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
|
|---|---|---|---|---|---|
Is the variant located on chromosome 21 at position 37478166, gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
benign
|
TCAGCTACAATATTATAGTAGCTGCACTACGATAATATTTCGGACCACCCGGATGGTGATTTTCCTGTTCTTTAACTGGCTCTGGGACCTTGGTCAAGTTCTTTAACGTTGGAGACTCTGGTTTCGCGTGTGTAAAATGGTCACAGGAATGGTATTTATCTCCCTTGAGATTGTTGAGGGGATTGCATGGAAGACTTGTAAAAATATGCATGCTAAAAACATGTTGTTCAGTAAATACCTGCTACTGTTATTGTTACTTTATTATTAAGTTATTCGGTTGACTCTACCAATGACTTATACTTCCTGTCAACTTTTATTATAGCAGTAATGAAGCATTGCACTGATTCAGATTTTGTGAAACCTCACATTTAGGCTGCACTCCACCAGCCCAAGAAAGGGGCTTACTGAATAAACTACCTACATGAAAACAATGCTGGGAACTTAAATTAAAAAAGAAAAGACATTTAAGGGAAACCTTTCATCACCCTAAATGCTTACAGCATTCATTCACAGAAAAACTGACGTTTATTACCCATATTAATTTATGCATTAAGTCCTTAAGGAATAGTATAAAAATATTCTGTGAACTTAGCATTAGCTACTGTTTAGAAAAGTAAGACTGTCTATTTGAAAAATTAAATCAGATCATCTTCTTAATTCTGATGATTTTTGTCAGACAAATAGTATAATCACCAAGGGTTCCCCCCCCCCCCAACCTTATTTGGAATTAAGAAGCACAGGACTTTGAGAAGAGATAGTGTTATTTCAGTAAATGGGTGAATTTGCCCTCTGGGTAACAACTTTTTAGAGTTTGAGTATACATGCAGAAGAAACCAGTGTTAATGTTGGTTCATGATAAAGCGCACGTAGTAAAGTTCATGATTTACAGCACGTAAAATGCTGTAACAATTCTGTCTTTTCGGACCACATGGATGGTGATTTTTCCTGTTCTGTCCACTGGTACAAACCTCCCCTCTTCTCTTTTTTGGTGTGGGTTAGGTTAACAATTATACCATGACTCCACACATTTTTGCGAGGTCTTAGTATGATGTGTTTACTGTCACTCTGCCCCTCCGATTGACCCGAGTGTCCTTGGAGAGATGTTGTGTCAGGGTCTTCTGGCTCATTTCCCAGCACAAATGTCCAGAAGAGTTGGGCAGGAACACAAAGATGGGCCAGGGGGAATGGCTGTGACCACCTTGATGGAAATAATTGGTTTTGAGGATCTGTTGATTGCAAGAACCCCCATTGGGAATCCTTTGACTGAGGCATGGCACTTGCTGGAGCAGTGGCACTTGGACAGCAATCCAGGATCATTGATGCTAGCCACAGCACTCCTGGGGTGTGTGTATAGAGGGGGTGCATGCCCCTGCTCTATCATCTGTTGTAATTGCTGTGGAAACGGTCTAGCAGGATGCTCACGGTGGAACCCCTCATTGCCTGTCAGATGGTGTCGAGAGCCATGAGTTGGGATCAGGGAAGGGGACTGTGAGGGCAAGCCTTGGTTAGGGGCAGATATTTGTCAGAGGGCAGCAGGGTCTGGAGACATTAGGAGCTGAATTTCTTCTTATTAGGAGCAGTTGGAGGGAATGGTGCTCTGCTGCCAGCCCCCTTTTTTGGTGCCAGCTGGGTCCTGAAATCCTATGTTAAGGAAGCTGAAAGTTGCCTCTGAGGGCTGGGTTTATCTTTGTCTGCTAGTTGTGAACCTGGTCAGGTTTTAGGAATAATTCAGAAAAAAATTTTCTTTGGGCTAATTGTGTGGTAGAGAAGCCCTCGTGGGCAACATCCTGTGTGTCTCCTAGATTGGCGTATGTCTGCATTTCTACCACTTTAAATTTGGCGGAATAGGATCAAAGCCTCAGGCAGCTGGGCATATTATCCTCTAATTTCATTGATTTGTTCTAGTGGTTGTCTTTATTGGAATCCACATGAAAGGGAACTTTGAGAGAGAATGTATAATCATCTAATGTGTAGCTGTCTTTAAAAAAGTAGATACATGCAGGTTACAGAAGAGGGAATTTATATCTTATAGTTAAAGTGCTAGTCTTTTCTGTCTATTTAAGGTGATGCCTGATATTGTCATGTTACAGAGGCGGATGCCCCAAACCTTCCGTGACCCAGCAACTGCTCCCCTGAGAAAACTTTCTGTTGACTTGATCAAAACATACAAGCATATTAATGAGGTAAGACTTGATTTGTTATAATAACATCTATCTTGCAGTATGTCATTGAGAAAAAAAGTGTGACCTATTTACCCTAAACTTTTTTTTCATTCCTAGTAGTTGTCATATTGATGATTATTATGAAGACTAATGATTTAGAAATAATATTACAATTATGTAAAAGATATATTAACAAGGACTGCAGAGTATAAAGATAATTGTGGATAACTTGATTTTTTTAAGGTTGTATTTAATATACTGTTATTTCTTTTTTTAATTTTTATTTTTTGTTTTTTATTTCATTTGAGTTCTGTAATAACTTATTCAAAACAAGAAAGGGGAATAAGGACTCTAAAAGTATATATGTGTTAGAATTTTTGCTAGAATTTTTATATATTTGTTTCTGCTTTTGCCATGGGTGTCAGGAAGCTCTGAAATATGTTTAATACCTAGTTACAGGCATTTGGCCTAGTTTATTTGATCTATCTATATTTCTGTGATTTTATTGTCTTTTAACTTTTTATGTGTGTTCTTTTATCTATATCTTTTTATGATAAGATGTCCAGAAGCTTTTTTGTTGTAAGTAAATAAGATAAAAAACAGACACAGCACTTTGAATTCCTTGCCTGTACTTGGTGTTTTGCCACCGAAAATTTTTCTGGTGTCTTGGACCATTGGCTTCATTGCCATTTGCTTGTGGCTTCAACTCTGTCTCCAAAGTTAATTATTAAAGGAGCATTTCTGGAGAAGAATCCATGCTTTCTTTCCTCTTCTAGTGGGAGCCCTGCACCCTTTCATGTTGAAGGCTTGTCCTTTGCCAGCTTTAGAGCTGCTTAGCTGAAAAGTGAAAAGATGTTCTTAGGTACATGCAAATTTTATAGCAATTTAATGTTATTTAATGACAGTATTACTACATTACAGTGGCAGTGTGGCAACGTAAAATTAGAATGAACTCTGTGAGGAACATTTCTGAGTTAGATTTTGTACACATTTATATATTATAAACATGTTCCAGACTAGCTTGTGATTATCTGAATATATCTGATAAATTGTTGATAACAGTATATTAATTTCAATTTGTTATTATCTGATAAATTGTTAACAAAGCTACAGTTAAACTGTTGTTAACAGTAGCTTTCTTGGAGCTTGTTTTTAAGTGTCTTAACCACGTTATAAAGTAGACTTTTTCTGATGTTATTCCATGCAGTGTAATTTATAATTTCGCCAAAGTTAGTTTACCAGTTACCTGGACTGTTTCCTAGTTCATCTAGTATTTTTTTTTTTTACTAGTCTTAGAAACAGTGTTGGTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTTTGTCACCAAGGCTGCCAGCCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCTCCGCCTCCCAGGTTCATACCTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCCAGAATCAGTGTTAAAGAAAATAACTCAGCCTGTGATTAACCATAGGCGTATGGTCTTTGGGAGTGGGGGCTAAGAGGCCATAGCTGTTTTTCATTAATCGTTATATTTTTATAGGTTTAAAAACTGGGCATGTCTCAGAGGGCCTATTTATTTTAGTAAAACATCACTTGGTCTACATCTGAACTTATTTTAAAAATATGTTGCCATAAAATCAAATATAAATAAATTCATGCAAGTTACAGAAGAGGGAATTTATATCAATAAATTCCCTTTATATCCCAAATAT
|
TCAGCTACAATATTATAGTAGCTGCACTACGATAATATTTCGGACCACCCGGATGGTGATTTTCCTGTTCTTTAACTGGCTCTGGGACCTTGGTCAAGTTCTTTAACGTTGGAGACTCTGGTTTCGCGTGTGTAAAATGGTCACAGGAATGGTATTTATCTCCCTTGAGATTGTTGAGGGGATTGCATGGAAGACTTGTAAAAATATGCATGCTAAAAACATGTTGTTCAGTAAATACCTGCTACTGTTATTGTTACTTTATTATTAAGTTATTCGGTTGACTCTACCAATGACTTATACTTCCTGTCAACTTTTATTATAGCAGTAATGAAGCATTGCACTGATTCAGATTTTGTGAAACCTCACATTTAGGCTGCACTCCACCAGCCCAAGAAAGGGGCTTACTGAATAAACTACCTACATGAAAACAATGCTGGGAACTTAAATTAAAAAAGAAAAGACATTTAAGGGAAACCTTTCATCACCCTAAATGCTTACAGCATTCATTCACAGAAAAACTGACGTTTATTACCCATATTAATTTATGCATTAAGTCCTTAAGGAATAGTATAAAAATATTCTGTGAACTTAGCATTAGCTACTGTTTAGAAAAGTAAGACTGTCTATTTGAAAAATTAAATCAGATCATCTTCTTAATTCTGATGATTTTTGTCAGACAAATAGTATAATCACCAAGGGTTCCCCCCCCCCCCAACCTTATTTGGAATTAAGAAGCACAGGACTTTGAGAAGAGATAGTGTTATTTCAGTAAATGGGTGAATTTGCCCTCTGGGTAACAACTTTTTAGAGTTTGAGTATACATGCAGAAGAAACCAGTGTTAATGTTGGTTCATGATAAAGCGCACGTAGTAAAGTTCATGATTTACAGCACGTAAAATGCTGTAACAATTCTGTCTTTTCGGACCACATGGATGGTGATTTTTCCTGTTCTGTCCACTGGTACAAACCTCCCCTCTTCTCTTTTTTGGTGTGGGTTAGGTTAACAATTATACCATGACTCCACACATTTTTGCGAGGTCTTAGTATGATGTGTTTACTGTCACTCTGCCCCTCCGATTGACCCGAGTGTCCTTGGAGAGATGTTGTGTCAGGGTCTTCTGGCTCATTTCCCAGCACAAATGTCCAGAAGAGTTGGGCAGGAACACAAAGATGGGCCAGGGGGAATGGCTGTGACCACCTTGATGGAAATAATTGGTTTTGAGGATCTGTTGATTGCAAGAACCCCCATTGGGAATCCTTTGACTGAGGCATGGCACTTGCTGGAGCAGTGGCACTTGGACAGCAATCCAGGATCATTGATGCTAGCCACAGCACTCCTGGGGTGTGTGTATAGAGGGGGTGCATGCCCCTGCTCTATCATCTGTTGTAATTGCTGTGGAAACGGTCTAGCAGGATGCTCACGGTGGAACCCCTCATTGCCTGTCAGATGGTGTCGAGAGCCATGAGTTGGGATCAGGGAAGGGGACTGTGAGGGCAAGCCTTGGTTAGGGGCAGATATTTGTCAGAGGGCAGCAGGGTCTGGAGACATTAGGAGCTGAATTTCTTCTTATTAGGAGCAGTTGGAGGGAATGGTGCTCTGCTGCCAGCCCCCTTTTTTGGTGCCAGCTGGGTCCTGAAATCCTATGTTAAGGAAGCTGAAAGTTGCCTCTGAGGGCTGGGTTTATCTTTGTCTGCTAGTTGTGAACCTGGTCAGGTTTTAGGAATAATTCAGAAAAAAATTTTCTTTGGGCTAATTGTGTGGTAGAGAAGCCCTCGTGGGCAACATCCTGTGTGTCTCCTAGATTGGCGTATGTCTGCATTTCTACCACTTTAAATTTGGCGGAATAGGATCAAAGCCTCAGGCAGCTGGGCATATTATCCTCTAATTTCATTGATTTGTTCTAGTGGTTGTCTTTATTGGAATCCACATGAAAGGGAACTTTGAGAGAGAATGTATAATCATCTAATGTGTAGCTGTCTTTAAAAAAGTAGATACATGCAGGTTACAGAAGAGGGAATTTATATCTTATAGTTAAAGTGCTAGTCTTTTCTATTTAAGGTGATGCCTGATATTGTCATGTTACAGAGGCGGATGCCCCAAACCTTCCGTGACCCAGCAACTGCTCCCCTGAGAAAACTTTCTGTTGACTTGATCAAAACATACAAGCATATTAATGAGGTAAGACTTGATTTGTTATAATAACATCTATCTTGCAGTATGTCATTGAGAAAAAAAGTGTGACCTATTTACCCTAAACTTTTTTTTCATTCCTAGTAGTTGTCATATTGATGATTATTATGAAGACTAATGATTTAGAAATAATATTACAATTATGTAAAAGATATATTAACAAGGACTGCAGAGTATAAAGATAATTGTGGATAACTTGATTTTTTTAAGGTTGTATTTAATATACTGTTATTTCTTTTTTTAATTTTTATTTTTTGTTTTTTATTTCATTTGAGTTCTGTAATAACTTATTCAAAACAAGAAAGGGGAATAAGGACTCTAAAAGTATATATGTGTTAGAATTTTTGCTAGAATTTTTATATATTTGTTTCTGCTTTTGCCATGGGTGTCAGGAAGCTCTGAAATATGTTTAATACCTAGTTACAGGCATTTGGCCTAGTTTATTTGATCTATCTATATTTCTGTGATTTTATTGTCTTTTAACTTTTTATGTGTGTTCTTTTATCTATATCTTTTTATGATAAGATGTCCAGAAGCTTTTTTGTTGTAAGTAAATAAGATAAAAAACAGACACAGCACTTTGAATTCCTTGCCTGTACTTGGTGTTTTGCCACCGAAAATTTTTCTGGTGTCTTGGACCATTGGCTTCATTGCCATTTGCTTGTGGCTTCAACTCTGTCTCCAAAGTTAATTATTAAAGGAGCATTTCTGGAGAAGAATCCATGCTTTCTTTCCTCTTCTAGTGGGAGCCCTGCACCCTTTCATGTTGAAGGCTTGTCCTTTGCCAGCTTTAGAGCTGCTTAGCTGAAAAGTGAAAAGATGTTCTTAGGTACATGCAAATTTTATAGCAATTTAATGTTATTTAATGACAGTATTACTACATTACAGTGGCAGTGTGGCAACGTAAAATTAGAATGAACTCTGTGAGGAACATTTCTGAGTTAGATTTTGTACACATTTATATATTATAAACATGTTCCAGACTAGCTTGTGATTATCTGAATATATCTGATAAATTGTTGATAACAGTATATTAATTTCAATTTGTTATTATCTGATAAATTGTTAACAAAGCTACAGTTAAACTGTTGTTAACAGTAGCTTTCTTGGAGCTTGTTTTTAAGTGTCTTAACCACGTTATAAAGTAGACTTTTTCTGATGTTATTCCATGCAGTGTAATTTATAATTTCGCCAAAGTTAGTTTACCAGTTACCTGGACTGTTTCCTAGTTCATCTAGTATTTTTTTTTTTTACTAGTCTTAGAAACAGTGTTGGTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTTTGTCACCAAGGCTGCCAGCCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCTCCGCCTCCCAGGTTCATACCTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCCAGAATCAGTGTTAAAGAAAATAACTCAGCCTGTGATTAACCATAGGCGTATGGTCTTTGGGAGTGGGGGCTAAGAGGCCATAGCTGTTTTTCATTAATCGTTATATTTTTATAGGTTTAAAAACTGGGCATGTCTCAGAGGGCCTATTTATTTTAGTAAAACATCACTTGGTCTACATCTGAACTTATTTTAAAAATATGTTGCCATAAAATCAAATATAAATAAATTCATGCAAGTTACAGAAGAGGGAATTTATATCAATAAATTCCCTTTATATCCCAAATATNNNN
|
benign
| 318,883 |
The chromosome 21, position 37478249 genetic variant in gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['DYRK1A-related_intellectual_disability_syndrome']
|
GGGACCTTGGTCAAGTTCTTTAACGTTGGAGACTCTGGTTTCGCGTGTGTAAAATGGTCACAGGAATGGTATTTATCTCCCTTGAGATTGTTGAGGGGATTGCATGGAAGACTTGTAAAAATATGCATGCTAAAAACATGTTGTTCAGTAAATACCTGCTACTGTTATTGTTACTTTATTATTAAGTTATTCGGTTGACTCTACCAATGACTTATACTTCCTGTCAACTTTTATTATAGCAGTAATGAAGCATTGCACTGATTCAGATTTTGTGAAACCTCACATTTAGGCTGCACTCCACCAGCCCAAGAAAGGGGCTTACTGAATAAACTACCTACATGAAAACAATGCTGGGAACTTAAATTAAAAAAGAAAAGACATTTAAGGGAAACCTTTCATCACCCTAAATGCTTACAGCATTCATTCACAGAAAAACTGACGTTTATTACCCATATTAATTTATGCATTAAGTCCTTAAGGAATAGTATAAAAATATTCTGTGAACTTAGCATTAGCTACTGTTTAGAAAAGTAAGACTGTCTATTTGAAAAATTAAATCAGATCATCTTCTTAATTCTGATGATTTTTGTCAGACAAATAGTATAATCACCAAGGGTTCCCCCCCCCCCCAACCTTATTTGGAATTAAGAAGCACAGGACTTTGAGAAGAGATAGTGTTATTTCAGTAAATGGGTGAATTTGCCCTCTGGGTAACAACTTTTTAGAGTTTGAGTATACATGCAGAAGAAACCAGTGTTAATGTTGGTTCATGATAAAGCGCACGTAGTAAAGTTCATGATTTACAGCACGTAAAATGCTGTAACAATTCTGTCTTTTCGGACCACATGGATGGTGATTTTTCCTGTTCTGTCCACTGGTACAAACCTCCCCTCTTCTCTTTTTTGGTGTGGGTTAGGTTAACAATTATACCATGACTCCACACATTTTTGCGAGGTCTTAGTATGATGTGTTTACTGTCACTCTGCCCCTCCGATTGACCCGAGTGTCCTTGGAGAGATGTTGTGTCAGGGTCTTCTGGCTCATTTCCCAGCACAAATGTCCAGAAGAGTTGGGCAGGAACACAAAGATGGGCCAGGGGGAATGGCTGTGACCACCTTGATGGAAATAATTGGTTTTGAGGATCTGTTGATTGCAAGAACCCCCATTGGGAATCCTTTGACTGAGGCATGGCACTTGCTGGAGCAGTGGCACTTGGACAGCAATCCAGGATCATTGATGCTAGCCACAGCACTCCTGGGGTGTGTGTATAGAGGGGGTGCATGCCCCTGCTCTATCATCTGTTGTAATTGCTGTGGAAACGGTCTAGCAGGATGCTCACGGTGGAACCCCTCATTGCCTGTCAGATGGTGTCGAGAGCCATGAGTTGGGATCAGGGAAGGGGACTGTGAGGGCAAGCCTTGGTTAGGGGCAGATATTTGTCAGAGGGCAGCAGGGTCTGGAGACATTAGGAGCTGAATTTCTTCTTATTAGGAGCAGTTGGAGGGAATGGTGCTCTGCTGCCAGCCCCCTTTTTTGGTGCCAGCTGGGTCCTGAAATCCTATGTTAAGGAAGCTGAAAGTTGCCTCTGAGGGCTGGGTTTATCTTTGTCTGCTAGTTGTGAACCTGGTCAGGTTTTAGGAATAATTCAGAAAAAAATTTTCTTTGGGCTAATTGTGTGGTAGAGAAGCCCTCGTGGGCAACATCCTGTGTGTCTCCTAGATTGGCGTATGTCTGCATTTCTACCACTTTAAATTTGGCGGAATAGGATCAAAGCCTCAGGCAGCTGGGCATATTATCCTCTAATTTCATTGATTTGTTCTAGTGGTTGTCTTTATTGGAATCCACATGAAAGGGAACTTTGAGAGAGAATGTATAATCATCTAATGTGTAGCTGTCTTTAAAAAAGTAGATACATGCAGGTTACAGAAGAGGGAATTTATATCTTATAGTTAAAGTGCTAGTCTTTTCTGTCTATTTAAGGTGATGCCTGATATTGTCATGTTACAGAGGCGGATGCCCCAAACCTTCCGTGACCCAGCAACTGCTCCCCTGAGAAAACTTTCTGTTGACTTGATCAAAACATACAAGCATATTAATGAGGTAAGACTTGATTTGTTATAATAACATCTATCTTGCAGTATGTCATTGAGAAAAAAAGTGTGACCTATTTACCCTAAACTTTTTTTTCATTCCTAGTAGTTGTCATATTGATGATTATTATGAAGACTAATGATTTAGAAATAATATTACAATTATGTAAAAGATATATTAACAAGGACTGCAGAGTATAAAGATAATTGTGGATAACTTGATTTTTTTAAGGTTGTATTTAATATACTGTTATTTCTTTTTTTAATTTTTATTTTTTGTTTTTTATTTCATTTGAGTTCTGTAATAACTTATTCAAAACAAGAAAGGGGAATAAGGACTCTAAAAGTATATATGTGTTAGAATTTTTGCTAGAATTTTTATATATTTGTTTCTGCTTTTGCCATGGGTGTCAGGAAGCTCTGAAATATGTTTAATACCTAGTTACAGGCATTTGGCCTAGTTTATTTGATCTATCTATATTTCTGTGATTTTATTGTCTTTTAACTTTTTATGTGTGTTCTTTTATCTATATCTTTTTATGATAAGATGTCCAGAAGCTTTTTTGTTGTAAGTAAATAAGATAAAAAACAGACACAGCACTTTGAATTCCTTGCCTGTACTTGGTGTTTTGCCACCGAAAATTTTTCTGGTGTCTTGGACCATTGGCTTCATTGCCATTTGCTTGTGGCTTCAACTCTGTCTCCAAAGTTAATTATTAAAGGAGCATTTCTGGAGAAGAATCCATGCTTTCTTTCCTCTTCTAGTGGGAGCCCTGCACCCTTTCATGTTGAAGGCTTGTCCTTTGCCAGCTTTAGAGCTGCTTAGCTGAAAAGTGAAAAGATGTTCTTAGGTACATGCAAATTTTATAGCAATTTAATGTTATTTAATGACAGTATTACTACATTACAGTGGCAGTGTGGCAACGTAAAATTAGAATGAACTCTGTGAGGAACATTTCTGAGTTAGATTTTGTACACATTTATATATTATAAACATGTTCCAGACTAGCTTGTGATTATCTGAATATATCTGATAAATTGTTGATAACAGTATATTAATTTCAATTTGTTATTATCTGATAAATTGTTAACAAAGCTACAGTTAAACTGTTGTTAACAGTAGCTTTCTTGGAGCTTGTTTTTAAGTGTCTTAACCACGTTATAAAGTAGACTTTTTCTGATGTTATTCCATGCAGTGTAATTTATAATTTCGCCAAAGTTAGTTTACCAGTTACCTGGACTGTTTCCTAGTTCATCTAGTATTTTTTTTTTTTACTAGTCTTAGAAACAGTGTTGGTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTTTGTCACCAAGGCTGCCAGCCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCTCCGCCTCCCAGGTTCATACCTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCCAGAATCAGTGTTAAAGAAAATAACTCAGCCTGTGATTAACCATAGGCGTATGGTCTTTGGGAGTGGGGGCTAAGAGGCCATAGCTGTTTTTCATTAATCGTTATATTTTTATAGGTTTAAAAACTGGGCATGTCTCAGAGGGCCTATTTATTTTAGTAAAACATCACTTGGTCTACATCTGAACTTATTTTAAAAATATGTTGCCATAAAATCAAATATAAATAAATTCATGCAAGTTACAGAAGAGGGAATTTATATCAATAAATTCCCTTTATATCCCAAATATAAAGTTGGGATTGACTGGAAGGGGGCATGAGAGAACTTGAACTTGAGGGACATGAAAATGTTACTTGGCTGTTTGGCATTTGG
|
GGGACCTTGGTCAAGTTCTTTAACGTTGGAGACTCTGGTTTCGCGTGTGTAAAATGGTCACAGGAATGGTATTTATCTCCCTTGAGATTGTTGAGGGGATTGCATGGAAGACTTGTAAAAATATGCATGCTAAAAACATGTTGTTCAGTAAATACCTGCTACTGTTATTGTTACTTTATTATTAAGTTATTCGGTTGACTCTACCAATGACTTATACTTCCTGTCAACTTTTATTATAGCAGTAATGAAGCATTGCACTGATTCAGATTTTGTGAAACCTCACATTTAGGCTGCACTCCACCAGCCCAAGAAAGGGGCTTACTGAATAAACTACCTACATGAAAACAATGCTGGGAACTTAAATTAAAAAAGAAAAGACATTTAAGGGAAACCTTTCATCACCCTAAATGCTTACAGCATTCATTCACAGAAAAACTGACGTTTATTACCCATATTAATTTATGCATTAAGTCCTTAAGGAATAGTATAAAAATATTCTGTGAACTTAGCATTAGCTACTGTTTAGAAAAGTAAGACTGTCTATTTGAAAAATTAAATCAGATCATCTTCTTAATTCTGATGATTTTTGTCAGACAAATAGTATAATCACCAAGGGTTCCCCCCCCCCCCAACCTTATTTGGAATTAAGAAGCACAGGACTTTGAGAAGAGATAGTGTTATTTCAGTAAATGGGTGAATTTGCCCTCTGGGTAACAACTTTTTAGAGTTTGAGTATACATGCAGAAGAAACCAGTGTTAATGTTGGTTCATGATAAAGCGCACGTAGTAAAGTTCATGATTTACAGCACGTAAAATGCTGTAACAATTCTGTCTTTTCGGACCACATGGATGGTGATTTTTCCTGTTCTGTCCACTGGTACAAACCTCCCCTCTTCTCTTTTTTGGTGTGGGTTAGGTTAACAATTATACCATGACTCCACACATTTTTGCGAGGTCTTAGTATGATGTGTTTACTGTCACTCTGCCCCTCCGATTGACCCGAGTGTCCTTGGAGAGATGTTGTGTCAGGGTCTTCTGGCTCATTTCCCAGCACAAATGTCCAGAAGAGTTGGGCAGGAACACAAAGATGGGCCAGGGGGAATGGCTGTGACCACCTTGATGGAAATAATTGGTTTTGAGGATCTGTTGATTGCAAGAACCCCCATTGGGAATCCTTTGACTGAGGCATGGCACTTGCTGGAGCAGTGGCACTTGGACAGCAATCCAGGATCATTGATGCTAGCCACAGCACTCCTGGGGTGTGTGTATAGAGGGGGTGCATGCCCCTGCTCTATCATCTGTTGTAATTGCTGTGGAAACGGTCTAGCAGGATGCTCACGGTGGAACCCCTCATTGCCTGTCAGATGGTGTCGAGAGCCATGAGTTGGGATCAGGGAAGGGGACTGTGAGGGCAAGCCTTGGTTAGGGGCAGATATTTGTCAGAGGGCAGCAGGGTCTGGAGACATTAGGAGCTGAATTTCTTCTTATTAGGAGCAGTTGGAGGGAATGGTGCTCTGCTGCCAGCCCCCTTTTTTGGTGCCAGCTGGGTCCTGAAATCCTATGTTAAGGAAGCTGAAAGTTGCCTCTGAGGGCTGGGTTTATCTTTGTCTGCTAGTTGTGAACCTGGTCAGGTTTTAGGAATAATTCAGAAAAAAATTTTCTTTGGGCTAATTGTGTGGTAGAGAAGCCCTCGTGGGCAACATCCTGTGTGTCTCCTAGATTGGCGTATGTCTGCATTTCTACCACTTTAAATTTGGCGGAATAGGATCAAAGCCTCAGGCAGCTGGGCATATTATCCTCTAATTTCATTGATTTGTTCTAGTGGTTGTCTTTATTGGAATCCACATGAAAGGGAACTTTGAGAGAGAATGTATAATCATCTAATGTGTAGCTGTCTTTAAAAAAGTAGATACATGCAGGTTACAGAAGAGGGAATTTATATCTTATAGTTAAAGTGCTAGTCTTTTCTGTCTATTTAAGGTGATGCCTGATATTGTCATGTTACAGAGGCGGATGCCCCAAACCTTCCGTGACCCAGCAACTGCTCCCGAGAAAACTTTCTGTTGACTTGATCAAAACATACAAGCATATTAATGAGGTAAGACTTGATTTGTTATAATAACATCTATCTTGCAGTATGTCATTGAGAAAAAAAGTGTGACCTATTTACCCTAAACTTTTTTTTCATTCCTAGTAGTTGTCATATTGATGATTATTATGAAGACTAATGATTTAGAAATAATATTACAATTATGTAAAAGATATATTAACAAGGACTGCAGAGTATAAAGATAATTGTGGATAACTTGATTTTTTTAAGGTTGTATTTAATATACTGTTATTTCTTTTTTTAATTTTTATTTTTTGTTTTTTATTTCATTTGAGTTCTGTAATAACTTATTCAAAACAAGAAAGGGGAATAAGGACTCTAAAAGTATATATGTGTTAGAATTTTTGCTAGAATTTTTATATATTTGTTTCTGCTTTTGCCATGGGTGTCAGGAAGCTCTGAAATATGTTTAATACCTAGTTACAGGCATTTGGCCTAGTTTATTTGATCTATCTATATTTCTGTGATTTTATTGTCTTTTAACTTTTTATGTGTGTTCTTTTATCTATATCTTTTTATGATAAGATGTCCAGAAGCTTTTTTGTTGTAAGTAAATAAGATAAAAAACAGACACAGCACTTTGAATTCCTTGCCTGTACTTGGTGTTTTGCCACCGAAAATTTTTCTGGTGTCTTGGACCATTGGCTTCATTGCCATTTGCTTGTGGCTTCAACTCTGTCTCCAAAGTTAATTATTAAAGGAGCATTTCTGGAGAAGAATCCATGCTTTCTTTCCTCTTCTAGTGGGAGCCCTGCACCCTTTCATGTTGAAGGCTTGTCCTTTGCCAGCTTTAGAGCTGCTTAGCTGAAAAGTGAAAAGATGTTCTTAGGTACATGCAAATTTTATAGCAATTTAATGTTATTTAATGACAGTATTACTACATTACAGTGGCAGTGTGGCAACGTAAAATTAGAATGAACTCTGTGAGGAACATTTCTGAGTTAGATTTTGTACACATTTATATATTATAAACATGTTCCAGACTAGCTTGTGATTATCTGAATATATCTGATAAATTGTTGATAACAGTATATTAATTTCAATTTGTTATTATCTGATAAATTGTTAACAAAGCTACAGTTAAACTGTTGTTAACAGTAGCTTTCTTGGAGCTTGTTTTTAAGTGTCTTAACCACGTTATAAAGTAGACTTTTTCTGATGTTATTCCATGCAGTGTAATTTATAATTTCGCCAAAGTTAGTTTACCAGTTACCTGGACTGTTTCCTAGTTCATCTAGTATTTTTTTTTTTTACTAGTCTTAGAAACAGTGTTGGTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTTTGTCACCAAGGCTGCCAGCCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCTCCGCCTCCCAGGTTCATACCTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCCAGAATCAGTGTTAAAGAAAATAACTCAGCCTGTGATTAACCATAGGCGTATGGTCTTTGGGAGTGGGGGCTAAGAGGCCATAGCTGTTTTTCATTAATCGTTATATTTTTATAGGTTTAAAAACTGGGCATGTCTCAGAGGGCCTATTTATTTTAGTAAAACATCACTTGGTCTACATCTGAACTTATTTTAAAAATATGTTGCCATAAAATCAAATATAAATAAATTCATGCAAGTTACAGAAGAGGGAATTTATATCAATAAATTCCCTTTATATCCCAAATATAAAGTTGGGATTGACTGGAAGGGGGCATGAGAGAACTTGAACTTGAGGGACATGAAAATGTTACTTGGCTGTTTGGCATTTGGNN
|
pathogenic
| 318,888 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 21, position 37478261, gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['DYRK1A-related_intellectual_disability_syndrome', 'Intellectual_disability']
|
AAGTTCTTTAACGTTGGAGACTCTGGTTTCGCGTGTGTAAAATGGTCACAGGAATGGTATTTATCTCCCTTGAGATTGTTGAGGGGATTGCATGGAAGACTTGTAAAAATATGCATGCTAAAAACATGTTGTTCAGTAAATACCTGCTACTGTTATTGTTACTTTATTATTAAGTTATTCGGTTGACTCTACCAATGACTTATACTTCCTGTCAACTTTTATTATAGCAGTAATGAAGCATTGCACTGATTCAGATTTTGTGAAACCTCACATTTAGGCTGCACTCCACCAGCCCAAGAAAGGGGCTTACTGAATAAACTACCTACATGAAAACAATGCTGGGAACTTAAATTAAAAAAGAAAAGACATTTAAGGGAAACCTTTCATCACCCTAAATGCTTACAGCATTCATTCACAGAAAAACTGACGTTTATTACCCATATTAATTTATGCATTAAGTCCTTAAGGAATAGTATAAAAATATTCTGTGAACTTAGCATTAGCTACTGTTTAGAAAAGTAAGACTGTCTATTTGAAAAATTAAATCAGATCATCTTCTTAATTCTGATGATTTTTGTCAGACAAATAGTATAATCACCAAGGGTTCCCCCCCCCCCCAACCTTATTTGGAATTAAGAAGCACAGGACTTTGAGAAGAGATAGTGTTATTTCAGTAAATGGGTGAATTTGCCCTCTGGGTAACAACTTTTTAGAGTTTGAGTATACATGCAGAAGAAACCAGTGTTAATGTTGGTTCATGATAAAGCGCACGTAGTAAAGTTCATGATTTACAGCACGTAAAATGCTGTAACAATTCTGTCTTTTCGGACCACATGGATGGTGATTTTTCCTGTTCTGTCCACTGGTACAAACCTCCCCTCTTCTCTTTTTTGGTGTGGGTTAGGTTAACAATTATACCATGACTCCACACATTTTTGCGAGGTCTTAGTATGATGTGTTTACTGTCACTCTGCCCCTCCGATTGACCCGAGTGTCCTTGGAGAGATGTTGTGTCAGGGTCTTCTGGCTCATTTCCCAGCACAAATGTCCAGAAGAGTTGGGCAGGAACACAAAGATGGGCCAGGGGGAATGGCTGTGACCACCTTGATGGAAATAATTGGTTTTGAGGATCTGTTGATTGCAAGAACCCCCATTGGGAATCCTTTGACTGAGGCATGGCACTTGCTGGAGCAGTGGCACTTGGACAGCAATCCAGGATCATTGATGCTAGCCACAGCACTCCTGGGGTGTGTGTATAGAGGGGGTGCATGCCCCTGCTCTATCATCTGTTGTAATTGCTGTGGAAACGGTCTAGCAGGATGCTCACGGTGGAACCCCTCATTGCCTGTCAGATGGTGTCGAGAGCCATGAGTTGGGATCAGGGAAGGGGACTGTGAGGGCAAGCCTTGGTTAGGGGCAGATATTTGTCAGAGGGCAGCAGGGTCTGGAGACATTAGGAGCTGAATTTCTTCTTATTAGGAGCAGTTGGAGGGAATGGTGCTCTGCTGCCAGCCCCCTTTTTTGGTGCCAGCTGGGTCCTGAAATCCTATGTTAAGGAAGCTGAAAGTTGCCTCTGAGGGCTGGGTTTATCTTTGTCTGCTAGTTGTGAACCTGGTCAGGTTTTAGGAATAATTCAGAAAAAAATTTTCTTTGGGCTAATTGTGTGGTAGAGAAGCCCTCGTGGGCAACATCCTGTGTGTCTCCTAGATTGGCGTATGTCTGCATTTCTACCACTTTAAATTTGGCGGAATAGGATCAAAGCCTCAGGCAGCTGGGCATATTATCCTCTAATTTCATTGATTTGTTCTAGTGGTTGTCTTTATTGGAATCCACATGAAAGGGAACTTTGAGAGAGAATGTATAATCATCTAATGTGTAGCTGTCTTTAAAAAAGTAGATACATGCAGGTTACAGAAGAGGGAATTTATATCTTATAGTTAAAGTGCTAGTCTTTTCTGTCTATTTAAGGTGATGCCTGATATTGTCATGTTACAGAGGCGGATGCCCCAAACCTTCCGTGACCCAGCAACTGCTCCCCTGAGAAAACTTTCTGTTGACTTGATCAAAACATACAAGCATATTAATGAGGTAAGACTTGATTTGTTATAATAACATCTATCTTGCAGTATGTCATTGAGAAAAAAAGTGTGACCTATTTACCCTAAACTTTTTTTTCATTCCTAGTAGTTGTCATATTGATGATTATTATGAAGACTAATGATTTAGAAATAATATTACAATTATGTAAAAGATATATTAACAAGGACTGCAGAGTATAAAGATAATTGTGGATAACTTGATTTTTTTAAGGTTGTATTTAATATACTGTTATTTCTTTTTTTAATTTTTATTTTTTGTTTTTTATTTCATTTGAGTTCTGTAATAACTTATTCAAAACAAGAAAGGGGAATAAGGACTCTAAAAGTATATATGTGTTAGAATTTTTGCTAGAATTTTTATATATTTGTTTCTGCTTTTGCCATGGGTGTCAGGAAGCTCTGAAATATGTTTAATACCTAGTTACAGGCATTTGGCCTAGTTTATTTGATCTATCTATATTTCTGTGATTTTATTGTCTTTTAACTTTTTATGTGTGTTCTTTTATCTATATCTTTTTATGATAAGATGTCCAGAAGCTTTTTTGTTGTAAGTAAATAAGATAAAAAACAGACACAGCACTTTGAATTCCTTGCCTGTACTTGGTGTTTTGCCACCGAAAATTTTTCTGGTGTCTTGGACCATTGGCTTCATTGCCATTTGCTTGTGGCTTCAACTCTGTCTCCAAAGTTAATTATTAAAGGAGCATTTCTGGAGAAGAATCCATGCTTTCTTTCCTCTTCTAGTGGGAGCCCTGCACCCTTTCATGTTGAAGGCTTGTCCTTTGCCAGCTTTAGAGCTGCTTAGCTGAAAAGTGAAAAGATGTTCTTAGGTACATGCAAATTTTATAGCAATTTAATGTTATTTAATGACAGTATTACTACATTACAGTGGCAGTGTGGCAACGTAAAATTAGAATGAACTCTGTGAGGAACATTTCTGAGTTAGATTTTGTACACATTTATATATTATAAACATGTTCCAGACTAGCTTGTGATTATCTGAATATATCTGATAAATTGTTGATAACAGTATATTAATTTCAATTTGTTATTATCTGATAAATTGTTAACAAAGCTACAGTTAAACTGTTGTTAACAGTAGCTTTCTTGGAGCTTGTTTTTAAGTGTCTTAACCACGTTATAAAGTAGACTTTTTCTGATGTTATTCCATGCAGTGTAATTTATAATTTCGCCAAAGTTAGTTTACCAGTTACCTGGACTGTTTCCTAGTTCATCTAGTATTTTTTTTTTTTACTAGTCTTAGAAACAGTGTTGGTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTTTGTCACCAAGGCTGCCAGCCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCTCCGCCTCCCAGGTTCATACCTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCCAGAATCAGTGTTAAAGAAAATAACTCAGCCTGTGATTAACCATAGGCGTATGGTCTTTGGGAGTGGGGGCTAAGAGGCCATAGCTGTTTTTCATTAATCGTTATATTTTTATAGGTTTAAAAACTGGGCATGTCTCAGAGGGCCTATTTATTTTAGTAAAACATCACTTGGTCTACATCTGAACTTATTTTAAAAATATGTTGCCATAAAATCAAATATAAATAAATTCATGCAAGTTACAGAAGAGGGAATTTATATCAATAAATTCCCTTTATATCCCAAATATAAAGTTGGGATTGACTGGAAGGGGGCATGAGAGAACTTGAACTTGAGGGACATGAAAATGTTACTTGGCTGTTTGGCATTTGGTAACTTTTGTCA
|
AAGTTCTTTAACGTTGGAGACTCTGGTTTCGCGTGTGTAAAATGGTCACAGGAATGGTATTTATCTCCCTTGAGATTGTTGAGGGGATTGCATGGAAGACTTGTAAAAATATGCATGCTAAAAACATGTTGTTCAGTAAATACCTGCTACTGTTATTGTTACTTTATTATTAAGTTATTCGGTTGACTCTACCAATGACTTATACTTCCTGTCAACTTTTATTATAGCAGTAATGAAGCATTGCACTGATTCAGATTTTGTGAAACCTCACATTTAGGCTGCACTCCACCAGCCCAAGAAAGGGGCTTACTGAATAAACTACCTACATGAAAACAATGCTGGGAACTTAAATTAAAAAAGAAAAGACATTTAAGGGAAACCTTTCATCACCCTAAATGCTTACAGCATTCATTCACAGAAAAACTGACGTTTATTACCCATATTAATTTATGCATTAAGTCCTTAAGGAATAGTATAAAAATATTCTGTGAACTTAGCATTAGCTACTGTTTAGAAAAGTAAGACTGTCTATTTGAAAAATTAAATCAGATCATCTTCTTAATTCTGATGATTTTTGTCAGACAAATAGTATAATCACCAAGGGTTCCCCCCCCCCCCAACCTTATTTGGAATTAAGAAGCACAGGACTTTGAGAAGAGATAGTGTTATTTCAGTAAATGGGTGAATTTGCCCTCTGGGTAACAACTTTTTAGAGTTTGAGTATACATGCAGAAGAAACCAGTGTTAATGTTGGTTCATGATAAAGCGCACGTAGTAAAGTTCATGATTTACAGCACGTAAAATGCTGTAACAATTCTGTCTTTTCGGACCACATGGATGGTGATTTTTCCTGTTCTGTCCACTGGTACAAACCTCCCCTCTTCTCTTTTTTGGTGTGGGTTAGGTTAACAATTATACCATGACTCCACACATTTTTGCGAGGTCTTAGTATGATGTGTTTACTGTCACTCTGCCCCTCCGATTGACCCGAGTGTCCTTGGAGAGATGTTGTGTCAGGGTCTTCTGGCTCATTTCCCAGCACAAATGTCCAGAAGAGTTGGGCAGGAACACAAAGATGGGCCAGGGGGAATGGCTGTGACCACCTTGATGGAAATAATTGGTTTTGAGGATCTGTTGATTGCAAGAACCCCCATTGGGAATCCTTTGACTGAGGCATGGCACTTGCTGGAGCAGTGGCACTTGGACAGCAATCCAGGATCATTGATGCTAGCCACAGCACTCCTGGGGTGTGTGTATAGAGGGGGTGCATGCCCCTGCTCTATCATCTGTTGTAATTGCTGTGGAAACGGTCTAGCAGGATGCTCACGGTGGAACCCCTCATTGCCTGTCAGATGGTGTCGAGAGCCATGAGTTGGGATCAGGGAAGGGGACTGTGAGGGCAAGCCTTGGTTAGGGGCAGATATTTGTCAGAGGGCAGCAGGGTCTGGAGACATTAGGAGCTGAATTTCTTCTTATTAGGAGCAGTTGGAGGGAATGGTGCTCTGCTGCCAGCCCCCTTTTTTGGTGCCAGCTGGGTCCTGAAATCCTATGTTAAGGAAGCTGAAAGTTGCCTCTGAGGGCTGGGTTTATCTTTGTCTGCTAGTTGTGAACCTGGTCAGGTTTTAGGAATAATTCAGAAAAAAATTTTCTTTGGGCTAATTGTGTGGTAGAGAAGCCCTCGTGGGCAACATCCTGTGTGTCTCCTAGATTGGCGTATGTCTGCATTTCTACCACTTTAAATTTGGCGGAATAGGATCAAAGCCTCAGGCAGCTGGGCATATTATCCTCTAATTTCATTGATTTGTTCTAGTGGTTGTCTTTATTGGAATCCACATGAAAGGGAACTTTGAGAGAGAATGTATAATCATCTAATGTGTAGCTGTCTTTAAAAAAGTAGATACATGCAGGTTACAGAAGAGGGAATTTATATCTTATAGTTAAAGTGCTAGTCTTTTCTGTCTATTTAAGGTGATGCCTGATATTGTCATGTTACAGAGGCGGATGCCCCAAACCTTCCGTGACCCAGCAACTGCTCCCCTGAGAAAACTTTGTTGACTTGATCAAAACATACAAGCATATTAATGAGGTAAGACTTGATTTGTTATAATAACATCTATCTTGCAGTATGTCATTGAGAAAAAAAGTGTGACCTATTTACCCTAAACTTTTTTTTCATTCCTAGTAGTTGTCATATTGATGATTATTATGAAGACTAATGATTTAGAAATAATATTACAATTATGTAAAAGATATATTAACAAGGACTGCAGAGTATAAAGATAATTGTGGATAACTTGATTTTTTTAAGGTTGTATTTAATATACTGTTATTTCTTTTTTTAATTTTTATTTTTTGTTTTTTATTTCATTTGAGTTCTGTAATAACTTATTCAAAACAAGAAAGGGGAATAAGGACTCTAAAAGTATATATGTGTTAGAATTTTTGCTAGAATTTTTATATATTTGTTTCTGCTTTTGCCATGGGTGTCAGGAAGCTCTGAAATATGTTTAATACCTAGTTACAGGCATTTGGCCTAGTTTATTTGATCTATCTATATTTCTGTGATTTTATTGTCTTTTAACTTTTTATGTGTGTTCTTTTATCTATATCTTTTTATGATAAGATGTCCAGAAGCTTTTTTGTTGTAAGTAAATAAGATAAAAAACAGACACAGCACTTTGAATTCCTTGCCTGTACTTGGTGTTTTGCCACCGAAAATTTTTCTGGTGTCTTGGACCATTGGCTTCATTGCCATTTGCTTGTGGCTTCAACTCTGTCTCCAAAGTTAATTATTAAAGGAGCATTTCTGGAGAAGAATCCATGCTTTCTTTCCTCTTCTAGTGGGAGCCCTGCACCCTTTCATGTTGAAGGCTTGTCCTTTGCCAGCTTTAGAGCTGCTTAGCTGAAAAGTGAAAAGATGTTCTTAGGTACATGCAAATTTTATAGCAATTTAATGTTATTTAATGACAGTATTACTACATTACAGTGGCAGTGTGGCAACGTAAAATTAGAATGAACTCTGTGAGGAACATTTCTGAGTTAGATTTTGTACACATTTATATATTATAAACATGTTCCAGACTAGCTTGTGATTATCTGAATATATCTGATAAATTGTTGATAACAGTATATTAATTTCAATTTGTTATTATCTGATAAATTGTTAACAAAGCTACAGTTAAACTGTTGTTAACAGTAGCTTTCTTGGAGCTTGTTTTTAAGTGTCTTAACCACGTTATAAAGTAGACTTTTTCTGATGTTATTCCATGCAGTGTAATTTATAATTTCGCCAAAGTTAGTTTACCAGTTACCTGGACTGTTTCCTAGTTCATCTAGTATTTTTTTTTTTTACTAGTCTTAGAAACAGTGTTGGTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTTTGTCACCAAGGCTGCCAGCCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCTCCGCCTCCCAGGTTCATACCTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCCAGAATCAGTGTTAAAGAAAATAACTCAGCCTGTGATTAACCATAGGCGTATGGTCTTTGGGAGTGGGGGCTAAGAGGCCATAGCTGTTTTTCATTAATCGTTATATTTTTATAGGTTTAAAAACTGGGCATGTCTCAGAGGGCCTATTTATTTTAGTAAAACATCACTTGGTCTACATCTGAACTTATTTTAAAAATATGTTGCCATAAAATCAAATATAAATAAATTCATGCAAGTTACAGAAGAGGGAATTTATATCAATAAATTCCCTTTATATCCCAAATATAAAGTTGGGATTGACTGGAAGGGGGCATGAGAGAACTTGAACTTGAGGGACATGAAAATGTTACTTGGCTGTTTGGCATTTGGTAACTTTTGTCANN
