCGGTGGGGTGGGGGGCAGGGGACAAAATGGGGGCTGTGCCGGGTCTGATTGAAGCTCCCCGCAGGGTTCAGCATGTTTGTGCGTCCACACCACAAGCAGCGCTTCTCACAGACGTGCACAGACCTGACCGGCCGGCCCTACCCGGGCATGGAGCCACCGGGACCCCAGGAGGAGAGGCTTGCCGTGCCTCCTGTGCTTACCCACAGGGCTCCCCAACCAGGTAGGGCACCTGCCTGGCTGCTCCTGGCAGCGCCCCAACCGCACGCAGCCCTGGGAGTGAGCAGCAAAGCCCCAGGCCCCCCTCAGACTCAAGTCTCTGTCTCCAGGCCCCTCACGGTCCGAGAAGACCGGGAAGACCCAGAGCAAGATCTCGTCCTTCCTTAGACAGAGGCCAGCAGGGACTGTGGGGGCGGGCGGTGAGGATGCAGGTCCCAGCCAGTCCTCAGGACCTCCCCACGGGCCTGCAGCATCTGAGTGGGGTGAGCCTCATGGGAGAGACATCGCTGGGCAGCAGGCCACGGGAGCTCCGGGCGGGCCCCTCTCAGCAGGCTGTGTGTGCCAGGGCTGTGGGGCAGAGGACGTGGTGCCCTTCCAGTGCCCTGCCTGTGACTTCCAGCGCTGCCAAGCCTGCTGGCAACGGCACCTTCAGGTTGGTGCCTGGCCACTACAGTTCCTGCTGGGTGTAGCCCCAGGTGATGGGCTGAGGGGGAAAGGGCAGGCCCTTGTCCTGGTGGCAACGCCTGGCAGACGTGTGCAGTGGGCCGGTTGTCTCACAGGCCTCTAGGATGTGCCCAGCCTGCCACACCGCCTCCAGGAAGCAGAGCGTCATGCAGGTCTTCTGGCCAGAGCCCCAGTGAGTGCCCACGGAGGCCCCCAGCACACCCAACGTGGCTTGATCACCTGCCTGTCCAGCTCTGGTGGGCCAAGAACCCACCCAACAGAATAGGCCAGCCCATGCCAGCCGGCTTGGCCCGCTGCAGGCCTCAGGCAGGCGGGGCCCATGGTTGGTCCCTGCGGTGGGACCGGATCTGGGCCTGCCTCTGAGAAGCCCTGAGCTACCTTGGGGTCTGGGGTGGGTTTCTGGGAAAGTGCTTCCCCAGAACTTCCCTGGCTCCTGGCCTGTGAGTGGTGCCACAGGGGCACCCCAGCTGAGCCCCTCACCGGGAAGGAGGAGACCCCCGTGGGCACGTGTCCACTTTTAATCAGGGGACAGGGCTCTCTAATAAAGCTGCTGGCAGTGCCCAGGACGGTGTCTTCGTGGCCTGGGCTTGGTGGTGGGAGTTGAGGGACAGGGAGTTGGCAGAGGCCCCTCCCAGCCTGCCATGTGACACTGTACTTCCTCCACGGTGGGCTCAGCCCTGCCCTCATCCTCACAGCCGCAGCCAAGCTGCAGTTGGTAGGGGATCCACCGACACACCAGGCTGCCTGGGCTGGTCTCTGGGTTGGGAGCTGCCCCAGGTGCTGAGGAGGGCAGCTCCCTGGCTGGTGAGGCCCCTCCCAGAACCACCCTTGGACTGAGCTCTGGGGAGGGATGGTACCAGGTGGGTGAGGGGGGCTGCCTGGGGAGGGAGGGGTTCCTATGGGGCGTGGCGAGGCTGGCCCAGCCCTCTCCCCGCCCATATATGTAGGGCAGCAGCAGGATGGGCTTCTGGACTTGGGCGGCCCCTCCGCAGGCGGACCGGGGGCAAAGGAGGTGGCATGTCGGTCAGGCACAGCAGGGTCCTGTGTCCGCGCTGAGCCGCGCTCTCCCTGCTCCAGCAAGGACCATGAGGGCGCTGGAGGGGCCAGGCCTGTCGCTGCTGTGCCTGGTGTTGGCGCTGCCTGCCCTGCTGCCGGTGCCGGCTGTACGCGGAGTGGCAGAAACACCCACCTACCCCTGGCGGGACGCAGAGACAGGGGAGCGGCTGGTGTGCGCCCAGTGCCCCCCAGGCACCTTTGTGCAGCGGCCGTGCCGCCGAGACAGCCCCACGACGTGTGGCCCGTGTCCACCGCGCCACTACACGCAG
|
GGACTACAAGGGTTCCGATGACTTCGCCGCCCTGGCCGCCTGTCTCGGCCCCCTCTTTGCTGAGGACCCCAAGAAGCACAACCTGCTCCAAGGTGCCCTGGCTTGCAGAGGCCACCCACCCTGAGGGCAGTGCTGCCGCCGCGTGTGGGGTGGGGGCCATCTGGGTCCAAGGTGGTCTCTGTTCTCTAGAGAAAAAGGGGCAGATGGGGACAGACGCCCCTTCCTCTACAGGCTTCTACCAGTTTGTGCGGCCCCACCATAAGCAGCAGTTTGAGGAGGTCTGTATCCAGCTGACAGGACGAGGCTGTGGCTATCGGCCTGAGCACAGCATTCCCCGAAGGCAGCGGGCACAGCCGGTCCTGGACCCCACTGGTAAATGGGGCCCCAGGTGGGACCCTCAGACTCCTGCGTGGAAGGCAGTGTGGGCCAGAGTCCTGGGCTGCTTGGGGTGGGCATCCTCGGGCCCTGCTTGGCCCCGCCTCTCTGTTCCCCTATGGGAGTGATGGGGGCCTCCACCTCCACCACCAGCACCAGCAGCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATGCACAGCCCTGTCCCTGCCATAGCCCCGACCCCTAAGCACAGCCCTGTCCAACTGCCACACGTCCCCTGCCTCCCATGCATGGTCCTGGGGGGTCAACTGCACACGCCAGGGTCCTAGGGTCCTAGACCCCTGTCCTCCCTGTTTCTGCCTCTGTTTGGGGTGGAGTCCAAGTCTCCAGAGGCGGAAGCATCTGTGTTCGTGTGTTAATGAACAGCCCCTACAGAGTTCCCCTAGTTCACCCAGGGGGGAACCTAGCCTGTTGGGACGACCCCAGATCCCTTCTGGGCTTGGTACTCACTGGGATATCCTCATGCCTGCACCCAGCCTACGGCTCTGAGCTCCTGAGTGGGGCTTTGGCCTGCCCGCCACTGTTCCAGCCCCCATCCAGCAGGCTGGTGTCTCCTCTGATGCCCCCAGCACCCAGGCGTGTACCTGCCTGGGTTTTCCCGCCCTGGTCTGAGGTGGGTGAGGCCTGGCCTCCCTAGCCAGCCCTGCCCCCCCACCCCAGGGAACTTTCCAGATGCTCTCGACCAGCTTTGTGGCTCTACATCTCTTCATCAGGAAGAACGGCGCCGGATCCCAAGCTGACCGTGTCCACGGCTGCAGCCCAGCAGCTGGACCCCCAAGAGCACCTGAACCAGGGCAGGCCCCACCTGTCGCCCAGGCCACCCCCAACAGGTAGCTGACTCCTGAACCGTGTGCAGCCTACGACTTGGTGGGTCCCTCAGTGGCTTCACGAGGCTAACTCTTGAGTGTGGCCGGGGCTGCCCCTGTGGGGAGCCATCTCATGGTGGGGACTGCTCCCGGTTCTGCACCCCGCAGTTGTCCTGAGCAGCTCTCCAGGAGTTCCTGGAGGAAGGGCGGGCAGGGCGGTGGGACTCTCAGTCCTCCACCCCAGCGCCACTCTGAGCCATGCTACTCCCACACCAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGTGCCCAGAGCAGGGAAGCAGGGCCAGCACGCCGTGAGCGCCTACCTGGCTGATGCCCGCAGGGCCCTGGGGTCCGCGGGCTGTAGCCAACTCTTGGCAGCGCTGACAGCCTATAAGCAAGACGACGACCTCGACAAGGTGCTGGCTGTGTTGGCCGCCCTGACCACTGCAAAGCCAGAGGACTTCCCCTGCTGCACAGCAAGTGGCCCTGGCGTGGGGAACAGCCGGTGGGGTGGGGGGCAGGGGACAAAATGGGGGCTGTGCCGGGTCTGATTGAAGCTCCCCGCAGGGTTCAGCATGTTTGTGCGTCCACACCACAAGCAGCGCTTCTCACAGACGTGCACAGACCTGACCGGCCGGCCCTACCCGGGCATGGAGCCACCGGGACCCCAGGAGGAGAGGCTTGCCGTGCCTCCTGTGCTTACCCACAGGGCTCCCCAACCAGGTAGGGCACCTGCCTGGCTGCTCCTGGCAGCGCCCCAACCGCACGCAGCCCTGGGAGTGAGCAGCAAAGCCCCAGGCCCCCCTCAGACTCAAGTCTCTGTCTCCAGGCCCCTCACGGTCCGAGAAGACCGGGAAGACCCAGAGCAAGATCTCGTCCTTCCTTAGACAGAGGCCAGCAGGGACTGTGGGGGCGGGCGGTGAGGATGCAGGTCCCAGCCAGTCCTCAGGACCTCCCCACGGGCCTGCAGCATCTGAGTGGGGTGAGCCTCATGGGAGAGACATCGCTGGGCAGCAGGCCACGGGAGCTCCGGGCGGGCCCCTCTCAGCAGGCTGTGTGTGCCAGGGCTGTGGGGCAGAGGACGTGGTGCCCTTCCAGTGCCCTGCCTGTGACTTCCAGCGCTGCCAAGCCTGCTGGCAACGGCACCTTCAGGTTGGTGCCTGGCCACTACAGTTCCTGCTGGGTGTAGCCCCAGGTGATGGGCTGAGGGGGAAAGGGCAGGCCCTTGTCCTGGTGGCAACGCCTGGCAGACGTGTGCAGTGGGCCGGTTGTCTCACAGGCCTCTAGGATGTGCCCAGCCTGCCACACCGCCTCCAGGAAGCAGAGCGTCATGCAGGTCTTCTGGCCAGAGCCCCAGTGAGTGCCCACGGAGGCCCCCAGCACACCCAACGTGGCTTGATCACCTGCCTGTCCAGCTCTGGTGGGCCAAGAACCCACCCAACAGAATAGGCCAGCCCATGCCAGCCGGCTTGGCCCGCTGCAGGCCTCAGGCAGGCGGGGCCCATGGTTGGTCCCTGCGGTGGGACCGGATCTGGGCCTGCCTCTGAGAAGCCCTGAGCTACCTTGGGGTCTGGGGTGGGTTTCTGGGAAAGTGCTTCCCCAGAACTTCCCTGGCTCCTGGCCTGTGAGTGGTGCCACAGGGGCACCCCAGCTGAGCCCCTCACCGGGAAGGAGGAGACCCCCGTGGGCACGTGTCCACTTTTAATCAGGGGACAGGGCTCTCTAATAAAGCTGCTGGCAGTGCCCAGGACGGTGTCTTCGTGGCCTGGGCTTGGTGGTGGGAGTTGAGGGACAGGGAGTTGGCAGAGGCCCCTCCCAGCCTGCCATGTGACACTGTACTTCCTCCACGGTGGGCTCAGCCCTGCCCTCATCCTCACAGCCGCAGCCAAGCTGCAGTTGGTAGGGGATCCACCGACACACCAGGCTGCCTGGGCTGGTCTCTGGGTTGGGAGCTGCCCCAGGTGCTGAGGAGGGCAGCTCCCTGGCTGGTGAGGCCCCTCCCAGAACCACCCTTGGACTGAGCTCTGGGGAGGGATGGTACCAGGTGGGTGAGGGGGGCTGCCTGGGGAGGGAGGGGTTCCTATGGGGCGTGGCGAGGCTGGCCCAGCCCTCTCCCCGCCCATATATGTAGGGCAGCAGCAGGATGGGCTTCTGGACTTGGGCGGCCCCTCCGCAGGCGGACCGGGGGCAAAGGAGGTGGCATGTCGGTCAGGCACAGCAGGGTCCTGTGTCCGCGCTGAGCCGCGCTCTCCCTGCTCCAGCAAGGACCATGAGGGCGCTGGAGGGGCCAGGCCTGTCGCTGCTGTGCCTGGTGTTGGCGCTGCCTGCCCTGCTGCCGGTGCCGGCTGTACGCGGAGTGGCAGAAACACCCACCTACCCCTGGCGGGACGCAGAGACAGGGGAGCGGCTGGTGTGCGCCCAGTGCCCCCCAGGCACCTTTGTGCAGCGGCCGTGCCGCCGAGACAGCCCCACGACGTGTGGCCCGTGTCCACCGCGCCACTACACGCAGN
|
pathogenic
| 317,025 |
Is the genetic mutation found on chromosome 20 at position 63695383, within the gene RTEL1, considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3']
|
GGGCCAGAGTCCTGGGCTGCTTGGGGTGGGCATCCTCGGGCCCTGCTTGGCCCCGCCTCTCTGTTCCCCTATGGGAGTGATGGGGGCCTCCACCTCCACCACCAGCACCAGCAGCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATGCACAGCCCTGTCCCTGCCATAGCCCCGACCCCTAAGCACAGCCCTGTCCAACTGCCACACGTCCCCTGCCTCCCATGCATGGTCCTGGGGGGTCAACTGCACACGCCAGGGTCCTAGGGTCCTAGACCCCTGTCCTCCCTGTTTCTGCCTCTGTTTGGGGTGGAGTCCAAGTCTCCAGAGGCGGAAGCATCTGTGTTCGTGTGTTAATGAACAGCCCCTACAGAGTTCCCCTAGTTCACCCAGGGGGGAACCTAGCCTGTTGGGACGACCCCAGATCCCTTCTGGGCTTGGTACTCACTGGGATATCCTCATGCCTGCACCCAGCCTACGGCTCTGAGCTCCTGAGTGGGGCTTTGGCCTGCCCGCCACTGTTCCAGCCCCCATCCAGCAGGCTGGTGTCTCCTCTGATGCCCCCAGCACCCAGGCGTGTACCTGCCTGGGTTTTCCCGCCCTGGTCTGAGGTGGGTGAGGCCTGGCCTCCCTAGCCAGCCCTGCCCCCCCACCCCAGGGAACTTTCCAGATGCTCTCGACCAGCTTTGTGGCTCTACATCTCTTCATCAGGAAGAACGGCGCCGGATCCCAAGCTGACCGTGTCCACGGCTGCAGCCCAGCAGCTGGACCCCCAAGAGCACCTGAACCAGGGCAGGCCCCACCTGTCGCCCAGGCCACCCCCAACAGGTAGCTGACTCCTGAACCGTGTGCAGCCTACGACTTGGTGGGTCCCTCAGTGGCTTCACGAGGCTAACTCTTGAGTGTGGCCGGGGCTGCCCCTGTGGGGAGCCATCTCATGGTGGGGACTGCTCCCGGTTCTGCACCCCGCAGTTGTCCTGAGCAGCTCTCCAGGAGTTCCTGGAGGAAGGGCGGGCAGGGCGGTGGGACTCTCAGTCCTCCACCCCAGCGCCACTCTGAGCCATGCTACTCCCACACCAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGTGCCCAGAGCAGGGAAGCAGGGCCAGCACGCCGTGAGCGCCTACCTGGCTGATGCCCGCAGGGCCCTGGGGTCCGCGGGCTGTAGCCAACTCTTGGCAGCGCTGACAGCCTATAAGCAAGACGACGACCTCGACAAGGTGCTGGCTGTGTTGGCCGCCCTGACCACTGCAAAGCCAGAGGACTTCCCCCTGCTGCACAGCAAGTGGCCCTGGCGTGGGGAACAGCCGGTGGGGTGGGGGGCAGGGGACAAAATGGGGGCTGTGCCGGGTCTGATTGAAGCTCCCCGCAGGGTTCAGCATGTTTGTGCGTCCACACCACAAGCAGCGCTTCTCACAGACGTGCACAGACCTGACCGGCCGGCCCTACCCGGGCATGGAGCCACCGGGACCCCAGGAGGAGAGGCTTGCCGTGCCTCCTGTGCTTACCCACAGGGCTCCCCAACCAGGTAGGGCACCTGCCTGGCTGCTCCTGGCAGCGCCCCAACCGCACGCAGCCCTGGGAGTGAGCAGCAAAGCCCCAGGCCCCCCTCAGACTCAAGTCTCTGTCTCCAGGCCCCTCACGGTCCGAGAAGACCGGGAAGACCCAGAGCAAGATCTCGTCCTTCCTTAGACAGAGGCCAGCAGGGACTGTGGGGGCGGGCGGTGAGGATGCAGGTCCCAGCCAGTCCTCAGGACCTCCCCACGGGCCTGCAGCATCTGAGTGGGGTGAGCCTCATGGGAGAGACATCGCTGGGCAGCAGGCCACGGGAGCTCCGGGCGGGCCCCTCTCAGCAGGCTGTGTGTGCCAGGGCTGTGGGGCAGAGGACGTGGTGCCCTTCCAGTGCCCTGCCTGTGACTTCCAGCGCTGCCAAGCCTGCTGGCAACGGCACCTTCAGGTTGGTGCCTGGCCACTACAGTTCCTGCTGGGTGTAGCCCCAGGTGATGGGCTGAGGGGGAAAGGGCAGGCCCTTGTCCTGGTGGCAACGCCTGGCAGACGTGTGCAGTGGGCCGGTTGTCTCACAGGCCTCTAGGATGTGCCCAGCCTGCCACACCGCCTCCAGGAAGCAGAGCGTCATGCAGGTCTTCTGGCCAGAGCCCCAGTGAGTGCCCACGGAGGCCCCCAGCACACCCAACGTGGCTTGATCACCTGCCTGTCCAGCTCTGGTGGGCCAAGAACCCACCCAACAGAATAGGCCAGCCCATGCCAGCCGGCTTGGCCCGCTGCAGGCCTCAGGCAGGCGGGGCCCATGGTTGGTCCCTGCGGTGGGACCGGATCTGGGCCTGCCTCTGAGAAGCCCTGAGCTACCTTGGGGTCTGGGGTGGGTTTCTGGGAAAGTGCTTCCCCAGAACTTCCCTGGCTCCTGGCCTGTGAGTGGTGCCACAGGGGCACCCCAGCTGAGCCCCTCACCGGGAAGGAGGAGACCCCCGTGGGCACGTGTCCACTTTTAATCAGGGGACAGGGCTCTCTAATAAAGCTGCTGGCAGTGCCCAGGACGGTGTCTTCGTGGCCTGGGCTTGGTGGTGGGAGTTGAGGGACAGGGAGTTGGCAGAGGCCCCTCCCAGCCTGCCATGTGACACTGTACTTCCTCCACGGTGGGCTCAGCCCTGCCCTCATCCTCACAGCCGCAGCCAAGCTGCAGTTGGTAGGGGATCCACCGACACACCAGGCTGCCTGGGCTGGTCTCTGGGTTGGGAGCTGCCCCAGGTGCTGAGGAGGGCAGCTCCCTGGCTGGTGAGGCCCCTCCCAGAACCACCCTTGGACTGAGCTCTGGGGAGGGATGGTACCAGGTGGGTGAGGGGGGCTGCCTGGGGAGGGAGGGGTTCCTATGGGGCGTGGCGAGGCTGGCCCAGCCCTCTCCCCGCCCATATATGTAGGGCAGCAGCAGGATGGGCTTCTGGACTTGGGCGGCCCCTCCGCAGGCGGACCGGGGGCAAAGGAGGTGGCATGTCGGTCAGGCACAGCAGGGTCCTGTGTCCGCGCTGAGCCGCGCTCTCCCTGCTCCAGCAAGGACCATGAGGGCGCTGGAGGGGCCAGGCCTGTCGCTGCTGTGCCTGGTGTTGGCGCTGCCTGCCCTGCTGCCGGTGCCGGCTGTACGCGGAGTGGCAGAAACACCCACCTACCCCTGGCGGGACGCAGAGACAGGGGAGCGGCTGGTGTGCGCCCAGTGCCCCCCAGGCACCTTTGTGCAGCGGCCGTGCCGCCGAGACAGCCCCACGACGTGTGGCCCGTGTCCACCGCGCCACTACACGCAGTTCTGGAACTACCTAGAGCGCTGCCGCTACTGCAACGTCCTCTGCGGGGAGCGTGAGGAGGAGGCACGGGCTTGCCACGCCACCCACAACCGTGCCTGCCGCTGCCGCACCGGCTTCTTCGCGCACGCTGGTTTCTGCTTGGAGCACGCATCGTGTCCACCTGGTGCCGGCGTGATTGCCCCGGGTGAGAGCTGGGCGAGGGGAGGGGCCCCCAGGAGTGGTGGCCGGAGGTGTGGCAGGGGTCAGGTTGCTGGTCCCAGCCTTGCACCCTGAGCTAGGACACCAGTTCCCCTGACCCTGTTCTTCCCTCCTGGCTGCAGGCACCCCCAGCCAGAACACGCAGTGCCAGCCGTGCCCCCCAGGCACCTTCTCAGCCAGCAGCTCCAGCTCAGAGCAGTGCCAGCCCCACCGCAACTGCACGGC
|
GGGCCAGAGTCCTGGGCTGCTTGGGGTGGGCATCCTCGGGCCCTGCTTGGCCCCGCCTCTCTGTTCCCCTATGGGAGTGATGGGGGCCTCCACCTCCACCACCAGCACCAGCAGCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATGCACAGCCCTGTCCCTGCCATAGCCCCGACCCCTAAGCACAGCCCTGTCCAACTGCCACACGTCCCCTGCCTCCCATGCATGGTCCTGGGGGGTCAACTGCACACGCCAGGGTCCTAGGGTCCTAGACCCCTGTCCTCCCTGTTTCTGCCTCTGTTTGGGGTGGAGTCCAAGTCTCCAGAGGCGGAAGCATCTGTGTTCGTGTGTTAATGAACAGCCCCTACAGAGTTCCCCTAGTTCACCCAGGGGGGAACCTAGCCTGTTGGGACGACCCCAGATCCCTTCTGGGCTTGGTACTCACTGGGATATCCTCATGCCTGCACCCAGCCTACGGCTCTGAGCTCCTGAGTGGGGCTTTGGCCTGCCCGCCACTGTTCCAGCCCCCATCCAGCAGGCTGGTGTCTCCTCTGATGCCCCCAGCACCCAGGCGTGTACCTGCCTGGGTTTTCCCGCCCTGGTCTGAGGTGGGTGAGGCCTGGCCTCCCTAGCCAGCCCTGCCCCCCCACCCCAGGGAACTTTCCAGATGCTCTCGACCAGCTTTGTGGCTCTACATCTCTTCATCAGGAAGAACGGCGCCGGATCCCAAGCTGACCGTGTCCACGGCTGCAGCCCAGCAGCTGGACCCCCAAGAGCACCTGAACCAGGGCAGGCCCCACCTGTCGCCCAGGCCACCCCCAACAGGTAGCTGACTCCTGAACCGTGTGCAGCCTACGACTTGGTGGGTCCCTCAGTGGCTTCACGAGGCTAACTCTTGAGTGTGGCCGGGGCTGCCCCTGTGGGGAGCCATCTCATGGTGGGGACTGCTCCCGGTTCTGCACCCCGCAGTTGTCCTGAGCAGCTCTCCAGGAGTTCCTGGAGGAAGGGCGGGCAGGGCGGTGGGACTCTCAGTCCTCCACCCCAGCGCCACTCTGAGCCATGCTACTCCCACACCAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGTGCCCAGAGCAGGGAAGCAGGGCCAGCACGCCGTGAGCGCCTACCTGGCTGATGCCCGCAGGGCCCTGGGGTCCGCGGGCTGTAGCCAACTCTTGGCAGCGCTGACAGCCTATAAGCAAGACGACGACCTCGACAAGGTGCTGGCTGTGTTGGCCGCCCTGACCACTGCAAAGCCAGAGGACTTCCCCCTGCTGCACAGCAAGTGGCCCTGGCGTGGGGAACAGCCGGTGGGGTGGGGGGCAGGGGACAAAATGGGGGCTGTGCCGGGTCTGATTGAAGCTCCCCGCAGGGTTCAGCATGTTTGTGCGTCCACACCACAAGCAGCGCTTCTCACAGACGTGCACAGACCTGACCGGCCGGCCCTACCCGGGCATGGAGCCACCGGGACCCCAGGAGGAGAGGCTTGCCGTGCCTCCTGTGCTTACCCACAGGGCTCCCCAACCAGGTAGGGCACCTGCCTGGCTGCTCCTGGCAGCGCCCCAACCGCACGCAGCCCTGGGAGTGAGCAGCAAAGCCCCAGGCCCCCCTCAGACTCAAGTCTCTGTCTCCAGGCCCCTCACGGTCCGAGAAGACCGGGAAGACCCAGAGCAAGATCTCGTCCTTCCTTAGAGGCCAGCAGGGACTGTGGGGGCGGGCGGTGAGGATGCAGGTCCCAGCCAGTCCTCAGGACCTCCCCACGGGCCTGCAGCATCTGAGTGGGGTGAGCCTCATGGGAGAGACATCGCTGGGCAGCAGGCCACGGGAGCTCCGGGCGGGCCCCTCTCAGCAGGCTGTGTGTGCCAGGGCTGTGGGGCAGAGGACGTGGTGCCCTTCCAGTGCCCTGCCTGTGACTTCCAGCGCTGCCAAGCCTGCTGGCAACGGCACCTTCAGGTTGGTGCCTGGCCACTACAGTTCCTGCTGGGTGTAGCCCCAGGTGATGGGCTGAGGGGGAAAGGGCAGGCCCTTGTCCTGGTGGCAACGCCTGGCAGACGTGTGCAGTGGGCCGGTTGTCTCACAGGCCTCTAGGATGTGCCCAGCCTGCCACACCGCCTCCAGGAAGCAGAGCGTCATGCAGGTCTTCTGGCCAGAGCCCCAGTGAGTGCCCACGGAGGCCCCCAGCACACCCAACGTGGCTTGATCACCTGCCTGTCCAGCTCTGGTGGGCCAAGAACCCACCCAACAGAATAGGCCAGCCCATGCCAGCCGGCTTGGCCCGCTGCAGGCCTCAGGCAGGCGGGGCCCATGGTTGGTCCCTGCGGTGGGACCGGATCTGGGCCTGCCTCTGAGAAGCCCTGAGCTACCTTGGGGTCTGGGGTGGGTTTCTGGGAAAGTGCTTCCCCAGAACTTCCCTGGCTCCTGGCCTGTGAGTGGTGCCACAGGGGCACCCCAGCTGAGCCCCTCACCGGGAAGGAGGAGACCCCCGTGGGCACGTGTCCACTTTTAATCAGGGGACAGGGCTCTCTAATAAAGCTGCTGGCAGTGCCCAGGACGGTGTCTTCGTGGCCTGGGCTTGGTGGTGGGAGTTGAGGGACAGGGAGTTGGCAGAGGCCCCTCCCAGCCTGCCATGTGACACTGTACTTCCTCCACGGTGGGCTCAGCCCTGCCCTCATCCTCACAGCCGCAGCCAAGCTGCAGTTGGTAGGGGATCCACCGACACACCAGGCTGCCTGGGCTGGTCTCTGGGTTGGGAGCTGCCCCAGGTGCTGAGGAGGGCAGCTCCCTGGCTGGTGAGGCCCCTCCCAGAACCACCCTTGGACTGAGCTCTGGGGAGGGATGGTACCAGGTGGGTGAGGGGGGCTGCCTGGGGAGGGAGGGGTTCCTATGGGGCGTGGCGAGGCTGGCCCAGCCCTCTCCCCGCCCATATATGTAGGGCAGCAGCAGGATGGGCTTCTGGACTTGGGCGGCCCCTCCGCAGGCGGACCGGGGGCAAAGGAGGTGGCATGTCGGTCAGGCACAGCAGGGTCCTGTGTCCGCGCTGAGCCGCGCTCTCCCTGCTCCAGCAAGGACCATGAGGGCGCTGGAGGGGCCAGGCCTGTCGCTGCTGTGCCTGGTGTTGGCGCTGCCTGCCCTGCTGCCGGTGCCGGCTGTACGCGGAGTGGCAGAAACACCCACCTACCCCTGGCGGGACGCAGAGACAGGGGAGCGGCTGGTGTGCGCCCAGTGCCCCCCAGGCACCTTTGTGCAGCGGCCGTGCCGCCGAGACAGCCCCACGACGTGTGGCCCGTGTCCACCGCGCCACTACACGCAGTTCTGGAACTACCTAGAGCGCTGCCGCTACTGCAACGTCCTCTGCGGGGAGCGTGAGGAGGAGGCACGGGCTTGCCACGCCACCCACAACCGTGCCTGCCGCTGCCGCACCGGCTTCTTCGCGCACGCTGGTTTCTGCTTGGAGCACGCATCGTGTCCACCTGGTGCCGGCGTGATTGCCCCGGGTGAGAGCTGGGCGAGGGGAGGGGCCCCCAGGAGTGGTGGCCGGAGGTGTGGCAGGGGTCAGGTTGCTGGTCCCAGCCTTGCACCCTGAGCTAGGACACCAGTTCCCCTGACCCTGTTCTTCCCTCCTGGCTGCAGGCACCCCCAGCCAGAACACGCAGTGCCAGCCGTGCCCCCCAGGCACCTTCTCAGCCAGCAGCTCCAGCTCAGAGCAGTGCCAGCCCCACCGCAACTGCACGGCNNNN
|
pathogenic
| 317,057 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 63695539, gene RTEL1. What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3']
|
CTCCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATGCACAGCCCTGTCCCTGCCATAGCCCCGACCCCTAAGCACAGCCCTGTCCAACTGCCACACGTCCCCTGCCTCCCATGCATGGTCCTGGGGGGTCAACTGCACACGCCAGGGTCCTAGGGTCCTAGACCCCTGTCCTCCCTGTTTCTGCCTCTGTTTGGGGTGGAGTCCAAGTCTCCAGAGGCGGAAGCATCTGTGTTCGTGTGTTAATGAACAGCCCCTACAGAGTTCCCCTAGTTCACCCAGGGGGGAACCTAGCCTGTTGGGACGACCCCAGATCCCTTCTGGGCTTGGTACTCACTGGGATATCCTCATGCCTGCACCCAGCCTACGGCTCTGAGCTCCTGAGTGGGGCTTTGGCCTGCCCGCCACTGTTCCAGCCCCCATCCAGCAGGCTGGTGTCTCCTCTGATGCCCCCAGCACCCAGGCGTGTACCTGCCTGGGTTTTCCCGCCCTGGTCTGAGGTGGGTGAGGCCTGGCCTCCCTAGCCAGCCCTGCCCCCCCACCCCAGGGAACTTTCCAGATGCTCTCGACCAGCTTTGTGGCTCTACATCTCTTCATCAGGAAGAACGGCGCCGGATCCCAAGCTGACCGTGTCCACGGCTGCAGCCCAGCAGCTGGACCCCCAAGAGCACCTGAACCAGGGCAGGCCCCACCTGTCGCCCAGGCCACCCCCAACAGGTAGCTGACTCCTGAACCGTGTGCAGCCTACGACTTGGTGGGTCCCTCAGTGGCTTCACGAGGCTAACTCTTGAGTGTGGCCGGGGCTGCCCCTGTGGGGAGCCATCTCATGGTGGGGACTGCTCCCGGTTCTGCACCCCGCAGTTGTCCTGAGCAGCTCTCCAGGAGTTCCTGGAGGAAGGGCGGGCAGGGCGGTGGGACTCTCAGTCCTCCACCCCAGCGCCACTCTGAGCCATGCTACTCCCACACCAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGTGCCCAGAGCAGGGAAGCAGGGCCAGCACGCCGTGAGCGCCTACCTGGCTGATGCCCGCAGGGCCCTGGGGTCCGCGGGCTGTAGCCAACTCTTGGCAGCGCTGACAGCCTATAAGCAAGACGACGACCTCGACAAGGTGCTGGCTGTGTTGGCCGCCCTGACCACTGCAAAGCCAGAGGACTTCCCCCTGCTGCACAGCAAGTGGCCCTGGCGTGGGGAACAGCCGGTGGGGTGGGGGGCAGGGGACAAAATGGGGGCTGTGCCGGGTCTGATTGAAGCTCCCCGCAGGGTTCAGCATGTTTGTGCGTCCACACCACAAGCAGCGCTTCTCACAGACGTGCACAGACCTGACCGGCCGGCCCTACCCGGGCATGGAGCCACCGGGACCCCAGGAGGAGAGGCTTGCCGTGCCTCCTGTGCTTACCCACAGGGCTCCCCAACCAGGTAGGGCACCTGCCTGGCTGCTCCTGGCAGCGCCCCAACCGCACGCAGCCCTGGGAGTGAGCAGCAAAGCCCCAGGCCCCCCTCAGACTCAAGTCTCTGTCTCCAGGCCCCTCACGGTCCGAGAAGACCGGGAAGACCCAGAGCAAGATCTCGTCCTTCCTTAGACAGAGGCCAGCAGGGACTGTGGGGGCGGGCGGTGAGGATGCAGGTCCCAGCCAGTCCTCAGGACCTCCCCACGGGCCTGCAGCATCTGAGTGGGGTGAGCCTCATGGGAGAGACATCGCTGGGCAGCAGGCCACGGGAGCTCCGGGCGGGCCCCTCTCAGCAGGCTGTGTGTGCCAGGGCTGTGGGGCAGAGGACGTGGTGCCCTTCCAGTGCCCTGCCTGTGACTTCCAGCGCTGCCAAGCCTGCTGGCAACGGCACCTTCAGGTTGGTGCCTGGCCACTACAGTTCCTGCTGGGTGTAGCCCCAGGTGATGGGCTGAGGGGGAAAGGGCAGGCCCTTGTCCTGGTGGCAACGCCTGGCAGACGTGTGCAGTGGGCCGGTTGTCTCACAGGCCTCTAGGATGTGCCCAGCCTGCCACACCGCCTCCAGGAAGCAGAGCGTCATGCAGGTCTTCTGGCCAGAGCCCCAGTGAGTGCCCACGGAGGCCCCCAGCACACCCAACGTGGCTTGATCACCTGCCTGTCCAGCTCTGGTGGGCCAAGAACCCACCCAACAGAATAGGCCAGCCCATGCCAGCCGGCTTGGCCCGCTGCAGGCCTCAGGCAGGCGGGGCCCATGGTTGGTCCCTGCGGTGGGACCGGATCTGGGCCTGCCTCTGAGAAGCCCTGAGCTACCTTGGGGTCTGGGGTGGGTTTCTGGGAAAGTGCTTCCCCAGAACTTCCCTGGCTCCTGGCCTGTGAGTGGTGCCACAGGGGCACCCCAGCTGAGCCCCTCACCGGGAAGGAGGAGACCCCCGTGGGCACGTGTCCACTTTTAATCAGGGGACAGGGCTCTCTAATAAAGCTGCTGGCAGTGCCCAGGACGGTGTCTTCGTGGCCTGGGCTTGGTGGTGGGAGTTGAGGGACAGGGAGTTGGCAGAGGCCCCTCCCAGCCTGCCATGTGACACTGTACTTCCTCCACGGTGGGCTCAGCCCTGCCCTCATCCTCACAGCCGCAGCCAAGCTGCAGTTGGTAGGGGATCCACCGACACACCAGGCTGCCTGGGCTGGTCTCTGGGTTGGGAGCTGCCCCAGGTGCTGAGGAGGGCAGCTCCCTGGCTGGTGAGGCCCCTCCCAGAACCACCCTTGGACTGAGCTCTGGGGAGGGATGGTACCAGGTGGGTGAGGGGGGCTGCCTGGGGAGGGAGGGGTTCCTATGGGGCGTGGCGAGGCTGGCCCAGCCCTCTCCCCGCCCATATATGTAGGGCAGCAGCAGGATGGGCTTCTGGACTTGGGCGGCCCCTCCGCAGGCGGACCGGGGGCAAAGGAGGTGGCATGTCGGTCAGGCACAGCAGGGTCCTGTGTCCGCGCTGAGCCGCGCTCTCCCTGCTCCAGCAAGGACCATGAGGGCGCTGGAGGGGCCAGGCCTGTCGCTGCTGTGCCTGGTGTTGGCGCTGCCTGCCCTGCTGCCGGTGCCGGCTGTACGCGGAGTGGCAGAAACACCCACCTACCCCTGGCGGGACGCAGAGACAGGGGAGCGGCTGGTGTGCGCCCAGTGCCCCCCAGGCACCTTTGTGCAGCGGCCGTGCCGCCGAGACAGCCCCACGACGTGTGGCCCGTGTCCACCGCGCCACTACACGCAGTTCTGGAACTACCTAGAGCGCTGCCGCTACTGCAACGTCCTCTGCGGGGAGCGTGAGGAGGAGGCACGGGCTTGCCACGCCACCCACAACCGTGCCTGCCGCTGCCGCACCGGCTTCTTCGCGCACGCTGGTTTCTGCTTGGAGCACGCATCGTGTCCACCTGGTGCCGGCGTGATTGCCCCGGGTGAGAGCTGGGCGAGGGGAGGGGCCCCCAGGAGTGGTGGCCGGAGGTGTGGCAGGGGTCAGGTTGCTGGTCCCAGCCTTGCACCCTGAGCTAGGACACCAGTTCCCCTGACCCTGTTCTTCCCTCCTGGCTGCAGGCACCCCCAGCCAGAACACGCAGTGCCAGCCGTGCCCCCCAGGCACCTTCTCAGCCAGCAGCTCCAGCTCAGAGCAGTGCCAGCCCCACCGCAACTGCACGGCCCTGGGCCTGGCCCTCAATGTGCCAGGCTCTTCCTCCCATGACACCCTGTGCACCAGCTGCACTGGCTTCCCCCTCAGCACCAGGGTACCAGGTGAGCCAGAGGCCTGAGGGGGCAGCACACTGCAGGCCAGGCCCACTTGTGCCCTCACTCCTGC
|
CTCCACCTCCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATGCACAGCCCTGTCCCTGCCATAGCCCCGACCCCTAAGCACAGCCCTGTCCAACTGCCACACGTCCCCTGCCTCCCATGCATGGTCCTGGGGGGTCAACTGCACACGCCAGGGTCCTAGGGTCCTAGACCCCTGTCCTCCCTGTTTCTGCCTCTGTTTGGGGTGGAGTCCAAGTCTCCAGAGGCGGAAGCATCTGTGTTCGTGTGTTAATGAACAGCCCCTACAGAGTTCCCCTAGTTCACCCAGGGGGGAACCTAGCCTGTTGGGACGACCCCAGATCCCTTCTGGGCTTGGTACTCACTGGGATATCCTCATGCCTGCACCCAGCCTACGGCTCTGAGCTCCTGAGTGGGGCTTTGGCCTGCCCGCCACTGTTCCAGCCCCCATCCAGCAGGCTGGTGTCTCCTCTGATGCCCCCAGCACCCAGGCGTGTACCTGCCTGGGTTTTCCCGCCCTGGTCTGAGGTGGGTGAGGCCTGGCCTCCCTAGCCAGCCCTGCCCCCCCACCCCAGGGAACTTTCCAGATGCTCTCGACCAGCTTTGTGGCTCTACATCTCTTCATCAGGAAGAACGGCGCCGGATCCCAAGCTGACCGTGTCCACGGCTGCAGCCCAGCAGCTGGACCCCCAAGAGCACCTGAACCAGGGCAGGCCCCACCTGTCGCCCAGGCCACCCCCAACAGGTAGCTGACTCCTGAACCGTGTGCAGCCTACGACTTGGTGGGTCCCTCAGTGGCTTCACGAGGCTAACTCTTGAGTGTGGCCGGGGCTGCCCCTGTGGGGAGCCATCTCATGGTGGGGACTGCTCCCGGTTCTGCACCCCGCAGTTGTCCTGAGCAGCTCTCCAGGAGTTCCTGGAGGAAGGGCGGGCAGGGCGGTGGGACTCTCAGTCCTCCACCCCAGCGCCACTCTGAGCCATGCTACTCCCACACCAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGTGCCCAGAGCAGGGAAGCAGGGCCAGCACGCCGTGAGCGCCTACCTGGCTGATGCCCGCAGGGCCCTGGGGTCCGCGGGCTGTAGCCAACTCTTGGCAGCGCTGACAGCCTATAAGCAAGACGACGACCTCGACAAGGTGCTGGCTGTGTTGGCCGCCCTGACCACTGCAAAGCCAGAGGACTTCCCCCTGCTGCACAGCAAGTGGCCCTGGCGTGGGGAACAGCCGGTGGGGTGGGGGGCAGGGGACAAAATGGGGGCTGTGCCGGGTCTGATTGAAGCTCCCCGCAGGGTTCAGCATGTTTGTGCGTCCACACCACAAGCAGCGCTTCTCACAGACGTGCACAGACCTGACCGGCCGGCCCTACCCGGGCATGGAGCCACCGGGACCCCAGGAGGAGAGGCTTGCCGTGCCTCCTGTGCTTACCCACAGGGCTCCCCAACCAGGTAGGGCACCTGCCTGGCTGCTCCTGGCAGCGCCCCAACCGCACGCAGCCCTGGGAGTGAGCAGCAAAGCCCCAGGCCCCCCTCAGACTCAAGTCTCTGTCTCCAGGCCCCTCACGGTCCGAGAAGACCGGGAAGACCCAGAGCAAGATCTCGTCCTTCCTTAGACAGAGGCCAGCAGGGACTGTGGGGGCGGGCGGTGAGGATGCAGGTCCCAGCCAGTCCTCAGGACCTCCCCACGGGCCTGCAGCATCTGAGTGGGGTGAGCCTCATGGGAGAGACATCGCTGGGCAGCAGGCCACGGGAGCTCCGGGCGGGCCCCTCAGCAGGCTGTGTGTGCCAGGGCTGTGGGGCAGAGGACGTGGTGCCCTTCCAGTGCCCTGCCTGTGACTTCCAGCGCTGCCAAGCCTGCTGGCAACGGCACCTTCAGGTTGGTGCCTGGCCACTACAGTTCCTGCTGGGTGTAGCCCCAGGTGATGGGCTGAGGGGGAAAGGGCAGGCCCTTGTCCTGGTGGCAACGCCTGGCAGACGTGTGCAGTGGGCCGGTTGTCTCACAGGCCTCTAGGATGTGCCCAGCCTGCCACACCGCCTCCAGGAAGCAGAGCGTCATGCAGGTCTTCTGGCCAGAGCCCCAGTGAGTGCCCACGGAGGCCCCCAGCACACCCAACGTGGCTTGATCACCTGCCTGTCCAGCTCTGGTGGGCCAAGAACCCACCCAACAGAATAGGCCAGCCCATGCCAGCCGGCTTGGCCCGCTGCAGGCCTCAGGCAGGCGGGGCCCATGGTTGGTCCCTGCGGTGGGACCGGATCTGGGCCTGCCTCTGAGAAGCCCTGAGCTACCTTGGGGTCTGGGGTGGGTTTCTGGGAAAGTGCTTCCCCAGAACTTCCCTGGCTCCTGGCCTGTGAGTGGTGCCACAGGGGCACCCCAGCTGAGCCCCTCACCGGGAAGGAGGAGACCCCCGTGGGCACGTGTCCACTTTTAATCAGGGGACAGGGCTCTCTAATAAAGCTGCTGGCAGTGCCCAGGACGGTGTCTTCGTGGCCTGGGCTTGGTGGTGGGAGTTGAGGGACAGGGAGTTGGCAGAGGCCCCTCCCAGCCTGCCATGTGACACTGTACTTCCTCCACGGTGGGCTCAGCCCTGCCCTCATCCTCACAGCCGCAGCCAAGCTGCAGTTGGTAGGGGATCCACCGACACACCAGGCTGCCTGGGCTGGTCTCTGGGTTGGGAGCTGCCCCAGGTGCTGAGGAGGGCAGCTCCCTGGCTGGTGAGGCCCCTCCCAGAACCACCCTTGGACTGAGCTCTGGGGAGGGATGGTACCAGGTGGGTGAGGGGGGCTGCCTGGGGAGGGAGGGGTTCCTATGGGGCGTGGCGAGGCTGGCCCAGCCCTCTCCCCGCCCATATATGTAGGGCAGCAGCAGGATGGGCTTCTGGACTTGGGCGGCCCCTCCGCAGGCGGACCGGGGGCAAAGGAGGTGGCATGTCGGTCAGGCACAGCAGGGTCCTGTGTCCGCGCTGAGCCGCGCTCTCCCTGCTCCAGCAAGGACCATGAGGGCGCTGGAGGGGCCAGGCCTGTCGCTGCTGTGCCTGGTGTTGGCGCTGCCTGCCCTGCTGCCGGTGCCGGCTGTACGCGGAGTGGCAGAAACACCCACCTACCCCTGGCGGGACGCAGAGACAGGGGAGCGGCTGGTGTGCGCCCAGTGCCCCCCAGGCACCTTTGTGCAGCGGCCGTGCCGCCGAGACAGCCCCACGACGTGTGGCCCGTGTCCACCGCGCCACTACACGCAGTTCTGGAACTACCTAGAGCGCTGCCGCTACTGCAACGTCCTCTGCGGGGAGCGTGAGGAGGAGGCACGGGCTTGCCACGCCACCCACAACCGTGCCTGCCGCTGCCGCACCGGCTTCTTCGCGCACGCTGGTTTCTGCTTGGAGCACGCATCGTGTCCACCTGGTGCCGGCGTGATTGCCCCGGGTGAGAGCTGGGCGAGGGGAGGGGCCCCCAGGAGTGGTGGCCGGAGGTGTGGCAGGGGTCAGGTTGCTGGTCCCAGCCTTGCACCCTGAGCTAGGACACCAGTTCCCCTGACCCTGTTCTTCCCTCCTGGCTGCAGGCACCCCCAGCCAGAACACGCAGTGCCAGCCGTGCCCCCCAGGCACCTTCTCAGCCAGCAGCTCCAGCTCAGAGCAGTGCCAGCCCCACCGCAACTGCACGGCCCTGGGCCTGGCCCTCAATGTGCCAGGCTCTTCCTCCCATGACACCCTGTGCACCAGCTGCACTGGCTTCCCCCTCAGCACCAGGGTACCAGGTGAGCCAGAGGCCTGAGGGGGCAGCACACTGCAGGCCAGGCCCACTTGTGCCCTCACTCCTGCNN
|
pathogenic
| 317,076 |
Variant in gene RTEL1, located at chromosome 20 position 63695551: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Dyskeratosis_congenita,_autosomal_recessive_5', 'Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3', 'RTEL1-related_disorder']
|
CACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATGCACAGCCCTGTCCCTGCCATAGCCCCGACCCCTAAGCACAGCCCTGTCCAACTGCCACACGTCCCCTGCCTCCCATGCATGGTCCTGGGGGGTCAACTGCACACGCCAGGGTCCTAGGGTCCTAGACCCCTGTCCTCCCTGTTTCTGCCTCTGTTTGGGGTGGAGTCCAAGTCTCCAGAGGCGGAAGCATCTGTGTTCGTGTGTTAATGAACAGCCCCTACAGAGTTCCCCTAGTTCACCCAGGGGGGAACCTAGCCTGTTGGGACGACCCCAGATCCCTTCTGGGCTTGGTACTCACTGGGATATCCTCATGCCTGCACCCAGCCTACGGCTCTGAGCTCCTGAGTGGGGCTTTGGCCTGCCCGCCACTGTTCCAGCCCCCATCCAGCAGGCTGGTGTCTCCTCTGATGCCCCCAGCACCCAGGCGTGTACCTGCCTGGGTTTTCCCGCCCTGGTCTGAGGTGGGTGAGGCCTGGCCTCCCTAGCCAGCCCTGCCCCCCCACCCCAGGGAACTTTCCAGATGCTCTCGACCAGCTTTGTGGCTCTACATCTCTTCATCAGGAAGAACGGCGCCGGATCCCAAGCTGACCGTGTCCACGGCTGCAGCCCAGCAGCTGGACCCCCAAGAGCACCTGAACCAGGGCAGGCCCCACCTGTCGCCCAGGCCACCCCCAACAGGTAGCTGACTCCTGAACCGTGTGCAGCCTACGACTTGGTGGGTCCCTCAGTGGCTTCACGAGGCTAACTCTTGAGTGTGGCCGGGGCTGCCCCTGTGGGGAGCCATCTCATGGTGGGGACTGCTCCCGGTTCTGCACCCCGCAGTTGTCCTGAGCAGCTCTCCAGGAGTTCCTGGAGGAAGGGCGGGCAGGGCGGTGGGACTCTCAGTCCTCCACCCCAGCGCCACTCTGAGCCATGCTACTCCCACACCAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGTGCCCAGAGCAGGGAAGCAGGGCCAGCACGCCGTGAGCGCCTACCTGGCTGATGCCCGCAGGGCCCTGGGGTCCGCGGGCTGTAGCCAACTCTTGGCAGCGCTGACAGCCTATAAGCAAGACGACGACCTCGACAAGGTGCTGGCTGTGTTGGCCGCCCTGACCACTGCAAAGCCAGAGGACTTCCCCCTGCTGCACAGCAAGTGGCCCTGGCGTGGGGAACAGCCGGTGGGGTGGGGGGCAGGGGACAAAATGGGGGCTGTGCCGGGTCTGATTGAAGCTCCCCGCAGGGTTCAGCATGTTTGTGCGTCCACACCACAAGCAGCGCTTCTCACAGACGTGCACAGACCTGACCGGCCGGCCCTACCCGGGCATGGAGCCACCGGGACCCCAGGAGGAGAGGCTTGCCGTGCCTCCTGTGCTTACCCACAGGGCTCCCCAACCAGGTAGGGCACCTGCCTGGCTGCTCCTGGCAGCGCCCCAACCGCACGCAGCCCTGGGAGTGAGCAGCAAAGCCCCAGGCCCCCCTCAGACTCAAGTCTCTGTCTCCAGGCCCCTCACGGTCCGAGAAGACCGGGAAGACCCAGAGCAAGATCTCGTCCTTCCTTAGACAGAGGCCAGCAGGGACTGTGGGGGCGGGCGGTGAGGATGCAGGTCCCAGCCAGTCCTCAGGACCTCCCCACGGGCCTGCAGCATCTGAGTGGGGTGAGCCTCATGGGAGAGACATCGCTGGGCAGCAGGCCACGGGAGCTCCGGGCGGGCCCCTCTCAGCAGGCTGTGTGTGCCAGGGCTGTGGGGCAGAGGACGTGGTGCCCTTCCAGTGCCCTGCCTGTGACTTCCAGCGCTGCCAAGCCTGCTGGCAACGGCACCTTCAGGTTGGTGCCTGGCCACTACAGTTCCTGCTGGGTGTAGCCCCAGGTGATGGGCTGAGGGGGAAAGGGCAGGCCCTTGTCCTGGTGGCAACGCCTGGCAGACGTGTGCAGTGGGCCGGTTGTCTCACAGGCCTCTAGGATGTGCCCAGCCTGCCACACCGCCTCCAGGAAGCAGAGCGTCATGCAGGTCTTCTGGCCAGAGCCCCAGTGAGTGCCCACGGAGGCCCCCAGCACACCCAACGTGGCTTGATCACCTGCCTGTCCAGCTCTGGTGGGCCAAGAACCCACCCAACAGAATAGGCCAGCCCATGCCAGCCGGCTTGGCCCGCTGCAGGCCTCAGGCAGGCGGGGCCCATGGTTGGTCCCTGCGGTGGGACCGGATCTGGGCCTGCCTCTGAGAAGCCCTGAGCTACCTTGGGGTCTGGGGTGGGTTTCTGGGAAAGTGCTTCCCCAGAACTTCCCTGGCTCCTGGCCTGTGAGTGGTGCCACAGGGGCACCCCAGCTGAGCCCCTCACCGGGAAGGAGGAGACCCCCGTGGGCACGTGTCCACTTTTAATCAGGGGACAGGGCTCTCTAATAAAGCTGCTGGCAGTGCCCAGGACGGTGTCTTCGTGGCCTGGGCTTGGTGGTGGGAGTTGAGGGACAGGGAGTTGGCAGAGGCCCCTCCCAGCCTGCCATGTGACACTGTACTTCCTCCACGGTGGGCTCAGCCCTGCCCTCATCCTCACAGCCGCAGCCAAGCTGCAGTTGGTAGGGGATCCACCGACACACCAGGCTGCCTGGGCTGGTCTCTGGGTTGGGAGCTGCCCCAGGTGCTGAGGAGGGCAGCTCCCTGGCTGGTGAGGCCCCTCCCAGAACCACCCTTGGACTGAGCTCTGGGGAGGGATGGTACCAGGTGGGTGAGGGGGGCTGCCTGGGGAGGGAGGGGTTCCTATGGGGCGTGGCGAGGCTGGCCCAGCCCTCTCCCCGCCCATATATGTAGGGCAGCAGCAGGATGGGCTTCTGGACTTGGGCGGCCCCTCCGCAGGCGGACCGGGGGCAAAGGAGGTGGCATGTCGGTCAGGCACAGCAGGGTCCTGTGTCCGCGCTGAGCCGCGCTCTCCCTGCTCCAGCAAGGACCATGAGGGCGCTGGAGGGGCCAGGCCTGTCGCTGCTGTGCCTGGTGTTGGCGCTGCCTGCCCTGCTGCCGGTGCCGGCTGTACGCGGAGTGGCAGAAACACCCACCTACCCCTGGCGGGACGCAGAGACAGGGGAGCGGCTGGTGTGCGCCCAGTGCCCCCCAGGCACCTTTGTGCAGCGGCCGTGCCGCCGAGACAGCCCCACGACGTGTGGCCCGTGTCCACCGCGCCACTACACGCAGTTCTGGAACTACCTAGAGCGCTGCCGCTACTGCAACGTCCTCTGCGGGGAGCGTGAGGAGGAGGCACGGGCTTGCCACGCCACCCACAACCGTGCCTGCCGCTGCCGCACCGGCTTCTTCGCGCACGCTGGTTTCTGCTTGGAGCACGCATCGTGTCCACCTGGTGCCGGCGTGATTGCCCCGGGTGAGAGCTGGGCGAGGGGAGGGGCCCCCAGGAGTGGTGGCCGGAGGTGTGGCAGGGGTCAGGTTGCTGGTCCCAGCCTTGCACCCTGAGCTAGGACACCAGTTCCCCTGACCCTGTTCTTCCCTCCTGGCTGCAGGCACCCCCAGCCAGAACACGCAGTGCCAGCCGTGCCCCCCAGGCACCTTCTCAGCCAGCAGCTCCAGCTCAGAGCAGTGCCAGCCCCACCGCAACTGCACGGCCCTGGGCCTGGCCCTCAATGTGCCAGGCTCTTCCTCCCATGACACCCTGTGCACCAGCTGCACTGGCTTCCCCCTCAGCACCAGGGTACCAGGTGAGCCAGAGGCCTGAGGGGGCAGCACACTGCAGGCCAGGCCCACTTGTGCCCTCACTCCTGCCCCTGCACGTGC
|
CACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTCCACCAGCAGCAGCATCACTTGTTGGGGAGACCCTGTGCAACTCCATGCACAGCCCTGTCCCTGCCATAGCCCCGACCCCTAAGCACAGCCCTGTCCAACTGCCACACGTCCCCTGCCTCCCATGCATGGTCCTGGGGGGTCAACTGCACACGCCAGGGTCCTAGGGTCCTAGACCCCTGTCCTCCCTGTTTCTGCCTCTGTTTGGGGTGGAGTCCAAGTCTCCAGAGGCGGAAGCATCTGTGTTCGTGTGTTAATGAACAGCCCCTACAGAGTTCCCCTAGTTCACCCAGGGGGGAACCTAGCCTGTTGGGACGACCCCAGATCCCTTCTGGGCTTGGTACTCACTGGGATATCCTCATGCCTGCACCCAGCCTACGGCTCTGAGCTCCTGAGTGGGGCTTTGGCCTGCCCGCCACTGTTCCAGCCCCCATCCAGCAGGCTGGTGTCTCCTCTGATGCCCCCAGCACCCAGGCGTGTACCTGCCTGGGTTTTCCCGCCCTGGTCTGAGGTGGGTGAGGCCTGGCCTCCCTAGCCAGCCCTGCCCCCCCACCCCAGGGAACTTTCCAGATGCTCTCGACCAGCTTTGTGGCTCTACATCTCTTCATCAGGAAGAACGGCGCCGGATCCCAAGCTGACCGTGTCCACGGCTGCAGCCCAGCAGCTGGACCCCCAAGAGCACCTGAACCAGGGCAGGCCCCACCTGTCGCCCAGGCCACCCCCAACAGGTAGCTGACTCCTGAACCGTGTGCAGCCTACGACTTGGTGGGTCCCTCAGTGGCTTCACGAGGCTAACTCTTGAGTGTGGCCGGGGCTGCCCCTGTGGGGAGCCATCTCATGGTGGGGACTGCTCCCGGTTCTGCACCCCGCAGTTGTCCTGAGCAGCTCTCCAGGAGTTCCTGGAGGAAGGGCGGGCAGGGCGGTGGGACTCTCAGTCCTCCACCCCAGCGCCACTCTGAGCCATGCTACTCCCACACCAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGTGCCCAGAGCAGGGAAGCAGGGCCAGCACGCCGTGAGCGCCTACCTGGCTGATGCCCGCAGGGCCCTGGGGTCCGCGGGCTGTAGCCAACTCTTGGCAGCGCTGACAGCCTATAAGCAAGACGACGACCTCGACAAGGTGCTGGCTGTGTTGGCCGCCCTGACCACTGCAAAGCCAGAGGACTTCCCCCTGCTGCACAGCAAGTGGCCCTGGCGTGGGGAACAGCCGGTGGGGTGGGGGGCAGGGGACAAAATGGGGGCTGTGCCGGGTCTGATTGAAGCTCCCCGCAGGGTTCAGCATGTTTGTGCGTCCACACCACAAGCAGCGCTTCTCACAGACGTGCACAGACCTGACCGGCCGGCCCTACCCGGGCATGGAGCCACCGGGACCCCAGGAGGAGAGGCTTGCCGTGCCTCCTGTGCTTACCCACAGGGCTCCCCAACCAGGTAGGGCACCTGCCTGGCTGCTCCTGGCAGCGCCCCAACCGCACGCAGCCCTGGGAGTGAGCAGCAAAGCCCCAGGCCCCCCTCAGACTCAAGTCTCTGTCTCCAGGCCCCTCACGGTCCGAGAAGACCGGGAAGACCCAGAGCAAGATCTCGTCCTTCCTTAGACAGAGGCCAGCAGGGACTGTGGGGGCGGGCGGTGAGGATGCAGGTCCCAGCCAGTCCTCAGGACCTCCCCACGGGCCTGCAGCATCTGAGTGGGGTGAGCCTCATGGGAGAGACATCGCTGGGCAGCAGGCCACGGGAGCTCCGGGCGGGCCCCTCTCAGCAGGCTGTGTGCCAGGGCTGTGGGGCAGAGGACGTGGTGCCCTTCCAGTGCCCTGCCTGTGACTTCCAGCGCTGCCAAGCCTGCTGGCAACGGCACCTTCAGGTTGGTGCCTGGCCACTACAGTTCCTGCTGGGTGTAGCCCCAGGTGATGGGCTGAGGGGGAAAGGGCAGGCCCTTGTCCTGGTGGCAACGCCTGGCAGACGTGTGCAGTGGGCCGGTTGTCTCACAGGCCTCTAGGATGTGCCCAGCCTGCCACACCGCCTCCAGGAAGCAGAGCGTCATGCAGGTCTTCTGGCCAGAGCCCCAGTGAGTGCCCACGGAGGCCCCCAGCACACCCAACGTGGCTTGATCACCTGCCTGTCCAGCTCTGGTGGGCCAAGAACCCACCCAACAGAATAGGCCAGCCCATGCCAGCCGGCTTGGCCCGCTGCAGGCCTCAGGCAGGCGGGGCCCATGGTTGGTCCCTGCGGTGGGACCGGATCTGGGCCTGCCTCTGAGAAGCCCTGAGCTACCTTGGGGTCTGGGGTGGGTTTCTGGGAAAGTGCTTCCCCAGAACTTCCCTGGCTCCTGGCCTGTGAGTGGTGCCACAGGGGCACCCCAGCTGAGCCCCTCACCGGGAAGGAGGAGACCCCCGTGGGCACGTGTCCACTTTTAATCAGGGGACAGGGCTCTCTAATAAAGCTGCTGGCAGTGCCCAGGACGGTGTCTTCGTGGCCTGGGCTTGGTGGTGGGAGTTGAGGGACAGGGAGTTGGCAGAGGCCCCTCCCAGCCTGCCATGTGACACTGTACTTCCTCCACGGTGGGCTCAGCCCTGCCCTCATCCTCACAGCCGCAGCCAAGCTGCAGTTGGTAGGGGATCCACCGACACACCAGGCTGCCTGGGCTGGTCTCTGGGTTGGGAGCTGCCCCAGGTGCTGAGGAGGGCAGCTCCCTGGCTGGTGAGGCCCCTCCCAGAACCACCCTTGGACTGAGCTCTGGGGAGGGATGGTACCAGGTGGGTGAGGGGGGCTGCCTGGGGAGGGAGGGGTTCCTATGGGGCGTGGCGAGGCTGGCCCAGCCCTCTCCCCGCCCATATATGTAGGGCAGCAGCAGGATGGGCTTCTGGACTTGGGCGGCCCCTCCGCAGGCGGACCGGGGGCAAAGGAGGTGGCATGTCGGTCAGGCACAGCAGGGTCCTGTGTCCGCGCTGAGCCGCGCTCTCCCTGCTCCAGCAAGGACCATGAGGGCGCTGGAGGGGCCAGGCCTGTCGCTGCTGTGCCTGGTGTTGGCGCTGCCTGCCCTGCTGCCGGTGCCGGCTGTACGCGGAGTGGCAGAAACACCCACCTACCCCTGGCGGGACGCAGAGACAGGGGAGCGGCTGGTGTGCGCCCAGTGCCCCCCAGGCACCTTTGTGCAGCGGCCGTGCCGCCGAGACAGCCCCACGACGTGTGGCCCGTGTCCACCGCGCCACTACACGCAGTTCTGGAACTACCTAGAGCGCTGCCGCTACTGCAACGTCCTCTGCGGGGAGCGTGAGGAGGAGGCACGGGCTTGCCACGCCACCCACAACCGTGCCTGCCGCTGCCGCACCGGCTTCTTCGCGCACGCTGGTTTCTGCTTGGAGCACGCATCGTGTCCACCTGGTGCCGGCGTGATTGCCCCGGGTGAGAGCTGGGCGAGGGGAGGGGCCCCCAGGAGTGGTGGCCGGAGGTGTGGCAGGGGTCAGGTTGCTGGTCCCAGCCTTGCACCCTGAGCTAGGACACCAGTTCCCCTGACCCTGTTCTTCCCTCCTGGCTGCAGGCACCCCCAGCCAGAACACGCAGTGCCAGCCGTGCCCCCCAGGCACCTTCTCAGCCAGCAGCTCCAGCTCAGAGCAGTGCCAGCCCCACCGCAACTGCACGGCCCTGGGCCTGGCCCTCAATGTGCCAGGCTCTTCCTCCCATGACACCCTGTGCACCAGCTGCACTGGCTTCCCCCTCAGCACCAGGGTACCAGGTGAGCCAGAGGCCTGAGGGGGCAGCACACTGCAGGCCAGGCCCACTTGTGCCCTCACTCCTGCCCCTGCACGTGCNN
|
pathogenic
| 317,079 |
Is the genetic mutation found on chromosome 20 at position 63895194, within the gene DNAJC5, considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
benign
|
GCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAGGTGATCCGCCCACCCCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGGCGTACCTTCCTGTCTTATTTTCTCCAAGCAGGCTGGAATGTTCATGGATAGATATATGTGTGATAATATACTTTTTACATATCATGCATCGTGCTCATTTTAGTTTCAGGAGTTCTTTGCTCCTGTGTAGCCTTTCTACACATTATCTTTCTTTTTTTCTTCTTTTTAAATAAGAGATGGGGTCTTGCTCTGTCACCCAGGCAGGAATGCAGTGGCACAATCATGGCTCACTACAGCCTTGACTTCCCACCCGATCCAGCCTCCTGAGTAGCTGGGACTACAGGGGCATGCATGCCACTGTGGCCGGGCCAATTAAAAAAATTTTTTTTTATAGAGATGGTGGTCTCACTATGTTGTCCAGGCAGGTCTCAAACTCCTGGGCTCCAGTGATCTTCCTGCCTTGGTCTACCAAAGTGCTGAGATTCCAGGCGTGAGCCATGGGTCCCGTTGTATACATTTCAGTAACTATATTATTCCATTTGAGTGCTCACTTGTGCAGTTGGGCAGGTTTCCATTCTCGCTATTAAAAATAGTGCCTTCATGAATATTTCAGTGCATATACCTTTTTCTGTATTTAGGAATATTTTCTTTGGAAGAATGTCCCTAAAGTGGAACTGCTAGGTCTCAGAGGGACTCACTTAAGGCTGGTTCATTCATTCTTGCAGCTCCCAGCACAAGTGGAATATAGCTTCAATCTGAGATCGGTACCAGGCCCATTTCATTCTCTCATCCCTCCAATTCTGGCCTGAAATATTTCATTCTCTTGGAATCTATAGTTGTAGATATGAACCTGGCCTTTCTGCTTCTTGGGTTCCATAGGCCTTTTCTTGCTGCCTGCTTGATGTTGCGCAGCTTAATGACTGCTAGGAGGCTTCCCAAGCTCTGACACTTCCAGGCTGTGAGACTGGAACAAGCTTGGCAATTCAAGACCGGCATTATGGCAGTGAGTTATGAGGGCAGAGGAAGGAGGCCAGAGCGTGTTGAGAGAGAATTTGGGTTTCACGCAGTGTGTCACGGGAAGCCTTGGATGCTACTGGGTTTGTTTTAAAAAGATGACCGCACTGAACTCAGGTAAACGGGCAAGGGTGGAAGCGAGGAGGCAGGAGCACCGGCCGCAGAGGTCTGGGAGCTTCTAGGATGGGAAGTGGCCCAGGCAGCCTACGCGGGGCAGGCCGTCAGTGAGTGGCGGAGCGCCTGCAGTTACAGGGACAGGGAAGGGTGGCCGACGGGATGGGCAAGGGCAGAGGGAGGTGGAGTGGACGTTCGTGGTCCTGCCTCTCCACGCTGCTGTTTGGAGATGATTCCGGGAGGGTGGGAGGGCGCTGGCGACGGCATTTCAGTGGTTGGACAGGAAGGAAGGAAGGACGTCCCATCTCGGCGCTCCAGGGTTGAGCAAATGTCAGTCCCAGGACGGTGGCTCCGGGTGGGGGCGGGGGCGACGGTCCGCAGCCGTCTCCCACCAGCTCCCTGTTCAGTTCTTTGATGAGAACGATTACGTTTTCTCAGTCTTACTTAAAGCGCTGAGTAAACTCACCTGCAAGACCAGCAAGCCCTGCGCTTCTCTTTCTGCGCGGTTCCCCGCAGCACATGGCGTGTCCACCCGGGACCCACCTGCGGCCACCTGAAGACTGGGAGGACTGGCTCCGCCCCCGCGCTTCGTCCCCGCCCACTCATGGGCGGAGCCTCCACAGGGCGCCTCGGCCCCGGGCTGTCACTCGGGACTCCGCCCCTTCATGGACGGAGCCTCCGCTCGGCTCTCTGAGCGCATGCGCAGCCGGTCCCACCCGCGGCTCCGACACGCCGGAGCCCACGTCCTTCCGGGAGCGCGCGCGCCGGTGCGGGTGCGTGCGTGAGCGTGCTCGTCTCCGCTGCCGCTGCCGCTGCCGCTGCCGGTGCCGCACCCGCGCCCTCTGCCGCCGCCGCCGCCGCCGCCCGGGGTCTCCAGGCTGAGGAGTGCGTCGGCCGCTGCCCAGCAGCGCCGCGAATCGGGGAGCGGAGCCGCGGAGCCGGCGGGAGGGCGGGCGGGCGGGCGGACGGGCAGGTGAGCTCGCTGCGGGTCGGGCGGGCGGATCGGCCCACGTCAGGCCCGGGCAGGCGGGCGGGCGGGCGCGGGTGGGGGGCGGGGGCGGCACTCCAGAGCCGGAAATGGCGGCGACCCCCGGGCCGGGGCTGCGCGGGCGCTCGGGGCCGGAGCTGCTGCGACGCCGCGGCCTGGGCCGGGGCGGGGGCGCGGGAAGGTCGGCGCCGGGGCCTGCGGGAGCCGGGCCGGGCCGGGCCGGGGGTCTGAGCACCGTGGTGGGGGCTGGGGCGGCGCTCTCCGCGGGTCTCTTCGGGCCCGGACGCCCCCTCCGCTCCCCCAGGTCCCCGCGGCCGCCCCCAACCCCCCGGGGTCTCCTCTCCTGCGGGGGGACTGGAGAAGCTGGGCCATCGCTGGTCTTAGGGAGGCAGATAATTTAGTCCCTGGGTCGTTGTGTTTATAGCTCGGGGAATTGAAAATTGTTCTGTAACGCATCGTAAATTAATCTTTCCGACGTTGTAAATTCCAAAAAGCATTTGGTTTGTTAGAAAAAACCTGTTTTCTCCGCTTTATAAAAACATTTGAAGCCATGCTTTATATTGAACTCTTAAGGAGAGTATTAGGAACTCGTCCGTTCAGGTTCTAACTTGTTGGTGTTAAGTGTCTGGATTAAAGACTCTCTTTTTCGTGTGCCGAAGCCATGATTTCTCAAATTCATTCAGTTGTGTCATACAGGAAAAGGAAGCAAAAATTTCAGCTTTATTTTTGTTTTCCGGCTTAGGCTTGGTTGGGAAGATTTGATGGTGGTTAGACACGTCTGCCCTTATTTGCCTGTTTAGAAAAACCTATTCTAATGACAAAAACAGTTACATTGCTCCCACTATTGTCATGGTTACCTGAAGGCAAAAGTTTACTCAAAGCTTCTGAGATTTTATGTTCGTTTATTTGCTTCTCTTTTTAAAAAAATGTCAGCTGAGTTTCAGGAATGAGTAGTCTGTCAAACAAGAGATGAAATTAGAAGCCTGGATCTAAGGGCTTTGGGGAAGTTTCGGTTGAGTTCCCCTTTCACTTGTGTCGGTGCTGTAGGACTCGGGGTGGCTCCAGCTGGCGTCTGGCCCAGCAGAGAGCTGTAGGGGCCCGCTCTGGTTGCTGGCTGTGTGGACTCTGAGGGACACCCCTGGCGAGGGTGTTAATGAGCCTGCAGCGTCTGAGTCCACCCACCCTCAGACTGGCCCCTGACTCACTCTGCACCTGCCATATCAGCCTCCTTGCTAGTTCTGAACAGAGCCACATGCTCTGTCCTTGGATCTTCCTGGAATGCCTGGTTCCTTAACCCCCTAGCCTGGCGACTGCCTGCCTGCCTTGCCACCCAGTTCCCTTCCTCGCTTAATTTTCCCACAGCGCTGAATCCTCCTAGTGTCCTGCTTAATGCATTTATCATACTTAATATTTTACTGTGAGTTAGTAAGGTCCGTGGAGAGAATGTTTTGTGAAAAAAACAGTTGCTGGCACATGATCGGGGCCCAGTAAATATTTGTTCAGTGAATGAACGTGAGGAGCTTAGCAGCAGCTGTGCGTGGTGCTGGCCTTGTCACCCGGAAGTCCTTGTCGGTGAGGACTGAGCATGTAGAGGTAAGGGTTCCTGGAGTGTTGGCCCTCAGGACAGAGAGCCACCATCTCTCACCTGCCCAATGAGGAAAGACAGCCAGGTAAGGGGTGGCTTGGAAGGGTGCATGGGACCCTTGTAAATCTTTTCGCAACTTTGAATCTATAATTATTTTGAAGTTAAAACGTTTCTAAAAAGTCAGATCTGTTGGGGGCACAGTGGCTCATGCCTGTAATCTCAGCACTTTAGGAGGCTGAGGCGGACGGATCACTTGGAGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACA
|
GCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAGGTGATCCGCCCACCCCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGGCGTACCTTCCTGTCTTATTTTCTCCAAGCAGGCTGGAATGTTCATGGATAGATATATGTGTGATAATATACTTTTTACATATCATGCATCGTGCTCATTTTAGTTTCAGGAGTTCTTTGCTCCTGTGTAGCCTTTCTACACATTATCTTTCTTTTTTTCTTCTTTTTAAATAAGAGATGGGGTCTTGCTCTGTCACCCAGGCAGGAATGCAGTGGCACAATCATGGCTCACTACAGCCTTGACTTCCCACCCGATCCAGCCTCCTGAGTAGCTGGGACTACAGGGGCATGCATGCCACTGTGGCCGGGCCAATTAAAAAAATTTTTTTTTATAGAGATGGTGGTCTCACTATGTTGTCCAGGCAGGTCTCAAACTCCTGGGCTCCAGTGATCTTCCTGCCTTGGTCTACCAAAGTGCTGAGATTCCAGGCGTGAGCCATGGGTCCCGTTGTATACATTTCAGTAACTATATTATTCCATTTGAGTGCTCACTTGTGCAGTTGGGCAGGTTTCCATTCTCGCTATTAAAAATAGTGCCTTCATGAATATTTCAGTGCATATACCTTTTTCTGTATTTAGGAATATTTTCTTTGGAAGAATGTCCCTAAAGTGGAACTGCTAGGTCTCAGAGGGACTCACTTAAGGCTGGTTCATTCATTCTTGCAGCTCCCAGCACAAGTGGAATATAGCTTCAATCTGAGATCGGTACCAGGCCCATTTCATTCTCTCATCCCTCCAATTCTGGCCTGAAATATTTCATTCTCTTGGAATCTATAGTTGTAGATATGAACCTGGCCTTTCTGCTTCTTGGGTTCCATAGGCCTTTTCTTGCTGCCTGCTTGATGTTGCGCAGCTTAATGACTGCTAGGAGGCTTCCCAAGCTCTGACACTTCCAGGCTGTGAGACTGGAACAAGCTTGGCAATTCAAGACCGGCATTATGGCAGTGAGTTATGAGGGCAGAGGAAGGAGGCCAGAGCGTGTTGAGAGAGAATTTGGGTTTCACGCAGTGTGTCACGGGAAGCCTTGGATGCTACTGGGTTTGTTTTAAAAAGATGACCGCACTGAACTCAGGTAAACGGGCAAGGGTGGAAGCGAGGAGGCAGGAGCACCGGCCGCAGAGGTCTGGGAGCTTCTAGGATGGGAAGTGGCCCAGGCAGCCTACGCGGGGCAGGCCGTCAGTGAGTGGCGGAGCGCCTGCAGTTACAGGGACAGGGAAGGGTGGCCGACGGGATGGGCAAGGGCAGAGGGAGGTGGAGTGGACGTTCGTGGTCCTGCCTCTCCACGCTGCTGTTTGGAGATGATTCCGGGAGGGTGGGAGGGCGCTGGCGACGGCATTTCAGTGGTTGGACAGGAAGGAAGGAAGGACGTCCCATCTCGGCGCTCCAGGGTTGAGCAAATGTCAGTCCCAGGACGGTGGCTCCGGGTGGGGGCGGGGGCGACGGTCCGCAGCCGTCTCCCACCAGCTCCCTGTTCAGTTCTTTGATGAGAACGATTACGTTTTCTCAGTCTTACTTAAAGCGCTGAGTAAACTCACCTGCAAGACCAGCAAGCCCTGCGCTTCTCTTTCTGCGCGGTTCCCCGCAGCACATGGCGTGTCCACCCGGGACCCACCTGCGGCCACCTGAAGACTGGGAGGACTGGCTCCGCCCCCGCGCTTCGTCCCCGCCCACTCATGGGCGGAGCCTCCACAGGGCGCCTCGGCCCCGGGCTGTCACTCGGGACTCCGCCCCTTCATGGACGGAGCCTCCGCTCGGCTCTCTGAGCGCATGCGCAGCCGGTCCCACCCGCGGCTCCGACACGCCGGAGCCCACGTCCTTCCGGGAGCGCGCGCGCCGGTGCGGGTGCGTGCGTGAGCGTGCTCGTCTCCGCTGCCGCTGCCGCTGCCGCTGCCGGTGCCGCACCCGCGCCCTCTGCCGCCGCCGCCGCCGCCGCCGCCCGGGGTCTCCAGGCTGAGGAGTGCGTCGGCCGCTGCCCAGCAGCGCCGCGAATCGGGGAGCGGAGCCGCGGAGCCGGCGGGAGGGCGGGCGGGCGGGCGGACGGGCAGGTGAGCTCGCTGCGGGTCGGGCGGGCGGATCGGCCCACGTCAGGCCCGGGCAGGCGGGCGGGCGGGCGCGGGTGGGGGGCGGGGGCGGCACTCCAGAGCCGGAAATGGCGGCGACCCCCGGGCCGGGGCTGCGCGGGCGCTCGGGGCCGGAGCTGCTGCGACGCCGCGGCCTGGGCCGGGGCGGGGGCGCGGGAAGGTCGGCGCCGGGGCCTGCGGGAGCCGGGCCGGGCCGGGCCGGGGGTCTGAGCACCGTGGTGGGGGCTGGGGCGGCGCTCTCCGCGGGTCTCTTCGGGCCCGGACGCCCCCTCCGCTCCCCCAGGTCCCCGCGGCCGCCCCCAACCCCCCGGGGTCTCCTCTCCTGCGGGGGGACTGGAGAAGCTGGGCCATCGCTGGTCTTAGGGAGGCAGATAATTTAGTCCCTGGGTCGTTGTGTTTATAGCTCGGGGAATTGAAAATTGTTCTGTAACGCATCGTAAATTAATCTTTCCGACGTTGTAAATTCCAAAAAGCATTTGGTTTGTTAGAAAAAACCTGTTTTCTCCGCTTTATAAAAACATTTGAAGCCATGCTTTATATTGAACTCTTAAGGAGAGTATTAGGAACTCGTCCGTTCAGGTTCTAACTTGTTGGTGTTAAGTGTCTGGATTAAAGACTCTCTTTTTCGTGTGCCGAAGCCATGATTTCTCAAATTCATTCAGTTGTGTCATACAGGAAAAGGAAGCAAAAATTTCAGCTTTATTTTTGTTTTCCGGCTTAGGCTTGGTTGGGAAGATTTGATGGTGGTTAGACACGTCTGCCCTTATTTGCCTGTTTAGAAAAACCTATTCTAATGACAAAAACAGTTACATTGCTCCCACTATTGTCATGGTTACCTGAAGGCAAAAGTTTACTCAAAGCTTCTGAGATTTTATGTTCGTTTATTTGCTTCTCTTTTTAAAAAAATGTCAGCTGAGTTTCAGGAATGAGTAGTCTGTCAAACAAGAGATGAAATTAGAAGCCTGGATCTAAGGGCTTTGGGGAAGTTTCGGTTGAGTTCCCCTTTCACTTGTGTCGGTGCTGTAGGACTCGGGGTGGCTCCAGCTGGCGTCTGGCCCAGCAGAGAGCTGTAGGGGCCCGCTCTGGTTGCTGGCTGTGTGGACTCTGAGGGACACCCCTGGCGAGGGTGTTAATGAGCCTGCAGCGTCTGAGTCCACCCACCCTCAGACTGGCCCCTGACTCACTCTGCACCTGCCATATCAGCCTCCTTGCTAGTTCTGAACAGAGCCACATGCTCTGTCCTTGGATCTTCCTGGAATGCCTGGTTCCTTAACCCCCTAGCCTGGCGACTGCCTGCCTGCCTTGCCACCCAGTTCCCTTCCTCGCTTAATTTTCCCACAGCGCTGAATCCTCCTAGTGTCCTGCTTAATGCATTTATCATACTTAATATTTTACTGTGAGTTAGTAAGGTCCGTGGAGAGAATGTTTTGTGAAAAAAACAGTTGCTGGCACATGATCGGGGCCCAGTAAATATTTGTTCAGTGAATGAACGTGAGGAGCTTAGCAGCAGCTGTGCGTGGTGCTGGCCTTGTCACCCGGAAGTCCTTGTCGGTGAGGACTGAGCATGTAGAGGTAAGGGTTCCTGGAGTGTTGGCCCTCAGGACAGAGAGCCACCATCTCTCACCTGCCCAATGAGGAAAGACAGCCAGGTAAGGGGTGGCTTGGAAGGGTGCATGGGACCCTTGTAAATCTTTTCGCAACTTTGAATCTATAATTATTTTGAAGTTAAAACGTTTCTAAAAAGTCAGATCTGTTGGGGGCACAGTGGCTCATGCCTGTAATCTCAGCACTTTAGGAGGCTGAGGCGGACGGATCACTTGGAGTCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAAT
|
benign
| 317,117 |
The mutation impacting DNAJC5 (DnaJ heat shock protein family (Hsp40) member C5) on chromosome 20 at position 63930870: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Ceroid_lipofuscinosis,_neuronal,_4_(Kufs_type)', 'Neuronal_ceroid_lipofuscinosis']
|
CTGATTGAGCTTGAAGAACTGCACTCTTGGGTACAGTTTCATTGAGTAACCTGTAAGAGACACCATCACTAATCCAGACAATTCAGATAGTCCTCCTCTCGTGTGCTAGCATCGTGTAGTTCATAAAACACTTCTTAAAGTGCCATCATTACGCCCCGCCGTGCTTACCGTTCACTTGGCACTTGTGCAGTTAGCGGCTGGGACACCAGGGCTGGCCTTGGTGCCGCTGAACTTAGATGTGCCGTGGCACTCACAGCCCTTGGGGCTCCCTCCTCTGAGGCTGGGTCAGGGTGAGGAGGTTTACCTGAAACAACCGCGGAGCTTGCTTTTGTCCCTGGCCCCTGCAGCCCTGGAGAGTCGGACAGTGAGGTGGCCTGGGTGGACCTGCCTTCCACTGCACCCGGCAGTGCGTGCGGGTGGGATGGACGCGGCGGCGGGTGCGGGTGGAACAAAGTCCAGGGTAGAGCCAGGACATGGTTTTGGTTTGCAGGAAGCTTGCCTTGAAATATCACCCCGACAAGAACCCCGACAACCCGGAGGCCGCGGACAAGTTTAAGGAGATCAACAACGCGCACGCCATCCTCACGGACGCCACAAAAAGGAACATCTACGACAAGTACGGCTCGCTGGGTCTCTACGTGGCCGAGCAGTTTGGGGAAGAGAACGTGAACACCTACTTCGTGCTGTCCAGCTGGTGGGCCAAGGTGAGGGCGAGCTGCCTGCCGTGCGGGCACCCGAGTCACTCCTGCCGTGCGGGCACCCGAGTCTCTCCTGCCGTGCGGGCACCCGAGTCACTCCTGCCGTGCGGGCACCCGAGTCTCTCCTGCCGTGCGGGCACCCGAGTCTCTCCTGCCGTGCGGGCACCCGAGTCACTCCTGCCGTGCGGGCGCCCGAGTCACTCCTGCCGTGCGGGCACCCGAGTCTCTCCTGCCATGTGGGCACCCGGGTCACTCCACGCCTGCAGGGTTCCCAGCATTGCAGAGCCCATGCGTTGATGCCAGCAACTCTACACTCCTGAGAAAAGGCTTCTGGGCATATGGAGCCTTTCTCCTCACCTGTGTGATGGGCGAAGCTCTGTCACTGGCTTGGTGTCCTGCCTGGAACAAGCCATAGCGTACAGATTGTCCCAGGGAAGAGCCGTGCGGAGCCGCCAGGGTTTCTTCTGTAAATGGCTCCCAGTCCTTCGTGAGACAGGAGGAAATAAGCCTCGATGTTACATCCGCATTTCTTCGTTTCCTCGTTTTGTTCCAAATGTCATATATGAGGCCAGAGGGTTGGAATCACTGCATGGCATTTGTGAGAAGCCTGTATTTGGCTTTGACTGGTCGGCCTCCTCACTAGAATCCTTATAAAGTACTTTTTATTTAGTTAATGTTAGACAGAGTCTCGCTCTGTTGCCCAGACTGGAGTGCTGTGGTGAGATCCTGGCTCACTTTAACTTTGAATTCCTGGGTTCAAGTGATCCTCCCACTTCAGCTCCAGAACTGCAGGAGTTGAGGCGTGAACCACTGTGCCCAGCCTGGAGGCTGCTTTGTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTTCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCTGCCTCCCGAGTGGCTGGGACTACAGGTGCCCGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCAGCCTCGGCCTCCTGGAGTGCTGGGATGACAGGCATGGGCCACCACGCCCGTCTTGGAGGCTGCTTTTCTTTAAGCTGCGGGTTTCTTTCTGTCTCTCCTCCTCCCTTCTTCAGTTCTTTCCTTCTGCTTCCTGTCTGGAAGGCAGTATCCCCACCTGGAACGCACCCCCTGCCTTCTGCTGAGGGCATTTGGGAGTCCTGCGCCTCCCTCTCCAGGGGCCTCGGAGGCCATGCAACACCACCTTCTTCTCCCCCCAGGCCCTGTTTGTCTTCTGCGGCCTCCTCACGTGCTGCTACTGCTGCTGCTGTCTGTGCTGCTGCTTCAACTGCTGCTGCGGGAAGTGTAAGCCCAAGGCGCCTGAAGGCGAGGAGACGGAGTTCTACGTGTCCCCCGAGGATCTGGAGGCACAGCTGCAGTCTGACGAGAGGGGTGAGTGCCCGCCCCAGGGCCCGTGTGTGTGTGTGGGGCAGAGCCAGAATGGGCCCTGAATGGTGTCAACCTGTCTTGTCAAACAGGAGGGCACTGACACTGTGCCGCGAGTGTTTGTGGTGGCAGCTGGGACTGTTGAGGTGTGAACGTGGACCCTGAGGTAAAGCAGGCGCATAGAGCTGTCCCCGCCGTGACCTGCGGTAGCCGTAGATCCCAGGGACTGCGAGGCGGGGCAGGGCGGCAGGCAGTTGGGGCGGGGCTGAGGGCCGAGGGCTGGCGGTGACCCAAGGCGACGGAGGAAAGCCGTGTGGGGTGGAGGTCAGCGAGTAGCCTCTCCCGGTGGAGAGTTTGTCCAGGTGCCCGAAAGTCGCTCCACAGGACCAGCGTTGGGTGCGCGCCAGGCTGTGGCCCTCGTGCAGTGCCCTGTGTGCTTGCTTTTCAGAGGCCACAGACACGCCGATCGTCATACAGCCGGCATCCGCCACCGAGACCACCCAGCTCACAGCCGACTCCCACCCCAGCTACCACACTGACGGGTTCAACTAAATCCAGGAGGAGCTGTGGTCAGAGGAGGAGCCGGCGCCTGGCCACGCCAACCTTAGAATCATGAACTGTAGTCACAGAGATGGGAAGGCAGCCTCCTGCCTGCCCTGGCCTTGCTGGGGCCCCTCCTGCCTCCACGCCCACCCAGCGTCGACCCTTGACCCACGAAGTGCGTAGCATGCAGTATTTAAAGCAGTGTAGCTACGGTCTTCTGTTTTTTTCCCTTTTTTAATAGCATGTATGGGGTTCTGTTCCATGTCTGTGTTGTGGACATTCCGCGGCATGACCGCGTGAACTGCACGGTGGAGCTGCCTCAGGGCTGTCGGTCAGGTTGGTCCAGTGAGGGGTGACTGCAGCCGGTCAGGTGGGCGAGGAGAAGGGGGGCTGCCCCTTTCCTACCTGTGCTTGAGGGGCCGGAGGCAGGTGCTGCCTGGCAGAGCTGTGTTACCGTCTTGGCCTCGGGGTCTGGTCCACACTCTGTGCTCCCAGCCTTGAGGCTGCAGTAGGACTCTGATCTCACCTGCCAGAAGAGAGGCGGGGCCGCGTCCTCCTGGCGTCACCGGCGTCACTGTCATTCCTTGGTGTCTGTGCTGGGCATGGTTGGCTTGGGGGTCTGTGGTTTCCTGGGCCTTGTGGCAGGGTTTCTCCCGTGGGAGAATTTGGTGTGGAAAGCATAGGAGGCCCCTTCCGAGGTTGACACCGTGTCCTCCGCGGTGTTTCTCGCCTGGTCGTCTCGTCGTGTGGACGCTGCCGTTCTGGTTCTCGGAGGTGTGTCCTTCGCCGTGTTGGGGTTATTTGTCTGTGTTCCTGCACTTTTCCCGGGCTCTGAGCTGGATTGATGGGGCCAGTCTCCCCCCTCCCATCTTGAGGTCGTTCTCCACATTCCTTCCAGCACACCTGTCCTTTCCATAGCCCTTTTTGGACCTTTAGAACCACAGATGATAGGACCAGCCCAATGAGCCACAGTCAGAGAGTAGATTGTGCATGTGTGAGCACCCAGCTACTGGGGACGGGGGCTCTCCCACGACCCCTCCTCCTGTGTTTGCCAGAGCTCCCATCTGCCCCACTCGCCTTTGCCCCGTCATCGATGATTCAGGCAGAGCCAGATTCGTTAGGTCCCTGGAGGAAGGACTGACTGGACCAGAGGGACCCTCTGGCTCAGGAGGGTTGGGTCCCTGGGAGGCCGGCAGCCAGGCCACAGAATCCACACGTGGACCATTGTGGGTCCCTGGGAGGCCGGCAGCCAGGCCACGGAATCCACACGTGGACCATTGTGGGTCCCTTGGGAGGCCAGCAGCCAGACTACGGAATCCACATGTGGACCATGGGAAGTCAGTCTCTTGCGTGTCCTA
|
CTGATTGAGCTTGAAGAACTGCACTCTTGGGTACAGTTTCATTGAGTAACCTGTAAGAGACACCATCACTAATCCAGACAATTCAGATAGTCCTCCTCTCGTGTGCTAGCATCGTGTAGTTCATAAAACACTTCTTAAAGTGCCATCATTACGCCCCGCCGTGCTTACCGTTCACTTGGCACTTGTGCAGTTAGCGGCTGGGACACCAGGGCTGGCCTTGGTGCCGCTGAACTTAGATGTGCCGTGGCACTCACAGCCCTTGGGGCTCCCTCCTCTGAGGCTGGGTCAGGGTGAGGAGGTTTACCTGAAACAACCGCGGAGCTTGCTTTTGTCCCTGGCCCCTGCAGCCCTGGAGAGTCGGACAGTGAGGTGGCCTGGGTGGACCTGCCTTCCACTGCACCCGGCAGTGCGTGCGGGTGGGATGGACGCGGCGGCGGGTGCGGGTGGAACAAAGTCCAGGGTAGAGCCAGGACATGGTTTTGGTTTGCAGGAAGCTTGCCTTGAAATATCACCCCGACAAGAACCCCGACAACCCGGAGGCCGCGGACAAGTTTAAGGAGATCAACAACGCGCACGCCATCCTCACGGACGCCACAAAAAGGAACATCTACGACAAGTACGGCTCGCTGGGTCTCTACGTGGCCGAGCAGTTTGGGGAAGAGAACGTGAACACCTACTTCGTGCTGTCCAGCTGGTGGGCCAAGGTGAGGGCGAGCTGCCTGCCGTGCGGGCACCCGAGTCACTCCTGCCGTGCGGGCACCCGAGTCTCTCCTGCCGTGCGGGCACCCGAGTCACTCCTGCCGTGCGGGCACCCGAGTCTCTCCTGCCGTGCGGGCACCCGAGTCTCTCCTGCCGTGCGGGCACCCGAGTCACTCCTGCCGTGCGGGCGCCCGAGTCACTCCTGCCGTGCGGGCACCCGAGTCTCTCCTGCCATGTGGGCACCCGGGTCACTCCACGCCTGCAGGGTTCCCAGCATTGCAGAGCCCATGCGTTGATGCCAGCAACTCTACACTCCTGAGAAAAGGCTTCTGGGCATATGGAGCCTTTCTCCTCACCTGTGTGATGGGCGAAGCTCTGTCACTGGCTTGGTGTCCTGCCTGGAACAAGCCATAGCGTACAGATTGTCCCAGGGAAGAGCCGTGCGGAGCCGCCAGGGTTTCTTCTGTAAATGGCTCCCAGTCCTTCGTGAGACAGGAGGAAATAAGCCTCGATGTTACATCCGCATTTCTTCGTTTCCTCGTTTTGTTCCAAATGTCATATATGAGGCCAGAGGGTTGGAATCACTGCATGGCATTTGTGAGAAGCCTGTATTTGGCTTTGACTGGTCGGCCTCCTCACTAGAATCCTTATAAAGTACTTTTTATTTAGTTAATGTTAGACAGAGTCTCGCTCTGTTGCCCAGACTGGAGTGCTGTGGTGAGATCCTGGCTCACTTTAACTTTGAATTCCTGGGTTCAAGTGATCCTCCCACTTCAGCTCCAGAACTGCAGGAGTTGAGGCGTGAACCACTGTGCCCAGCCTGGAGGCTGCTTTGTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTTCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCTGCCTCCCGAGTGGCTGGGACTACAGGTGCCCGCCACCACGTCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCAGCCTCGGCCTCCTGGAGTGCTGGGATGACAGGCATGGGCCACCACGCCCGTCTTGGAGGCTGCTTTTCTTTAAGCTGCGGGTTTCTTTCTGTCTCTCCTCCTCCCTTCTTCAGTTCTTTCCTTCTGCTTCCTGTCTGGAAGGCAGTATCCCCACCTGGAACGCACCCCCTGCCTTCTGCTGAGGGCATTTGGGAGTCCTGCGCCTCCCTCTCCAGGGGCCTCGGAGGCCATGCAACACCACCTTCTTCTCCCCCCAGGCCCTGTTTGTCTTCTGCGGCCTCACGTGCTGCTACTGCTGCTGCTGTCTGTGCTGCTGCTTCAACTGCTGCTGCGGGAAGTGTAAGCCCAAGGCGCCTGAAGGCGAGGAGACGGAGTTCTACGTGTCCCCCGAGGATCTGGAGGCACAGCTGCAGTCTGACGAGAGGGGTGAGTGCCCGCCCCAGGGCCCGTGTGTGTGTGTGGGGCAGAGCCAGAATGGGCCCTGAATGGTGTCAACCTGTCTTGTCAAACAGGAGGGCACTGACACTGTGCCGCGAGTGTTTGTGGTGGCAGCTGGGACTGTTGAGGTGTGAACGTGGACCCTGAGGTAAAGCAGGCGCATAGAGCTGTCCCCGCCGTGACCTGCGGTAGCCGTAGATCCCAGGGACTGCGAGGCGGGGCAGGGCGGCAGGCAGTTGGGGCGGGGCTGAGGGCCGAGGGCTGGCGGTGACCCAAGGCGACGGAGGAAAGCCGTGTGGGGTGGAGGTCAGCGAGTAGCCTCTCCCGGTGGAGAGTTTGTCCAGGTGCCCGAAAGTCGCTCCACAGGACCAGCGTTGGGTGCGCGCCAGGCTGTGGCCCTCGTGCAGTGCCCTGTGTGCTTGCTTTTCAGAGGCCACAGACACGCCGATCGTCATACAGCCGGCATCCGCCACCGAGACCACCCAGCTCACAGCCGACTCCCACCCCAGCTACCACACTGACGGGTTCAACTAAATCCAGGAGGAGCTGTGGTCAGAGGAGGAGCCGGCGCCTGGCCACGCCAACCTTAGAATCATGAACTGTAGTCACAGAGATGGGAAGGCAGCCTCCTGCCTGCCCTGGCCTTGCTGGGGCCCCTCCTGCCTCCACGCCCACCCAGCGTCGACCCTTGACCCACGAAGTGCGTAGCATGCAGTATTTAAAGCAGTGTAGCTACGGTCTTCTGTTTTTTTCCCTTTTTTAATAGCATGTATGGGGTTCTGTTCCATGTCTGTGTTGTGGACATTCCGCGGCATGACCGCGTGAACTGCACGGTGGAGCTGCCTCAGGGCTGTCGGTCAGGTTGGTCCAGTGAGGGGTGACTGCAGCCGGTCAGGTGGGCGAGGAGAAGGGGGGCTGCCCCTTTCCTACCTGTGCTTGAGGGGCCGGAGGCAGGTGCTGCCTGGCAGAGCTGTGTTACCGTCTTGGCCTCGGGGTCTGGTCCACACTCTGTGCTCCCAGCCTTGAGGCTGCAGTAGGACTCTGATCTCACCTGCCAGAAGAGAGGCGGGGCCGCGTCCTCCTGGCGTCACCGGCGTCACTGTCATTCCTTGGTGTCTGTGCTGGGCATGGTTGGCTTGGGGGTCTGTGGTTTCCTGGGCCTTGTGGCAGGGTTTCTCCCGTGGGAGAATTTGGTGTGGAAAGCATAGGAGGCCCCTTCCGAGGTTGACACCGTGTCCTCCGCGGTGTTTCTCGCCTGGTCGTCTCGTCGTGTGGACGCTGCCGTTCTGGTTCTCGGAGGTGTGTCCTTCGCCGTGTTGGGGTTATTTGTCTGTGTTCCTGCACTTTTCCCGGGCTCTGAGCTGGATTGATGGGGCCAGTCTCCCCCCTCCCATCTTGAGGTCGTTCTCCACATTCCTTCCAGCACACCTGTCCTTTCCATAGCCCTTTTTGGACCTTTAGAACCACAGATGATAGGACCAGCCCAATGAGCCACAGTCAGAGAGTAGATTGTGCATGTGTGAGCACCCAGCTACTGGGGACGGGGGCTCTCCCACGACCCCTCCTCCTGTGTTTGCCAGAGCTCCCATCTGCCCCACTCGCCTTTGCCCCGTCATCGATGATTCAGGCAGAGCCAGATTCGTTAGGTCCCTGGAGGAAGGACTGACTGGACCAGAGGGACCCTCTGGCTCAGGAGGGTTGGGTCCCTGGGAGGCCGGCAGCCAGGCCACAGAATCCACACGTGGACCATTGTGGGTCCCTGGGAGGCCGGCAGCCAGGCCACGGAATCCACACGTGGACCATTGTGGGTCCCTTGGGAGGCCAGCAGCCAGACTACGGAATCCACATGTGGACCATGGGAAGTCAGTCTCTTGCGTGTCCTANNN
|
pathogenic
| 317,147 |
Regarding the variant found on chromosome 20 at position 64028573 in gene PRPF6 (pre-mRNA processing factor 6): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
benign
|
ACATGTTCATACGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATTGTGAGATCAGGAGTTCGACACCAGCCTGACCAACTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCTTGCACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGCAGGTGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTATCTCAAAAAAAAACAAAACAAAACAAAAACATATATTTATCCCCACCTTTTGTGTACACAAACAGGCTATGAAAAGCTTACAAAAGTACACACAGTACTGCAGGTAACAGTGTTGAGGATGAGTGTACCATGAAGCACGTACCCTGGAGCTGATGCCCTGCGTGACAGTGCATGTCTGCCCCACAGGTGTTCATGAAGTCTGTGAAGCTGGAGTGGGTGCAAGACAACATCAGGGCAGCCCAAGATCTGTGCGAGGAGGCCCTGCGGCACTATGAGGACTTCCCCAAGCTGTGGATGATGAAGGGGCAGATCGAGGAGCAGAAGGAGATGATGGAGAAGGCGCGGGAAGCCTATAACCAGGGGGTACGTCTCTGCCTGCACCCTGGGGCTGCAGCTGACCCGGCATTCACAAAACTGAGCCCCCTGGTGCAGGGTCATTGCCCTTCGCCTCTGAGGAGATGTGGAGGGCTGGGGGTTACAGCTGATGGAGCTGCAGACTCAGGACCCAAACCCTGGTCCCCTCGCTGAGTTCTGTGCTTTTCCTTATATGAAGCTGCACACACTGCTCAGAAGTGCAGAGTGTGGCACACCTGCAGTAAAGGCTGGTACGTACAGACCTGTGTGCACAGGTCCACAGCACCACCGCACACCTGTACACCCACAAATGCAGAGTGTGAGGGGTGTTTTTCCATGGACATGGCAGCCCTGAGGGACTCGGTCACCCACTGCAGATGAGAAGCTGGGCATGGCTGTGTCCCAGTTCTTCATAGACACCACCTGAGCTGCTCTCTTACTTGTTGGTTGCAGTTGAAGAAGTGTCCCCACTCCACACCCCTGTGGCTTTTGCTCTCTCGGCTGGAGGAGAAGATTGGGCAGCTTACTCGAGCACGGGCCATTTTGGAAAAGTCTCGTCTGAAGAACCCAAAGAACCCTGGGCTGTGGTGAGTCCTGGAGGGGGCAGCCTGGCCTCTGGGCACAGCTTCCCCATCAGGTGGGCCGCCGTCACCCAGCTGCTTGTGTGGAGTCACTCGTGCAGTGCTTCCAGGCTCAGGGGCTTGGGGGGCGGTAGGTGCTGGCCATGAAAAATCACGGTCCCTGCCTTAGGAGAGTTCGGCCTAGGTACTGTGACAGGCCTGTAGATGGTTTGATGCAGTTTAATTTGTGTTCTGATGGAGGGCGCCTGGGAGAGGGAGGGGTTAATGATGGCTGGGACGAGGGAAGGATGGACCCCGGAGAGCCAGCTCCACAGAGGAGGTGGCGTGGAGAGCCCTGGAGGTGGACAGGAGCCTGCTAGGTGCAGGCTCTGTTCATGGAGGTGCTGCGTCCAGCTCAGGGTGACGGGGCTGGAGCACTGTGCAGGCACTGCCGCAGACAGGCAGCTTCTGGGTGCCTTGTGCGGCCCTGGCTCTCCCAGTCTGGTCTTGTTTGTTCTGGATGCCTTCACCTGCATCTGGACAGCGTCAGGATCTGAGGTCTTGCCTTGGGGCGGTTGCCAGTGGGGCTGGCAGGGATGTGGGCCCCAGCGCCTTGTTTCTGTGGTGGATGAGCTCTGCTGTGGAGGGAATGGAGTTTTTGCTGCTGTGACTGGGTGGAGAGCCCTTTCAGACAAGGCTTCCCAGAAGCTACCAGAATATGTGCTGTTGGTAGACGGCTGTGGGACCTCCGGGGGCCTGTCTCCTCAGGTTGGAGTCCGTGCGGCTGGAGTACCGTGCGGGGCTGAAGAACATCGCAAATACACTCATGGCCAAGGCGCTGCAGGAGTGCCCCAACTCCGGTAAGGGGGTGCCCCGACTCCGGTAAGGGGGTGCCCTGACTCCGGTAAGGGGGTGCCTTGACTCCGGTAAGGGGGTGCTTCCTGGCTTCCCAGACTCCGCAGGGCTGGCACTTCCTGAGGGAGTGGGGGCTCAGGCTTCAGACGGACTTTATTAAAATGTGTAGTTTGTGTGAATCATTTCAGTCAAAAGTTTCAGCTATACTCGGCCGTTAAGACAACTTAATGAAATTCTTGGCCTCAAAATGGGAGAATTTGATTTCATTTCTGAAGTGTTATCATTTCTTTTTCTTTTAAAATTTAAAAGAAATTGGCCAGGTGTGGTGGCTCATGCCTGTAATCTCAGCACTTTGAGAGACTGAGGCGGGAGGATTGCTTGAGTCCAGGAGTCCATTGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATGAGCTGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGTGGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCACCCTGAATGACAGAGTGAGACTCTGCAGGGTGTCCAGTCTGTGCCCTCAGGGCTGCCATGGTTTTGGGTGGGCCAGAGTGCTCATCCTTTGTGGTTCTCCTTGCACAAGTTCTGCGAGCCGTGTGTGGGAGGCCCCTGTCGTGGTCTGAGGACGTCCCGGGTTAGAATCTGTAGGCTGGGCACCTTTCCGGAACCAGAGGCTGGAGTGCAAATCTTTGTTCTTTGTTTCTGAATTATAGGTATCCTGTGGTCTGAGGCCATCTTCCTCGAGGCAAGGCCCCAGAGGAGGACCAAGAGCGTGGATGCCCTGAAGAAGTGTGAGCATGACCCCCATGTGCTCCTGGCCGTGGCCAAGTGAGTGGGGCCCCCACAGGATTGCTGAACCTCGGGGTCCTAATGGGCTCTTTTTCCAGAGTCTGTCTGCCTCTTCCTGGTCATTGTAAAGATGCCCGGCAGCAGGGTGGGCTTCCCCGATCCTCGGCTGCCGTCGCTCCTGCTGTGGTCTGGGGCAGGCGCCTCTCCTGGCAGACACACCTGAGGGTGCCGTGGTCAGAGACTCACTGGGGACGCATGTGATTCACACTGGTGCGCTGGCCGCCGGGTCACAGACTCACTGGGGACGCGTGTGATTCACACTGGTGCGCTGGCCGCCAGGTCAGAGACTCACCGGGGACGCATGTGATTCACACTGGTGCTCTGGTCGCCGGGTCAGAGACTCACTGGGGACGCATGTGATTCACACTGGTGCGCTGGCCGCCGGGTCAGAGACTCACTGGGGACACATGTGATTCACACTGGTGTGCTGGCCGCCGGGTCAGAGACTCACTGGGGACGCGTGTGATTCACACTGGTGCGCTGGCCGCTGGGTCAGAGACTCACTGGGGACGTGACTCTGGAACCTTGCAGGCAGCAGCGGGTAGCCATGGGGCAGAGCATGCAGACTCTAGGCACATGTGGGCAAAGACCCGCCAGGTGTGGGGCACAGCAGGGAGCTCAGGGCCATCCCCGACCCCCAGGGTCCCTGTTTCCTTCTAGAAAGAGGATGACAGTCTGGGAAGGAGCTGGGCCTGAGTGTGGGTCAGGAGGCTGGGAAGTGACCATGTGGGGTGAAGGGAGTTCTTGGAAGAACCCTGGGTTCCTGAGGCTGCAGCTCAGGACGTGGGCTCACCTGGCAGAGGTGGCGTGTCTGGCCCCAGGAGCTCTCCTGTGTCCGGCTTCCCCTCCACCTGCCCCGCCATGGGTCATGCAGAGACAACAGCCTTCCTAGTGCTGGCTTTTGATTCTCTCCATCCCTTCTCCCCAGCACTGGGTGGCAGTGGTGCTTGGTCTCCAGAGGTCTGGGTGCCGCCCCCACAGGCTTGCCTGTAGGGGCACCTCCTCTCCCCTGCCCGCAGGCCCCCGACAGATGAGAGAGGCTCCCCACAGGGAGGCTTGTGTCTGCCTGGTGCTACCTTGGTCCTGCCCTGTGCGTTCACCTCCCAGA
|
ACATGTTCATACGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATTGTGAGATCAGGAGTTCGACACCAGCCTGACCAACTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCTTGCACCTGTAGTTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGCAGGTGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTATCTCAAAAAAAAACAAAACAAAACAAAAACATATATTTATCCCCACCTTTTGTGTACACAAACAGGCTATGAAAAGCTTACAAAAGTACACACAGTACTGCAGGTAACAGTGTTGAGGATGAGTGTACCATGAAGCACGTACCCTGGAGCTGATGCCCTGCGTGACAGTGCATGTCTGCCCCACAGGTGTTCATGAAGTCTGTGAAGCTGGAGTGGGTGCAAGACAACATCAGGGCAGCCCAAGATCTGTGCGAGGAGGCCCTGCGGCACTATGAGGACTTCCCCAAGCTGTGGATGATGAAGGGGCAGATCGAGGAGCAGAAGGAGATGATGGAGAAGGCGCGGGAAGCCTATAACCAGGGGGTACGTCTCTGCCTGCACCCTGGGGCTGCAGCTGACCCGGCATTCACAAAACTGAGCCCCCTGGTGCAGGGTCATTGCCCTTCGCCTCTGAGGAGATGTGGAGGGCTGGGGGTTACAGCTGATGGAGCTGCAGACTCAGGACCCAAACCCTGGTCCCCTCGCTGAGTTCTGTGCTTTTCCTTATATGAAGCTGCACACACTGCTCAGAAGTGCAGAGTGTGGCACACCTGCAGTAAAGGCTGGTACGTACAGACCTGTGTGCACAGGTCCACAGCACCACCGCACACCTGTACACCCACAAATGCAGAGTGTGAGGGGTGTTTTTCCATGGACATGGCAGCCCTGAGGGACTCGGTCACCCACTGCAGATGAGAAGCTGGGCATGGCTGTGTCCCAGTTCTTCATAGACACCACCTGAGCTGCTCTCTTACTTGTTGGTTGCAGTTGAAGAAGTGTCCCCACTCCACACCCCTGTGGCTTTTGCTCTCTCGGCTGGAGGAGAAGATTGGGCAGCTTACTCGAGCACGGGCCATTTTGGAAAAGTCTCGTCTGAAGAACCCAAAGAACCCTGGGCTGTGGTGAGTCCTGGAGGGGGCAGCCTGGCCTCTGGGCACAGCTTCCCCATCAGGTGGGCCGCCGTCACCCAGCTGCTTGTGTGGAGTCACTCGTGCAGTGCTTCCAGGCTCAGGGGCTTGGGGGGCGGTAGGTGCTGGCCATGAAAAATCACGGTCCCTGCCTTAGGAGAGTTCGGCCTAGGTACTGTGACAGGCCTGTAGATGGTTTGATGCAGTTTAATTTGTGTTCTGATGGAGGGCGCCTGGGAGAGGGAGGGGTTAATGATGGCTGGGACGAGGGAAGGATGGACCCCGGAGAGCCAGCTCCACAGAGGAGGTGGCGTGGAGAGCCCTGGAGGTGGACAGGAGCCTGCTAGGTGCAGGCTCTGTTCATGGAGGTGCTGCGTCCAGCTCAGGGTGACGGGGCTGGAGCACTGTGCAGGCACTGCCGCAGACAGGCAGCTTCTGGGTGCCTTGTGCGGCCCTGGCTCTCCCAGTCTGGTCTTGTTTGTTCTGGATGCCTTCACCTGCATCTGGACAGCGTCAGGATCTGAGGTCTTGCCTTGGGGCGGTTGCCAGTGGGGCTGGCAGGGATGTGGGCCCCAGCGCCTTGTTTCTGTGGTGGATGAGCTCTGCTGTGGAGGGAATGGAGTTTTTGCTGCTGTGACTGGGTGGAGAGCCCTTTCAGACAAGGCTTCCCAGAAGCTACCAGAATATGTGCTGTTGGTAGACGGCTGTGGGACCTCCGGGGGCCTGTCTCCTCAGGTTGGAGTCCGTGCGGCTGGAGTACCGTGCGGGGCTGAAGAACATCGCAAATACACTCATGGCCAAGGCGCTGCAGGAGTGCCCCAACTCCGGTAAGGGGTGCCCCGACTCCGGTAAGGGGGTGCCCTGACTCCGGTAAGGGGGTGCCTTGACTCCGGTAAGGGGGTGCTTCCTGGCTTCCCAGACTCCGCAGGGCTGGCACTTCCTGAGGGAGTGGGGGCTCAGGCTTCAGACGGACTTTATTAAAATGTGTAGTTTGTGTGAATCATTTCAGTCAAAAGTTTCAGCTATACTCGGCCGTTAAGACAACTTAATGAAATTCTTGGCCTCAAAATGGGAGAATTTGATTTCATTTCTGAAGTGTTATCATTTCTTTTTCTTTTAAAATTTAAAAGAAATTGGCCAGGTGTGGTGGCTCATGCCTGTAATCTCAGCACTTTGAGAGACTGAGGCGGGAGGATTGCTTGAGTCCAGGAGTCCATTGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAATACAAAAATGAGCTGGGCATGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGTGGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGCACTCCACCCTGAATGACAGAGTGAGACTCTGCAGGGTGTCCAGTCTGTGCCCTCAGGGCTGCCATGGTTTTGGGTGGGCCAGAGTGCTCATCCTTTGTGGTTCTCCTTGCACAAGTTCTGCGAGCCGTGTGTGGGAGGCCCCTGTCGTGGTCTGAGGACGTCCCGGGTTAGAATCTGTAGGCTGGGCACCTTTCCGGAACCAGAGGCTGGAGTGCAAATCTTTGTTCTTTGTTTCTGAATTATAGGTATCCTGTGGTCTGAGGCCATCTTCCTCGAGGCAAGGCCCCAGAGGAGGACCAAGAGCGTGGATGCCCTGAAGAAGTGTGAGCATGACCCCCATGTGCTCCTGGCCGTGGCCAAGTGAGTGGGGCCCCCACAGGATTGCTGAACCTCGGGGTCCTAATGGGCTCTTTTTCCAGAGTCTGTCTGCCTCTTCCTGGTCATTGTAAAGATGCCCGGCAGCAGGGTGGGCTTCCCCGATCCTCGGCTGCCGTCGCTCCTGCTGTGGTCTGGGGCAGGCGCCTCTCCTGGCAGACACACCTGAGGGTGCCGTGGTCAGAGACTCACTGGGGACGCATGTGATTCACACTGGTGCGCTGGCCGCCGGGTCACAGACTCACTGGGGACGCGTGTGATTCACACTGGTGCGCTGGCCGCCAGGTCAGAGACTCACCGGGGACGCATGTGATTCACACTGGTGCTCTGGTCGCCGGGTCAGAGACTCACTGGGGACGCATGTGATTCACACTGGTGCGCTGGCCGCCGGGTCAGAGACTCACTGGGGACACATGTGATTCACACTGGTGTGCTGGCCGCCGGGTCAGAGACTCACTGGGGACGCGTGTGATTCACACTGGTGCGCTGGCCGCTGGGTCAGAGACTCACTGGGGACGTGACTCTGGAACCTTGCAGGCAGCAGCGGGTAGCCATGGGGCAGAGCATGCAGACTCTAGGCACATGTGGGCAAAGACCCGCCAGGTGTGGGGCACAGCAGGGAGCTCAGGGCCATCCCCGACCCCCAGGGTCCCTGTTTCCTTCTAGAAAGAGGATGACAGTCTGGGAAGGAGCTGGGCCTGAGTGTGGGTCAGGAGGCTGGGAAGTGACCATGTGGGGTGAAGGGAGTTCTTGGAAGAACCCTGGGTTCCTGAGGCTGCAGCTCAGGACGTGGGCTCACCTGGCAGAGGTGGCGTGTCTGGCCCCAGGAGCTCTCCTGTGTCCGGCTTCCCCTCCACCTGCCCCGCCATGGGTCATGCAGAGACAACAGCCTTCCTAGTGCTGGCTTTTGATTCTCTCCATCCCTTCTCCCCAGCACTGGGTGGCAGTGGTGCTTGGTCTCCAGAGGTCTGGGTGCCGCCCCCACAGGCTTGCCTGTAGGGGCACCTCCTCTCCCCTGCCCGCAGGCCCCCGACAGATGAGAGAGGCTCCCCACAGGGAGGCTTGTGTCTGCCTGGTGCTACCTTGGTCCTGCCCTGTGCGTTCACCTCCCAGAN
|
benign
| 317,214 |
Clinical classification of chromosome 21, position 25881780, gene APP (amyloid beta precursor protein): benign or pathogenic? Disease(s) if pathogenic?