|
pathogenic
| 318,889 |
Does the chromosome 21 mutation at position 37480756 within gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['DYRK1A-related_intellectual_disability_syndrome', 'Inborn_genetic_diseases']
|
GCTCTGAAATATGTTTAATACCTAGTTACAGGCATTTGGCCTAGTTTATTTGATCTATCTATATTTCTGTGATTTTATTGTCTTTTAACTTTTTATGTGTGTTCTTTTATCTATATCTTTTTATGATAAGATGTCCAGAAGCTTTTTTGTTGTAAGTAAATAAGATAAAAAACAGACACAGCACTTTGAATTCCTTGCCTGTACTTGGTGTTTTGCCACCGAAAATTTTTCTGGTGTCTTGGACCATTGGCTTCATTGCCATTTGCTTGTGGCTTCAACTCTGTCTCCAAAGTTAATTATTAAAGGAGCATTTCTGGAGAAGAATCCATGCTTTCTTTCCTCTTCTAGTGGGAGCCCTGCACCCTTTCATGTTGAAGGCTTGTCCTTTGCCAGCTTTAGAGCTGCTTAGCTGAAAAGTGAAAAGATGTTCTTAGGTACATGCAAATTTTATAGCAATTTAATGTTATTTAATGACAGTATTACTACATTACAGTGGCAGTGTGGCAACGTAAAATTAGAATGAACTCTGTGAGGAACATTTCTGAGTTAGATTTTGTACACATTTATATATTATAAACATGTTCCAGACTAGCTTGTGATTATCTGAATATATCTGATAAATTGTTGATAACAGTATATTAATTTCAATTTGTTATTATCTGATAAATTGTTAACAAAGCTACAGTTAAACTGTTGTTAACAGTAGCTTTCTTGGAGCTTGTTTTTAAGTGTCTTAACCACGTTATAAAGTAGACTTTTTCTGATGTTATTCCATGCAGTGTAATTTATAATTTCGCCAAAGTTAGTTTACCAGTTACCTGGACTGTTTCCTAGTTCATCTAGTATTTTTTTTTTTTACTAGTCTTAGAAACAGTGTTGGTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTTTGTCACCAAGGCTGCCAGCCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCTCCGCCTCCCAGGTTCATACCTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCCAGAATCAGTGTTAAAGAAAATAACTCAGCCTGTGATTAACCATAGGCGTATGGTCTTTGGGAGTGGGGGCTAAGAGGCCATAGCTGTTTTTCATTAATCGTTATATTTTTATAGGTTTAAAAACTGGGCATGTCTCAGAGGGCCTATTTATTTTAGTAAAACATCACTTGGTCTACATCTGAACTTATTTTAAAAATATGTTGCCATAAAATCAAATATAAATAAATTCATGCAAGTTACAGAAGAGGGAATTTATATCAATAAATTCCCTTTATATCCCAAATATAAAGTTGGGATTGACTGGAAGGGGGCATGAGAGAACTTGAACTTGAGGGACATGAAAATGTTACTTGGCTGTTTGGCATTTGGTAACTTTTGTCAAAATTCCTCATGTTGAACTCTTAAGATCTGTGCCACCTCACTGTATATAAATTATACTTCAATTTAACAAATAAATATAAACCAGGTCCTTTTACTTTTCTTGAATGGCATACTTTGGACAAGTCACTTAACATTTTTTGTTTACAAAGTCTATAAACAGTATAACTATAATGAATTTCACTGTATAAATTTTTTCATTGGTTAGATCAGTATTATTTTCTAACTCAAATGTCAACTGTAGAAAATAGGTGTGTGTCAATATACTCTGATAATGCCCTTCCTCACAGTGATTTAAATTTTACAGTTAACACTATGTATTCTCATTTCAGGTTTACTATGCAAAAAAGAAGCGAAGACACCAACAGGGCCAGGGAGACGATTCTAGTCATAAGAAGGAACGGAAGGTTTACAATGATGGTTATGATGATGATAACTATGATTATATTGTAAAAAACGGAGAAAAGTGGATGGATCGTTACGAAATTGACTCCTTGATAGGCAAAGGTTCCTTTGGACAGGTAATTTAATGGAAAATGCTGAATTTCATTAGTTAGAAAGAACTTCTTAGTGAATCTTGTTGTTAACAGCCCTTCCTCAAGAGTGTACTTTTAATATTTGCAAATAGAGCTCAGCAATGGATATGCAAGTATTTGGATGACCATAATTCTTTAAAGGTAGTGATACTGCATCAGTAATATAAACTCCTTAGACTTCTAAAAACTTTTATGGCTACCAAGTGCTCATTTTACTAATGACTGGTGAATTTTAATCACTTAATAGATAGTATTGCCTCTTTGTTATGGGCCTTGTATAGTCTGTAGATGATTGTTAATTACATATGCTAGAGGTATTTACCTTCTTGTCCGATAGACCACTTCAAAGAGAAAAGAATTACCATGTTCAGGTGGTGCAGTGGGAGTCCACTCACTTTTCAGGAGGCTTTGGAAAGCTGGGGGTTGTTCCCTGGCTTTTTCTCCCACTTCATGTTGTAACTATATCAGACCTCTAAGCAGGCAGGCAGTCTTAGTCTCTTGTATCAGTCGCACCAATACCAAGAGTTTTGGGTCTTTCTCCTTGTGCTTTATTTATTTATTTATTTAGAGACAGACTTGCACTCCTGTCACCCAGGCTGGAGTGCAGTGGTGCACTCTCGGCTCACTGCAACTTCCATTTCCCAGGTTCAAGTGATTCTCATGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGTGCCTGTAACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTTCAGGCGTGAGCCACCATGCCTGGCCTCCTTGTATTTTTAAAAATATTTTTTCGGGTCAGGCGTGGTGACTCACACCTATAATCCCAGCACTTTGGGAATCTGAAGCAGAAGGATCACCTGAGCCCAGTAATTCCAGAACAGCCTGGGCAACATAGCAAGACCTTGTCTCTATTCATTTAAAAAAAAAAAATGTTAGGGGGATCTCTGGTTGTGGTCCCCCAGCTGTTCCCAGTTGTAAGTCCTTCTATCACATTGAGTCACAGAGCTGTGTTTTGTTTGAGGTGTGATTTGCTGATAATCCCAGTCTCCTCTGCCTTGCAGCCCTTGTGGAATGAGATGGTTATTAATCTGCAGTCCAAACTTTTGACTTTTCGATGATGAGGATAGAATGGGAATCAAAATGACTTTTCCTAAATTGCCTTTTTTTGTTTTCTTAAACTATGGAACCTGCATGTGCTTACTTCTCTGTTCCTGCCCTGAGAGAACACAAAATACATGCTCCTTTTTAACCTGTGAGGAAAAAGCCATCATGCTTAAAACAGAAAGTGTTCTGTATTATCGGGGGAAATTCAGCCAGATATCGGGCAAAATTCACCCCCAATATTTCATGTAGGTTCTTTTCTATTTTCCCTAAGCGTCGGCCGGTTTGAGAAATAAAGGGACAGAGTACAAAAGAGAAATATTTTAAAGCTGGGCATCTGGGGGAGACATCACATGTCGGTAGGTTCTCTGATGCCCCACAAGCCGCAAAACCAGCAAGTTTTTATTAGGGATTTTCAAAAGGGGAGGGAGTATACGAATAAGGTGTGGGTCACAGAGATCACATACTTCACAAGGTAATATAATATCACAAGGCAAATGGAGGCAGGGCGAGATCGCAGGACCACAGGACCAGGGCGAAATTAAAATTGCTAATGAAGTTTTGGGCACCACTGTCATTGATAACATCTTATCAGGAGACAGGGTTTGAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGCGGGAATTTCCTTGTCCTAATAAGCCTGGGGGTGCTATGGGAGACTGGGGCTTATTTCATCCCTACAGTCTCGACCATAGAAGACGGCCACACCCAAGGGGGCCATTTCAGAGACCTACCCTCAGGGGC
|
GCTCTGAAATATGTTTAATACCTAGTTACAGGCATTTGGCCTAGTTTATTTGATCTATCTATATTTCTGTGATTTTATTGTCTTTTAACTTTTTATGTGTGTTCTTTTATCTATATCTTTTTATGATAAGATGTCCAGAAGCTTTTTTGTTGTAAGTAAATAAGATAAAAAACAGACACAGCACTTTGAATTCCTTGCCTGTACTTGGTGTTTTGCCACCGAAAATTTTTCTGGTGTCTTGGACCATTGGCTTCATTGCCATTTGCTTGTGGCTTCAACTCTGTCTCCAAAGTTAATTATTAAAGGAGCATTTCTGGAGAAGAATCCATGCTTTCTTTCCTCTTCTAGTGGGAGCCCTGCACCCTTTCATGTTGAAGGCTTGTCCTTTGCCAGCTTTAGAGCTGCTTAGCTGAAAAGTGAAAAGATGTTCTTAGGTACATGCAAATTTTATAGCAATTTAATGTTATTTAATGACAGTATTACTACATTACAGTGGCAGTGTGGCAACGTAAAATTAGAATGAACTCTGTGAGGAACATTTCTGAGTTAGATTTTGTACACATTTATATATTATAAACATGTTCCAGACTAGCTTGTGATTATCTGAATATATCTGATAAATTGTTGATAACAGTATATTAATTTCAATTTGTTATTATCTGATAAATTGTTAACAAAGCTACAGTTAAACTGTTGTTAACAGTAGCTTTCTTGGAGCTTGTTTTTAAGTGTCTTAACCACGTTATAAAGTAGACTTTTTCTGATGTTATTCCATGCAGTGTAATTTATAATTTCGCCAAAGTTAGTTTACCAGTTACCTGGACTGTTTCCTAGTTCATCTAGTATTTTTTTTTTTTACTAGTCTTAGAAACAGTGTTGGTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTTTGTCACCAAGGCTGCCAGCCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCTCCGCCTCCCAGGTTCATACCTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCCAGAATCAGTGTTAAAGAAAATAACTCAGCCTGTGATTAACCATAGGCGTATGGTCTTTGGGAGTGGGGGCTAAGAGGCCATAGCTGTTTTTCATTAATCGTTATATTTTTATAGGTTTAAAAACTGGGCATGTCTCAGAGGGCCTATTTATTTTAGTAAAACATCACTTGGTCTACATCTGAACTTATTTTAAAAATATGTTGCCATAAAATCAAATATAAATAAATTCATGCAAGTTACAGAAGAGGGAATTTATATCAATAAATTCCCTTTATATCCCAAATATAAAGTTGGGATTGACTGGAAGGGGGCATGAGAGAACTTGAACTTGAGGGACATGAAAATGTTACTTGGCTGTTTGGCATTTGGTAACTTTTGTCAAAATTCCTCATGTTGAACTCTTAAGATCTGTGCCACCTCACTGTATATAAATTATACTTCAATTTAACAAATAAATATAAACCAGGTCCTTTTACTTTTCTTGAATGGCATACTTTGGACAAGTCACTTAACATTTTTTGTTTACAAAGTCTATAAACAGTATAACTATAATGAATTTCACTGTATAAATTTTTTCATTGGTTAGATCAGTATTATTTTCTAACTCAAATGTCAACTGTAGAAAATAGGTGTGTGTCAATATACTCTGATAATGCCCTTCCTCACAGTGATTTAAATTTTACAGTTAACACTATGTATTCTCATTTCAGGTTTACTATGCAAAAAAGAAGCGAAGACACCAACAGGGCCAGGGAGACGATTCTAGTCATAAGAAGGAACGGAAGGTTTACAATGATGGTTATGATGATGATAACTATGATTATATTGTAAAAAAACGGAGAAAAGTGGATGGATCGTTACGAAATTGACTCCTTGATAGGCAAAGGTTCCTTTGGACAGGTAATTTAATGGAAAATGCTGAATTTCATTAGTTAGAAAGAACTTCTTAGTGAATCTTGTTGTTAACAGCCCTTCCTCAAGAGTGTACTTTTAATATTTGCAAATAGAGCTCAGCAATGGATATGCAAGTATTTGGATGACCATAATTCTTTAAAGGTAGTGATACTGCATCAGTAATATAAACTCCTTAGACTTCTAAAAACTTTTATGGCTACCAAGTGCTCATTTTACTAATGACTGGTGAATTTTAATCACTTAATAGATAGTATTGCCTCTTTGTTATGGGCCTTGTATAGTCTGTAGATGATTGTTAATTACATATGCTAGAGGTATTTACCTTCTTGTCCGATAGACCACTTCAAAGAGAAAAGAATTACCATGTTCAGGTGGTGCAGTGGGAGTCCACTCACTTTTCAGGAGGCTTTGGAAAGCTGGGGGTTGTTCCCTGGCTTTTTCTCCCACTTCATGTTGTAACTATATCAGACCTCTAAGCAGGCAGGCAGTCTTAGTCTCTTGTATCAGTCGCACCAATACCAAGAGTTTTGGGTCTTTCTCCTTGTGCTTTATTTATTTATTTATTTAGAGACAGACTTGCACTCCTGTCACCCAGGCTGGAGTGCAGTGGTGCACTCTCGGCTCACTGCAACTTCCATTTCCCAGGTTCAAGTGATTCTCATGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGTGCCTGTAACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTTCAGGCGTGAGCCACCATGCCTGGCCTCCTTGTATTTTTAAAAATATTTTTTCGGGTCAGGCGTGGTGACTCACACCTATAATCCCAGCACTTTGGGAATCTGAAGCAGAAGGATCACCTGAGCCCAGTAATTCCAGAACAGCCTGGGCAACATAGCAAGACCTTGTCTCTATTCATTTAAAAAAAAAAAATGTTAGGGGGATCTCTGGTTGTGGTCCCCCAGCTGTTCCCAGTTGTAAGTCCTTCTATCACATTGAGTCACAGAGCTGTGTTTTGTTTGAGGTGTGATTTGCTGATAATCCCAGTCTCCTCTGCCTTGCAGCCCTTGTGGAATGAGATGGTTATTAATCTGCAGTCCAAACTTTTGACTTTTCGATGATGAGGATAGAATGGGAATCAAAATGACTTTTCCTAAATTGCCTTTTTTTGTTTTCTTAAACTATGGAACCTGCATGTGCTTACTTCTCTGTTCCTGCCCTGAGAGAACACAAAATACATGCTCCTTTTTAACCTGTGAGGAAAAAGCCATCATGCTTAAAACAGAAAGTGTTCTGTATTATCGGGGGAAATTCAGCCAGATATCGGGCAAAATTCACCCCCAATATTTCATGTAGGTTCTTTTCTATTTTCCCTAAGCGTCGGCCGGTTTGAGAAATAAAGGGACAGAGTACAAAAGAGAAATATTTTAAAGCTGGGCATCTGGGGGAGACATCACATGTCGGTAGGTTCTCTGATGCCCCACAAGCCGCAAAACCAGCAAGTTTTTATTAGGGATTTTCAAAAGGGGAGGGAGTATACGAATAAGGTGTGGGTCACAGAGATCACATACTTCACAAGGTAATATAATATCACAAGGCAAATGGAGGCAGGGCGAGATCGCAGGACCACAGGACCAGGGCGAAATTAAAATTGCTAATGAAGTTTTGGGCACCACTGTCATTGATAACATCTTATCAGGAGACAGGGTTTGAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGCGGGAATTTCCTTGTCCTAATAAGCCTGGGGGTGCTATGGGAGACTGGGGCTTATTTCATCCCTACAGTCTCGACCATAGAAGACGGCCACACCCAAGGGGGCCATTTCAGAGACCTACCCTCAGGGG
|
pathogenic
| 318,900 |
Determine whether the variant at chromosome 21, position 37480785, in gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['DYRK1A-related_intellectual_disability_syndrome']
|
AGGCATTTGGCCTAGTTTATTTGATCTATCTATATTTCTGTGATTTTATTGTCTTTTAACTTTTTATGTGTGTTCTTTTATCTATATCTTTTTATGATAAGATGTCCAGAAGCTTTTTTGTTGTAAGTAAATAAGATAAAAAACAGACACAGCACTTTGAATTCCTTGCCTGTACTTGGTGTTTTGCCACCGAAAATTTTTCTGGTGTCTTGGACCATTGGCTTCATTGCCATTTGCTTGTGGCTTCAACTCTGTCTCCAAAGTTAATTATTAAAGGAGCATTTCTGGAGAAGAATCCATGCTTTCTTTCCTCTTCTAGTGGGAGCCCTGCACCCTTTCATGTTGAAGGCTTGTCCTTTGCCAGCTTTAGAGCTGCTTAGCTGAAAAGTGAAAAGATGTTCTTAGGTACATGCAAATTTTATAGCAATTTAATGTTATTTAATGACAGTATTACTACATTACAGTGGCAGTGTGGCAACGTAAAATTAGAATGAACTCTGTGAGGAACATTTCTGAGTTAGATTTTGTACACATTTATATATTATAAACATGTTCCAGACTAGCTTGTGATTATCTGAATATATCTGATAAATTGTTGATAACAGTATATTAATTTCAATTTGTTATTATCTGATAAATTGTTAACAAAGCTACAGTTAAACTGTTGTTAACAGTAGCTTTCTTGGAGCTTGTTTTTAAGTGTCTTAACCACGTTATAAAGTAGACTTTTTCTGATGTTATTCCATGCAGTGTAATTTATAATTTCGCCAAAGTTAGTTTACCAGTTACCTGGACTGTTTCCTAGTTCATCTAGTATTTTTTTTTTTTACTAGTCTTAGAAACAGTGTTGGTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTTTGTCACCAAGGCTGCCAGCCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCTCCGCCTCCCAGGTTCATACCTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCCAGAATCAGTGTTAAAGAAAATAACTCAGCCTGTGATTAACCATAGGCGTATGGTCTTTGGGAGTGGGGGCTAAGAGGCCATAGCTGTTTTTCATTAATCGTTATATTTTTATAGGTTTAAAAACTGGGCATGTCTCAGAGGGCCTATTTATTTTAGTAAAACATCACTTGGTCTACATCTGAACTTATTTTAAAAATATGTTGCCATAAAATCAAATATAAATAAATTCATGCAAGTTACAGAAGAGGGAATTTATATCAATAAATTCCCTTTATATCCCAAATATAAAGTTGGGATTGACTGGAAGGGGGCATGAGAGAACTTGAACTTGAGGGACATGAAAATGTTACTTGGCTGTTTGGCATTTGGTAACTTTTGTCAAAATTCCTCATGTTGAACTCTTAAGATCTGTGCCACCTCACTGTATATAAATTATACTTCAATTTAACAAATAAATATAAACCAGGTCCTTTTACTTTTCTTGAATGGCATACTTTGGACAAGTCACTTAACATTTTTTGTTTACAAAGTCTATAAACAGTATAACTATAATGAATTTCACTGTATAAATTTTTTCATTGGTTAGATCAGTATTATTTTCTAACTCAAATGTCAACTGTAGAAAATAGGTGTGTGTCAATATACTCTGATAATGCCCTTCCTCACAGTGATTTAAATTTTACAGTTAACACTATGTATTCTCATTTCAGGTTTACTATGCAAAAAAGAAGCGAAGACACCAACAGGGCCAGGGAGACGATTCTAGTCATAAGAAGGAACGGAAGGTTTACAATGATGGTTATGATGATGATAACTATGATTATATTGTAAAAAACGGAGAAAAGTGGATGGATCGTTACGAAATTGACTCCTTGATAGGCAAAGGTTCCTTTGGACAGGTAATTTAATGGAAAATGCTGAATTTCATTAGTTAGAAAGAACTTCTTAGTGAATCTTGTTGTTAACAGCCCTTCCTCAAGAGTGTACTTTTAATATTTGCAAATAGAGCTCAGCAATGGATATGCAAGTATTTGGATGACCATAATTCTTTAAAGGTAGTGATACTGCATCAGTAATATAAACTCCTTAGACTTCTAAAAACTTTTATGGCTACCAAGTGCTCATTTTACTAATGACTGGTGAATTTTAATCACTTAATAGATAGTATTGCCTCTTTGTTATGGGCCTTGTATAGTCTGTAGATGATTGTTAATTACATATGCTAGAGGTATTTACCTTCTTGTCCGATAGACCACTTCAAAGAGAAAAGAATTACCATGTTCAGGTGGTGCAGTGGGAGTCCACTCACTTTTCAGGAGGCTTTGGAAAGCTGGGGGTTGTTCCCTGGCTTTTTCTCCCACTTCATGTTGTAACTATATCAGACCTCTAAGCAGGCAGGCAGTCTTAGTCTCTTGTATCAGTCGCACCAATACCAAGAGTTTTGGGTCTTTCTCCTTGTGCTTTATTTATTTATTTATTTAGAGACAGACTTGCACTCCTGTCACCCAGGCTGGAGTGCAGTGGTGCACTCTCGGCTCACTGCAACTTCCATTTCCCAGGTTCAAGTGATTCTCATGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGTGCCTGTAACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTTCAGGCGTGAGCCACCATGCCTGGCCTCCTTGTATTTTTAAAAATATTTTTTCGGGTCAGGCGTGGTGACTCACACCTATAATCCCAGCACTTTGGGAATCTGAAGCAGAAGGATCACCTGAGCCCAGTAATTCCAGAACAGCCTGGGCAACATAGCAAGACCTTGTCTCTATTCATTTAAAAAAAAAAAATGTTAGGGGGATCTCTGGTTGTGGTCCCCCAGCTGTTCCCAGTTGTAAGTCCTTCTATCACATTGAGTCACAGAGCTGTGTTTTGTTTGAGGTGTGATTTGCTGATAATCCCAGTCTCCTCTGCCTTGCAGCCCTTGTGGAATGAGATGGTTATTAATCTGCAGTCCAAACTTTTGACTTTTCGATGATGAGGATAGAATGGGAATCAAAATGACTTTTCCTAAATTGCCTTTTTTTGTTTTCTTAAACTATGGAACCTGCATGTGCTTACTTCTCTGTTCCTGCCCTGAGAGAACACAAAATACATGCTCCTTTTTAACCTGTGAGGAAAAAGCCATCATGCTTAAAACAGAAAGTGTTCTGTATTATCGGGGGAAATTCAGCCAGATATCGGGCAAAATTCACCCCCAATATTTCATGTAGGTTCTTTTCTATTTTCCCTAAGCGTCGGCCGGTTTGAGAAATAAAGGGACAGAGTACAAAAGAGAAATATTTTAAAGCTGGGCATCTGGGGGAGACATCACATGTCGGTAGGTTCTCTGATGCCCCACAAGCCGCAAAACCAGCAAGTTTTTATTAGGGATTTTCAAAAGGGGAGGGAGTATACGAATAAGGTGTGGGTCACAGAGATCACATACTTCACAAGGTAATATAATATCACAAGGCAAATGGAGGCAGGGCGAGATCGCAGGACCACAGGACCAGGGCGAAATTAAAATTGCTAATGAAGTTTTGGGCACCACTGTCATTGATAACATCTTATCAGGAGACAGGGTTTGAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGCGGGAATTTCCTTGTCCTAATAAGCCTGGGGGTGCTATGGGAGACTGGGGCTTATTTCATCCCTACAGTCTCGACCATAGAAGACGGCCACACCCAAGGGGGCCATTTCAGAGACCTACCCTCAGGGGCTCATTCTCTTTCTCAGGGATGTTCCTTGC
|
AGGCATTTGGCCTAGTTTATTTGATCTATCTATATTTCTGTGATTTTATTGTCTTTTAACTTTTTATGTGTGTTCTTTTATCTATATCTTTTTATGATAAGATGTCCAGAAGCTTTTTTGTTGTAAGTAAATAAGATAAAAAACAGACACAGCACTTTGAATTCCTTGCCTGTACTTGGTGTTTTGCCACCGAAAATTTTTCTGGTGTCTTGGACCATTGGCTTCATTGCCATTTGCTTGTGGCTTCAACTCTGTCTCCAAAGTTAATTATTAAAGGAGCATTTCTGGAGAAGAATCCATGCTTTCTTTCCTCTTCTAGTGGGAGCCCTGCACCCTTTCATGTTGAAGGCTTGTCCTTTGCCAGCTTTAGAGCTGCTTAGCTGAAAAGTGAAAAGATGTTCTTAGGTACATGCAAATTTTATAGCAATTTAATGTTATTTAATGACAGTATTACTACATTACAGTGGCAGTGTGGCAACGTAAAATTAGAATGAACTCTGTGAGGAACATTTCTGAGTTAGATTTTGTACACATTTATATATTATAAACATGTTCCAGACTAGCTTGTGATTATCTGAATATATCTGATAAATTGTTGATAACAGTATATTAATTTCAATTTGTTATTATCTGATAAATTGTTAACAAAGCTACAGTTAAACTGTTGTTAACAGTAGCTTTCTTGGAGCTTGTTTTTAAGTGTCTTAACCACGTTATAAAGTAGACTTTTTCTGATGTTATTCCATGCAGTGTAATTTATAATTTCGCCAAAGTTAGTTTACCAGTTACCTGGACTGTTTCCTAGTTCATCTAGTATTTTTTTTTTTTACTAGTCTTAGAAACAGTGTTGGTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTTTGTCACCAAGGCTGCCAGCCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCTCCGCCTCCCAGGTTCATACCTTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCCAGAATCAGTGTTAAAGAAAATAACTCAGCCTGTGATTAACCATAGGCGTATGGTCTTTGGGAGTGGGGGCTAAGAGGCCATAGCTGTTTTTCATTAATCGTTATATTTTTATAGGTTTAAAAACTGGGCATGTCTCAGAGGGCCTATTTATTTTAGTAAAACATCACTTGGTCTACATCTGAACTTATTTTAAAAATATGTTGCCATAAAATCAAATATAAATAAATTCATGCAAGTTACAGAAGAGGGAATTTATATCAATAAATTCCCTTTATATCCCAAATATAAAGTTGGGATTGACTGGAAGGGGGCATGAGAGAACTTGAACTTGAGGGACATGAAAATGTTACTTGGCTGTTTGGCATTTGGTAACTTTTGTCAAAATTCCTCATGTTGAACTCTTAAGATCTGTGCCACCTCACTGTATATAAATTATACTTCAATTTAACAAATAAATATAAACCAGGTCCTTTTACTTTTCTTGAATGGCATACTTTGGACAAGTCACTTAACATTTTTTGTTTACAAAGTCTATAAACAGTATAACTATAATGAATTTCACTGTATAAATTTTTTCATTGGTTAGATCAGTATTATTTTCTAACTCAAATGTCAACTGTAGAAAATAGGTGTGTGTCAATATACTCTGATAATGCCCTTCCTCACAGTGATTTAAATTTTACAGTTAACACTATGTATTCTCATTTCAGGTTTACTATGCAAAAAAGAAGCGAAGACACCAACAGGGCCAGGGAGACGATTCTAGTCATAAGAAGGAACGGAAGGTTTACAATGATGGTTATGATGATGATAACTATGATTATATTGTAAAAAACGGAGAAAAGTGGATGGATCGTTAACGAAATTGACTCCTTGATAGGCAAAGGTTCCTTTGGACAGGTAATTTAATGGAAAATGCTGAATTTCATTAGTTAGAAAGAACTTCTTAGTGAATCTTGTTGTTAACAGCCCTTCCTCAAGAGTGTACTTTTAATATTTGCAAATAGAGCTCAGCAATGGATATGCAAGTATTTGGATGACCATAATTCTTTAAAGGTAGTGATACTGCATCAGTAATATAAACTCCTTAGACTTCTAAAAACTTTTATGGCTACCAAGTGCTCATTTTACTAATGACTGGTGAATTTTAATCACTTAATAGATAGTATTGCCTCTTTGTTATGGGCCTTGTATAGTCTGTAGATGATTGTTAATTACATATGCTAGAGGTATTTACCTTCTTGTCCGATAGACCACTTCAAAGAGAAAAGAATTACCATGTTCAGGTGGTGCAGTGGGAGTCCACTCACTTTTCAGGAGGCTTTGGAAAGCTGGGGGTTGTTCCCTGGCTTTTTCTCCCACTTCATGTTGTAACTATATCAGACCTCTAAGCAGGCAGGCAGTCTTAGTCTCTTGTATCAGTCGCACCAATACCAAGAGTTTTGGGTCTTTCTCCTTGTGCTTTATTTATTTATTTATTTAGAGACAGACTTGCACTCCTGTCACCCAGGCTGGAGTGCAGTGGTGCACTCTCGGCTCACTGCAACTTCCATTTCCCAGGTTCAAGTGATTCTCATGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGTGCCTGTAACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTTCAGGCGTGAGCCACCATGCCTGGCCTCCTTGTATTTTTAAAAATATTTTTTCGGGTCAGGCGTGGTGACTCACACCTATAATCCCAGCACTTTGGGAATCTGAAGCAGAAGGATCACCTGAGCCCAGTAATTCCAGAACAGCCTGGGCAACATAGCAAGACCTTGTCTCTATTCATTTAAAAAAAAAAAATGTTAGGGGGATCTCTGGTTGTGGTCCCCCAGCTGTTCCCAGTTGTAAGTCCTTCTATCACATTGAGTCACAGAGCTGTGTTTTGTTTGAGGTGTGATTTGCTGATAATCCCAGTCTCCTCTGCCTTGCAGCCCTTGTGGAATGAGATGGTTATTAATCTGCAGTCCAAACTTTTGACTTTTCGATGATGAGGATAGAATGGGAATCAAAATGACTTTTCCTAAATTGCCTTTTTTTGTTTTCTTAAACTATGGAACCTGCATGTGCTTACTTCTCTGTTCCTGCCCTGAGAGAACACAAAATACATGCTCCTTTTTAACCTGTGAGGAAAAAGCCATCATGCTTAAAACAGAAAGTGTTCTGTATTATCGGGGGAAATTCAGCCAGATATCGGGCAAAATTCACCCCCAATATTTCATGTAGGTTCTTTTCTATTTTCCCTAAGCGTCGGCCGGTTTGAGAAATAAAGGGACAGAGTACAAAAGAGAAATATTTTAAAGCTGGGCATCTGGGGGAGACATCACATGTCGGTAGGTTCTCTGATGCCCCACAAGCCGCAAAACCAGCAAGTTTTTATTAGGGATTTTCAAAAGGGGAGGGAGTATACGAATAAGGTGTGGGTCACAGAGATCACATACTTCACAAGGTAATATAATATCACAAGGCAAATGGAGGCAGGGCGAGATCGCAGGACCACAGGACCAGGGCGAAATTAAAATTGCTAATGAAGTTTTGGGCACCACTGTCATTGATAACATCTTATCAGGAGACAGGGTTTGAGAGCAGACAACTGGTCTGACCAAAATTTATTAGGCGGGAATTTCCTTGTCCTAATAAGCCTGGGGGTGCTATGGGAGACTGGGGCTTATTTCATCCCTACAGTCTCGACCATAGAAGACGGCCACACCCAAGGGGGCCATTTCAGAGACCTACCCTCAGGGGCTCATTCTCTTTCTCAGGGATGTTCCTTG
|
pathogenic
| 318,901 |
Is the genetic mutation found on chromosome 21 at position 37486511, within the gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['DYRK1A-related_intellectual_disability_syndrome']
|
GGATTGCAGGTGCCCCCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGATGGGATTTCACCACGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAATCATGCTGGGATTACAGGCATGAGCTGCTGTACAGGGCCTAATAGCTTACTTTCTAACTTTCCTGACATCTACCATGCAAATTGTAGCCATACAGGCTGCTCTGTAAGCTGATTGGCCCCTGATGACTCAGTCTTTGTGCTCATAGTTAGGTTTTTCTTCTCCCCTTCACCTTAGTTTTCTCATACTCAGATTCCACAGAACAAGTGAGCACAGGAACCCTGTGACGATAGAGTCCTGCTTGACGTTGAACTCCTTTTTCCCAGGGCAGACTGATACTTCCCCTCTTGGGCTGAGGTGTTGTGCAGTGTCCACGTTGAGGTTCAGGTCCTGTCCCTCACCAGAATAGTATCTTCTGTATAGACTTGGTCAGACTTTCTCCACATTCTGTGTCAGGTTATTGTCAAATAAGGGATTTCTCCATTTCCGTAGCCAATACTTACCAATCCTGATTGCGTATTGAAATTTCTTGGGGAGCTTACCCAAAAAATTACTGATGTCTGGGCTCCAGGCCAGTTAAATTCTCTAGGCATTGATGTAAAAGAAAAAAAAAACCTTATTAAATTTGTAATTCATGGTCAAAAACTGGCAGTTAGCCTGTTAACTGTTTGGCAAGTCAGTAGATACTTGGGCCCACATGAGTGTCCTTTATCCTGCAGCCCATCAGGATCTGGGCACTGAACTGCAACTCTTAGTGCAGTCAGTACATCCAGTGAAGCAGAAGCATATCAGAACCCCTTGGCCACATGTTTACAAGGGTAGCCTCTGTTATAAAAGACCACAGAGAGTGTCTTTTAGAATTGAGTGAAACCAGAGATTAGTGCATTTTTTATTCCAAGTTTGATTTCAGTTGAGCCATTCAGAATCTGTCACAGTAGATTTAGCCTTGACTGATGAAGATCTGAGAACATACGTTTCATCCTCTTCCTGACCTTATGGTTTCATCCTGCACCTTGGAATCATTTGGAGTTCCTTCCCCATCCCCAGGCTTTTTGAATGTGCTAGAAAATGTATCTAAAAGAATTACTTATTCAGACAATGTATAATATTATAAATGTAACTTCTATTTTATTAGTTGTAATGGTTGTCACTGGTTAATAAGAGATAACATTTTCTTTTACTTATATATTGATTTTGTAATGTTTATGTAAATCTTTTATAGTAGTATGAACCTCGTTTTAAATGAGTCAGATTTCAAGTGAGAGGTGTTGCATGGTGATGTGTGCTCATGAACGCTGTGCTTTCCTTAGCAGTAATTCTCATTTTAAAACTATCATAATCCCCCAATTATGGCGTTTGTGGCATTGTGGAACTTTACTGGTAATTTGTGTTTGATTTTTTTTTAGTCTAAACCAATTTTTCTTTTATATACTTAGGTTTTTATGTATGAAAATCTAATTGAAAGTTAGAAAGTTATCTGAAGCCTTCTGCTGATAAACTTTTAAATATTTCATACATATTCTTAGGGTTCAGGTATCTCTCATTAAAAGAATAGTTCGATGAGTTGTTTTATAGTGTTATTTAGTAAGAAAGATAAAAAAACCTAAGCATTTGTCAAGAGTCATAATTTATTTCTGAAGGAGGAAAATAGTTAATTTAATTTTATTAAGAAAATTATCTATTTTGTGGATATTTAGAAATATTGTACAAATGCAAAAAGAAATTCAATTTAAAAGATTGATTTAAAGTTACTGTGTAATAAGTGGATATATATTGAATAGAAATAGATGGCATCTCTTCTACTTAGGAAGGTCAGAAAAATAATTATAAAAACATATAATTGAGAATTAGGTAAATGTTATAATTAAGGTGAATTATAAATTATTGTGAAATTTTTGCAATTAATGAAATAGAGAATTATTCATCTTCTCTTTTAGGTTGTAAAGGCATATGATCGTGTGGAGCAAGAATGGGTTGCCATTAAAATAATAAAGAACAAGAAGGCTTTTCTGAATCAAGCACAGATAGAAGTGCGACTTCTTGAGCTCATGAACAAACATGACACTGAAATGAAATACTACATAGGTAAACAAACAGGCAAACAGCGCAGTGTGCCCCAACCCACACCAAAACTTTGAGTTAATGGTTCTTTTCTATCAAAATATTTTGATTTTATTTTAAAGTGGCTGATTAAAAATTTGTTTATTTCTGTTGGACAGCAAGATTTATATAAGTGACTTGATCTGGTAGTAATAGTCTAAATCTTGGGGAATGTGCCTTCCATGTAGCATACCATGTAGAAACAAATGAGAATAGTGTGTGTGTGTTTTTTATTTGCAACTTACTGGTACCATTTGTTTGCTAATAATGATGCATGTTTATCCATAGGGTCATCTTTCCAGTAACTTTAACCATTTCTAATCTAGCTCAGAAACTAGTTGTGAGCTAGTATGTTCTTAGTGGTTGTGGAACCATTTTTGGGGCATCTGCAACAAGATCTCAGGCTCCTCCCCAGTCTCTTCATCAGCTTGGCAGCATTAGAAGCTATTAGATTTACAACTACAGAAAAGAGATAATAGCCACTGCTTATTGAATTTCTACCACATTCCTTATGCTTTTCTTCCATCATCTGTAATAATTTATAGCAGTCTTATAAGGAAGATGGTAGAATCCTTAAGTTATGGTTGGTTTGTATAAGAAGCCCCATACCCAGGGTCATAGGGCTCTGCAGCTAAGATTGGAAGCTGCCGTACTTCTGCCTACTCCAAAGTCTGTTTCATTCTCACATAGTCTTCCTTCTGAAAACAGAAATAGGAGACAGAAGAATTATGACAATACTGAAGTCTAGGGCCATTTGATACATGGGCAAAATATCTTCTAGTACACCTTCTTTCGCAGTATTTTTTAATCAAATCTAATATGTCAGTGATTGTAAGACACCATCATTTTATGTACCGTCAAGGAAAAAACTGTTAAGTATTCATATAAGATGCCATCAATCGAAGATACAGACCTTAAGATCAGCACAGAGCCATAGTCACTTGTGTTCAGAAACACTGACCTTATTTGATACACGTAAGGCTGAGTTTTATTTAACAGATCTTTTAAGAAAACGTTATGATTCTTTGGTCCACCCCAAAAAGGTAGAAACAAATAATGGATCTTTAAAAGGGGCAAGCTTCAGATTGTTTAGATTTTGTTTGTGAAATACTTCTCATTCCTCATTATTAAAATATAAAATGAGTTTCTATTAATTTTTCTTAGTTTCTTTATAGATACTGATATAATTCATAATAATACCATTCTTATCTTAAAACCTTGTCACACACAATGAAACTTTGCTGTTCACTGTCAGTTATAACTTACATGAGGTGACCCATTTCCATTCAAGGGTTTTAGAAGCACATCAAGGACATTCTAAGGATGATTGACTTACACAATGATCTCTGAACATGCCTCCTGCCTTCTCCTCACTCTTGAGTATTTGCTTAGGGGAGCAGAAAAAATACTGGTAGCATTACTGTAACATTTTAATTCTGCTTTATTTAAAAAAGACATAGCTGGCATATAGTTAAGTACTGAAAAATGTTAGCTACTCAGTTATGTATAATGCTAGTATTTTGTTTTGAATAAAGTTGACATTAATGATCATATTATTAATTGTATTAGTTATTACAGATACTCTTTGGATGAGTTTTTAAATTCTTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGTAGCCAAATTTCTTATCTGGATTATTTGGTACCTGCCATGGTCTAGTTAAAAGAAAATTTAGTTGAAGTCTTCAACAAAG
|
GGATTGCAGGTGCCCCCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGATGGGATTTCACCACGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAATCATGCTGGGATTACAGGCATGAGCTGCTGTACAGGGCCTAATAGCTTACTTTCTAACTTTCCTGACATCTACCATGCAAATTGTAGCCATACAGGCTGCTCTGTAAGCTGATTGGCCCCTGATGACTCAGTCTTTGTGCTCATAGTTAGGTTTTTCTTCTCCCCTTCACCTTAGTTTTCTCATACTCAGATTCCACAGAACAAGTGAGCACAGGAACCCTGTGACGATAGAGTCCTGCTTGACGTTGAACTCCTTTTTCCCAGGGCAGACTGATACTTCCCCTCTTGGGCTGAGGTGTTGTGCAGTGTCCACGTTGAGGTTCAGGTCCTGTCCCTCACCAGAATAGTATCTTCTGTATAGACTTGGTCAGACTTTCTCCACATTCTGTGTCAGGTTATTGTCAAATAAGGGATTTCTCCATTTCCGTAGCCAATACTTACCAATCCTGATTGCGTATTGAAATTTCTTGGGGAGCTTACCCAAAAAATTACTGATGTCTGGGCTCCAGGCCAGTTAAATTCTCTAGGCATTGATGTAAAAGAAAAAAAAAACCTTATTAAATTTGTAATTCATGGTCAAAAACTGGCAGTTAGCCTGTTAACTGTTTGGCAAGTCAGTAGATACTTGGGCCCACATGAGTGTCCTTTATCCTGCAGCCCATCAGGATCTGGGCACTGAACTGCAACTCTTAGTGCAGTCAGTACATCCAGTGAAGCAGAAGCATATCAGAACCCCTTGGCCACATGTTTACAAGGGTAGCCTCTGTTATAAAAGACCACAGAGAGTGTCTTTTAGAATTGAGTGAAACCAGAGATTAGTGCATTTTTTATTCCAAGTTTGATTTCAGTTGAGCCATTCAGAATCTGTCACAGTAGATTTAGCCTTGACTGATGAAGATCTGAGAACATACGTTTCATCCTCTTCCTGACCTTATGGTTTCATCCTGCACCTTGGAATCATTTGGAGTTCCTTCCCCATCCCCAGGCTTTTTGAATGTGCTAGAAAATGTATCTAAAAGAATTACTTATTCAGACAATGTATAATATTATAAATGTAACTTCTATTTTATTAGTTGTAATGGTTGTCACTGGTTAATAAGAGATAACATTTTCTTTTACTTATATATTGATTTTGTAATGTTTATGTAAATCTTTTATAGTAGTATGAACCTCGTTTTAAATGAGTCAGATTTCAAGTGAGAGGTGTTGCATGGTGATGTGTGCTCATGAACGCTGTGCTTTCCTTAGCAGTAATTCTCATTTTAAAACTATCATAATCCCCCAATTATGGCGTTTGTGGCATTGTGGAACTTTACTGGTAATTTGTGTTTGATTTTTTTTTAGTCTAAACCAATTTTTCTTTTATATACTTAGGTTTTTATGTATGAAAATCTAATTGAAAGTTAGAAAGTTATCTGAAGCCTTCTGCTGATAAACTTTTAAATATTTCATACATATTCTTAGGGTTCAGGTATCTCTCATTAAAAGAATAGTTCGATGAGTTGTTTTATAGTGTTATTTAGTAAGAAAGATAAAAAAACCTAAGCATTTGTCAAGAGTCATAATTTATTTCTGAAGGAGGAAAATAGTTAATTTAATTTTATTAAGAAAATTATCTATTTTGTGGATATTTAGAAATATTGTACAAATGCAAAAAGAAATTCAATTTAAAAGATTGATTTAAAGTTACTGTGTAATAAGTGGATATATATTGAATAGAAATAGATGGCATCTCTTCTACTTAGGAAGGTCAGAAAAATAATTATAAAAACATATAATTGAGAATTAGGTAAATGTTATAATTAAGGTGAATTATAAATTATTGTGAAATTTTTGCAATTAATGAAATAGAGAATTATTCATCTTCTCTTTTAGGTTGTAAAGGCATATGATCGTGTGGAGCAAGAATGGGTTGCCATTATAATAAAGAACAAGAAGGCTTTTCTGAATCAAGCACAGATAGAAGTGCGACTTCTTGAGCTCATGAACAAACATGACACTGAAATGAAATACTACATAGGTAAACAAACAGGCAAACAGCGCAGTGTGCCCCAACCCACACCAAAACTTTGAGTTAATGGTTCTTTTCTATCAAAATATTTTGATTTTATTTTAAAGTGGCTGATTAAAAATTTGTTTATTTCTGTTGGACAGCAAGATTTATATAAGTGACTTGATCTGGTAGTAATAGTCTAAATCTTGGGGAATGTGCCTTCCATGTAGCATACCATGTAGAAACAAATGAGAATAGTGTGTGTGTGTTTTTTATTTGCAACTTACTGGTACCATTTGTTTGCTAATAATGATGCATGTTTATCCATAGGGTCATCTTTCCAGTAACTTTAACCATTTCTAATCTAGCTCAGAAACTAGTTGTGAGCTAGTATGTTCTTAGTGGTTGTGGAACCATTTTTGGGGCATCTGCAACAAGATCTCAGGCTCCTCCCCAGTCTCTTCATCAGCTTGGCAGCATTAGAAGCTATTAGATTTACAACTACAGAAAAGAGATAATAGCCACTGCTTATTGAATTTCTACCACATTCCTTATGCTTTTCTTCCATCATCTGTAATAATTTATAGCAGTCTTATAAGGAAGATGGTAGAATCCTTAAGTTATGGTTGGTTTGTATAAGAAGCCCCATACCCAGGGTCATAGGGCTCTGCAGCTAAGATTGGAAGCTGCCGTACTTCTGCCTACTCCAAAGTCTGTTTCATTCTCACATAGTCTTCCTTCTGAAAACAGAAATAGGAGACAGAAGAATTATGACAATACTGAAGTCTAGGGCCATTTGATACATGGGCAAAATATCTTCTAGTACACCTTCTTTCGCAGTATTTTTTAATCAAATCTAATATGTCAGTGATTGTAAGACACCATCATTTTATGTACCGTCAAGGAAAAAACTGTTAAGTATTCATATAAGATGCCATCAATCGAAGATACAGACCTTAAGATCAGCACAGAGCCATAGTCACTTGTGTTCAGAAACACTGACCTTATTTGATACACGTAAGGCTGAGTTTTATTTAACAGATCTTTTAAGAAAACGTTATGATTCTTTGGTCCACCCCAAAAAGGTAGAAACAAATAATGGATCTTTAAAAGGGGCAAGCTTCAGATTGTTTAGATTTTGTTTGTGAAATACTTCTCATTCCTCATTATTAAAATATAAAATGAGTTTCTATTAATTTTTCTTAGTTTCTTTATAGATACTGATATAATTCATAATAATACCATTCTTATCTTAAAACCTTGTCACACACAATGAAACTTTGCTGTTCACTGTCAGTTATAACTTACATGAGGTGACCCATTTCCATTCAAGGGTTTTAGAAGCACATCAAGGACATTCTAAGGATGATTGACTTACACAATGATCTCTGAACATGCCTCCTGCCTTCTCCTCACTCTTGAGTATTTGCTTAGGGGAGCAGAAAAAATACTGGTAGCATTACTGTAACATTTTAATTCTGCTTTATTTAAAAAAGACATAGCTGGCATATAGTTAAGTACTGAAAAATGTTAGCTACTCAGTTATGTATAATGCTAGTATTTTGTTTTGAATAAAGTTGACATTAATGATCATATTATTAATTGTATTAGTTATTACAGATACTCTTTGGATGAGTTTTTAAATTCTTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGTAGCCAAATTTCTTATCTGGATTATTTGGTACCTGCCATGGTCTAGTTAAAAGAAAATTTAGTTGAAGTCTTCAACAAAGNNN
|
pathogenic
| 318,910 |
The chromosome 21, position 37486516 genetic variant in gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['DYRK1A-related_intellectual_disability_syndrome']
|
GCAGGTGCCCCCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGATGGGATTTCACCACGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAATCATGCTGGGATTACAGGCATGAGCTGCTGTACAGGGCCTAATAGCTTACTTTCTAACTTTCCTGACATCTACCATGCAAATTGTAGCCATACAGGCTGCTCTGTAAGCTGATTGGCCCCTGATGACTCAGTCTTTGTGCTCATAGTTAGGTTTTTCTTCTCCCCTTCACCTTAGTTTTCTCATACTCAGATTCCACAGAACAAGTGAGCACAGGAACCCTGTGACGATAGAGTCCTGCTTGACGTTGAACTCCTTTTTCCCAGGGCAGACTGATACTTCCCCTCTTGGGCTGAGGTGTTGTGCAGTGTCCACGTTGAGGTTCAGGTCCTGTCCCTCACCAGAATAGTATCTTCTGTATAGACTTGGTCAGACTTTCTCCACATTCTGTGTCAGGTTATTGTCAAATAAGGGATTTCTCCATTTCCGTAGCCAATACTTACCAATCCTGATTGCGTATTGAAATTTCTTGGGGAGCTTACCCAAAAAATTACTGATGTCTGGGCTCCAGGCCAGTTAAATTCTCTAGGCATTGATGTAAAAGAAAAAAAAAACCTTATTAAATTTGTAATTCATGGTCAAAAACTGGCAGTTAGCCTGTTAACTGTTTGGCAAGTCAGTAGATACTTGGGCCCACATGAGTGTCCTTTATCCTGCAGCCCATCAGGATCTGGGCACTGAACTGCAACTCTTAGTGCAGTCAGTACATCCAGTGAAGCAGAAGCATATCAGAACCCCTTGGCCACATGTTTACAAGGGTAGCCTCTGTTATAAAAGACCACAGAGAGTGTCTTTTAGAATTGAGTGAAACCAGAGATTAGTGCATTTTTTATTCCAAGTTTGATTTCAGTTGAGCCATTCAGAATCTGTCACAGTAGATTTAGCCTTGACTGATGAAGATCTGAGAACATACGTTTCATCCTCTTCCTGACCTTATGGTTTCATCCTGCACCTTGGAATCATTTGGAGTTCCTTCCCCATCCCCAGGCTTTTTGAATGTGCTAGAAAATGTATCTAAAAGAATTACTTATTCAGACAATGTATAATATTATAAATGTAACTTCTATTTTATTAGTTGTAATGGTTGTCACTGGTTAATAAGAGATAACATTTTCTTTTACTTATATATTGATTTTGTAATGTTTATGTAAATCTTTTATAGTAGTATGAACCTCGTTTTAAATGAGTCAGATTTCAAGTGAGAGGTGTTGCATGGTGATGTGTGCTCATGAACGCTGTGCTTTCCTTAGCAGTAATTCTCATTTTAAAACTATCATAATCCCCCAATTATGGCGTTTGTGGCATTGTGGAACTTTACTGGTAATTTGTGTTTGATTTTTTTTTAGTCTAAACCAATTTTTCTTTTATATACTTAGGTTTTTATGTATGAAAATCTAATTGAAAGTTAGAAAGTTATCTGAAGCCTTCTGCTGATAAACTTTTAAATATTTCATACATATTCTTAGGGTTCAGGTATCTCTCATTAAAAGAATAGTTCGATGAGTTGTTTTATAGTGTTATTTAGTAAGAAAGATAAAAAAACCTAAGCATTTGTCAAGAGTCATAATTTATTTCTGAAGGAGGAAAATAGTTAATTTAATTTTATTAAGAAAATTATCTATTTTGTGGATATTTAGAAATATTGTACAAATGCAAAAAGAAATTCAATTTAAAAGATTGATTTAAAGTTACTGTGTAATAAGTGGATATATATTGAATAGAAATAGATGGCATCTCTTCTACTTAGGAAGGTCAGAAAAATAATTATAAAAACATATAATTGAGAATTAGGTAAATGTTATAATTAAGGTGAATTATAAATTATTGTGAAATTTTTGCAATTAATGAAATAGAGAATTATTCATCTTCTCTTTTAGGTTGTAAAGGCATATGATCGTGTGGAGCAAGAATGGGTTGCCATTAAAATAATAAAGAACAAGAAGGCTTTTCTGAATCAAGCACAGATAGAAGTGCGACTTCTTGAGCTCATGAACAAACATGACACTGAAATGAAATACTACATAGGTAAACAAACAGGCAAACAGCGCAGTGTGCCCCAACCCACACCAAAACTTTGAGTTAATGGTTCTTTTCTATCAAAATATTTTGATTTTATTTTAAAGTGGCTGATTAAAAATTTGTTTATTTCTGTTGGACAGCAAGATTTATATAAGTGACTTGATCTGGTAGTAATAGTCTAAATCTTGGGGAATGTGCCTTCCATGTAGCATACCATGTAGAAACAAATGAGAATAGTGTGTGTGTGTTTTTTATTTGCAACTTACTGGTACCATTTGTTTGCTAATAATGATGCATGTTTATCCATAGGGTCATCTTTCCAGTAACTTTAACCATTTCTAATCTAGCTCAGAAACTAGTTGTGAGCTAGTATGTTCTTAGTGGTTGTGGAACCATTTTTGGGGCATCTGCAACAAGATCTCAGGCTCCTCCCCAGTCTCTTCATCAGCTTGGCAGCATTAGAAGCTATTAGATTTACAACTACAGAAAAGAGATAATAGCCACTGCTTATTGAATTTCTACCACATTCCTTATGCTTTTCTTCCATCATCTGTAATAATTTATAGCAGTCTTATAAGGAAGATGGTAGAATCCTTAAGTTATGGTTGGTTTGTATAAGAAGCCCCATACCCAGGGTCATAGGGCTCTGCAGCTAAGATTGGAAGCTGCCGTACTTCTGCCTACTCCAAAGTCTGTTTCATTCTCACATAGTCTTCCTTCTGAAAACAGAAATAGGAGACAGAAGAATTATGACAATACTGAAGTCTAGGGCCATTTGATACATGGGCAAAATATCTTCTAGTACACCTTCTTTCGCAGTATTTTTTAATCAAATCTAATATGTCAGTGATTGTAAGACACCATCATTTTATGTACCGTCAAGGAAAAAACTGTTAAGTATTCATATAAGATGCCATCAATCGAAGATACAGACCTTAAGATCAGCACAGAGCCATAGTCACTTGTGTTCAGAAACACTGACCTTATTTGATACACGTAAGGCTGAGTTTTATTTAACAGATCTTTTAAGAAAACGTTATGATTCTTTGGTCCACCCCAAAAAGGTAGAAACAAATAATGGATCTTTAAAAGGGGCAAGCTTCAGATTGTTTAGATTTTGTTTGTGAAATACTTCTCATTCCTCATTATTAAAATATAAAATGAGTTTCTATTAATTTTTCTTAGTTTCTTTATAGATACTGATATAATTCATAATAATACCATTCTTATCTTAAAACCTTGTCACACACAATGAAACTTTGCTGTTCACTGTCAGTTATAACTTACATGAGGTGACCCATTTCCATTCAAGGGTTTTAGAAGCACATCAAGGACATTCTAAGGATGATTGACTTACACAATGATCTCTGAACATGCCTCCTGCCTTCTCCTCACTCTTGAGTATTTGCTTAGGGGAGCAGAAAAAATACTGGTAGCATTACTGTAACATTTTAATTCTGCTTTATTTAAAAAAGACATAGCTGGCATATAGTTAAGTACTGAAAAATGTTAGCTACTCAGTTATGTATAATGCTAGTATTTTGTTTTGAATAAAGTTGACATTAATGATCATATTATTAATTGTATTAGTTATTACAGATACTCTTTGGATGAGTTTTTAAATTCTTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGTAGCCAAATTTCTTATCTGGATTATTTGGTACCTGCCATGGTCTAGTTAAAAGAAAATTTAGTTGAAGTCTTCAACAAAGTCTTG
|
GCAGGTGCCCCCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGATGGGATTTCACCACGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAATCATGCTGGGATTACAGGCATGAGCTGCTGTACAGGGCCTAATAGCTTACTTTCTAACTTTCCTGACATCTACCATGCAAATTGTAGCCATACAGGCTGCTCTGTAAGCTGATTGGCCCCTGATGACTCAGTCTTTGTGCTCATAGTTAGGTTTTTCTTCTCCCCTTCACCTTAGTTTTCTCATACTCAGATTCCACAGAACAAGTGAGCACAGGAACCCTGTGACGATAGAGTCCTGCTTGACGTTGAACTCCTTTTTCCCAGGGCAGACTGATACTTCCCCTCTTGGGCTGAGGTGTTGTGCAGTGTCCACGTTGAGGTTCAGGTCCTGTCCCTCACCAGAATAGTATCTTCTGTATAGACTTGGTCAGACTTTCTCCACATTCTGTGTCAGGTTATTGTCAAATAAGGGATTTCTCCATTTCCGTAGCCAATACTTACCAATCCTGATTGCGTATTGAAATTTCTTGGGGAGCTTACCCAAAAAATTACTGATGTCTGGGCTCCAGGCCAGTTAAATTCTCTAGGCATTGATGTAAAAGAAAAAAAAAACCTTATTAAATTTGTAATTCATGGTCAAAAACTGGCAGTTAGCCTGTTAACTGTTTGGCAAGTCAGTAGATACTTGGGCCCACATGAGTGTCCTTTATCCTGCAGCCCATCAGGATCTGGGCACTGAACTGCAACTCTTAGTGCAGTCAGTACATCCAGTGAAGCAGAAGCATATCAGAACCCCTTGGCCACATGTTTACAAGGGTAGCCTCTGTTATAAAAGACCACAGAGAGTGTCTTTTAGAATTGAGTGAAACCAGAGATTAGTGCATTTTTTATTCCAAGTTTGATTTCAGTTGAGCCATTCAGAATCTGTCACAGTAGATTTAGCCTTGACTGATGAAGATCTGAGAACATACGTTTCATCCTCTTCCTGACCTTATGGTTTCATCCTGCACCTTGGAATCATTTGGAGTTCCTTCCCCATCCCCAGGCTTTTTGAATGTGCTAGAAAATGTATCTAAAAGAATTACTTATTCAGACAATGTATAATATTATAAATGTAACTTCTATTTTATTAGTTGTAATGGTTGTCACTGGTTAATAAGAGATAACATTTTCTTTTACTTATATATTGATTTTGTAATGTTTATGTAAATCTTTTATAGTAGTATGAACCTCGTTTTAAATGAGTCAGATTTCAAGTGAGAGGTGTTGCATGGTGATGTGTGCTCATGAACGCTGTGCTTTCCTTAGCAGTAATTCTCATTTTAAAACTATCATAATCCCCCAATTATGGCGTTTGTGGCATTGTGGAACTTTACTGGTAATTTGTGTTTGATTTTTTTTTAGTCTAAACCAATTTTTCTTTTATATACTTAGGTTTTTATGTATGAAAATCTAATTGAAAGTTAGAAAGTTATCTGAAGCCTTCTGCTGATAAACTTTTAAATATTTCATACATATTCTTAGGGTTCAGGTATCTCTCATTAAAAGAATAGTTCGATGAGTTGTTTTATAGTGTTATTTAGTAAGAAAGATAAAAAAACCTAAGCATTTGTCAAGAGTCATAATTTATTTCTGAAGGAGGAAAATAGTTAATTTAATTTTATTAAGAAAATTATCTATTTTGTGGATATTTAGAAATATTGTACAAATGCAAAAAGAAATTCAATTTAAAAGATTGATTTAAAGTTACTGTGTAATAAGTGGATATATATTGAATAGAAATAGATGGCATCTCTTCTACTTAGGAAGGTCAGAAAAATAATTATAAAAACATATAATTGAGAATTAGGTAAATGTTATAATTAAGGTGAATTATAAATTATTGTGAAATTTTTGCAATTAATGAAATAGAGAATTATTCATCTTCTCTTTTAGGTTGTAAAGGCATATGATCGTGTGGAGCAAGAATGGGTTGCCATTAAAATAAGAACAAGAAGGCTTTTCTGAATCAAGCACAGATAGAAGTGCGACTTCTTGAGCTCATGAACAAACATGACACTGAAATGAAATACTACATAGGTAAACAAACAGGCAAACAGCGCAGTGTGCCCCAACCCACACCAAAACTTTGAGTTAATGGTTCTTTTCTATCAAAATATTTTGATTTTATTTTAAAGTGGCTGATTAAAAATTTGTTTATTTCTGTTGGACAGCAAGATTTATATAAGTGACTTGATCTGGTAGTAATAGTCTAAATCTTGGGGAATGTGCCTTCCATGTAGCATACCATGTAGAAACAAATGAGAATAGTGTGTGTGTGTTTTTTATTTGCAACTTACTGGTACCATTTGTTTGCTAATAATGATGCATGTTTATCCATAGGGTCATCTTTCCAGTAACTTTAACCATTTCTAATCTAGCTCAGAAACTAGTTGTGAGCTAGTATGTTCTTAGTGGTTGTGGAACCATTTTTGGGGCATCTGCAACAAGATCTCAGGCTCCTCCCCAGTCTCTTCATCAGCTTGGCAGCATTAGAAGCTATTAGATTTACAACTACAGAAAAGAGATAATAGCCACTGCTTATTGAATTTCTACCACATTCCTTATGCTTTTCTTCCATCATCTGTAATAATTTATAGCAGTCTTATAAGGAAGATGGTAGAATCCTTAAGTTATGGTTGGTTTGTATAAGAAGCCCCATACCCAGGGTCATAGGGCTCTGCAGCTAAGATTGGAAGCTGCCGTACTTCTGCCTACTCCAAAGTCTGTTTCATTCTCACATAGTCTTCCTTCTGAAAACAGAAATAGGAGACAGAAGAATTATGACAATACTGAAGTCTAGGGCCATTTGATACATGGGCAAAATATCTTCTAGTACACCTTCTTTCGCAGTATTTTTTAATCAAATCTAATATGTCAGTGATTGTAAGACACCATCATTTTATGTACCGTCAAGGAAAAAACTGTTAAGTATTCATATAAGATGCCATCAATCGAAGATACAGACCTTAAGATCAGCACAGAGCCATAGTCACTTGTGTTCAGAAACACTGACCTTATTTGATACACGTAAGGCTGAGTTTTATTTAACAGATCTTTTAAGAAAACGTTATGATTCTTTGGTCCACCCCAAAAAGGTAGAAACAAATAATGGATCTTTAAAAGGGGCAAGCTTCAGATTGTTTAGATTTTGTTTGTGAAATACTTCTCATTCCTCATTATTAAAATATAAAATGAGTTTCTATTAATTTTTCTTAGTTTCTTTATAGATACTGATATAATTCATAATAATACCATTCTTATCTTAAAACCTTGTCACACACAATGAAACTTTGCTGTTCACTGTCAGTTATAACTTACATGAGGTGACCCATTTCCATTCAAGGGTTTTAGAAGCACATCAAGGACATTCTAAGGATGATTGACTTACACAATGATCTCTGAACATGCCTCCTGCCTTCTCCTCACTCTTGAGTATTTGCTTAGGGGAGCAGAAAAAATACTGGTAGCATTACTGTAACATTTTAATTCTGCTTTATTTAAAAAAGACATAGCTGGCATATAGTTAAGTACTGAAAAATGTTAGCTACTCAGTTATGTATAATGCTAGTATTTTGTTTTGAATAAAGTTGACATTAATGATCATATTATTAATTGTATTAGTTATTACAGATACTCTTTGGATGAGTTTTTAAATTCTTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGTAGCCAAATTTCTTATCTGGATTATTTGGTACCTGCCATGGTCTAGTTAAAAGAAAATTTAGTTGAAGTCTTCAACAAAGTCTTGNNNN
|
pathogenic
| 318,911 |
Is the genetic change at chromosome 21, position 37486519, within gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Complex_neurodevelopmental_disorder', 'DYRK1A-related_intellectual_disability_syndrome']
|
GGTGCCCCCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGATGGGATTTCACCACGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAATCATGCTGGGATTACAGGCATGAGCTGCTGTACAGGGCCTAATAGCTTACTTTCTAACTTTCCTGACATCTACCATGCAAATTGTAGCCATACAGGCTGCTCTGTAAGCTGATTGGCCCCTGATGACTCAGTCTTTGTGCTCATAGTTAGGTTTTTCTTCTCCCCTTCACCTTAGTTTTCTCATACTCAGATTCCACAGAACAAGTGAGCACAGGAACCCTGTGACGATAGAGTCCTGCTTGACGTTGAACTCCTTTTTCCCAGGGCAGACTGATACTTCCCCTCTTGGGCTGAGGTGTTGTGCAGTGTCCACGTTGAGGTTCAGGTCCTGTCCCTCACCAGAATAGTATCTTCTGTATAGACTTGGTCAGACTTTCTCCACATTCTGTGTCAGGTTATTGTCAAATAAGGGATTTCTCCATTTCCGTAGCCAATACTTACCAATCCTGATTGCGTATTGAAATTTCTTGGGGAGCTTACCCAAAAAATTACTGATGTCTGGGCTCCAGGCCAGTTAAATTCTCTAGGCATTGATGTAAAAGAAAAAAAAAACCTTATTAAATTTGTAATTCATGGTCAAAAACTGGCAGTTAGCCTGTTAACTGTTTGGCAAGTCAGTAGATACTTGGGCCCACATGAGTGTCCTTTATCCTGCAGCCCATCAGGATCTGGGCACTGAACTGCAACTCTTAGTGCAGTCAGTACATCCAGTGAAGCAGAAGCATATCAGAACCCCTTGGCCACATGTTTACAAGGGTAGCCTCTGTTATAAAAGACCACAGAGAGTGTCTTTTAGAATTGAGTGAAACCAGAGATTAGTGCATTTTTTATTCCAAGTTTGATTTCAGTTGAGCCATTCAGAATCTGTCACAGTAGATTTAGCCTTGACTGATGAAGATCTGAGAACATACGTTTCATCCTCTTCCTGACCTTATGGTTTCATCCTGCACCTTGGAATCATTTGGAGTTCCTTCCCCATCCCCAGGCTTTTTGAATGTGCTAGAAAATGTATCTAAAAGAATTACTTATTCAGACAATGTATAATATTATAAATGTAACTTCTATTTTATTAGTTGTAATGGTTGTCACTGGTTAATAAGAGATAACATTTTCTTTTACTTATATATTGATTTTGTAATGTTTATGTAAATCTTTTATAGTAGTATGAACCTCGTTTTAAATGAGTCAGATTTCAAGTGAGAGGTGTTGCATGGTGATGTGTGCTCATGAACGCTGTGCTTTCCTTAGCAGTAATTCTCATTTTAAAACTATCATAATCCCCCAATTATGGCGTTTGTGGCATTGTGGAACTTTACTGGTAATTTGTGTTTGATTTTTTTTTAGTCTAAACCAATTTTTCTTTTATATACTTAGGTTTTTATGTATGAAAATCTAATTGAAAGTTAGAAAGTTATCTGAAGCCTTCTGCTGATAAACTTTTAAATATTTCATACATATTCTTAGGGTTCAGGTATCTCTCATTAAAAGAATAGTTCGATGAGTTGTTTTATAGTGTTATTTAGTAAGAAAGATAAAAAAACCTAAGCATTTGTCAAGAGTCATAATTTATTTCTGAAGGAGGAAAATAGTTAATTTAATTTTATTAAGAAAATTATCTATTTTGTGGATATTTAGAAATATTGTACAAATGCAAAAAGAAATTCAATTTAAAAGATTGATTTAAAGTTACTGTGTAATAAGTGGATATATATTGAATAGAAATAGATGGCATCTCTTCTACTTAGGAAGGTCAGAAAAATAATTATAAAAACATATAATTGAGAATTAGGTAAATGTTATAATTAAGGTGAATTATAAATTATTGTGAAATTTTTGCAATTAATGAAATAGAGAATTATTCATCTTCTCTTTTAGGTTGTAAAGGCATATGATCGTGTGGAGCAAGAATGGGTTGCCATTAAAATAATAAAGAACAAGAAGGCTTTTCTGAATCAAGCACAGATAGAAGTGCGACTTCTTGAGCTCATGAACAAACATGACACTGAAATGAAATACTACATAGGTAAACAAACAGGCAAACAGCGCAGTGTGCCCCAACCCACACCAAAACTTTGAGTTAATGGTTCTTTTCTATCAAAATATTTTGATTTTATTTTAAAGTGGCTGATTAAAAATTTGTTTATTTCTGTTGGACAGCAAGATTTATATAAGTGACTTGATCTGGTAGTAATAGTCTAAATCTTGGGGAATGTGCCTTCCATGTAGCATACCATGTAGAAACAAATGAGAATAGTGTGTGTGTGTTTTTTATTTGCAACTTACTGGTACCATTTGTTTGCTAATAATGATGCATGTTTATCCATAGGGTCATCTTTCCAGTAACTTTAACCATTTCTAATCTAGCTCAGAAACTAGTTGTGAGCTAGTATGTTCTTAGTGGTTGTGGAACCATTTTTGGGGCATCTGCAACAAGATCTCAGGCTCCTCCCCAGTCTCTTCATCAGCTTGGCAGCATTAGAAGCTATTAGATTTACAACTACAGAAAAGAGATAATAGCCACTGCTTATTGAATTTCTACCACATTCCTTATGCTTTTCTTCCATCATCTGTAATAATTTATAGCAGTCTTATAAGGAAGATGGTAGAATCCTTAAGTTATGGTTGGTTTGTATAAGAAGCCCCATACCCAGGGTCATAGGGCTCTGCAGCTAAGATTGGAAGCTGCCGTACTTCTGCCTACTCCAAAGTCTGTTTCATTCTCACATAGTCTTCCTTCTGAAAACAGAAATAGGAGACAGAAGAATTATGACAATACTGAAGTCTAGGGCCATTTGATACATGGGCAAAATATCTTCTAGTACACCTTCTTTCGCAGTATTTTTTAATCAAATCTAATATGTCAGTGATTGTAAGACACCATCATTTTATGTACCGTCAAGGAAAAAACTGTTAAGTATTCATATAAGATGCCATCAATCGAAGATACAGACCTTAAGATCAGCACAGAGCCATAGTCACTTGTGTTCAGAAACACTGACCTTATTTGATACACGTAAGGCTGAGTTTTATTTAACAGATCTTTTAAGAAAACGTTATGATTCTTTGGTCCACCCCAAAAAGGTAGAAACAAATAATGGATCTTTAAAAGGGGCAAGCTTCAGATTGTTTAGATTTTGTTTGTGAAATACTTCTCATTCCTCATTATTAAAATATAAAATGAGTTTCTATTAATTTTTCTTAGTTTCTTTATAGATACTGATATAATTCATAATAATACCATTCTTATCTTAAAACCTTGTCACACACAATGAAACTTTGCTGTTCACTGTCAGTTATAACTTACATGAGGTGACCCATTTCCATTCAAGGGTTTTAGAAGCACATCAAGGACATTCTAAGGATGATTGACTTACACAATGATCTCTGAACATGCCTCCTGCCTTCTCCTCACTCTTGAGTATTTGCTTAGGGGAGCAGAAAAAATACTGGTAGCATTACTGTAACATTTTAATTCTGCTTTATTTAAAAAAGACATAGCTGGCATATAGTTAAGTACTGAAAAATGTTAGCTACTCAGTTATGTATAATGCTAGTATTTTGTTTTGAATAAAGTTGACATTAATGATCATATTATTAATTGTATTAGTTATTACAGATACTCTTTGGATGAGTTTTTAAATTCTTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGTAGCCAAATTTCTTATCTGGATTATTTGGTACCTGCCATGGTCTAGTTAAAAGAAAATTTAGTTGAAGTCTTCAACAAAGTCTTGCCA
|
GGTGCCCCCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGATGGGATTTCACCACGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAATCATGCTGGGATTACAGGCATGAGCTGCTGTACAGGGCCTAATAGCTTACTTTCTAACTTTCCTGACATCTACCATGCAAATTGTAGCCATACAGGCTGCTCTGTAAGCTGATTGGCCCCTGATGACTCAGTCTTTGTGCTCATAGTTAGGTTTTTCTTCTCCCCTTCACCTTAGTTTTCTCATACTCAGATTCCACAGAACAAGTGAGCACAGGAACCCTGTGACGATAGAGTCCTGCTTGACGTTGAACTCCTTTTTCCCAGGGCAGACTGATACTTCCCCTCTTGGGCTGAGGTGTTGTGCAGTGTCCACGTTGAGGTTCAGGTCCTGTCCCTCACCAGAATAGTATCTTCTGTATAGACTTGGTCAGACTTTCTCCACATTCTGTGTCAGGTTATTGTCAAATAAGGGATTTCTCCATTTCCGTAGCCAATACTTACCAATCCTGATTGCGTATTGAAATTTCTTGGGGAGCTTACCCAAAAAATTACTGATGTCTGGGCTCCAGGCCAGTTAAATTCTCTAGGCATTGATGTAAAAGAAAAAAAAAACCTTATTAAATTTGTAATTCATGGTCAAAAACTGGCAGTTAGCCTGTTAACTGTTTGGCAAGTCAGTAGATACTTGGGCCCACATGAGTGTCCTTTATCCTGCAGCCCATCAGGATCTGGGCACTGAACTGCAACTCTTAGTGCAGTCAGTACATCCAGTGAAGCAGAAGCATATCAGAACCCCTTGGCCACATGTTTACAAGGGTAGCCTCTGTTATAAAAGACCACAGAGAGTGTCTTTTAGAATTGAGTGAAACCAGAGATTAGTGCATTTTTTATTCCAAGTTTGATTTCAGTTGAGCCATTCAGAATCTGTCACAGTAGATTTAGCCTTGACTGATGAAGATCTGAGAACATACGTTTCATCCTCTTCCTGACCTTATGGTTTCATCCTGCACCTTGGAATCATTTGGAGTTCCTTCCCCATCCCCAGGCTTTTTGAATGTGCTAGAAAATGTATCTAAAAGAATTACTTATTCAGACAATGTATAATATTATAAATGTAACTTCTATTTTATTAGTTGTAATGGTTGTCACTGGTTAATAAGAGATAACATTTTCTTTTACTTATATATTGATTTTGTAATGTTTATGTAAATCTTTTATAGTAGTATGAACCTCGTTTTAAATGAGTCAGATTTCAAGTGAGAGGTGTTGCATGGTGATGTGTGCTCATGAACGCTGTGCTTTCCTTAGCAGTAATTCTCATTTTAAAACTATCATAATCCCCCAATTATGGCGTTTGTGGCATTGTGGAACTTTACTGGTAATTTGTGTTTGATTTTTTTTTAGTCTAAACCAATTTTTCTTTTATATACTTAGGTTTTTATGTATGAAAATCTAATTGAAAGTTAGAAAGTTATCTGAAGCCTTCTGCTGATAAACTTTTAAATATTTCATACATATTCTTAGGGTTCAGGTATCTCTCATTAAAAGAATAGTTCGATGAGTTGTTTTATAGTGTTATTTAGTAAGAAAGATAAAAAAACCTAAGCATTTGTCAAGAGTCATAATTTATTTCTGAAGGAGGAAAATAGTTAATTTAATTTTATTAAGAAAATTATCTATTTTGTGGATATTTAGAAATATTGTACAAATGCAAAAAGAAATTCAATTTAAAAGATTGATTTAAAGTTACTGTGTAATAAGTGGATATATATTGAATAGAAATAGATGGCATCTCTTCTACTTAGGAAGGTCAGAAAAATAATTATAAAAACATATAATTGAGAATTAGGTAAATGTTATAATTAAGGTGAATTATAAATTATTGTGAAATTTTTGCAATTAATGAAATAGAGAATTATTCATCTTCTCTTTTAGGTTGTAAAGGCATATGATCGTGTGGAGCAAGAATGGGTTGCCATTAAAATAATAACAAGAAGGCTTTTCTGAATCAAGCACAGATAGAAGTGCGACTTCTTGAGCTCATGAACAAACATGACACTGAAATGAAATACTACATAGGTAAACAAACAGGCAAACAGCGCAGTGTGCCCCAACCCACACCAAAACTTTGAGTTAATGGTTCTTTTCTATCAAAATATTTTGATTTTATTTTAAAGTGGCTGATTAAAAATTTGTTTATTTCTGTTGGACAGCAAGATTTATATAAGTGACTTGATCTGGTAGTAATAGTCTAAATCTTGGGGAATGTGCCTTCCATGTAGCATACCATGTAGAAACAAATGAGAATAGTGTGTGTGTGTTTTTTATTTGCAACTTACTGGTACCATTTGTTTGCTAATAATGATGCATGTTTATCCATAGGGTCATCTTTCCAGTAACTTTAACCATTTCTAATCTAGCTCAGAAACTAGTTGTGAGCTAGTATGTTCTTAGTGGTTGTGGAACCATTTTTGGGGCATCTGCAACAAGATCTCAGGCTCCTCCCCAGTCTCTTCATCAGCTTGGCAGCATTAGAAGCTATTAGATTTACAACTACAGAAAAGAGATAATAGCCACTGCTTATTGAATTTCTACCACATTCCTTATGCTTTTCTTCCATCATCTGTAATAATTTATAGCAGTCTTATAAGGAAGATGGTAGAATCCTTAAGTTATGGTTGGTTTGTATAAGAAGCCCCATACCCAGGGTCATAGGGCTCTGCAGCTAAGATTGGAAGCTGCCGTACTTCTGCCTACTCCAAAGTCTGTTTCATTCTCACATAGTCTTCCTTCTGAAAACAGAAATAGGAGACAGAAGAATTATGACAATACTGAAGTCTAGGGCCATTTGATACATGGGCAAAATATCTTCTAGTACACCTTCTTTCGCAGTATTTTTTAATCAAATCTAATATGTCAGTGATTGTAAGACACCATCATTTTATGTACCGTCAAGGAAAAAACTGTTAAGTATTCATATAAGATGCCATCAATCGAAGATACAGACCTTAAGATCAGCACAGAGCCATAGTCACTTGTGTTCAGAAACACTGACCTTATTTGATACACGTAAGGCTGAGTTTTATTTAACAGATCTTTTAAGAAAACGTTATGATTCTTTGGTCCACCCCAAAAAGGTAGAAACAAATAATGGATCTTTAAAAGGGGCAAGCTTCAGATTGTTTAGATTTTGTTTGTGAAATACTTCTCATTCCTCATTATTAAAATATAAAATGAGTTTCTATTAATTTTTCTTAGTTTCTTTATAGATACTGATATAATTCATAATAATACCATTCTTATCTTAAAACCTTGTCACACACAATGAAACTTTGCTGTTCACTGTCAGTTATAACTTACATGAGGTGACCCATTTCCATTCAAGGGTTTTAGAAGCACATCAAGGACATTCTAAGGATGATTGACTTACACAATGATCTCTGAACATGCCTCCTGCCTTCTCCTCACTCTTGAGTATTTGCTTAGGGGAGCAGAAAAAATACTGGTAGCATTACTGTAACATTTTAATTCTGCTTTATTTAAAAAAGACATAGCTGGCATATAGTTAAGTACTGAAAAATGTTAGCTACTCAGTTATGTATAATGCTAGTATTTTGTTTTGAATAAAGTTGACATTAATGATCATATTATTAATTGTATTAGTTATTACAGATACTCTTTGGATGAGTTTTTAAATTCTTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGTAGCCAAATTTCTTATCTGGATTATTTGGTACCTGCCATGGTCTAGTTAAAAGAAAATTTAGTTGAAGTCTTCAACAAAGTCTTGCCANNNN
|
pathogenic
| 318,912 |
Does the variant impacting DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A) on chromosome 21, position 37486616, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
benign
|
ATCCGCCTGCCTTGGCCTCCCAAATCATGCTGGGATTACAGGCATGAGCTGCTGTACAGGGCCTAATAGCTTACTTTCTAACTTTCCTGACATCTACCATGCAAATTGTAGCCATACAGGCTGCTCTGTAAGCTGATTGGCCCCTGATGACTCAGTCTTTGTGCTCATAGTTAGGTTTTTCTTCTCCCCTTCACCTTAGTTTTCTCATACTCAGATTCCACAGAACAAGTGAGCACAGGAACCCTGTGACGATAGAGTCCTGCTTGACGTTGAACTCCTTTTTCCCAGGGCAGACTGATACTTCCCCTCTTGGGCTGAGGTGTTGTGCAGTGTCCACGTTGAGGTTCAGGTCCTGTCCCTCACCAGAATAGTATCTTCTGTATAGACTTGGTCAGACTTTCTCCACATTCTGTGTCAGGTTATTGTCAAATAAGGGATTTCTCCATTTCCGTAGCCAATACTTACCAATCCTGATTGCGTATTGAAATTTCTTGGGGAGCTTACCCAAAAAATTACTGATGTCTGGGCTCCAGGCCAGTTAAATTCTCTAGGCATTGATGTAAAAGAAAAAAAAAACCTTATTAAATTTGTAATTCATGGTCAAAAACTGGCAGTTAGCCTGTTAACTGTTTGGCAAGTCAGTAGATACTTGGGCCCACATGAGTGTCCTTTATCCTGCAGCCCATCAGGATCTGGGCACTGAACTGCAACTCTTAGTGCAGTCAGTACATCCAGTGAAGCAGAAGCATATCAGAACCCCTTGGCCACATGTTTACAAGGGTAGCCTCTGTTATAAAAGACCACAGAGAGTGTCTTTTAGAATTGAGTGAAACCAGAGATTAGTGCATTTTTTATTCCAAGTTTGATTTCAGTTGAGCCATTCAGAATCTGTCACAGTAGATTTAGCCTTGACTGATGAAGATCTGAGAACATACGTTTCATCCTCTTCCTGACCTTATGGTTTCATCCTGCACCTTGGAATCATTTGGAGTTCCTTCCCCATCCCCAGGCTTTTTGAATGTGCTAGAAAATGTATCTAAAAGAATTACTTATTCAGACAATGTATAATATTATAAATGTAACTTCTATTTTATTAGTTGTAATGGTTGTCACTGGTTAATAAGAGATAACATTTTCTTTTACTTATATATTGATTTTGTAATGTTTATGTAAATCTTTTATAGTAGTATGAACCTCGTTTTAAATGAGTCAGATTTCAAGTGAGAGGTGTTGCATGGTGATGTGTGCTCATGAACGCTGTGCTTTCCTTAGCAGTAATTCTCATTTTAAAACTATCATAATCCCCCAATTATGGCGTTTGTGGCATTGTGGAACTTTACTGGTAATTTGTGTTTGATTTTTTTTTAGTCTAAACCAATTTTTCTTTTATATACTTAGGTTTTTATGTATGAAAATCTAATTGAAAGTTAGAAAGTTATCTGAAGCCTTCTGCTGATAAACTTTTAAATATTTCATACATATTCTTAGGGTTCAGGTATCTCTCATTAAAAGAATAGTTCGATGAGTTGTTTTATAGTGTTATTTAGTAAGAAAGATAAAAAAACCTAAGCATTTGTCAAGAGTCATAATTTATTTCTGAAGGAGGAAAATAGTTAATTTAATTTTATTAAGAAAATTATCTATTTTGTGGATATTTAGAAATATTGTACAAATGCAAAAAGAAATTCAATTTAAAAGATTGATTTAAAGTTACTGTGTAATAAGTGGATATATATTGAATAGAAATAGATGGCATCTCTTCTACTTAGGAAGGTCAGAAAAATAATTATAAAAACATATAATTGAGAATTAGGTAAATGTTATAATTAAGGTGAATTATAAATTATTGTGAAATTTTTGCAATTAATGAAATAGAGAATTATTCATCTTCTCTTTTAGGTTGTAAAGGCATATGATCGTGTGGAGCAAGAATGGGTTGCCATTAAAATAATAAAGAACAAGAAGGCTTTTCTGAATCAAGCACAGATAGAAGTGCGACTTCTTGAGCTCATGAACAAACATGACACTGAAATGAAATACTACATAGGTAAACAAACAGGCAAACAGCGCAGTGTGCCCCAACCCACACCAAAACTTTGAGTTAATGGTTCTTTTCTATCAAAATATTTTGATTTTATTTTAAAGTGGCTGATTAAAAATTTGTTTATTTCTGTTGGACAGCAAGATTTATATAAGTGACTTGATCTGGTAGTAATAGTCTAAATCTTGGGGAATGTGCCTTCCATGTAGCATACCATGTAGAAACAAATGAGAATAGTGTGTGTGTGTTTTTTATTTGCAACTTACTGGTACCATTTGTTTGCTAATAATGATGCATGTTTATCCATAGGGTCATCTTTCCAGTAACTTTAACCATTTCTAATCTAGCTCAGAAACTAGTTGTGAGCTAGTATGTTCTTAGTGGTTGTGGAACCATTTTTGGGGCATCTGCAACAAGATCTCAGGCTCCTCCCCAGTCTCTTCATCAGCTTGGCAGCATTAGAAGCTATTAGATTTACAACTACAGAAAAGAGATAATAGCCACTGCTTATTGAATTTCTACCACATTCCTTATGCTTTTCTTCCATCATCTGTAATAATTTATAGCAGTCTTATAAGGAAGATGGTAGAATCCTTAAGTTATGGTTGGTTTGTATAAGAAGCCCCATACCCAGGGTCATAGGGCTCTGCAGCTAAGATTGGAAGCTGCCGTACTTCTGCCTACTCCAAAGTCTGTTTCATTCTCACATAGTCTTCCTTCTGAAAACAGAAATAGGAGACAGAAGAATTATGACAATACTGAAGTCTAGGGCCATTTGATACATGGGCAAAATATCTTCTAGTACACCTTCTTTCGCAGTATTTTTTAATCAAATCTAATATGTCAGTGATTGTAAGACACCATCATTTTATGTACCGTCAAGGAAAAAACTGTTAAGTATTCATATAAGATGCCATCAATCGAAGATACAGACCTTAAGATCAGCACAGAGCCATAGTCACTTGTGTTCAGAAACACTGACCTTATTTGATACACGTAAGGCTGAGTTTTATTTAACAGATCTTTTAAGAAAACGTTATGATTCTTTGGTCCACCCCAAAAAGGTAGAAACAAATAATGGATCTTTAAAAGGGGCAAGCTTCAGATTGTTTAGATTTTGTTTGTGAAATACTTCTCATTCCTCATTATTAAAATATAAAATGAGTTTCTATTAATTTTTCTTAGTTTCTTTATAGATACTGATATAATTCATAATAATACCATTCTTATCTTAAAACCTTGTCACACACAATGAAACTTTGCTGTTCACTGTCAGTTATAACTTACATGAGGTGACCCATTTCCATTCAAGGGTTTTAGAAGCACATCAAGGACATTCTAAGGATGATTGACTTACACAATGATCTCTGAACATGCCTCCTGCCTTCTCCTCACTCTTGAGTATTTGCTTAGGGGAGCAGAAAAAATACTGGTAGCATTACTGTAACATTTTAATTCTGCTTTATTTAAAAAAGACATAGCTGGCATATAGTTAAGTACTGAAAAATGTTAGCTACTCAGTTATGTATAATGCTAGTATTTTGTTTTGAATAAAGTTGACATTAATGATCATATTATTAATTGTATTAGTTATTACAGATACTCTTTGGATGAGTTTTTAAATTCTTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGTAGCCAAATTTCTTATCTGGATTATTTGGTACCTGCCATGGTCTAGTTAAAAGAAAATTTAGTTGAAGTCTTCAACAAAGTCTTGCCAGCCCTCCATTCTCCCCAAAATTTGGTTAAAAAGACTGAACAAATATGCTTGTTTGAGCTTTCTTTGACAATGTCTTTAGTGCTCAGCACACTGTAGA
|
ATCCGCCTGCCTTGGCCTCCCAAATCATGCTGGGATTACAGGCATGAGCTGCTGTACAGGGCCTAATAGCTTACTTTCTAACTTTCCTGACATCTACCATGCAAATTGTAGCCATACAGGCTGCTCTGTAAGCTGATTGGCCCCTGATGACTCAGTCTTTGTGCTCATAGTTAGGTTTTTCTTCTCCCCTTCACCTTAGTTTTCTCATACTCAGATTCCACAGAACAAGTGAGCACAGGAACCCTGTGACGATAGAGTCCTGCTTGACGTTGAACTCCTTTTTCCCAGGGCAGACTGATACTTCCCCTCTTGGGCTGAGGTGTTGTGCAGTGTCCACGTTGAGGTTCAGGTCCTGTCCCTCACCAGAATAGTATCTTCTGTATAGACTTGGTCAGACTTTCTCCACATTCTGTGTCAGGTTATTGTCAAATAAGGGATTTCTCCATTTCCGTAGCCAATACTTACCAATCCTGATTGCGTATTGAAATTTCTTGGGGAGCTTACCCAAAAAATTACTGATGTCTGGGCTCCAGGCCAGTTAAATTCTCTAGGCATTGATGTAAAAGAAAAAAAAAACCTTATTAAATTTGTAATTCATGGTCAAAAACTGGCAGTTAGCCTGTTAACTGTTTGGCAAGTCAGTAGATACTTGGGCCCACATGAGTGTCCTTTATCCTGCAGCCCATCAGGATCTGGGCACTGAACTGCAACTCTTAGTGCAGTCAGTACATCCAGTGAAGCAGAAGCATATCAGAACCCCTTGGCCACATGTTTACAAGGGTAGCCTCTGTTATAAAAGACCACAGAGAGTGTCTTTTAGAATTGAGTGAAACCAGAGATTAGTGCATTTTTTATTCCAAGTTTGATTTCAGTTGAGCCATTCAGAATCTGTCACAGTAGATTTAGCCTTGACTGATGAAGATCTGAGAACATACGTTTCATCCTCTTCCTGACCTTATGGTTTCATCCTGCACCTTGGAATCATTTGGAGTTCCTTCCCCATCCCCAGGCTTTTTGAATGTGCTAGAAAATGTATCTAAAAGAATTACTTATTCAGACAATGTATAATATTATAAATGTAACTTCTATTTTATTAGTTGTAATGGTTGTCACTGGTTAATAAGAGATAACATTTTCTTTTACTTATATATTGATTTTGTAATGTTTATGTAAATCTTTTATAGTAGTATGAACCTCGTTTTAAATGAGTCAGATTTCAAGTGAGAGGTGTTGCATGGTGATGTGTGCTCATGAACGCTGTGCTTTCCTTAGCAGTAATTCTCATTTTAAAACTATCATAATCCCCCAATTATGGCGTTTGTGGCATTGTGGAACTTTACTGGTAATTTGTGTTTGATTTTTTTTTAGTCTAAACCAATTTTTCTTTTATATACTTAGGTTTTTATGTATGAAAATCTAATTGAAAGTTAGAAAGTTATCTGAAGCCTTCTGCTGATAAACTTTTAAATATTTCATACATATTCTTAGGGTTCAGGTATCTCTCATTAAAAGAATAGTTCGATGAGTTGTTTTATAGTGTTATTTAGTAAGAAAGATAAAAAAACCTAAGCATTTGTCAAGAGTCATAATTTATTTCTGAAGGAGGAAAATAGTTAATTTAATTTTATTAAGAAAATTATCTATTTTGTGGATATTTAGAAATATTGTACAAATGCAAAAAGAAATTCAATTTAAAAGATTGATTTAAAGTTACTGTGTAATAAGTGGATATATATTGAATAGAAATAGATGGCATCTCTTCTACTTAGGAAGGTCAGAAAAATAATTATAAAAACATATAATTGAGAATTAGGTAAATGTTATAATTAAGGTGAATTATAAATTATTGTGAAATTTTTGCAATTAATGAAATAGAGAATTATTCATCTTCTCTTTTAGGTTGTAAAGGCATATGATCGTGTGGAGCAAGAATGGGTTGCCATTAAAATAATAAAGAACAAGAAGGCTTTTCTGAATCAAGCACAGATAGAAGTGCGACTTCTTGAGCTCATGAACAAACATGACACTGAAATGAAATACTACATAGGTAAACAGGCAAACAGCGCAGTGTGCCCCAACCCACACCAAAACTTTGAGTTAATGGTTCTTTTCTATCAAAATATTTTGATTTTATTTTAAAGTGGCTGATTAAAAATTTGTTTATTTCTGTTGGACAGCAAGATTTATATAAGTGACTTGATCTGGTAGTAATAGTCTAAATCTTGGGGAATGTGCCTTCCATGTAGCATACCATGTAGAAACAAATGAGAATAGTGTGTGTGTGTTTTTTATTTGCAACTTACTGGTACCATTTGTTTGCTAATAATGATGCATGTTTATCCATAGGGTCATCTTTCCAGTAACTTTAACCATTTCTAATCTAGCTCAGAAACTAGTTGTGAGCTAGTATGTTCTTAGTGGTTGTGGAACCATTTTTGGGGCATCTGCAACAAGATCTCAGGCTCCTCCCCAGTCTCTTCATCAGCTTGGCAGCATTAGAAGCTATTAGATTTACAACTACAGAAAAGAGATAATAGCCACTGCTTATTGAATTTCTACCACATTCCTTATGCTTTTCTTCCATCATCTGTAATAATTTATAGCAGTCTTATAAGGAAGATGGTAGAATCCTTAAGTTATGGTTGGTTTGTATAAGAAGCCCCATACCCAGGGTCATAGGGCTCTGCAGCTAAGATTGGAAGCTGCCGTACTTCTGCCTACTCCAAAGTCTGTTTCATTCTCACATAGTCTTCCTTCTGAAAACAGAAATAGGAGACAGAAGAATTATGACAATACTGAAGTCTAGGGCCATTTGATACATGGGCAAAATATCTTCTAGTACACCTTCTTTCGCAGTATTTTTTAATCAAATCTAATATGTCAGTGATTGTAAGACACCATCATTTTATGTACCGTCAAGGAAAAAACTGTTAAGTATTCATATAAGATGCCATCAATCGAAGATACAGACCTTAAGATCAGCACAGAGCCATAGTCACTTGTGTTCAGAAACACTGACCTTATTTGATACACGTAAGGCTGAGTTTTATTTAACAGATCTTTTAAGAAAACGTTATGATTCTTTGGTCCACCCCAAAAAGGTAGAAACAAATAATGGATCTTTAAAAGGGGCAAGCTTCAGATTGTTTAGATTTTGTTTGTGAAATACTTCTCATTCCTCATTATTAAAATATAAAATGAGTTTCTATTAATTTTTCTTAGTTTCTTTATAGATACTGATATAATTCATAATAATACCATTCTTATCTTAAAACCTTGTCACACACAATGAAACTTTGCTGTTCACTGTCAGTTATAACTTACATGAGGTGACCCATTTCCATTCAAGGGTTTTAGAAGCACATCAAGGACATTCTAAGGATGATTGACTTACACAATGATCTCTGAACATGCCTCCTGCCTTCTCCTCACTCTTGAGTATTTGCTTAGGGGAGCAGAAAAAATACTGGTAGCATTACTGTAACATTTTAATTCTGCTTTATTTAAAAAAGACATAGCTGGCATATAGTTAAGTACTGAAAAATGTTAGCTACTCAGTTATGTATAATGCTAGTATTTTGTTTTGAATAAAGTTGACATTAATGATCATATTATTAATTGTATTAGTTATTACAGATACTCTTTGGATGAGTTTTTAAATTCTTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGTAGCCAAATTTCTTATCTGGATTATTTGGTACCTGCCATGGTCTAGTTAAAAGAAAATTTAGTTGAAGTCTTCAACAAAGTCTTGCCAGCCCTCCATTCTCCCCAAAATTTGGTTAAAAAGACTGAACAAATATGCTTGTTTGAGCTTTCTTTGACAATGTCTTTAGTGCTCAGCACACTGTAGANNNN
|
benign
| 318,916 |
A mutation at chromosome position 37490163 on chromosome 21 in gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['DYRK1A-related_intellectual_disability_syndrome', 'Intellectual_disability']
|
ATGTTAGCTACTCAGTTATGTATAATGCTAGTATTTTGTTTTGAATAAAGTTGACATTAATGATCATATTATTAATTGTATTAGTTATTACAGATACTCTTTGGATGAGTTTTTAAATTCTTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGTAGCCAAATTTCTTATCTGGATTATTTGGTACCTGCCATGGTCTAGTTAAAAGAAAATTTAGTTGAAGTCTTCAACAAAGTCTTGCCAGCCCTCCATTCTCCCCAAAATTTGGTTAAAAAGACTGAACAAATATGCTTGTTTGAGCTTTCTTTGACAATGTCTTTAGTGCTCAGCACACTGTAGATACTAAGTAAATGAATAAAGAATTGTGAGGTCAAGTGAAACTAAGTAGATCTTTCATTGGACGAACATTGTGATCACAGAGCTTCTTAAAGGAATTTTTATAATCACATTAGAATTCTGACAGCAGTTACTTTTTGCATTCATTTAGTGGCACCTGCTTAACCAGGAGATTAAAAGCCATCCACAGACCATGATTGTGAGGTATCATGGAACTATGTTTTTAGTTTTAAACCTATAAACTGAAGTGACTAAGAGCAGATATTTTACATTCTTAGGTAACATTTAAGGATTCCTTTTGTTATTTTTAGTATCGAGTTGTGCTGTAGACTCCTATATAGCCATGTAGTTATTTTTATTGTGTTACTTATTCTAACTTTAGATCACCTATACCATGAAAGATCTAAAAGCAATATTGATGTTCACTGCTTTGAGGCAGGCAGCCCAGGACTATTCCCAGGAAAACACAATGTATCCACAGTTCTTAGTGATCAGACATTGATTACTATCAGTTTATTCCAGATAGATCTGTAGAGAAACCTCTCATTTTGTAATACTATAAGATAAAATGAAAATCACCTTGACAGATGGGTGTTTTATGTCATTGCAGTTGTGTTACAGGTGCTCAGTTTGGTATATATAAGACTTAACAGGGAGGGACAGCACTTTATCGAATAACCTCATCTGATGTGACGTCAGTGTTAATAGTTAAAGCACAATCTTTGAGGCAATTTAGTGAGTATTCAGCCTTTTTAGAGGGTCAACAGTGATAGCGACCTATGTATTCTATGCTGTTTCCCCACTCACAAGCCTCCTTATCATCTCTTCTTGTAGCTGAGCTTTATTTTGAAGTTTTCCAAACCTTCAGTCTCACACAAGAGTTGTCACTTACCAATTTGATAAACACAGTTAAGTCCTCCAATACTTTTACCAAAGCATGATTTTCAGACATTTGTTGTATTTGCCTAAAGGGTAAAAAAAAAAAAGGCTATCAATGAAAATTGTGACAGAAAATTACCAGTGAAATCTAAAGTTCAGCAGTGCAGATACATTTCAAAGCCTACACAGAGGGCTGCCAACTACAGCATTGTCACAAACCAGAGATCCCAGTAGGTGGAGCTTAGACATAGGAAGTTGTGAGGTAGGGCTCTCGGGAAGTAAAAAGTGCTTTCTTTTATAAATGAAGATAAAATTGCTGAAATATTCTCACTGCTGTTTGTCCATTTGGTCCTTATGTTTTCAGATCTGACTTTTAGAGAAACAAGGCATTTTGGTAGCACTGCTTACCTTATATCACTTACCGACATATGCTGTACCTGTTTAATTCAGCAGAAGAGCAACTTAGATATTCTTAACTGATTGAAAACTGCTGTTATTACAAAATGCTGATCTCCAAACTTTAACTGAACTCTGCATTTGATGTAATAATGTTATAGAACATTTGAGAGTGCATGTGTTTGTTACTCTCAGTTTATTGGTATATATAATTTAAAATGAAACTGTTTTCTCTTTCAGTGCATTTGAAACGCCACTTTATGTTTCGAAACCATCTCTGTTTAGTTTTTGAAATGCTGTCCTACAACCTCTATGACTTGCTGAGAAACACCAATTTCCGAGGGGTCTCTTTGAACCTAACACGAAAGTTTGCGCAACAGATGTGCACTGCACTGCTTTTCCTTGCGACTCCAGAACTTAGTATCATTCACTGTGATCTAAAACCTGAAAATATCCTTCTTTGTAACCCCAAACGCAGTGCAATCAAGATAGTTGACTTTGGCAGTTCTTGTCAGTTGGGGCAGAGGGTAAGTATTATTTCAGAACTTGTGAATTAAATAGAAATTAAATAGAAGTAGGTAGGACAGTGTAGGTATTAGGTTGGCGCAAAAGTAATTGCGGTTTTCGCCATTGCAGTTGCTGTTTTTGCAGTGGCAAAAACCGCAATTACTTTTGCGCCAACCTAATAGATATTTGAAATGTTAATAAGGTGTATACCATTTAGAGGCAATTACAGGATGCTTATTTATCTTTAAAATGTAGCACTTAATTACCTTGTGTTGATATCTATTTTGGGGAAATACCTTTTAAAATGCAAATAGCAATACTTTGAGTCAAAAGACATTGATTTTTTTGAAATGGGTATATTTAAAATTGTATGTATGCTAAAAGATTAAGGGAGAGAATAGGAGATGGAATGATTAAATATTAGGGGATTTGTAACTATATTTCCCAAGTAAAGGTTTTAGTATAAATTTTGGGACTTTCCAGTACTAGAACATTGAATCTTTGCTGTAAAATACTTCTCTGAAGATGGATCAAGATAAATCTTTTTTCTCAAAAACTGATGGTTCAAAAAAATGCAGGTAATTTTGCATTAGTCATGGTATAAGTATAGAAAATTCAGTTGATAGACTTACTTGTTTTGATAAATAAGTTTGTCTTATTTTCCCCACTCTTATTTAAAATTTACATAAATTCTGACACATATCCAAGCTGGTTTTTTTCAGACTGCTAAAAACAGATGTGTTCGTAGTGCTGATAAGTTTAGCTGATTTAGGAAAGCAGTTTTTTCCTGTCATTCTTCCAGCATTATGAAAACTACTCTAACAGCATTGTTTTATGTATAAAATAGAAGTGATAGGGGTCTCCTCTTGAAAGGAATTAGTGTCACCATTTGATAATATTTTACTCATTTTAAGCACTATTCTTTTTGCTTTAAGTATTGAAACTATATTTCTTCTGTTTTAAAGAAACCCGGCTAACATACAGATGTTAATTTTTCTTACTGACTTTTCTGTTTCTTATTTTTCCAAATTAGTGAAATTTTCTGTCCCGTCCTACTTTTGTCCAGGTTTTAACTATAACAGATTAATTTAATCATAAGGATTTATAGCCAATTAATAGGACTGTCTTTTTGTTATTTTCTGCAACTTCTCATGGTAGTGAGGCTATCAAATGTTAAAGTAATTTTTAAAAATTGGAGTAGGGAGCAAAGTTTGCAGTTTTAGATGCCTTCAAAAAATCAAGAGATGCTCGTAGTTAATATGTGGTAGAGTATATTGTGAATGAAAAATACATGCCCATCTTGACAGTAATTTGAATAGATTATAGAGTTGGGAAAATTTCCCCCTATTTAAGCCAAATTATGTATTTTGTCCTAATATTAAACATTATTATTTCTGTCTAGCCAAAATGAGCCAGTTATCCCTACAATAAGTTTTTAACTATTCAAGTTCATTGGCATCACATGGGAAGTTATTTCTAAAATAGACCTGCAGTGGTCCTGCCCCTAGATCTGTTGGATTAGAATCAGAAGGTGGTAGGGCAAGTGTGTTTTGGGGAAAGCAACTGCTTTAAACAAATTAGATAGGGAGGTGACAAAGTTCTTGGCATAAGCTGTGAAATAAAAGTCTCAGGAGTGGTGAGTGTTTGGGCCTAGGGAGTTAACAATGGTATTGGCTTATAAAAACCATGGAAATGTAATACTTCTTCCCAGTTCTTTTAAATTAGACTTTCTTCTCATAGTTCCTTAAGGTTGGTTGACCTACCTGTGG
|
ATGTTAGCTACTCAGTTATGTATAATGCTAGTATTTTGTTTTGAATAAAGTTGACATTAATGATCATATTATTAATTGTATTAGTTATTACAGATACTCTTTGGATGAGTTTTTAAATTCTTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGTAGCCAAATTTCTTATCTGGATTATTTGGTACCTGCCATGGTCTAGTTAAAAGAAAATTTAGTTGAAGTCTTCAACAAAGTCTTGCCAGCCCTCCATTCTCCCCAAAATTTGGTTAAAAAGACTGAACAAATATGCTTGTTTGAGCTTTCTTTGACAATGTCTTTAGTGCTCAGCACACTGTAGATACTAAGTAAATGAATAAAGAATTGTGAGGTCAAGTGAAACTAAGTAGATCTTTCATTGGACGAACATTGTGATCACAGAGCTTCTTAAAGGAATTTTTATAATCACATTAGAATTCTGACAGCAGTTACTTTTTGCATTCATTTAGTGGCACCTGCTTAACCAGGAGATTAAAAGCCATCCACAGACCATGATTGTGAGGTATCATGGAACTATGTTTTTAGTTTTAAACCTATAAACTGAAGTGACTAAGAGCAGATATTTTACATTCTTAGGTAACATTTAAGGATTCCTTTTGTTATTTTTAGTATCGAGTTGTGCTGTAGACTCCTATATAGCCATGTAGTTATTTTTATTGTGTTACTTATTCTAACTTTAGATCACCTATACCATGAAAGATCTAAAAGCAATATTGATGTTCACTGCTTTGAGGCAGGCAGCCCAGGACTATTCCCAGGAAAACACAATGTATCCACAGTTCTTAGTGATCAGACATTGATTACTATCAGTTTATTCCAGATAGATCTGTAGAGAAACCTCTCATTTTGTAATACTATAAGATAAAATGAAAATCACCTTGACAGATGGGTGTTTTATGTCATTGCAGTTGTGTTACAGGTGCTCAGTTTGGTATATATAAGACTTAACAGGGAGGGACAGCACTTTATCGAATAACCTCATCTGATGTGACGTCAGTGTTAATAGTTAAAGCACAATCTTTGAGGCAATTTAGTGAGTATTCAGCCTTTTTAGAGGGTCAACAGTGATAGCGACCTATGTATTCTATGCTGTTTCCCCACTCACAAGCCTCCTTATCATCTCTTCTTGTAGCTGAGCTTTATTTTGAAGTTTTCCAAACCTTCAGTCTCACACAAGAGTTGTCACTTACCAATTTGATAAACACAGTTAAGTCCTCCAATACTTTTACCAAAGCATGATTTTCAGACATTTGTTGTATTTGCCTAAAGGGTAAAAAAAAAAAAGGCTATCAATGAAAATTGTGACAGAAAATTACCAGTGAAATCTAAAGTTCAGCAGTGCAGATACATTTCAAAGCCTACACAGAGGGCTGCCAACTACAGCATTGTCACAAACCAGAGATCCCAGTAGGTGGAGCTTAGACATAGGAAGTTGTGAGGTAGGGCTCTCGGGAAGTAAAAAGTGCTTTCTTTTATAAATGAAGATAAAATTGCTGAAATATTCTCACTGCTGTTTGTCCATTTGGTCCTTATGTTTTCAGATCTGACTTTTAGAGAAACAAGGCATTTTGGTAGCACTGCTTACCTTATATCACTTACCGACATATGCTGTACCTGTTTAATTCAGCAGAAGAGCAACTTAGATATTCTTAACTGATTGAAAACTGCTGTTATTACAAAATGCTGATCTCCAAACTTTAACTGAACTCTGCATTTGATGTAATAATGTTATAGAACATTTGAGAGTGCATGTGTTTGTTACTCTCAGTTTATTGGTATATATAATTTAAAATGAAACTGTTTTTCAGTGCATTTGAAACGCCACTTTATGTTTCGAAACCATCTCTGTTTAGTTTTTGAAATGCTGTCCTACAACCTCTATGACTTGCTGAGAAACACCAATTTCCGAGGGGTCTCTTTGAACCTAACACGAAAGTTTGCGCAACAGATGTGCACTGCACTGCTTTTCCTTGCGACTCCAGAACTTAGTATCATTCACTGTGATCTAAAACCTGAAAATATCCTTCTTTGTAACCCCAAACGCAGTGCAATCAAGATAGTTGACTTTGGCAGTTCTTGTCAGTTGGGGCAGAGGGTAAGTATTATTTCAGAACTTGTGAATTAAATAGAAATTAAATAGAAGTAGGTAGGACAGTGTAGGTATTAGGTTGGCGCAAAAGTAATTGCGGTTTTCGCCATTGCAGTTGCTGTTTTTGCAGTGGCAAAAACCGCAATTACTTTTGCGCCAACCTAATAGATATTTGAAATGTTAATAAGGTGTATACCATTTAGAGGCAATTACAGGATGCTTATTTATCTTTAAAATGTAGCACTTAATTACCTTGTGTTGATATCTATTTTGGGGAAATACCTTTTAAAATGCAAATAGCAATACTTTGAGTCAAAAGACATTGATTTTTTTGAAATGGGTATATTTAAAATTGTATGTATGCTAAAAGATTAAGGGAGAGAATAGGAGATGGAATGATTAAATATTAGGGGATTTGTAACTATATTTCCCAAGTAAAGGTTTTAGTATAAATTTTGGGACTTTCCAGTACTAGAACATTGAATCTTTGCTGTAAAATACTTCTCTGAAGATGGATCAAGATAAATCTTTTTTCTCAAAAACTGATGGTTCAAAAAAATGCAGGTAATTTTGCATTAGTCATGGTATAAGTATAGAAAATTCAGTTGATAGACTTACTTGTTTTGATAAATAAGTTTGTCTTATTTTCCCCACTCTTATTTAAAATTTACATAAATTCTGACACATATCCAAGCTGGTTTTTTTCAGACTGCTAAAAACAGATGTGTTCGTAGTGCTGATAAGTTTAGCTGATTTAGGAAAGCAGTTTTTTCCTGTCATTCTTCCAGCATTATGAAAACTACTCTAACAGCATTGTTTTATGTATAAAATAGAAGTGATAGGGGTCTCCTCTTGAAAGGAATTAGTGTCACCATTTGATAATATTTTACTCATTTTAAGCACTATTCTTTTTGCTTTAAGTATTGAAACTATATTTCTTCTGTTTTAAAGAAACCCGGCTAACATACAGATGTTAATTTTTCTTACTGACTTTTCTGTTTCTTATTTTTCCAAATTAGTGAAATTTTCTGTCCCGTCCTACTTTTGTCCAGGTTTTAACTATAACAGATTAATTTAATCATAAGGATTTATAGCCAATTAATAGGACTGTCTTTTTGTTATTTTCTGCAACTTCTCATGGTAGTGAGGCTATCAAATGTTAAAGTAATTTTTAAAAATTGGAGTAGGGAGCAAAGTTTGCAGTTTTAGATGCCTTCAAAAAATCAAGAGATGCTCGTAGTTAATATGTGGTAGAGTATATTGTGAATGAAAAATACATGCCCATCTTGACAGTAATTTGAATAGATTATAGAGTTGGGAAAATTTCCCCCTATTTAAGCCAAATTATGTATTTTGTCCTAATATTAAACATTATTATTTCTGTCTAGCCAAAATGAGCCAGTTATCCCTACAATAAGTTTTTAACTATTCAAGTTCATTGGCATCACATGGGAAGTTATTTCTAAAATAGACCTGCAGTGGTCCTGCCCCTAGATCTGTTGGATTAGAATCAGAAGGTGGTAGGGCAAGTGTGTTTTGGGGAAAGCAACTGCTTTAAACAAATTAGATAGGGAGGTGACAAAGTTCTTGGCATAAGCTGTGAAATAAAAGTCTCAGGAGTGGTGAGTGTTTGGGCCTAGGGAGTTAACAATGGTATTGGCTTATAAAAACCATGGAAATGTAATACTTCTTCCCAGTTCTTTTAAATTAGACTTTCTTCTCATAGTTCCTTAAGGTTGGTTGACCTACCTGTGGNNNNN
|
pathogenic
| 318,919 |
Evaluate this variant at chromosome 21, position 37490193, gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Complex_neurodevelopmental_disorder', 'DYRK1A-related_intellectual_disability_syndrome', 'Inborn_genetic_diseases']
|
GTATTTTGTTTTGAATAAAGTTGACATTAATGATCATATTATTAATTGTATTAGTTATTACAGATACTCTTTGGATGAGTTTTTAAATTCTTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGTAGCCAAATTTCTTATCTGGATTATTTGGTACCTGCCATGGTCTAGTTAAAAGAAAATTTAGTTGAAGTCTTCAACAAAGTCTTGCCAGCCCTCCATTCTCCCCAAAATTTGGTTAAAAAGACTGAACAAATATGCTTGTTTGAGCTTTCTTTGACAATGTCTTTAGTGCTCAGCACACTGTAGATACTAAGTAAATGAATAAAGAATTGTGAGGTCAAGTGAAACTAAGTAGATCTTTCATTGGACGAACATTGTGATCACAGAGCTTCTTAAAGGAATTTTTATAATCACATTAGAATTCTGACAGCAGTTACTTTTTGCATTCATTTAGTGGCACCTGCTTAACCAGGAGATTAAAAGCCATCCACAGACCATGATTGTGAGGTATCATGGAACTATGTTTTTAGTTTTAAACCTATAAACTGAAGTGACTAAGAGCAGATATTTTACATTCTTAGGTAACATTTAAGGATTCCTTTTGTTATTTTTAGTATCGAGTTGTGCTGTAGACTCCTATATAGCCATGTAGTTATTTTTATTGTGTTACTTATTCTAACTTTAGATCACCTATACCATGAAAGATCTAAAAGCAATATTGATGTTCACTGCTTTGAGGCAGGCAGCCCAGGACTATTCCCAGGAAAACACAATGTATCCACAGTTCTTAGTGATCAGACATTGATTACTATCAGTTTATTCCAGATAGATCTGTAGAGAAACCTCTCATTTTGTAATACTATAAGATAAAATGAAAATCACCTTGACAGATGGGTGTTTTATGTCATTGCAGTTGTGTTACAGGTGCTCAGTTTGGTATATATAAGACTTAACAGGGAGGGACAGCACTTTATCGAATAACCTCATCTGATGTGACGTCAGTGTTAATAGTTAAAGCACAATCTTTGAGGCAATTTAGTGAGTATTCAGCCTTTTTAGAGGGTCAACAGTGATAGCGACCTATGTATTCTATGCTGTTTCCCCACTCACAAGCCTCCTTATCATCTCTTCTTGTAGCTGAGCTTTATTTTGAAGTTTTCCAAACCTTCAGTCTCACACAAGAGTTGTCACTTACCAATTTGATAAACACAGTTAAGTCCTCCAATACTTTTACCAAAGCATGATTTTCAGACATTTGTTGTATTTGCCTAAAGGGTAAAAAAAAAAAAGGCTATCAATGAAAATTGTGACAGAAAATTACCAGTGAAATCTAAAGTTCAGCAGTGCAGATACATTTCAAAGCCTACACAGAGGGCTGCCAACTACAGCATTGTCACAAACCAGAGATCCCAGTAGGTGGAGCTTAGACATAGGAAGTTGTGAGGTAGGGCTCTCGGGAAGTAAAAAGTGCTTTCTTTTATAAATGAAGATAAAATTGCTGAAATATTCTCACTGCTGTTTGTCCATTTGGTCCTTATGTTTTCAGATCTGACTTTTAGAGAAACAAGGCATTTTGGTAGCACTGCTTACCTTATATCACTTACCGACATATGCTGTACCTGTTTAATTCAGCAGAAGAGCAACTTAGATATTCTTAACTGATTGAAAACTGCTGTTATTACAAAATGCTGATCTCCAAACTTTAACTGAACTCTGCATTTGATGTAATAATGTTATAGAACATTTGAGAGTGCATGTGTTTGTTACTCTCAGTTTATTGGTATATATAATTTAAAATGAAACTGTTTTCTCTTTCAGTGCATTTGAAACGCCACTTTATGTTTCGAAACCATCTCTGTTTAGTTTTTGAAATGCTGTCCTACAACCTCTATGACTTGCTGAGAAACACCAATTTCCGAGGGGTCTCTTTGAACCTAACACGAAAGTTTGCGCAACAGATGTGCACTGCACTGCTTTTCCTTGCGACTCCAGAACTTAGTATCATTCACTGTGATCTAAAACCTGAAAATATCCTTCTTTGTAACCCCAAACGCAGTGCAATCAAGATAGTTGACTTTGGCAGTTCTTGTCAGTTGGGGCAGAGGGTAAGTATTATTTCAGAACTTGTGAATTAAATAGAAATTAAATAGAAGTAGGTAGGACAGTGTAGGTATTAGGTTGGCGCAAAAGTAATTGCGGTTTTCGCCATTGCAGTTGCTGTTTTTGCAGTGGCAAAAACCGCAATTACTTTTGCGCCAACCTAATAGATATTTGAAATGTTAATAAGGTGTATACCATTTAGAGGCAATTACAGGATGCTTATTTATCTTTAAAATGTAGCACTTAATTACCTTGTGTTGATATCTATTTTGGGGAAATACCTTTTAAAATGCAAATAGCAATACTTTGAGTCAAAAGACATTGATTTTTTTGAAATGGGTATATTTAAAATTGTATGTATGCTAAAAGATTAAGGGAGAGAATAGGAGATGGAATGATTAAATATTAGGGGATTTGTAACTATATTTCCCAAGTAAAGGTTTTAGTATAAATTTTGGGACTTTCCAGTACTAGAACATTGAATCTTTGCTGTAAAATACTTCTCTGAAGATGGATCAAGATAAATCTTTTTTCTCAAAAACTGATGGTTCAAAAAAATGCAGGTAATTTTGCATTAGTCATGGTATAAGTATAGAAAATTCAGTTGATAGACTTACTTGTTTTGATAAATAAGTTTGTCTTATTTTCCCCACTCTTATTTAAAATTTACATAAATTCTGACACATATCCAAGCTGGTTTTTTTCAGACTGCTAAAAACAGATGTGTTCGTAGTGCTGATAAGTTTAGCTGATTTAGGAAAGCAGTTTTTTCCTGTCATTCTTCCAGCATTATGAAAACTACTCTAACAGCATTGTTTTATGTATAAAATAGAAGTGATAGGGGTCTCCTCTTGAAAGGAATTAGTGTCACCATTTGATAATATTTTACTCATTTTAAGCACTATTCTTTTTGCTTTAAGTATTGAAACTATATTTCTTCTGTTTTAAAGAAACCCGGCTAACATACAGATGTTAATTTTTCTTACTGACTTTTCTGTTTCTTATTTTTCCAAATTAGTGAAATTTTCTGTCCCGTCCTACTTTTGTCCAGGTTTTAACTATAACAGATTAATTTAATCATAAGGATTTATAGCCAATTAATAGGACTGTCTTTTTGTTATTTTCTGCAACTTCTCATGGTAGTGAGGCTATCAAATGTTAAAGTAATTTTTAAAAATTGGAGTAGGGAGCAAAGTTTGCAGTTTTAGATGCCTTCAAAAAATCAAGAGATGCTCGTAGTTAATATGTGGTAGAGTATATTGTGAATGAAAAATACATGCCCATCTTGACAGTAATTTGAATAGATTATAGAGTTGGGAAAATTTCCCCCTATTTAAGCCAAATTATGTATTTTGTCCTAATATTAAACATTATTATTTCTGTCTAGCCAAAATGAGCCAGTTATCCCTACAATAAGTTTTTAACTATTCAAGTTCATTGGCATCACATGGGAAGTTATTTCTAAAATAGACCTGCAGTGGTCCTGCCCCTAGATCTGTTGGATTAGAATCAGAAGGTGGTAGGGCAAGTGTGTTTTGGGGAAAGCAACTGCTTTAAACAAATTAGATAGGGAGGTGACAAAGTTCTTGGCATAAGCTGTGAAATAAAAGTCTCAGGAGTGGTGAGTGTTTGGGCCTAGGGAGTTAACAATGGTATTGGCTTATAAAAACCATGGAAATGTAATACTTCTTCCCAGTTCTTTTAAATTAGACTTTCTTCTCATAGTTCCTTAAGGTTGGTTGACCTACCTGTGGAGGCCTGAGATTGTTCTCGAAGACTTGGCT
|
GTATTTTGTTTTGAATAAAGTTGACATTAATGATCATATTATTAATTGTATTAGTTATTACAGATACTCTTTGGATGAGTTTTTAAATTCTTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGTAGCCAAATTTCTTATCTGGATTATTTGGTACCTGCCATGGTCTAGTTAAAAGAAAATTTAGTTGAAGTCTTCAACAAAGTCTTGCCAGCCCTCCATTCTCCCCAAAATTTGGTTAAAAAGACTGAACAAATATGCTTGTTTGAGCTTTCTTTGACAATGTCTTTAGTGCTCAGCACACTGTAGATACTAAGTAAATGAATAAAGAATTGTGAGGTCAAGTGAAACTAAGTAGATCTTTCATTGGACGAACATTGTGATCACAGAGCTTCTTAAAGGAATTTTTATAATCACATTAGAATTCTGACAGCAGTTACTTTTTGCATTCATTTAGTGGCACCTGCTTAACCAGGAGATTAAAAGCCATCCACAGACCATGATTGTGAGGTATCATGGAACTATGTTTTTAGTTTTAAACCTATAAACTGAAGTGACTAAGAGCAGATATTTTACATTCTTAGGTAACATTTAAGGATTCCTTTTGTTATTTTTAGTATCGAGTTGTGCTGTAGACTCCTATATAGCCATGTAGTTATTTTTATTGTGTTACTTATTCTAACTTTAGATCACCTATACCATGAAAGATCTAAAAGCAATATTGATGTTCACTGCTTTGAGGCAGGCAGCCCAGGACTATTCCCAGGAAAACACAATGTATCCACAGTTCTTAGTGATCAGACATTGATTACTATCAGTTTATTCCAGATAGATCTGTAGAGAAACCTCTCATTTTGTAATACTATAAGATAAAATGAAAATCACCTTGACAGATGGGTGTTTTATGTCATTGCAGTTGTGTTACAGGTGCTCAGTTTGGTATATATAAGACTTAACAGGGAGGGACAGCACTTTATCGAATAACCTCATCTGATGTGACGTCAGTGTTAATAGTTAAAGCACAATCTTTGAGGCAATTTAGTGAGTATTCAGCCTTTTTAGAGGGTCAACAGTGATAGCGACCTATGTATTCTATGCTGTTTCCCCACTCACAAGCCTCCTTATCATCTCTTCTTGTAGCTGAGCTTTATTTTGAAGTTTTCCAAACCTTCAGTCTCACACAAGAGTTGTCACTTACCAATTTGATAAACACAGTTAAGTCCTCCAATACTTTTACCAAAGCATGATTTTCAGACATTTGTTGTATTTGCCTAAAGGGTAAAAAAAAAAAAGGCTATCAATGAAAATTGTGACAGAAAATTACCAGTGAAATCTAAAGTTCAGCAGTGCAGATACATTTCAAAGCCTACACAGAGGGCTGCCAACTACAGCATTGTCACAAACCAGAGATCCCAGTAGGTGGAGCTTAGACATAGGAAGTTGTGAGGTAGGGCTCTCGGGAAGTAAAAAGTGCTTTCTTTTATAAATGAAGATAAAATTGCTGAAATATTCTCACTGCTGTTTGTCCATTTGGTCCTTATGTTTTCAGATCTGACTTTTAGAGAAACAAGGCATTTTGGTAGCACTGCTTACCTTATATCACTTACCGACATATGCTGTACCTGTTTAATTCAGCAGAAGAGCAACTTAGATATTCTTAACTGATTGAAAACTGCTGTTATTACAAAATGCTGATCTCCAAACTTTAACTGAACTCTGCATTTGATGTAATAATGTTATAGAACATTTGAGAGTGCATGTGTTTGTTACTCTCAGTTTATTGGTATATATAATTTAAAATGAAACTGTTTTCTCTTTCAGTGCATTTGAAACGCCACTTTGTTTCGAAACCATCTCTGTTTAGTTTTTGAAATGCTGTCCTACAACCTCTATGACTTGCTGAGAAACACCAATTTCCGAGGGGTCTCTTTGAACCTAACACGAAAGTTTGCGCAACAGATGTGCACTGCACTGCTTTTCCTTGCGACTCCAGAACTTAGTATCATTCACTGTGATCTAAAACCTGAAAATATCCTTCTTTGTAACCCCAAACGCAGTGCAATCAAGATAGTTGACTTTGGCAGTTCTTGTCAGTTGGGGCAGAGGGTAAGTATTATTTCAGAACTTGTGAATTAAATAGAAATTAAATAGAAGTAGGTAGGACAGTGTAGGTATTAGGTTGGCGCAAAAGTAATTGCGGTTTTCGCCATTGCAGTTGCTGTTTTTGCAGTGGCAAAAACCGCAATTACTTTTGCGCCAACCTAATAGATATTTGAAATGTTAATAAGGTGTATACCATTTAGAGGCAATTACAGGATGCTTATTTATCTTTAAAATGTAGCACTTAATTACCTTGTGTTGATATCTATTTTGGGGAAATACCTTTTAAAATGCAAATAGCAATACTTTGAGTCAAAAGACATTGATTTTTTTGAAATGGGTATATTTAAAATTGTATGTATGCTAAAAGATTAAGGGAGAGAATAGGAGATGGAATGATTAAATATTAGGGGATTTGTAACTATATTTCCCAAGTAAAGGTTTTAGTATAAATTTTGGGACTTTCCAGTACTAGAACATTGAATCTTTGCTGTAAAATACTTCTCTGAAGATGGATCAAGATAAATCTTTTTTCTCAAAAACTGATGGTTCAAAAAAATGCAGGTAATTTTGCATTAGTCATGGTATAAGTATAGAAAATTCAGTTGATAGACTTACTTGTTTTGATAAATAAGTTTGTCTTATTTTCCCCACTCTTATTTAAAATTTACATAAATTCTGACACATATCCAAGCTGGTTTTTTTCAGACTGCTAAAAACAGATGTGTTCGTAGTGCTGATAAGTTTAGCTGATTTAGGAAAGCAGTTTTTTCCTGTCATTCTTCCAGCATTATGAAAACTACTCTAACAGCATTGTTTTATGTATAAAATAGAAGTGATAGGGGTCTCCTCTTGAAAGGAATTAGTGTCACCATTTGATAATATTTTACTCATTTTAAGCACTATTCTTTTTGCTTTAAGTATTGAAACTATATTTCTTCTGTTTTAAAGAAACCCGGCTAACATACAGATGTTAATTTTTCTTACTGACTTTTCTGTTTCTTATTTTTCCAAATTAGTGAAATTTTCTGTCCCGTCCTACTTTTGTCCAGGTTTTAACTATAACAGATTAATTTAATCATAAGGATTTATAGCCAATTAATAGGACTGTCTTTTTGTTATTTTCTGCAACTTCTCATGGTAGTGAGGCTATCAAATGTTAAAGTAATTTTTAAAAATTGGAGTAGGGAGCAAAGTTTGCAGTTTTAGATGCCTTCAAAAAATCAAGAGATGCTCGTAGTTAATATGTGGTAGAGTATATTGTGAATGAAAAATACATGCCCATCTTGACAGTAATTTGAATAGATTATAGAGTTGGGAAAATTTCCCCCTATTTAAGCCAAATTATGTATTTTGTCCTAATATTAAACATTATTATTTCTGTCTAGCCAAAATGAGCCAGTTATCCCTACAATAAGTTTTTAACTATTCAAGTTCATTGGCATCACATGGGAAGTTATTTCTAAAATAGACCTGCAGTGGTCCTGCCCCTAGATCTGTTGGATTAGAATCAGAAGGTGGTAGGGCAAGTGTGTTTTGGGGAAAGCAACTGCTTTAAACAAATTAGATAGGGAGGTGACAAAGTTCTTGGCATAAGCTGTGAAATAAAAGTCTCAGGAGTGGTGAGTGTTTGGGCCTAGGGAGTTAACAATGGTATTGGCTTATAAAAACCATGGAAATGTAATACTTCTTCCCAGTTCTTTTAAATTAGACTTTCTTCTCATAGTTCCTTAAGGTTGGTTGACCTACCTGTGGAGGCCTGAGATTGTTCTCGAAGACTTGGCTNN
|
pathogenic
| 318,921 |
Is the genetic mutation found on chromosome 21 at position 37490208, within the gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['DYRK1A-related_intellectual_disability_syndrome']
|