|
benign
|
CACTCCCTACAGGGCAAGGCTGTCTAACATGTGTTTCAAAGCTCCAGTGAAACTCTCCCTCACCAGGAGACTGCTCAGGAGACAACAGTCAATTTACAACCCAAATTATGCCCGCTACAAAACTCTCCCCCACCTGGAGACTTTCGGACACCTTTGTAATCGAATTCTGTCCACAAAGACGTCAACTCAACCGCCTGGTAGATAAGGCACCACAACGAGTACAGGGACCTCCACCTGCTCACTGCCTTCCCTGCATGTCATTCGTGCCAGGCCCTCCTTTTATTTATTTATTTATTTATTTATTTATTTATTGAGACGGAGTCTCGTCTGTCTCCCAGGCTGGAGTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTCAAAAAACATAAATAAAATAAATAAATATCCTACACTGGTCAGGACAACTCCCTTCAACAAGGAATTATTCCCTGCAAAATGTTAGTAGCGTTCAGGATGAGAAACCATGCTTTACAGATAATCAGCTGTCTTAATTTTTATTTCCCTGGAACTTTTCCCTTTGTCTCTCATTTGGGACAAACTTGAGGGCCAAAATATGGCAGCAAAATGTTTTAGATCAAGTAAAGACTGTAAATTAGGTCTATGAAATATTTTCCCAGCACTGGGAGACACATGTTGGCCCCAACTTCCTACTCAGACTTGCAATTAAGACACAACAGGTGTGGGTACCCAACATGCGAAGACTTCTCACTGGTCTGTACGTCAGTAAATGGTCAAGATTGTTACTATGGAATCATTCACACCAGCACAATGGTGCTCCTCCAAGAATGTATTTATTTACATGAAAACACCATTTTATACAAATTGAAGACACATCTTAAAAGAAGGGTTTGTCCAGGCATGCCTTCCTCATCCCCTTATATTGCCACTTCCATTTTCATCTTCTTTTGTATCATAAATGAAACTTCAGACTGGTTAAAGAAAATTGAATCTGCCTCTTCTCCCCACCCAAAATTACTTCGATTATTTAATGTCTGTAGTCATCCTTCAAAGAAAAGTCTTGCCCGGGGTTATTTTATTTAATTTATTTATGTAATACAGTGTAGAAAGCGATCATGTCATAAGCAATGATTCTGTACAATCATCCTGCAGAAAATTGTTTTGGAGAATTCTTGGTAATTGAAGACCAGCAGAGCACCCCTCCCCACCCGCCCCGTAAAAGTGCTTACAATGAACAGGGATTCTTTTCTTTATCAAAGACCCAAAGATACGTGGACAAAAAAAGAAAAGCTTGAAGTCTCAATGCCTAATGTGTGCACATAAAACAGGCACGAAGAAACAAACGTGTGTATCCTCTTAATTCCTATATCACAAATATAGCAGAAGCAGCAATCTGTACAGTAAAATGCAGTCATGGAAAAAAAATCTCTCTAAAGCATCTGAAATACTTAAAAATGTTTAACTTTAAAATGCATAGTGATCAGGAAAGGAATACTTAGGCAAGAGAAGCAGCTGAACTCCCACGTTCACATGAAGCATCCCCCATCGATTCTTAAAGCATATGTAAAGTAGGACTTAATTGGGTCACAAACCACAAGAATAATATACAACTGGCTAAGGGGCTATGTGATAAATAATCAGGAGAGAATCTATTCATGCACTAGTTTGATACAGCTAAATTCTTTACAGTACACAAAACCCATTAATAATGTAGTATAGAGACCAAAATGTAAAGAGAGATAGAATACATTACTGATGTGTGGATTAATTCAAGTTCAGGCATCTACTTGTGTTACAGCACAGCTGTCAAAAGGCGATAATGAGTAAATCATAAAACGGGTTTGTTTCTTCCCACATTATTCTATAAATGGACACCGATGGGTAGTGAAGCAATGGTTTTGCTGTCCAACTTCAGAGGCTGCTGTGGCGGGGGTCTAGTTCTGCATCTGCTCAAAGAACTTGTAGGTTGGATTTTCGTAGCCGTTCTGCTGCATCTTGGACAGGTGGCGCTCCTCTGGGGTGACAGCGGCGTCAACCTGAAAAACAAGAGGAGAGCTGAGTAAAAAATAAAAATCAATCTTTTAAGGGTGAACATGGAGAAGCAGTAAAAAGATAAGGAGTACAGTACTCTTCTTTTGCCAAGATTGCAGAACACCCATAATTTTCTCCCCCACTTTGACATCTTGGAGCAGAACGCCTTTGCCCACCAGTTACACAGATGCTGTGCTCCATCTAGCCACCAGGTGGCGGTGGAAACCTTGACGCGCTTGCAACGTGTCCAGTGGTTGTTTCTGGTTCCCCAACTCCACAGTAAGTGGATAAACCCAGTGCAATGGTATTTTTTCCTCCCCTGTTGGGTCCATAAAGGACAAACAGAGTCAACGGAAGCCTGTTTTACGTGGAAGTGTTTTGGTAAAATAGATAAAACCACAAGAGTATCATGGAGGGAGATTCAGCAAAGTATACTGTATCTTGGGTGACACTCAAATCTGTGTAGAAAAATACTCGATTTCCTGGACTGCTGAATTTAGTCTAGCCCATTTCTATCAAATTTTATGTTTGTTAAAATGTTAAGGAGAGGTTTGAGAATCAATTAAAACAATAACATATACCAAAGGGGGCTATTATTTGGCACAAGAAAAAAGGAAGAGCAAGGACGACGCCATTCTAGATGATGTAATTTTTTAAAAACTGAGAATTAAGATACTATAGAAGTATGTTCAGCTCAAAGTTTAAAATCAGACCCTCTCTGTTAATATGTTGCTTTACCTCTAAGGTCAGGCCAGTAACTGAAGACGTTTTTCTCCCCCTGTCACTGTTAGAGCTGTGTGTGGCATTTACTGTCTGCAGGTTGGGCAGGGTACTTACCCCTACAACGTGGGCAGTGGCTGTTCTTGTTTTACTATATTTGTTATACCTCTCCCCGTTCGCAGAAGAGAGGAGGTCCTTAACTCTGCTGAATGAGTATGTTAAAATTCCTCTTTTGTAAAACCATGGTAAGATGAAGAGAATAAATAGAAAGTCATCAGAATGAAGAGGCATGTTTTCCAGAGAAAAGTTTGGATGTACCATAGAGAAGATATTCCTTCAAAGGGATATTTCCTAGAATGGGCTGCTCATTCATCTCTGGGAGAATACTGCAGGCCCATTCCCCCTTGTTGAGTGTTGCCAAGTGACATTCCTCCCTTATGCAGCTTTTCCCCCTACACACCCCATCTGGCATGGATCTGAGCCTACACAGCAATGCCCCTGAAGCCAAGGAAGAAAAAGTACCAGCGAGGATGTAGTGTCAGCAGTAAGACATGAGGTCTCGAGATGGAGCTAGATATGTCATGACTAGACCACACTGGCTGATAACAATTCAGACTAAAAGATCTGTCAATATGGCCGGGTGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGCCTGAGGTGGGTGCGTCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACGCCTGTAATCCCAGCTGCTCCACAGGCGGAGGCAGGAGAATGGCTTGAACTTGGGGGGTGGAGTTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCCATCTCCAAGAAAAAAAAGGCCAGGTGAGGTGGCTCAAAATCCCAGCCCTTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCGGGAGTTTGAGACACGCCTGGCCAACATAGTGAAACCCCATCTTTAACAAAAATACAAAAAAATTTAGCCAGGCACAGTAGCACGTGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGAAGAACTGCTTGAACCCAGGAGGCTGAGGCTGCAGTGAGCCAAGATCGTGCCACTGCACTCCGGCCTGGGCAACAGAGGGAGACTCTGTCTCAAAAAAAGTAAATAAATAAAAATAAATCTGTCAGTATAATCAGGTCCCCTGTGGTCCCTTCGGATAGCCCCACTTCATGAAGTGATTGACTCTTTTCAGTCTGGGAGTGAGGTGGAATGACTACCAGTGGCTAAT
|
CACTCCCTACAGGGCAAGGCTGTCTAACATGTGTTTCAAAGCTCCAGTGAAACTCTCCCTCACCAGGAGACTGCTCAGGAGACAACAGTCAATTTACAACCCAAATTATGCCCGCTACAAAACTCTCCCCCACCTGGAGACTTTCGGACACCTTTGTAATCGAATTCTGTCCACAAAGACGTCAACTCAACCGCCTGGTAGATAAGGCACCACAACGAGTACAGGGACCTCCACCTGCTCACTGCCTTCCCTGCATGTCATTCGTGCCAGGCCCTCCTTTTATTTATTTATTTATTTATTTATTTATTTATTGAGACGGAGTCTCGTCTGTCTCCCAGGCTGGAGTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTCAAAAAACATAAATAAAATAAATAAATATCCTACACTGGTCAGGACAACTCCCTTCAACAAGGAATTATTCCCTGCAAAATGTTAGTAGCGTTCAGGATGAGAAACCATGCTTTACAGATAATCAGCTGTCTTAATTTTTATTTCCCTGGAACTTTTCCCTTTGTCTCTCATTTGGGACAAACTTGAGGGCCAAAATATGGCAGCAAAATGTTTTAGATCAAGTAAAGACTGTAAATTAGGTCTATGAAATATTTTCCCAGCACTGGGAGACACATGTTGGCCCCAACTTCCTACTCAGACTTGCAATTAAGACACAACAGGTGTGGGTACCCAACATGCGAAGACTTCTCACTGGTCTGTACGTCAGTAAATGGTCAAGATTGTTACTATGGAATCATTCACACCAGCACAATGGTGCTCCTCCAAGAATGTATTTATTTACATGAAAACACCATTTTATACAAATTGAAGACACATCTTAAAAGAAGGGTTTGTCCAGGCATGCCTTCCTCATCCCCTTATATTGCCACTTCCATTTTCATCTTCTTTTGTATCATAAATGAAACTTCAGACTGGTTAAAGAAAATTGAATCTGCCTCTTCTCCCCACCCAAAATTACTTCGATTATTTAATGTCTGTAGTCATCCTTCAAAGAAAAGTCTTGCCCGGGGTTATTTTATTTAATTTATTTATGTAATACAGTGTAGAAAGCGATCATGTCATAAGCAATGATTCTGTACAATCATCCTGCAGAAAATTGTTTTGGAGAATTCTTGGTAATTGAAGACCAGCAGAGCACCCCTCCCCACCCGCCCCGTAAAAGTGCTTACAATGAACAGGGATTCTTTTCTTTATCAAAGACCCAAAGATACGTGGACAAAAAAAGAAAAGCTTGAAGTCTCAATGCCTAATGTGTGCACATAAAACAGGCACGAAGAAACAAACGTGTGTATCCTCTTAATTCCTATATCACAAATATAGCAGAAGCAGCAATCTGTACAGTAAAATGCAGTCATGGAAAAAAAATCTCTCTAAAGCATCTGAAATACTTAAAAATGTTTAACTTTAAAATGCATAGTGATCAGGAAAGGAATACTTAGGCAAGAGAAGCAGCTGAACTCCCACGTTCACATGAAGCATCCCCCATCGATTCTTAAAGCATATGTAAAGTAGGACTTAATTGGGTCACAAACCACAAGAATAATATACAACTGGCTAAGGGGCTATGTGATAAATAATCAGGAGAGAATCTATTCATGCACTAGTTTGATACAGCTAAATTCTTTACAGTACACAAAACCCATTAATAATGTAGTATAGAGACCAAAATGTAAAGAGAGATAGAATACATTACTGATGTGTGGATTAATTCAAGTTCAGGCATCTACTTGTGTTACAGCACAGCTGTCAAAAGGCGATAATGAGTAAATCATAAAACGGGTTTGTTTCTTCCCACATTATTCTATAAATGGACACCGATGGGTAGTGAAGCAATGGTTTTGCTGTCCAACTTCAGAGGCTGCTGTGGCGGGGGTCTAGTTCTGCATCTGCTCAAAGAACTTGTAGGTTGGATTTTCGTAGCCGTTCTGCTGCATCTTGGACAGGTGGCGCTCCTCTGGGGTGACAGCGGCGTCAACCTGAAAAACGAGGAGAGCTGAGTAAAAAATAAAAATCAATCTTTTAAGGGTGAACATGGAGAAGCAGTAAAAAGATAAGGAGTACAGTACTCTTCTTTTGCCAAGATTGCAGAACACCCATAATTTTCTCCCCCACTTTGACATCTTGGAGCAGAACGCCTTTGCCCACCAGTTACACAGATGCTGTGCTCCATCTAGCCACCAGGTGGCGGTGGAAACCTTGACGCGCTTGCAACGTGTCCAGTGGTTGTTTCTGGTTCCCCAACTCCACAGTAAGTGGATAAACCCAGTGCAATGGTATTTTTTCCTCCCCTGTTGGGTCCATAAAGGACAAACAGAGTCAACGGAAGCCTGTTTTACGTGGAAGTGTTTTGGTAAAATAGATAAAACCACAAGAGTATCATGGAGGGAGATTCAGCAAAGTATACTGTATCTTGGGTGACACTCAAATCTGTGTAGAAAAATACTCGATTTCCTGGACTGCTGAATTTAGTCTAGCCCATTTCTATCAAATTTTATGTTTGTTAAAATGTTAAGGAGAGGTTTGAGAATCAATTAAAACAATAACATATACCAAAGGGGGCTATTATTTGGCACAAGAAAAAAGGAAGAGCAAGGACGACGCCATTCTAGATGATGTAATTTTTTAAAAACTGAGAATTAAGATACTATAGAAGTATGTTCAGCTCAAAGTTTAAAATCAGACCCTCTCTGTTAATATGTTGCTTTACCTCTAAGGTCAGGCCAGTAACTGAAGACGTTTTTCTCCCCCTGTCACTGTTAGAGCTGTGTGTGGCATTTACTGTCTGCAGGTTGGGCAGGGTACTTACCCCTACAACGTGGGCAGTGGCTGTTCTTGTTTTACTATATTTGTTATACCTCTCCCCGTTCGCAGAAGAGAGGAGGTCCTTAACTCTGCTGAATGAGTATGTTAAAATTCCTCTTTTGTAAAACCATGGTAAGATGAAGAGAATAAATAGAAAGTCATCAGAATGAAGAGGCATGTTTTCCAGAGAAAAGTTTGGATGTACCATAGAGAAGATATTCCTTCAAAGGGATATTTCCTAGAATGGGCTGCTCATTCATCTCTGGGAGAATACTGCAGGCCCATTCCCCCTTGTTGAGTGTTGCCAAGTGACATTCCTCCCTTATGCAGCTTTTCCCCCTACACACCCCATCTGGCATGGATCTGAGCCTACACAGCAATGCCCCTGAAGCCAAGGAAGAAAAAGTACCAGCGAGGATGTAGTGTCAGCAGTAAGACATGAGGTCTCGAGATGGAGCTAGATATGTCATGACTAGACCACACTGGCTGATAACAATTCAGACTAAAAGATCTGTCAATATGGCCGGGTGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGCCTGAGGTGGGTGCGTCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACGCCTGTAATCCCAGCTGCTCCACAGGCGGAGGCAGGAGAATGGCTTGAACTTGGGGGGTGGAGTTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCCATCTCCAAGAAAAAAAAGGCCAGGTGAGGTGGCTCAAAATCCCAGCCCTTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCGGGAGTTTGAGACACGCCTGGCCAACATAGTGAAACCCCATCTTTAACAAAAATACAAAAAAATTTAGCCAGGCACAGTAGCACGTGCCTGTAGTCCCAGCTACTCCAGAGGCTGAGGCAGAAGAACTGCTTGAACCCAGGAGGCTGAGGCTGCAGTGAGCCAAGATCGTGCCACTGCACTCCGGCCTGGGCAACAGAGGGAGACTCTGTCTCAAAAAAAGTAAATAAATAAAAATAAATCTGTCAGTATAATCAGGTCCCCTGTGGTCCCTTCGGATAGCCCCACTTCATGAAGTGATTGACTCTTTTCAGTCTGGGAGTGAGGTGGAATGACTACCAGTGGCTAATNN
|
benign
| 317,324 |
Clinical significance of chromosome 21, position 25891787, gene APP (amyloid beta precursor protein): benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Alzheimer_disease']
|
GCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAAGCTTAGATACTATCACAAAAGGTGCAATGGCCAAACATGACAGTGGGGTCATTGCTTTTATGTGCTCACACTCTGATCTATGGGTCAGTCCGTTCCTTTCCACCCTGCTGCCTGCTGTTCTCTTGGTTTCCTTCCTCACACTGCTCATCCACGTCAGTATGAATGGGGAAATGAGGCTCCACCCCAATTTCCATCAGCAGCTTCTGTTGTAGTCTGCAGAGGTTTTAATTGCTGAGCAAAATGAAATTTCTGGCTTCACCACAAATTTCATTTATTTAAACTCTGCCTGTCCTCTTCTAATCAAGAATGGTTTAGAGCCCATTTCCTTGGGGATAGTGGAATCTTCAACTCCCTAGAAACACCTGGACTTTTCTCTGATGGAAAAAGCAATGGGGGCCAGACGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAACAAAAATTAGCCGGGCATGGTGGCGTGTGCCCATAGTCCCAGCTACTCAGGAAGCTGAGACAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCCAGCCTGGGCAACAGCGCGAGACTGTCTCAAAAAAAAAAAAAAAAAGCAATGGGGAATATGAGGGGAAATCTGGACTCTGAGCTTGACCTTGCATAATTTGAACCCTTCTGTCTCGGCCTCAGTTCCCTCATCTACAAGATGAGAAGATCAATTTGATTGGTCATCATCAATAAATCTTTCAGCTCTAAAAATTCCATAACTCTTAAAATATCGCAATTAAATGTCACACAAATTTTTCAGTTTCCCTGTGCATATAAAAGTTATGTTTACACTATACTCTCTGCAAGACAGTTTCCTAAAAAGTTGCATATACTGTGAGATTTTAACACTTTTTCCCCCATCCAAATGGCATTTCAAATGCATAAAAATAACTTATTCGTAAATTTTCTTTCTCTCTTTCTTGTTTTAGTATAGCACCTTGAAACTAAGATATTTCAGGTGGAAGTGCAGGGTAATAGGTTGCAGAACTCTCAAATAACAATCATGTATGTTTTGGTGGGCCATTTGGTATAGTGTGATTTCCTGAGAAACTTTAAAGGTAAGAGTCTGCACTGAAAAGTCACATTATTTACTATTACCTGGTTGTATTGAGAGGCCAGACTATTTAAGACAAAAGAAATCCAAGAATAAACATGTTTAGTTTTTTTGGAAAAAGCAACTTCCTACTTCTATTTTTATTTTTAACTTCTTGTACTGGTTTTTGTTGCTTGTGTTTGAAAAAAAAAAGTCTAAGAGTAATCATGCTTTTTTAAAGTCATGCATTATCATTTGTATTATTTTGATAACTTCAACACAAATTGTAAGTTGAGATAACAACACACACTCTCAATACCTTGAGCAGAATATTCACGGTAAGTTGCAATGAATGAAAACCAAAACAAGAAAGAACAACTGTAACCCAAGCATCATGGAAGCACACTGATTCGTTTTTTAAAAGAGATACTTAGCTAGTTCTTAGCAAAAAGCTAAGCCTAATTCTCTCATAGTCTTAATTCCCACTTGGAAACATGCAGTCAAGTTTACCTACCTCCACCACACCATGATGAATGGATGTGTACTGTTTCTTCTTCAGCATCACCAAGGTGATGACGATCACTGTCGCTATGACAACACCGCCCACCATGAGTCCAATGATTGCACCTTTGTTTGAACCCACATCTTCTGCAAAGAACACCTTGAAAACAAATTAAGAAAAAGAATTTTAATTTCTAAATGCAATATAATTTACAATTTATAAACGCAATTAGAAGAATTTCATTTCTTAAATGCAGGGGACATTTGGATGAGGTTATATAAAAAGTTTCAGTATATTCTCTGCCCAACTGGTTGGTCAAATATTTGATGCTTACTTTAAAAAAAAAAAAAAAAAAAGAAATCACATATTTTCCTACTAAGAATGATAATCATAGTTTATAGAAGGATGTACAACATGTGGCTTCCCCAGTTCGAGGAAGTCTACTTTCCCCACAGGTCAAAACCGAAGTCTGCAGGGACCTGAAACCCTTTGACAGGTGGAACATTTGGTGAGTGGTGGGAAGATAGCGCTTGGATCTATCAAAAGCTGGAAAGGCACGATCATACTAATGAAAGGAGGTCAGCATTTTCCTAGTCATAGCACTCTGAGCCCTGATGTGTGACTCTAAGTGACTGAGACTTAGGTGTTTTTCAACTCTGCAGATGTCCTAATTTCCTTGGAGGGACACTTTTAATGCACAGGAATAGGCATTCTGAAACAAAGGAGTTAAACAATAGAAAAAAAGATATCTTGTTACCTACTTTTAGCTATAGTAATTCTGCAGAATTCTAATTAACCTTTAGCAGTGTAATGCTTTTTAAAGCATAATGTTATTTCAAAGTGAAGTACAGGCAACAAGAATTTTAAGTCACTCATAACTCATGCTTTCTAACTATTGTCTCCAGAAACCAAAATCTGAAATGTTGCTTTATTCTTGCTCTTTATTTGGATTAAACATAAAAATAATTTTGAGAACATTGTAAAGAAGGAATAAAATTTCATTTACTGCACTACATTGCTTCATACTGTTTATAAAAGCAAGTCATTATTTTTCAACTTTATCTACTTGAATGAAATTATAGAAGCACACCACAACTTTTATCATCTTGTTATATAAGGAGTTGATCTTATGCCAGATGAAGTAAAACTAAAGCTAAATATTACCACGTTTGCTCTGCAACTTAATGAAAATACAGGCATACATAGCTTTATTGTACAGTAGTGCTTACAGATAGTATTTAAAAAAAAAAAACAAAAAGGTTTCTGGTAACCCTGCATCGAACAAGTCTATTGGTGCCATTTTTCCAACAGTGAACACAGGTTCACTTCATGTCTGTGTCACATTTTGGTAATTATTTAAATATTCAAACATTAAAAATTATTATATCTGTTTGGTGATCTGTGATCAGTGGCCTTTGATGTTACTATTTTAATTGTTTTGGAGTGTCATGAAACATGCCCATAAAGACAGCAAACTAAATCAATAAATGTTGTGTGTGTTCTGTCTGCCCCCCAAACTGGCCACTCCACCCCCTCAACTCCCAGGCTCCCTATCCCTTGAGAGACAACAATATTGAAAGTGGGCCAGTAAATAACCCTACAGTGGCCTCTTAAGTATTCAAGTGAAAGGAAGAGTCACAGGTCTCTCACTTTAAAGCAAAAGCTAGAAATAATTAAGCTTAGTGGGCAAGGCATATTGAAAGCCAAGATTCTTGTGCCAGTTAGCCAAGTTGTGAATGCAAAGAAAAGCTCTTGAAGGAGATTAAAAGTGCTACTCCAGTGAGCACACAAATGATAAAGCAAAACAGCCTTATTGCTGATACGGAGAAAACTTTTAGTTGTCTGGATGGAAGATCAAACCAACCACAACATTCTCTTAGGCCAAAGCCTAATCAAGAACAAGGCCCACAACTGTCTTCAATTCTATGAAGGATGAGAGAGGTGAAGAAGCTGCAGAAGAAAAAAAAGTTGGGAGAGGTTGATTTCATGAGGTTTAAGGGAAGAAGCCATCTCCATAACACAGAAGTGCAAGGTGAAGCAGCAAGTGCTGATGTAGAAGCTGCAATAAGTTATCCAGAAGATCTAGATAAGACTCCTGATGAAGGTGGCTACACTAAATAACAGA
|
GCTGAGAGTGAGGTAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGAAAGAGCAAGACTCCATCTCAAAAAACAAAGAAACAACAACAACAAAAGAAAACAACAAAACCATGAAAAAAACCAAAACAACAACAGCAGCAAAAAAGGGGTCTTGAATTACTCAAGTATGAAGACATCTTTATTTGCTCAAATATGGAATTAAATTTTTTTAAAAATTAATTTGAGCAGAAATGAAATAAGCTGATACTAATGAAAACCTATCTTACACTGTTTTGAGGGACATAAGCTTAGATACTATCACAAAAGGTGCAATGGCCAAACATGACAGTGGGGTCATTGCTTTTATGTGCTCACACTCTGATCTATGGGTCAGTCCGTTCCTTTCCACCCTGCTGCCTGCTGTTCTCTTGGTTTCCTTCCTCACACTGCTCATCCACGTCAGTATGAATGGGGAAATGAGGCTCCACCCCAATTTCCATCAGCAGCTTCTGTTGTAGTCTGCAGAGGTTTTAATTGCTGAGCAAAATGAAATTTCTGGCTTCACCACAAATTTCATTTATTTAAACTCTGCCTGTCCTCTTCTAATCAAGAATGGTTTAGAGCCCATTTCCTTGGGGATAGTGGAATCTTCAACTCCCTAGAAACACCTGGACTTTTCTCTGATGGAAAAAGCAATGGGGGCCAGACGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAACAAAAATTAGCCGGGCATGGTGGCGTGTGCCCATAGTCCCAGCTACTCAGGAAGCTGAGACAAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCCAGCCTGGGCAACAGCGCGAGACTGTCTCAAAAAAAAAAAAAAAAAGCAATGGGGAATATGAGGGGAAATCTGGACTCTGAGCTTGACCTTGCATAATTTGAACCCTTCTGTCTCGGCCTCAGTTCCCTCATCTACAAGATGAGAAGATCAATTTGATTGGTCATCATCAATAAATCTTTCAGCTCTAAAAATTCCATAACTCTTAAAATATCGCAATTAAATGTCACACAAATTTTTCAGTTTCCCTGTGCATATAAAAGTTATGTTTACACTATACTCTCTGCAAGACAGTTTCCTAAAAAGTTGCATATACTGTGAGATTTTAACACTTTTTCCCCCATCCAAATGGCATTTCAAATGCATAAAAATAACTTATTCGTAAATTTTCTTTCTCTCTTTCTTGTTTTAGTATAGCACCTTGAAACTAAGATATTTCAGGTGGAAGTGCAGGGTAATAGGTTGCAGAACTCTCAAATAACAATCATGTATGTTTTGGTGGGCCATTTGGTATAGTGTGATTTCCTGAGAAACTTTAAAGGTAAGAGTCTGCACTGAAAAGTCACATTATTTACTATTACCTGGTTGTATTGAGAGGCCAGACTATTTAAGACAAAAGAAATCCAAGAATAAACATGTTTAGTTTTTTTGGAAAAAGCAACTTCCTACTTCTATTTTTATTTTTAACTTCTTGTACTGGTTTTTGTTGCTTGTGTTTGAAAAAAAAAAGTCTAAGAGTAATCATGCTTTTTTAAAGTCATGCATTATCATTTGTATTATTTTGATAACTTCAACACAAATTGTAAGTTGAGATAACAACACACACTCTCAATACCTTGAGCAGAATATTCACGGTAAGTTGCAATGAATGAAAACCAAAACAAGAAAGAACAACTGTAACCCAAGCATCATGGAAGCACACTGATTCGTTTTTTAAAAGAGATACTTAGCTAGTTCTTAGCAAAAAGCTAAGCCTAATTCTCTCATAGTCTTAATTCCCACTTGGAAACATGCAGTCAAGTTTACCTACCTCCACCACACCATGATGAATGGATGTGTACTGTTTCTTCTTCAGCATCACCAAGGTGATGACGACAACTGTCGCTATGACAACACCGCCCACCATGAGTCCAATGATTGCACCTTTGTTTGAACCCACATCTTCTGCAAAGAACACCTTGAAAACAAATTAAGAAAAAGAATTTTAATTTCTAAATGCAATATAATTTACAATTTATAAACGCAATTAGAAGAATTTCATTTCTTAAATGCAGGGGACATTTGGATGAGGTTATATAAAAAGTTTCAGTATATTCTCTGCCCAACTGGTTGGTCAAATATTTGATGCTTACTTTAAAAAAAAAAAAAAAAAAAGAAATCACATATTTTCCTACTAAGAATGATAATCATAGTTTATAGAAGGATGTACAACATGTGGCTTCCCCAGTTCGAGGAAGTCTACTTTCCCCACAGGTCAAAACCGAAGTCTGCAGGGACCTGAAACCCTTTGACAGGTGGAACATTTGGTGAGTGGTGGGAAGATAGCGCTTGGATCTATCAAAAGCTGGAAAGGCACGATCATACTAATGAAAGGAGGTCAGCATTTTCCTAGTCATAGCACTCTGAGCCCTGATGTGTGACTCTAAGTGACTGAGACTTAGGTGTTTTTCAACTCTGCAGATGTCCTAATTTCCTTGGAGGGACACTTTTAATGCACAGGAATAGGCATTCTGAAACAAAGGAGTTAAACAATAGAAAAAAAGATATCTTGTTACCTACTTTTAGCTATAGTAATTCTGCAGAATTCTAATTAACCTTTAGCAGTGTAATGCTTTTTAAAGCATAATGTTATTTCAAAGTGAAGTACAGGCAACAAGAATTTTAAGTCACTCATAACTCATGCTTTCTAACTATTGTCTCCAGAAACCAAAATCTGAAATGTTGCTTTATTCTTGCTCTTTATTTGGATTAAACATAAAAATAATTTTGAGAACATTGTAAAGAAGGAATAAAATTTCATTTACTGCACTACATTGCTTCATACTGTTTATAAAAGCAAGTCATTATTTTTCAACTTTATCTACTTGAATGAAATTATAGAAGCACACCACAACTTTTATCATCTTGTTATATAAGGAGTTGATCTTATGCCAGATGAAGTAAAACTAAAGCTAAATATTACCACGTTTGCTCTGCAACTTAATGAAAATACAGGCATACATAGCTTTATTGTACAGTAGTGCTTACAGATAGTATTTAAAAAAAAAAAACAAAAAGGTTTCTGGTAACCCTGCATCGAACAAGTCTATTGGTGCCATTTTTCCAACAGTGAACACAGGTTCACTTCATGTCTGTGTCACATTTTGGTAATTATTTAAATATTCAAACATTAAAAATTATTATATCTGTTTGGTGATCTGTGATCAGTGGCCTTTGATGTTACTATTTTAATTGTTTTGGAGTGTCATGAAACATGCCCATAAAGACAGCAAACTAAATCAATAAATGTTGTGTGTGTTCTGTCTGCCCCCCAAACTGGCCACTCCACCCCCTCAACTCCCAGGCTCCCTATCCCTTGAGAGACAACAATATTGAAAGTGGGCCAGTAAATAACCCTACAGTGGCCTCTTAAGTATTCAAGTGAAAGGAAGAGTCACAGGTCTCTCACTTTAAAGCAAAAGCTAGAAATAATTAAGCTTAGTGGGCAAGGCATATTGAAAGCCAAGATTCTTGTGCCAGTTAGCCAAGTTGTGAATGCAAAGAAAAGCTCTTGAAGGAGATTAAAAGTGCTACTCCAGTGAGCACACAAATGATAAAGCAAAACAGCCTTATTGCTGATACGGAGAAAACTTTTAGTTGTCTGGATGGAAGATCAAACCAACCACAACATTCTCTTAGGCCAAAGCCTAATCAAGAACAAGGCCCACAACTGTCTTCAATTCTATGAAGGATGAGAGAGGTGAAGAAGCTGCAGAAGAAAAAAAAGTTGGGAGAGGTTGATTTCATGAGGTTTAAGGGAAGAAGCCATCTCCATAACACAGAAGTGCAAGGTGAAGCAGCAAGTGCTGATGTAGAAGCTGCAATAAGTTATCCAGAAGATCTAGATAAGACTCCTGATGAAGGTGGCTACACTAAATAACAGA
|
pathogenic
| 317,337 |
The mutation in gene APP (amyloid beta precursor protein) at chromosome 21, position 25897626—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['APP-related_disorder', 'Alzheimer_disease', 'Alzheimer_disease_type_1']
|
AATTCTTTCAATTTAGCCTCAAGGTAGTCAAATGACTGATTTTTCTAAGCTGAAACTAACATACTAGCAATCTGGAAAGGCAATATAAAATATAGCAAATGAAGCAACTTCTAAAAGTGTTTTACTCGTGGTTTATAACAAAATGAGAAATTGTTCATAATTATTCCCTTTACTAAACAAATATGCTAGCTCAACATTTTTATGAAAAGCAAATCATTAATTAGCTAATATACTAGTGTGAGGTAATCAGGAATAAATACAAGTCTGGACATATGCCTGTGCCTTTAAGAAAATACTGTAATTTTGTAATATTCATTGCACTAATTATAATACATTATCTTAACTAGTCCAGTAGAGGGAGCTGATTCTCCTAATTGCTGCCGCTGCCATTAGTCACTGTCGCATTATAGGCGTTAGTGTAATTGTGGGGATGGGCTTATATGACACAGGCCCCAGGCCCCGACAAATGCAAATCTGTACATTAATCGTCAGCTTTCTACCCCACCAACTCTTCAACTCTTTAGTGGTTCCCCAGTTTTTATTAACCTCTTCAGCAACAGCCTCATCAAGAGAAACCCTGATCTTATAACAACTGATACTAGATTATCTTGCCAATGAAAACCATGCTTCAAAAAGCTAAATGTCTTTCTACAAAAAAAGAACTATGGGAGTTAAGAATGCAAATCCAAATCCCAAGTCAGTTTTTTATTTGCTACAATTATTTGGAGTCAAGTAAGGCATAAATAATAATTTGGAGGTGTTTCTTTTAGAGATTAATACTAGGATTTATCAACTTTATGAATATTGAAAAGACATTTTCTGCTTGGAAAAAAGTAACACTCACACACACACACACACAAAACAAAACAAAAGAAGTGCCTGAGATAACTTTAAGTATTATTGCTATGGAAATTTTCTTACCATTTTTCTGTCCACCACTGAATGTGATAAAATTGTCGTCTTCATTAATTTAACCCTCTTACTGCACCTACTGATAAGATGGAACCCTAACATAATCCACGATTTGATTTATCTCCATTTCTAAGCTTTTGGTAAAGGATTTTATATAACTACTAGAGCTGACCACAAAGGAGATGTGGCTTTTTGATTTACTCCAATTCTAACATTAGGGGGGAAAAGTGATTTCATCTGAAAAGGAAGCTGCTGTCTTCTTTGCACAAACCTTTTGATGAATAACACTATCGGGAACATCATGGGGTCCTGCTCACTCCATGATCTTACTCTTGCAAGAGAAGTTAAATCATGGGAGGTAGGGGAGGGAATGAAAAGAAAGAGCTGGGGGAGAAATGAATGGGTAAAGGAAGACAGTTCCGGATGTGAATTTAAGCCACATAAAGTGTTCTGTAAAACCAAGCAGTGTATGCATGTGTTTGATCCTTCAAATAAACCTATTGTAAACCTATTTTCCCAGAAAACACAGTGGAAGTCAAAGTGGCTGCTATATTGAAATTAATTCCACTTTAAGTCCCGAGTCATGCACGAACTTTGCTGCCTTGTAGTCTGAAAGAACTATACATACAGCCTCTTTCTTTTCTTTTTTTTTTTTGGGATGGAGTCTCGCTCTGTCGCCTAGGCACGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAAGTCTCCTGCGTCAGCCTCCCCAGCAGCTGGGACTACAGGTGTTTGCCACCACACCCAGCTAATCTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAATTTCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCGCTCAGCCTAGCCTATTTATTTTCTTCATGTTTTCATGGTAATCCTATAGGCAAGCATTGTATTTTTATCTTTTCCTTAATTTGATTTCTAGCACAGGATGAACCAGAGTTAATAGGTCATTTGGCAAGACAAACAGTAGTGGAAAGAGGTAAATTATTTTACGTACCAATTTTTGATGATGAACTTCATATCCTGAGTCATGTCGGAATTCTGCATCCATCTTCACTTCAGAGATCTCCTCCGTCTTGATATTTGTCAACCCAGAACCTGTATTACATCATAATTAAAGTATGCAGGACAACCAATTAGTTTTACTCATAAATAATAACACTGTAAGACAAAGCCTACCCAAAACTTCTTTCTAGGCCTGAAGTTAGAAGAAAATTGATAAATGACTCTTAAAGAAAAATGATACCCTATATTTAAAACTTCAATTACTACCTATTTTGAACAAAAAGAAATGAAAGGGTAAGGGAAACCTGAAAGTAAGGCTTCTGCTGCCTTTAAATACATGCTATAATTTTTGAAAATGGGGGAAAAGCAGAAGTTAAATCCTGGTTGAGAGGTTGGCAAGGATTTGTTCCTGGAATATGTTGGCTTGGCTTACGGGCTTATTGTTTAGCCTATTATGTGTCTTTTTCCATGTGCACTCATTACTTCAGAAATAATAATAAAAGGCTTTAAAAATGAGCATTAATTACCTGGTAGAACAAAACTGCTACTTTGGGGCTTTGTTCCAATTACAAATAAATTATGTTCATGTATCTATGCAGTGAAGCGTTGTAAAAATTATATAATTTTAGTCAAGTGTTCTAGTTACACAGATTGTAATTGGTTCGTCTGCTGAATAAAGAGCTATAGTACATAATTTTAAAAATGCTTCTTAGCAACTAACAGAATTTATAACCTACGAACTCTTCCTTTTCTATAAATTGCTATATGATTCTTAACACTAATTGTTCTGATGAATTTCATTATTCAAATAATAATTTGAAGCTTAAAACAAAATGCAGAGTCATTTAAAAACCAAAAACATAAGTAAAAAATGTAAATGTCAGTGTCCATGCTATAACATTTAATTATCAAACATCAGAATTTTAGGATGAAAAGGGCTTTTGAAGTCATCTTCTCTACCGTGTTCCCACCCAGGGGCAGATTGTCAGTTCCTGTTTGAACATAGAGGAATGTATCAATTTCCCTCCATTTTTTGATAGATTTGCCTGCCCAAACTGTCCTTTTTTTACATGAAGCCAGAATCAGCTTCCCTGTAACTTCCATCCTTTGAGCCTGATTCAACACAGAGCAAGCCTAATCCTCCCTTCCACATTAAAACCTTGAACAGGTATCACGACCCTAAGGAGAGGCATGTTCCTGCTGGTTCTTGTCTTACTTGGGCTACACATTCCCAATTCCTTTGGCTCCCAGGGGAATTCACTTCCTGCTCTTGGCCTAATCACTCTTTCAATCTTGTCTACGAGATTCTGGGAAACTTGTGACACATCTTGCTGACACTGAAAAGCACAATGTCCACAGCATATGATGTGCCAGTCTAAGAGCACAGCCTATACAAGGAGAAGGTAAGGATAATCTGACAAAACCTAGGAAATCCACGCTGGTTGTGACCTAGCACCATTTCCTCATCCAATTGTTCAAAAAGCTTCCACTTGATAACCTATTTGAAAAGAGACCCACAATCAATGTCACTCTATACCTGGCTTACAGATTGTGAAGCTATCTTCTCTCCTTTTTGCTATTCAGAACTTCATTTTCCTATCCCTACCTTCCCAGCTTTCCACAAAGACCACAGGCAATGGTGCTACTTCCCCTTCAAGTTCTCTTAGCCTGCAGTTGGTCTGGGTCATAAGAACTTGGACTTGGGTAGCAAGATGTCATAGTTTAAAATATATCCACAAATTTGCTGATACTCCTTCCTTCAAGAGGGAGAACTTGATTCCCTTCCTTCGAATGTGGTCGGGATGTAGTGACTTGCTCTAGTGAACAGAGCATGATAGAAGTGATGGTGTATGACTTCTGAGACTGGGCCAAAAAAGGCACTAAAACTTCCTTAATCTCTTTCCTGGACCTCTTGGTGCAGGGGTGCGAGATGCCATGTTGTAGGGACGCTCAAGCAGCATTACAGAGTTCACATGGTAAGATACTGAGGTCTCTTAGTAACAGTGACGTGAGTGAGCCACGTTGGAAACAGACCCACCAGGTCCAATCAAACCTTCAGATGACTTTAGCTCAGGCAGTGTCTTAACTGCAAC
|
AATTCTTTCAATTTAGCCTCAAGGTAGTCAAATGACTGATTTTTCTAAGCTGAAACTAACATACTAGCAATCTGGAAAGGCAATATAAAATATAGCAAATGAAGCAACTTCTAAAAGTGTTTTACTCGTGGTTTATAACAAAATGAGAAATTGTTCATAATTATTCCCTTTACTAAACAAATATGCTAGCTCAACATTTTTATGAAAAGCAAATCATTAATTAGCTAATATACTAGTGTGAGGTAATCAGGAATAAATACAAGTCTGGACATATGCCTGTGCCTTTAAGAAAATACTGTAATTTTGTAATATTCATTGCACTAATTATAATACATTATCTTAACTAGTCCAGTAGAGGGAGCTGATTCTCCTAATTGCTGCCGCTGCCATTAGTCACTGTCGCATTATAGGCGTTAGTGTAATTGTGGGGATGGGCTTATATGACACAGGCCCCAGGCCCCGACAAATGCAAATCTGTACATTAATCGTCAGCTTTCTACCCCACCAACTCTTCAACTCTTTAGTGGTTCCCCAGTTTTTATTAACCTCTTCAGCAACAGCCTCATCAAGAGAAACCCTGATCTTATAACAACTGATACTAGATTATCTTGCCAATGAAAACCATGCTTCAAAAAGCTAAATGTCTTTCTACAAAAAAAGAACTATGGGAGTTAAGAATGCAAATCCAAATCCCAAGTCAGTTTTTTATTTGCTACAATTATTTGGAGTCAAGTAAGGCATAAATAATAATTTGGAGGTGTTTCTTTTAGAGATTAATACTAGGATTTATCAACTTTATGAATATTGAAAAGACATTTTCTGCTTGGAAAAAAGTAACACTCACACACACACACACACAAAACAAAACAAAAGAAGTGCCTGAGATAACTTTAAGTATTATTGCTATGGAAATTTTCTTACCATTTTTCTGTCCACCACTGAATGTGATAAAATTGTCGTCTTCATTAATTTAACCCTCTTACTGCACCTACTGATAAGATGGAACCCTAACATAATCCACGATTTGATTTATCTCCATTTCTAAGCTTTTGGTAAAGGATTTTATATAACTACTAGAGCTGACCACAAAGGAGATGTGGCTTTTTGATTTACTCCAATTCTAACATTAGGGGGGAAAAGTGATTTCATCTGAAAAGGAAGCTGCTGTCTTCTTTGCACAAACCTTTTGATGAATAACACTATCGGGAACATCATGGGGTCCTGCTCACTCCATGATCTTACTCTTGCAAGAGAAGTTAAATCATGGGAGGTAGGGGAGGGAATGAAAAGAAAGAGCTGGGGGAGAAATGAATGGGTAAAGGAAGACAGTTCCGGATGTGAATTTAAGCCACATAAAGTGTTCTGTAAAACCAAGCAGTGTATGCATGTGTTTGATCCTTCAAATAAACCTATTGTAAACCTATTTTCCCAGAAAACACAGTGGAAGTCAAAGTGGCTGCTATATTGAAATTAATTCCACTTTAAGTCCCGAGTCATGCACGAACTTTGCTGCCTTGTAGTCTGAAAGAACTATACATACAGCCTCTTTCTTTTCTTTTTTTTTTTTGGGATGGAGTCTCGCTCTGTCGCCTAGGCACGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAAGTCTCCTGCGTCAGCCTCCCCAGCAGCTGGGACTACAGGTGTTTGCCACCACACCCAGCTAATCTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAATTTCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCGCTCAGCCTAGCCTATTTATTTTCTTCATGTTTTCATGGTAATCCTATAGGCAAGCATTGTATTTTTATCTTTTCCTTAATTTGATTTCTAGCACAGGATGAACCAGAGTTAATAGGTCATTTGGCAAGACAAACAGTAGTGGAAAGAGGTAAATTATTTTACGTACCAATTTTTGATGATGAACTTCATATCCTGAGTCATGTCGGAATTCTGCATCCAGATTCACTTCAGAGATCTCCTCCGTCTTGATATTTGTCAACCCAGAACCTGTATTACATCATAATTAAAGTATGCAGGACAACCAATTAGTTTTACTCATAAATAATAACACTGTAAGACAAAGCCTACCCAAAACTTCTTTCTAGGCCTGAAGTTAGAAGAAAATTGATAAATGACTCTTAAAGAAAAATGATACCCTATATTTAAAACTTCAATTACTACCTATTTTGAACAAAAAGAAATGAAAGGGTAAGGGAAACCTGAAAGTAAGGCTTCTGCTGCCTTTAAATACATGCTATAATTTTTGAAAATGGGGGAAAAGCAGAAGTTAAATCCTGGTTGAGAGGTTGGCAAGGATTTGTTCCTGGAATATGTTGGCTTGGCTTACGGGCTTATTGTTTAGCCTATTATGTGTCTTTTTCCATGTGCACTCATTACTTCAGAAATAATAATAAAAGGCTTTAAAAATGAGCATTAATTACCTGGTAGAACAAAACTGCTACTTTGGGGCTTTGTTCCAATTACAAATAAATTATGTTCATGTATCTATGCAGTGAAGCGTTGTAAAAATTATATAATTTTAGTCAAGTGTTCTAGTTACACAGATTGTAATTGGTTCGTCTGCTGAATAAAGAGCTATAGTACATAATTTTAAAAATGCTTCTTAGCAACTAACAGAATTTATAACCTACGAACTCTTCCTTTTCTATAAATTGCTATATGATTCTTAACACTAATTGTTCTGATGAATTTCATTATTCAAATAATAATTTGAAGCTTAAAACAAAATGCAGAGTCATTTAAAAACCAAAAACATAAGTAAAAAATGTAAATGTCAGTGTCCATGCTATAACATTTAATTATCAAACATCAGAATTTTAGGATGAAAAGGGCTTTTGAAGTCATCTTCTCTACCGTGTTCCCACCCAGGGGCAGATTGTCAGTTCCTGTTTGAACATAGAGGAATGTATCAATTTCCCTCCATTTTTTGATAGATTTGCCTGCCCAAACTGTCCTTTTTTTACATGAAGCCAGAATCAGCTTCCCTGTAACTTCCATCCTTTGAGCCTGATTCAACACAGAGCAAGCCTAATCCTCCCTTCCACATTAAAACCTTGAACAGGTATCACGACCCTAAGGAGAGGCATGTTCCTGCTGGTTCTTGTCTTACTTGGGCTACACATTCCCAATTCCTTTGGCTCCCAGGGGAATTCACTTCCTGCTCTTGGCCTAATCACTCTTTCAATCTTGTCTACGAGATTCTGGGAAACTTGTGACACATCTTGCTGACACTGAAAAGCACAATGTCCACAGCATATGATGTGCCAGTCTAAGAGCACAGCCTATACAAGGAGAAGGTAAGGATAATCTGACAAAACCTAGGAAATCCACGCTGGTTGTGACCTAGCACCATTTCCTCATCCAATTGTTCAAAAAGCTTCCACTTGATAACCTATTTGAAAAGAGACCCACAATCAATGTCACTCTATACCTGGCTTACAGATTGTGAAGCTATCTTCTCTCCTTTTTGCTATTCAGAACTTCATTTTCCTATCCCTACCTTCCCAGCTTTCCACAAAGACCACAGGCAATGGTGCTACTTCCCCTTCAAGTTCTCTTAGCCTGCAGTTGGTCTGGGTCATAAGAACTTGGACTTGGGTAGCAAGATGTCATAGTTTAAAATATATCCACAAATTTGCTGATACTCCTTCCTTCAAGAGGGAGAACTTGATTCCCTTCCTTCGAATGTGGTCGGGATGTAGTGACTTGCTCTAGTGAACAGAGCATGATAGAAGTGATGGTGTATGACTTCTGAGACTGGGCCAAAAAAGGCACTAAAACTTCCTTAATCTCTTTCCTGGACCTCTTGGTGCAGGGGTGCGAGATGCCATGTTGTAGGGACGCTCAAGCAGCATTACAGAGTTCACATGGTAAGATACTGAGGTCTCTTAGTAACAGTGACGTGAGTGAGCCACGTTGGAAACAGACCCACCAGGTCCAATCAAACCTTCAGATGACTTTAGCTCAGGCAGTGTCTTAACTGCAAC