TAAAGTTGACATTAATGATCATATTATTAATTGTATTAGTTATTACAGATACTCTTTGGATGAGTTTTTAAATTCTTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGTAGCCAAATTTCTTATCTGGATTATTTGGTACCTGCCATGGTCTAGTTAAAAGAAAATTTAGTTGAAGTCTTCAACAAAGTCTTGCCAGCCCTCCATTCTCCCCAAAATTTGGTTAAAAAGACTGAACAAATATGCTTGTTTGAGCTTTCTTTGACAATGTCTTTAGTGCTCAGCACACTGTAGATACTAAGTAAATGAATAAAGAATTGTGAGGTCAAGTGAAACTAAGTAGATCTTTCATTGGACGAACATTGTGATCACAGAGCTTCTTAAAGGAATTTTTATAATCACATTAGAATTCTGACAGCAGTTACTTTTTGCATTCATTTAGTGGCACCTGCTTAACCAGGAGATTAAAAGCCATCCACAGACCATGATTGTGAGGTATCATGGAACTATGTTTTTAGTTTTAAACCTATAAACTGAAGTGACTAAGAGCAGATATTTTACATTCTTAGGTAACATTTAAGGATTCCTTTTGTTATTTTTAGTATCGAGTTGTGCTGTAGACTCCTATATAGCCATGTAGTTATTTTTATTGTGTTACTTATTCTAACTTTAGATCACCTATACCATGAAAGATCTAAAAGCAATATTGATGTTCACTGCTTTGAGGCAGGCAGCCCAGGACTATTCCCAGGAAAACACAATGTATCCACAGTTCTTAGTGATCAGACATTGATTACTATCAGTTTATTCCAGATAGATCTGTAGAGAAACCTCTCATTTTGTAATACTATAAGATAAAATGAAAATCACCTTGACAGATGGGTGTTTTATGTCATTGCAGTTGTGTTACAGGTGCTCAGTTTGGTATATATAAGACTTAACAGGGAGGGACAGCACTTTATCGAATAACCTCATCTGATGTGACGTCAGTGTTAATAGTTAAAGCACAATCTTTGAGGCAATTTAGTGAGTATTCAGCCTTTTTAGAGGGTCAACAGTGATAGCGACCTATGTATTCTATGCTGTTTCCCCACTCACAAGCCTCCTTATCATCTCTTCTTGTAGCTGAGCTTTATTTTGAAGTTTTCCAAACCTTCAGTCTCACACAAGAGTTGTCACTTACCAATTTGATAAACACAGTTAAGTCCTCCAATACTTTTACCAAAGCATGATTTTCAGACATTTGTTGTATTTGCCTAAAGGGTAAAAAAAAAAAAGGCTATCAATGAAAATTGTGACAGAAAATTACCAGTGAAATCTAAAGTTCAGCAGTGCAGATACATTTCAAAGCCTACACAGAGGGCTGCCAACTACAGCATTGTCACAAACCAGAGATCCCAGTAGGTGGAGCTTAGACATAGGAAGTTGTGAGGTAGGGCTCTCGGGAAGTAAAAAGTGCTTTCTTTTATAAATGAAGATAAAATTGCTGAAATATTCTCACTGCTGTTTGTCCATTTGGTCCTTATGTTTTCAGATCTGACTTTTAGAGAAACAAGGCATTTTGGTAGCACTGCTTACCTTATATCACTTACCGACATATGCTGTACCTGTTTAATTCAGCAGAAGAGCAACTTAGATATTCTTAACTGATTGAAAACTGCTGTTATTACAAAATGCTGATCTCCAAACTTTAACTGAACTCTGCATTTGATGTAATAATGTTATAGAACATTTGAGAGTGCATGTGTTTGTTACTCTCAGTTTATTGGTATATATAATTTAAAATGAAACTGTTTTCTCTTTCAGTGCATTTGAAACGCCACTTTATGTTTCGAAACCATCTCTGTTTAGTTTTTGAAATGCTGTCCTACAACCTCTATGACTTGCTGAGAAACACCAATTTCCGAGGGGTCTCTTTGAACCTAACACGAAAGTTTGCGCAACAGATGTGCACTGCACTGCTTTTCCTTGCGACTCCAGAACTTAGTATCATTCACTGTGATCTAAAACCTGAAAATATCCTTCTTTGTAACCCCAAACGCAGTGCAATCAAGATAGTTGACTTTGGCAGTTCTTGTCAGTTGGGGCAGAGGGTAAGTATTATTTCAGAACTTGTGAATTAAATAGAAATTAAATAGAAGTAGGTAGGACAGTGTAGGTATTAGGTTGGCGCAAAAGTAATTGCGGTTTTCGCCATTGCAGTTGCTGTTTTTGCAGTGGCAAAAACCGCAATTACTTTTGCGCCAACCTAATAGATATTTGAAATGTTAATAAGGTGTATACCATTTAGAGGCAATTACAGGATGCTTATTTATCTTTAAAATGTAGCACTTAATTACCTTGTGTTGATATCTATTTTGGGGAAATACCTTTTAAAATGCAAATAGCAATACTTTGAGTCAAAAGACATTGATTTTTTTGAAATGGGTATATTTAAAATTGTATGTATGCTAAAAGATTAAGGGAGAGAATAGGAGATGGAATGATTAAATATTAGGGGATTTGTAACTATATTTCCCAAGTAAAGGTTTTAGTATAAATTTTGGGACTTTCCAGTACTAGAACATTGAATCTTTGCTGTAAAATACTTCTCTGAAGATGGATCAAGATAAATCTTTTTTCTCAAAAACTGATGGTTCAAAAAAATGCAGGTAATTTTGCATTAGTCATGGTATAAGTATAGAAAATTCAGTTGATAGACTTACTTGTTTTGATAAATAAGTTTGTCTTATTTTCCCCACTCTTATTTAAAATTTACATAAATTCTGACACATATCCAAGCTGGTTTTTTTCAGACTGCTAAAAACAGATGTGTTCGTAGTGCTGATAAGTTTAGCTGATTTAGGAAAGCAGTTTTTTCCTGTCATTCTTCCAGCATTATGAAAACTACTCTAACAGCATTGTTTTATGTATAAAATAGAAGTGATAGGGGTCTCCTCTTGAAAGGAATTAGTGTCACCATTTGATAATATTTTACTCATTTTAAGCACTATTCTTTTTGCTTTAAGTATTGAAACTATATTTCTTCTGTTTTAAAGAAACCCGGCTAACATACAGATGTTAATTTTTCTTACTGACTTTTCTGTTTCTTATTTTTCCAAATTAGTGAAATTTTCTGTCCCGTCCTACTTTTGTCCAGGTTTTAACTATAACAGATTAATTTAATCATAAGGATTTATAGCCAATTAATAGGACTGTCTTTTTGTTATTTTCTGCAACTTCTCATGGTAGTGAGGCTATCAAATGTTAAAGTAATTTTTAAAAATTGGAGTAGGGAGCAAAGTTTGCAGTTTTAGATGCCTTCAAAAAATCAAGAGATGCTCGTAGTTAATATGTGGTAGAGTATATTGTGAATGAAAAATACATGCCCATCTTGACAGTAATTTGAATAGATTATAGAGTTGGGAAAATTTCCCCCTATTTAAGCCAAATTATGTATTTTGTCCTAATATTAAACATTATTATTTCTGTCTAGCCAAAATGAGCCAGTTATCCCTACAATAAGTTTTTAACTATTCAAGTTCATTGGCATCACATGGGAAGTTATTTCTAAAATAGACCTGCAGTGGTCCTGCCCCTAGATCTGTTGGATTAGAATCAGAAGGTGGTAGGGCAAGTGTGTTTTGGGGAAAGCAACTGCTTTAAACAAATTAGATAGGGAGGTGACAAAGTTCTTGGCATAAGCTGTGAAATAAAAGTCTCAGGAGTGGTGAGTGTTTGGGCCTAGGGAGTTAACAATGGTATTGGCTTATAAAAACCATGGAAATGTAATACTTCTTCCCAGTTCTTTTAAATTAGACTTTCTTCTCATAGTTCCTTAAGGTTGGTTGACCTACCTGTGGAGGCCTGAGATTGTTCTCGAAGACTTGGCTGGAGGTTTCAGTGGG
|
TAAAGTTGACATTAATGATCATATTATTAATTGTATTAGTTATTACAGATACTCTTTGGATGAGTTTTTAAATTCTTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGTAGCCAAATTTCTTATCTGGATTATTTGGTACCTGCCATGGTCTAGTTAAAAGAAAATTTAGTTGAAGTCTTCAACAAAGTCTTGCCAGCCCTCCATTCTCCCCAAAATTTGGTTAAAAAGACTGAACAAATATGCTTGTTTGAGCTTTCTTTGACAATGTCTTTAGTGCTCAGCACACTGTAGATACTAAGTAAATGAATAAAGAATTGTGAGGTCAAGTGAAACTAAGTAGATCTTTCATTGGACGAACATTGTGATCACAGAGCTTCTTAAAGGAATTTTTATAATCACATTAGAATTCTGACAGCAGTTACTTTTTGCATTCATTTAGTGGCACCTGCTTAACCAGGAGATTAAAAGCCATCCACAGACCATGATTGTGAGGTATCATGGAACTATGTTTTTAGTTTTAAACCTATAAACTGAAGTGACTAAGAGCAGATATTTTACATTCTTAGGTAACATTTAAGGATTCCTTTTGTTATTTTTAGTATCGAGTTGTGCTGTAGACTCCTATATAGCCATGTAGTTATTTTTATTGTGTTACTTATTCTAACTTTAGATCACCTATACCATGAAAGATCTAAAAGCAATATTGATGTTCACTGCTTTGAGGCAGGCAGCCCAGGACTATTCCCAGGAAAACACAATGTATCCACAGTTCTTAGTGATCAGACATTGATTACTATCAGTTTATTCCAGATAGATCTGTAGAGAAACCTCTCATTTTGTAATACTATAAGATAAAATGAAAATCACCTTGACAGATGGGTGTTTTATGTCATTGCAGTTGTGTTACAGGTGCTCAGTTTGGTATATATAAGACTTAACAGGGAGGGACAGCACTTTATCGAATAACCTCATCTGATGTGACGTCAGTGTTAATAGTTAAAGCACAATCTTTGAGGCAATTTAGTGAGTATTCAGCCTTTTTAGAGGGTCAACAGTGATAGCGACCTATGTATTCTATGCTGTTTCCCCACTCACAAGCCTCCTTATCATCTCTTCTTGTAGCTGAGCTTTATTTTGAAGTTTTCCAAACCTTCAGTCTCACACAAGAGTTGTCACTTACCAATTTGATAAACACAGTTAAGTCCTCCAATACTTTTACCAAAGCATGATTTTCAGACATTTGTTGTATTTGCCTAAAGGGTAAAAAAAAAAAAGGCTATCAATGAAAATTGTGACAGAAAATTACCAGTGAAATCTAAAGTTCAGCAGTGCAGATACATTTCAAAGCCTACACAGAGGGCTGCCAACTACAGCATTGTCACAAACCAGAGATCCCAGTAGGTGGAGCTTAGACATAGGAAGTTGTGAGGTAGGGCTCTCGGGAAGTAAAAAGTGCTTTCTTTTATAAATGAAGATAAAATTGCTGAAATATTCTCACTGCTGTTTGTCCATTTGGTCCTTATGTTTTCAGATCTGACTTTTAGAGAAACAAGGCATTTTGGTAGCACTGCTTACCTTATATCACTTACCGACATATGCTGTACCTGTTTAATTCAGCAGAAGAGCAACTTAGATATTCTTAACTGATTGAAAACTGCTGTTATTACAAAATGCTGATCTCCAAACTTTAACTGAACTCTGCATTTGATGTAATAATGTTATAGAACATTTGAGAGTGCATGTGTTTGTTACTCTCAGTTTATTGGTATATATAATTTAAAATGAAACTGTTTTCTCTTTCAGTGCATTTGAAACGCCACTTTATGTTTCGAAACCATCTGTTTAGTTTTTGAAATGCTGTCCTACAACCTCTATGACTTGCTGAGAAACACCAATTTCCGAGGGGTCTCTTTGAACCTAACACGAAAGTTTGCGCAACAGATGTGCACTGCACTGCTTTTCCTTGCGACTCCAGAACTTAGTATCATTCACTGTGATCTAAAACCTGAAAATATCCTTCTTTGTAACCCCAAACGCAGTGCAATCAAGATAGTTGACTTTGGCAGTTCTTGTCAGTTGGGGCAGAGGGTAAGTATTATTTCAGAACTTGTGAATTAAATAGAAATTAAATAGAAGTAGGTAGGACAGTGTAGGTATTAGGTTGGCGCAAAAGTAATTGCGGTTTTCGCCATTGCAGTTGCTGTTTTTGCAGTGGCAAAAACCGCAATTACTTTTGCGCCAACCTAATAGATATTTGAAATGTTAATAAGGTGTATACCATTTAGAGGCAATTACAGGATGCTTATTTATCTTTAAAATGTAGCACTTAATTACCTTGTGTTGATATCTATTTTGGGGAAATACCTTTTAAAATGCAAATAGCAATACTTTGAGTCAAAAGACATTGATTTTTTTGAAATGGGTATATTTAAAATTGTATGTATGCTAAAAGATTAAGGGAGAGAATAGGAGATGGAATGATTAAATATTAGGGGATTTGTAACTATATTTCCCAAGTAAAGGTTTTAGTATAAATTTTGGGACTTTCCAGTACTAGAACATTGAATCTTTGCTGTAAAATACTTCTCTGAAGATGGATCAAGATAAATCTTTTTTCTCAAAAACTGATGGTTCAAAAAAATGCAGGTAATTTTGCATTAGTCATGGTATAAGTATAGAAAATTCAGTTGATAGACTTACTTGTTTTGATAAATAAGTTTGTCTTATTTTCCCCACTCTTATTTAAAATTTACATAAATTCTGACACATATCCAAGCTGGTTTTTTTCAGACTGCTAAAAACAGATGTGTTCGTAGTGCTGATAAGTTTAGCTGATTTAGGAAAGCAGTTTTTTCCTGTCATTCTTCCAGCATTATGAAAACTACTCTAACAGCATTGTTTTATGTATAAAATAGAAGTGATAGGGGTCTCCTCTTGAAAGGAATTAGTGTCACCATTTGATAATATTTTACTCATTTTAAGCACTATTCTTTTTGCTTTAAGTATTGAAACTATATTTCTTCTGTTTTAAAGAAACCCGGCTAACATACAGATGTTAATTTTTCTTACTGACTTTTCTGTTTCTTATTTTTCCAAATTAGTGAAATTTTCTGTCCCGTCCTACTTTTGTCCAGGTTTTAACTATAACAGATTAATTTAATCATAAGGATTTATAGCCAATTAATAGGACTGTCTTTTTGTTATTTTCTGCAACTTCTCATGGTAGTGAGGCTATCAAATGTTAAAGTAATTTTTAAAAATTGGAGTAGGGAGCAAAGTTTGCAGTTTTAGATGCCTTCAAAAAATCAAGAGATGCTCGTAGTTAATATGTGGTAGAGTATATTGTGAATGAAAAATACATGCCCATCTTGACAGTAATTTGAATAGATTATAGAGTTGGGAAAATTTCCCCCTATTTAAGCCAAATTATGTATTTTGTCCTAATATTAAACATTATTATTTCTGTCTAGCCAAAATGAGCCAGTTATCCCTACAATAAGTTTTTAACTATTCAAGTTCATTGGCATCACATGGGAAGTTATTTCTAAAATAGACCTGCAGTGGTCCTGCCCCTAGATCTGTTGGATTAGAATCAGAAGGTGGTAGGGCAAGTGTGTTTTGGGGAAAGCAACTGCTTTAAACAAATTAGATAGGGAGGTGACAAAGTTCTTGGCATAAGCTGTGAAATAAAAGTCTCAGGAGTGGTGAGTGTTTGGGCCTAGGGAGTTAACAATGGTATTGGCTTATAAAAACCATGGAAATGTAATACTTCTTCCCAGTTCTTTTAAATTAGACTTTCTTCTCATAGTTCCTTAAGGTTGGTTGACCTACCTGTGGAGGCCTGAGATTGTTCTCGAAGACTTGGCTGGAGGTTTCAGTGGGNN
|
pathogenic
| 318,923 |
Considering the genetic mutation at chromosome 21, position 37490283, impacting DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['DYRK1A-related_intellectual_disability_syndrome']
|
TTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGTAGCCAAATTTCTTATCTGGATTATTTGGTACCTGCCATGGTCTAGTTAAAAGAAAATTTAGTTGAAGTCTTCAACAAAGTCTTGCCAGCCCTCCATTCTCCCCAAAATTTGGTTAAAAAGACTGAACAAATATGCTTGTTTGAGCTTTCTTTGACAATGTCTTTAGTGCTCAGCACACTGTAGATACTAAGTAAATGAATAAAGAATTGTGAGGTCAAGTGAAACTAAGTAGATCTTTCATTGGACGAACATTGTGATCACAGAGCTTCTTAAAGGAATTTTTATAATCACATTAGAATTCTGACAGCAGTTACTTTTTGCATTCATTTAGTGGCACCTGCTTAACCAGGAGATTAAAAGCCATCCACAGACCATGATTGTGAGGTATCATGGAACTATGTTTTTAGTTTTAAACCTATAAACTGAAGTGACTAAGAGCAGATATTTTACATTCTTAGGTAACATTTAAGGATTCCTTTTGTTATTTTTAGTATCGAGTTGTGCTGTAGACTCCTATATAGCCATGTAGTTATTTTTATTGTGTTACTTATTCTAACTTTAGATCACCTATACCATGAAAGATCTAAAAGCAATATTGATGTTCACTGCTTTGAGGCAGGCAGCCCAGGACTATTCCCAGGAAAACACAATGTATCCACAGTTCTTAGTGATCAGACATTGATTACTATCAGTTTATTCCAGATAGATCTGTAGAGAAACCTCTCATTTTGTAATACTATAAGATAAAATGAAAATCACCTTGACAGATGGGTGTTTTATGTCATTGCAGTTGTGTTACAGGTGCTCAGTTTGGTATATATAAGACTTAACAGGGAGGGACAGCACTTTATCGAATAACCTCATCTGATGTGACGTCAGTGTTAATAGTTAAAGCACAATCTTTGAGGCAATTTAGTGAGTATTCAGCCTTTTTAGAGGGTCAACAGTGATAGCGACCTATGTATTCTATGCTGTTTCCCCACTCACAAGCCTCCTTATCATCTCTTCTTGTAGCTGAGCTTTATTTTGAAGTTTTCCAAACCTTCAGTCTCACACAAGAGTTGTCACTTACCAATTTGATAAACACAGTTAAGTCCTCCAATACTTTTACCAAAGCATGATTTTCAGACATTTGTTGTATTTGCCTAAAGGGTAAAAAAAAAAAAGGCTATCAATGAAAATTGTGACAGAAAATTACCAGTGAAATCTAAAGTTCAGCAGTGCAGATACATTTCAAAGCCTACACAGAGGGCTGCCAACTACAGCATTGTCACAAACCAGAGATCCCAGTAGGTGGAGCTTAGACATAGGAAGTTGTGAGGTAGGGCTCTCGGGAAGTAAAAAGTGCTTTCTTTTATAAATGAAGATAAAATTGCTGAAATATTCTCACTGCTGTTTGTCCATTTGGTCCTTATGTTTTCAGATCTGACTTTTAGAGAAACAAGGCATTTTGGTAGCACTGCTTACCTTATATCACTTACCGACATATGCTGTACCTGTTTAATTCAGCAGAAGAGCAACTTAGATATTCTTAACTGATTGAAAACTGCTGTTATTACAAAATGCTGATCTCCAAACTTTAACTGAACTCTGCATTTGATGTAATAATGTTATAGAACATTTGAGAGTGCATGTGTTTGTTACTCTCAGTTTATTGGTATATATAATTTAAAATGAAACTGTTTTCTCTTTCAGTGCATTTGAAACGCCACTTTATGTTTCGAAACCATCTCTGTTTAGTTTTTGAAATGCTGTCCTACAACCTCTATGACTTGCTGAGAAACACCAATTTCCGAGGGGTCTCTTTGAACCTAACACGAAAGTTTGCGCAACAGATGTGCACTGCACTGCTTTTCCTTGCGACTCCAGAACTTAGTATCATTCACTGTGATCTAAAACCTGAAAATATCCTTCTTTGTAACCCCAAACGCAGTGCAATCAAGATAGTTGACTTTGGCAGTTCTTGTCAGTTGGGGCAGAGGGTAAGTATTATTTCAGAACTTGTGAATTAAATAGAAATTAAATAGAAGTAGGTAGGACAGTGTAGGTATTAGGTTGGCGCAAAAGTAATTGCGGTTTTCGCCATTGCAGTTGCTGTTTTTGCAGTGGCAAAAACCGCAATTACTTTTGCGCCAACCTAATAGATATTTGAAATGTTAATAAGGTGTATACCATTTAGAGGCAATTACAGGATGCTTATTTATCTTTAAAATGTAGCACTTAATTACCTTGTGTTGATATCTATTTTGGGGAAATACCTTTTAAAATGCAAATAGCAATACTTTGAGTCAAAAGACATTGATTTTTTTGAAATGGGTATATTTAAAATTGTATGTATGCTAAAAGATTAAGGGAGAGAATAGGAGATGGAATGATTAAATATTAGGGGATTTGTAACTATATTTCCCAAGTAAAGGTTTTAGTATAAATTTTGGGACTTTCCAGTACTAGAACATTGAATCTTTGCTGTAAAATACTTCTCTGAAGATGGATCAAGATAAATCTTTTTTCTCAAAAACTGATGGTTCAAAAAAATGCAGGTAATTTTGCATTAGTCATGGTATAAGTATAGAAAATTCAGTTGATAGACTTACTTGTTTTGATAAATAAGTTTGTCTTATTTTCCCCACTCTTATTTAAAATTTACATAAATTCTGACACATATCCAAGCTGGTTTTTTTCAGACTGCTAAAAACAGATGTGTTCGTAGTGCTGATAAGTTTAGCTGATTTAGGAAAGCAGTTTTTTCCTGTCATTCTTCCAGCATTATGAAAACTACTCTAACAGCATTGTTTTATGTATAAAATAGAAGTGATAGGGGTCTCCTCTTGAAAGGAATTAGTGTCACCATTTGATAATATTTTACTCATTTTAAGCACTATTCTTTTTGCTTTAAGTATTGAAACTATATTTCTTCTGTTTTAAAGAAACCCGGCTAACATACAGATGTTAATTTTTCTTACTGACTTTTCTGTTTCTTATTTTTCCAAATTAGTGAAATTTTCTGTCCCGTCCTACTTTTGTCCAGGTTTTAACTATAACAGATTAATTTAATCATAAGGATTTATAGCCAATTAATAGGACTGTCTTTTTGTTATTTTCTGCAACTTCTCATGGTAGTGAGGCTATCAAATGTTAAAGTAATTTTTAAAAATTGGAGTAGGGAGCAAAGTTTGCAGTTTTAGATGCCTTCAAAAAATCAAGAGATGCTCGTAGTTAATATGTGGTAGAGTATATTGTGAATGAAAAATACATGCCCATCTTGACAGTAATTTGAATAGATTATAGAGTTGGGAAAATTTCCCCCTATTTAAGCCAAATTATGTATTTTGTCCTAATATTAAACATTATTATTTCTGTCTAGCCAAAATGAGCCAGTTATCCCTACAATAAGTTTTTAACTATTCAAGTTCATTGGCATCACATGGGAAGTTATTTCTAAAATAGACCTGCAGTGGTCCTGCCCCTAGATCTGTTGGATTAGAATCAGAAGGTGGTAGGGCAAGTGTGTTTTGGGGAAAGCAACTGCTTTAAACAAATTAGATAGGGAGGTGACAAAGTTCTTGGCATAAGCTGTGAAATAAAAGTCTCAGGAGTGGTGAGTGTTTGGGCCTAGGGAGTTAACAATGGTATTGGCTTATAAAAACCATGGAAATGTAATACTTCTTCCCAGTTCTTTTAAATTAGACTTTCTTCTCATAGTTCCTTAAGGTTGGTTGACCTACCTGTGGAGGCCTGAGATTGTTCTCGAAGACTTGGCTGGAGGTTTCAGTGGGAACCACAGAAAATTTCATGAGCTTTCTGGCTGCATGGTTTGGGTGTTAGGAAATTTAGTTAGGATTTTATTTCTT
|
TTATTTCAGAAGATGGTGAATGCATAACGTCTCAAGAAACTGAGATTCTGTTTGGAAAACAAAAGAACTTTAGATTAGACAAGTTCATATCAATTGAATTGATACCTTAAACTTAAGGTATCCGAAAGTCATATTGATTTTTATGATGTAAATTAGTTTTAAAGTGATTGATGAGTCTGATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGTAGCCAAATTTCTTATCTGGATTATTTGGTACCTGCCATGGTCTAGTTAAAAGAAAATTTAGTTGAAGTCTTCAACAAAGTCTTGCCAGCCCTCCATTCTCCCCAAAATTTGGTTAAAAAGACTGAACAAATATGCTTGTTTGAGCTTTCTTTGACAATGTCTTTAGTGCTCAGCACACTGTAGATACTAAGTAAATGAATAAAGAATTGTGAGGTCAAGTGAAACTAAGTAGATCTTTCATTGGACGAACATTGTGATCACAGAGCTTCTTAAAGGAATTTTTATAATCACATTAGAATTCTGACAGCAGTTACTTTTTGCATTCATTTAGTGGCACCTGCTTAACCAGGAGATTAAAAGCCATCCACAGACCATGATTGTGAGGTATCATGGAACTATGTTTTTAGTTTTAAACCTATAAACTGAAGTGACTAAGAGCAGATATTTTACATTCTTAGGTAACATTTAAGGATTCCTTTTGTTATTTTTAGTATCGAGTTGTGCTGTAGACTCCTATATAGCCATGTAGTTATTTTTATTGTGTTACTTATTCTAACTTTAGATCACCTATACCATGAAAGATCTAAAAGCAATATTGATGTTCACTGCTTTGAGGCAGGCAGCCCAGGACTATTCCCAGGAAAACACAATGTATCCACAGTTCTTAGTGATCAGACATTGATTACTATCAGTTTATTCCAGATAGATCTGTAGAGAAACCTCTCATTTTGTAATACTATAAGATAAAATGAAAATCACCTTGACAGATGGGTGTTTTATGTCATTGCAGTTGTGTTACAGGTGCTCAGTTTGGTATATATAAGACTTAACAGGGAGGGACAGCACTTTATCGAATAACCTCATCTGATGTGACGTCAGTGTTAATAGTTAAAGCACAATCTTTGAGGCAATTTAGTGAGTATTCAGCCTTTTTAGAGGGTCAACAGTGATAGCGACCTATGTATTCTATGCTGTTTCCCCACTCACAAGCCTCCTTATCATCTCTTCTTGTAGCTGAGCTTTATTTTGAAGTTTTCCAAACCTTCAGTCTCACACAAGAGTTGTCACTTACCAATTTGATAAACACAGTTAAGTCCTCCAATACTTTTACCAAAGCATGATTTTCAGACATTTGTTGTATTTGCCTAAAGGGTAAAAAAAAAAAAGGCTATCAATGAAAATTGTGACAGAAAATTACCAGTGAAATCTAAAGTTCAGCAGTGCAGATACATTTCAAAGCCTACACAGAGGGCTGCCAACTACAGCATTGTCACAAACCAGAGATCCCAGTAGGTGGAGCTTAGACATAGGAAGTTGTGAGGTAGGGCTCTCGGGAAGTAAAAAGTGCTTTCTTTTATAAATGAAGATAAAATTGCTGAAATATTCTCACTGCTGTTTGTCCATTTGGTCCTTATGTTTTCAGATCTGACTTTTAGAGAAACAAGGCATTTTGGTAGCACTGCTTACCTTATATCACTTACCGACATATGCTGTACCTGTTTAATTCAGCAGAAGAGCAACTTAGATATTCTTAACTGATTGAAAACTGCTGTTATTACAAAATGCTGATCTCCAAACTTTAACTGAACTCTGCATTTGATGTAATAATGTTATAGAACATTTGAGAGTGCATGTGTTTGTTACTCTCAGTTTATTGGTATATATAATTTAAAATGAAACTGTTTTCTCTTTCAGTGCATTTGAAACGCCACTTTATGTTTCGAAACCATCTCTGTTTAGTTTTTGAAATGCTGTCCTACAACCTCTATGACTTGCTGAGAAACACCAATTTCCGAGGGGTCTCTGAACCTAACACGAAAGTTTGCGCAACAGATGTGCACTGCACTGCTTTTCCTTGCGACTCCAGAACTTAGTATCATTCACTGTGATCTAAAACCTGAAAATATCCTTCTTTGTAACCCCAAACGCAGTGCAATCAAGATAGTTGACTTTGGCAGTTCTTGTCAGTTGGGGCAGAGGGTAAGTATTATTTCAGAACTTGTGAATTAAATAGAAATTAAATAGAAGTAGGTAGGACAGTGTAGGTATTAGGTTGGCGCAAAAGTAATTGCGGTTTTCGCCATTGCAGTTGCTGTTTTTGCAGTGGCAAAAACCGCAATTACTTTTGCGCCAACCTAATAGATATTTGAAATGTTAATAAGGTGTATACCATTTAGAGGCAATTACAGGATGCTTATTTATCTTTAAAATGTAGCACTTAATTACCTTGTGTTGATATCTATTTTGGGGAAATACCTTTTAAAATGCAAATAGCAATACTTTGAGTCAAAAGACATTGATTTTTTTGAAATGGGTATATTTAAAATTGTATGTATGCTAAAAGATTAAGGGAGAGAATAGGAGATGGAATGATTAAATATTAGGGGATTTGTAACTATATTTCCCAAGTAAAGGTTTTAGTATAAATTTTGGGACTTTCCAGTACTAGAACATTGAATCTTTGCTGTAAAATACTTCTCTGAAGATGGATCAAGATAAATCTTTTTTCTCAAAAACTGATGGTTCAAAAAAATGCAGGTAATTTTGCATTAGTCATGGTATAAGTATAGAAAATTCAGTTGATAGACTTACTTGTTTTGATAAATAAGTTTGTCTTATTTTCCCCACTCTTATTTAAAATTTACATAAATTCTGACACATATCCAAGCTGGTTTTTTTCAGACTGCTAAAAACAGATGTGTTCGTAGTGCTGATAAGTTTAGCTGATTTAGGAAAGCAGTTTTTTCCTGTCATTCTTCCAGCATTATGAAAACTACTCTAACAGCATTGTTTTATGTATAAAATAGAAGTGATAGGGGTCTCCTCTTGAAAGGAATTAGTGTCACCATTTGATAATATTTTACTCATTTTAAGCACTATTCTTTTTGCTTTAAGTATTGAAACTATATTTCTTCTGTTTTAAAGAAACCCGGCTAACATACAGATGTTAATTTTTCTTACTGACTTTTCTGTTTCTTATTTTTCCAAATTAGTGAAATTTTCTGTCCCGTCCTACTTTTGTCCAGGTTTTAACTATAACAGATTAATTTAATCATAAGGATTTATAGCCAATTAATAGGACTGTCTTTTTGTTATTTTCTGCAACTTCTCATGGTAGTGAGGCTATCAAATGTTAAAGTAATTTTTAAAAATTGGAGTAGGGAGCAAAGTTTGCAGTTTTAGATGCCTTCAAAAAATCAAGAGATGCTCGTAGTTAATATGTGGTAGAGTATATTGTGAATGAAAAATACATGCCCATCTTGACAGTAATTTGAATAGATTATAGAGTTGGGAAAATTTCCCCCTATTTAAGCCAAATTATGTATTTTGTCCTAATATTAAACATTATTATTTCTGTCTAGCCAAAATGAGCCAGTTATCCCTACAATAAGTTTTTAACTATTCAAGTTCATTGGCATCACATGGGAAGTTATTTCTAAAATAGACCTGCAGTGGTCCTGCCCCTAGATCTGTTGGATTAGAATCAGAAGGTGGTAGGGCAAGTGTGTTTTGGGGAAAGCAACTGCTTTAAACAAATTAGATAGGGAGGTGACAAAGTTCTTGGCATAAGCTGTGAAATAAAAGTCTCAGGAGTGGTGAGTGTTTGGGCCTAGGGAGTTAACAATGGTATTGGCTTATAAAAACCATGGAAATGTAATACTTCTTCCCAGTTCTTTTAAATTAGACTTTCTTCTCATAGTTCCTTAAGGTTGGTTGACCTACCTGTGGAGGCCTGAGATTGTTCTCGAAGACTTGGCTGGAGGTTTCAGTGGGAACCACAGAAAATTTCATGAGCTTTCTGGCTGCATGGTTTGGGTGTTAGGAAATTTAGTTAGGATTTTATTTCTTNN
|
pathogenic
| 318,927 |
Considering the genetic mutation at chromosome 21, position 37490461, impacting DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Complex_neurodevelopmental_disorder', 'DYRK1A-related_intellectual_disability_syndrome']
|
GATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGTAGCCAAATTTCTTATCTGGATTATTTGGTACCTGCCATGGTCTAGTTAAAAGAAAATTTAGTTGAAGTCTTCAACAAAGTCTTGCCAGCCCTCCATTCTCCCCAAAATTTGGTTAAAAAGACTGAACAAATATGCTTGTTTGAGCTTTCTTTGACAATGTCTTTAGTGCTCAGCACACTGTAGATACTAAGTAAATGAATAAAGAATTGTGAGGTCAAGTGAAACTAAGTAGATCTTTCATTGGACGAACATTGTGATCACAGAGCTTCTTAAAGGAATTTTTATAATCACATTAGAATTCTGACAGCAGTTACTTTTTGCATTCATTTAGTGGCACCTGCTTAACCAGGAGATTAAAAGCCATCCACAGACCATGATTGTGAGGTATCATGGAACTATGTTTTTAGTTTTAAACCTATAAACTGAAGTGACTAAGAGCAGATATTTTACATTCTTAGGTAACATTTAAGGATTCCTTTTGTTATTTTTAGTATCGAGTTGTGCTGTAGACTCCTATATAGCCATGTAGTTATTTTTATTGTGTTACTTATTCTAACTTTAGATCACCTATACCATGAAAGATCTAAAAGCAATATTGATGTTCACTGCTTTGAGGCAGGCAGCCCAGGACTATTCCCAGGAAAACACAATGTATCCACAGTTCTTAGTGATCAGACATTGATTACTATCAGTTTATTCCAGATAGATCTGTAGAGAAACCTCTCATTTTGTAATACTATAAGATAAAATGAAAATCACCTTGACAGATGGGTGTTTTATGTCATTGCAGTTGTGTTACAGGTGCTCAGTTTGGTATATATAAGACTTAACAGGGAGGGACAGCACTTTATCGAATAACCTCATCTGATGTGACGTCAGTGTTAATAGTTAAAGCACAATCTTTGAGGCAATTTAGTGAGTATTCAGCCTTTTTAGAGGGTCAACAGTGATAGCGACCTATGTATTCTATGCTGTTTCCCCACTCACAAGCCTCCTTATCATCTCTTCTTGTAGCTGAGCTTTATTTTGAAGTTTTCCAAACCTTCAGTCTCACACAAGAGTTGTCACTTACCAATTTGATAAACACAGTTAAGTCCTCCAATACTTTTACCAAAGCATGATTTTCAGACATTTGTTGTATTTGCCTAAAGGGTAAAAAAAAAAAAGGCTATCAATGAAAATTGTGACAGAAAATTACCAGTGAAATCTAAAGTTCAGCAGTGCAGATACATTTCAAAGCCTACACAGAGGGCTGCCAACTACAGCATTGTCACAAACCAGAGATCCCAGTAGGTGGAGCTTAGACATAGGAAGTTGTGAGGTAGGGCTCTCGGGAAGTAAAAAGTGCTTTCTTTTATAAATGAAGATAAAATTGCTGAAATATTCTCACTGCTGTTTGTCCATTTGGTCCTTATGTTTTCAGATCTGACTTTTAGAGAAACAAGGCATTTTGGTAGCACTGCTTACCTTATATCACTTACCGACATATGCTGTACCTGTTTAATTCAGCAGAAGAGCAACTTAGATATTCTTAACTGATTGAAAACTGCTGTTATTACAAAATGCTGATCTCCAAACTTTAACTGAACTCTGCATTTGATGTAATAATGTTATAGAACATTTGAGAGTGCATGTGTTTGTTACTCTCAGTTTATTGGTATATATAATTTAAAATGAAACTGTTTTCTCTTTCAGTGCATTTGAAACGCCACTTTATGTTTCGAAACCATCTCTGTTTAGTTTTTGAAATGCTGTCCTACAACCTCTATGACTTGCTGAGAAACACCAATTTCCGAGGGGTCTCTTTGAACCTAACACGAAAGTTTGCGCAACAGATGTGCACTGCACTGCTTTTCCTTGCGACTCCAGAACTTAGTATCATTCACTGTGATCTAAAACCTGAAAATATCCTTCTTTGTAACCCCAAACGCAGTGCAATCAAGATAGTTGACTTTGGCAGTTCTTGTCAGTTGGGGCAGAGGGTAAGTATTATTTCAGAACTTGTGAATTAAATAGAAATTAAATAGAAGTAGGTAGGACAGTGTAGGTATTAGGTTGGCGCAAAAGTAATTGCGGTTTTCGCCATTGCAGTTGCTGTTTTTGCAGTGGCAAAAACCGCAATTACTTTTGCGCCAACCTAATAGATATTTGAAATGTTAATAAGGTGTATACCATTTAGAGGCAATTACAGGATGCTTATTTATCTTTAAAATGTAGCACTTAATTACCTTGTGTTGATATCTATTTTGGGGAAATACCTTTTAAAATGCAAATAGCAATACTTTGAGTCAAAAGACATTGATTTTTTTGAAATGGGTATATTTAAAATTGTATGTATGCTAAAAGATTAAGGGAGAGAATAGGAGATGGAATGATTAAATATTAGGGGATTTGTAACTATATTTCCCAAGTAAAGGTTTTAGTATAAATTTTGGGACTTTCCAGTACTAGAACATTGAATCTTTGCTGTAAAATACTTCTCTGAAGATGGATCAAGATAAATCTTTTTTCTCAAAAACTGATGGTTCAAAAAAATGCAGGTAATTTTGCATTAGTCATGGTATAAGTATAGAAAATTCAGTTGATAGACTTACTTGTTTTGATAAATAAGTTTGTCTTATTTTCCCCACTCTTATTTAAAATTTACATAAATTCTGACACATATCCAAGCTGGTTTTTTTCAGACTGCTAAAAACAGATGTGTTCGTAGTGCTGATAAGTTTAGCTGATTTAGGAAAGCAGTTTTTTCCTGTCATTCTTCCAGCATTATGAAAACTACTCTAACAGCATTGTTTTATGTATAAAATAGAAGTGATAGGGGTCTCCTCTTGAAAGGAATTAGTGTCACCATTTGATAATATTTTACTCATTTTAAGCACTATTCTTTTTGCTTTAAGTATTGAAACTATATTTCTTCTGTTTTAAAGAAACCCGGCTAACATACAGATGTTAATTTTTCTTACTGACTTTTCTGTTTCTTATTTTTCCAAATTAGTGAAATTTTCTGTCCCGTCCTACTTTTGTCCAGGTTTTAACTATAACAGATTAATTTAATCATAAGGATTTATAGCCAATTAATAGGACTGTCTTTTTGTTATTTTCTGCAACTTCTCATGGTAGTGAGGCTATCAAATGTTAAAGTAATTTTTAAAAATTGGAGTAGGGAGCAAAGTTTGCAGTTTTAGATGCCTTCAAAAAATCAAGAGATGCTCGTAGTTAATATGTGGTAGAGTATATTGTGAATGAAAAATACATGCCCATCTTGACAGTAATTTGAATAGATTATAGAGTTGGGAAAATTTCCCCCTATTTAAGCCAAATTATGTATTTTGTCCTAATATTAAACATTATTATTTCTGTCTAGCCAAAATGAGCCAGTTATCCCTACAATAAGTTTTTAACTATTCAAGTTCATTGGCATCACATGGGAAGTTATTTCTAAAATAGACCTGCAGTGGTCCTGCCCCTAGATCTGTTGGATTAGAATCAGAAGGTGGTAGGGCAAGTGTGTTTTGGGGAAAGCAACTGCTTTAAACAAATTAGATAGGGAGGTGACAAAGTTCTTGGCATAAGCTGTGAAATAAAAGTCTCAGGAGTGGTGAGTGTTTGGGCCTAGGGAGTTAACAATGGTATTGGCTTATAAAAACCATGGAAATGTAATACTTCTTCCCAGTTCTTTTAAATTAGACTTTCTTCTCATAGTTCCTTAAGGTTGGTTGACCTACCTGTGGAGGCCTGAGATTGTTCTCGAAGACTTGGCTGGAGGTTTCAGTGGGAACCACAGAAAATTTCATGAGCTTTCTGGCTGCATGGTTTGGGTGTTAGGAAATTTAGTTAGGATTTTATTTCTTTTCCACTTTTAATAAGTGAAACAAATTGGTCTCTGAAGACATCCTAACATTACTTCATTGAAAATAGTCCATTTCAGGATTGTCTTTCTATAAGAAGTCTTGGATGGAGGTAGAGAGAGAAGATGAGAGAAGAAGCTATTGGTCAGAGACAGCTCTCAATTGAATCTTTATGTGGCAG
|
GATTTATTCTGATGAGTTTTATTGTCTTGTCTTTGAACTTTAAAAAACATCTACTTCTTTACTGTGTAGCCAAATTTCTTATCTGGATTATTTGGTACCTGCCATGGTCTAGTTAAAAGAAAATTTAGTTGAAGTCTTCAACAAAGTCTTGCCAGCCCTCCATTCTCCCCAAAATTTGGTTAAAAAGACTGAACAAATATGCTTGTTTGAGCTTTCTTTGACAATGTCTTTAGTGCTCAGCACACTGTAGATACTAAGTAAATGAATAAAGAATTGTGAGGTCAAGTGAAACTAAGTAGATCTTTCATTGGACGAACATTGTGATCACAGAGCTTCTTAAAGGAATTTTTATAATCACATTAGAATTCTGACAGCAGTTACTTTTTGCATTCATTTAGTGGCACCTGCTTAACCAGGAGATTAAAAGCCATCCACAGACCATGATTGTGAGGTATCATGGAACTATGTTTTTAGTTTTAAACCTATAAACTGAAGTGACTAAGAGCAGATATTTTACATTCTTAGGTAACATTTAAGGATTCCTTTTGTTATTTTTAGTATCGAGTTGTGCTGTAGACTCCTATATAGCCATGTAGTTATTTTTATTGTGTTACTTATTCTAACTTTAGATCACCTATACCATGAAAGATCTAAAAGCAATATTGATGTTCACTGCTTTGAGGCAGGCAGCCCAGGACTATTCCCAGGAAAACACAATGTATCCACAGTTCTTAGTGATCAGACATTGATTACTATCAGTTTATTCCAGATAGATCTGTAGAGAAACCTCTCATTTTGTAATACTATAAGATAAAATGAAAATCACCTTGACAGATGGGTGTTTTATGTCATTGCAGTTGTGTTACAGGTGCTCAGTTTGGTATATATAAGACTTAACAGGGAGGGACAGCACTTTATCGAATAACCTCATCTGATGTGACGTCAGTGTTAATAGTTAAAGCACAATCTTTGAGGCAATTTAGTGAGTATTCAGCCTTTTTAGAGGGTCAACAGTGATAGCGACCTATGTATTCTATGCTGTTTCCCCACTCACAAGCCTCCTTATCATCTCTTCTTGTAGCTGAGCTTTATTTTGAAGTTTTCCAAACCTTCAGTCTCACACAAGAGTTGTCACTTACCAATTTGATAAACACAGTTAAGTCCTCCAATACTTTTACCAAAGCATGATTTTCAGACATTTGTTGTATTTGCCTAAAGGGTAAAAAAAAAAAAGGCTATCAATGAAAATTGTGACAGAAAATTACCAGTGAAATCTAAAGTTCAGCAGTGCAGATACATTTCAAAGCCTACACAGAGGGCTGCCAACTACAGCATTGTCACAAACCAGAGATCCCAGTAGGTGGAGCTTAGACATAGGAAGTTGTGAGGTAGGGCTCTCGGGAAGTAAAAAGTGCTTTCTTTTATAAATGAAGATAAAATTGCTGAAATATTCTCACTGCTGTTTGTCCATTTGGTCCTTATGTTTTCAGATCTGACTTTTAGAGAAACAAGGCATTTTGGTAGCACTGCTTACCTTATATCACTTACCGACATATGCTGTACCTGTTTAATTCAGCAGAAGAGCAACTTAGATATTCTTAACTGATTGAAAACTGCTGTTATTACAAAATGCTGATCTCCAAACTTTAACTGAACTCTGCATTTGATGTAATAATGTTATAGAACATTTGAGAGTGCATGTGTTTGTTACTCTCAGTTTATTGGTATATATAATTTAAAATGAAACTGTTTTCTCTTTCAGTGCATTTGAAACGCCACTTTATGTTTCGAAACCATCTCTGTTTAGTTTTTGAAATGCTGTCCTACAACCTCTATGACTTGCTGAGAAACACCAATTTCCGAGGGGTCTCTTTGAACCTAACACGAAAGTTTGCGCAACAGATGTGCACTGCACTGCTTTTCCTTGCGACTCCAGAACTTAGTATCATTCACTGTGATCTAAAACCTGAAAATATCCTTCTTTGTAACCCCAAACGCAGTGCAATCAAGATAGTTGACTTTGGCAGTTCTTGTCAGTTGGGGCAGAGGGTATTATTTCAGAACTTGTGAATTAAATAGAAATTAAATAGAAGTAGGTAGGACAGTGTAGGTATTAGGTTGGCGCAAAAGTAATTGCGGTTTTCGCCATTGCAGTTGCTGTTTTTGCAGTGGCAAAAACCGCAATTACTTTTGCGCCAACCTAATAGATATTTGAAATGTTAATAAGGTGTATACCATTTAGAGGCAATTACAGGATGCTTATTTATCTTTAAAATGTAGCACTTAATTACCTTGTGTTGATATCTATTTTGGGGAAATACCTTTTAAAATGCAAATAGCAATACTTTGAGTCAAAAGACATTGATTTTTTTGAAATGGGTATATTTAAAATTGTATGTATGCTAAAAGATTAAGGGAGAGAATAGGAGATGGAATGATTAAATATTAGGGGATTTGTAACTATATTTCCCAAGTAAAGGTTTTAGTATAAATTTTGGGACTTTCCAGTACTAGAACATTGAATCTTTGCTGTAAAATACTTCTCTGAAGATGGATCAAGATAAATCTTTTTTCTCAAAAACTGATGGTTCAAAAAAATGCAGGTAATTTTGCATTAGTCATGGTATAAGTATAGAAAATTCAGTTGATAGACTTACTTGTTTTGATAAATAAGTTTGTCTTATTTTCCCCACTCTTATTTAAAATTTACATAAATTCTGACACATATCCAAGCTGGTTTTTTTCAGACTGCTAAAAACAGATGTGTTCGTAGTGCTGATAAGTTTAGCTGATTTAGGAAAGCAGTTTTTTCCTGTCATTCTTCCAGCATTATGAAAACTACTCTAACAGCATTGTTTTATGTATAAAATAGAAGTGATAGGGGTCTCCTCTTGAAAGGAATTAGTGTCACCATTTGATAATATTTTACTCATTTTAAGCACTATTCTTTTTGCTTTAAGTATTGAAACTATATTTCTTCTGTTTTAAAGAAACCCGGCTAACATACAGATGTTAATTTTTCTTACTGACTTTTCTGTTTCTTATTTTTCCAAATTAGTGAAATTTTCTGTCCCGTCCTACTTTTGTCCAGGTTTTAACTATAACAGATTAATTTAATCATAAGGATTTATAGCCAATTAATAGGACTGTCTTTTTGTTATTTTCTGCAACTTCTCATGGTAGTGAGGCTATCAAATGTTAAAGTAATTTTTAAAAATTGGAGTAGGGAGCAAAGTTTGCAGTTTTAGATGCCTTCAAAAAATCAAGAGATGCTCGTAGTTAATATGTGGTAGAGTATATTGTGAATGAAAAATACATGCCCATCTTGACAGTAATTTGAATAGATTATAGAGTTGGGAAAATTTCCCCCTATTTAAGCCAAATTATGTATTTTGTCCTAATATTAAACATTATTATTTCTGTCTAGCCAAAATGAGCCAGTTATCCCTACAATAAGTTTTTAACTATTCAAGTTCATTGGCATCACATGGGAAGTTATTTCTAAAATAGACCTGCAGTGGTCCTGCCCCTAGATCTGTTGGATTAGAATCAGAAGGTGGTAGGGCAAGTGTGTTTTGGGGAAAGCAACTGCTTTAAACAAATTAGATAGGGAGGTGACAAAGTTCTTGGCATAAGCTGTGAAATAAAAGTCTCAGGAGTGGTGAGTGTTTGGGCCTAGGGAGTTAACAATGGTATTGGCTTATAAAAACCATGGAAATGTAATACTTCTTCCCAGTTCTTTTAAATTAGACTTTCTTCTCATAGTTCCTTAAGGTTGGTTGACCTACCTGTGGAGGCCTGAGATTGTTCTCGAAGACTTGGCTGGAGGTTTCAGTGGGAACCACAGAAAATTTCATGAGCTTTCTGGCTGCATGGTTTGGGTGTTAGGAAATTTAGTTAGGATTTTATTTCTTTTCCACTTTTAATAAGTGAAACAAATTGGTCTCTGAAGACATCCTAACATTACTTCATTGAAAATAGTCCATTTCAGGATTGTCTTTCTATAAGAAGTCTTGGATGGAGGTAGAGAGAGAAGATGAGAGAAGAAGCTATTGGTCAGAGACAGCTCTCAATTGAATCTTTATGTGGCAGNNNN