|
pathogenic
| 317,345 |
A genetic variant at chromosome 21, position 31663935, affecting gene SOD1 (superoxide dismutase 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
benign
|
ACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCATAGCCTGGTCCCTGCAGGGTTGTACCCGAGCACAGCTACTTAGATGTCCTGAATGTATTACCGGTTAAATGGAGGTTTCAAAGAACCTGCTGTTTTTGGCCCTGTGCTCTTGATAACAGAGTGTTTGAGGGACAACTTTCACATTTGAGTTTTTCCAAAATTAAAGGTTGTAGAAGAGTCACAGTATCTATTGTCAAAAAGAAAAGAATTTAAAAAGGCAGCAATTGCCAGGATACTTCATTTGAGCAATGATATTTTCCAGTGGAAAGTCACATCTTAAGGGTTAATGCCCCTTAACTGTTGGCCGTATTTGAAAACAAACCAAGCTAAAAACAAGAGACACTGACATGTTGTATGACGGTGTGGTGTGGATGTTGTGTTTATTTTAGTCCTGAGATCTAGTTGTAACTTCCTTGATTTCTGTATGTAGCCACGGAGCACCATTACCTGTCACCATTACCTGAATGGCTATACTGCTTGCTTTCATTTTGGTAGAGTGGAAAGGTTACCTAGGTTTCAGTGCTTGAAAAGATTTCAGAAAGCAGTAGTACGTCTGGTTAGACTAGAATCAGTCCTCTCCTGGGGGCAGTGGAATATAATATTTTCTGACTGCTAATTAAAAATACCTGTGATAGCCGGGCGTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGCAGATGGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAATTAGCCGGGTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCATGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCGTCTCAAAAAAAAAAAGAAAAAAACTTATGATGGACACTTAAAAACACTCACTGAGTGGGGAGTGGAGAGCAGGGGTCCCAGGGTAGCCTGTTGGACATTTCCAGGGCGACTTTTTCTTTTTTTTTTTTTAAAGTCAAGTGAGTATGCCATATGGAAAAGGGTGTGCGTGGAGAAAAAGCAAGGGGCTCCAGAGTGTAGGATGAGACATACACCTTTTGGGTTAAAAAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTTGTCTCAAAATAAAAAACGTTTACATGTACATGTATATTCAACATGTACAAATATAACCTATTCAAAAGTATTTACTACATAAATAGGTACTTACATTACCTATTTACTGTAATAGTCAAAGCCTATGAAGTATCTAACACTGATGTGTAGGTACTCACTTTGCTTGCCACTCTATTAGGTGCTTTTTATGTTATTTAATCATGAAGCCTGGCCACAGGGTGCTTGTGCATTGAGTGTGGGAACAAGATTACCATCTCCCTTTTGAGGACACAGGCCTAGAGCAGTTAAGCAGCTTGCTGGAGGTTCACTGGCTAGAAAGTGGTCAGCCTGGGATTTGGACACAGATTTTTCCACTCCCAAGTCTGGCTGCTTTTTACTTCACTGTGAGGGGTAAAGGTAAATCAGCTGTTTTCTTTGTTCAGAAACTCTCTCCAACTTTGCACTTTTCTTAAAGGAAAGTAATGGACCAGTGAAGGTGTGGGGAAGCATTAAAGGACTGACTGAAGGCCTGCATGGATTCCATGTTCATGAGTTTGGAGATAATACAGCAGGTGGGTGTTGTGCTGTGCTGGTGACCCATACTTGTTCACCCTAGTTAGATAAACAGTAGAGTAGCCCCTAAACGTTAAAACCCCTCAACTTGTTTTTGTTTTTGAGAAAGGGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCGCTGTGCGATCATGGCTGACCTTAGCCTTGACCTCCCAGGCTCCATTGATCCTCATGCCTTGGCCCGTAGCTGGGACTACAGGTACACACCACCACGCCTGGCTAATTTTTGTATTTTTTTCTAGAGGTGGGGTTTCATCATGTTGCCCAGGCTGGTCTTGAACTGCTGGGCTCAAGTGGTCTATCCTCCTCGACCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGGAAAACCCTCAACTTTTCTTTTAAAAAAGAGGTCAACTTTATTGTATATAAGCACTGTGCTAAAATTGCAGGAACTGGGACCATATCCTGATTTTTGTAATAATGCCAGCAGAGTACACACAAGAAAAGTAACTGCACTAGATTGTGAAGACTGGGGTGGACCTGCTTCTGAAGGTCCAGTGCCCTTTGTCTTAAGATTTGGTGTAGTGTGTCTTTAGAAACCAAAAAAAGAGAAGAAGATCAACCTTAAGATTAGCCACAAAACTGGGCTTTGATACCTAGGTGTGGAAAAGAAAGGGAAAGAGTTGATGTTTTGTCTTACAGCATCATTGTAGAAGAGGGTGTTTTTTTGTTTGTTTGTTTTTTGAGACGGAGTCTTACTCTGTGGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCCCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCCCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAAGATGGTCTCTCTCCTGACCTCGTGATCCGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGAAGAGGGTGTTTTTTAAAGAAGGCAAATAGGAAATAAAAACTTGGGCTCTTAACTTTTGTAATGATCCCAGGTGTTTGAGCTGGGGGTTGAGGGTGGGTGCCTCGAGCAAAGGGGCTGCATTTATTTGCATAATGCCATGTAAGAGTAGCTCTACACCCCAAACACAGGCTTCTTAGTGGGACCAAAGTATGATACAAACTGAAGATGGAATGCAGAGGATTATTGGTACTTTGGAATATGCTTAAAAAAAATTTTTTTAAAGTATTTTTAAAAAATCAGGCAACCCCTGAACCAGAGTAGGTTCAGAGAAACTGCCAAATTTTATTTTCTTAATTTGGGATTGGAAGCAAGTTAACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACAGCCGTGTTATGAAAGGGCCTCCTGTGCTGTCGAGGTTGTGCTCTGTGAATGTCATCCCCTGGTGCACAGCAGCACCTTCTACACAGGATACAGTTGGAATGCCGCCCCCTCGAGTTGTGTAAGGCAGCAGCCTTGGCCCTTGCACATAAGATGCTGTTGAATATTCTGCCTGCACCAAGTAAAGGGCACAGATAGAACTGCTTGGCATATGTTGCTGGGGAGATGAGTTTTTTGTAAAGTATACTACGTTCTTAAGAATTTGGATCATAACCATGGGATTTTAATAATAGAAAAACTGTTGAAGATCAGTCTGGTCCCTTATTTTTACAGTGAAGAAGCCAAAGCCCAGAGAAGGGTGTTAACTTTACAAGTGTCAGACAGTAGTTAGAACTTGGTGGGGTTTTTTTTTTTT
|
ACTTGGCTTGGCCTATTCCGTGTTTAAAATCTTGGACTCTTTGCTAGTTTTTACAGATCAGAATTTTTCACGTATTAATCCAGTTTTCCTAGCTTCTCTTGAAGAATTTTTGGAGATCTCTTCATACTGAGCCTTCATTAGCCCAGGACAGTACTGCTGTAGCAGTTCATATATTTTTTCGCTTCCCAGGCCTGTGTTATTCACTTAAGTTCATAGCCTGGTCCCTGCAGGGTTGTACCCGAGCACAGCTACTTAGATGTCCTGAATGTATTACCGGTTAAATGGAGGTTTCAAAGAACCTGCTGTTTTTGGCCCTGTGCTCTTGATAACAGAGTGTTTGAGGGACAACTTTCACATTTGAGTTTTTCCAAAATTAAAGGTTGTAGAAGAGTCACAGTATCTATTGTCAAAAAGAAAAGAATTTAAAAAGGCAGCAATTGCCAGGATACTTCATTTGAGCAATGATATTTTCCAGTGGAAAGTCACATCTTAAGGGTTAATGCCCCTTAACTGTTGGCCGTATTTGAAAACAAACCAAGCTAAAAACAAGAGACACTGACATGTTGTATGACGGTGTGGTGTGGATGTTGTGTTTATTTTAGTCCTGAGATCTAGTTGTAACTTCCTTGATTTCTGTATGTAGCCACGGAGCACCATTACCTGTCACCATTACCTGAATGGCTATACTGCTTGCTTTCATTTTGGTAGAGTGGAAAGGTTACCTAGGTTTCAGTGCTTGAAAAGATTTCAGAAAGCAGTAGTACGTCTGGTTAGACTAGAATCAGTCCTCTCCTGGGGGCAGTGGAATATAATATTTTCTGACTGCTAATTAAAAATACCTGTGATAGCCGGGCGTGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGCAGATGGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAATTAGCCGGGTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCATGTCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCGTCTCAAAAAAAAAAAGAAAAAAACTTATGATGGACACTTAAAAACACTCACTGAGTGGGGAGTGGAGAGCAGGGGTCCCAGGGTAGCCTGTTGGACATTTCCAGGGCGACTTTTTCTTTTTTTTTTTTTAAAGTCAAGTGAGTATGCCATATGGAAAAGGGTGTGCGTGGAGAAAAAGCAAGGGGCTCCAGAGTGTAGGATGAGACATACACCTTTTGGGTTAAAAAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTTGTCTCAAAATAAAAAACGTTTACATGTACATGTATATTCAACATGTACAAATATAACCTATTCAAAAGTATTTACTACATAAATAGGTACTTACATTACCTATTTACTGTAATAGTCAAAGCCTATGAAGTATCTAACACTGATGTGTAGGTACTCACTTTGCTTGCCACTCTATTAGGTGCTTTTTATGTTATTTAATCATGAAGCCTGGCCACAGGGTGCTTGTGCATTGAGTGTGGGAACAAGATTACCATCTCCCTTTTGAGGACACAGGCCTAGAGCAGTTAAGCAGCTTGCTGGAGGTTCACTGGCTAGAAAGTGGTCAGCCTGGGATTTGGACACAGATTTTTCCACTCCCAAGTCTGGCTGCTTTTTACTTCACTGTGAGGGGTAAAGGTAAATCAGCTGTTTTCTTTGTTCAGAAACTCTCTCCAACTTTGCACTTTTCTTAAAGGAAAGTAATGGACCAGTGAAGGTGTGGGGAAGCATTAAAGGACTGACTGAAGGCCTGCATGGATTCCATGTTCATGAGTTTGGAGATAATACAGCAGGTGGGTGTTGTGCTGTGCTGGTGACCCATACTTGTTCACCCTAGTTAGATAGAGTAGCCCCTAAACGTTAAAACCCCTCAACTTGTTTTTGTTTTTGAGAAAGGGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCGCTGTGCGATCATGGCTGACCTTAGCCTTGACCTCCCAGGCTCCATTGATCCTCATGCCTTGGCCCGTAGCTGGGACTACAGGTACACACCACCACGCCTGGCTAATTTTTGTATTTTTTTCTAGAGGTGGGGTTTCATCATGTTGCCCAGGCTGGTCTTGAACTGCTGGGCTCAAGTGGTCTATCCTCCTCGACCTCCCAAAGTGCTGGGATTACATGTGTGAGCCACTGTGCCTGGGAAAACCCTCAACTTTTCTTTTAAAAAAGAGGTCAACTTTATTGTATATAAGCACTGTGCTAAAATTGCAGGAACTGGGACCATATCCTGATTTTTGTAATAATGCCAGCAGAGTACACACAAGAAAAGTAACTGCACTAGATTGTGAAGACTGGGGTGGACCTGCTTCTGAAGGTCCAGTGCCCTTTGTCTTAAGATTTGGTGTAGTGTGTCTTTAGAAACCAAAAAAAGAGAAGAAGATCAACCTTAAGATTAGCCACAAAACTGGGCTTTGATACCTAGGTGTGGAAAAGAAAGGGAAAGAGTTGATGTTTTGTCTTACAGCATCATTGTAGAAGAGGGTGTTTTTTTGTTTGTTTGTTTTTTGAGACGGAGTCTTACTCTGTGGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCCCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCCCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAAGATGGTCTCTCTCCTGACCTCGTGATCCGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGAAGAGGGTGTTTTTTAAAGAAGGCAAATAGGAAATAAAAACTTGGGCTCTTAACTTTTGTAATGATCCCAGGTGTTTGAGCTGGGGGTTGAGGGTGGGTGCCTCGAGCAAAGGGGCTGCATTTATTTGCATAATGCCATGTAAGAGTAGCTCTACACCCCAAACACAGGCTTCTTAGTGGGACCAAAGTATGATACAAACTGAAGATGGAATGCAGAGGATTATTGGTACTTTGGAATATGCTTAAAAAAAATTTTTTTAAAGTATTTTTAAAAAATCAGGCAACCCCTGAACCAGAGTAGGTTCAGAGAAACTGCCAAATTTTATTTTCTTAATTTGGGATTGGAAGCAAGTTAACAGAAGTTTATGAGTTAAGTTGCATTTAGTGATCTTTTGCCATATTTGAGTAATAATCTGATTTTTTTGTTTATAGATTTCTTCTTAAATTAACTTTATTCATCTTGCTAATTTAGTTTCAAATAGTGATTTGTAATGATCAGATTTGATCCATTTCTGTAATTGCTGAAATTCCCCCGAGTTGCTTTTTGGCTTTACCGCCTCTGGTCTGGGAGGTGATTGCTCTGCTGCTTCCTGTAACTTGCCTGCCTTTCTCCCTGTGTGGGACTCCTGCGGGTGAGAGCGTGGCTGAAGACAGCCGTGTTATGAAAGGGCCTCCTGTGCTGTCGAGGTTGTGCTCTGTGAATGTCATCCCCTGGTGCACAGCAGCACCTTCTACACAGGATACAGTTGGAATGCCGCCCCCTCGAGTTGTGTAAGGCAGCAGCCTTGGCCCTTGCACATAAGATGCTGTTGAATATTCTGCCTGCACCAAGTAAAGGGCACAGATAGAACTGCTTGGCATATGTTGCTGGGGAGATGAGTTTTTTGTAAAGTATACTACGTTCTTAAGAATTTGGATCATAACCATGGGATTTTAATAATAGAAAAACTGTTGAAGATCAGTCTGGTCCCTTATTTTTACAGTGAAGAAGCCAAAGCCCAGAGAAGGGTGTTAACTTTACAAGTGTCAGACAGTAGTTAGAACTTGGTGGGGTTTTTTTTTTTTNNNNNNN
|
benign
| 317,460 |
Evaluate this variant at chromosome 21, position 32299077, gene MRAP (melanocortin 2 receptor accessory protein): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Glucocorticoid_deficiency_1', 'Glucocorticoid_deficiency_2']
|
ATGTGACCACTGTTCTATATGGAGCTGGTCATTGATGGAAGCATTATTAGTCAGCATTTGACTGTATTTGATCTTTGTCCCTGGTAGCACAGAACTCATAAAACTTGCAATATCTGAGTAATGGGGTAAGAGAAGCATCTTCTGTTAATCAGCATAAGCCACTTTCAACTCTACCTGAGTTTATGCCAATGAGGTGGGGGCTAGTTGTCAGAGGAACCAACCATATATTAGAGGGTTGCAATGTTCACTCCCACCCTGGAAAGGGGAGAGAGGCTGGGGATTGAGTTCATTCACTGATAGCCAGTGATTTCATCAATGGTGCCCACATAATGGAATATAATAATCATCTAGATGGCATAGCACATGATAAAACCCTACAAAAACCCTCCTCAAGGGGCTTCAGAGAACTTCCAAGTTGGTGAACACATTGAGGTGCTGGGAGGGTGTGCACCTGGATCAGGCGTGGAAAAATCCGTGCCCTTTCCCACACCCTGCCCCATGTGTCTCTTCCACGTGGCTGTTCCTGAGTTGTATTCTTTTATGACAAACCAGTCATCTAGTAAGTGAACTGTTTGACCTGAGTTCTGTGTGTGAGCCATTCTAGCAAATGACATAGTGTCAGGATTGAGTTACATTGTAGGACACCCAGCGAGTGTCTACCAAGAATAGGAAATTGCTTGGTATGGAAAAGCCCACAAGTCTGGCGTCAGAAATGTACGGTGTAGCGGGAGCAGAGGTTTTATTTTACTTTTCAAGTAGATATTTTGCCCCTCACTTGGGAAACACAAGAGCCTCATTCCTCCCCTTCTGGTCAACTGAACTACCCTCAAAGTGCTCCCCAAGGAATGCCTCAGGCGTGGCAGGCCTCAGCAAAACCAGCGGAGGGGCTCAAGTTATCTGGGTGGACTGTCTACACTGTCAATACCCAGGTTTACTCTGATACTGTAGACCTGAATCAAGAACACAAGAAAGCTGGGCGTATTGGAGGGAAAGGCCATGTAAGCCGTGTGTTTTGGCCTCCTAATTCTCAAAGGCTAAATTCTAGGGTTCCTCTCACCTGTGGTCCTGCTCATTCCAGATGTTCAGAATGTTCCTCTTGTTAGTGTCTGAGGATCTCAGAGGAGGGTGTATAATTTGGAGTCAAGCTCTACAGAAACCCAGAAGAATCTGCGTCACGTGTGGTATCAGCCAAGAGCTGAGTGGACTCTATTTCCCAAGAGCTTGGACCACATGGGGTTGTGTCAGAGATAAACAGCCTTTTGAGTCTGAACAAATGCAGCCGGCTGGTTGGTTCTTGGGGGGCTTAGATATAAGTGGAGAGGTGCACTCTGTTGGGGCAGGGGGCTCTCTTTTGGTTTTAATTAACTGGCTATGAGTACATGACAGAGGTTTACAAGTTCACGGCTGGCATCACTCGATTTCTGCCCTCAGATATTGAATCTAAGCCAGCAGTTTGGTGGTTGCTCAATAGCATCCAGAATTGCTTAAATGTAAGTCAAGGGCACTGTCGGGCTTACATTTTGGTTCTTTTAACTTTTCAAGTATTTAAGACAAAAAGCGATTGTCTTTCCAGCCCTATTGGGCATCTTCTAAGGGGCCCTGGGCGACTATTTCCCGCCCAGCTCCCTGTCCTCACACAGAGAGGGATCCTAGGGCTGCCCTGGAAAGCCGTTCTCCTGCCTCTCTGCTCTGTGTGCTTTGGAGTTTTATCAAGAAGGGGCAGATGGGAAGCTCTGCTGGATGCTGGCGTTGTGAGACACACCCCCCTGACCTTTCTTCCAGCCAAATAGCTCTGATAAGTGGGCAGACCTTGAGCCTAGAGACCCACAGACACACTTGGACGATTCCTGCAGAAATCAGTGAGGCAGTCTCCTCCCAGGGGCTTGGCGCCTGGCTCGAGGCGAGGCTGCCGGCCCGGACGCTGACTGCCCAGTGCCACAGACATGGCCAACGGGACCAACGCCTCTGCCCCATACTACAGCTATGAATACTACCTGGACTATCTGGACCTCATTCCCGTGGACGAGAAGAAGCTGAAAGCCCACAAACGTAAGTCTGAACTAGGGAAGCCGGTCAGACAGAGGCTGGGGGCCGGGGCCCAAATGACTGGGCACTCCCGGCTTTCTCTGCATTCACTTATTAACTCCGGTAGACATCATGGGAAAGCAGGAATGTGGCCAGTTCACTCATAGATATAAATGAATGGGGCTGGGAGAGAAACTGTATTTGCTAACTTCTGTAATAAGCTTGGAATTAACCTGCTAAGTCACGAAGACACTTTGGAAGCAGAATTTTTATTTTTTACTTTATTTTATTTTATTTTGGAGATAGGGTCTAGCTCTGTTGCCTAGGCTGGAGTGCAGTGGCGTGACCATAGCTCACTGCAACCTCGACTGCCCTGGGTCAAGTAATCCTCCTACCTCAGCCTCCCAAGTAACTGAGACTATGGGCACATGCTACCACGCCTGGTTAATTTTGTGTATTTTTTTATAGAGACATGTTATATTGCCCAGGCTGGTCTGGAACTCCTGGCCTCAAGTGATCCCCCAATCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCGAGAATATTCTTTTAAAGATAGATTTCTTGTTTAATTTGTTTGGGGCTCCAATAAGCTGAGCGAGTTTCCTCAAATTAAAGATTTGCCTTTTCCACTGTCTGTATTTAGATTTGGGACAGTTATTCTCTCCATCCCTAAAATGCAGATTTAATGATTTTTACTAAAATGCCAACATACGTTTAATCTTCATAGTCTCAGCAAGGACAAACCAGCATGACTTCACTTCTTTTTGCTCATCTGCCCTCGGGTTCCTTATCTCTTGGCTAACGTGGCATGTGTGGACAATCTTCTCTGAGGAGTCCAGCTACTTGATCACAATGACAAATTAGATGCGGAAGTGAGCATGAGAAACAAAACAAAAACAAAGCCTGGGAAGATTGGGTCTCAGCCCTGGAAACCCATGCGCTACCTATCCCGTAGGAAGTCTTAGCTTCCTTGGGTTTTCACTCACTATAATCACATACTGTCTGTCAAACAGTAAATGCAGGGCTGGGTGCAATTGCTCACGCCTGTAATCCCACCAACTAGAGAGGATCACTTGAGGCCAGGAGTTCGAGGCCAGCCTGGGCAACACAGTGAGATCCCATCTCCACACACACACAGAAAAAGTAAACGCAGACCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGATTACGTCGTATGTCAGATGCGTCATGTGTCATGCATCCTATGTCAGGGGCGTCACGCGTCCTATGTCAGATGTCACACATCCTATGTCAGGGGCGTCACGCATCCTATGTCGGATGCATCACGCGTCCTGCGTCGGATGCGTCATGCGTCCTATGTCAGATGTTTCACACGTCTTATGTCAGGGGCGCCATGCGTCCTATGTCGGATGTGTCACGCATCCTATGTCACGTCATGCGTCGCATGTCAGATGCGTCACGTGTCCTATGTCAGATGTTTCACACGTCATGTCAGGGGCGTCACACGTCCTATGTCGGATATGTCACGCGTCGTATGTCAGATGCGTCACACGTCCTATGCCGGGGGCGTCACACGTCCTATGTCGGATGTGTCACGCGTCCTATGTCAGGGGCGTCATGCGTCCTATGTCGGGGCGTCATTCGTCCTATGTCAGTGTGTCGTGCGTCCTATGTCAGGGGCGTCATGCCTCCTATGTCGGATGTGTCATGCATCCTATGTCAGGGGCGTCATGTGTCCTATGTCGGATATGTCATGCGCCCTATGTCAGGGGCGTCATGCGTCCTATGTCGGGTGTCATGCATCCTATGTCGGGGCGTCATGTGTCTATGTGTCATGATATATCGTGTATGTCATATCAATGATATATCATGATTTCAAAGATGTATCATATTTCATATATCATGATATATGATATGATGATATATCGCATATGTATCAGATATATCAAATATATCATATGATATATATCATATCATATATCCATATATATCATGATATATCGTATATGATATCATATATCATATGATATATGATGG
|
ATGTGACCACTGTTCTATATGGAGCTGGTCATTGATGGAAGCATTATTAGTCAGCATTTGACTGTATTTGATCTTTGTCCCTGGTAGCACAGAACTCATAAAACTTGCAATATCTGAGTAATGGGGTAAGAGAAGCATCTTCTGTTAATCAGCATAAGCCACTTTCAACTCTACCTGAGTTTATGCCAATGAGGTGGGGGCTAGTTGTCAGAGGAACCAACCATATATTAGAGGGTTGCAATGTTCACTCCCACCCTGGAAAGGGGAGAGAGGCTGGGGATTGAGTTCATTCACTGATAGCCAGTGATTTCATCAATGGTGCCCACATAATGGAATATAATAATCATCTAGATGGCATAGCACATGATAAAACCCTACAAAAACCCTCCTCAAGGGGCTTCAGAGAACTTCCAAGTTGGTGAACACATTGAGGTGCTGGGAGGGTGTGCACCTGGATCAGGCGTGGAAAAATCCGTGCCCTTTCCCACACCCTGCCCCATGTGTCTCTTCCACGTGGCTGTTCCTGAGTTGTATTCTTTTATGACAAACCAGTCATCTAGTAAGTGAACTGTTTGACCTGAGTTCTGTGTGTGAGCCATTCTAGCAAATGACATAGTGTCAGGATTGAGTTACATTGTAGGACACCCAGCGAGTGTCTACCAAGAATAGGAAATTGCTTGGTATGGAAAAGCCCACAAGTCTGGCGTCAGAAATGTACGGTGTAGCGGGAGCAGAGGTTTTATTTTACTTTTCAAGTAGATATTTTGCCCCTCACTTGGGAAACACAAGAGCCTCATTCCTCCCCTTCTGGTCAACTGAACTACCCTCAAAGTGCTCCCCAAGGAATGCCTCAGGCGTGGCAGGCCTCAGCAAAACCAGCGGAGGGGCTCAAGTTATCTGGGTGGACTGTCTACACTGTCAATACCCAGGTTTACTCTGATACTGTAGACCTGAATCAAGAACACAAGAAAGCTGGGCGTATTGGAGGGAAAGGCCATGTAAGCCGTGTGTTTTGGCCTCCTAATTCTCAAAGGCTAAATTCTAGGGTTCCTCTCACCTGTGGTCCTGCTCATTCCAGATGTTCAGAATGTTCCTCTTGTTAGTGTCTGAGGATCTCAGAGGAGGGTGTATAATTTGGAGTCAAGCTCTACAGAAACCCAGAAGAATCTGCGTCACGTGTGGTATCAGCCAAGAGCTGAGTGGACTCTATTTCCCAAGAGCTTGGACCACATGGGGTTGTGTCAGAGATAAACAGCCTTTTGAGTCTGAACAAATGCAGCCGGCTGGTTGGTTCTTGGGGGGCTTAGATATAAGTGGAGAGGTGCACTCTGTTGGGGCAGGGGGCTCTCTTTTGGTTTTAATTAACTGGCTATGAGTACATGACAGAGGTTTACAAGTTCACGGCTGGCATCACTCGATTTCTGCCCTCAGATATTGAATCTAAGCCAGCAGTTTGGTGGTTGCTCAATAGCATCCAGAATTGCTTAAATGTAAGTCAAGGGCACTGTCGGGCTTACATTTTGGTTCTTTTAACTTTTCAAGTATTTAAGACAAAAAGCGATTGTCTTTCCAGCCCTATTGGGCATCTTCTAAGGGGCCCTGGGCGACTATTTCCCGCCCAGCTCCCTGTCCTCACACAGAGAGGGATCCTAGGGCTGCCCTGGAAAGCCGTTCTCCTGCCTCTCTGCTCTGTGTGCTTTGGAGTTTTATCAAGAAGGGGCAGATGGGAAGCTCTGCTGGATGCTGGCGTTGTGAGACACACCCCCCTGACCTTTCTTCCAGCCAAATAGCTCTGATAAGTGGGCAGACCTTGAGCCTAGAGACCCACAGACACACTTGGACGATTCCTGCAGAAATCAGTGAGGCAGTCTCCTCCCAGGGGCTTGGCGCCTGGCTCGAGGCGAGGCTGCCGGCCCGGACGCTGACTGCCCAGTGCCACAGACATGGCCAACGGGACCAACGCCTCTGCCCCATACTACAGCTATGAATACTACCTGGACTATCTGGACCTCATTCCCGTGGACGAGAAGAAGCTGAAAGCCCACAAACTAAGTCTGAACTAGGGAAGCCGGTCAGACAGAGGCTGGGGGCCGGGGCCCAAATGACTGGGCACTCCCGGCTTTCTCTGCATTCACTTATTAACTCCGGTAGACATCATGGGAAAGCAGGAATGTGGCCAGTTCACTCATAGATATAAATGAATGGGGCTGGGAGAGAAACTGTATTTGCTAACTTCTGTAATAAGCTTGGAATTAACCTGCTAAGTCACGAAGACACTTTGGAAGCAGAATTTTTATTTTTTACTTTATTTTATTTTATTTTGGAGATAGGGTCTAGCTCTGTTGCCTAGGCTGGAGTGCAGTGGCGTGACCATAGCTCACTGCAACCTCGACTGCCCTGGGTCAAGTAATCCTCCTACCTCAGCCTCCCAAGTAACTGAGACTATGGGCACATGCTACCACGCCTGGTTAATTTTGTGTATTTTTTTATAGAGACATGTTATATTGCCCAGGCTGGTCTGGAACTCCTGGCCTCAAGTGATCCCCCAATCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCGAGAATATTCTTTTAAAGATAGATTTCTTGTTTAATTTGTTTGGGGCTCCAATAAGCTGAGCGAGTTTCCTCAAATTAAAGATTTGCCTTTTCCACTGTCTGTATTTAGATTTGGGACAGTTATTCTCTCCATCCCTAAAATGCAGATTTAATGATTTTTACTAAAATGCCAACATACGTTTAATCTTCATAGTCTCAGCAAGGACAAACCAGCATGACTTCACTTCTTTTTGCTCATCTGCCCTCGGGTTCCTTATCTCTTGGCTAACGTGGCATGTGTGGACAATCTTCTCTGAGGAGTCCAGCTACTTGATCACAATGACAAATTAGATGCGGAAGTGAGCATGAGAAACAAAACAAAAACAAAGCCTGGGAAGATTGGGTCTCAGCCCTGGAAACCCATGCGCTACCTATCCCGTAGGAAGTCTTAGCTTCCTTGGGTTTTCACTCACTATAATCACATACTGTCTGTCAAACAGTAAATGCAGGGCTGGGTGCAATTGCTCACGCCTGTAATCCCACCAACTAGAGAGGATCACTTGAGGCCAGGAGTTCGAGGCCAGCCTGGGCAACACAGTGAGATCCCATCTCCACACACACACAGAAAAAGTAAACGCAGACCAGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGATTACGTCGTATGTCAGATGCGTCATGTGTCATGCATCCTATGTCAGGGGCGTCACGCGTCCTATGTCAGATGTCACACATCCTATGTCAGGGGCGTCACGCATCCTATGTCGGATGCATCACGCGTCCTGCGTCGGATGCGTCATGCGTCCTATGTCAGATGTTTCACACGTCTTATGTCAGGGGCGCCATGCGTCCTATGTCGGATGTGTCACGCATCCTATGTCACGTCATGCGTCGCATGTCAGATGCGTCACGTGTCCTATGTCAGATGTTTCACACGTCATGTCAGGGGCGTCACACGTCCTATGTCGGATATGTCACGCGTCGTATGTCAGATGCGTCACACGTCCTATGCCGGGGGCGTCACACGTCCTATGTCGGATGTGTCACGCGTCCTATGTCAGGGGCGTCATGCGTCCTATGTCGGGGCGTCATTCGTCCTATGTCAGTGTGTCGTGCGTCCTATGTCAGGGGCGTCATGCCTCCTATGTCGGATGTGTCATGCATCCTATGTCAGGGGCGTCATGTGTCCTATGTCGGATATGTCATGCGCCCTATGTCAGGGGCGTCATGCGTCCTATGTCGGGTGTCATGCATCCTATGTCGGGGCGTCATGTGTCTATGTGTCATGATATATCGTGTATGTCATATCAATGATATATCATGATTTCAAAGATGTATCATATTTCATATATCATGATATATGATATGATGATATATCGCATATGTATCAGATATATCAAATATATCATATGATATATATCATATCATATATCCATATATATCATGATATATCGTATATGATATCATATATCATATGATATATGATGGN
|
pathogenic
| 317,507 |
For chromosome 21, position 32631618, gene SYNJ1 (synaptojanin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
benign
|
TCCCTCAATGTACATCTTTAAAGGTTAAGTGTGGACATAGGAATTTAGGTGGACATATACAACTCTTTATATAAAAGGAATGTTAATGTAAGTCTTAATGGGTAAAGATGATTGTAACTGAAACTGACAAAGAAACAACTATTGCTCAAGGAGTTTTCTGATTGGTTTACTTAATGATATCAAAATACTACATTCTGTAAAAATTCTGTGTACTTCTTCAAAAAATTAATAAAAGCGGGATCAGTTGCATATTGGCAGTGCAGGAGACAAAATCCGCAGCTACTTTGAGGTATAGCCTCTAAAAACTTAAAGCAGCATCATAGATGTGTTATGTAGCCTCGTAAGAGGGGGGAGAACACACACTGGGTATATTCCCAATTCAAAGCACTCAGGGGACAGCTGCTTTCCCTGCTAAAAGCAAAGTTCCAGAGCAAAAGCAGCAAAAAGAAAATATGGGAGGGATATGGGCAACGTATACTCGAACGTACGCAGAGAAGAGAGTACGGTTAGCTCTAATATTTCTCATTGAACTTGGTGGTATGTGCCTTCCCTGCATATAAGGCCATAGTGCTTTTTTGGGAGCGCTAGAATATCCATCCACTTGACAGTGACCACAAAATAGGCTGTTTCCAGCTGCAAGAACCTCCTCCTGGAGAAAAGCGTATGAAGGTGCTGGAGTGAAAAGTAACAAGGTTGTGTGTATTTGAAGGGGTTGGGTGTGGAACGGTAGAAAATTCTGATTCTGTGGTGAGATTATTCTAGTTTTGAAAACAAAATTAATGAAAGGTCCAAATTACATTTGCAGCCATCTTTTTGGTAATGTGATATTGAAAAAGGGACTTTGTTGGAACTTTTAGGTATAATTTGGTCTGAGTTATAGCCTAGAAATTAAAGTATGAATTGTAAAAATATGTAAATGTATACAGAAGTACATGTGTTTGTATGTATTATATATGTACACATACCTATACTTTTTTCCTTTAAAGCAATGCCTTTCAAAACTCTGTTCACTGTAACCTTGGCAGCTCTTTGGTAAATACTCAAAGATACCAATTGTTAACAAGTATGAGAGGGCTGGTGGAAATGTCAGCTGAAAGTTGGGTGGGCTTTTTGAGATTCTTCAGAAGACTGACCGAAAAGTTTCTGAATAAGGACTGTTTTCTAAAGTATAAGTACTTTTTATGGCTACTACTGTCTCCTATTCATCCAAAGAGAAATACATCAAAACTCCAGTTAACAATGAGAAGGGTTTTTCCTTATTTCCAATATACACATAGTCCAACTCTGTACACATCAAATAGTGGTGTTTTGTGAAGATATCAGTGCACTTACAATGACTTATTGCACATAATGAAATACTAATGCCCAATTCTCTTAGCTCTATCCTGCCAAAAGCAAGTACCCACTGTTTTCTATTGCATGGCGTTATCTTTCTGTAAAGTCCAGTGTGGGTGAAGCCTTAGAGGCCAAGGTCGTGAAAGGATCTACTGGAGGGCTGGTGCCGGGCGGGAGCAGAGGGACAGGAGGTGGAGGAGGTCTTCTTGACGGCAACACACAGAAGGAGACATTTGTACCTTTATTCCAGTCATCATTCAATGTCAGGTTGGAGCCAGAAAATGAACTTGGCTGATTACCCAGTAAGTCTGAACAAGCTGACTTTGACTTCCCTTTCACACCAAAATCCTCTTCTTCCTCGAAGGTTACCCATCCTTTCGGGTTGCTAATTTTTAATGTAGACTGGCCCTGTAGATCAAAACTGTCCTTAAAGCCATCAAGTGAAGATGAAGCCCTGCTTTTGTTATGACCAAGAGGCTGCAGAGAAGGGAAAGGACTGATAGTAACGGGCTCTTCTTTGGAGAACCATGAAGTTGCCTCTGATTCTTCAGACTTGGCTCTAAATGGGTTTCCAGGAGCAGCAGTCCTGTCACTGAAAGGATTTGTCCTGGTCAAGCCAGTAATAAATGGGTTTGGAGAACTTCGCATATTTTCCTGGGATTGACTCCGAGCTGGAATTGGAGGCATTGTTGGCATGCAACTTACAGAACTCAAAACATTACTTTGCGTTGCAGAAGGCAACTGAATCAACCTCTTTGGGTCTGGGGTGGGAACAGGTGACGTTTGAACAGATAGCTGAGCCTTTGATACAGCAAGCAGATTAAATGACAGATCTTCAAATGGGTCAATCTTTAATGGTGATTCTCTTTTGCCATCAGAGATTCCATTTGTTTTTACCTGCAAAAGAAAGGGAGCACTGAAAAATCAGTTTATATTTACTCTTAATACCCCCTATTCTTCCTGTCTCAATTATTCTTCCCTTTTAGGGGCAAGCATGTAAATTTAGAAACTAAAAAGTAGCTTTGTGTAGTTTGTTACTCCGGTGGTTTAAATAACATGAAACACCTACAGTCTTTAAAAACTTCTTTCTAAATAAATCCTTTCTAATTAAATCCATTTTTAAATCCCTCAAAATCAAAGAGCTTATTTCATTCATGCAAGTTTTGAAATGGTAAGAAGGAGAATTGTACAGAATTAACAAATTTGTTCATGCCCAGTTCTATCACATTTCAGCATGAACTTAAGAAATCCATACTTATAACTTATGCTAAATCTATATAAATAAAATTCTAACACCCATCTATGATGATGATGTGGTTTCATTGTTCTTTTAAGTGTGTTTTCTAAAATTAATGTTACTATGGAAATTCAATTTTATAGATAAAATTAATTCTATTAGCATATTTTATTCCTAAGACGAAGACTCCATCTTTCTGTCTTCTACTTGGAAAAATAAATTTTGAGAGTTCTTTGCCCACCCCCTCTTTTTTTTTTTTTTGGAGACCAAGTCTTGTGCTGTCACCCAGGCTGGAGTGCAATGGCACGATTTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTTGTGCCTCAGCCTCTTGAGTAGCTGGGACTACAGGCGTGTGCCACCAGGTCTAGCTAATTTTTTGTATTTTAGTACAGATGGGGTTTCACTATGTTGCCCAGGCTGGTCACAAACTCCTGAGTGCAGGCAATCTGCCCACCTTAGCCTCCCAAAGTGTCAGGATTACAGGCGTGAGCCACCATGCCCGGCACAGCTGACTTTTAATGTAAGCTCTCCTTTGTTGAATAAACTGAGTAATGTGAGGCTGGGCGCGGTGGCTCAAGCCTATAATCCCTGCACTTTGTAAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATAATGAAACCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGAAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACCGCACTCCAGCTTGGGCAAGAGCAAAACTCCGCCTCAAAAAACAAAAAACAAAAACTGAGTAATGTGACAACTTTCCATAAAAAAATTGACCCTCCTGTCTTGTAAAAATATTCCAAAACAGATACACTATTAGTAACCAAATGCAACCATTGCTTAAAACCAGAGGAAAAAAAGTTCCATTTTCTATTTGGTTTATGAAGTCTACAACCACAATGATGTGCCTAGAGTGGTGCCTGGTCCCTTCTATGTGACAGAGTTGGCTGTGAACTGTTATCAGTAGGAAGAGTGCTTGGAATTCCTTCACTCCTGCCCTAAATCCCTTGGTCCCTACTCCATAAAGAAGGTGGTTGGAGTGGAGCACAGCCAAGGGACTGAGCAAAGACAAATGATCGGATGAAGGAAAAGAACTATGATTCTTGCCTCATAAGCAAATTAGCTTATCAGGCATACATTATTAATTTTGAAAAAAATGTATATAATTCTTAAAACTAGGGTAGATGACTTGGACACTTATGCTAACTTAAGAAAACTTCAGGGTTGGATACGATAGGGCAAAAAAAAATTCAGTTCAAGACTGGCAATGTAATAAAATGAGCACTGCCCAAAAGGAATTTGGATAGTTGTTAAAGCAACATAACTATACTTTCATGAAATATATTGGAAAAAAACAGCAGCAGTCTCAA
|