|
pathogenic
| 318,939 |
Considering the variant on chromosome 21, location 37493113, involving gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['DYRK1A-related_intellectual_disability_syndrome']
|
TAGACTTACTTGTTTTGATAAATAAGTTTGTCTTATTTTCCCCACTCTTATTTAAAATTTACATAAATTCTGACACATATCCAAGCTGGTTTTTTTCAGACTGCTAAAAACAGATGTGTTCGTAGTGCTGATAAGTTTAGCTGATTTAGGAAAGCAGTTTTTTCCTGTCATTCTTCCAGCATTATGAAAACTACTCTAACAGCATTGTTTTATGTATAAAATAGAAGTGATAGGGGTCTCCTCTTGAAAGGAATTAGTGTCACCATTTGATAATATTTTACTCATTTTAAGCACTATTCTTTTTGCTTTAAGTATTGAAACTATATTTCTTCTGTTTTAAAGAAACCCGGCTAACATACAGATGTTAATTTTTCTTACTGACTTTTCTGTTTCTTATTTTTCCAAATTAGTGAAATTTTCTGTCCCGTCCTACTTTTGTCCAGGTTTTAACTATAACAGATTAATTTAATCATAAGGATTTATAGCCAATTAATAGGACTGTCTTTTTGTTATTTTCTGCAACTTCTCATGGTAGTGAGGCTATCAAATGTTAAAGTAATTTTTAAAAATTGGAGTAGGGAGCAAAGTTTGCAGTTTTAGATGCCTTCAAAAAATCAAGAGATGCTCGTAGTTAATATGTGGTAGAGTATATTGTGAATGAAAAATACATGCCCATCTTGACAGTAATTTGAATAGATTATAGAGTTGGGAAAATTTCCCCCTATTTAAGCCAAATTATGTATTTTGTCCTAATATTAAACATTATTATTTCTGTCTAGCCAAAATGAGCCAGTTATCCCTACAATAAGTTTTTAACTATTCAAGTTCATTGGCATCACATGGGAAGTTATTTCTAAAATAGACCTGCAGTGGTCCTGCCCCTAGATCTGTTGGATTAGAATCAGAAGGTGGTAGGGCAAGTGTGTTTTGGGGAAAGCAACTGCTTTAAACAAATTAGATAGGGAGGTGACAAAGTTCTTGGCATAAGCTGTGAAATAAAAGTCTCAGGAGTGGTGAGTGTTTGGGCCTAGGGAGTTAACAATGGTATTGGCTTATAAAAACCATGGAAATGTAATACTTCTTCCCAGTTCTTTTAAATTAGACTTTCTTCTCATAGTTCCTTAAGGTTGGTTGACCTACCTGTGGAGGCCTGAGATTGTTCTCGAAGACTTGGCTGGAGGTTTCAGTGGGAACCACAGAAAATTTCATGAGCTTTCTGGCTGCATGGTTTGGGTGTTAGGAAATTTAGTTAGGATTTTATTTCTTTTCCACTTTTAATAAGTGAAACAAATTGGTCTCTGAAGACATCCTAACATTACTTCATTGAAAATAGTCCATTTCAGGATTGTCTTTCTATAAGAAGTCTTGGATGGAGGTAGAGAGAGAAGATGAGAGAAGAAGCTATTGGTCAGAGACAGCTCTCAATTGAATCTTTATGTGGCAGTGTTTCTGGGATTTATCTGTGAGACAGCAAGAGTACAAATATCTGAATTTTAAATTATATTATATTGAAGTTACTTGACTTTTAACGCTGAGAAATACATTGTTTGGGTTAATTTAAATACTATTTAGTTGTAAAGTTAGTGGTAAACTAAGTGCCAGCCATAGTAGGAAGAAATAATTATTAGGGAAATACATTGCTTTCAATAGTGTTTTTTTTTTCCTAGTGAGGCATAATTGTTTTAAGAAATATCATGATGACTAGGTAGGATTAGACTAAATGAAAGGGCTTGAATCTTTACGTATTATGCATTTCACAGTCAGATTAACCAATCCCTCAAAATGTTTAGTTCTTTAAGCCGTATTCGTAGTCTAATGTTGAAGTTAATCAATGGAACCCTAATTCAGGAATTAGCCAATTCTTTTCTGTTAATATCAGATCAATGTTTTTAATCCAATGCTGACTGCAGTTTTAAGCAATTGAAGTAATACTATTTTGAAATATATTTCAGATATACCAGTATATTCAGAGTCGCTTTTATCGGTCTCCAGAGGTGCTACTGGGAATGCCTTATGACCTTGCCATTGATATGTGGTCCCTCGGGTGTATTTTGGTTGAAATGCACACTGGAGAACCTCTGTTCAGTGGTGCCAATGAGGTAAATGATGTATTGCTTTACAAATTCTGTTTTCATAATTTCTTTTTGTCTTTCATCTGTGACAGTGTAATTTAAAAGTTGTTTTTAGGCAAAGATGTCTACTTAATCATTCAAATGTGAGGTCAGTTTGAATATACCTATTTTTCATATTTGTCAGTTGTCATGTAAGTTTAGAATTATGAGATAGGAGTAGGATATTTTAATCTACTCATGAAGGAGAACAGTTAGAAAGTGTTAAGTATTTTGGCATACATTTTACAGGTTTTAAATACAATACAGAAAGCTTAAAGATGATAAAGAATGAAGGCCATCCTGAAGAGTGATACAAACATCACTCTAAATTTTGAGATTATGATTTGGAGTTGAAGAGTAATGATCAGTAGGACTGATGGATACTCAGTCTGAATAATGTAGAGTAAACGAGATTATAGACTTGTAGGGCTACAGAGACTGTGTGCAGTTCTGAAGTCTACAGGTTTTCAGTCTGTGTTCTGGAAGATTTTTCAAGGTCAGAGGCAGTGAATGGGAGGGCAGGGACAGGCCTTAACTTCCCTGCAGTCAGAGAAATTAGACTTTCATTGTTTTAAAAACTACACCTGTGGGGTTTTGTTTGTTTTTTAAAAGAAAAATTGACAATTTGCACGTCTTGATCAGTCTATTTATAAATGAGAAGAGAAAGGCCAAAGGCATTAATGACTTGTACCGGATTACACAGCTGTTAATAGGTGGTGTCAGAAACTTGTTTCTTCCATCCTTCCTTTTAATTCTTCTTTTTTTTTTTTTTTTTTTTTCCCGGAGATGGAGTCTTGCTCTGTCACTCAGGCTGGAGTATAGTGGGGCAATCTTGGCTCCCGAGTAGCTGGAATTACAGGCAAGCGCCACTATGCCTGGCTAATATTTGGATTTTTACTAGAGTTGATGTTTCACCATGTTGGCCAGGCTGCTCTCGAACTCCTGACCTCAAGTGGTCTGCCCGTCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGTGCCCAGCCCCTTTTAATTCATTTCAACTTGAACTGGTGAGCTACTCTTTTATAGTAACTGTCATAGTTTGTTTTTTTTTTTAGTATAAATCTTACTGTGTAAATTAGTATCTTTCTTGGGCTTAAACAATATTAAAAAAACTTTGCCATGTTACTCATTGTAAAGGCCGAGGTCCTTTGAGTAACCCACAGATTCCTACTTCCTCTGATGCCAGTTCTCTCACCACCACCTGGTCTCTCCTTCTCCCCTCACTCTGTGGTCCCTTGAAAACGCCAGCTACAGGCCCATAGCCCTTTGTATTTCTTCCTTCCTGTGCCTAAAATGCTCTTTTCTGAGATACTCCTTTGCTGATGTTAGTGTTTGCTCTGATGTCACATTCTCGGTGAAACCATATACCCCACTTACGGTTGCAGTACCCCTTCTCCTCATCCCATAGTTCTTAGCCAGCATCTGACATCATGTATTTAATTATTTATTGATAATGCCGGGCGCAGTGGCTCACACCTGTAGTCGCAGCACTTTGGGAGGCTGAAGCAGGCAGATCACTTGAGGTCAGGAGTTCGAGACTGGCCCTGCCAATATGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTAGCCTAGTGTGGTGTTGCGTGCCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCCCTCTAGCTTGGGAGACAGAACAAGACTCCATTAAAAAAAAAAAAAAATTGTGTGTTTGTGTGTATATGTATTTGCTGTCTTCCCACTATAACATAAACTTCTTTTTGGCAGGAATTTTTATGTTTTGTTTATTATTTTCTACCACTGAATATGGTTCCTAGCATATAATAGGCACACTCATTTAAAGTACTTAAAAAAGTACTTTATTAGGTCCATACTTTATTAAGCCTCTGGGATTTTGTGTGTG
|
TAGACTTACTTGTTTTGATAAATAAGTTTGTCTTATTTTCCCCACTCTTATTTAAAATTTACATAAATTCTGACACATATCCAAGCTGGTTTTTTTCAGACTGCTAAAAACAGATGTGTTCGTAGTGCTGATAAGTTTAGCTGATTTAGGAAAGCAGTTTTTTCCTGTCATTCTTCCAGCATTATGAAAACTACTCTAACAGCATTGTTTTATGTATAAAATAGAAGTGATAGGGGTCTCCTCTTGAAAGGAATTAGTGTCACCATTTGATAATATTTTACTCATTTTAAGCACTATTCTTTTTGCTTTAAGTATTGAAACTATATTTCTTCTGTTTTAAAGAAACCCGGCTAACATACAGATGTTAATTTTTCTTACTGACTTTTCTGTTTCTTATTTTTCCAAATTAGTGAAATTTTCTGTCCCGTCCTACTTTTGTCCAGGTTTTAACTATAACAGATTAATTTAATCATAAGGATTTATAGCCAATTAATAGGACTGTCTTTTTGTTATTTTCTGCAACTTCTCATGGTAGTGAGGCTATCAAATGTTAAAGTAATTTTTAAAAATTGGAGTAGGGAGCAAAGTTTGCAGTTTTAGATGCCTTCAAAAAATCAAGAGATGCTCGTAGTTAATATGTGGTAGAGTATATTGTGAATGAAAAATACATGCCCATCTTGACAGTAATTTGAATAGATTATAGAGTTGGGAAAATTTCCCCCTATTTAAGCCAAATTATGTATTTTGTCCTAATATTAAACATTATTATTTCTGTCTAGCCAAAATGAGCCAGTTATCCCTACAATAAGTTTTTAACTATTCAAGTTCATTGGCATCACATGGGAAGTTATTTCTAAAATAGACCTGCAGTGGTCCTGCCCCTAGATCTGTTGGATTAGAATCAGAAGGTGGTAGGGCAAGTGTGTTTTGGGGAAAGCAACTGCTTTAAACAAATTAGATAGGGAGGTGACAAAGTTCTTGGCATAAGCTGTGAAATAAAAGTCTCAGGAGTGGTGAGTGTTTGGGCCTAGGGAGTTAACAATGGTATTGGCTTATAAAAACCATGGAAATGTAATACTTCTTCCCAGTTCTTTTAAATTAGACTTTCTTCTCATAGTTCCTTAAGGTTGGTTGACCTACCTGTGGAGGCCTGAGATTGTTCTCGAAGACTTGGCTGGAGGTTTCAGTGGGAACCACAGAAAATTTCATGAGCTTTCTGGCTGCATGGTTTGGGTGTTAGGAAATTTAGTTAGGATTTTATTTCTTTTCCACTTTTAATAAGTGAAACAAATTGGTCTCTGAAGACATCCTAACATTACTTCATTGAAAATAGTCCATTTCAGGATTGTCTTTCTATAAGAAGTCTTGGATGGAGGTAGAGAGAGAAGATGAGAGAAGAAGCTATTGGTCAGAGACAGCTCTCAATTGAATCTTTATGTGGCAGTGTTTCTGGGATTTATCTGTGAGACAGCAAGAGTACAAATATCTGAATTTTAAATTATATTATATTGAAGTTACTTGACTTTTAACGCTGAGAAATACATTGTTTGGGTTAATTTAAATACTATTTAGTTGTAAAGTTAGTGGTAAACTAAGTGCCAGCCATAGTAGGAAGAAATAATTATTAGGGAAATACATTGCTTTCAATAGTGTTTTTTTTTTCCTAGTGAGGCATAATTGTTTTAAGAAATATCATGATGACTAGGTAGGATTAGACTAAATGAAAGGGCTTGAATCTTTACGTATTATGCATTTCACAGTCAGATTAACCAATCCCTCAAAATGTTTAGTTCTTTAAGCCGTATTCGTAGTCTAATGTTGAAGTTAATCAATGGAACCCTAATTCAGGAATTAGCCAATTCTTTTCTGTTAATATCAGATCAATGTTTTTAATCCAATGCTGACTGCAGTTTTAAGCAATTGAAGTAATACTATTTTGAAATATATTTCAGATATACCAGTATATTCAGAGTCGCTTTTATCGGTCTCCAGAGGTGCTACTGGGAATGCCTTATGACCTTGCCATTGATATGTGGTCCCTCGGGTGTATTTGGTTGAAATGCACACTGGAGAACCTCTGTTCAGTGGTGCCAATGAGGTAAATGATGTATTGCTTTACAAATTCTGTTTTCATAATTTCTTTTTGTCTTTCATCTGTGACAGTGTAATTTAAAAGTTGTTTTTAGGCAAAGATGTCTACTTAATCATTCAAATGTGAGGTCAGTTTGAATATACCTATTTTTCATATTTGTCAGTTGTCATGTAAGTTTAGAATTATGAGATAGGAGTAGGATATTTTAATCTACTCATGAAGGAGAACAGTTAGAAAGTGTTAAGTATTTTGGCATACATTTTACAGGTTTTAAATACAATACAGAAAGCTTAAAGATGATAAAGAATGAAGGCCATCCTGAAGAGTGATACAAACATCACTCTAAATTTTGAGATTATGATTTGGAGTTGAAGAGTAATGATCAGTAGGACTGATGGATACTCAGTCTGAATAATGTAGAGTAAACGAGATTATAGACTTGTAGGGCTACAGAGACTGTGTGCAGTTCTGAAGTCTACAGGTTTTCAGTCTGTGTTCTGGAAGATTTTTCAAGGTCAGAGGCAGTGAATGGGAGGGCAGGGACAGGCCTTAACTTCCCTGCAGTCAGAGAAATTAGACTTTCATTGTTTTAAAAACTACACCTGTGGGGTTTTGTTTGTTTTTTAAAAGAAAAATTGACAATTTGCACGTCTTGATCAGTCTATTTATAAATGAGAAGAGAAAGGCCAAAGGCATTAATGACTTGTACCGGATTACACAGCTGTTAATAGGTGGTGTCAGAAACTTGTTTCTTCCATCCTTCCTTTTAATTCTTCTTTTTTTTTTTTTTTTTTTTTCCCGGAGATGGAGTCTTGCTCTGTCACTCAGGCTGGAGTATAGTGGGGCAATCTTGGCTCCCGAGTAGCTGGAATTACAGGCAAGCGCCACTATGCCTGGCTAATATTTGGATTTTTACTAGAGTTGATGTTTCACCATGTTGGCCAGGCTGCTCTCGAACTCCTGACCTCAAGTGGTCTGCCCGTCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGTGCCCAGCCCCTTTTAATTCATTTCAACTTGAACTGGTGAGCTACTCTTTTATAGTAACTGTCATAGTTTGTTTTTTTTTTTAGTATAAATCTTACTGTGTAAATTAGTATCTTTCTTGGGCTTAAACAATATTAAAAAAACTTTGCCATGTTACTCATTGTAAAGGCCGAGGTCCTTTGAGTAACCCACAGATTCCTACTTCCTCTGATGCCAGTTCTCTCACCACCACCTGGTCTCTCCTTCTCCCCTCACTCTGTGGTCCCTTGAAAACGCCAGCTACAGGCCCATAGCCCTTTGTATTTCTTCCTTCCTGTGCCTAAAATGCTCTTTTCTGAGATACTCCTTTGCTGATGTTAGTGTTTGCTCTGATGTCACATTCTCGGTGAAACCATATACCCCACTTACGGTTGCAGTACCCCTTCTCCTCATCCCATAGTTCTTAGCCAGCATCTGACATCATGTATTTAATTATTTATTGATAATGCCGGGCGCAGTGGCTCACACCTGTAGTCGCAGCACTTTGGGAGGCTGAAGCAGGCAGATCACTTGAGGTCAGGAGTTCGAGACTGGCCCTGCCAATATGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTAGCCTAGTGTGGTGTTGCGTGCCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCCCTCTAGCTTGGGAGACAGAACAAGACTCCATTAAAAAAAAAAAAAAATTGTGTGTTTGTGTGTATATGTATTTGCTGTCTTCCCACTATAACATAAACTTCTTTTTGGCAGGAATTTTTATGTTTTGTTTATTATTTTCTACCACTGAATATGGTTCCTAGCATATAATAGGCACACTCATTTAAAGTACTTAAAAAAGTACTTTATTAGGTCCATACTTTATTAAGCCTCTGGGATTTTGTGTGTGN
|
pathogenic
| 318,953 |
Gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A) variant at chromosome position 37496233 on chromosome 21: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['DYRK1A-related_intellectual_disability_syndrome']
|
CCCAGCCCCTTTTAATTCATTTCAACTTGAACTGGTGAGCTACTCTTTTATAGTAACTGTCATAGTTTGTTTTTTTTTTTAGTATAAATCTTACTGTGTAAATTAGTATCTTTCTTGGGCTTAAACAATATTAAAAAAACTTTGCCATGTTACTCATTGTAAAGGCCGAGGTCCTTTGAGTAACCCACAGATTCCTACTTCCTCTGATGCCAGTTCTCTCACCACCACCTGGTCTCTCCTTCTCCCCTCACTCTGTGGTCCCTTGAAAACGCCAGCTACAGGCCCATAGCCCTTTGTATTTCTTCCTTCCTGTGCCTAAAATGCTCTTTTCTGAGATACTCCTTTGCTGATGTTAGTGTTTGCTCTGATGTCACATTCTCGGTGAAACCATATACCCCACTTACGGTTGCAGTACCCCTTCTCCTCATCCCATAGTTCTTAGCCAGCATCTGACATCATGTATTTAATTATTTATTGATAATGCCGGGCGCAGTGGCTCACACCTGTAGTCGCAGCACTTTGGGAGGCTGAAGCAGGCAGATCACTTGAGGTCAGGAGTTCGAGACTGGCCCTGCCAATATGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTAGCCTAGTGTGGTGTTGCGTGCCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCCCTCTAGCTTGGGAGACAGAACAAGACTCCATTAAAAAAAAAAAAAAATTGTGTGTTTGTGTGTATATGTATTTGCTGTCTTCCCACTATAACATAAACTTCTTTTTGGCAGGAATTTTTATGTTTTGTTTATTATTTTCTACCACTGAATATGGTTCCTAGCATATAATAGGCACACTCATTTAAAGTACTTAAAAAAGTACTTTATTAGGTCCATACTTTATTAAGCCTCTGGGATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTTATTTAACATGCTCTGAAAACTGGGTTGGGTGCCGTACCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGAGGATTGCTTTATCCCAGGAGTTTGAGACTAGCATAGGCAACATGGTAAAACCCCATCTCCACAAAAACTTTTAAAAATTAGCTGGGCATGGGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGACAGATCATTTGAGGTCAAGAGTTTAAGACCAGTCTGACCAACATGGTGAAACCCTGTCTCTACTGAAAAATATGCCTGTAGTCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCCTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACCGCACTTCAGCTTGGGTGACAGAGCGAGACTCCATCTAAAAAACAAATAGCCGGGCATGGTGGTACATGCCTGTAGTCCCAGCTACTCAGGAAGCTGAGGTGAGAGGATCACTTGAGCCTGGGAGGAGGTCAAGGCTGCAGTGAGCTCTGAGTGCACCACTGTACTCCAGCCTGGGTGACAGAGACCCTGTCTCAAAAATAAGTAAATAAAAAAAATTTTTTTAATAAAATTCTCCCAAAACAGAAACTTTAAAACTTCCTCTCATCTTTCCTTACTGTTCAACATTGTATCCATGGCTACCTGACATAATATGTTTGTTAATTGACTGTCTTCCCTTCTGTGGGGTATTTGACTCAAGGAAGGTAGGGCCTTTCTTGTGTTTGTTCATTACTGTATGCTGGATGTCTAGAGGAGTGCCAGACACACAGGAGGTGTGCAATTTATTTATGAATGAATGACTTGATGAGCAGGAGTAGATGTACAGTAGAAATTACAGGTTTTGTTGTTTTTATTTTTAATACAGGTAGATCAGATGAATAAAATAGTGGAAGTTCTGGGTATTCCACCTGCTCATATTCTTGACCAAGCACCAAAAGCAAGAAAGTTCTTTGAGAAGTTGCCAGATGGCACTTGGAACTTAAAGAAGACCAAAGATGGAAAACGGGTAAAATAAGGATATATCTGTTTTGAGCCTTTATTAAATTTCTTTATCATACCTGTCTTTTTATAGCTCATTTTGCATTTACTTGAAATCAGTGTGTTTCAGTTAACGATTTTATTGATACCTTACATAGATATTTTGTTCAGAAGTTGAGTATAGTTTGACCTGAACTATCAGGTATGGACCAGTGTTTGATTAATGGTCAGAGTTATCTTTAAAACTTCATATTAAAAACTGTATGCCTGCATTTTGAGGCAGCTGATCACATCACCATACTTGGTTTCAACAGTAGAATTAATAAATTTGATCTTTGTTTCTCACAGCTTGGGCATGTAATGAGGTCACAGTTAATACTGCAGCTGTGAACAGAAGTCACAATTGGAGTAAATGATTTTTTTTTTTTAAGTTCAGTTGGTAAATTATGTCAGAAGATGATTTTTGGCTTAAGTAGTATGTGATTTTTTTCCAAGGATATTAACTGACTAGATGGTCCTTTGATAGACTTCAGATTCCTAGCTCATTGACTTGGATAGCAAAAATTTCACATCTCCAAAATCTTTTAAAGTGAGGTTTTTAAAACATTTGGTTTGTTTTAGTAATTTTCTTTTATCTGAGGACTTTTTAAAAGATACCTAAACTATGTCAGTTTAATAGAGTAAATGATGCCAATTTTGCATCTTGATTTTTTACTTTTGTTTTATAGATCTGTAAATAATCATGTTTTGTAATTTACTTTGGTCCTAGTATTGAATGAATGTAATGTATAAATATGTGATTGAATATGACCCCCACACACACATGTACATACAGAAGTCACCTTGAGATCATAGTTTTGCATTTTATAACATTTAAGAGTTTATTTTTGTTTCAGTTATTATTTTGCCTTGTATTTTAGCGGACGCTGCCACCAGGTGTCATTTTCAGTGAACTGAAGATGATGGTTGATCGCCTTAATTCACCTCCACACAGCTATGGAGTCATAACTTTTAATATCAGATGATTTTCTTTAGAATATTTAAAAGCACATACGTAGTTGTATCTTTCAAAACTGATTTGTAAGTTCTTGTGTTCTGCCATATTCACTAAAGCTATAGGCAGTGCAGTTTCCAGCTGCTAAATTATGCCTATTCCCCATAAGGAAAGGATGGAAAATGCCATCGAGACCTCCTGGGCTCTTGTTTTTTCTTTACCCACATAGCTCATTAATCGTGGCCCATTTTCCATGTAACCAAAAACTTAGTCTGGGAATCCTTACTAGCTTCACCAGCATTTAAAGGCGTTCCTACCAGTTTGAATTAGCATGGAGAGGAAATTAAATCTTTTTTATGTTGTCTCTCTCTGTGATACAGGCTGCTGCTTTCTCCATTTCAGATTGATTTATTTATATTTTGCTTCTGCTATTTTTTTTCCTCAATAAAACATCCCATTCCATCTCCTAAATCTCTGCCTTACAAAAACCACAGTGACCTATCATTTCTTTCAAATTGATCTATAGGTATTACTATTTTTAGTTATTTGGGGTGGGGGCATTTCAGAAATGAGTAGATTGTCTTTTCCCTTTTAAAATTGGAAGTGGATATCTTAACATACATTTAATACATGTGAATTAACTAGATTTTTATGAGATTTATTTTAGTCGCACTTAGCAATTGACTTAAGCAACTTAATTTTTAAAAATATGAAATAATTATTTTGCTTTTAAGAGATAAATTTTGTAACAAAAAGTCAAATTCATAATCAAATAATTACATTACAAATGGTACACTAAGAATTTTGACTAGAGATACAAATAGATGTGCATATACTTTCATTGGCTATCTCTTTGTGGTTTGTTTACTGATTTTATTTTTACTTTTAATTTTTCATTTTACATTTCAAAAGCCCCATATTAGGGTTTTCCAATAATGAAATAAATACTATATATTTTTTTCCTGGTGGAGGTGCAGAATGAAGAAGACAATAAATGATGCTTTTTTTGAAGTACAGTTTATATAAGATACATATTTTAAGTGTTGAGTTTGTTTT
|
CCCAGCCCCTTTTAATTCATTTCAACTTGAACTGGTGAGCTACTCTTTTATAGTAACTGTCATAGTTTGTTTTTTTTTTTAGTATAAATCTTACTGTGTAAATTAGTATCTTTCTTGGGCTTAAACAATATTAAAAAAACTTTGCCATGTTACTCATTGTAAAGGCCGAGGTCCTTTGAGTAACCCACAGATTCCTACTTCCTCTGATGCCAGTTCTCTCACCACCACCTGGTCTCTCCTTCTCCCCTCACTCTGTGGTCCCTTGAAAACGCCAGCTACAGGCCCATAGCCCTTTGTATTTCTTCCTTCCTGTGCCTAAAATGCTCTTTTCTGAGATACTCCTTTGCTGATGTTAGTGTTTGCTCTGATGTCACATTCTCGGTGAAACCATATACCCCACTTACGGTTGCAGTACCCCTTCTCCTCATCCCATAGTTCTTAGCCAGCATCTGACATCATGTATTTAATTATTTATTGATAATGCCGGGCGCAGTGGCTCACACCTGTAGTCGCAGCACTTTGGGAGGCTGAAGCAGGCAGATCACTTGAGGTCAGGAGTTCGAGACTGGCCCTGCCAATATGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTAGCCTAGTGTGGTGTTGCGTGCCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCACGCCACTGCCCTCTAGCTTGGGAGACAGAACAAGACTCCATTAAAAAAAAAAAAAAATTGTGTGTTTGTGTGTATATGTATTTGCTGTCTTCCCACTATAACATAAACTTCTTTTTGGCAGGAATTTTTATGTTTTGTTTATTATTTTCTACCACTGAATATGGTTCCTAGCATATAATAGGCACACTCATTTAAAGTACTTAAAAAAGTACTTTATTAGGTCCATACTTTATTAAGCCTCTGGGATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTTATTTAACATGCTCTGAAAACTGGGTTGGGTGCCGTACCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGAGGATTGCTTTATCCCAGGAGTTTGAGACTAGCATAGGCAACATGGTAAAACCCCATCTCCACAAAAACTTTTAAAAATTAGCTGGGCATGGGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGACAGATCATTTGAGGTCAAGAGTTTAAGACCAGTCTGACCAACATGGTGAAACCCTGTCTCTACTGAAAAATATGCCTGTAGTCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCCTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCGCCACCGCACTTCAGCTTGGGTGACAGAGCGAGACTCCATCTAAAAAACAAATAGCCGGGCATGGTGGTACATGCCTGTAGTCCCAGCTACTCAGGAAGCTGAGGTGAGAGGATCACTTGAGCCTGGGAGGAGGTCAAGGCTGCAGTGAGCTCTGAGTGCACCACTGTACTCCAGCCTGGGTGACAGAGACCCTGTCTCAAAAATAAGTAAATAAAAAAAATTTTTTTAATAAAATTCTCCCAAAACAGAAACTTTAAAACTTCCTCTCATCTTTCCTTACTGTTCAACATTGTATCCATGGCTACCTGACATAATATGTTTGTTAATTGACTGTCTTCCCTTCTGTGGGGTATTTGACTCAAGGAAGGTAGGGCCTTTCTTGTGTTTGTTCATTACTGTATGCTGGATGTCTAGAGGAGTGCCAGACACACAGGAGGTGTGCAATTTATTTATGAATGAATGACTTGATGAGCAGGAGTAGATGTACAGTAGAAATTACAGGTTTTGTTGTTTTTATTTTTAATACAGGTAGATCAGATGAATAAAATAGTGGAAGTTCTGGGTATTCCACCTGCTCATATTCTTGACCAAGCACCAAAAGCAAGAAAGTTCTTTGAGAAGTTGCCAGATGGCACTTGGAACTTAAGACCAAAGATGGAAAACGGGTAAAATAAGGATATATCTGTTTTGAGCCTTTATTAAATTTCTTTATCATACCTGTCTTTTTATAGCTCATTTTGCATTTACTTGAAATCAGTGTGTTTCAGTTAACGATTTTATTGATACCTTACATAGATATTTTGTTCAGAAGTTGAGTATAGTTTGACCTGAACTATCAGGTATGGACCAGTGTTTGATTAATGGTCAGAGTTATCTTTAAAACTTCATATTAAAAACTGTATGCCTGCATTTTGAGGCAGCTGATCACATCACCATACTTGGTTTCAACAGTAGAATTAATAAATTTGATCTTTGTTTCTCACAGCTTGGGCATGTAATGAGGTCACAGTTAATACTGCAGCTGTGAACAGAAGTCACAATTGGAGTAAATGATTTTTTTTTTTTAAGTTCAGTTGGTAAATTATGTCAGAAGATGATTTTTGGCTTAAGTAGTATGTGATTTTTTTCCAAGGATATTAACTGACTAGATGGTCCTTTGATAGACTTCAGATTCCTAGCTCATTGACTTGGATAGCAAAAATTTCACATCTCCAAAATCTTTTAAAGTGAGGTTTTTAAAACATTTGGTTTGTTTTAGTAATTTTCTTTTATCTGAGGACTTTTTAAAAGATACCTAAACTATGTCAGTTTAATAGAGTAAATGATGCCAATTTTGCATCTTGATTTTTTACTTTTGTTTTATAGATCTGTAAATAATCATGTTTTGTAATTTACTTTGGTCCTAGTATTGAATGAATGTAATGTATAAATATGTGATTGAATATGACCCCCACACACACATGTACATACAGAAGTCACCTTGAGATCATAGTTTTGCATTTTATAACATTTAAGAGTTTATTTTTGTTTCAGTTATTATTTTGCCTTGTATTTTAGCGGACGCTGCCACCAGGTGTCATTTTCAGTGAACTGAAGATGATGGTTGATCGCCTTAATTCACCTCCACACAGCTATGGAGTCATAACTTTTAATATCAGATGATTTTCTTTAGAATATTTAAAAGCACATACGTAGTTGTATCTTTCAAAACTGATTTGTAAGTTCTTGTGTTCTGCCATATTCACTAAAGCTATAGGCAGTGCAGTTTCCAGCTGCTAAATTATGCCTATTCCCCATAAGGAAAGGATGGAAAATGCCATCGAGACCTCCTGGGCTCTTGTTTTTTCTTTACCCACATAGCTCATTAATCGTGGCCCATTTTCCATGTAACCAAAAACTTAGTCTGGGAATCCTTACTAGCTTCACCAGCATTTAAAGGCGTTCCTACCAGTTTGAATTAGCATGGAGAGGAAATTAAATCTTTTTTATGTTGTCTCTCTCTGTGATACAGGCTGCTGCTTTCTCCATTTCAGATTGATTTATTTATATTTTGCTTCTGCTATTTTTTTTCCTCAATAAAACATCCCATTCCATCTCCTAAATCTCTGCCTTACAAAAACCACAGTGACCTATCATTTCTTTCAAATTGATCTATAGGTATTACTATTTTTAGTTATTTGGGGTGGGGGCATTTCAGAAATGAGTAGATTGTCTTTTCCCTTTTAAAATTGGAAGTGGATATCTTAACATACATTTAATACATGTGAATTAACTAGATTTTTATGAGATTTATTTTAGTCGCACTTAGCAATTGACTTAAGCAACTTAATTTTTAAAAATATGAAATAATTATTTTGCTTTTAAGAGATAAATTTTGTAACAAAAAGTCAAATTCATAATCAAATAATTACATTACAAATGGTACACTAAGAATTTTGACTAGAGATACAAATAGATGTGCATATACTTTCATTGGCTATCTCTTTGTGGTTTGTTTACTGATTTTATTTTTACTTTTAATTTTTCATTTTACATTTCAAAAGCCCCATATTAGGGTTTTCCAATAATGAAATAAATACTATATATTTTTTTCCTGGTGGAGGTGCAGAATGAAGAAGACAATAAATGATGCTTTTTTTGAAGTACAGTTTATATAAGATACATATTTTAAGTGTTGAGTTTGTTTTNNNN
|
pathogenic
| 318,962 |
A genetic variant on chromosome 21, position 37512066, affects the gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
benign
|
AGATTATCAGATCAAAAAACATAGTATATAGAGGGTTTAGTCCTCTGCAGTTTCAGGCATCCAGTGGGGATCTTGGACTGTATCTCTTGTGGATAAGGAGGCACCACTGTACATGTCTCATTCACACATAGACATTTTATCTGTGATATAAATTCCTGAAAGCAGAATGACTGTTTCAAAGGGTAATGTGATTTATAATTTTGATAACTATTGCCAGATTGCCCCCCATGTGATTTTCTAATCCAGTAACTTGATTAACTTCATATAAAAACCATATAGTATTTTCTGAGAACTCACTGCCAGCTTTTCTACTGATTGTTTTCAGTAGTATCTCTTAAAAGTTTGGTTCTCAGACCACCTTTGTTGAATAAACCCTTAACAATTTGTGCCAGCCACTGGATAGAGACTGAGCCTTTTGCCTTCCTAGAGCTTACAGTGACACAAGTAAATAAAATGAACATGAAGAAAAATGGCAAGTAGCATTAGCTGTTAAAAAGAAAATAAGGATAATTTGGTAGAGAAAGACTGTTTGTTGGATAGGATGTATTAATTAGAATAGGCCAAACTCTGATATAACAGACCCCCAAAATATGGTAGCTTAAAGAGTACCAAGTTTCCTTCATTTTTGTGCAACAGTCCAGAATAGGTGTTCAGGTTAGTGGCTAGGCCGTCTTCCAGGTCCTGATCTCCTACCATCTTGTGGTTCCACCTTGCCCTAGGGCCTACTTGTCTACTGTGTCCAGCAGGCAGAAGGACTTGGGAGGTATTATCTTGTGTGCCAGGCTAGCAGTGACACAAGCTTTCATTCACATTCCATTGACAGCTTAGACATATGGCCATCAGTAAGTACAAGGGAGGCTGGGAAGTGTTGTGTAGCCATGTGCTCAGGAACGAGAAGAATATTGTGCACAACCAGTAGCTTCTGCCACAGTTGTTGAGGCAGCATCAGCCAGAGTGGTCAGGGAAGGCTCTGGAACTGAAGCGATGAAAAAGAGACATCCAAGCAATAAGAAAATCCAAGAAATAACATTTCTAGGCAGAAGGGAGCAGCGTGTTACTAGTACACTGAGGCATTTGAGAGATTTTGACCCAGGGGAGGAATGGAAGGCAGGTCTTCTTTGTTTGGAACTCAGGTAGCCAGGGATAGGATGGGTGGAGAAAGAGGTTAGAGAAGTGGGCATTGGCCAGATGATGCAGATCGTTGTATCCATTTGGGTTTATTTTGTTTTTCTAAGTGCAGTGAGAAGTCATTAAAGGATTTTAAATAGGGAAGTGATTGGATTTGTGTTAAGAAAAGATTGTTCCTGCTACCCTTTGGAGAAGGGCAAGGATGGAAACAAGGAGTTCATTTAAGGGGCTGTTGTGTTAGCGTAGGCAAGAGATGATGGGGATGAAGAGAAGAGGCCAAATTTGGAATCTGTTTCACAGGTAGACTCATAAGTTCTTGCTCATGGGTTGGACAGAGGCATTGTTGAGCAGCTAGGTAGATAGTAGTCCTTTATTGAAAGAAGAAAGATGGAGAGAGGAAGGACATGAGGGAAAAGTAAAGACTTCCTTTTGGACCTGCCCAGAATACTGTCCAGCCCTTTTCAGGAAATATTTGCTGACCCCTGGCATAAACAGGGCTCCCAAGGAAGGACAGTGGCTAGTGAAATAGATGAACCTATTTAAGGATATAACTTCCTAAAAATTGCAGCTTTCATGATGAAATTTTTTGCCCTTGAATGTATTTGGGATTTTGTGTTATAAAACTGTCTTAACACATTAAAAGTTTCAAAAACCGTTTCCCCCTGATTAATATGATGCTAGTTTGTTAGTGTCATGGCTTTTGATGGAAGATTAAAGCTTGGAAACAGTCCTCTGAAAAATCCTTTTAAAAATCTGTTCTTTCAGGTGCGTCAGCAATTTCCTGCTCCTCTTGGTTGGTCAGGCACTGAAGCTCCTACACAGGTCACTGTTGAAACTCATCCTGTTCAAGAAACAACCTTTCATGTAGCCCCTCAACAGAATGCATTGCATCATCACCATGGTAACAGTTCCCATCACCATCACCACCACCACCACCATCACCACCACCATGGACAACAAGCCTTGGGTAACCGGACCAGGCCAAGGGTCTACAATTCTCCAACGAATAGCTCCTCTACCCAAGATTCTATGGAGGTTGGCCACAGTCACCACTCCATGACATCCCTGTCTTCCTCAACGACTTCTTCCTCGACATCTTCCTCCTCTACTGGTAACCAAGGCAATCAGGCCTACCAGAATCGCCCAGTGGCTGCTAATACCTTGGACTTTGGACAGAATGGAGCTATGGACGTTAATTTGACCGTCTACTCCAATCCCCGCCAAGAGACTGGCATAGCTGGACATCCAACATACCAATTTTCTGCTAATACAGGTCCTGCACATTACATGACTGAAGGACATCTGACAATGAGGCAAGGGGCTGATAGAGAAGAGTCCCCCATGACAGGAGTTTGTGTGCAACAGAGTCCTGTAGCTAGCTCGTGACTACATTGAAACTTGAGTTTGTTTCTTGTGTGTTTTTATAGAAGTGGTGTTTTTTTTCCAAAAACAAAGTGCAAAGCTGCTTGAATCAGGAGGAGATTAACACACTGAACCGCTACAAGAGGGCAAAGCTGATTTTTTTTTTAACTTGAAAAGATTGCAAAGGGACATTGAAGTGTTTAAAAGAGCCATGTCCAAACCCATCTTCATGGATAGCTCAGAGGTATCCTCTTTTTGCTCCCCCATTTTAACTTGCCACATCCCAGTCACAGTGGGGTTTTTTTGTCTTTCTATTCAGCAAAAGTTAATATTCAGATGTTGGTCTTGGTCATTTGCCAACTAATTTTAAAGTAAAAGGCACTGCACATAATTTGCATAAAGGGCCCCATGAGGGTGTTTTTTTTTTTTCTTTTTGTCCCCCCCATCCCCCTTTTTTTTTGTTTTGTTCTGTTTTGTTTTGGGTGGGAGGGTGGGAAATTTGGGTTTTTAAGTCCTCTAAACACACTTGGGCACGGAAATGCAGTACTGTAAGGAAGAGGGACCTCCAGCTTCCACAAACACCATCTTCAGCTGTATGAAAGGGACGGTTGTGGTGAAGTTTGTCAGGCACAGTAAGCATGCTGAGTGGCGGGGATCAGAACTCTCCTATCTGAACCTACTGAGGAGCAAAGCAGCAATTACATGGGATCCTGTGGCTCTCCCGTTGCAGAGGCCACAGGAAGATAGGATGGAACGTGACTGGTCTCCTAACCAAGGTGCACTGAGAAGCAATCAACGGGTCGGTCGTGGCCAGTCCTGGGGAGGTCTGAGTGGTGGTCTTTGGGATAACCTTTGGCCTTATGGATTTGGACTCGAAATTAGAAGAGCCTACCATTTCAGATGCAATCACTTTTGGACATGCTTTTGCAGACAGTCCTTAATGCTGAAAACACAGAGAATGGGTAATTCAAGAGGCCTTTCTTTTAAAATAGACTTTTGTGACCCACTAATTGTAAGGTATTGCAAGGTCACTTTGCGTGTGTCATAAAGTTGACTTCCTTATTGGTTGAAGGTCACAGAAGTAGTGGTTTGCTTTGATGGAAATAGCTACAGCTGTGTCCCTTCCTGCTTTTTACTTTTTCTTTTGCTTTTTCTCGGCACGTGGTATCTCCACCATTTCTTCTGCACAAAGATGTCTTCTGTTCATCCTGAACATTTTTAAAAAATGCAGAATTTTATGTGACTGCTTTTTTGCCTCACAATTATGCTGTGAATTTTACAAAAATTTATTTTCTTTTTTGATAATTTATTGTACCAAAGCTGTTTTTATAGCACATAGATGTCTGTAACCAATAATGTAGCAGTTCTGCACTTTGACACAAGGTGTAACTAGACCATTTTTAAATGTCAGTTGAAAATTATGGCTGTACTATTGCTTAAACAAAACTGGAACTGTTGTTGAATCCATAGCCAATACATTTACAGCAATCTGTGTACTGAACATAGTAGATTGACATCTAATTCAAGATTACAACATCTGTTACATTCTAAGTGTGTTCAGGCTTCTGAAGGTAAAGGGACACTGGATCCAGAAGCTATGGAACCA
|
AGATTATCAGATCAAAAAACATAGTATATAGAGGGTTTAGTCCTCTGCAGTTTCAGGCATCCAGTGGGGATCTTGGACTGTATCTCTTGTGGATAAGGAGGCACCACTGTACATGTCTCATTCACACATAGACATTTTATCTGTGATATAAATTCCTGAAAGCAGAATGACTGTTTCAAAGGGTAATGTGATTTATAATTTTGATAACTATTGCCAGATTGCCCCCCATGTGATTTTCTAATCCAGTAACTTGATTAACTTCATATAAAAACCATATAGTATTTTCTGAGAACTCACTGCCAGCTTTTCTACTGATTGTTTTCAGTAGTATCTCTTAAAAGTTTGGTTCTCAGACCACCTTTGTTGAATAAACCCTTAACAATTTGTGCCAGCCACTGGATAGAGACTGAGCCTTTTGCCTTCCTAGAGCTTACAGTGACACAAGTAAATAAAATGAACATGAAGAAAAATGGCAAGTAGCATTAGCTGTTAAAAAGAAAATAAGGATAATTTGGTAGAGAAAGACTGTTTGTTGGATAGGATGTATTAATTAGAATAGGCCAAACTCTGATATAACAGACCCCCAAAATATGGTAGCTTAAAGAGTACCAAGTTTCCTTCATTTTTGTGCAACAGTCCAGAATAGGTGTTCAGGTTAGTGGCTAGGCCGTCTTCCAGGTCCTGATCTCCTACCATCTTGTGGTTCCACCTTGCCCTAGGGCCTACTTGTCTACTGTGTCCAGCAGGCAGAAGGACTTGGGAGGTATTATCTTGTGTGCCAGGCTAGCAGTGACACAAGCTTTCATTCACATTCCATTGACAGCTTAGACATATGGCCATCAGTAAGTACAAGGGAGGCTGGGAAGTGTTGTGTAGCCATGTGCTCAGGAACGAGAAGAATATTGTGCACAACCAGTAGCTTCTGCCACAGTTGTTGAGGCAGCATCAGCCAGAGTGGTCAGGGAAGGCTCTGGAACTGAAGCGATGAAAAAGAGACATCCAAGCAATAAGAAAATCCAAGAAATAACATTTCTAGGCAGAAGGGAGCAGCGTGTTACTAGTACACTGAGGCATTTGAGAGATTTTGACCCAGGGGAGGAATGGAAGGCAGGTCTTCTTTGTTTGGAACTCAGGTAGCCAGGGATAGGATGGGTGGAGAAAGAGGTTAGAGAAGTGGGCATTGGCCAGATGATGCAGATCGTTGTATCCATTTGGGTTTATTTTGTTTTTCTAAGTGCAGTGAGAAGTCATTAAAGGATTTTAAATAGGGAAGTGATTGGATTTGTGTTAAGAAAAGATTGTTCCTGCTACCCTTTGGAGAAGGGCAAGGATGGAAACAAGGAGTTCATTTAAGGGGCTGTTGTGTTAGCGTAGGCAAGAGATGATGGGGATGAAGAGAAGAGGCCAAATTTGGAATCTGTTTCACAGGTAGACTCATAAGTTCTTGCTCATGGGTTGGACAGAGGCATTGTTGAGCAGCTAGGTAGATAGTAGTCCTTTATTGAAAGAAGAAAGATGGAGAGAGGAAGGACATGAGGGAAAAGTAAAGACTTCCTTTTGGACCTGCCCAGAATACTGTCCAGCCCTTTTCAGGAAATATTTGCTGACCCCTGGCATAAACAGGGCTCCCAAGGAAGGACAGTGGCTAGTGAAATAGATGAACCTATTTAAGGATATAACTTCCTAAAAATTGCAGCTTTCATGATGAAATTTTTTGCCCTTGAATGTATTTGGGATTTTGTGTTATAAAACTGTCTTAACACATTAAAAGTTTCAAAAACCGTTTCCCCCTGATTAATATGATGCTAGTTTGTTAGTGTCATGGCTTTTGATGGAAGATTAAAGCTTGGAAACAGTCCTCTGAAAAATCCTTTTAAAAATCTGTTCTTTCAGGTGCGTCAGCAATTTCCTGCTCCTCTTGGTTGGTCAGGCACTGAAGCTCCTACACAGGTCACTGTTGAAACTCATCCTGTTCAAGAAACAACCTTTCATGTAGCCCCTCAACAGAATGCATTGCATCATCACCATGGTAACAGTTCCCATCACCATCACCACCACCACCACCACCACCATCACCACCACCATGGACAACAAGCCTTGGGTAACCGGACCAGGCCAAGGGTCTACAATTCTCCAACGAATAGCTCCTCTACCCAAGATTCTATGGAGGTTGGCCACAGTCACCACTCCATGACATCCCTGTCTTCCTCAACGACTTCTTCCTCGACATCTTCCTCCTCTACTGGTAACCAAGGCAATCAGGCCTACCAGAATCGCCCAGTGGCTGCTAATACCTTGGACTTTGGACAGAATGGAGCTATGGACGTTAATTTGACCGTCTACTCCAATCCCCGCCAAGAGACTGGCATAGCTGGACATCCAACATACCAATTTTCTGCTAATACAGGTCCTGCACATTACATGACTGAAGGACATCTGACAATGAGGCAAGGGGCTGATAGAGAAGAGTCCCCCATGACAGGAGTTTGTGTGCAACAGAGTCCTGTAGCTAGCTCGTGACTACATTGAAACTTGAGTTTGTTTCTTGTGTGTTTTTATAGAAGTGGTGTTTTTTTTCCAAAAACAAAGTGCAAAGCTGCTTGAATCAGGAGGAGATTAACACACTGAACCGCTACAAGAGGGCAAAGCTGATTTTTTTTTTAACTTGAAAAGATTGCAAAGGGACATTGAAGTGTTTAAAAGAGCCATGTCCAAACCCATCTTCATGGATAGCTCAGAGGTATCCTCTTTTTGCTCCCCCATTTTAACTTGCCACATCCCAGTCACAGTGGGGTTTTTTTGTCTTTCTATTCAGCAAAAGTTAATATTCAGATGTTGGTCTTGGTCATTTGCCAACTAATTTTAAAGTAAAAGGCACTGCACATAATTTGCATAAAGGGCCCCATGAGGGTGTTTTTTTTTTTTCTTTTTGTCCCCCCCATCCCCCTTTTTTTTTGTTTTGTTCTGTTTTGTTTTGGGTGGGAGGGTGGGAAATTTGGGTTTTTAAGTCCTCTAAACACACTTGGGCACGGAAATGCAGTACTGTAAGGAAGAGGGACCTCCAGCTTCCACAAACACCATCTTCAGCTGTATGAAAGGGACGGTTGTGGTGAAGTTTGTCAGGCACAGTAAGCATGCTGAGTGGCGGGGATCAGAACTCTCCTATCTGAACCTACTGAGGAGCAAAGCAGCAATTACATGGGATCCTGTGGCTCTCCCGTTGCAGAGGCCACAGGAAGATAGGATGGAACGTGACTGGTCTCCTAACCAAGGTGCACTGAGAAGCAATCAACGGGTCGGTCGTGGCCAGTCCTGGGGAGGTCTGAGTGGTGGTCTTTGGGATAACCTTTGGCCTTATGGATTTGGACTCGAAATTAGAAGAGCCTACCATTTCAGATGCAATCACTTTTGGACATGCTTTTGCAGACAGTCCTTAATGCTGAAAACACAGAGAATGGGTAATTCAAGAGGCCTTTCTTTTAAAATAGACTTTTGTGACCCACTAATTGTAAGGTATTGCAAGGTCACTTTGCGTGTGTCATAAAGTTGACTTCCTTATTGGTTGAAGGTCACAGAAGTAGTGGTTTGCTTTGATGGAAATAGCTACAGCTGTGTCCCTTCCTGCTTTTTACTTTTTCTTTTGCTTTTTCTCGGCACGTGGTATCTCCACCATTTCTTCTGCACAAAGATGTCTTCTGTTCATCCTGAACATTTTTAAAAAATGCAGAATTTTATGTGACTGCTTTTTTGCCTCACAATTATGCTGTGAATTTTACAAAAATTTATTTTCTTTTTTGATAATTTATTGTACCAAAGCTGTTTTTATAGCACATAGATGTCTGTAACCAATAATGTAGCAGTTCTGCACTTTGACACAAGGTGTAACTAGACCATTTTTAAATGTCAGTTGAAAATTATGGCTGTACTATTGCTTAAACAAAACTGGAACTGTTGTTGAATCCATAGCCAATACATTTACAGCAATCTGTGTACTGAACATAGTAGATTGACATCTAATTCAAGATTACAACATCTGTTACATTCTAAGTGTGTTCAGGCTTCTGAAGGTAAAGGGACACTGGATCCAGAAGCTATG
|
benign
| 319,007 |
Located at chromosome 21 position 37512066, the variant affecting gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
benign
|
AGATTATCAGATCAAAAAACATAGTATATAGAGGGTTTAGTCCTCTGCAGTTTCAGGCATCCAGTGGGGATCTTGGACTGTATCTCTTGTGGATAAGGAGGCACCACTGTACATGTCTCATTCACACATAGACATTTTATCTGTGATATAAATTCCTGAAAGCAGAATGACTGTTTCAAAGGGTAATGTGATTTATAATTTTGATAACTATTGCCAGATTGCCCCCCATGTGATTTTCTAATCCAGTAACTTGATTAACTTCATATAAAAACCATATAGTATTTTCTGAGAACTCACTGCCAGCTTTTCTACTGATTGTTTTCAGTAGTATCTCTTAAAAGTTTGGTTCTCAGACCACCTTTGTTGAATAAACCCTTAACAATTTGTGCCAGCCACTGGATAGAGACTGAGCCTTTTGCCTTCCTAGAGCTTACAGTGACACAAGTAAATAAAATGAACATGAAGAAAAATGGCAAGTAGCATTAGCTGTTAAAAAGAAAATAAGGATAATTTGGTAGAGAAAGACTGTTTGTTGGATAGGATGTATTAATTAGAATAGGCCAAACTCTGATATAACAGACCCCCAAAATATGGTAGCTTAAAGAGTACCAAGTTTCCTTCATTTTTGTGCAACAGTCCAGAATAGGTGTTCAGGTTAGTGGCTAGGCCGTCTTCCAGGTCCTGATCTCCTACCATCTTGTGGTTCCACCTTGCCCTAGGGCCTACTTGTCTACTGTGTCCAGCAGGCAGAAGGACTTGGGAGGTATTATCTTGTGTGCCAGGCTAGCAGTGACACAAGCTTTCATTCACATTCCATTGACAGCTTAGACATATGGCCATCAGTAAGTACAAGGGAGGCTGGGAAGTGTTGTGTAGCCATGTGCTCAGGAACGAGAAGAATATTGTGCACAACCAGTAGCTTCTGCCACAGTTGTTGAGGCAGCATCAGCCAGAGTGGTCAGGGAAGGCTCTGGAACTGAAGCGATGAAAAAGAGACATCCAAGCAATAAGAAAATCCAAGAAATAACATTTCTAGGCAGAAGGGAGCAGCGTGTTACTAGTACACTGAGGCATTTGAGAGATTTTGACCCAGGGGAGGAATGGAAGGCAGGTCTTCTTTGTTTGGAACTCAGGTAGCCAGGGATAGGATGGGTGGAGAAAGAGGTTAGAGAAGTGGGCATTGGCCAGATGATGCAGATCGTTGTATCCATTTGGGTTTATTTTGTTTTTCTAAGTGCAGTGAGAAGTCATTAAAGGATTTTAAATAGGGAAGTGATTGGATTTGTGTTAAGAAAAGATTGTTCCTGCTACCCTTTGGAGAAGGGCAAGGATGGAAACAAGGAGTTCATTTAAGGGGCTGTTGTGTTAGCGTAGGCAAGAGATGATGGGGATGAAGAGAAGAGGCCAAATTTGGAATCTGTTTCACAGGTAGACTCATAAGTTCTTGCTCATGGGTTGGACAGAGGCATTGTTGAGCAGCTAGGTAGATAGTAGTCCTTTATTGAAAGAAGAAAGATGGAGAGAGGAAGGACATGAGGGAAAAGTAAAGACTTCCTTTTGGACCTGCCCAGAATACTGTCCAGCCCTTTTCAGGAAATATTTGCTGACCCCTGGCATAAACAGGGCTCCCAAGGAAGGACAGTGGCTAGTGAAATAGATGAACCTATTTAAGGATATAACTTCCTAAAAATTGCAGCTTTCATGATGAAATTTTTTGCCCTTGAATGTATTTGGGATTTTGTGTTATAAAACTGTCTTAACACATTAAAAGTTTCAAAAACCGTTTCCCCCTGATTAATATGATGCTAGTTTGTTAGTGTCATGGCTTTTGATGGAAGATTAAAGCTTGGAAACAGTCCTCTGAAAAATCCTTTTAAAAATCTGTTCTTTCAGGTGCGTCAGCAATTTCCTGCTCCTCTTGGTTGGTCAGGCACTGAAGCTCCTACACAGGTCACTGTTGAAACTCATCCTGTTCAAGAAACAACCTTTCATGTAGCCCCTCAACAGAATGCATTGCATCATCACCATGGTAACAGTTCCCATCACCATCACCACCACCACCACCATCACCACCACCATGGACAACAAGCCTTGGGTAACCGGACCAGGCCAAGGGTCTACAATTCTCCAACGAATAGCTCCTCTACCCAAGATTCTATGGAGGTTGGCCACAGTCACCACTCCATGACATCCCTGTCTTCCTCAACGACTTCTTCCTCGACATCTTCCTCCTCTACTGGTAACCAAGGCAATCAGGCCTACCAGAATCGCCCAGTGGCTGCTAATACCTTGGACTTTGGACAGAATGGAGCTATGGACGTTAATTTGACCGTCTACTCCAATCCCCGCCAAGAGACTGGCATAGCTGGACATCCAACATACCAATTTTCTGCTAATACAGGTCCTGCACATTACATGACTGAAGGACATCTGACAATGAGGCAAGGGGCTGATAGAGAAGAGTCCCCCATGACAGGAGTTTGTGTGCAACAGAGTCCTGTAGCTAGCTCGTGACTACATTGAAACTTGAGTTTGTTTCTTGTGTGTTTTTATAGAAGTGGTGTTTTTTTTCCAAAAACAAAGTGCAAAGCTGCTTGAATCAGGAGGAGATTAACACACTGAACCGCTACAAGAGGGCAAAGCTGATTTTTTTTTTAACTTGAAAAGATTGCAAAGGGACATTGAAGTGTTTAAAAGAGCCATGTCCAAACCCATCTTCATGGATAGCTCAGAGGTATCCTCTTTTTGCTCCCCCATTTTAACTTGCCACATCCCAGTCACAGTGGGGTTTTTTTGTCTTTCTATTCAGCAAAAGTTAATATTCAGATGTTGGTCTTGGTCATTTGCCAACTAATTTTAAAGTAAAAGGCACTGCACATAATTTGCATAAAGGGCCCCATGAGGGTGTTTTTTTTTTTTCTTTTTGTCCCCCCCATCCCCCTTTTTTTTTGTTTTGTTCTGTTTTGTTTTGGGTGGGAGGGTGGGAAATTTGGGTTTTTAAGTCCTCTAAACACACTTGGGCACGGAAATGCAGTACTGTAAGGAAGAGGGACCTCCAGCTTCCACAAACACCATCTTCAGCTGTATGAAAGGGACGGTTGTGGTGAAGTTTGTCAGGCACAGTAAGCATGCTGAGTGGCGGGGATCAGAACTCTCCTATCTGAACCTACTGAGGAGCAAAGCAGCAATTACATGGGATCCTGTGGCTCTCCCGTTGCAGAGGCCACAGGAAGATAGGATGGAACGTGACTGGTCTCCTAACCAAGGTGCACTGAGAAGCAATCAACGGGTCGGTCGTGGCCAGTCCTGGGGAGGTCTGAGTGGTGGTCTTTGGGATAACCTTTGGCCTTATGGATTTGGACTCGAAATTAGAAGAGCCTACCATTTCAGATGCAATCACTTTTGGACATGCTTTTGCAGACAGTCCTTAATGCTGAAAACACAGAGAATGGGTAATTCAAGAGGCCTTTCTTTTAAAATAGACTTTTGTGACCCACTAATTGTAAGGTATTGCAAGGTCACTTTGCGTGTGTCATAAAGTTGACTTCCTTATTGGTTGAAGGTCACAGAAGTAGTGGTTTGCTTTGATGGAAATAGCTACAGCTGTGTCCCTTCCTGCTTTTTACTTTTTCTTTTGCTTTTTCTCGGCACGTGGTATCTCCACCATTTCTTCTGCACAAAGATGTCTTCTGTTCATCCTGAACATTTTTAAAAAATGCAGAATTTTATGTGACTGCTTTTTTGCCTCACAATTATGCTGTGAATTTTACAAAAATTTATTTTCTTTTTTGATAATTTATTGTACCAAAGCTGTTTTTATAGCACATAGATGTCTGTAACCAATAATGTAGCAGTTCTGCACTTTGACACAAGGTGTAACTAGACCATTTTTAAATGTCAGTTGAAAATTATGGCTGTACTATTGCTTAAACAAAACTGGAACTGTTGTTGAATCCATAGCCAATACATTTACAGCAATCTGTGTACTGAACATAGTAGATTGACATCTAATTCAAGATTACAACATCTGTTACATTCTAAGTGTGTTCAGGCTTCTGAAGGTAAAGGGACACTGGATCCAGAAGCTATGGAACCA
|
AGATTATCAGATCAAAAAACATAGTATATAGAGGGTTTAGTCCTCTGCAGTTTCAGGCATCCAGTGGGGATCTTGGACTGTATCTCTTGTGGATAAGGAGGCACCACTGTACATGTCTCATTCACACATAGACATTTTATCTGTGATATAAATTCCTGAAAGCAGAATGACTGTTTCAAAGGGTAATGTGATTTATAATTTTGATAACTATTGCCAGATTGCCCCCCATGTGATTTTCTAATCCAGTAACTTGATTAACTTCATATAAAAACCATATAGTATTTTCTGAGAACTCACTGCCAGCTTTTCTACTGATTGTTTTCAGTAGTATCTCTTAAAAGTTTGGTTCTCAGACCACCTTTGTTGAATAAACCCTTAACAATTTGTGCCAGCCACTGGATAGAGACTGAGCCTTTTGCCTTCCTAGAGCTTACAGTGACACAAGTAAATAAAATGAACATGAAGAAAAATGGCAAGTAGCATTAGCTGTTAAAAAGAAAATAAGGATAATTTGGTAGAGAAAGACTGTTTGTTGGATAGGATGTATTAATTAGAATAGGCCAAACTCTGATATAACAGACCCCCAAAATATGGTAGCTTAAAGAGTACCAAGTTTCCTTCATTTTTGTGCAACAGTCCAGAATAGGTGTTCAGGTTAGTGGCTAGGCCGTCTTCCAGGTCCTGATCTCCTACCATCTTGTGGTTCCACCTTGCCCTAGGGCCTACTTGTCTACTGTGTCCAGCAGGCAGAAGGACTTGGGAGGTATTATCTTGTGTGCCAGGCTAGCAGTGACACAAGCTTTCATTCACATTCCATTGACAGCTTAGACATATGGCCATCAGTAAGTACAAGGGAGGCTGGGAAGTGTTGTGTAGCCATGTGCTCAGGAACGAGAAGAATATTGTGCACAACCAGTAGCTTCTGCCACAGTTGTTGAGGCAGCATCAGCCAGAGTGGTCAGGGAAGGCTCTGGAACTGAAGCGATGAAAAAGAGACATCCAAGCAATAAGAAAATCCAAGAAATAACATTTCTAGGCAGAAGGGAGCAGCGTGTTACTAGTACACTGAGGCATTTGAGAGATTTTGACCCAGGGGAGGAATGGAAGGCAGGTCTTCTTTGTTTGGAACTCAGGTAGCCAGGGATAGGATGGGTGGAGAAAGAGGTTAGAGAAGTGGGCATTGGCCAGATGATGCAGATCGTTGTATCCATTTGGGTTTATTTTGTTTTTCTAAGTGCAGTGAGAAGTCATTAAAGGATTTTAAATAGGGAAGTGATTGGATTTGTGTTAAGAAAAGATTGTTCCTGCTACCCTTTGGAGAAGGGCAAGGATGGAAACAAGGAGTTCATTTAAGGGGCTGTTGTGTTAGCGTAGGCAAGAGATGATGGGGATGAAGAGAAGAGGCCAAATTTGGAATCTGTTTCACAGGTAGACTCATAAGTTCTTGCTCATGGGTTGGACAGAGGCATTGTTGAGCAGCTAGGTAGATAGTAGTCCTTTATTGAAAGAAGAAAGATGGAGAGAGGAAGGACATGAGGGAAAAGTAAAGACTTCCTTTTGGACCTGCCCAGAATACTGTCCAGCCCTTTTCAGGAAATATTTGCTGACCCCTGGCATAAACAGGGCTCCCAAGGAAGGACAGTGGCTAGTGAAATAGATGAACCTATTTAAGGATATAACTTCCTAAAAATTGCAGCTTTCATGATGAAATTTTTTGCCCTTGAATGTATTTGGGATTTTGTGTTATAAAACTGTCTTAACACATTAAAAGTTTCAAAAACCGTTTCCCCCTGATTAATATGATGCTAGTTTGTTAGTGTCATGGCTTTTGATGGAAGATTAAAGCTTGGAAACAGTCCTCTGAAAAATCCTTTTAAAAATCTGTTCTTTCAGGTGCGTCAGCAATTTCCTGCTCCTCTTGGTTGGTCAGGCACTGAAGCTCCTACACAGGTCACTGTTGAAACTCATCCTGTTCAAGAAACAACCTTTCATGTAGCCCCTCAACAGAATGCATTGCATCATCACCATGGTAACAGTTCCCATCACCATCACCACCACCACCATCACCACCACCATGGACAACAAGCCTTGGGTAACCGGACCAGGCCAAGGGTCTACAATTCTCCAACGAATAGCTCCTCTACCCAAGATTCTATGGAGGTTGGCCACAGTCACCACTCCATGACATCCCTGTCTTCCTCAACGACTTCTTCCTCGACATCTTCCTCCTCTACTGGTAACCAAGGCAATCAGGCCTACCAGAATCGCCCAGTGGCTGCTAATACCTTGGACTTTGGACAGAATGGAGCTATGGACGTTAATTTGACCGTCTACTCCAATCCCCGCCAAGAGACTGGCATAGCTGGACATCCAACATACCAATTTTCTGCTAATACAGGTCCTGCACATTACATGACTGAAGGACATCTGACAATGAGGCAAGGGGCTGATAGAGAAGAGTCCCCCATGACAGGAGTTTGTGTGCAACAGAGTCCTGTAGCTAGCTCGTGACTACATTGAAACTTGAGTTTGTTTCTTGTGTGTTTTTATAGAAGTGGTGTTTTTTTTCCAAAAACAAAGTGCAAAGCTGCTTGAATCAGGAGGAGATTAACACACTGAACCGCTACAAGAGGGCAAAGCTGATTTTTTTTTTAACTTGAAAAGATTGCAAAGGGACATTGAAGTGTTTAAAAGAGCCATGTCCAAACCCATCTTCATGGATAGCTCAGAGGTATCCTCTTTTTGCTCCCCCATTTTAACTTGCCACATCCCAGTCACAGTGGGGTTTTTTTGTCTTTCTATTCAGCAAAAGTTAATATTCAGATGTTGGTCTTGGTCATTTGCCAACTAATTTTAAAGTAAAAGGCACTGCACATAATTTGCATAAAGGGCCCCATGAGGGTGTTTTTTTTTTTTCTTTTTGTCCCCCCCATCCCCCTTTTTTTTTGTTTTGTTCTGTTTTGTTTTGGGTGGGAGGGTGGGAAATTTGGGTTTTTAAGTCCTCTAAACACACTTGGGCACGGAAATGCAGTACTGTAAGGAAGAGGGACCTCCAGCTTCCACAAACACCATCTTCAGCTGTATGAAAGGGACGGTTGTGGTGAAGTTTGTCAGGCACAGTAAGCATGCTGAGTGGCGGGGATCAGAACTCTCCTATCTGAACCTACTGAGGAGCAAAGCAGCAATTACATGGGATCCTGTGGCTCTCCCGTTGCAGAGGCCACAGGAAGATAGGATGGAACGTGACTGGTCTCCTAACCAAGGTGCACTGAGAAGCAATCAACGGGTCGGTCGTGGCCAGTCCTGGGGAGGTCTGAGTGGTGGTCTTTGGGATAACCTTTGGCCTTATGGATTTGGACTCGAAATTAGAAGAGCCTACCATTTCAGATGCAATCACTTTTGGACATGCTTTTGCAGACAGTCCTTAATGCTGAAAACACAGAGAATGGGTAATTCAAGAGGCCTTTCTTTTAAAATAGACTTTTGTGACCCACTAATTGTAAGGTATTGCAAGGTCACTTTGCGTGTGTCATAAAGTTGACTTCCTTATTGGTTGAAGGTCACAGAAGTAGTGGTTTGCTTTGATGGAAATAGCTACAGCTGTGTCCCTTCCTGCTTTTTACTTTTTCTTTTGCTTTTTCTCGGCACGTGGTATCTCCACCATTTCTTCTGCACAAAGATGTCTTCTGTTCATCCTGAACATTTTTAAAAAATGCAGAATTTTATGTGACTGCTTTTTTGCCTCACAATTATGCTGTGAATTTTACAAAAATTTATTTTCTTTTTTGATAATTTATTGTACCAAAGCTGTTTTTATAGCACATAGATGTCTGTAACCAATAATGTAGCAGTTCTGCACTTTGACACAAGGTGTAACTAGACCATTTTTAAATGTCAGTTGAAAATTATGGCTGTACTATTGCTTAAACAAAACTGGAACTGTTGTTGAATCCATAGCCAATACATTTACAGCAATCTGTGTACTGAACATAGTAGATTGACATCTAATTCAAGATTACAACATCTGTTACATTCTAAGTGTGTTCAGGCTTCTGAAGGTAAAGGGACACTGGATCCAGAAGCTATGGAACCANNN
|
benign
| 319,008 |
Classify the chromosome 21 variant at position 37512072 affecting gene DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
benign
|
TCAGATCAAAAAACATAGTATATAGAGGGTTTAGTCCTCTGCAGTTTCAGGCATCCAGTGGGGATCTTGGACTGTATCTCTTGTGGATAAGGAGGCACCACTGTACATGTCTCATTCACACATAGACATTTTATCTGTGATATAAATTCCTGAAAGCAGAATGACTGTTTCAAAGGGTAATGTGATTTATAATTTTGATAACTATTGCCAGATTGCCCCCCATGTGATTTTCTAATCCAGTAACTTGATTAACTTCATATAAAAACCATATAGTATTTTCTGAGAACTCACTGCCAGCTTTTCTACTGATTGTTTTCAGTAGTATCTCTTAAAAGTTTGGTTCTCAGACCACCTTTGTTGAATAAACCCTTAACAATTTGTGCCAGCCACTGGATAGAGACTGAGCCTTTTGCCTTCCTAGAGCTTACAGTGACACAAGTAAATAAAATGAACATGAAGAAAAATGGCAAGTAGCATTAGCTGTTAAAAAGAAAATAAGGATAATTTGGTAGAGAAAGACTGTTTGTTGGATAGGATGTATTAATTAGAATAGGCCAAACTCTGATATAACAGACCCCCAAAATATGGTAGCTTAAAGAGTACCAAGTTTCCTTCATTTTTGTGCAACAGTCCAGAATAGGTGTTCAGGTTAGTGGCTAGGCCGTCTTCCAGGTCCTGATCTCCTACCATCTTGTGGTTCCACCTTGCCCTAGGGCCTACTTGTCTACTGTGTCCAGCAGGCAGAAGGACTTGGGAGGTATTATCTTGTGTGCCAGGCTAGCAGTGACACAAGCTTTCATTCACATTCCATTGACAGCTTAGACATATGGCCATCAGTAAGTACAAGGGAGGCTGGGAAGTGTTGTGTAGCCATGTGCTCAGGAACGAGAAGAATATTGTGCACAACCAGTAGCTTCTGCCACAGTTGTTGAGGCAGCATCAGCCAGAGTGGTCAGGGAAGGCTCTGGAACTGAAGCGATGAAAAAGAGACATCCAAGCAATAAGAAAATCCAAGAAATAACATTTCTAGGCAGAAGGGAGCAGCGTGTTACTAGTACACTGAGGCATTTGAGAGATTTTGACCCAGGGGAGGAATGGAAGGCAGGTCTTCTTTGTTTGGAACTCAGGTAGCCAGGGATAGGATGGGTGGAGAAAGAGGTTAGAGAAGTGGGCATTGGCCAGATGATGCAGATCGTTGTATCCATTTGGGTTTATTTTGTTTTTCTAAGTGCAGTGAGAAGTCATTAAAGGATTTTAAATAGGGAAGTGATTGGATTTGTGTTAAGAAAAGATTGTTCCTGCTACCCTTTGGAGAAGGGCAAGGATGGAAACAAGGAGTTCATTTAAGGGGCTGTTGTGTTAGCGTAGGCAAGAGATGATGGGGATGAAGAGAAGAGGCCAAATTTGGAATCTGTTTCACAGGTAGACTCATAAGTTCTTGCTCATGGGTTGGACAGAGGCATTGTTGAGCAGCTAGGTAGATAGTAGTCCTTTATTGAAAGAAGAAAGATGGAGAGAGGAAGGACATGAGGGAAAAGTAAAGACTTCCTTTTGGACCTGCCCAGAATACTGTCCAGCCCTTTTCAGGAAATATTTGCTGACCCCTGGCATAAACAGGGCTCCCAAGGAAGGACAGTGGCTAGTGAAATAGATGAACCTATTTAAGGATATAACTTCCTAAAAATTGCAGCTTTCATGATGAAATTTTTTGCCCTTGAATGTATTTGGGATTTTGTGTTATAAAACTGTCTTAACACATTAAAAGTTTCAAAAACCGTTTCCCCCTGATTAATATGATGCTAGTTTGTTAGTGTCATGGCTTTTGATGGAAGATTAAAGCTTGGAAACAGTCCTCTGAAAAATCCTTTTAAAAATCTGTTCTTTCAGGTGCGTCAGCAATTTCCTGCTCCTCTTGGTTGGTCAGGCACTGAAGCTCCTACACAGGTCACTGTTGAAACTCATCCTGTTCAAGAAACAACCTTTCATGTAGCCCCTCAACAGAATGCATTGCATCATCACCATGGTAACAGTTCCCATCACCATCACCACCACCACCACCATCACCACCACCATGGACAACAAGCCTTGGGTAACCGGACCAGGCCAAGGGTCTACAATTCTCCAACGAATAGCTCCTCTACCCAAGATTCTATGGAGGTTGGCCACAGTCACCACTCCATGACATCCCTGTCTTCCTCAACGACTTCTTCCTCGACATCTTCCTCCTCTACTGGTAACCAAGGCAATCAGGCCTACCAGAATCGCCCAGTGGCTGCTAATACCTTGGACTTTGGACAGAATGGAGCTATGGACGTTAATTTGACCGTCTACTCCAATCCCCGCCAAGAGACTGGCATAGCTGGACATCCAACATACCAATTTTCTGCTAATACAGGTCCTGCACATTACATGACTGAAGGACATCTGACAATGAGGCAAGGGGCTGATAGAGAAGAGTCCCCCATGACAGGAGTTTGTGTGCAACAGAGTCCTGTAGCTAGCTCGTGACTACATTGAAACTTGAGTTTGTTTCTTGTGTGTTTTTATAGAAGTGGTGTTTTTTTTCCAAAAACAAAGTGCAAAGCTGCTTGAATCAGGAGGAGATTAACACACTGAACCGCTACAAGAGGGCAAAGCTGATTTTTTTTTTAACTTGAAAAGATTGCAAAGGGACATTGAAGTGTTTAAAAGAGCCATGTCCAAACCCATCTTCATGGATAGCTCAGAGGTATCCTCTTTTTGCTCCCCCATTTTAACTTGCCACATCCCAGTCACAGTGGGGTTTTTTTGTCTTTCTATTCAGCAAAAGTTAATATTCAGATGTTGGTCTTGGTCATTTGCCAACTAATTTTAAAGTAAAAGGCACTGCACATAATTTGCATAAAGGGCCCCATGAGGGTGTTTTTTTTTTTTCTTTTTGTCCCCCCCATCCCCCTTTTTTTTTGTTTTGTTCTGTTTTGTTTTGGGTGGGAGGGTGGGAAATTTGGGTTTTTAAGTCCTCTAAACACACTTGGGCACGGAAATGCAGTACTGTAAGGAAGAGGGACCTCCAGCTTCCACAAACACCATCTTCAGCTGTATGAAAGGGACGGTTGTGGTGAAGTTTGTCAGGCACAGTAAGCATGCTGAGTGGCGGGGATCAGAACTCTCCTATCTGAACCTACTGAGGAGCAAAGCAGCAATTACATGGGATCCTGTGGCTCTCCCGTTGCAGAGGCCACAGGAAGATAGGATGGAACGTGACTGGTCTCCTAACCAAGGTGCACTGAGAAGCAATCAACGGGTCGGTCGTGGCCAGTCCTGGGGAGGTCTGAGTGGTGGTCTTTGGGATAACCTTTGGCCTTATGGATTTGGACTCGAAATTAGAAGAGCCTACCATTTCAGATGCAATCACTTTTGGACATGCTTTTGCAGACAGTCCTTAATGCTGAAAACACAGAGAATGGGTAATTCAAGAGGCCTTTCTTTTAAAATAGACTTTTGTGACCCACTAATTGTAAGGTATTGCAAGGTCACTTTGCGTGTGTCATAAAGTTGACTTCCTTATTGGTTGAAGGTCACAGAAGTAGTGGTTTGCTTTGATGGAAATAGCTACAGCTGTGTCCCTTCCTGCTTTTTACTTTTTCTTTTGCTTTTTCTCGGCACGTGGTATCTCCACCATTTCTTCTGCACAAAGATGTCTTCTGTTCATCCTGAACATTTTTAAAAAATGCAGAATTTTATGTGACTGCTTTTTTGCCTCACAATTATGCTGTGAATTTTACAAAAATTTATTTTCTTTTTTGATAATTTATTGTACCAAAGCTGTTTTTATAGCACATAGATGTCTGTAACCAATAATGTAGCAGTTCTGCACTTTGACACAAGGTGTAACTAGACCATTTTTAAATGTCAGTTGAAAATTATGGCTGTACTATTGCTTAAACAAAACTGGAACTGTTGTTGAATCCATAGCCAATACATTTACAGCAATCTGTGTACTGAACATAGTAGATTGACATCTAATTCAAGATTACAACATCTGTTACATTCTAAGTGTGTTCAGGCTTCTGAAGGTAAAGGGACACTGGATCCAGAAGCTATGGAACCAGCAGTT
|
TCAGATCAAAAAACATAGTATATAGAGGGTTTAGTCCTCTGCAGTTTCAGGCATCCAGTGGGGATCTTGGACTGTATCTCTTGTGGATAAGGAGGCACCACTGTACATGTCTCATTCACACATAGACATTTTATCTGTGATATAAATTCCTGAAAGCAGAATGACTGTTTCAAAGGGTAATGTGATTTATAATTTTGATAACTATTGCCAGATTGCCCCCCATGTGATTTTCTAATCCAGTAACTTGATTAACTTCATATAAAAACCATATAGTATTTTCTGAGAACTCACTGCCAGCTTTTCTACTGATTGTTTTCAGTAGTATCTCTTAAAAGTTTGGTTCTCAGACCACCTTTGTTGAATAAACCCTTAACAATTTGTGCCAGCCACTGGATAGAGACTGAGCCTTTTGCCTTCCTAGAGCTTACAGTGACACAAGTAAATAAAATGAACATGAAGAAAAATGGCAAGTAGCATTAGCTGTTAAAAAGAAAATAAGGATAATTTGGTAGAGAAAGACTGTTTGTTGGATAGGATGTATTAATTAGAATAGGCCAAACTCTGATATAACAGACCCCCAAAATATGGTAGCTTAAAGAGTACCAAGTTTCCTTCATTTTTGTGCAACAGTCCAGAATAGGTGTTCAGGTTAGTGGCTAGGCCGTCTTCCAGGTCCTGATCTCCTACCATCTTGTGGTTCCACCTTGCCCTAGGGCCTACTTGTCTACTGTGTCCAGCAGGCAGAAGGACTTGGGAGGTATTATCTTGTGTGCCAGGCTAGCAGTGACACAAGCTTTCATTCACATTCCATTGACAGCTTAGACATATGGCCATCAGTAAGTACAAGGGAGGCTGGGAAGTGTTGTGTAGCCATGTGCTCAGGAACGAGAAGAATATTGTGCACAACCAGTAGCTTCTGCCACAGTTGTTGAGGCAGCATCAGCCAGAGTGGTCAGGGAAGGCTCTGGAACTGAAGCGATGAAAAAGAGACATCCAAGCAATAAGAAAATCCAAGAAATAACATTTCTAGGCAGAAGGGAGCAGCGTGTTACTAGTACACTGAGGCATTTGAGAGATTTTGACCCAGGGGAGGAATGGAAGGCAGGTCTTCTTTGTTTGGAACTCAGGTAGCCAGGGATAGGATGGGTGGAGAAAGAGGTTAGAGAAGTGGGCATTGGCCAGATGATGCAGATCGTTGTATCCATTTGGGTTTATTTTGTTTTTCTAAGTGCAGTGAGAAGTCATTAAAGGATTTTAAATAGGGAAGTGATTGGATTTGTGTTAAGAAAAGATTGTTCCTGCTACCCTTTGGAGAAGGGCAAGGATGGAAACAAGGAGTTCATTTAAGGGGCTGTTGTGTTAGCGTAGGCAAGAGATGATGGGGATGAAGAGAAGAGGCCAAATTTGGAATCTGTTTCACAGGTAGACTCATAAGTTCTTGCTCATGGGTTGGACAGAGGCATTGTTGAGCAGCTAGGTAGATAGTAGTCCTTTATTGAAAGAAGAAAGATGGAGAGAGGAAGGACATGAGGGAAAAGTAAAGACTTCCTTTTGGACCTGCCCAGAATACTGTCCAGCCCTTTTCAGGAAATATTTGCTGACCCCTGGCATAAACAGGGCTCCCAAGGAAGGACAGTGGCTAGTGAAATAGATGAACCTATTTAAGGATATAACTTCCTAAAAATTGCAGCTTTCATGATGAAATTTTTTGCCCTTGAATGTATTTGGGATTTTGTGTTATAAAACTGTCTTAACACATTAAAAGTTTCAAAAACCGTTTCCCCCTGATTAATATGATGCTAGTTTGTTAGTGTCATGGCTTTTGATGGAAGATTAAAGCTTGGAAACAGTCCTCTGAAAAATCCTTTTAAAAATCTGTTCTTTCAGGTGCGTCAGCAATTTCCTGCTCCTCTTGGTTGGTCAGGCACTGAAGCTCCTACACAGGTCACTGTTGAAACTCATCCTGTTCAAGAAACAACCTTTCATGTAGCCCCTCAACAGAATGCATTGCATCATCACCATGGTAACAGTTCCCATCACCATCACCACCACCACCACCATGGACAACAAGCCTTGGGTAACCGGACCAGGCCAAGGGTCTACAATTCTCCAACGAATAGCTCCTCTACCCAAGATTCTATGGAGGTTGGCCACAGTCACCACTCCATGACATCCCTGTCTTCCTCAACGACTTCTTCCTCGACATCTTCCTCCTCTACTGGTAACCAAGGCAATCAGGCCTACCAGAATCGCCCAGTGGCTGCTAATACCTTGGACTTTGGACAGAATGGAGCTATGGACGTTAATTTGACCGTCTACTCCAATCCCCGCCAAGAGACTGGCATAGCTGGACATCCAACATACCAATTTTCTGCTAATACAGGTCCTGCACATTACATGACTGAAGGACATCTGACAATGAGGCAAGGGGCTGATAGAGAAGAGTCCCCCATGACAGGAGTTTGTGTGCAACAGAGTCCTGTAGCTAGCTCGTGACTACATTGAAACTTGAGTTTGTTTCTTGTGTGTTTTTATAGAAGTGGTGTTTTTTTTCCAAAAACAAAGTGCAAAGCTGCTTGAATCAGGAGGAGATTAACACACTGAACCGCTACAAGAGGGCAAAGCTGATTTTTTTTTTAACTTGAAAAGATTGCAAAGGGACATTGAAGTGTTTAAAAGAGCCATGTCCAAACCCATCTTCATGGATAGCTCAGAGGTATCCTCTTTTTGCTCCCCCATTTTAACTTGCCACATCCCAGTCACAGTGGGGTTTTTTTGTCTTTCTATTCAGCAAAAGTTAATATTCAGATGTTGGTCTTGGTCATTTGCCAACTAATTTTAAAGTAAAAGGCACTGCACATAATTTGCATAAAGGGCCCCATGAGGGTGTTTTTTTTTTTTCTTTTTGTCCCCCCCATCCCCCTTTTTTTTTGTTTTGTTCTGTTTTGTTTTGGGTGGGAGGGTGGGAAATTTGGGTTTTTAAGTCCTCTAAACACACTTGGGCACGGAAATGCAGTACTGTAAGGAAGAGGGACCTCCAGCTTCCACAAACACCATCTTCAGCTGTATGAAAGGGACGGTTGTGGTGAAGTTTGTCAGGCACAGTAAGCATGCTGAGTGGCGGGGATCAGAACTCTCCTATCTGAACCTACTGAGGAGCAAAGCAGCAATTACATGGGATCCTGTGGCTCTCCCGTTGCAGAGGCCACAGGAAGATAGGATGGAACGTGACTGGTCTCCTAACCAAGGTGCACTGAGAAGCAATCAACGGGTCGGTCGTGGCCAGTCCTGGGGAGGTCTGAGTGGTGGTCTTTGGGATAACCTTTGGCCTTATGGATTTGGACTCGAAATTAGAAGAGCCTACCATTTCAGATGCAATCACTTTTGGACATGCTTTTGCAGACAGTCCTTAATGCTGAAAACACAGAGAATGGGTAATTCAAGAGGCCTTTCTTTTAAAATAGACTTTTGTGACCCACTAATTGTAAGGTATTGCAAGGTCACTTTGCGTGTGTCATAAAGTTGACTTCCTTATTGGTTGAAGGTCACAGAAGTAGTGGTTTGCTTTGATGGAAATAGCTACAGCTGTGTCCCTTCCTGCTTTTTACTTTTTCTTTTGCTTTTTCTCGGCACGTGGTATCTCCACCATTTCTTCTGCACAAAGATGTCTTCTGTTCATCCTGAACATTTTTAAAAAATGCAGAATTTTATGTGACTGCTTTTTTGCCTCACAATTATGCTGTGAATTTTACAAAAATTTATTTTCTTTTTTGATAATTTATTGTACCAAAGCTGTTTTTATAGCACATAGATGTCTGTAACCAATAATGTAGCAGTTCTGCACTTTGACACAAGGTGTAACTAGACCATTTTTAAATGTCAGTTGAAAATTATGGCTGTACTATTGCTTAAACAAAACTGGAACTGTTGTTGAATCCATAGCCAATACATTTACAGCAATCTGTGTACTGAACATAGTAGATTGACATCTAATTCAAGATTACAACATCTGTTACATTCTAAGTGTGTTCAGGCTTCTGAAGGTAAAGGGACACTGGATCCAGAAGCTATGGAACCAGCAGTTNNNNNNNNNNNN
|
benign
| 319,009 |
Evaluate if the mutation on chromosome 21 at position 42380156 in TMPRSS3 (transmembrane serine protease 3) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic
|
TAGAAAGGCCCTGGACCAGCCACACTGGCACAGAACTGGGCCTGGGCCATGTGGGTGGGTTGGAAACTACAGAGAGCTGTGAGTGCCCTCGGCCAGGTGGGCAGCACTGCCAGTGGGTGGGGGGTAAGTAGGCCCACAGACTCGAAGCATCCGGGTTAGCTCCTGGGTGCCTTCAGCTGGGGGTGGGCTCAAGTAATTGGTGTTGAGTGGAAAACACTGAAATTCCTGTGTTAGGTTGAACTGTGGGCCCCTCCAAAATATGCCTACCTGCCACTATGGAGCCCAACCTTATTTGGAACAGGGTCTTTGCAGATGTAATTAAGGTAAGAATCTCAACATAAGATCTCCCAGCGTTTAGGGTGGACCCTAAATCCAACGACTTGCTGTCCTTATAAGACACAGGAGAGGGAAGTTTGAGATACAGAGACACAGGGGGCAAAGCCACGGGAGGAAGGAGGCTGAGGCTGGAGATCCAGCTACAAGCCCAGGAATGCCAGTGCAGCTGCAGCCGCCGCCACCAGAACCCAAAGGAAAGGGGTCAGAGCCTCCAGGAAAACCACCCTACAGACACCTCAACTGCGTGTGGAAATAAATCTCCACTTTTTTTTTGTTTTGTTTTGTTTTTTTAAACGCAAAGTCTCACTCTGTCACCCAGGATGGAGTATGATGGCATGATCACGGCTCACTGCAGCTTAGAATTCCTGGGCTCAAGCAATCCCACCCCAGCCTCCTGAGTAGCTGGGACCACCATGTCAGGCTAATTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGATGGAGCCTTGCTCTGTCACCCAAGCTGGAGTGGAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTACAGCCTCAGTCTCCTGAATAGCTGGGATTACAGGTGTGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTCTCACCACATTGGCCAAGCTGGTCTCAAACTCCTGAACCTCAAATGGTCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCGGCCCAGGCTAATTTTTTTAATTTTTTGTAGAGACAGGGTCTTGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGGTGTCTCTCTATGTTGCCCAGGCTGGTCTCAAACTAATGGCCTCAAGGGATCCCATAGACTCGGCCTCCCAAAATGCTGGGACTACAGGTGTGAGGGAACACACCTGGCCAATTTCCATCGTTTTAAGCCACGCAGACTGTGATAATTTGTCACGGCAGCCACGGAAAATGAATCCTCTTCCTACTAACAAAGAAAGTGATTGATGGAAAAACCTAAGACTCATGACCAGCTCTGTACCCACACTAAGGAAAGGGTGGCCCGGGCTTCATTTGCATGGACTATGGTTACTGCCACTCCTACTTCCCTTATTATTACAGCGATCTCATCTGCTGCTGCTTCCACTTGCTCTTTGTAGGATGAAAGAACACATCTTCCAAAGTCCCACAAGACAAAGAGTCTTCACAAATACGAATCTTTGAGTTCTGAATGAAGCCTGGGAGGGTTGTCTAGGTGGGCTCTGTATGTCCTCAGTTAACAAGGCCGGGGGTCCGGGCAGGGAAAGGGAAACACCTGCTGTGTTCGAGAAGGTCTAACTCTCTCCTGAGAAGGTCTGCAGGGTCATGTTGTCCCCATAACAATGGAACCGTGACTCCTGACCCACAGTTCCTTGGCTGACTGTGTCCCGAGCAGCTGACATGCACTCCCTGGCCGGGGTATCTGGGCAGCCCATGGGAACATCACAATGGGACATTGGGGGAGCCCCCTCCGCAGCCCTCTGGGTTCTGAGCCCCTGGACTCCGAATCTTGGCTTCAGCCCACTGACCTCCATCCTCTGTGGCCCCCCATCCTGACGTCCAGCACACTTTTCCATCGGGGAAGTTCTCTTCAGAGTTGGGCAGGCACACAGGCTGGATCATTTCTGCTTGAAGGGAAACAATAGTTCACAACTCAATTGAAGCAGGAGTCCGAGAAAACAATCTCATCTATGCTTCTGCCTCTGAGGAGCCCAAACTATCTCCCAAGGGAAGGAAGGTCAAGCCCTTGGTTACTTGAAAACGATCAGCTCACAGCAGGAGCCCCTTACCCCATCCACCACACCCAGAGCACTTAAAACTGTAAAAGAGCCCTCCACCGTCGCAGCGTGAGGGAACCTAGACCAGGGTCAGCACACCTTTTGTGGAAAGGGCTGAATAGTCAATGTTGTAGGCTTCGTGGGCTGTGCGGTCTCTGGCTGCCATTGGAGCATGAAGACAGCCCCAGGTAACAGGTACCCACATAGGTGTGGCTGTGTCCAGTAAAATGTCTATTTACCAAAACACGATGGGGCAGACCAGGCTCTCAGGCCAACGCGTGCCCACTCCTGGCTAGATCACAGTGTGGGTGTTGCCTATAGAACACGGCTCCATGAATATTGCTATGGTTCCTGGGATATCTGGAGGCGACGAGTTTGCCTGTGTGTAGGGCTGGATCCTGTGGGCCTCCCCCAAAGCCAGAGTGCCCTGCACATACCTCGGGCTTTCGTGTGAACACACCCTGAGGTTCCCCGAGCTTTTCTGTGCAGAACAGTAATGGAGAGGTAGAGAAGGAATAAAAGAACTCACTTGAAACTTTGGCAAAGTACAAGTGCTGGCACCTCATTTCCTATAACCAATATCATTAATAATAGTTGGCAGACTGGCACCACCATAATCATTTTCCTGCTTCTCTGGAAATATTTGTTTCTGGGCATTACGTGTCCATGTGATGGATGCAGTAATGACTCTGCCAGGTAGAGCCTGCAGCTGGTCTCAGGTCAGGATTCTGCTTCAATAAGAGGGAATTAACCTATTTATTATGCTTTCCCTGCTTTCTTAAGAAGGAAAGAGGGCTTTAATTTAATTGGGAGTAGTCTCCTAGTACTTTGTTTGCATCTACGAGATGTTTGAAAGTTTTATCAGGTGTGGCTCTTCTGGCATTTTCGTAATGTCCAGAGGGCAGGGCTTGACTTTTTCAAGAAACAGGGTCTTTAGGAGCTGCTGGTTGGGAGAGAACTTTTCTGTACTTCCAGGGAGCTGAGGGTGCCCAGCATCTTTCAGCTTGTAAAGAAATGAGAGGACTCCACCACACCACCTGGCCAGCCTGGGAGGTTCTGTTTCTCAACCAAGATGGCCCCTCTACCTGGAGAAACCAGGCAGGTGGGAGGCACTGGCTGAGTGACCCCTCCACAATAGGCTCCTGGACAGGAAAGTGCTCTTTGTCCCTACAGATGGATGACTCTCTTCCACCACCTAGAGGCCCCAGCTGGTCTGGCCTCAAGAAGCTCTTTCTGCCTCCAGGTGGCACCAACAGGGAGAAGGTGGCACCAACAGGGAGAAGGTGGCACCAGACAAAGCACACAGCCCACGAAGGCTCTAAAATTATTGTTGGAACTACAGCCCACCAATCTACCTGGCAGAGTCATCAGTGCATTCATTCTGTAGGCCAGGATCTACAAACTACATTTAAACAGGGTAACATTGAAAATGTAGGTAGGACTCAAGTCTGCAAACATGAGAGCCACATTGTCCAGGATACAATTGAAAATCACTTGTCATACCAAGAGCTAGGAGCATCACAATTTTAATGAGAAAAGATAATCAACTGATGCCAACACCAACATGAATCAGGAGTTGGAATTATTAATATCTGACAAGGATTATAAAGCAGCCATCATAAGAATGCTTCAATGAGCAATTGCAAATCCTCTTGAAACAAAGGAAGAGCTGCAGAACCACATAGAGACCCAGATGTACCATTGAACGTGAGTGGCCCGGCCAGCTTCATAAGGGCGATGTCATTGCCCAGCCTCTTTGGCTTGTACTTGCTGTGGTAGACAATCTTCTCCACCAAGTGGGATGGGGCTGGATTGTCCAACAGGGAAACTAGACCCAC