TCCCTCAATGTACATCTTTAAAGGTTAAGTGTGGACATAGGAATTTAGGTGGACATATACAACTCTTTATATAAAAGGAATGTTAATGTAAGTCTTAATGGGTAAAGATGATTGTAACTGAAACTGACAAAGAAACAACTATTGCTCAAGGAGTTTTCTGATTGGTTTACTTAATGATATCAAAATACTACATTCTGTAAAAATTCTGTGTACTTCTTCAAAAAATTAATAAAAGCGGGATCAGTTGCATATTGGCAGTGCAGGAGACAAAATCCGCAGCTACTTTGAGGTATAGCCTCTAAAAACTTAAAGCAGCATCATAGATGTGTTATGTAGCCTCGTAAGAGGGGGGAGAACACACACTGGGTATATTCCCAATTCAAAGCACTCAGGGGACAGCTGCTTTCCCTGCTAAAAGCAAAGTTCCAGAGCAAAAGCAGCAAAAAGAAAATATGGGAGGGATATGGGCAACGTATACTCGAACGTACGCAGAGAAGAGAGTACGGTTAGCTCTAATATTTCTCATTGAACTTGGTGGTATGTGCCTTCCCTGCATATAAGGCCATAGTGCTTTTTTGGGAGCGCTAGAATATCCATCCACTTGACAGTGACCACAAAATAGGCTGTTTCCAGCTGCAAGAACCTCCTCCTGGAGAAAAGCGTATGAAGGTGCTGGAGTGAAAAGTAACAAGGTTGTGTGTATTTGAAGGGGTTGGGTGTGGAACGGTAGAAAATTCTGATTCTGTGGTGAGATTATTCTAGTTTTGAAAACAAAATTAATGAAAGGTCCAAATTACATTTGCAGCCATCTTTTTGGTAATGTGATATTGAAAAAGGGACTTTGTTGGAACTTTTAGGTATAATTTGGTCTGAGTTATAGCCTAGAAATTAAAGTATGAATTGTAAAAATATGTAAATGTATACAGAAGTACATGTGTTTGTATGTATTATATATGTACACATACCTATACTTTTTTCCTTTAAAGCAATGCCTTTCAAAACTCTGTTCACTGTAACCTTGGCAGCTCTTTGGTAAATACTCAAAGATACCAATTGTTAACAAGTATGAGAGGGCTGGTGGAAATGTCAGCTGAAAGTTGGGTGGGCTTTTTGAGATTCTTCAGAAGACTGACCGAAAAGTTTCTGAATAAGGACTGTTTTCTAAAGTATAAGTACTTTTTATGGCTACTACTGTCTCCTATTCATCCAAAGAGAAATACATCAAAACTCCAGTTAACAATGAGAAGGGTTTTTCCTTATTTCCAATATACACATAGTCCAACTCTGTACACATCAAATAGTGGTGTTTTGTGAAGATATCAGTGCACTTACAATGACTTATTGCACATAATGAAATACTAATGCCCAATTCTCTTAGCTCTATCCTGCCAAAAGCAAGTACCCACTGTTTTCTATTGCATGGCGTTATCTTTCTGTAAAGTCCAGTGTGGGTGAAGCCTTAGAGGCCAAGGTCGTGAAAGGATCTACTGGAGGGCTGGTGCCGGGCGGGAGCAGAGGGACAGGAGGTGGAGGAGGTCTTCTTGACGGCAACACACAGAAGGAGACATTTGTACCTTTATTCCAGTCATCATTCAATGTCAGGTTGGAGCCAGAAAATGAACTTGGCTGATTACCCAGTAAGTCTGAACAAGCTGACTTTGACTTCCCTTTCACACCAAAATCCTCTTCTTCCTCGAAGGTTACCCATCCTTTCGGGTTGCTAATTTTTAATGTAGACTGGCCCTGTAGATCAAAACTGTCCTTAAAGCCATCAAGTGAAGATGAAGCCCTGCTTTTGTTATGACCAAGAGGCTGCAGAGAAGGGAAAGGACTGATAGTAACGGGCTCTTCTTTGGAGAACCATGAAGTTGCCTCTGATTCTTCAGACTTGGCTCTAAATGGGTTTCCAGGAGCAGCAGTCCTGTCACTGAAAGGATTTGTCCTGGTCAAGCCAGTAATAAATGGGTTTGGAGAACTTCGCATATTTTCCTGGGATTGACTCCGAGCTGGAATTGGAGGCATTGTTGGCATGCAACTTACAGAACTCAAAGTATTAACATTACTTTGCGTTGCAGAAGGCAACTGAATCAACCTCTTTGGGTCTGGGGTGGGAACAGGTGACGTTTGAACAGATAGCTGAGCCTTTGATACAGCAAGCAGATTAAATGACAGATCTTCAAATGGGTCAATCTTTAATGGTGATTCTCTTTTGCCATCAGAGATTCCATTTGTTTTTACCTGCAAAAGAAAGGGAGCACTGAAAAATCAGTTTATATTTACTCTTAATACCCCCTATTCTTCCTGTCTCAATTATTCTTCCCTTTTAGGGGCAAGCATGTAAATTTAGAAACTAAAAAGTAGCTTTGTGTAGTTTGTTACTCCGGTGGTTTAAATAACATGAAACACCTACAGTCTTTAAAAACTTCTTTCTAAATAAATCCTTTCTAATTAAATCCATTTTTAAATCCCTCAAAATCAAAGAGCTTATTTCATTCATGCAAGTTTTGAAATGGTAAGAAGGAGAATTGTACAGAATTAACAAATTTGTTCATGCCCAGTTCTATCACATTTCAGCATGAACTTAAGAAATCCATACTTATAACTTATGCTAAATCTATATAAATAAAATTCTAACACCCATCTATGATGATGATGTGGTTTCATTGTTCTTTTAAGTGTGTTTTCTAAAATTAATGTTACTATGGAAATTCAATTTTATAGATAAAATTAATTCTATTAGCATATTTTATTCCTAAGACGAAGACTCCATCTTTCTGTCTTCTACTTGGAAAAATAAATTTTGAGAGTTCTTTGCCCACCCCCTCTTTTTTTTTTTTTTGGAGACCAAGTCTTGTGCTGTCACCCAGGCTGGAGTGCAATGGCACGATTTTGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTTGTGCCTCAGCCTCTTGAGTAGCTGGGACTACAGGCGTGTGCCACCAGGTCTAGCTAATTTTTTGTATTTTAGTACAGATGGGGTTTCACTATGTTGCCCAGGCTGGTCACAAACTCCTGAGTGCAGGCAATCTGCCCACCTTAGCCTCCCAAAGTGTCAGGATTACAGGCGTGAGCCACCATGCCCGGCACAGCTGACTTTTAATGTAAGCTCTCCTTTGTTGAATAAACTGAGTAATGTGAGGCTGGGCGCGGTGGCTCAAGCCTATAATCCCTGCACTTTGTAAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATAATGAAACCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGCGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGAAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACCGCACTCCAGCTTGGGCAAGAGCAAAACTCCGCCTCAAAAAACAAAAAACAAAAACTGAGTAATGTGACAACTTTCCATAAAAAAATTGACCCTCCTGTCTTGTAAAAATATTCCAAAACAGATACACTATTAGTAACCAAATGCAACCATTGCTTAAAACCAGAGGAAAAAAAGTTCCATTTTCTATTTGGTTTATGAAGTCTACAACCACAATGATGTGCCTAGAGTGGTGCCTGGTCCCTTCTATGTGACAGAGTTGGCTGTGAACTGTTATCAGTAGGAAGAGTGCTTGGAATTCCTTCACTCCTGCCCTAAATCCCTTGGTCCCTACTCCATAAAGAAGGTGGTTGGAGTGGAGCACAGCCAAGGGACTGAGCAAAGACAAATGATCGGATGAAGGAAAAGAACTATGATTCTTGCCTCATAAGCAAATTAGCTTATCAGGCATACATTATTAATTTTGAAAAAAATGTATATAATTCTTAAAACTAGGGTAGATGACTTGGACACTTATGCTAACTTAAGAAAACTTCAGGGTTGGATACGATAGGGCAAAAAAAAATTCAGTTCAAGACTGGCAATGTAATAAAATGAGCACTGCCCAAAAGGAATTTGGATAGTTGTTAAAGCAACATAACTATACTTTCATGAAATATATTGGAAAAAAACAGCAGCAG
|
benign
| 317,553 |
A genetic alteration at chromosome 21, position 32642150, in gene SYNJ1 (synaptojanin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
benign
|
TTGCCCAAAGCCACACAGAAAGCAGAGCCAGGATCCAAACTCAGGTCTGACTGGCTGCAGGGCTAGGGTTCTTAACCATGTGCAATGCTGTCTTTATGGGGAAAACTGGGATGATTTTAAAATATACAAGGAGATAGAGAGATACATACCTGAGCAACTAGGAGACTTTGGGGAAAAAACACCCTGAGATTTGTTTTTTTTTTGGTTTTTTTTTGAGATGGAGTCTCACTCTGTGGCCAGACGGGAGTGCAGTGGCACAATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCTGGCACTTTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACGCGGCTAATTTTTTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACATCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACCACAGGCGTGAGCCACCGTACCTGGTCAAGATTTGTTTTTTAAGAGATGGGGTCTTGCTATGTTGCTCCAGCTAGACTTGAACTCCTGGGTTCAAGCGATCTTTCCAATGTAGTCCCCTGCGTAGCTGGGACTACAGGTGCATGCCACTGCCACCCAGCCATATATATTGCTTTTAAACACAGAAGTACAACTTTTGAATGACTAACTCAATATTCCGAATTAAATACACTGAAAGACTCATCAGTGAAAAATATTTTTTCTATTTTCATATGTTTGCTGAAGGATCTAAGCTAACAATATTTATTTTAAGCAAAATATGAACTTTTAAACTCACAAAAATCCTGACTTTCTTTTCCTATACTTATGGTATTCAACAGAATCAAGAAAGTTCTTGTGCCAAGTGTGGTCATGGGATCAGTGAATGGCAAATTTCCCTTTTTTTGAAAAAAGGAGGATAAATATTTGAAGAGTAATATTACATATAAAAAAGAACCTTCAGATTGTTAAGTGGACAGCTACAACAGAAAAGACAAAAAGCTTCTATCTTCATAGGAAGTGGTTTCCTCAGTTCTCACAATCTTAATAATCTTAATTTCTAGGTACAGTAATAGCTCTCAGTTTCCTACTCTTCAGATATGGGCCTCTCAGTAGTCCCAGCTCCTACTGGACTAGCCTAAGTCACTGATTACTGGTTTCTATTTGCTCTTTCTCTCTGTTCTTGATTACCTGTTATAGTCCAGAGAAAGTTTTCAAATAATAAAAAACCTATGTGTATAAGAGAACATATAAACATACAGAAAAGACACATTCATCAGGTAGGGAAAAATCCTGTAACAACATCTACTCTCCTATTTCTAATACCTTTACGGAATATGATGAACCTGATCAAGAAAAAAACCAAAAAGAGAAAAAAACCTTTAGAACCAGTTTTACTATACTGAATTTATCATTTTTTTTTCTGAAATGTAATTAAAATCCTTTTTAATGAAGGATTACTTTATATCTTCATTAATTACTCAGGTAAAATGATAAAAAGCTGCCCAAATCCATCATTTCCTCATATACTGAGACTCTTAAGATATTTATTTAGTGACCATAATTGTTTTAAGTGTATCACTTTTATCCAAATAATGAAGTTTGTTATTTTTGAAGAGTATGTTAAAATAATGTTAGAGTCGGAAGATCATCAAGTGCAATTCCCTCATTTTAGAGATGAGGAAATTGAGGCCTTGAAGGGTCACATGATTTCTCCAAGGTAACAAAACTGACTAGTAGTAAACAGGACTTAGAACCGAGACCCCTTGGCCCCAGGCGAGGTTTTACCTACCGGTCTGGCTGTACTGTATCCAGCAGGTCCTGGGCCTGCAAGTCCTGCTTGAGGTGAAGGCTGACTGCGTCCTGGAACAAAGACATCATATCATATATTTAAGTTTAAAAAAATAAACAAGAAACCATGTACTTATATTCCAAGTGTCTATTTCACGGTCCAGTTTTAAGGGTGAATAGCTACATTCAAGTGTTTTTACCTATATTATCTTTCCTTGTTGTTCCAGGGCTTTTGGGTGCTTTGAAGCAAGAAGGGAAAAAAAAATTAGTTGTAAGTTAACAATTAAGCAATATTGCATAACATCAGCTTGCTGTTCTGCTTCATTACCAGCAGAAATGGGGGCATGAGATGGTAACAAAACAAAGCACTTTGCTTTGTATAATGATGAAGGGTATTATCAGTCCTGAATGAAATACTCCAAAAGAGAGAAAAATTACAATATTTAGATAGACCTTTATGGGAGACAAGTGGTGACTTTAGTTTGATATCTCACTCATGGGACCACTTTTAGGGTGGCATTCCCCATAGAACTCTCTCGTGAACCTTGAAAACATACAGTCAGCTGTGTGAATGGTCACAAGATGCGGCACTGCTGCCCCTTAGAGTCTGGCAGACAAGTGGCTTCTGAGCAACAGACAGGACTGCATTTGTCAAATTACACAAGAGGCTCCTAGTAGCAATACTTTAGGGCTTCACGCTGTAGATGTCACTGTGGATAAGGTTATCTTATGATGAGATCTTTCGGATTTCTATAACAAAATCCCATCATTAAGACAGAAGACAGGCATATGTTATTACCAAATATCTGCCTTATGGAAGACAGTGTTAAAAATATGTTCAAACTCATTAGAAAGGTAGCTGAAGGATAAAATGAAATAAATTACTCTTGGAGCCAAAAGGAGTAGGAGTGACTATCAAGGGCAGCATCTTAAATAAACTCTCCTTTTTGTAAAGAAATTCAAGTACAATTGTTATAAGAAATACATCAGCCTTTTAATAACTAAAATCATAACAAATGGCCTCTAGTCTTAAAGGTCTTTTAAACAAATCTGGCTCAGTGCTAATCTATAAAATAGCTATGTTATCTGAAATCAACTACAAAATACTATATTCTTGGATCTGAATTAATAGGGTTTAATTATAATCATTAATTTTTAAAACTTCAGATTAGTAAAGTACATTTCTAAATATTTTACTTATTCTGAAAAGAATTTTGAAGACATTCTTAAACAGTAATTTCACAACCTGGGCATATATAAACTATATATGAAACAGAGTACAAACAACATTAAGGATCTCAGGGAAATTAAATGGATATCCATTAGAAACTATAGGTGACATAGAATGAAGAGAGGAAAAAATACAAGGTATACATAAGGAGGGGAAAGAGAAGTTTACAGCTGGACCAAGAAAAGATTTAGTATGCCTGCAAACACTGCGGGGTGGGGAGGTGGGGCGCTGACACTGAGAAATAAAATGAGAGAACCACTTCTATAATGCAAGAGTCTTGTTACCTTCCATCTCTCTCCTAGCTACCCCAGGACTGGGAGGGGCTCCAATACCTTTTTAGAGAAAGAACAGAAACTATATATTGTTCAGGGCCCACAGCACAGAATGAAAGGCAGGCACACAAGACAATTTCCATAGTAAACTCACTTTTGCAAAAAGGCTCTTTTATTGCTTTAAATTTCTTCAAAGATATCAATACAAACCAAAGTGACTTTAGATGCTTGGCCCAAATCTGAATCCTCCCTTTACTCAAACAGAAGAGTAGAAACAGGATGACAGTTTTCTTTTTATGTATGCAATTACTACCAGTAGGGAATTTAAAAAATATGTTTAATGAAGACCTTTGCTTTAAAAATCATCTTACTCCTTATATCCAGAGCAAGTAAAAACTCTGATATTTGATAGTCAAAAGGAAAGAAATCATAAATTTCTATGAGACTACGTAAGTCTTTTGAAGTTAGTTTTTGATGCATTAATTTTAAAAACTCTAATGTACTATAATGACGTAAAGGAATTATTGTTTATAGGATGAAAAAACATGTTGCAAACACTACTTACAAAAGAATTATGAAGGGGAGCAATTTTTAAAATTAAGACAGATTTCACTGTAATCCACTGGCTTGCCTAACTTTTGACAGATTCATTTTAAATTTATTTTCTACAGGATGTTTTCCTAATTAAAGCAGAAGATAAGCAAAAATTATCATGGAAATTTAAATAAAAGCAGGAGCTTGAAAAGGGAAAAATTAAATGTTTTCTATAAAAGCAGGAGCTTGAAAAGGGAAAAATTAAA
|
TTGCCCAAAGCCACACAGAAAGCAGAGCCAGGATCCAAACTCAGGTCTGACTGGCTGCAGGGCTAGGGTTCTTAACCATGTGCAATGCTGTCTTTATGGGGAAAACTGGGATGATTTTAAAATATACAAGGAGATAGAGAGATACATACCTGAGCAACTAGGAGACTTTGGGGAAAAAACACCCTGAGATTTGTTTTTTTTTTGGTTTTTTTTTGAGATGGAGTCTCACTCTGTGGCCAGACGGGAGTGCAGTGGCACAATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCTGGCACTTTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACGCGGCTAATTTTTTGTATTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACATCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGACCACAGGCGTGAGCCACCGTACCTGGTCAAGATTTGTTTTTTAAGAGATGGGGTCTTGCTATGTTGCTCCAGCTAGACTTGAACTCCTGGGTTCAAGCGATCTTTCCAATGTAGTCCCCTGCGTAGCTGGGACTACAGGTGCATGCCACTGCCACCCAGCCATATATATTGCTTTTAAACACAGAAGTACAACTTTTGAATGACTAACTCAATATTCCGAATTAAATACACTGAAAGACTCATCAGTGAAAAATATTTTTTCTATTTTCATATGTTTGCTGAAGGATCTAAGCTAACAATATTTATTTTAAGCAAAATATGAACTTTTAAACTCACAAAAATCCTGACTTTCTTTTCCTATACTTATGGTATTCAACAGAATCAAGAAAGTTCTTGTGCCAAGTGTGGTCATGGGATCAGTGAATGGCAAATTTCCCTTTTTTTGAAAAAAGGAGGATAAATATTTGAAGAGTAATATTACATATAAAAAAGAACCTTCAGATTGTTAAGTGGACAGCTACAACAGAAAAGACAAAAAGCTTCTATCTTCATAGGAAGTGGTTTCCTCAGTTCTCACAATCTTAATAATCTTAATTTCTAGGTACAGTAATAGCTCTCAGTTTCCTACTCTTCAGATATGGGCCTCTCAGTAGTCCCAGCTCCTACTGGACTAGCCTAAGTCACTGATTACTGGTTTCTATTTGCTCTTTCTCTCTGTTCTTGATTACCTGTTATAGTCCAGAGAAAGTTTTCAAATAATAAAAAACCTATGTGTATAAGAGAACATATAAACATACAGAAAAGACACATTCATCAGGTAGGGAAAAATCCTGTAACAACATCTACTCTCCTATTTCTAATACCTTTACGGAATATGATGAACCTGATCAAGAAAAAAACCAAAAAGAGAAAAAAACCTTTAGAACCAGTTTTACTATACTGAATTTATCATTTTTTTTTCTGAAATGTAATTAAAATCCTTTTTAATGAAGGATTACTTTATATCTTCATTAATTACTCAGGTAAAATGATAAAAAGCTGCCCAAATCCATCATTTCCTCATATACTGAGACTCTTAAGATATTTATTTAGTGACCATAATTGTTTTAAGTGTATCACTTTTATCCAAATAATGAAGTTTGTTATTTTTGAAGAGTATGTTAAAATAATGTTAGAGTCGGAAGATCATCAAGTGCAATTCCCTCATTTTAGAGATGAGGAAATTGAGGCCTTGAAGGGTCACATGATTTCTCCAAGGTAACAAAACTGACTAGTAGTAAACAGGACTTAGAACCGAGACCCCTTGGCCCCAGGCGAGGTTTTACCTACCGGTCTGGCTGTACTGTATCCAGCAGGTCCTGGGCCTGCAAGTCCTGCTTGAGGTGAAGGCTGACTGCGTCCTGGAACAAAGACATCATATCATATATTTAAGTTTAAAAAAATAAACAAGAAACCATGTACTTATATTCCAAGTGTCTATTTCACGGTCCAGTTTTAAGGGTGAATAGCTACATTCAAGTGTTTTTACCTATATTATCTTTCCTTGTTGTTCCAGGGCTTTTGGGTGCTTTGAAGCAAGAAGGGAAAAAAAATTAGTTGTAAGTTAACAATTAAGCAATATTGCATAACATCAGCTTGCTGTTCTGCTTCATTACCAGCAGAAATGGGGGCATGAGATGGTAACAAAACAAAGCACTTTGCTTTGTATAATGATGAAGGGTATTATCAGTCCTGAATGAAATACTCCAAAAGAGAGAAAAATTACAATATTTAGATAGACCTTTATGGGAGACAAGTGGTGACTTTAGTTTGATATCTCACTCATGGGACCACTTTTAGGGTGGCATTCCCCATAGAACTCTCTCGTGAACCTTGAAAACATACAGTCAGCTGTGTGAATGGTCACAAGATGCGGCACTGCTGCCCCTTAGAGTCTGGCAGACAAGTGGCTTCTGAGCAACAGACAGGACTGCATTTGTCAAATTACACAAGAGGCTCCTAGTAGCAATACTTTAGGGCTTCACGCTGTAGATGTCACTGTGGATAAGGTTATCTTATGATGAGATCTTTCGGATTTCTATAACAAAATCCCATCATTAAGACAGAAGACAGGCATATGTTATTACCAAATATCTGCCTTATGGAAGACAGTGTTAAAAATATGTTCAAACTCATTAGAAAGGTAGCTGAAGGATAAAATGAAATAAATTACTCTTGGAGCCAAAAGGAGTAGGAGTGACTATCAAGGGCAGCATCTTAAATAAACTCTCCTTTTTGTAAAGAAATTCAAGTACAATTGTTATAAGAAATACATCAGCCTTTTAATAACTAAAATCATAACAAATGGCCTCTAGTCTTAAAGGTCTTTTAAACAAATCTGGCTCAGTGCTAATCTATAAAATAGCTATGTTATCTGAAATCAACTACAAAATACTATATTCTTGGATCTGAATTAATAGGGTTTAATTATAATCATTAATTTTTAAAACTTCAGATTAGTAAAGTACATTTCTAAATATTTTACTTATTCTGAAAAGAATTTTGAAGACATTCTTAAACAGTAATTTCACAACCTGGGCATATATAAACTATATATGAAACAGAGTACAAACAACATTAAGGATCTCAGGGAAATTAAATGGATATCCATTAGAAACTATAGGTGACATAGAATGAAGAGAGGAAAAAATACAAGGTATACATAAGGAGGGGAAAGAGAAGTTTACAGCTGGACCAAGAAAAGATTTAGTATGCCTGCAAACACTGCGGGGTGGGGAGGTGGGGCGCTGACACTGAGAAATAAAATGAGAGAACCACTTCTATAATGCAAGAGTCTTGTTACCTTCCATCTCTCTCCTAGCTACCCCAGGACTGGGAGGGGCTCCAATACCTTTTTAGAGAAAGAACAGAAACTATATATTGTTCAGGGCCCACAGCACAGAATGAAAGGCAGGCACACAAGACAATTTCCATAGTAAACTCACTTTTGCAAAAAGGCTCTTTTATTGCTTTAAATTTCTTCAAAGATATCAATACAAACCAAAGTGACTTTAGATGCTTGGCCCAAATCTGAATCCTCCCTTTACTCAAACAGAAGAGTAGAAACAGGATGACAGTTTTCTTTTTATGTATGCAATTACTACCAGTAGGGAATTTAAAAAATATGTTTAATGAAGACCTTTGCTTTAAAAATCATCTTACTCCTTATATCCAGAGCAAGTAAAAACTCTGATATTTGATAGTCAAAAGGAAAGAAATCATAAATTTCTATGAGACTACGTAAGTCTTTTGAAGTTAGTTTTTGATGCATTAATTTTAAAAACTCTAATGTACTATAATGACGTAAAGGAATTATTGTTTATAGGATGAAAAAACATGTTGCAAACACTACTTACAAAAGAATTATGAAGGGGAGCAATTTTTAAAATTAAGACAGATTTCACTGTAATCCACTGGCTTGCCTAACTTTTGACAGATTCATTTTAAATTTATTTTCTACAGGATGTTTTCCTAATTAAAGCAGAAGATAAGCAAAAATTATCATGGAAATTTAAATAAAAGCAGGAGCTTGAAAAGGGAAAAATTAAATGTTTTCTATAAAAGCAGGAGCTTGAAAAGGGAAAAATTAAAN
|
benign
| 317,568 |
Evaluate this variant at chromosome 21, position 32666463, gene SYNJ1 (synaptojanin 1): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_53', 'Early-onset_Parkinson_disease_20']
|
TGCCCTGGGCCTGGTAGTTAAAAATCAACCCTTGACCTAACCGCTTGTGCTATCTATAGATTTCAGACATTGTATGGAAAAGCATCGTGAAAATCCCTGTCCTGTTCCATTCTGATTACCAGTGCATGCAGCCCCCAGTCCCATACCCCCTGCTTGCTCAATCGATCACGACCCTCTCACATGGACTCCCTTAGAGCTGTAAGCCCTTAAAAGGGACAGGAATTGCTCACTCGGGGAGCTCGGTTTTTGGAGACGTGAGTCCGCTGCTGCTCCCAGCTGAATAAAGCCCTTTCCTTCTACAACTTGGTGTCTGAAGGGTTCTTGTCTGCAGCTCATCCTGCTACACTTTAAGGAAAGATAATTCTATTATCTGTTTACCTACAGATGCATATTTAAGTACAAAAAGACCCCAAGAAAATTTTAAAACATCTTGATTTAAAAAGGCATGTTTCACGACCCAAAATCTTAATGCAAGTATTTTCTCAAGTATAGATATACCTGTCCAGCATTTTTCTGATTGATAAGTTGATCTCCTGCTATAAGAGAATCCCAATTTTGCTGTCTTATGAGCTCTTTAACTTCTTCGTTAGGGAGATCGATTCGATAGTTGAAATCACCACACCAAAATACATAGTCATGGGAAAATAGCATCCTTCCCTGAAAGCAATGAGATAGAATTTTAAATTCAAAACAATCAATGTTCAAAAATGTTTTACAACTATTTCTTTGCCTGAGATATGCTTGTCTCCTCCCATGTCCTGTTTCTTTGACCCAACAGTAATAACACATGTGAAACGAAAATAAATCTCAGGACCCCAAAATCACTAAGCCCAGAGAAAAATCAAGCCAGGAACTATGACAGGTAAACCTGCCTCCCATTTTACTCCTAAATAAGATAGCTCCAAAGATAAGAAGCTACATAACTCCCTCACAATTTGCCCACAGGAAATTCCTTGTGGACAAAGTATAGACTGAACTCAAAGTCATCCCTCTGAGACTCACCTGAGACAAATGCACATCTGACTGCTTCCTCTGCCCTATTGTTTATGCAAAAATGCAGATTCACTGAGCCACACTAAATTGTGTATTCAGTGGAAGGCTGATCTAGGACTTAAAAGAATGCAACCTTTTGCGTCTTATCTACTTCTAACCTGGAAGCCCCCACTTCGAGTTGTCCTGCCTTACCAGACCAAACCAGTGTACATCATACACATACTGACTGATGTCTCAGGTCTCCCTAAAATGTATAAAAGCAAACTGTACCCCCGACCACCTTGGGCACATGTCATTCTGAATTCTGGAGGCTATATCATGGCCACATCCTTAACCTTGGCAAAATAAACTTTCTAAATTGACTGAGCCCTGTCTCAGATATTTTGGGTTAATACTCATGAAATATCTATTTAGGTGAATATTCTTAATGTTTCTAGGAACTATCTTAAATTTCCAAAAACATTGATGTAGAATTTGGGGCAAATTAAAATATATTTCAAAGCTTTATCTTCAAGAACAAGCAGCAAGAGCTTACCATAGGAAAACTCAATTTTCGTGCTATTTCTATAAAATCTTCATTTCTTTCTTTGACTTGTGACTGCCCTGCAGCAAAGTGGCTACAGACGAAGCAAAGGCTGGTTGTATGGAAGAGCATTCGGATTGCAACTGCTCCCTTATTTCCAGTTGCACCTCCCATTCCAGTCTTCACAGTATCAACTGCAACATCCCTTTGAAACAAAGAATTCTAAATCGCAGATTTGAAATTTCAAGAGTTCCATGTGCATAGGAAATGAGGAATATACATAATCATTTAAGTACACATGGTATGGTACTTTGAGGGCAAGCCTTTGAAATAGTACAGTGAAGCTATTGGTGAGTCTTTAATCAAAACCCCCAAAACCCCATTTTAAAACAAGAACTATGGATAGTTTTTGTTTGAAGAACTGAAACAATAAACATTCTAGGCTTTTTTCTTGTTATTTAATGGTAGGAAGTAGCCTTAGAGGAGTGTTCTGTTTACTGACCTGATAAAAGGAGCATGCTGTGGTCTGATAAAAACAAACAAACAGACGCCCACCAACTGTTCAGAAGCCAGCAGCACATACTTGTTGTCTCTGGAGATTGTCTTCTGAAGTTCTACAGCCCAGAGCTTCTGATTTGTTGTGCTACAAGAAAATATTAAAAAGAGAATTTTTTAAAAAGGTATTGACAATAGCCTATTTTATGACAATTGTCAATTATACCTTTATCTACCCAAATATCCTAAGACTCTGAAGGAAGCTTAGGCTGTTTTTGTTTCCTTTAAAAAGGAAAATCTACAATTTAGCCAAAAGAAAACCACATTTCAAAATCTAATCTATTACTTCTTTACAAAGAAAATATAAAGACATTAAATGGCTACTCACTGGGTGAGTAAATTCAAACTTATACATTTTACTTTTTCCTTAAGTATTCATTAAGATCACAGAGAAGTATAGAAGTATCTGTGGGAGATTGGTTTCAGGACCTCCCATGATACCAAAATCCAAGGATACTCAAGTCCCTTACATAAAATGGAGTAATACTTGCATATAACCCATGTAAATCTCTCGTATACTTTAAATCATCTCTAGATTACCTATAATACCTAATACAATGTAATTAGTTGTTATATTGTAATGTTTAGGGAATAACGATACAAAAAAGTCTGCAAGTAAAAAAGACAAAAAAAAAAAGGCTACACATGTTCAGTATAGACACAATTTTAAAAAATATTTAATATTTTGATGAGTTGAATCCAAAGATGTCAGACCCATGGATAAGGACAGCTAACTGTGCACATATATGTGACTATATGTGCTTCCAAATACATTTCCCCACTTTTCAAAATTTTTCTAAATTATAACTAATGTCTTTTTAAAAAATCTTGCTATGGGAAATTAGAAGACATAATCATTAAACAAACCACCATATACCCATTTCAAAATTACCAACATTTTGCCAATCTATTTTTTCCATCCTCTTCACCTTATCACATTTAAACATTAATAATTCCTTAATATCATCTAATAGTTTATACTTAAAGTTCCCCATTTATTAAAAAAAAATCTTCTAACAGTTGGTTTGTTTCTTTAAAAAGGGTCCAAACAAGGTCTACATATTGCATTTGCTTGTCATGTCTCCTAATCTCTCTTTTTTTCTTGAGATGGGGTCTCACTCTGTCACCCAGGGCTGGAGTGCTGTGGCAGGATGTCGGTTCACTGCAACCTCTGCCTGAGCTCAAGCGATCCTCCCACCTCAGCCCCGCAAGTAGCTGAAACTCATTCCTCATCTTCTCAATGAACCTTATCTTGATCATTCATTTGAGACTTCCAACACTTCCCTGTGTCCCTATAGTTGATCTCCTTTTCCTCTCTTTTCCATTGCACTTTTCTAACATGCTGTATAATTTACTTATTGTTGTTATTGTTCACTGTCCGTTTCTTCCCACTAGAATACGAAGTCCATGAAGATAGGGATTTTTGTCTGTTTGATTCATTGGAGGTACTTAAGAGTGGTACTCAGTAGGTACTGCTTAAATAAATGAATAAATATTCACTACTTTATTAAAGAAGAATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATGTGTGTATATATATATACATATACATATTTGAGACAGAGTCTTGCTCTGTCACTCAGGCCGGAGTGCGGTGGTGCGATCTCCACTCACTGCAACCTCCGTCTCCCAGGTTCAAGCGATTCTCCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGGGGCACCACGTCCAGCTGATTTTTTTGTATTTTTAGTAGAGATAGGGTTTCACTATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGCATTGGGATTACAGGCATGAGCCACCACACCCAGCCTAAAGAATTTGATTAAACCTAGCCTAAAGAAGAATTTGATTAAACTCTATTTAGACAAACAATTGATCCATGCACTTAGTACTAGGAACCCTCAGAGTTATAGTCTAGTTTAGGACCTGAATATATTTTTCAGGAAACATAAT
|
TGCCCTGGGCCTGGTAGTTAAAAATCAACCCTTGACCTAACCGCTTGTGCTATCTATAGATTTCAGACATTGTATGGAAAAGCATCGTGAAAATCCCTGTCCTGTTCCATTCTGATTACCAGTGCATGCAGCCCCCAGTCCCATACCCCCTGCTTGCTCAATCGATCACGACCCTCTCACATGGACTCCCTTAGAGCTGTAAGCCCTTAAAAGGGACAGGAATTGCTCACTCGGGGAGCTCGGTTTTTGGAGACGTGAGTCCGCTGCTGCTCCCAGCTGAATAAAGCCCTTTCCTTCTACAACTTGGTGTCTGAAGGGTTCTTGTCTGCAGCTCATCCTGCTACACTTTAAGGAAAGATAATTCTATTATCTGTTTACCTACAGATGCATATTTAAGTACAAAAAGACCCCAAGAAAATTTTAAAACATCTTGATTTAAAAAGGCATGTTTCACGACCCAAAATCTTAATGCAAGTATTTTCTCAAGTATAGATATACCTGTCCAGCATTTTTCTGATTGATAAGTTGATCTCCTGCTATAAGAGAATCCCAATTTTGCTGTCTTATGAGCTCTTTAACTTCTTCGTTAGGGAGATCGATTCGATAGTTGAAATCACCACACCAAAATACATAGTCATGGGAAAATAGCATCCTTCCCTGAAAGCAATGAGATAGAATTTTAAATTCAAAACAATCAATGTTCAAAAATGTTTTACAACTATTTCTTTGCCTGAGATATGCTTGTCTCCTCCCATGTCCTGTTTCTTTGACCCAACAGTAATAACACATGTGAAACGAAAATAAATCTCAGGACCCCAAAATCACTAAGCCCAGAGAAAAATCAAGCCAGGAACTATGACAGGTAAACCTGCCTCCCATTTTACTCCTAAATAAGATAGCTCCAAAGATAAGAAGCTACATAACTCCCTCACAATTTGCCCACAGGAAATTCCTTGTGGACAAAGTATAGACTGAACTCAAAGTCATCCCTCTGAGACTCACCTGAGACAAATGCACATCTGACTGCTTCCTCTGCCCTATTGTTTATGCAAAAATGCAGATTCACTGAGCCACACTAAATTGTGTATTCAGTGGAAGGCTGATCTAGGACTTAAAAGAATGCAACCTTTTGCGTCTTATCTACTTCTAACCTGGAAGCCCCCACTTCGAGTTGTCCTGCCTTACCAGACCAAACCAGTGTACATCATACACATACTGACTGATGTCTCAGGTCTCCCTAAAATGTATAAAAGCAAACTGTACCCCCGACCACCTTGGGCACATGTCATTCTGAATTCTGGAGGCTATATCATGGCCACATCCTTAACCTTGGCAAAATAAACTTTCTAAATTGACTGAGCCCTGTCTCAGATATTTTGGGTTAATACTCATGAAATATCTATTTAGGTGAATATTCTTAATGTTTCTAGGAACTATCTTAAATTTCCAAAAACATTGATGTAGAATTTGGGGCAAATTAAAATATATTTCAAAGCTTTATCTTCAAGAACAAGCAGCAAGAGCTTACCATAGGAAAACTCAATTTTCGTGCTATTTCTATAAAATCTTCATTTCTTTCTTTGACTTGTGACTGCCCTGCAGCAAAGTGGCTACAGACGAAGCAAAGGCTGGTTGTATGGAAGAGCATTCGGATTGCAACTGCTCCCTTATTTCCAGTTGCACCTCCCATTCCAGTCTTCACAGTATCAACTGCAACATCCCTTTGAAACAAAGAATTCTAAATCGCAGATTTGAAATTTCAAGAGTTCCATGTGCATAGGAAATGAGGAATATACATAATCATTTAAGTACACATGGTATGGTACTTTGAGGGCAAGCCTTTGAAATAGTACAGTGAAGCTATTGGTGAGTCTTTAATCAAAACCCCCAAAACCCCATTTTAAAACAAGAACTATGGATAGTTTTTGTTTGAAGAACTGAAACAATAAACATTCTAGGCTTTTTTCTTGTTATTTAATGGTAGGAAGTAGCCTTAGAGGAGTGTTCTGTTTACTGACCTGATAAAAGGAGCATGCTGTGGTCTGATAAAAACAAACAGACGCCCACCAACTGTTCAGAAGCCAGCAGCACATACTTGTTGTCTCTGGAGATTGTCTTCTGAAGTTCTACAGCCCAGAGCTTCTGATTTGTTGTGCTACAAGAAAATATTAAAAAGAGAATTTTTTAAAAAGGTATTGACAATAGCCTATTTTATGACAATTGTCAATTATACCTTTATCTACCCAAATATCCTAAGACTCTGAAGGAAGCTTAGGCTGTTTTTGTTTCCTTTAAAAAGGAAAATCTACAATTTAGCCAAAAGAAAACCACATTTCAAAATCTAATCTATTACTTCTTTACAAAGAAAATATAAAGACATTAAATGGCTACTCACTGGGTGAGTAAATTCAAACTTATACATTTTACTTTTTCCTTAAGTATTCATTAAGATCACAGAGAAGTATAGAAGTATCTGTGGGAGATTGGTTTCAGGACCTCCCATGATACCAAAATCCAAGGATACTCAAGTCCCTTACATAAAATGGAGTAATACTTGCATATAACCCATGTAAATCTCTCGTATACTTTAAATCATCTCTAGATTACCTATAATACCTAATACAATGTAATTAGTTGTTATATTGTAATGTTTAGGGAATAACGATACAAAAAAGTCTGCAAGTAAAAAAGACAAAAAAAAAAAGGCTACACATGTTCAGTATAGACACAATTTTAAAAAATATTTAATATTTTGATGAGTTGAATCCAAAGATGTCAGACCCATGGATAAGGACAGCTAACTGTGCACATATATGTGACTATATGTGCTTCCAAATACATTTCCCCACTTTTCAAAATTTTTCTAAATTATAACTAATGTCTTTTTAAAAAATCTTGCTATGGGAAATTAGAAGACATAATCATTAAACAAACCACCATATACCCATTTCAAAATTACCAACATTTTGCCAATCTATTTTTTCCATCCTCTTCACCTTATCACATTTAAACATTAATAATTCCTTAATATCATCTAATAGTTTATACTTAAAGTTCCCCATTTATTAAAAAAAAATCTTCTAACAGTTGGTTTGTTTCTTTAAAAAGGGTCCAAACAAGGTCTACATATTGCATTTGCTTGTCATGTCTCCTAATCTCTCTTTTTTTCTTGAGATGGGGTCTCACTCTGTCACCCAGGGCTGGAGTGCTGTGGCAGGATGTCGGTTCACTGCAACCTCTGCCTGAGCTCAAGCGATCCTCCCACCTCAGCCCCGCAAGTAGCTGAAACTCATTCCTCATCTTCTCAATGAACCTTATCTTGATCATTCATTTGAGACTTCCAACACTTCCCTGTGTCCCTATAGTTGATCTCCTTTTCCTCTCTTTTCCATTGCACTTTTCTAACATGCTGTATAATTTACTTATTGTTGTTATTGTTCACTGTCCGTTTCTTCCCACTAGAATACGAAGTCCATGAAGATAGGGATTTTTGTCTGTTTGATTCATTGGAGGTACTTAAGAGTGGTACTCAGTAGGTACTGCTTAAATAAATGAATAAATATTCACTACTTTATTAAAGAAGAATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATGTGTGTATATATATATACATATACATATTTGAGACAGAGTCTTGCTCTGTCACTCAGGCCGGAGTGCGGTGGTGCGATCTCCACTCACTGCAACCTCCGTCTCCCAGGTTCAAGCGATTCTCCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGGGGCACCACGTCCAGCTGATTTTTTTGTATTTTTAGTAGAGATAGGGTTTCACTATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGCATTGGGATTACAGGCATGAGCCACCACACCCAGCCTAAAGAATTTGATTAAACCTAGCCTAAAGAAGAATTTGATTAAACTCTATTTAGACAAACAATTGATCCATGCACTTAGTACTAGGAACCCTCAGAGTTATAGTCTAGTTTAGGACCTGAATATATTTTTCAGGAAACATAATNNNN
|
pathogenic
| 317,585 |
Determine whether the variant at chromosome 21, position 33246729, in gene IFNAR2 is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Immunodeficiency_45', 'Primary_immunodeficiency_with_post-measles-mumps-rubella_vaccine_viral_infection']
|
CATCGGAGAAGCCCTTCTGTCCAGACTCTCCTTACACAGTGCACAGTCCCTGTTTCCCATGCTTGCCTGCCCTGACAATATGTTGCTCGTTAATTGACTTACTAATTTATTTCCCATGTCCTGTAGACTTCCTGTTTTCAAGACACCAGGGCTCTCTGGAGAGGTTATCTGCCAGAGGTGTGGGTTCTAGATCCCAAGAAATGACTGAACAGTGGCCAGAATACAACTGTGGGTTCCAAATTTCAATGCCCTTTTTCTTCTTCTCTTTAGATTACACAGATGAATCTTGCACTTTCAAGATATCATTGCGAAATTTCCGGTCCATCTTATCATGGGAATTAAAAAACCACTCCATTGTACCAACTCACTATACATTGCTGTATACAATCATGAGGTTGGTTTGATATTTCATTTTCTCTTGGTAAACATATTATTGTTCTGTTATATGGGGAGAGGTGATCTTTTCTCTCTCTCTGTCTCTCCCTCTCCCTTTTCCTATCTACCTCTCCTTCTCTCTGCGTTTCTTATTCAGAGCCTTAAAAAGCCAAAGACAAAACACCATCACACATCCATTTTTAATTCAGTTGAATACTTTAATAATCCAAATCTATTTTGACAAAGCTTGTATGTGTCATCAAAGCCAATTTCTACAGGTCAGAACCTCACATACAAAATAATTCTTGTGTATGGGTTAGGCAATGATTTCTCTAATTCAGTCAGTCTGAATGTTTAAAAGTCCTGTTATCTGAGGACAGGAATCCAAAGGTCTATTGACCATATTGATGGTTTATGTTCACTTTTCTTTACTCTGGTGGGACACCAGAAAGCTGCCTGGCCTAGTCTGGGACAGGCCTGGGTCCATAGTCTGGTTTGGTCACTAACCAGCTTGACACTTGGCACGGACCTCAGCCCCTAAGCTAATGCCTCTGCTGAGGGGTTGCTGCAAGGATTCGTGACATAATGGATGGAGTCCTGCTTGTCTTTTGTCTTCCCACACCTACCAATCGCCCTTAGAAGTCATTGCTTTGATCCAGCAGCCCCTTGGAGTGTCCTTTTGATGGTTATTTATTTGGCCTAGAGCTGCTGCTGCTACTGCTTATTGACTGAGCCAGTGGGAGACCTCTTGTGAGTTTCTCTTCGGTGCCTGCTAAAAAGTTTTTCTCTGCATTGAGTGGTCACATGTATCATCCAACTAACTGAAGCTTGGTAGATGAGATATCTGCATTGTCCCTGAAATAGCCCAGGTCTGACTTAGGACTGGATCATCTAGTCTTAGCCAGAGAGGGAGGGGGTCTCAGGGAAGGCATTCATAATTGTCCCATAGAGGAAGGGAGATCTGAGGCTTCCACCATGAGGGCCCAAGTTTCATTCATTCATTTACTCATCCGGCAATTTTTTTTTTTTTTTTGAGACGGAGTCTCACTGTGTCACCAAGGCTGGAGTGCACTGGTACGATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCACCCGGCTCCTCCGGCAAGTTTTACTGAGCACCTACTACATGCCAGGGGGTCCAACTGTGAACCAAAGTCCCTGCCCTCCTGGAGCAGACATTATGTAAATGGAGACATCAGTAAACAAAGGTATAATGTGACAGGTGTGGGTAAATGCTACAATCAAGAAAAGAGAGGGATTGAAAGTGCAGGGGTGGGGAGGGCATAAGATGTTCCATTTTCAATAAGATGGTTGGGGAAGATCACTTAATACAATGATATTTGGGCAGAGCCCTAAAGGAAACAATGAAGTAAGGCGCCCAAAAATAGACTCTCATTACATCAATGCTAACAATTTCCTTTTTCCATTTTTTTCTTTCCAAAGTAAACCAGAAGATTTGAAGGTGGTTAAGAACTGTGCAAATACCACAAGATCATTTTGTGACCTCACAGATGAGTGGAGAAGCACACACGAGGCCTATGTCACCGTCCTAGAAGGATTCAGCGGGAACACAACGTTGTTCAGTTGCTCACACAATTTCTGGCTGGCCATAGACAGTGAGTTTTATCTCTGTTTCTCCACTTCGTCCCCATCATCAAGATCTTTATTATTTGCTATTCCATGAAATAGGAGGTCTACAAAGGTGTTTTAGACCTGGGGCTGGGCTCACCTCTTGGCCCTGCCACTTCCTAGCTCTGTAACCGTGGACTGCTTTGCTTCTCTGAGCCTTGGTTTTCTAAATCTGAAAAGTGGAATGATAATTTGTACTTTGCAGATTTGCCCCGTGCCTGTATAAGGCAGTAGGAACTGCTGTTTTCGGTTTTGCAGCCTGACAGGAAGTCTGGAGCCAGGTTCAGGTGGGCTGGATCTAGCGCTCTCATCTCTCTGGCCCAGGATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTGTCACCTAGGCTAGAGTGCAGTGGTGCGATCTTCGCTCACTGCAACCTCCACCTTCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCCAGAGTAGCTGGGATTACAAGCACACACCACCATACCTGGCTCATTTTTTGTACTTTTAGTAGAAATGTTTCACCATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTGCCAAGGTGCTGAGGTTACAAGCATGAGCCACCACACCTGGCCCCAGTGTTTTCTTAATACAGCAACTCCACCCCCTCATTATAACCCAATGTTCTTTTGTGTGTGAACACCAAGTGTGCATGCACCTAGTACCCAAAGCTCAGAGGAGAAGACTAGACCCCAAGAACAGGCCTACCCCTTCTTTCTTTCCCTGTGACTCAAGTCAGTTCCCTAACACACTGTGTTAACAGCCCCAGCTGTGTTACTTTTTCAATTTCCCACTTTACAACGAGTTTCCAAGAGAACCATCTGGTCTCAGCTTCCTGTTGTAGGCTATGCGGGTGTGCACGTGCTCATACATGATTAGCAAAGTGGTAAGGATAACTGAATCCCCCTGTGGCAAACAATTCGGATACGACATTTGCTGGATTTGTGTGCATGTTTACGTATGTGTATAAACAGACATCTGTGTGTACACACAGAAAAGAAAGAAAATCAGAATTTATAGTTCATGGTATTTGGGTTGTTAAAGAATGCATATTAAAGTAACAGTGAGATATGTTTCATGGCTCAAATGATAAATATGAAAAATACATAAATATCCAGGTTTAGAGGGAATACAAAGAGTGTGCTTTGGCATGGTCCATCTGAAGTAATTGGCAGCATGTATTAAAAACCTTAACATGTGCTTACTCTAATCCAGAATTCTTTAGTAATTTGTCCCAAAGAAATTATTAAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCTAGACCAGTGTATCACTTGAGCTCAGGAGTTCAAGACCAGCCCGAGCAACATGGGGAAACCCTATGTCTACATTAAAAAAGAAAGAGAGAAAGAAAGAAAGTTAGGGGGGAGGGAGGGAGGGGGGGAGAGAGAGAGAGAGAAAGAGAAAAGAAAGAAAGAAATTATTAAGGACAAATGCAAAAATTTAGTTCCAAGAATATCCCATGATACATTAAGTCTTTAATAAAAATCAGAGACAATTTAAATGTTCAAAACAGTGAATCAGTTAAATCATGATACAGTCACTTAGTGGAATAGCATTAGCAATGAAAAATTATGATGTAAATCAGGACTTGGCAGATTTTCTATACAGGGCCAGAGAAGAACCACTTTAGACTTTGTGGGCCACATATGGTCTCTGTGACATATTCCTGTCTGTTTTTGTTTTTTGCACAGTGTCTTTTGAACCACCAGAGTTTGAGATTGTTGGTTTTACCAACCACATTAATGTGATGGTGAAATTT
|
CATCGGAGAAGCCCTTCTGTCCAGACTCTCCTTACACAGTGCACAGTCCCTGTTTCCCATGCTTGCCTGCCCTGACAATATGTTGCTCGTTAATTGACTTACTAATTTATTTCCCATGTCCTGTAGACTTCCTGTTTTCAAGACACCAGGGCTCTCTGGAGAGGTTATCTGCCAGAGGTGTGGGTTCTAGATCCCAAGAAATGACTGAACAGTGGCCAGAATACAACTGTGGGTTCCAAATTTCAATGCCCTTTTTCTTCTTCTCTTTAGATTACACAGATGAATCTTGCACTTTCAAGATATCATTGCGAAATTTCCGGTCCATCTTATCATGGGAATTAAAAAACCACTCCATTGTACCAACTCACTATACATTGCTGTATACAATCATGAGGTTGGTTTGATATTTCATTTTCTCTTGGTAAACATATTATTGTTCTGTTATATGGGGAGAGGTGATCTTTTCTCTCTCTCTGTCTCTCCCTCTCCCTTTTCCTATCTACCTCTCCTTCTCTCTGCGTTTCTTATTCAGAGCCTTAAAAAGCCAAAGACAAAACACCATCACACATCCATTTTTAATTCAGTTGAATACTTTAATAATCCAAATCTATTTTGACAAAGCTTGTATGTGTCATCAAAGCCAATTTCTACAGGTCAGAACCTCACATACAAAATAATTCTTGTGTATGGGTTAGGCAATGATTTCTCTAATTCAGTCAGTCTGAATGTTTAAAAGTCCTGTTATCTGAGGACAGGAATCCAAAGGTCTATTGACCATATTGATGGTTTATGTTCACTTTTCTTTACTCTGGTGGGACACCAGAAAGCTGCCTGGCCTAGTCTGGGACAGGCCTGGGTCCATAGTCTGGTTTGGTCACTAACCAGCTTGACACTTGGCACGGACCTCAGCCCCTAAGCTAATGCCTCTGCTGAGGGGTTGCTGCAAGGATTCGTGACATAATGGATGGAGTCCTGCTTGTCTTTTGTCTTCCCACACCTACCAATCGCCCTTAGAAGTCATTGCTTTGATCCAGCAGCCCCTTGGAGTGTCCTTTTGATGGTTATTTATTTGGCCTAGAGCTGCTGCTGCTACTGCTTATTGACTGAGCCAGTGGGAGACCTCTTGTGAGTTTCTCTTCGGTGCCTGCTAAAAAGTTTTTCTCTGCATTGAGTGGTCACATGTATCATCCAACTAACTGAAGCTTGGTAGATGAGATATCTGCATTGTCCCTGAAATAGCCCAGGTCTGACTTAGGACTGGATCATCTAGTCTTAGCCAGAGAGGGAGGGGGTCTCAGGGAAGGCATTCATAATTGTCCCATAGAGGAAGGGAGATCTGAGGCTTCCACCATGAGGGCCCAAGTTTCATTCATTCATTTACTCATCCGGCAATTTTTTTTTTTTTTTTGAGACGGAGTCTCACTGTGTCACCAAGGCTGGAGTGCACTGGTACGATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCACCCGGCTCCTCCGGCAAGTTTTACTGAGCACCTACTACATGCCAGGGGGTCCAACTGTGAACCAAAGTCCCTGCCCTCCTGGAGCAGACATTATGTAAATGGAGACATCAGTAAACAAAGGTATAATGTGACAGGTGTGGGTAAATGCTACAATCAAGAAAAGAGAGGGATTGAAAGTGCAGGGGTGGGGAGGGCATAAGATGTTCCATTTTCAATAAGATGGTTGGGGAAGATCACTTAATACAATGATATTTGGGCAGAGCCCTAAAGGAAACAATGAAGTAAGGCGCCCAAAAATAGACTCTCATTACATCAATGCTAACAATTTCCTTTTTCCATTTTTTTCTTTCCAAAGTAAACCAGAAGATTGAAGGTGGTTAAGAACTGTGCAAATACCACAAGATCATTTTGTGACCTCACAGATGAGTGGAGAAGCACACACGAGGCCTATGTCACCGTCCTAGAAGGATTCAGCGGGAACACAACGTTGTTCAGTTGCTCACACAATTTCTGGCTGGCCATAGACAGTGAGTTTTATCTCTGTTTCTCCACTTCGTCCCCATCATCAAGATCTTTATTATTTGCTATTCCATGAAATAGGAGGTCTACAAAGGTGTTTTAGACCTGGGGCTGGGCTCACCTCTTGGCCCTGCCACTTCCTAGCTCTGTAACCGTGGACTGCTTTGCTTCTCTGAGCCTTGGTTTTCTAAATCTGAAAAGTGGAATGATAATTTGTACTTTGCAGATTTGCCCCGTGCCTGTATAAGGCAGTAGGAACTGCTGTTTTCGGTTTTGCAGCCTGACAGGAAGTCTGGAGCCAGGTTCAGGTGGGCTGGATCTAGCGCTCTCATCTCTCTGGCCCAGGATTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTGTCACCTAGGCTAGAGTGCAGTGGTGCGATCTTCGCTCACTGCAACCTCCACCTTCCAGGTTCAAGCGATTCTCCCACCTCAGCCTCCAGAGTAGCTGGGATTACAAGCACACACCACCATACCTGGCTCATTTTTTGTACTTTTAGTAGAAATGTTTCACCATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTGCCAAGGTGCTGAGGTTACAAGCATGAGCCACCACACCTGGCCCCAGTGTTTTCTTAATACAGCAACTCCACCCCCTCATTATAACCCAATGTTCTTTTGTGTGTGAACACCAAGTGTGCATGCACCTAGTACCCAAAGCTCAGAGGAGAAGACTAGACCCCAAGAACAGGCCTACCCCTTCTTTCTTTCCCTGTGACTCAAGTCAGTTCCCTAACACACTGTGTTAACAGCCCCAGCTGTGTTACTTTTTCAATTTCCCACTTTACAACGAGTTTCCAAGAGAACCATCTGGTCTCAGCTTCCTGTTGTAGGCTATGCGGGTGTGCACGTGCTCATACATGATTAGCAAAGTGGTAAGGATAACTGAATCCCCCTGTGGCAAACAATTCGGATACGACATTTGCTGGATTTGTGTGCATGTTTACGTATGTGTATAAACAGACATCTGTGTGTACACACAGAAAAGAAAGAAAATCAGAATTTATAGTTCATGGTATTTGGGTTGTTAAAGAATGCATATTAAAGTAACAGTGAGATATGTTTCATGGCTCAAATGATAAATATGAAAAATACATAAATATCCAGGTTTAGAGGGAATACAAAGAGTGTGCTTTGGCATGGTCCATCTGAAGTAATTGGCAGCATGTATTAAAAACCTTAACATGTGCTTACTCTAATCCAGAATTCTTTAGTAATTTGTCCCAAAGAAATTATTAAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCTAGACCAGTGTATCACTTGAGCTCAGGAGTTCAAGACCAGCCCGAGCAACATGGGGAAACCCTATGTCTACATTAAAAAAGAAAGAGAGAAAGAAAGAAAGTTAGGGGGGAGGGAGGGAGGGGGGGAGAGAGAGAGAGAGAAAGAGAAAAGAAAGAAAGAAATTATTAAGGACAAATGCAAAAATTTAGTTCCAAGAATATCCCATGATACATTAAGTCTTTAATAAAAATCAGAGACAATTTAAATGTTCAAAACAGTGAATCAGTTAAATCATGATACAGTCACTTAGTGGAATAGCATTAGCAATGAAAAATTATGATGTAAATCAGGACTTGGCAGATTTTCTATACAGGGCCAGAGAAGAACCACTTTAGACTTTGTGGGCCACATATGGTCTCTGTGACATATTCCTGTCTGTTTTTGTTTTTTGCACAGTGTCTTTTGAACCACCAGAGTTTGAGATTGTTGGTTTTACCAACCACATTAATGTGATGGTGAAATTTN
|
pathogenic
| 317,619 |
Considering the genetic mutation at chromosome 21, position 33252675, impacting IFNAR2: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Immunodeficiency_45', 'Primary_immunodeficiency_with_post-measles-mumps-rubella_vaccine_viral_infection']
|
TCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCAGCACACCCAGATAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCAGGCGATCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTACAAGCATGAGCCACCATGCCCAGCTCATAATTCTGCATATATTTTGCATGTGGAGCAAGACTAACTTCCCCATTAACTATGGAAGATGATGAATGAAGCAGGTGAGGGTTAGATAGGGTTAGAGGGTTTGGGACATGTTAAATTCCAGGTGTCCGTAAGGAATCTAGGAGGAGACGTGGGGAAGGAGCTGGATGTGCCAGTCTGTTGTCCAGGAGAGAACCCGCAGCTAGAGAGAGAGCCTGGGAGTCACTGGCTTCTTGGTGCATGTTGAATGCCCTAAGACCAGATGAGGTCACCTGGGAATAGACACTCAGAGAGAAAACAAGACATCCAGTGACAGAGCCCAGGAACATTCCAAAATTTGGAGATCTGGCAAATGAGGAAGAAACAGCAAAATCGACTGAGAAAGAGCAACCAGCATGGTAGGGAGAGAAGCAGGTGAGAGTGATGTCCCGGTAGCTGAGAGAAGAACTTTCCAGAAGGTGAAAGTGGTCTACTGAGTCCAGTGCTGTAAATGGGACAATTGAAGAGGACTGACTATTGGATTTAGCAACATTGTGTCCTTGATAAAAGTAGTTTTAATAGAGTTAGGGGCAAAGAGCTGGTTGGAGTAGATTCAAGAAAGAGTGGGAGGAGAAAAATTGGAGACAGTGAAGAGAGCTCATTCTTCCAAGGAATTTTTCCAAACAGGGAAGGAGATTGTGTGCTGGCCACTGGAGGGGAAGCTTTTAGTTTGTTGGGTCGTAAGTTTGTTTGTTTACTAACTCCTCCTCCCAAACAGAAATTTACAGAAAAACATCATTACTGAAGGCTGTATTTGAGCTGCTAGGAATCCTCATTTATTAAACTGCTAGTAAGAATGTATTTTAAAAACTGTAAAACATGATACAAAAGTTATTATTCATGAAAGAGCCTTCATATCATCTTTTAAATTCTGAAGTGAAATGCAACTACAGGAAAGAAGAGGCAAGGTGTTTAAAGGGAGATGGCTGGGCACAGTGGCTTACGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCGCTTGCGGTCAGGAGTTCAAGACCAGCGTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCATCTGTAATCCCAGCTACTCAGGAGACTGAGGCAAGAGAATCTCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCATCCATCTATCTATCTATCTATCTATCTATCTATCTATCTATATCTGTCTATTGATAAAGGGAGAAGATGAGAAACTAGACATCAGTCAGTTTTGTCACAGACAAGCTCTGTGACCTTGGAGAAGTTACTTAGCCACACTGAGCTACAGTTTTCTCATCCGTTGAATGGAGGTAATGCCTATTTTGCAGACTGTTTTGAAAGTCAAAAGGGTTAATGTTTATGAAGGCACTTTCTCAAGTGTAAAGTAGACACACACTGTCCATGAGAGAAGATAATCTTGTAAAAATGACGTCACAGAGACTTTTATTCCTCTTTGAAGACTTTTATCTCATTTGTAAAATGAAGGCGCTAGACTAGATGTCATGGTTATAAAATATGTGTGTGTGCAGGTGTATATTAAAAGTGCATGTAGGTGTAGTTTTCTGATAAATTACTTGCTCCAGATGACTTATAAATCCTTTTTCTTACCAAGCCTGTGATAAATCTAACCCTGTTTGAGATTTGAAGACAAATCCCAAAAGAGATTAAGGCCTACCTCTAAATGAAATTCTCAGTCTTACTGATTTTTTGCTTATGTTTACAGCATAAACCCGAAATAAAAGGAAACATGAGTGGAAATTTCACCTATATCATTGACAAGTTAATTCCAAACACGAACTACTGTGTATCTGTTTATTTAGAGCACAGTGATGAGCAAGCAGTAATAAAGTCTCCCTTAAAATGCACCCTCCTTCCACCTGGCCAGGAATCAGGTATGTTCATTTTTTTAAATTCATGTTTTGAGTATTCATGCTTTTACTCTGAGGGCAAGCCTATTTAAAGAAAAGAATCTGAAAAGAATTCATGGAGCACTAAAGGTCTTTCTTCCAGTAAACACCTCACAGAGATGTTTTCTGTTGGTTCGTGTGTATGATCTGGTAGAGTCACTTTTATATTGTCATACCAAAAAACAATCAGATACTACTCGATGAGATCAGAAATCTTGAAATGGAAACGCTTTTGTTTCAGGGAGTCAGGATTAAATTCAGCACTGTGTGCCCTTTGTGTGGCCATTGCTGAAGCCAAATGCCAGAAGAGGTGGAGTTGCTTGAGACAGTGGTATACAGTGGCATTAAGGGGTGAAAAGGTGGAAGCAGCGAGGTTGGGTGCAGTTCATGGATGTGATCTGGCATCAGCTCTCGCTCATAGATGAAAGGAACCCTTGCCAGGGTGTACGAGAAAATCACTGATGAAGGCTGAACACCTTTCTGTTACACAGACATCAGAACAATAAACAGTGTGATCCCAAACCTTCTTCCCCTTTGGAGTGAGAACAATCAAGCCTCGGAACTCCCTGCTGATTGTTTTCTCAGGAAGTAGCCAAGTTTCCACCTGTTTTACCAAAAGTGAGAAGCTATGCAAGTCTCCCTCAAAGAAGCCCTTCTAAATGTCCCAACCGCAGTGTTAGGGGAAAGAGGTCCCAATCCATACCCCAAGAGAGGGTTCTTGGATCTTGCGCAAGAAAGAATTCAGAGCGAGTCCGTAAAGTGAAAGCAAGTTTATTAGGAAAGTAAAGGAGTAAAGAATGACTACTCTATAGACAGAGCAGCCCCGAGGGCTGCTGGTTGCCCATTTTTATGATTATTTCTTGATGATATGCTAAACAAGGGGTGGATTATTCATGCCTCCCCTTTTTAGACCATGTAGGGTAACTTCCTCACATTGCCATGGCATTTGTAAACTCATGGTGCTGGTGAGAGTGTGGCAGTGAGGACGACCATCTTGGTTTTGGTGGGTTTTGGCCGGCTTTACTGCCATCTGTTTTATCAGCAAGGTCTTTACCAACGGTATCTTGTGCCAACCCCCTATCTCATCCTGTAAGTTACAATGCCTAGACTGTCTGGGAATGCAGCCCAGTAGGTCCCAGCCCCATTTTACCCAGCTCAAGATGGAGTTGCTCTGGCTCAAATGCCTCTGACACCAATGGAAGTATCTTTAATGTTCTGATTTACCAGAATAAAAATAAGGTAGGATCTATAAAGAAATTACTTTAGTTGTAAACCAAAATAAAATTCTAAGCCCCCCAACCAACTGAATGGATCCCTCCTCTCAGCCAAGGGCCGAGTAAAGTAAAGTAAACCTGAAACACTAGTTCAGGCCATGATGGGAGTGAGTGGTCCAGACGTGCCTCACGGGACCTTCCTACCTTTGGAATTCAGGCACAGCTGGCCAGCACTAATATTAAAACAGAAACCTTAAGACTGACAAAAAGATGCTTTGTAGCACTAATACCAGCATGATGGATAGCAGGCCCTAAAAGAAACCAAAGTGTTTTACCCCAAAATACATTTCTTTGACATATTTTGAAATGGCCCTGCAAAGCTGTCTCTTGCAGGGAAAATCTGCTTTCTATAAAGAACCCCCTTCCCAGTCCAGGTGTTCTTCCTGATCCAAGAGAGAATTCACTAAGAGTCTGGCACTTTTTTAAGTCCAGTAAGAAACATTTACAGTCTGTTCTCTCTGAAGCCTGCTACCAGAGGCTTCATCTGCGTAATAGGAACCGTGGCCTCCGCAACCCTTTGTCTTAACCCAGATGCTTCCTTTTATTAATTCCAAGTTTTTAATCAGAAAATCTTTGAATCTACCTATGACCTGGAAGCCCCCC
|
TCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCCGCCAGCACACCCAGATAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTGGCCAGGCTGGTGTTGAACTCCTGACCTCAGGCGATCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTACAAGCATGAGCCACCATGCCCAGCTCATAATTCTGCATATATTTTGCATGTGGAGCAAGACTAACTTCCCCATTAACTATGGAAGATGATGAATGAAGCAGGTGAGGGTTAGATAGGGTTAGAGGGTTTGGGACATGTTAAATTCCAGGTGTCCGTAAGGAATCTAGGAGGAGACGTGGGGAAGGAGCTGGATGTGCCAGTCTGTTGTCCAGGAGAGAACCCGCAGCTAGAGAGAGAGCCTGGGAGTCACTGGCTTCTTGGTGCATGTTGAATGCCCTAAGACCAGATGAGGTCACCTGGGAATAGACACTCAGAGAGAAAACAAGACATCCAGTGACAGAGCCCAGGAACATTCCAAAATTTGGAGATCTGGCAAATGAGGAAGAAACAGCAAAATCGACTGAGAAAGAGCAACCAGCATGGTAGGGAGAGAAGCAGGTGAGAGTGATGTCCCGGTAGCTGAGAGAAGAACTTTCCAGAAGGTGAAAGTGGTCTACTGAGTCCAGTGCTGTAAATGGGACAATTGAAGAGGACTGACTATTGGATTTAGCAACATTGTGTCCTTGATAAAAGTAGTTTTAATAGAGTTAGGGGCAAAGAGCTGGTTGGAGTAGATTCAAGAAAGAGTGGGAGGAGAAAAATTGGAGACAGTGAAGAGAGCTCATTCTTCCAAGGAATTTTTCCAAACAGGGAAGGAGATTGTGTGCTGGCCACTGGAGGGGAAGCTTTTAGTTTGTTGGGTCGTAAGTTTGTTTGTTTACTAACTCCTCCTCCCAAACAGAAATTTACAGAAAAACATCATTACTGAAGGCTGTATTTGAGCTGCTAGGAATCCTCATTTATTAAACTGCTAGTAAGAATGTATTTTAAAAACTGTAAAACATGATACAAAAGTTATTATTCATGAAAGAGCCTTCATATCATCTTTTAAATTCTGAAGTGAAATGCAACTACAGGAAAGAAGAGGCAAGGTGTTTAAAGGGAGATGGCTGGGCACAGTGGCTTACGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCGCTTGCGGTCAGGAGTTCAAGACCAGCGTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCATCTGTAATCCCAGCTACTCAGGAGACTGAGGCAAGAGAATCTCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCATCCATCTATCTATCTATCTATCTATCTATCTATCTATCTATATCTGTCTATTGATAAAGGGAGAAGATGAGAAACTAGACATCAGTCAGTTTTGTCACAGACAAGCTCTGTGACCTTGGAGAAGTTACTTAGCCACACTGAGCTACAGTTTTCTCATCCGTTGAATGGAGGTAATGCCTATTTTGCAGACTGTTTTGAAAGTCAAAAGGGTTAATGTTTATGAAGGCACTTTCTCAAGTGTAAAGTAGACACACACTGTCCATGAGAGAAGATAATCTTGTAAAAATGACGTCACAGAGACTTTTATTCCTCTTTGAAGACTTTTATCTCATTTGTAAAATGAAGGCGCTAGACTAGATGTCATGGTTATAAAATATGTGTGTGTGCAGGTGTATATTAAAAGTGCATGTAGGTGTAGTTTTCTGATAAATTACTTGCTCCAGATGACTTATAAATCCTTTTTCTTACCAAGCCTGTGATAAATCTAACCCTGTTTGAGATTTGAAGACAAATCCCAAAAGAGATTAAGGCCTACCTCTAAATGAAATTCTCAGTCTTACTGATTTTTTGCTTATGTTTACAGCATAAACCCGAAATGAAACATGAGTGGAAATTTCACCTATATCATTGACAAGTTAATTCCAAACACGAACTACTGTGTATCTGTTTATTTAGAGCACAGTGATGAGCAAGCAGTAATAAAGTCTCCCTTAAAATGCACCCTCCTTCCACCTGGCCAGGAATCAGGTATGTTCATTTTTTTAAATTCATGTTTTGAGTATTCATGCTTTTACTCTGAGGGCAAGCCTATTTAAAGAAAAGAATCTGAAAAGAATTCATGGAGCACTAAAGGTCTTTCTTCCAGTAAACACCTCACAGAGATGTTTTCTGTTGGTTCGTGTGTATGATCTGGTAGAGTCACTTTTATATTGTCATACCAAAAAACAATCAGATACTACTCGATGAGATCAGAAATCTTGAAATGGAAACGCTTTTGTTTCAGGGAGTCAGGATTAAATTCAGCACTGTGTGCCCTTTGTGTGGCCATTGCTGAAGCCAAATGCCAGAAGAGGTGGAGTTGCTTGAGACAGTGGTATACAGTGGCATTAAGGGGTGAAAAGGTGGAAGCAGCGAGGTTGGGTGCAGTTCATGGATGTGATCTGGCATCAGCTCTCGCTCATAGATGAAAGGAACCCTTGCCAGGGTGTACGAGAAAATCACTGATGAAGGCTGAACACCTTTCTGTTACACAGACATCAGAACAATAAACAGTGTGATCCCAAACCTTCTTCCCCTTTGGAGTGAGAACAATCAAGCCTCGGAACTCCCTGCTGATTGTTTTCTCAGGAAGTAGCCAAGTTTCCACCTGTTTTACCAAAAGTGAGAAGCTATGCAAGTCTCCCTCAAAGAAGCCCTTCTAAATGTCCCAACCGCAGTGTTAGGGGAAAGAGGTCCCAATCCATACCCCAAGAGAGGGTTCTTGGATCTTGCGCAAGAAAGAATTCAGAGCGAGTCCGTAAAGTGAAAGCAAGTTTATTAGGAAAGTAAAGGAGTAAAGAATGACTACTCTATAGACAGAGCAGCCCCGAGGGCTGCTGGTTGCCCATTTTTATGATTATTTCTTGATGATATGCTAAACAAGGGGTGGATTATTCATGCCTCCCCTTTTTAGACCATGTAGGGTAACTTCCTCACATTGCCATGGCATTTGTAAACTCATGGTGCTGGTGAGAGTGTGGCAGTGAGGACGACCATCTTGGTTTTGGTGGGTTTTGGCCGGCTTTACTGCCATCTGTTTTATCAGCAAGGTCTTTACCAACGGTATCTTGTGCCAACCCCCTATCTCATCCTGTAAGTTACAATGCCTAGACTGTCTGGGAATGCAGCCCAGTAGGTCCCAGCCCCATTTTACCCAGCTCAAGATGGAGTTGCTCTGGCTCAAATGCCTCTGACACCAATGGAAGTATCTTTAATGTTCTGATTTACCAGAATAAAAATAAGGTAGGATCTATAAAGAAATTACTTTAGTTGTAAACCAAAATAAAATTCTAAGCCCCCCAACCAACTGAATGGATCCCTCCTCTCAGCCAAGGGCCGAGTAAAGTAAAGTAAACCTGAAACACTAGTTCAGGCCATGATGGGAGTGAGTGGTCCAGACGTGCCTCACGGGACCTTCCTACCTTTGGAATTCAGGCACAGCTGGCCAGCACTAATATTAAAACAGAAACCTTAAGACTGACAAAAAGATGCTTTGTAGCACTAATACCAGCATGATGGATAGCAGGCCCTAAAAGAAACCAAAGTGTTTTACCCCAAAATACATTTCTTTGACATATTTTGAAATGGCCCTGCAAAGCTGTCTCTTGCAGGGAAAATCTGCTTTCTATAAAGAACCCCCTTCCCAGTCCAGGTGTTCTTCCTGATCCAAGAGAGAATTCACTAAGAGTCTGGCACTTTTTTAAGTCCAGTAAGAAACATTTACAGTCTGTTCTCTCTGAAGCCTGCTACCAGAGGCTTCATCTGCGTAATAGGAACCGTGGCCTCCGCAACCCTTTGTCTTAACCCAGATGCTTCCTTTTATTAATTCCAAGTTTTTAATCAGAAAATCTTTGAATCTACCTATGACCTGGAAGCCCCCCNNNNN
|
pathogenic
| 317,622 |
Does the variant on chromosome 21 at location 33262774 affecting gene IFNAR2 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
benign
|
TGGTAGGTAGTTTTTTTGTTTTGTTTTGTTTTTTCTATCTTTGTTTTTTATTTTAACTTAAGAATTTGTATTTATATAAATATTTTCACAGAAGAAAATCTCATTTTCTATAAACACCAAAATGCTTTCTCACTCTGAGTTCTTTTCCATATCTATAAATGTATATTTTGCAGGGTTTTTGTTTTGTTTTTGTTTTTATTATACTTTTAAGTTTTAGGGTACATGTGCACAGTGTGCAGGTTAGTTACATATATATACATGTGCAGTTGTAAGTGTATCTGTGCATCTGTGCATTTTATGTTTTCTTTCCTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTCAGCTGACTGTAACCTCTGCCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCTCAAGTAGCTGGGACTACAGGCGTGTGCTACCACACCTGGCTAATTTTTGCATTTTTAGTAGAGATGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGTGTGAGCCACTGCACTCAGCAATGTTTTGTTTTGTTTTGTTTTTATACTTCATCACATAATTTATAATGATCAGGTAGAATTTCATTATTATTAACATACCATTTTTCATTTAACCATTTCTCAGCTAAAGGGCATTTGGATTTCTTTTCCTTTTCTTTTCTTTGGTGATGATGAATAGTACAATAAACATTTTTATATGGATCGTCTTTTTGTTTTGGATTATGTCAGTGGAACATATACACAAAGTGGATTTATCCTATAAAAAGATTTAAAAAGGACTAGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGTGGATCATTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAATATAAGGAAACCTTGTCTTAGAGAAAATAAAAATAAATTAGCCAGGCATGCTGGCACATGCCTGTGGTCTCAGCTACTCAGGAGGATGTGGTGAGAGGATTGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGCGCCACTGCACTCCAGCCTCGGTTACAGAGTGAGACCCTAGCTCTAAAAATATATAAATATCTTAAAAATATAAAGAAGCAGCCAAAGGAGAGGAAGTTAAGAGGAGTAAGTCAGAACATAGTCTATGTGGCCAGCAGCCTGCCTGGTTTGAAAGGCAGCTGCTCCCACTCACTAGTCACAAACCTTGAGCAAGTTTCTTAACTTCTGCACCTCATTTTCTCATCTGTAAAGTGGGCATAAGAATAGTAAGCCTGGCCAGGCGCGGTGGCCACGCCTATAAACCCAGCACTTCGGGAGGCCAAGGCAGGTAGATCACGAGGTCGGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTTGCCGGGCATAGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGACCGCACTACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCCGTCTCAAAAAAAAAAAAAAAAAAAAATAGTAAGCATACCTCATAGAGCAGTTGCAAGGGAAAGGTAAATTATATATAAAGCACCAAGAGTCATGCCCAGCATATAGTAAGCATGGTGTAACTGTTAGCTGTTATTATTGCTGTCATCATCATCAACTGCATCATCATTCAATCTCATTAAGTTTATTTTTTATTTTTTTAGAGGCAAGGTCTCGCTAAGGGCTGGAATGCAGTGGCTATTCACAGGTGCAGTCATAATGCACTACAGTCTGAAACTCCTGAGCTCAAACAGTCGTCCTGCCTAAGCTTCCCCAGTAGCTGGGATTACAAGCGTGCATCCCTGTGCCCCAGTGATTAAGTTTTATTATGTAGAAAATAAAGAGCAAACAGTACAGCTGATACGGACTCTCTCTCTCTTTTTTTTTTTTTTTAAGAATTTTCATAACTTTTTAGCCTGGCCATTTCCTAACCTGCCACCGTTGGAAGCCATGGATATGGTGGAGGTCATTTACATCAACAGAAAGAAGAAAGTGTGGGATTATAATTATGATGATGAAAGTGATAGCGATACTGAGGCAGCGCCCAGGACAAGTGGCGGTGGCTATACCATGCATGGACTGACTGTCAGGCCTCTGGGTCAGGCCTCTGCCACCTCTACAGAATCCCAGTTGATAGACCCGGAGTCCGAGGAGGAGCCTGACCTGCCTGAGGTTGATGTGGAGCTCCCCACGATGCCAAAGGACAGCCCTCAGCAGTTGGAACTCTTGAGTGGGCCCTGTGAGAGGAGAAAGAGTCCACTCCAGGACCCTTTTCCCGAAGAGGACTACAGCTCCACGGAGGGGTCTGGGGGCAGAATTACCTTCAATGTGGACTTAAACTCTGTGTTTTTGAGAGTTCTTGATGACGAGGACAGTGACGACTTAGAAGCCCCTCTGATGCTATCGTCTCATCTGGAAGAGATGGTTGACCCAGAGGATCCTGATAATGTGCAATCAAACCATTTGCTGGCCAGCGGGGAAGGGACACAGCCAACCTTTCCCAGCCCCTCTTCAGAGGGCCTGTGGTCCGAAGATGCTCCATCTGATCAAAGTGACACTTCTGAGTCAGATGTTGACCTTGGGGATGGTTATATAATGAGATGACTCCAAAACTATTGAATGAACTTGGACAGACAAGCACCTACAGGGTTCTTTGTCTCTGCATCCTAACTTGCTGCCTTATCGTCTGCAAGTGTTCTCCAAGGGAAGGAGGAGGAAACTGTGGTGTTCCTTTCTTCCAGGTGACATCACCTATGCACATTCCCAGTATGGGGACCATAGTATCATTCAGTGCATTGTTTACATATTCAAAGTGGTGCACTTTGAAGGAAGCACATGTGCACCTTTCCTTTACACTAATGCACTTAGGATGTTTCTGCATCATGTCTACCAGGGAGCAGGGTTCCCCACAGTTTCAGAGGTGGTCCAGGACCCTATGATATTTCTCTTCTTTCGTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTCGCCCAAGCTGGAGCGCAATGGTGTGATCTTGGCTCACTGCAACATCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTCGCAAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTAGCAAATTTTTGTATTTTTAGTAGAGACAGGATTTTACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCTCCTCAGCCTCGTAAAGTGCTGGGATTACAGGGGTGAGCCGCTGTGCCTGGCTGGCCCTGTGATATTTCTGTGAAATAAATTGGGCCAGGGTGGGAGCAGGGAAAGAAAAGGAAAATAGTAGCAAGAGCTGCAAAGCAGGCAGGAAGGGAGGAGGAGAGCCAGGTGAGCAGTGGAGAGAAGGGGGGCCCTGCACAAGGAAACAGGGAAGAGCCATCGAAGTTTCAGTCGGTGAGCCTTGGGCACCTCACCCATGTCACATCCTGTCTCCTGCAATTGGAATTCCACCTTGTCCAGCCCTCCCCAGTTAAAGTGGGGAAGACAGACTTTAGGATCACGTGTGTGACTAATACAGAAAGGAAACATGGCGTCGGGGAGAGGGATAAAACCTGAATGCCATATTTTAAGTTAAAAAAAAAAAAAGCAAACACAAAGATGCTTCAAGATCTTCAGGAGAAGTATGGTATACAAGTTTCAGGGACCCTATTTGACAATTTTCAGAGTGCTCTCTATGCTGATTCCGAGTCGAGTGTGTCAGCTGTGATTACAGTGCCTGTGGATCTAGGCCGGGTTGGGGGGGTGTGGGCGGGGGAAGGGAAGTCTGGCCCGGAGCAATTGCTCCTGCCGGTAACCCCAGCACTTTGGGATGCCTAAACAGGCGTATCGCTTGAGGCCAGTAATTCGAGACCAGCCTGGGCAACATGGCAAATCTGTCTCT
|
TGGTAGGTAGTTTTTTTGTTTTGTTTTGTTTTTTCTATCTTTGTTTTTTATTTTAACTTAAGAATTTGTATTTATATAAATATTTTCACAGAAGAAAATCTCATTTTCTATAAACACCAAAATGCTTTCTCACTCTGAGTTCTTTTCCATATCTATAAATGTATATTTTGCAGGGTTTTTGTTTTGTTTTTGTTTTTATTATACTTTTAAGTTTTAGGGTACATGTGCACAGTGTGCAGGTTAGTTACATATATATACATGTGCAGTTGTAAGTGTATCTGTGCATCTGTGCATTTTATGTTTTCTTTCCTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGCGTGATCTCAGCTGACTGTAACCTCTGCCTCCTAGGCTCAAGCAATTCTCGTGCCTCAGCCTCTCAAGTAGCTGGGACTACAGGCGTGTGCTACCACACCTGGCTAATTTTTGCATTTTTAGTAGAGATGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGTGTGAGCCACTGCACTCAGCAATGTTTTGTTTTGTTTTGTTTTTATACTTCATCACATAATTTATAATGATCAGGTAGAATTTCATTATTATTAACATACCATTTTTCATTTAACCATTTCTCAGCTAAAGGGCATTTGGATTTCTTTTCCTTTTCTTTTCTTTGGTGATGATGAATAGTACAATAAACATTTTTATATGGATCGTCTTTTTGTTTTGGATTATGTCAGTGGAACATATACACAAAGTGGATTTATCCTATAAAAAGATTTAAAAAGGACTAGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGTGGATCATTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAATATAAGGAAACCTTGTCTTAGAGAAAATAAAAATAAATTAGCCAGGCATGCTGGCACATGCCTGTGGTCTCAGCTACTCAGGAGGATGTGGTGAGAGGATTGCTTGAGCCCAGGAGGTGGAGGCTGCAGTGAGCTGTGATTGCGCCACTGCACTCCAGCCTCGGTTACAGAGTGAGACCCTAGCTCTAAAAATATATAAATATCTTAAAAATATAAAGAAGCAGCCAAAGGAGAGGAAGTTAAGAGGAGTAAGTCAGAACATAGTCTATGTGGCCAGCAGCCTGCCTGGTTTGAAAGGCAGCTGCTCCCACTCACTAGTCACAAACCTTGAGCAAGTTTCTTAACTTCTGCACCTCATTTTCTCATCTGTAAAGTGGGCATAAGAATAGTAAGCCTGGCCAGGCGCGGTGGCCACGCCTATAAACCCAGCACTTCGGGAGGCCAAGGCAGGTAGATCACGAGGTCGGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTTGCCGGGCATAGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGACCGCACTACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCCGTCTCAAAAAAAAAAAAAAAAAAAAATAGTAAGCATACCTCATAGAGCAGTTGCAAGGGAAAGGTAAATTATATATAAAGCACCAAGAGTCATGCCCAGCATATAGTAAGCATGGTGTAACTGTTAGCTGTTATTATTGCTGTCATCATCATCAACTGCATCATCATTCAATCTCATTAAGTTTATTTTTTATTTTTTTAGAGGCAAGGTCTCGCTAAGGGCTGGAATGCAGTGGCTATTCACAGGTGCAGTCATAATGCACTACAGTCTGAAACTCCTGAGCTCAAACAGTCGTCCTGCCTAAGCTTCCCCAGTAGCTGGGATTACAAGCGTGCATCCCTGTGCCCCAGTGATTAAGTTTTATTATGTAGAAAATAAAGAGCAAACAGTACAGCTGATACGGACTCTCTCTCTCTTTTTTTTTTTTTTAAGAATTTTCATAACTTTTTAGCCTGGCCATTTCCTAACCTGCCACCGTTGGAAGCCATGGATATGGTGGAGGTCATTTACATCAACAGAAAGAAGAAAGTGTGGGATTATAATTATGATGATGAAAGTGATAGCGATACTGAGGCAGCGCCCAGGACAAGTGGCGGTGGCTATACCATGCATGGACTGACTGTCAGGCCTCTGGGTCAGGCCTCTGCCACCTCTACAGAATCCCAGTTGATAGACCCGGAGTCCGAGGAGGAGCCTGACCTGCCTGAGGTTGATGTGGAGCTCCCCACGATGCCAAAGGACAGCCCTCAGCAGTTGGAACTCTTGAGTGGGCCCTGTGAGAGGAGAAAGAGTCCACTCCAGGACCCTTTTCCCGAAGAGGACTACAGCTCCACGGAGGGGTCTGGGGGCAGAATTACCTTCAATGTGGACTTAAACTCTGTGTTTTTGAGAGTTCTTGATGACGAGGACAGTGACGACTTAGAAGCCCCTCTGATGCTATCGTCTCATCTGGAAGAGATGGTTGACCCAGAGGATCCTGATAATGTGCAATCAAACCATTTGCTGGCCAGCGGGGAAGGGACACAGCCAACCTTTCCCAGCCCCTCTTCAGAGGGCCTGTGGTCCGAAGATGCTCCATCTGATCAAAGTGACACTTCTGAGTCAGATGTTGACCTTGGGGATGGTTATATAATGAGATGACTCCAAAACTATTGAATGAACTTGGACAGACAAGCACCTACAGGGTTCTTTGTCTCTGCATCCTAACTTGCTGCCTTATCGTCTGCAAGTGTTCTCCAAGGGAAGGAGGAGGAAACTGTGGTGTTCCTTTCTTCCAGGTGACATCACCTATGCACATTCCCAGTATGGGGACCATAGTATCATTCAGTGCATTGTTTACATATTCAAAGTGGTGCACTTTGAAGGAAGCACATGTGCACCTTTCCTTTACACTAATGCACTTAGGATGTTTCTGCATCATGTCTACCAGGGAGCAGGGTTCCCCACAGTTTCAGAGGTGGTCCAGGACCCTATGATATTTCTCTTCTTTCGTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGTTCTGTCGCCCAAGCTGGAGCGCAATGGTGTGATCTTGGCTCACTGCAACATCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTCGCAAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTAGCAAATTTTTGTATTTTTAGTAGAGACAGGATTTTACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCCTCCTCAGCCTCGTAAAGTGCTGGGATTACAGGGGTGAGCCGCTGTGCCTGGCTGGCCCTGTGATATTTCTGTGAAATAAATTGGGCCAGGGTGGGAGCAGGGAAAGAAAAGGAAAATAGTAGCAAGAGCTGCAAAGCAGGCAGGAAGGGAGGAGGAGAGCCAGGTGAGCAGTGGAGAGAAGGGGGGCCCTGCACAAGGAAACAGGGAAGAGCCATCGAAGTTTCAGTCGGTGAGCCTTGGGCACCTCACCCATGTCACATCCTGTCTCCTGCAATTGGAATTCCACCTTGTCCAGCCCTCCCCAGTTAAAGTGGGGAAGACAGACTTTAGGATCACGTGTGTGACTAATACAGAAAGGAAACATGGCGTCGGGGAGAGGGATAAAACCTGAATGCCATATTTTAAGTTAAAAAAAAAAAAAGCAAACACAAAGATGCTTCAAGATCTTCAGGAGAAGTATGGTATACAAGTTTCAGGGACCCTATTTGACAATTTTCAGAGTGCTCTCTATGCTGATTCCGAGTCGAGTGTGTCAGCTGTGATTACAGTGCCTGTGGATCTAGGCCGGGTTGGGGGGGTGTGGGCGGGGGAAGGGAAGTCTGGCCCGGAGCAATTGCTCCTGCCGGTAACCCCAGCACTTTGGGATGCCTAAACAGGCGTATCGCTTGAGGCCAGTAATTCGAGACCAGCCTGGGCAACATGGCAAATCTGTCTCTN
|
benign
| 317,625 |
Mutation at chromosome 21, position 33432890, within TMEM50B: benign or pathogenic? If pathogenic, indicate the disease(s).
|
benign
|
TGTTTTCAAGCATATGTTATACCACCATTTCATGTGGCTGTAGTGGATTATATTGTATCTCAAAATTAGAAAACAGTTCTTTGCAAGAAACCCTATACTGCCATAATAGGGTATCGCTGTTTTCCACTTTGGTATGGGACAATGACAGCCTTGCCAGGACAACAGGAGCCATTGCCTGGAAGACCAGGTGGGGAGGCAGCAAGGCCTGCTCAAGGCAGCAGAGGGATGCGCAGAGGAGACACAGAACCTTCCTAGAGTCTAGGGTCCAGTTGTCTCCTGATGACATAAATCCTTAAGGTCATTTTAGCTGAAACTATAGGAGGCTCAAGCACATTTCGGTCAAACTAGAAGCAGGTTGGGAATGAAAGGAACATTATTTCCCAGAATAATTTTTTCTCTGTTGACTAACTTGAGGTATCTAGATTAACCGTGAGATACAAAATGTTGGCCAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGATCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAATGAGCCAGACATGATGGTGGGTGTCTATAATCCCAACTACTCAGGAGTTGGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGGTCGCACCATTGCGGTCCAGCCTGGTGACAGAGCGAAACTCCATCTCAAAAAAAAAAAGAAATACAAAATGTTTGTTTTGAGATGGAGTCTTGCTCTTCATCCAGGCTGGCGCAATCTCAGCTCACTGCACCCTCTGCCTCCTGGTCCAAGTGATTCTCCTCCCTCAGCCTCCCATGTAGCTGGGATTACAGGTGTGTGCCACCACATCCAGCTAATTTTTGTACTTTTAGTAGAGACTGGGTTTTGCAATGTTGGCCAGGCTGGTCTCTTAACTCCTGACCTCAGGTGATCCACCCACCCTGGCCTCCCAAAGTGGTGGGATTATAGGCGTGAGCCACCCCATCCAGCCCAAAATGTTAAAGGAGAAAAAGATTATCCTAGAAATTGGGATTTACTGAAGTCTAGTTACTACAATGGGCACTCTGAGACCTCACAGCCAGAAACACAGTTCTAAAGCTATCAGCCTCTTTGGCCACACAACACACCAATTTTCACACATAAAATGTGTCCACTGCCAGCCAGTGACCCACTAAAAATGGCATCTTGTTCTTCTTTGGTTGTCGTGTTCACAGTGAATTTGAGGAAACATCAGAAAAGATGTAGGCAGCTTGGCCATGTTCATTTACATGTGTGCTTGTGATGTTTTTAAAACAGGTCAAAGGCCCTTTCAGAAGCAACTCCATTTCATTGGATAACTTAAAACCCTCCAGAGTGTACTGTTTACAAGTCCAGGCACAACTGCTTTGGAACAAAAGTAACATCTTTAGAGTCGGGCATTTAAGCAACATATCTTGCTACGAAACAATGGCAGATGGTAAAATATACCTTCTTATGTCCTTTCTGAACTGGGAAAAGAATACTCCTCCAATAGTGAAATCGGGGAATGCTTATGAGGTCATGGGTGGTGGGAGTGGGGAGACCCAGTGAGAAGAGTGCTGAACTGCAGGAATAATGAGCTTGTGCTGAGATTTGCAGTAGTGGAGGCTACCAGACAGCTACCACTTGCTTTATTTCATTACAGGATTGACTTTAGCTATTAATGTAAGCATACCAGGTGAGGGTGGGGGGTAGAGGGACTTGCCCATTTTACTAGGACAGGAATGCTCTTTAAGCAGCATGGATGGAACATTAACTGATGTTTGTGTTGTGCGTAGGAAGATCATTCTGTTCACTTTCGTGTCCTCTTTTTAGCCTCCACTGAGCTTCAGCAAGTCATCCTGATCTCCGTGGGAACATTTTCGTTGCTGTCGGTGCTGGCAGGAGCCTGTTTCTTCCTGGTCCTGAAATATAGAGGCCTGATTAAATACTGGTTTCACACTCCACCAAGCATCCCATTACAGATAGAAGAGGTACGTGTGCACACATCTCTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCGGGAGTGTCATGGTACAATCTCTGCTCACTGCAGCCTCCATCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGTATTACAAGTGCTCACCACCATGGCCTGCTAATTTTTGTATTTTTGGTAGAAACAGGGTTTTGCTATGTTGGCCAGACTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACTGCGCCCGGCCACGCAGACATCTTAATGGTGACACATCAGGGCCCCACTGCCCCTGGCAACCCCTAAGAGTGCAGCTGTGGGCAAAGCCGTGGACACAGAGATTTGGGTTACAAATGGTATGGGGTTGTTTGTACACCCATGTTCATGTTGACACGATTCACAACAGCCAAAAGGTGGAAGCACTCCGGTGTCGTTGAAGGATTAATAGATAAATCTTTAATAGATGGTCTTTCCATACAATGGAATATCATTCAGCCTTAGAAAGGAAGGGGATTGTGACACATCCTACCACACACATGGACCTTGAGGACATTATGCTGAGTAGAGTAGGGCAGTCACAAAAGGATACTGTCTGCTTCCACTTAAATGAGGTCCCCAGAGTCATCAAATCCATAAAGACAGGAAGTAGAATGGTGGTTGCGGTGGTGGAGGGAGGGAAGTGGGAAGTTCGTGTTGAATGGGGCCAGAGTTTCAGTTCTGGGGCTGTACAGAGTTCTGGAGATGGATGGTGGTCATGATTGCACAATGTGAATGTGCTTGGCACTACCGAACTGTACACCTAAAAAGAGTTATGATGGTACATTTTATGTTATGTGTATTTTACCACAATTTAATTTTTTTTTTTTAATGGCATGGGGTTGGCTAAAAAGGTGGCCTGGCCTGGAGATTGGCTGCAGTAGACCCCTCTCCGAGGCAGCAGGTCTCCTCTGCTGTCTGGAGAATGCTCCAGGGAAGTGGCCTGGCTGGAGGACGTGAAGGCGGTGGAGACAGTGATCAGGAGCTTGAGCTTTGGGGCCCACAGGGTGCTTAGGAGGGCCCTAAGGCAGAGTCAACACCCAGAGCTGTGAGTGCCAGGCCCCGTGTACCCATTGCCCAGTGGGTATTGCTAATATTTGAAAGGACTTGAGAAAGAACAGTAGCGTGGGTCTTGTGGAAAGTCTTATTTTCCTGCATAACCCCAGCCCCCTGAGGCTCTGTGAGGCCATTGGGCCTTCTGAGGACACGGTCAGGACATTTTGGGGATCAGAGGCGAGCTGAGAGAAGAACATTTAAAAAGCATTTGCAGCCGGGCGCAGTGACCCACACCTGTAATCCCAGGACTTGGGGAGGCCAGGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAAAAATACAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACATGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTACAGTAAGCCAATATCGCACCATAGCACTTTAGCTTGGGTGGCAGAGCAAGACTCCATCTCAAAAAAATAAAATAAATAAAAAGCATTTGCTTCTGGAGGCTTCACATTATTCTTGGGTAAACCTAGAGTAAAGGTGTTGGAAGCAGAATGTTACTCAGTTACATGTGGGATGAACAGAGGTTAGATAAGGTCCAAGTCTGCAGAAACATAGCAGCACTTTCAGAAAGAACCCTAGTCACTTGTTCCTTCATCTGCCATGATGTATTGTAGGTACACAGGCAGTATACAGATTCCCTACTAGAACCTCCCTGGTTAATATTGTCACAAAATCACAGCTCCTAACAGGTCTCAGAATCTTACTTGCAGTAATAATCTCTCTCTCTCCTGGTAGAACTACCAGCTGAGCCCCAGTACATGAATATACTATGAGTCATTCCTCTGAGACATGAACAGAAAACACAGGCCTGTCAGTTCAC
|
TGTTTTCAAGCATATGTTATACCACCATTTCATGTGGCTGTAGTGGATTATATTGTATCTCAAAATTAGAAAACAGTTCTTTGCAAGAAACCCTATACTGCCATAATAGGGTATCGCTGTTTTCCACTTTGGTATGGGACAATGACAGCCTTGCCAGGACAACAGGAGCCATTGCCTGGAAGACCAGGTGGGGAGGCAGCAAGGCCTGCTCAAGGCAGCAGAGGGATGCGCAGAGGAGACACAGAACCTTCCTAGAGTCTAGGGTCCAGTTGTCTCCTGATGACATAAATCCTTAAGGTCATTTTAGCTGAAACTATAGGAGGCTCAAGCACATTTCGGTCAAACTAGAAGCAGGTTGGGAATGAAAGGAACATTATTTCCCAGAATAATTTTTTCTCTGTTGACTAACTTGAGGTATCTAGATTAACCGTGAGATACAAAATGTTGGCCAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGATCAGGAGCTCGAGACCAGCCTGGGCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAATGAGCCAGACATGATGGTGGGTGTCTATAATCCCAACTACTCAGGAGTTGGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGGTCGCACCATTGCGGTCCAGCCTGGTGACAGAGCGAAACTCCATCTCAAAAAAAAAAAGAAATACAAAATGTTTGTTTTGAGATGGAGTCTTGCTCTTCATCCAGGCTGGCGCAATCTCAGCTCACTGCACCCTCTGCCTCCTGGTCCAAGTGATTCTCCTCCCTCAGCCTCCCATGTAGCTGGGATTACAGGTGTGTGCCACCACATCCAGCTAATTTTTGTACTTTTAGTAGAGACTGGGTTTTGCAATGTTGGCCAGGCTGGTCTCTTAACTCCTGACCTCAGGTGATCCACCCACCCTGGCCTCCCAAAGTGGTGGGATTATAGGCGTGAGCCACCCCATCCAGCCCAAAATGTTAAAGGAGAAAAAGATTATCCTAGAAATTGGGATTTACTGAAGTCTAGTTACTACAATGGGCACTCTGAGACCTCACAGCCAGAAACACAGTTCTAAAGCTATCAGCCTCTTTGGCCACACAACACACCAATTTTCACACATAAAATGTGTCCACTGCCAGCCAGTGACCCACTAAAAATGGCATCTTGTTCTTCTTTGGTTGTCGTGTTCACAGTGAATTTGAGGAAACATCAGAAAAGATGTAGGCAGCTTGGCCATGTTCATTTACATGTGTGCTTGTGATGTTTTTAAAACAGGTCAAAGGCCCTTTCAGAAGCAACTCCATTTCATTGGATAACTTAAAACCCTCCAGAGTGTACTGTTTACAAGTCCAGGCACAACTGCTTTGGAACAAAAGTAACATCTTTAGAGTCGGGCATTTAAGCAACATATCTTGCTACGAAACAATGGCAGATGGTAAAATATACCTTCTTATGTCCTTTCTGAACTGGGAAAAGAATACTCCTCCAATAGTGAAATCGGGGAATGCTTATGAGGTCATGGGTGGTGGGAGTGGGGAGACCCAGTGAGAAGAGTGCTGAACTGCAGGAATAATGAGCTTGTGCTGAGATTTGCAGTAGTGGAGGCTACCAGACAGCTACCACTTGCTTTATTTCATTACAGGATTGACTTTAGCTATTAATGTAAGCATACCAGGTGAGGGTGGGGGGTAGAGGGACTTGCCCATTTTACTAGGACAGGAATGCTCTTTAAGCAGCATGGATGGAACATTAACTGATGTTTGTGTTGTGCGTAGGAAGATCATTCTGTTCACTTTCGTGTCCTCTTTTTAGCCTCCACTGAGCTTCAGCAAGTCATCCTGATCTCCGTGGGAACATTTTCGTTGCTGTCGGTGCTGGCAGGAGCCTGTTTCTTCCTGGTCCTGAAATATAGAGGCCTGATTAAATACTGGTTTCACACTCCACCAAGCATCCCATTACAGATAGAAGAGGTACGTGTGCACACATCTCTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCGGGAGTGTCATGGTACAATCTCTGCTCACTGCAGCCTCCATCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGTATTACAAGTGCTCACCACCATGGCCTGCTAATTTTTGTATTTTTGGTAGAAACAGGGTTTTGCTATGTTGGCCAGACTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACTGCGCCCGGCCACGCAGACATCTTAATGGTGACACATCAGGGCCCCACTGCCCCTGGCAACCCCTAAGAGTGCAGCTGTGGGCAAAGCCGTGGACACAGAGATTTGGGTTACAAATGGTATGGGGTTGTTTGTACACCCATGTTCATGTTGACACGATTCACAACAGCCAAAAGGTGGAAGCACTCCGGTGTCGTTGAAGGATTAATAGATAAATCTTTAATAGATGGTCTTTCCATACAATGGAATATCATTCAGCCTTAGAAAGGAAGGGGATTGTGACACATCCTACCACACACATGGACCTTGAGGACATTATGCTGAGTAGAGTAGGGCAGTCACAAAAGGATACTGTCTGCTTCCACTTAAATGAGGTCCCCAGAGTCATCAAATCCATAAAGACAGGAAGTAGAATGGTGGTTGCGGTGGTGGAGGGAGGGAAGTGGGAAGTTCGTGTTGAATGGGGCCAGAGTTTCAGTTCTGGGGCTGTACAGAGTTCTGGAGATGGATGGTGGTCATGATTGCACAATGTGAATGTGCTTGGCACTACCGAACTGTACACCTAAAAAGAGTTATGATGGTACATTTTATGTTATGTGTATTTTACCACAATTTAATTTTTTTTTTTTAATGGCATGGGGTTGGCTAAAAAGGTGGCCTGGCCTGGAGATTGGCTGCAGTAGACCCCTCTCCGAGGCAGCAGGTCTCCTCTGCTGTCTGGAGAATGCTCCAGGGAAGTGGCCTGGCTGGAGGACGTGAAGGCGGTGGAGACAGTGATCAGGAGCTTGAGCTTTGGGGCCCACAGGGTGCTTAGGAGGGCCCTAAGGCAGAGTCAACACCCAGAGCTGTGAGTGCCAGGCCCCGTGTACCCATTGCCCAGTGGGTATTGCTAATATTTGAAAGGACTTGAGAAAGAACAGTAGCGTGGGTCTTGTGGAAAGTCTTATTTTCCTGCATAACCCCAGCCCCCTGAGGCTCTGTGAGGCCATTGGGCCTTCTGAGGACACGGTCAGGACATTTTGGGGATCAGAGGCGAGCTGAGAGAAGAACATTTAAAAAGCATTTGCAGCCGGGCGCAGTGACCCACACCTGTAATCCCAGGACTTGGGGAGGCCAGGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAAAAATACAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACATGAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTTACAGTAAGCCAATATCGCACCATAGCACTTTAGCTTGGGTGGCAGAGCAAGACTCCATCTCAAAAAAATAAAATAAATAAAAAGCATTTGCTTCTGGAGGCTTCACATTATTCTTGGGTAAACCTAGAGTAAAGGTGTTGGAAGCAGAATGTTACTCAGTTACATGTGGGATGAACAGAGGTTAGATAAGGTCCAAGTCTGCAGAAACATAGCAGCACTTTCAGAAAGAACCCTAGTCACTTGTTCCTTCATCTGCCATGATGTATTGTAGGTACACAGGCAGTATACAGATTCCCTACTAGAACCTCCCTGGTTAATATTGTCACAAAATCACAGCTCCTAACAGGTCTCAGAATCTTACTTGCAGTAATAATCTCTCTCTCTCCTGGTAGAACTACCAGCTGAGCCCCAGTACATGAATATACTATGAGTCATTCCTCTGAGACATGAACAGAAAACACAGGCCTGTCAGTTCA
|
benign
| 317,676 |
The chromosome 21, position 33549607 genetic variant in gene SON (SON DNA and RNA binding protein): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Inborn_genetic_diseases', 'ZTTK_syndrome']
|
AACAGACTTGCTTAGATTCATGGCTCTAACAACCTTCATTGAAGTATGACTTATCTAACATTTTGTATTATGAAACAAACAATTAATAGAAAATGGTAAGTTTTGCTTTGGCCTATGTCAAGTGTTGATTTATTTTCTTCTGTAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGACGCCCAGGCTGGAGTGCAGTGGGGTGATCTCAGCTGACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTGTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCACACCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTTTTTTAGTAGAGACGGGGTTTTACCGTGTTAGCCAGGATGGTCTTGATCTCCTGGCCTCGTGATCCACACGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGTGCCCGGCCTTTTTTCTGTAGTCTTAATGGCTCAGATTTCTGATGAGCTTTTTTGGGGGTCCCTAAGATTTATCTAATTTGATATTGGCATTAGAGTAAATAAATCCCATCTGGTTGTTAAAGTTGAATACTCCCATCTCTTTAGGGTATGTAAATTCAAACCTTCTTAAGTTGTAAATTAAGGACTAAGAATTTCCTCTCTAAAATCAGTATTCTTTTCTAAAATAGAAACATTTGAAAAGTTATTTATTAGTGGTTTTAGAATAGTATTGGGGGAAAATGTTATCTCTTTAGGGTATGTAAATTCAAACTTTCTTAAGTTATAAGGACTAAGAATTTCCTCTCTAAAATCAGTATCCTTTTCTAAAACAGAAACATTTAAAAAGTTATTTTAGTGGTTTCAGAATAGTATTGGGGGAAAATATTATTTTTATTAGAATGTAACGTAGGCATGATAAGGTAAAATTTGAGTTCTCTATGAATATTTTATATTTGTTATTCAGATATTTTTATACTCTGTAGAAGCAATCACTAACCTTTGTTGAAAGCTTATTCTGTGCCAGGCATTATTTGATGTACTTTGCATGTTTTAACTCACTTTATCCTCTAACTCTAGAAGACACAAGTGTGTCAGTAATTTGGCCAAGACCATTAACCTAGTAAGTGATGAACTGATTGAGGATTCAAAAGTGGCAGTCTGTTCCAGAGCCAGTGCCATGTTGCTTCCTGTATAAACAAGGGTTAATAATCGCAAAAATTATATTATGTGGGTATTTTTAATAGAAACTGTAGCAACTAATAACATGAAATATATTCAGTGACAAAAGTAGTTTAAAAGTAATTTTGCTATGATTTGAGAGCTGGAGGGAATAATTATTTTAATAGAATTTAGTGAAACATGTCTTAATGTAATTCAAAGTAAGTTTTGGTGTTTAATAATTTATTTTTAACCCAGGCATTAGTTGTGGAAAGAATTATCAGAAAAGTAGTAGTCTCCAGGTTAACTGTTTTATGAAAAATAGTTTATTTGGTAACTTTTAATTTAACGTGAGGTGTTATACTGTGGGGTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTACAGTGGTGCAATTTCAGCTCACTGAAACCTCGACCTACTGGGTTCAAGTGATCCGCCTCAGCCTCCCAAATAGCTGGGACTACAGGTGCGCGTCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTTTTGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCTCAGAGTGCTAAGATTACAGGCGTGAGCCACTGTACTTGGCCTGTACTAAGGTGTTTTAACATGGAATGTAAATATGGGTTTATATGATTTAATCTAACTCTACTTTGGGGAATGTCTGACAAAATTAATTTCTATTACTTTTAGACTTGAAAGAGGGCTCCAGAAAAAGTAGATGCGTATCTGTACAAACAGATCCTACTGATGAAATTCCCACTAAAAAGTCAAAGAAGCATAAAAAGCACAAAAACAAAAAGAAGAAAAAGAAGAAAGAAAAGGAAAAAAAATATAAAAGACAGCCAGAAGAATCTGAGTCAAAGACGAAATCTCATGATGATGGGAACATAGATTTAGAATCTGATTCCTTTTTAAAGTTTGATTCTGAACCTTCAGCTGTGGCGCTGGAGCTTCCTACAAGAGCATTTGGCCCATCTGAGACCAATGAATCCCCTGCAGTTGTGCTAGAACCTCCTGTAGTATCAATGGAGGTATCAGAGCCACACATCTTAGAAACTCTGAAGCCAGCTACAAAAACTGCAGAACTGTCAGTTGTATCTACATCAGTAATCTCAGAGCAGTCAGAGCAGTCTGTGGCAGTAATGCCAGAACCATCCATGACAAAGATTCTGGATTCCTTTGCAGCAGCACCAGTGCCTACTACAACACTGGTGTTGAAGTCATCTGAGCCAGTTGTAACAATGTCAGTGGAGTATCAGATGAAGTCTGTGCTGAAATCTGTGGAGAGCACATCTCCAGAGCCATCAAAGATCATGTTGGTAGAGCCCCCAGTAGCAAAAGTGTTAGAGCCTTCAGAAACCCTTGTGGTATCATCAGAGACACCTACTGAGGTGTACCCTGAGCCAAGCACATCAACAACAATGGATTTTCCAGAGTCATCTGCAATTGAAGCGCTAAGATTGCCAGAGCAGCCTGTAGACGTACCATCGGAGATTGCAGATTCATCCATGACAAGACCGCAGGAGTTGCCGGAGCTGCCTAAGACCACAGCGTTGGAGCTGCAGGAGTCGTCGGTGGCCTCAGCGATGGAGTTGCCGGGGCCACCTGCGACCTCCATGCCGGAGTTGCAGGGGCCCCCTGTGACTCCAGTGCTGGAGTTACCTGGGCCCTCTGCTACCCCGGTGCCAGAGTTGCCAGGGCCCCTTTCTACCCCAGTGCCTGAGTTGCCAGGGCCCCCTGCGACAGCAGTGCCTGAGTTGCCAGGGCCCTCTGTGACACCAGTGCCACAGTTGTCGCAGGAATTGCCAGGGCTTCCAGCACCATCCATGGGGTTGGAGCCACCACAGGAGGTACCAGAGCCACCTGTGATGGCACAGGAGTTGCCAGGGCTGCCTTTGGTGACAGCAGCAGTAGAGTTGCCAGAGCAGCCTGCGGTAACAGTAGCAATGGAGTTGACCGAACAACCTGTGACGACGACAGAGTTGGAGCAGCCTGTGGGGATGACAACGGTGGAACATCCTGGGCATCCTGAGGTGACAACGGCAACAGGGTTGCTGGGGCAGCCTGAGGCAACGATGGTGCTGGAGTTGCCAGGACAGCCAGTGGCAACGACAGCGCTGGAGTTGCCGGGGCAGCCTTCGGTGACTGGGGTGCCAGAGTTGCCAGGGCTGCCTTCGGCAACTAGGGCACTGGAGTTGTCGGGGCAGCCTGTGGCAACTGGGGCACTAGAGTTGCCTGGGCCGCTCATGGCAGCTGGGGCACTGGAGTTCTCGGGGCAGTCTGGGGCAGCTGGAGCACTGGAGCTTTTGGGGCAGCCTCTGGCAACAGGGGTGCTGGAGTTGCCAGGGCAGCCTGGGGCGCCAGAGTTGCCTGGGCAGCCTGTGGCAACTGTGGCGCTGGAGATCTCTGTTCAGTCTGTGGTGACAACATCGGAGCTGTCAACGATGACCGTGTCGCAGTCCCTGGAGGTGCCCTCGACGACAGCGCTGGAATCCTATAATACGGTAGCACAGGAGCTGCCTACTACATTAGTGGGGGAGACTTCTGTAACAGTAGGAGTGGATCCCTTGATGGCCCCAGAATCCCATATATTAGCTTCTAACACCATGGAGACCCATATATTAGCATCCAACACCATGGACTCCCAAATGCTAGCGTCCAACACCATGGACTCCCAGATGCTAGCATCCAACACCATGGACTCCCAGATGTTAGCGTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCACTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCAAC
|
AACAGACTTGCTTAGATTCATGGCTCTAACAACCTTCATTGAAGTATGACTTATCTAACATTTTGTATTATGAAACAAACAATTAATAGAAAATGGTAAGTTTTGCTTTGGCCTATGTCAAGTGTTGATTTATTTTCTTCTGTAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGACGCCCAGGCTGGAGTGCAGTGGGGTGATCTCAGCTGACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTGTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCACACCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTTTTTTAGTAGAGACGGGGTTTTACCGTGTTAGCCAGGATGGTCTTGATCTCCTGGCCTCGTGATCCACACGTCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGTGCCCGGCCTTTTTTCTGTAGTCTTAATGGCTCAGATTTCTGATGAGCTTTTTTGGGGGTCCCTAAGATTTATCTAATTTGATATTGGCATTAGAGTAAATAAATCCCATCTGGTTGTTAAAGTTGAATACTCCCATCTCTTTAGGGTATGTAAATTCAAACCTTCTTAAGTTGTAAATTAAGGACTAAGAATTTCCTCTCTAAAATCAGTATTCTTTTCTAAAATAGAAACATTTGAAAAGTTATTTATTAGTGGTTTTAGAATAGTATTGGGGGAAAATGTTATCTCTTTAGGGTATGTAAATTCAAACTTTCTTAAGTTATAAGGACTAAGAATTTCCTCTCTAAAATCAGTATCCTTTTCTAAAACAGAAACATTTAAAAAGTTATTTTAGTGGTTTCAGAATAGTATTGGGGGAAAATATTATTTTTATTAGAATGTAACGTAGGCATGATAAGGTAAAATTTGAGTTCTCTATGAATATTTTATATTTGTTATTCAGATATTTTTATACTCTGTAGAAGCAATCACTAACCTTTGTTGAAAGCTTATTCTGTGCCAGGCATTATTTGATGTACTTTGCATGTTTTAACTCACTTTATCCTCTAACTCTAGAAGACACAAGTGTGTCAGTAATTTGGCCAAGACCATTAACCTAGTAAGTGATGAACTGATTGAGGATTCAAAAGTGGCAGTCTGTTCCAGAGCCAGTGCCATGTTGCTTCCTGTATAAACAAGGGTTAATAATCGCAAAAATTATATTATGTGGGTATTTTTAATAGAAACTGTAGCAACTAATAACATGAAATATATTCAGTGACAAAAGTAGTTTAAAAGTAATTTTGCTATGATTTGAGAGCTGGAGGGAATAATTATTTTAATAGAATTTAGTGAAACATGTCTTAATGTAATTCAAAGTAAGTTTTGGTGTTTAATAATTTATTTTTAACCCAGGCATTAGTTGTGGAAAGAATTATCAGAAAAGTAGTAGTCTCCAGGTTAACTGTTTTATGAAAAATAGTTTATTTGGTAACTTTTAATTTAACGTGAGGTGTTATACTGTGGGGTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTACAGTGGTGCAATTTCAGCTCACTGAAACCTCGACCTACTGGGTTCAAGTGATCCGCCTCAGCCTCCCAAATAGCTGGGACTACAGGTGCGCGTCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTTTTGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCTCAGAGTGCTAAGATTACAGGCGTGAGCCACTGTACTTGGCCTGTACTAAGGTGTTTTAACATGGAATGTAAATATGGGTTTATATGATTTAATCTAACTCTACTTTGGGGAATGTCTGACAAAATTAATTTCTATTACTTTTAGACTTGAAAGAGGGCTCCAGAAAAAGTAGATGCGTATCTGTACAAACAGATCCTACTGATGAAATTCCCACTAAAAAGTCAAAGAAGCATAAAAAGCACAAAAACAAAAAGAAGAAAAAGAAGAAAGAAAAGGAAAAAAATATAAAAGACAGCCAGAAGAATCTGAGTCAAAGACGAAATCTCATGATGATGGGAACATAGATTTAGAATCTGATTCCTTTTTAAAGTTTGATTCTGAACCTTCAGCTGTGGCGCTGGAGCTTCCTACAAGAGCATTTGGCCCATCTGAGACCAATGAATCCCCTGCAGTTGTGCTAGAACCTCCTGTAGTATCAATGGAGGTATCAGAGCCACACATCTTAGAAACTCTGAAGCCAGCTACAAAAACTGCAGAACTGTCAGTTGTATCTACATCAGTAATCTCAGAGCAGTCAGAGCAGTCTGTGGCAGTAATGCCAGAACCATCCATGACAAAGATTCTGGATTCCTTTGCAGCAGCACCAGTGCCTACTACAACACTGGTGTTGAAGTCATCTGAGCCAGTTGTAACAATGTCAGTGGAGTATCAGATGAAGTCTGTGCTGAAATCTGTGGAGAGCACATCTCCAGAGCCATCAAAGATCATGTTGGTAGAGCCCCCAGTAGCAAAAGTGTTAGAGCCTTCAGAAACCCTTGTGGTATCATCAGAGACACCTACTGAGGTGTACCCTGAGCCAAGCACATCAACAACAATGGATTTTCCAGAGTCATCTGCAATTGAAGCGCTAAGATTGCCAGAGCAGCCTGTAGACGTACCATCGGAGATTGCAGATTCATCCATGACAAGACCGCAGGAGTTGCCGGAGCTGCCTAAGACCACAGCGTTGGAGCTGCAGGAGTCGTCGGTGGCCTCAGCGATGGAGTTGCCGGGGCCACCTGCGACCTCCATGCCGGAGTTGCAGGGGCCCCCTGTGACTCCAGTGCTGGAGTTACCTGGGCCCTCTGCTACCCCGGTGCCAGAGTTGCCAGGGCCCCTTTCTACCCCAGTGCCTGAGTTGCCAGGGCCCCCTGCGACAGCAGTGCCTGAGTTGCCAGGGCCCTCTGTGACACCAGTGCCACAGTTGTCGCAGGAATTGCCAGGGCTTCCAGCACCATCCATGGGGTTGGAGCCACCACAGGAGGTACCAGAGCCACCTGTGATGGCACAGGAGTTGCCAGGGCTGCCTTTGGTGACAGCAGCAGTAGAGTTGCCAGAGCAGCCTGCGGTAACAGTAGCAATGGAGTTGACCGAACAACCTGTGACGACGACAGAGTTGGAGCAGCCTGTGGGGATGACAACGGTGGAACATCCTGGGCATCCTGAGGTGACAACGGCAACAGGGTTGCTGGGGCAGCCTGAGGCAACGATGGTGCTGGAGTTGCCAGGACAGCCAGTGGCAACGACAGCGCTGGAGTTGCCGGGGCAGCCTTCGGTGACTGGGGTGCCAGAGTTGCCAGGGCTGCCTTCGGCAACTAGGGCACTGGAGTTGTCGGGGCAGCCTGTGGCAACTGGGGCACTAGAGTTGCCTGGGCCGCTCATGGCAGCTGGGGCACTGGAGTTCTCGGGGCAGTCTGGGGCAGCTGGAGCACTGGAGCTTTTGGGGCAGCCTCTGGCAACAGGGGTGCTGGAGTTGCCAGGGCAGCCTGGGGCGCCAGAGTTGCCTGGGCAGCCTGTGGCAACTGTGGCGCTGGAGATCTCTGTTCAGTCTGTGGTGACAACATCGGAGCTGTCAACGATGACCGTGTCGCAGTCCCTGGAGGTGCCCTCGACGACAGCGCTGGAATCCTATAATACGGTAGCACAGGAGCTGCCTACTACATTAGTGGGGGAGACTTCTGTAACAGTAGGAGTGGATCCCTTGATGGCCCCAGAATCCCATATATTAGCTTCTAACACCATGGAGACCCATATATTAGCATCCAACACCATGGACTCCCAAATGCTAGCGTCCAACACCATGGACTCCCAGATGCTAGCATCCAACACCATGGACTCCCAGATGTTAGCGTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCACTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCAACN
|
pathogenic
| 317,691 |
Regarding the variant at chromosome 21 and position 33550498, affecting gene SON (SON DNA and RNA binding protein): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
benign
|
GAATGTAACGTAGGCATGATAAGGTAAAATTTGAGTTCTCTATGAATATTTTATATTTGTTATTCAGATATTTTTATACTCTGTAGAAGCAATCACTAACCTTTGTTGAAAGCTTATTCTGTGCCAGGCATTATTTGATGTACTTTGCATGTTTTAACTCACTTTATCCTCTAACTCTAGAAGACACAAGTGTGTCAGTAATTTGGCCAAGACCATTAACCTAGTAAGTGATGAACTGATTGAGGATTCAAAAGTGGCAGTCTGTTCCAGAGCCAGTGCCATGTTGCTTCCTGTATAAACAAGGGTTAATAATCGCAAAAATTATATTATGTGGGTATTTTTAATAGAAACTGTAGCAACTAATAACATGAAATATATTCAGTGACAAAAGTAGTTTAAAAGTAATTTTGCTATGATTTGAGAGCTGGAGGGAATAATTATTTTAATAGAATTTAGTGAAACATGTCTTAATGTAATTCAAAGTAAGTTTTGGTGTTTAATAATTTATTTTTAACCCAGGCATTAGTTGTGGAAAGAATTATCAGAAAAGTAGTAGTCTCCAGGTTAACTGTTTTATGAAAAATAGTTTATTTGGTAACTTTTAATTTAACGTGAGGTGTTATACTGTGGGGTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTACAGTGGTGCAATTTCAGCTCACTGAAACCTCGACCTACTGGGTTCAAGTGATCCGCCTCAGCCTCCCAAATAGCTGGGACTACAGGTGCGCGTCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTTTTGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCTCAGAGTGCTAAGATTACAGGCGTGAGCCACTGTACTTGGCCTGTACTAAGGTGTTTTAACATGGAATGTAAATATGGGTTTATATGATTTAATCTAACTCTACTTTGGGGAATGTCTGACAAAATTAATTTCTATTACTTTTAGACTTGAAAGAGGGCTCCAGAAAAAGTAGATGCGTATCTGTACAAACAGATCCTACTGATGAAATTCCCACTAAAAAGTCAAAGAAGCATAAAAAGCACAAAAACAAAAAGAAGAAAAAGAAGAAAGAAAAGGAAAAAAAATATAAAAGACAGCCAGAAGAATCTGAGTCAAAGACGAAATCTCATGATGATGGGAACATAGATTTAGAATCTGATTCCTTTTTAAAGTTTGATTCTGAACCTTCAGCTGTGGCGCTGGAGCTTCCTACAAGAGCATTTGGCCCATCTGAGACCAATGAATCCCCTGCAGTTGTGCTAGAACCTCCTGTAGTATCAATGGAGGTATCAGAGCCACACATCTTAGAAACTCTGAAGCCAGCTACAAAAACTGCAGAACTGTCAGTTGTATCTACATCAGTAATCTCAGAGCAGTCAGAGCAGTCTGTGGCAGTAATGCCAGAACCATCCATGACAAAGATTCTGGATTCCTTTGCAGCAGCACCAGTGCCTACTACAACACTGGTGTTGAAGTCATCTGAGCCAGTTGTAACAATGTCAGTGGAGTATCAGATGAAGTCTGTGCTGAAATCTGTGGAGAGCACATCTCCAGAGCCATCAAAGATCATGTTGGTAGAGCCCCCAGTAGCAAAAGTGTTAGAGCCTTCAGAAACCCTTGTGGTATCATCAGAGACACCTACTGAGGTGTACCCTGAGCCAAGCACATCAACAACAATGGATTTTCCAGAGTCATCTGCAATTGAAGCGCTAAGATTGCCAGAGCAGCCTGTAGACGTACCATCGGAGATTGCAGATTCATCCATGACAAGACCGCAGGAGTTGCCGGAGCTGCCTAAGACCACAGCGTTGGAGCTGCAGGAGTCGTCGGTGGCCTCAGCGATGGAGTTGCCGGGGCCACCTGCGACCTCCATGCCGGAGTTGCAGGGGCCCCCTGTGACTCCAGTGCTGGAGTTACCTGGGCCCTCTGCTACCCCGGTGCCAGAGTTGCCAGGGCCCCTTTCTACCCCAGTGCCTGAGTTGCCAGGGCCCCCTGCGACAGCAGTGCCTGAGTTGCCAGGGCCCTCTGTGACACCAGTGCCACAGTTGTCGCAGGAATTGCCAGGGCTTCCAGCACCATCCATGGGGTTGGAGCCACCACAGGAGGTACCAGAGCCACCTGTGATGGCACAGGAGTTGCCAGGGCTGCCTTTGGTGACAGCAGCAGTAGAGTTGCCAGAGCAGCCTGCGGTAACAGTAGCAATGGAGTTGACCGAACAACCTGTGACGACGACAGAGTTGGAGCAGCCTGTGGGGATGACAACGGTGGAACATCCTGGGCATCCTGAGGTGACAACGGCAACAGGGTTGCTGGGGCAGCCTGAGGCAACGATGGTGCTGGAGTTGCCAGGACAGCCAGTGGCAACGACAGCGCTGGAGTTGCCGGGGCAGCCTTCGGTGACTGGGGTGCCAGAGTTGCCAGGGCTGCCTTCGGCAACTAGGGCACTGGAGTTGTCGGGGCAGCCTGTGGCAACTGGGGCACTAGAGTTGCCTGGGCCGCTCATGGCAGCTGGGGCACTGGAGTTCTCGGGGCAGTCTGGGGCAGCTGGAGCACTGGAGCTTTTGGGGCAGCCTCTGGCAACAGGGGTGCTGGAGTTGCCAGGGCAGCCTGGGGCGCCAGAGTTGCCTGGGCAGCCTGTGGCAACTGTGGCGCTGGAGATCTCTGTTCAGTCTGTGGTGACAACATCGGAGCTGTCAACGATGACCGTGTCGCAGTCCCTGGAGGTGCCCTCGACGACAGCGCTGGAATCCTATAATACGGTAGCACAGGAGCTGCCTACTACATTAGTGGGGGAGACTTCTGTAACAGTAGGAGTGGATCCCTTGATGGCCCCAGAATCCCATATATTAGCTTCTAACACCATGGAGACCCATATATTAGCATCCAACACCATGGACTCCCAAATGCTAGCGTCCAACACCATGGACTCCCAGATGCTAGCATCCAACACCATGGACTCCCAGATGTTAGCGTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCACTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCACCATGGATTCTCAGATGTTAGCAACCAGCACCATGGACTCCCAGATGTTAGCAACTAGCTCAATGGATTCCCAGATGTTAGCATCTGGCACTATGGACTCTCAAATGTTAGCTTCTGGCACCATGGATGCTCAGATGTTAGCGTCTGGTACCATGGATGCCCAGATGTTAGCGTCTAGTACCCAAGATTCTGCTATGTTGGGTTCAAAATCTCCTGATCCCTATAGGTTAGCTCAGGATCCTTACAGGTTAGCTCAGGATCCCTATAGGTTGGGCCATGACCCCTATAGATTAGGTCATGATGCTTACAGGTTAGGACAAGACCCTTATAGATTAGGCCATGATCCCTACAGACTAACTCCTGATCCCTATAGGATGTCACCTAGACCCTACAGGATAGCACCCAGGTCCTATAGAATAGCACCCAGGCCATATAGGTTAGCACCTAGACCCCTGATGTTAGCATCTAGACGTTCTATGATGATGTCCTATGCTGCAGAACGTTCCATGATGTCATCTTACGAACGCTCTATGATGTCTTATGAGCGGTCTATGATGTCCCCTATGGCTGAACGCTCTATGATGTCAGCCTACGAGCGCTCTATGATGTCAGCCTACGAGCGCTCTATGATGTCCCCTATGGCTGAGCGCTCTATGATGTCAGCTTATGAACGCTCCATGATGTCAGCTTATGAACGCTCCATGATGTCCCCAATGGCTGATCGATCTATGATGTCCATGGGTGCTGACCGGTCTATGATGTCGTCATACTCTGCTGCTGACCGGTCTATGATGTC
|
GAATGTAACGTAGGCATGATAAGGTAAAATTTGAGTTCTCTATGAATATTTTATATTTGTTATTCAGATATTTTTATACTCTGTAGAAGCAATCACTAACCTTTGTTGAAAGCTTATTCTGTGCCAGGCATTATTTGATGTACTTTGCATGTTTTAACTCACTTTATCCTCTAACTCTAGAAGACACAAGTGTGTCAGTAATTTGGCCAAGACCATTAACCTAGTAAGTGATGAACTGATTGAGGATTCAAAAGTGGCAGTCTGTTCCAGAGCCAGTGCCATGTTGCTTCCTGTATAAACAAGGGTTAATAATCGCAAAAATTATATTATGTGGGTATTTTTAATAGAAACTGTAGCAACTAATAACATGAAATATATTCAGTGACAAAAGTAGTTTAAAAGTAATTTTGCTATGATTTGAGAGCTGGAGGGAATAATTATTTTAATAGAATTTAGTGAAACATGTCTTAATGTAATTCAAAGTAAGTTTTGGTGTTTAATAATTTATTTTTAACCCAGGCATTAGTTGTGGAAAGAATTATCAGAAAAGTAGTAGTCTCCAGGTTAACTGTTTTATGAAAAATAGTTTATTTGGTAACTTTTAATTTAACGTGAGGTGTTATACTGTGGGGTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTACAGTGGTGCAATTTCAGCTCACTGAAACCTCGACCTACTGGGTTCAAGTGATCCGCCTCAGCCTCCCAAATAGCTGGGACTACAGGTGCGCGTCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTTTTGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCTCAGAGTGCTAAGATTACAGGCGTGAGCCACTGTACTTGGCCTGTACTAAGGTGTTTTAACATGGAATGTAAATATGGGTTTATATGATTTAATCTAACTCTACTTTGGGGAATGTCTGACAAAATTAATTTCTATTACTTTTAGACTTGAAAGAGGGCTCCAGAAAAAGTAGATGCGTATCTGTACAAACAGATCCTACTGATGAAATTCCCACTAAAAAGTCAAAGAAGCATAAAAAGCACAAAAACAAAAAGAAGAAAAAGAAGAAAGAAAAGGAAAAAAAATATAAAAGACAGCCAGAAGAATCTGAGTCAAAGACGAAATCTCATGATGATGGGAACATAGATTTAGAATCTGATTCCTTTTTAAAGTTTGATTCTGAACCTTCAGCTGTGGCGCTGGAGCTTCCTACAAGAGCATTTGGCCCATCTGAGACCAATGAATCCCCTGCAGTTGTGCTAGAACCTCCTGTAGTATCAATGGAGGTATCAGAGCCACACATCTTAGAAACTCTGAAGCCAGCTACAAAAACTGCAGAACTGTCAGTTGTATCTACATCAGTAATCTCAGAGCAGTCAGAGCAGTCTGTGGCAGTAATGCCAGAACCATCCATGACAAAGATTCTGGATTCCTTTGCAGCAGCACCAGTGCCTACTACAACACTGGTGTTGAAGTCATCTGAGCCAGTTGTAACAATGTCAGTGGAGTATCAGATGAAGTCTGTGCTGAAATCTGTGGAGAGCACATCTCCAGAGCCATCAAAGATCATGTTGGTAGAGCCCCCAGTAGCAAAAGTGTTAGAGCCTTCAGAAACCCTTGTGGTATCATCAGAGACACCTACTGAGGTGTACCCTGAGCCAAGCACATCAACAACAATGGATTTTCCAGAGTCATCTGCAATTGAAGCGCTAAGATTGCCAGAGCAGCCTGTAGACGTACCATCGGAGATTGCAGATTCATCCATGACAAGACCGCAGGAGTTGCCGGAGCTGCCTAAGACCACAGCGTTGGAGCTGCAGGAGTCGTCGGTGGCCTCAGCGATGGAGTTGCCGGGGCCACCTGCGACCTCCATGCCGGAGTTGCAGGGGCCCCCTGTGACTCCAGTGCTGGAGTTACCTGGGCCCTCTGCTACCCCGGTGCCAGAGTTGCCAGGGCCCCTTTCTACCCCAGTGCCTGAGTTGCCAGGGCCCTCTGTGACACCAGTGCCACAGTTGTCGCAGGAATTGCCAGGGCTTCCAGCACCATCCATGGGGTTGGAGCCACCACAGGAGGTACCAGAGCCACCTGTGATGGCACAGGAGTTGCCAGGGCTGCCTTTGGTGACAGCAGCAGTAGAGTTGCCAGAGCAGCCTGCGGTAACAGTAGCAATGGAGTTGACCGAACAACCTGTGACGACGACAGAGTTGGAGCAGCCTGTGGGGATGACAACGGTGGAACATCCTGGGCATCCTGAGGTGACAACGGCAACAGGGTTGCTGGGGCAGCCTGAGGCAACGATGGTGCTGGAGTTGCCAGGACAGCCAGTGGCAACGACAGCGCTGGAGTTGCCGGGGCAGCCTTCGGTGACTGGGGTGCCAGAGTTGCCAGGGCTGCCTTCGGCAACTAGGGCACTGGAGTTGTCGGGGCAGCCTGTGGCAACTGGGGCACTAGAGTTGCCTGGGCCGCTCATGGCAGCTGGGGCACTGGAGTTCTCGGGGCAGTCTGGGGCAGCTGGAGCACTGGAGCTTTTGGGGCAGCCTCTGGCAACAGGGGTGCTGGAGTTGCCAGGGCAGCCTGGGGCGCCAGAGTTGCCTGGGCAGCCTGTGGCAACTGTGGCGCTGGAGATCTCTGTTCAGTCTGTGGTGACAACATCGGAGCTGTCAACGATGACCGTGTCGCAGTCCCTGGAGGTGCCCTCGACGACAGCGCTGGAATCCTATAATACGGTAGCACAGGAGCTGCCTACTACATTAGTGGGGGAGACTTCTGTAACAGTAGGAGTGGATCCCTTGATGGCCCCAGAATCCCATATATTAGCTTCTAACACCATGGAGACCCATATATTAGCATCCAACACCATGGACTCCCAAATGCTAGCGTCCAACACCATGGACTCCCAGATGCTAGCATCCAACACCATGGACTCCCAGATGTTAGCGTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCTCCATGGACTCCCAGATGTTAGCAACTAGCACTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCACCATGGATTCTCAGATGTTAGCAACCAGCACCATGGACTCCCAGATGTTAGCAACTAGCTCAATGGATTCCCAGATGTTAGCATCTGGCACTATGGACTCTCAAATGTTAGCTTCTGGCACCATGGATGCTCAGATGTTAGCGTCTGGTACCATGGATGCCCAGATGTTAGCGTCTAGTACCCAAGATTCTGCTATGTTGGGTTCAAAATCTCCTGATCCCTATAGGTTAGCTCAGGATCCTTACAGGTTAGCTCAGGATCCCTATAGGTTGGGCCATGACCCCTATAGATTAGGTCATGATGCTTACAGGTTAGGACAAGACCCTTATAGATTAGGCCATGATCCCTACAGACTAACTCCTGATCCCTATAGGATGTCACCTAGACCCTACAGGATAGCACCCAGGTCCTATAGAATAGCACCCAGGCCATATAGGTTAGCACCTAGACCCCTGATGTTAGCATCTAGACGTTCTATGATGATGTCCTATGCTGCAGAACGTTCCATGATGTCATCTTACGAACGCTCTATGATGTCTTATGAGCGGTCTATGATGTCCCCTATGGCTGAACGCTCTATGATGTCAGCCTACGAGCGCTCTATGATGTCAGCCTACGAGCGCTCTATGATGTCCCCTATGGCTGAGCGCTCTATGATGTCAGCTTATGAACGCTCCATGATGTCAGCTTATGAACGCTCCATGATGTCCCCAATGGCTGATCGATCTATGATGTCCATGGGTGCTGACCGGTCTATGATGTCGTCATACTCTGCTGCTGACCGGTCTATGATGTCNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
benign
| 317,709 |
Subsets and Splits
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