|
TAGAAAGGCCCTGGACCAGCCACACTGGCACAGAACTGGGCCTGGGCCATGTGGGTGGGTTGGAAACTACAGAGAGCTGTGAGTGCCCTCGGCCAGGTGGGCAGCACTGCCAGTGGGTGGGGGGTAAGTAGGCCCACAGACTCGAAGCATCCGGGTTAGCTCCTGGGTGCCTTCAGCTGGGGGTGGGCTCAAGTAATTGGTGTTGAGTGGAAAACACTGAAATTCCTGTGTTAGGTTGAACTGTGGGCCCCTCCAAAATATGCCTACCTGCCACTATGGAGCCCAACCTTATTTGGAACAGGGTCTTTGCAGATGTAATTAAGGTAAGAATCTCAACATAAGATCTCCCAGCGTTTAGGGTGGACCCTAAATCCAACGACTTGCTGTCCTTATAAGACACAGGAGAGGGAAGTTTGAGATACAGAGACACAGGGGGCAAAGCCACGGGAGGAAGGAGGCTGAGGCTGGAGATCCAGCTACAAGCCCAGGAATGCCAGTGCAGCTGCAGCCGCCGCCACCAGAACCCAAAGGAAAGGGGTCAGAGCCTCCAGGAAAACCACCCTACAGACACCTCAACTGCGTGTGGAAATAAATCTCCACTTTTTTTTTGTTTTGTTTTGTTTTTTTAAACGCAAAGTCTCACTCTGTCACCCAGGATGGAGTATGATGGCATGATCACGGCTCACTGCAGCTTAGAATTCCTGGGCTCAAGCAATCCCACCCCAGCCTCCTGAGTAGCTGGGACCACCATGTCAGGCTAATTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGATGGAGCCTTGCTCTGTCACCCAAGCTGGAGTGGAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTACAGCCTCAGTCTCCTGAATAGCTGGGATTACAGGTGTGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTCTCACCACATTGGCCAAGCTGGTCTCAAACTCCTGAACCTCAAATGGTCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCGGCCCAGGCTAATTTTTTTAATTTTTTGTAGAGACAGGGTCTTGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGGTGTCTCTCTATGTTGCCCAGGCTGGTCTCAAACTAATGGCCTCAAGGGATCCCATAGACTCGGCCTCCCAAAATGCTGGGACTACAGGTGTGAGGGAACACACCTGGCCAATTTCCATCGTTTTAAGCCACGCAGACTGTGATAATTTGTCACGGCAGCCACGGAAAATGAATCCTCTTCCTACTAACAAAGAAAGTGATTGATGGAAAAACCTAAGACTCATGACCAGCTCTGTACCCACACTAAGGAAAGGGTGGCCCGGGCTTCATTTGCATGGACTATGGTTACTGCCACTCCTACTTCCCTTATTATTACAGCGATCTCATCTGCTGCTGCTTCCACTTGCTCTTTGTAGGATGAAAGAACACATCTTCCAAAGTCCCACAAGACAAAGAGTCTTCACAAATACGAATCTTTGAGTTCTGAATGAAGCCTGGGAGGGTTGTCTAGGTGGGCTCTGTATGTCCTCAGTTAACAAGGCCGGGGGTCCGGGCAGGGAAAGGGAAACACCTGCTGTGTTCGAGAAGGTCTAACTCTCTCCTGAGAAGGTCTGCAGGGTCATGTTGTCCCCATAACAATGGAACCGTGACTCCTGACCCACAGTTCCTTGGCTGACTGTGTCCCGAGCAGCTGACATGCACTCCCTGGCCGGGGTATCTGGGCAGCCCATGGGAACATCACAATGGGACATTGGGGGAGCCCCCTCCGCAGCCCTCTGGGTTCTGAGCCCCTGGACTCCGAATCTTGGCTTCAGCCCACTGACCTCCATCCTCTGTGGCCCCCCATCCTGACGTCCAGCACACTTTCCATCGGGGAAGTTCTCTTCAGAGTTGGGCAGGCACACAGGCTGGATCATTTCTGCTTGAAGGGAAACAATAGTTCACAACTCAATTGAAGCAGGAGTCCGAGAAAACAATCTCATCTATGCTTCTGCCTCTGAGGAGCCCAAACTATCTCCCAAGGGAAGGAAGGTCAAGCCCTTGGTTACTTGAAAACGATCAGCTCACAGCAGGAGCCCCTTACCCCATCCACCACACCCAGAGCACTTAAAACTGTAAAAGAGCCCTCCACCGTCGCAGCGTGAGGGAACCTAGACCAGGGTCAGCACACCTTTTGTGGAAAGGGCTGAATAGTCAATGTTGTAGGCTTCGTGGGCTGTGCGGTCTCTGGCTGCCATTGGAGCATGAAGACAGCCCCAGGTAACAGGTACCCACATAGGTGTGGCTGTGTCCAGTAAAATGTCTATTTACCAAAACACGATGGGGCAGACCAGGCTCTCAGGCCAACGCGTGCCCACTCCTGGCTAGATCACAGTGTGGGTGTTGCCTATAGAACACGGCTCCATGAATATTGCTATGGTTCCTGGGATATCTGGAGGCGACGAGTTTGCCTGTGTGTAGGGCTGGATCCTGTGGGCCTCCCCCAAAGCCAGAGTGCCCTGCACATACCTCGGGCTTTCGTGTGAACACACCCTGAGGTTCCCCGAGCTTTTCTGTGCAGAACAGTAATGGAGAGGTAGAGAAGGAATAAAAGAACTCACTTGAAACTTTGGCAAAGTACAAGTGCTGGCACCTCATTTCCTATAACCAATATCATTAATAATAGTTGGCAGACTGGCACCACCATAATCATTTTCCTGCTTCTCTGGAAATATTTGTTTCTGGGCATTACGTGTCCATGTGATGGATGCAGTAATGACTCTGCCAGGTAGAGCCTGCAGCTGGTCTCAGGTCAGGATTCTGCTTCAATAAGAGGGAATTAACCTATTTATTATGCTTTCCCTGCTTTCTTAAGAAGGAAAGAGGGCTTTAATTTAATTGGGAGTAGTCTCCTAGTACTTTGTTTGCATCTACGAGATGTTTGAAAGTTTTATCAGGTGTGGCTCTTCTGGCATTTTCGTAATGTCCAGAGGGCAGGGCTTGACTTTTTCAAGAAACAGGGTCTTTAGGAGCTGCTGGTTGGGAGAGAACTTTTCTGTACTTCCAGGGAGCTGAGGGTGCCCAGCATCTTTCAGCTTGTAAAGAAATGAGAGGACTCCACCACACCACCTGGCCAGCCTGGGAGGTTCTGTTTCTCAACCAAGATGGCCCCTCTACCTGGAGAAACCAGGCAGGTGGGAGGCACTGGCTGAGTGACCCCTCCACAATAGGCTCCTGGACAGGAAAGTGCTCTTTGTCCCTACAGATGGATGACTCTCTTCCACCACCTAGAGGCCCCAGCTGGTCTGGCCTCAAGAAGCTCTTTCTGCCTCCAGGTGGCACCAACAGGGAGAAGGTGGCACCAACAGGGAGAAGGTGGCACCAGACAAAGCACACAGCCCACGAAGGCTCTAAAATTATTGTTGGAACTACAGCCCACCAATCTACCTGGCAGAGTCATCAGTGCATTCATTCTGTAGGCCAGGATCTACAAACTACATTTAAACAGGGTAACATTGAAAATGTAGGTAGGACTCAAGTCTGCAAACATGAGAGCCACATTGTCCAGGATACAATTGAAAATCACTTGTCATACCAAGAGCTAGGAGCATCACAATTTTAATGAGAAAAGATAATCAACTGATGCCAACACCAACATGAATCAGGAGTTGGAATTATTAATATCTGACAAGGATTATAAAGCAGCCATCATAAGAATGCTTCAATGAGCAATTGCAAATCCTCTTGAAACAAAGGAAGAGCTGCAGAACCACATAGAGACCCAGATGTACCATTGAACGTGAGTGGCCCGGCCAGCTTCATAAGGGCGATGTCATTGCCCAGCCTCTTTGGCTTGTACTTGCTGTGGTAGACAATCTTCTCCACCAAGTGGGATGGGGCTGGATTGTCCAACAGGGAAACTAGACCCACN
|
pathogenic
| 319,183 |
Considering the genetic mutation at chromosome 21, position 42380165, impacting TMPRSS3 (transmembrane serine protease 3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_8']
|
CCTGGACCAGCCACACTGGCACAGAACTGGGCCTGGGCCATGTGGGTGGGTTGGAAACTACAGAGAGCTGTGAGTGCCCTCGGCCAGGTGGGCAGCACTGCCAGTGGGTGGGGGGTAAGTAGGCCCACAGACTCGAAGCATCCGGGTTAGCTCCTGGGTGCCTTCAGCTGGGGGTGGGCTCAAGTAATTGGTGTTGAGTGGAAAACACTGAAATTCCTGTGTTAGGTTGAACTGTGGGCCCCTCCAAAATATGCCTACCTGCCACTATGGAGCCCAACCTTATTTGGAACAGGGTCTTTGCAGATGTAATTAAGGTAAGAATCTCAACATAAGATCTCCCAGCGTTTAGGGTGGACCCTAAATCCAACGACTTGCTGTCCTTATAAGACACAGGAGAGGGAAGTTTGAGATACAGAGACACAGGGGGCAAAGCCACGGGAGGAAGGAGGCTGAGGCTGGAGATCCAGCTACAAGCCCAGGAATGCCAGTGCAGCTGCAGCCGCCGCCACCAGAACCCAAAGGAAAGGGGTCAGAGCCTCCAGGAAAACCACCCTACAGACACCTCAACTGCGTGTGGAAATAAATCTCCACTTTTTTTTTGTTTTGTTTTGTTTTTTTAAACGCAAAGTCTCACTCTGTCACCCAGGATGGAGTATGATGGCATGATCACGGCTCACTGCAGCTTAGAATTCCTGGGCTCAAGCAATCCCACCCCAGCCTCCTGAGTAGCTGGGACCACCATGTCAGGCTAATTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGATGGAGCCTTGCTCTGTCACCCAAGCTGGAGTGGAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTACAGCCTCAGTCTCCTGAATAGCTGGGATTACAGGTGTGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTCTCACCACATTGGCCAAGCTGGTCTCAAACTCCTGAACCTCAAATGGTCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCGGCCCAGGCTAATTTTTTTAATTTTTTGTAGAGACAGGGTCTTGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGGTGTCTCTCTATGTTGCCCAGGCTGGTCTCAAACTAATGGCCTCAAGGGATCCCATAGACTCGGCCTCCCAAAATGCTGGGACTACAGGTGTGAGGGAACACACCTGGCCAATTTCCATCGTTTTAAGCCACGCAGACTGTGATAATTTGTCACGGCAGCCACGGAAAATGAATCCTCTTCCTACTAACAAAGAAAGTGATTGATGGAAAAACCTAAGACTCATGACCAGCTCTGTACCCACACTAAGGAAAGGGTGGCCCGGGCTTCATTTGCATGGACTATGGTTACTGCCACTCCTACTTCCCTTATTATTACAGCGATCTCATCTGCTGCTGCTTCCACTTGCTCTTTGTAGGATGAAAGAACACATCTTCCAAAGTCCCACAAGACAAAGAGTCTTCACAAATACGAATCTTTGAGTTCTGAATGAAGCCTGGGAGGGTTGTCTAGGTGGGCTCTGTATGTCCTCAGTTAACAAGGCCGGGGGTCCGGGCAGGGAAAGGGAAACACCTGCTGTGTTCGAGAAGGTCTAACTCTCTCCTGAGAAGGTCTGCAGGGTCATGTTGTCCCCATAACAATGGAACCGTGACTCCTGACCCACAGTTCCTTGGCTGACTGTGTCCCGAGCAGCTGACATGCACTCCCTGGCCGGGGTATCTGGGCAGCCCATGGGAACATCACAATGGGACATTGGGGGAGCCCCCTCCGCAGCCCTCTGGGTTCTGAGCCCCTGGACTCCGAATCTTGGCTTCAGCCCACTGACCTCCATCCTCTGTGGCCCCCCATCCTGACGTCCAGCACACTTTTCCATCGGGGAAGTTCTCTTCAGAGTTGGGCAGGCACACAGGCTGGATCATTTCTGCTTGAAGGGAAACAATAGTTCACAACTCAATTGAAGCAGGAGTCCGAGAAAACAATCTCATCTATGCTTCTGCCTCTGAGGAGCCCAAACTATCTCCCAAGGGAAGGAAGGTCAAGCCCTTGGTTACTTGAAAACGATCAGCTCACAGCAGGAGCCCCTTACCCCATCCACCACACCCAGAGCACTTAAAACTGTAAAAGAGCCCTCCACCGTCGCAGCGTGAGGGAACCTAGACCAGGGTCAGCACACCTTTTGTGGAAAGGGCTGAATAGTCAATGTTGTAGGCTTCGTGGGCTGTGCGGTCTCTGGCTGCCATTGGAGCATGAAGACAGCCCCAGGTAACAGGTACCCACATAGGTGTGGCTGTGTCCAGTAAAATGTCTATTTACCAAAACACGATGGGGCAGACCAGGCTCTCAGGCCAACGCGTGCCCACTCCTGGCTAGATCACAGTGTGGGTGTTGCCTATAGAACACGGCTCCATGAATATTGCTATGGTTCCTGGGATATCTGGAGGCGACGAGTTTGCCTGTGTGTAGGGCTGGATCCTGTGGGCCTCCCCCAAAGCCAGAGTGCCCTGCACATACCTCGGGCTTTCGTGTGAACACACCCTGAGGTTCCCCGAGCTTTTCTGTGCAGAACAGTAATGGAGAGGTAGAGAAGGAATAAAAGAACTCACTTGAAACTTTGGCAAAGTACAAGTGCTGGCACCTCATTTCCTATAACCAATATCATTAATAATAGTTGGCAGACTGGCACCACCATAATCATTTTCCTGCTTCTCTGGAAATATTTGTTTCTGGGCATTACGTGTCCATGTGATGGATGCAGTAATGACTCTGCCAGGTAGAGCCTGCAGCTGGTCTCAGGTCAGGATTCTGCTTCAATAAGAGGGAATTAACCTATTTATTATGCTTTCCCTGCTTTCTTAAGAAGGAAAGAGGGCTTTAATTTAATTGGGAGTAGTCTCCTAGTACTTTGTTTGCATCTACGAGATGTTTGAAAGTTTTATCAGGTGTGGCTCTTCTGGCATTTTCGTAATGTCCAGAGGGCAGGGCTTGACTTTTTCAAGAAACAGGGTCTTTAGGAGCTGCTGGTTGGGAGAGAACTTTTCTGTACTTCCAGGGAGCTGAGGGTGCCCAGCATCTTTCAGCTTGTAAAGAAATGAGAGGACTCCACCACACCACCTGGCCAGCCTGGGAGGTTCTGTTTCTCAACCAAGATGGCCCCTCTACCTGGAGAAACCAGGCAGGTGGGAGGCACTGGCTGAGTGACCCCTCCACAATAGGCTCCTGGACAGGAAAGTGCTCTTTGTCCCTACAGATGGATGACTCTCTTCCACCACCTAGAGGCCCCAGCTGGTCTGGCCTCAAGAAGCTCTTTCTGCCTCCAGGTGGCACCAACAGGGAGAAGGTGGCACCAACAGGGAGAAGGTGGCACCAGACAAAGCACACAGCCCACGAAGGCTCTAAAATTATTGTTGGAACTACAGCCCACCAATCTACCTGGCAGAGTCATCAGTGCATTCATTCTGTAGGCCAGGATCTACAAACTACATTTAAACAGGGTAACATTGAAAATGTAGGTAGGACTCAAGTCTGCAAACATGAGAGCCACATTGTCCAGGATACAATTGAAAATCACTTGTCATACCAAGAGCTAGGAGCATCACAATTTTAATGAGAAAAGATAATCAACTGATGCCAACACCAACATGAATCAGGAGTTGGAATTATTAATATCTGACAAGGATTATAAAGCAGCCATCATAAGAATGCTTCAATGAGCAATTGCAAATCCTCTTGAAACAAAGGAAGAGCTGCAGAACCACATAGAGACCCAGATGTACCATTGAACGTGAGTGGCCCGGCCAGCTTCATAAGGGCGATGTCATTGCCCAGCCTCTTTGGCTTGTACTTGCTGTGGTAGACAATCTTCTCCACCAAGTGGGATGGGGCTGGATTGTCCAACAGGGAAACTAGACCCACCTGGATGGT
|
CCTGGACCAGCCACACTGGCACAGAACTGGGCCTGGGCCATGTGGGTGGGTTGGAAACTACAGAGAGCTGTGAGTGCCCTCGGCCAGGTGGGCAGCACTGCCAGTGGGTGGGGGGTAAGTAGGCCCACAGACTCGAAGCATCCGGGTTAGCTCCTGGGTGCCTTCAGCTGGGGGTGGGCTCAAGTAATTGGTGTTGAGTGGAAAACACTGAAATTCCTGTGTTAGGTTGAACTGTGGGCCCCTCCAAAATATGCCTACCTGCCACTATGGAGCCCAACCTTATTTGGAACAGGGTCTTTGCAGATGTAATTAAGGTAAGAATCTCAACATAAGATCTCCCAGCGTTTAGGGTGGACCCTAAATCCAACGACTTGCTGTCCTTATAAGACACAGGAGAGGGAAGTTTGAGATACAGAGACACAGGGGGCAAAGCCACGGGAGGAAGGAGGCTGAGGCTGGAGATCCAGCTACAAGCCCAGGAATGCCAGTGCAGCTGCAGCCGCCGCCACCAGAACCCAAAGGAAAGGGGTCAGAGCCTCCAGGAAAACCACCCTACAGACACCTCAACTGCGTGTGGAAATAAATCTCCACTTTTTTTTTGTTTTGTTTTGTTTTTTTAAACGCAAAGTCTCACTCTGTCACCCAGGATGGAGTATGATGGCATGATCACGGCTCACTGCAGCTTAGAATTCCTGGGCTCAAGCAATCCCACCCCAGCCTCCTGAGTAGCTGGGACCACCATGTCAGGCTAATTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGATGGAGCCTTGCTCTGTCACCCAAGCTGGAGTGGAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTACAGCCTCAGTCTCCTGAATAGCTGGGATTACAGGTGTGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTCTCACCACATTGGCCAAGCTGGTCTCAAACTCCTGAACCTCAAATGGTCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCGGCCCAGGCTAATTTTTTTAATTTTTTGTAGAGACAGGGTCTTGCCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGGTGTCTCTCTATGTTGCCCAGGCTGGTCTCAAACTAATGGCCTCAAGGGATCCCATAGACTCGGCCTCCCAAAATGCTGGGACTACAGGTGTGAGGGAACACACCTGGCCAATTTCCATCGTTTTAAGCCACGCAGACTGTGATAATTTGTCACGGCAGCCACGGAAAATGAATCCTCTTCCTACTAACAAAGAAAGTGATTGATGGAAAAACCTAAGACTCATGACCAGCTCTGTACCCACACTAAGGAAAGGGTGGCCCGGGCTTCATTTGCATGGACTATGGTTACTGCCACTCCTACTTCCCTTATTATTACAGCGATCTCATCTGCTGCTGCTTCCACTTGCTCTTTGTAGGATGAAAGAACACATCTTCCAAAGTCCCACAAGACAAAGAGTCTTCACAAATACGAATCTTTGAGTTCTGAATGAAGCCTGGGAGGGTTGTCTAGGTGGGCTCTGTATGTCCTCAGTTAACAAGGCCGGGGGTCCGGGCAGGGAAAGGGAAACACCTGCTGTGTTCGAGAAGGTCTAACTCTCTCCTGAGAAGGTCTGCAGGGTCATGTTGTCCCCATAACAATGGAACCGTGACTCCTGACCCACAGTTCCTTGGCTGACTGTGTCCCGAGCAGCTGACATGCACTCCCTGGCCGGGGTATCTGGGCAGCCCATGGGAACATCACAATGGGACATTGGGGGAGCCCCCTCCGCAGCCCTCTGGGTTCTGAGCCCCTGGACTCCGAATCTTGGCTTCAGCCCACTGACCTCCATCCTCTGTGGCCCCCCATCCTGACGTCCAGCACACTTTTCCATCGGGAAGTTCTCTTCAGAGTTGGGCAGGCACACAGGCTGGATCATTTCTGCTTGAAGGGAAACAATAGTTCACAACTCAATTGAAGCAGGAGTCCGAGAAAACAATCTCATCTATGCTTCTGCCTCTGAGGAGCCCAAACTATCTCCCAAGGGAAGGAAGGTCAAGCCCTTGGTTACTTGAAAACGATCAGCTCACAGCAGGAGCCCCTTACCCCATCCACCACACCCAGAGCACTTAAAACTGTAAAAGAGCCCTCCACCGTCGCAGCGTGAGGGAACCTAGACCAGGGTCAGCACACCTTTTGTGGAAAGGGCTGAATAGTCAATGTTGTAGGCTTCGTGGGCTGTGCGGTCTCTGGCTGCCATTGGAGCATGAAGACAGCCCCAGGTAACAGGTACCCACATAGGTGTGGCTGTGTCCAGTAAAATGTCTATTTACCAAAACACGATGGGGCAGACCAGGCTCTCAGGCCAACGCGTGCCCACTCCTGGCTAGATCACAGTGTGGGTGTTGCCTATAGAACACGGCTCCATGAATATTGCTATGGTTCCTGGGATATCTGGAGGCGACGAGTTTGCCTGTGTGTAGGGCTGGATCCTGTGGGCCTCCCCCAAAGCCAGAGTGCCCTGCACATACCTCGGGCTTTCGTGTGAACACACCCTGAGGTTCCCCGAGCTTTTCTGTGCAGAACAGTAATGGAGAGGTAGAGAAGGAATAAAAGAACTCACTTGAAACTTTGGCAAAGTACAAGTGCTGGCACCTCATTTCCTATAACCAATATCATTAATAATAGTTGGCAGACTGGCACCACCATAATCATTTTCCTGCTTCTCTGGAAATATTTGTTTCTGGGCATTACGTGTCCATGTGATGGATGCAGTAATGACTCTGCCAGGTAGAGCCTGCAGCTGGTCTCAGGTCAGGATTCTGCTTCAATAAGAGGGAATTAACCTATTTATTATGCTTTCCCTGCTTTCTTAAGAAGGAAAGAGGGCTTTAATTTAATTGGGAGTAGTCTCCTAGTACTTTGTTTGCATCTACGAGATGTTTGAAAGTTTTATCAGGTGTGGCTCTTCTGGCATTTTCGTAATGTCCAGAGGGCAGGGCTTGACTTTTTCAAGAAACAGGGTCTTTAGGAGCTGCTGGTTGGGAGAGAACTTTTCTGTACTTCCAGGGAGCTGAGGGTGCCCAGCATCTTTCAGCTTGTAAAGAAATGAGAGGACTCCACCACACCACCTGGCCAGCCTGGGAGGTTCTGTTTCTCAACCAAGATGGCCCCTCTACCTGGAGAAACCAGGCAGGTGGGAGGCACTGGCTGAGTGACCCCTCCACAATAGGCTCCTGGACAGGAAAGTGCTCTTTGTCCCTACAGATGGATGACTCTCTTCCACCACCTAGAGGCCCCAGCTGGTCTGGCCTCAAGAAGCTCTTTCTGCCTCCAGGTGGCACCAACAGGGAGAAGGTGGCACCAACAGGGAGAAGGTGGCACCAGACAAAGCACACAGCCCACGAAGGCTCTAAAATTATTGTTGGAACTACAGCCCACCAATCTACCTGGCAGAGTCATCAGTGCATTCATTCTGTAGGCCAGGATCTACAAACTACATTTAAACAGGGTAACATTGAAAATGTAGGTAGGACTCAAGTCTGCAAACATGAGAGCCACATTGTCCAGGATACAATTGAAAATCACTTGTCATACCAAGAGCTAGGAGCATCACAATTTTAATGAGAAAAGATAATCAACTGATGCCAACACCAACATGAATCAGGAGTTGGAATTATTAATATCTGACAAGGATTATAAAGCAGCCATCATAAGAATGCTTCAATGAGCAATTGCAAATCCTCTTGAAACAAAGGAAGAGCTGCAGAACCACATAGAGACCCAGATGTACCATTGAACGTGAGTGGCCCGGCCAGCTTCATAAGGGCGATGTCATTGCCCAGCCTCTTTGGCTTGTACTTGCTGTGGTAGACAATCTTCTCCACCAAGTGGGATGGGGCTGGATTGTCCAACAGGGAAACTAGACCCACCTGGATGGTN
|
pathogenic
| 319,184 |
Does the genetic variant at chromosome 21, position 42383171, impacting gene TMPRSS3 (transmembrane serine protease 3), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_8']
|
TATTATGCTTTCCCTGCTTTCTTAAGAAGGAAAGAGGGCTTTAATTTAATTGGGAGTAGTCTCCTAGTACTTTGTTTGCATCTACGAGATGTTTGAAAGTTTTATCAGGTGTGGCTCTTCTGGCATTTTCGTAATGTCCAGAGGGCAGGGCTTGACTTTTTCAAGAAACAGGGTCTTTAGGAGCTGCTGGTTGGGAGAGAACTTTTCTGTACTTCCAGGGAGCTGAGGGTGCCCAGCATCTTTCAGCTTGTAAAGAAATGAGAGGACTCCACCACACCACCTGGCCAGCCTGGGAGGTTCTGTTTCTCAACCAAGATGGCCCCTCTACCTGGAGAAACCAGGCAGGTGGGAGGCACTGGCTGAGTGACCCCTCCACAATAGGCTCCTGGACAGGAAAGTGCTCTTTGTCCCTACAGATGGATGACTCTCTTCCACCACCTAGAGGCCCCAGCTGGTCTGGCCTCAAGAAGCTCTTTCTGCCTCCAGGTGGCACCAACAGGGAGAAGGTGGCACCAACAGGGAGAAGGTGGCACCAGACAAAGCACACAGCCCACGAAGGCTCTAAAATTATTGTTGGAACTACAGCCCACCAATCTACCTGGCAGAGTCATCAGTGCATTCATTCTGTAGGCCAGGATCTACAAACTACATTTAAACAGGGTAACATTGAAAATGTAGGTAGGACTCAAGTCTGCAAACATGAGAGCCACATTGTCCAGGATACAATTGAAAATCACTTGTCATACCAAGAGCTAGGAGCATCACAATTTTAATGAGAAAAGATAATCAACTGATGCCAACACCAACATGAATCAGGAGTTGGAATTATTAATATCTGACAAGGATTATAAAGCAGCCATCATAAGAATGCTTCAATGAGCAATTGCAAATCCTCTTGAAACAAAGGAAGAGCTGCAGAACCACATAGAGACCCAGATGTACCATTGAACGTGAGTGGCCCGGCCAGCTTCATAAGGGCGATGTCATTGCCCAGCCTCTTTGGCTTGTACTTGCTGTGGTAGACAATCTTCTCCACCAAGTGGGATGGGGCTGGATTGTCCAACAGGGAAACTAGACCCACCTGGATGGTCCATGACTTGGGGAGGTACAAGCTGAAATGAGAAGAGCAAGAGGTGAAGCACAGGAAAAGTCCAACCACTGAACTCATTGACCTCAGGTATCCTGAAAACCTAGGAAGATGGTGGGAGAGGTTATCAGGCAAGATGTGGTCCCATCACCCTGCTTGTTTATGCTGTATATGCAACTGCACTGCCACGCCCTACAGAAACACAGACCCACACCCCATGTGTTTCCCAGACCTCACTCTCAGCACCTCTGAGGTCGTCTTGGCATTTGAGGGCTGAACTCAACATTGGTCACTGCAAGGAGTCTATCAGGCACTACTGTTCATCAAACAGCAACAAAATAGGGGGTAAAAATATCAGGGAGAACCATTGTGTTTGGAAGTCTTTTCTGTAGTTTTCTTGCACTCTAAACTCCTGAGATTTTAAGAAGAGACCCAGTACCTGGCCCCCAACATATTCCCTCTAGCCTCCCGCACCACCGTCTCACCCTGTCTCTGCCATAACATGGTCCACTGGAATTAGCTATGGGAAGGTCTAGGTCCTTTCATTTTTGTGGGTTTCCTCCAGCACAGGAGCTTCCTTCCTCTTCTGTCTGCCCTTTCTCTAGGAGCTACAATCCTTAAAACAAGCTCAGGGTCACAAGTTACCCCCAGCTGATGATGATGGGTCCACAGTGAGGCTGGAGACTCCTCTCCAACTGTACATTACTTGGAGGTTAGTCTCTCTGTCTTCCCTCTGGACCCGCTTCTCACCACCCAAAGCAGCCCCACCCTGACATGACCCAGGAGTGAACAGGGGTCTGGGAAGATGGTCAGCAGCACTCACTCATAAACACAGTGTGCAGCAGTGATGATCCACAGGGGCGTGATGACAGAGCCCCCGCACAGGTGGTAGCCCTGGAACTGAAGGCTGGCCTGCCAGGGCCACTGCGAGAGCAAGGACATGTTTCCACCCACGATGCGTGAGCTGTAGCCCCTTCTATGACCACAGGCTATGGAGGGGAACAAAGGCTTGTGGGTCCACCCTGCAGACTTCTTTGGGGGACATGGTGTCACCACCATGCACCTGCTCCTCTCTCCCCACCCTCACTGCCCCTGCTCCCAGAGCTCACAGCAGCTCTAAGACAAGTGCTGCAAGGGGGAGCTCAGCAGGGGAGGTGGTCAGGCTCTTGGGGAGACCTGAGGATGGTGGGTGCTGTGGAGGATGCGGTGGGAAAAGCACCTGCCCTGCTTGGTCAGTGCCCAGCATTGGCAGCACCACTCCCCATCCTATTCCCCCAGTGATGACAACACCCTGGGATGTCAGGAGCAGGCAGGAACCTTCTGCAGCCCCCTCCTCACTGCCGCTGGTGCACGCACCTCCCTGACTGCTCCAGACCCCACCCTTGTGGTGTGAACACTCCCCTCTGCCAGGAACGAGGGGCACTGCCCGAGGCCTGGAGTGGGCACTGTGCACGTGTAAGGAGGAAGTGGGAACTGAGTCAGGGACTCAAGGCTCTTCAGAGTGATGGGACATCATGGGCCTTGGTCCTGTCCGCTGCTAATGAGTTGCTCTGGCTGTCTCCCCCACCTGACAGGTGAGGCCGACAGGTGAGGATGACACTGCTCCCCTCCTCCAGCAGGTAGGGGTACACAGAGTTCCCGCCTGGCACCCAGGAGGAAGGGATACAGAGCCCCATGGGGGGAGAGGACTCTGAGGGCAAGGAGATAGGACTTAGCATGTGCTTGCTCCCCCTGGACCCCTGCCTTTCTGGAACTCTTACCTGTGCACTGCAAGGTAACCACGTGGCCAGAGGCACATCCCTCCCTAAAGCGGAGAAAAAGTAGGCTCTGTGAAAAATGCCCCAGATCTGTGAAAGGAACACTCTTAAAAACTCAATCTTAGGGTAACAGAAAAATAAATTCTATTTCCCCCTCTTTGAATATAGATTACAATTTTAGTCTATGTTCAAAAAAAAAAAAAACCATGAGGATGAGGTCACACAATTCATTGTAAAACACTCAACTAACAGTGAAGTATTGTGTACACAACAGGCCGTTCTGTATTTCTAAGCTTTAGATAGCTAGTGATAAAGGATGTGTAAGGAGATATATTCTATCAACATGTCACGCTGTCATTGCATGGCGATTCAGCCCAATGTTCTCCACCTCCTGGCCCCTAGGGACACAAGAGTGCCCAAGGGACAGCGTGGCAAGCTCTCTAGGACTCCTTGTAGCCTGGGTTCACACATCTGGCAGAGGACTCCTTCCCCAGAGCAATAAAGTGTGATTGCCCCAAAATTGACACTCCTACCCCCACCCCCACACACAGGTGGAGACCAGGGTGTGTGCTTTTCTCATAGTGAAGGGAAAGGGATCCCAAAATCTTTGTAATGTTTTCTGCCTTTTGAGCCCCAGCTCATCATGCAAGAGAAAGCTAGTGTCACCAGACTGTGGATTTAGCACCCAACACATGAGCTGTCCCTCCAGACTGCAGGTGGGTCCCGGGGTGCTTATTCATCCCCGACGGACAGACCAACAAGCCTACTGTTCCCAGAGCAGAAAATGCACATCTTAGGGTTTGGGCCTAGATGTCAGGGAGAGAATATGGAATTGGATTCAGAACTCTTGGCTGTATCTGCTACACACCGTCTAACCTGGGGCAAGGCATGTGGTCCCTGTAAGTTTCAGTTACCTGGTGGTTATTTAAGAACACCTGGTTTTACCTTCCCCATGAGTTGTTGGGGAAAACATGTAAAATAAATAATGAATGCTAAAATACTTCGTAAACAAAGAAGGATAAATTTCTATCTTAATTTCTGTTTTTCTTCCTTTTACCCTCCCTCTCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCTTTTCCTCCCCACCCCCCTTCTTGCTTGCCTGCTTTCATTCCCCAGACACACCCAGAGTGCCTGTCACATGACAGTACATTGGTCACACTCACAGCATTGTTACCCTTCTACTCTATTTCCTTCCCTTTCTTTATTGGG
|
TATTATGCTTTCCCTGCTTTCTTAAGAAGGAAAGAGGGCTTTAATTTAATTGGGAGTAGTCTCCTAGTACTTTGTTTGCATCTACGAGATGTTTGAAAGTTTTATCAGGTGTGGCTCTTCTGGCATTTTCGTAATGTCCAGAGGGCAGGGCTTGACTTTTTCAAGAAACAGGGTCTTTAGGAGCTGCTGGTTGGGAGAGAACTTTTCTGTACTTCCAGGGAGCTGAGGGTGCCCAGCATCTTTCAGCTTGTAAAGAAATGAGAGGACTCCACCACACCACCTGGCCAGCCTGGGAGGTTCTGTTTCTCAACCAAGATGGCCCCTCTACCTGGAGAAACCAGGCAGGTGGGAGGCACTGGCTGAGTGACCCCTCCACAATAGGCTCCTGGACAGGAAAGTGCTCTTTGTCCCTACAGATGGATGACTCTCTTCCACCACCTAGAGGCCCCAGCTGGTCTGGCCTCAAGAAGCTCTTTCTGCCTCCAGGTGGCACCAACAGGGAGAAGGTGGCACCAACAGGGAGAAGGTGGCACCAGACAAAGCACACAGCCCACGAAGGCTCTAAAATTATTGTTGGAACTACAGCCCACCAATCTACCTGGCAGAGTCATCAGTGCATTCATTCTGTAGGCCAGGATCTACAAACTACATTTAAACAGGGTAACATTGAAAATGTAGGTAGGACTCAAGTCTGCAAACATGAGAGCCACATTGTCCAGGATACAATTGAAAATCACTTGTCATACCAAGAGCTAGGAGCATCACAATTTTAATGAGAAAAGATAATCAACTGATGCCAACACCAACATGAATCAGGAGTTGGAATTATTAATATCTGACAAGGATTATAAAGCAGCCATCATAAGAATGCTTCAATGAGCAATTGCAAATCCTCTTGAAACAAAGGAAGAGCTGCAGAACCACATAGAGACCCAGATGTACCATTGAACGTGAGTGGCCCGGCCAGCTTCATAAGGGCGATGTCATTGCCCAGCCTCTTTGGCTTGTACTTGCTGTGGTAGACAATCTTCTCCACCAAGTGGGATGGGGCTGGATTGTCCAACAGGGAAACTAGACCCACCTGGATGGTCCATGACTTGGGGAGGTACAAGCTGAAATGAGAAGAGCAAGAGGTGAAGCACAGGAAAAGTCCAACCACTGAACTCATTGACCTCAGGTATCCTGAAAACCTAGGAAGATGGTGGGAGAGGTTATCAGGCAAGATGTGGTCCCATCACCCTGCTTGTTTATGCTGTATATGCAACTGCACTGCCACGCCCTACAGAAACACAGACCCACACCCCATGTGTTTCCCAGACCTCACTCTCAGCACCTCTGAGGTCGTCTTGGCATTTGAGGGCTGAACTCAACATTGGTCACTGCAAGGAGTCTATCAGGCACTACTGTTCATCAAACAGCAACAAAATAGGGGGTAAAAATATCAGGGAGAACCATTGTGTTTGGAAGTCTTTTCTGTAGTTTTCTTGCACTCTAAACTCCTGAGATTTTAAGAAGAGACCCAGTACCTGGCCCCCAACATATTCCCTCTAGCCTCCCGCACCACCGTCTCACCCTGTCTCTGCCATAACATGGTCCACTGGAATTAGCTATGGGAAGGTCTAGGTCCTTTCATTTTTGTGGGTTTCCTCCAGCACAGGAGCTTCCTTCCTCTTCTGTCTGCCCTTTCTCTAGGAGCTACAATCCTTAAAACAAGCTCAGGGTCACAAGTTACCCCCAGCTGATGATGATGGGTCCACAGTGAGGCTGGAGACTCCTCTCCAACTGTACATTACTTGGAGGTTAGTCTCTCTGTCTTCCCTCTGGACCCGCTTCTCACCACCCAAAGCAGCCCCACCCTGACATGACCCAGGAGTGAACAGGGGTCTGGGAAGATGGTCAGCAGCACTCACTCATAAACACAGTGTGCAGCAGTGATGATCCACAGGGGCGTGATGACAGAGCCCCCGCACAGGTGGTAGCCCTGGAACTGAAGGCTGGCCTGCCAGGGCCACTGCGAGAGCAAGGACATGTTTCCACCCACGATGCGTGGCTGTAGCCCCTTCTATGACCACAGGCTATGGAGGGGAACAAAGGCTTGTGGGTCCACCCTGCAGACTTCTTTGGGGGACATGGTGTCACCACCATGCACCTGCTCCTCTCTCCCCACCCTCACTGCCCCTGCTCCCAGAGCTCACAGCAGCTCTAAGACAAGTGCTGCAAGGGGGAGCTCAGCAGGGGAGGTGGTCAGGCTCTTGGGGAGACCTGAGGATGGTGGGTGCTGTGGAGGATGCGGTGGGAAAAGCACCTGCCCTGCTTGGTCAGTGCCCAGCATTGGCAGCACCACTCCCCATCCTATTCCCCCAGTGATGACAACACCCTGGGATGTCAGGAGCAGGCAGGAACCTTCTGCAGCCCCCTCCTCACTGCCGCTGGTGCACGCACCTCCCTGACTGCTCCAGACCCCACCCTTGTGGTGTGAACACTCCCCTCTGCCAGGAACGAGGGGCACTGCCCGAGGCCTGGAGTGGGCACTGTGCACGTGTAAGGAGGAAGTGGGAACTGAGTCAGGGACTCAAGGCTCTTCAGAGTGATGGGACATCATGGGCCTTGGTCCTGTCCGCTGCTAATGAGTTGCTCTGGCTGTCTCCCCCACCTGACAGGTGAGGCCGACAGGTGAGGATGACACTGCTCCCCTCCTCCAGCAGGTAGGGGTACACAGAGTTCCCGCCTGGCACCCAGGAGGAAGGGATACAGAGCCCCATGGGGGGAGAGGACTCTGAGGGCAAGGAGATAGGACTTAGCATGTGCTTGCTCCCCCTGGACCCCTGCCTTTCTGGAACTCTTACCTGTGCACTGCAAGGTAACCACGTGGCCAGAGGCACATCCCTCCCTAAAGCGGAGAAAAAGTAGGCTCTGTGAAAAATGCCCCAGATCTGTGAAAGGAACACTCTTAAAAACTCAATCTTAGGGTAACAGAAAAATAAATTCTATTTCCCCCTCTTTGAATATAGATTACAATTTTAGTCTATGTTCAAAAAAAAAAAAAACCATGAGGATGAGGTCACACAATTCATTGTAAAACACTCAACTAACAGTGAAGTATTGTGTACACAACAGGCCGTTCTGTATTTCTAAGCTTTAGATAGCTAGTGATAAAGGATGTGTAAGGAGATATATTCTATCAACATGTCACGCTGTCATTGCATGGCGATTCAGCCCAATGTTCTCCACCTCCTGGCCCCTAGGGACACAAGAGTGCCCAAGGGACAGCGTGGCAAGCTCTCTAGGACTCCTTGTAGCCTGGGTTCACACATCTGGCAGAGGACTCCTTCCCCAGAGCAATAAAGTGTGATTGCCCCAAAATTGACACTCCTACCCCCACCCCCACACACAGGTGGAGACCAGGGTGTGTGCTTTTCTCATAGTGAAGGGAAAGGGATCCCAAAATCTTTGTAATGTTTTCTGCCTTTTGAGCCCCAGCTCATCATGCAAGAGAAAGCTAGTGTCACCAGACTGTGGATTTAGCACCCAACACATGAGCTGTCCCTCCAGACTGCAGGTGGGTCCCGGGGTGCTTATTCATCCCCGACGGACAGACCAACAAGCCTACTGTTCCCAGAGCAGAAAATGCACATCTTAGGGTTTGGGCCTAGATGTCAGGGAGAGAATATGGAATTGGATTCAGAACTCTTGGCTGTATCTGCTACACACCGTCTAACCTGGGGCAAGGCATGTGGTCCCTGTAAGTTTCAGTTACCTGGTGGTTATTTAAGAACACCTGGTTTTACCTTCCCCATGAGTTGTTGGGGAAAACATGTAAAATAAATAATGAATGCTAAAATACTTCGTAAACAAAGAAGGATAAATTTCTATCTTAATTTCTGTTTTTCTTCCTTTTACCCTCCCTCTCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCTTTTCCTCCCCACCCCCCTTCTTGCTTGCCTGCTTTCATTCCCCAGACACACCCAGAGTGCCTGTCACATGACAGTACATTGGTCACACTCACAGCATTGTTACCCTTCTACTCTATTTCCTTCCCTTTCTTTATTGGGN
|
pathogenic
| 319,201 |
Regarding the variant found on chromosome 21 at position 42383199 in gene TMPRSS3 (transmembrane serine protease 3): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
benign
|
GGAAAGAGGGCTTTAATTTAATTGGGAGTAGTCTCCTAGTACTTTGTTTGCATCTACGAGATGTTTGAAAGTTTTATCAGGTGTGGCTCTTCTGGCATTTTCGTAATGTCCAGAGGGCAGGGCTTGACTTTTTCAAGAAACAGGGTCTTTAGGAGCTGCTGGTTGGGAGAGAACTTTTCTGTACTTCCAGGGAGCTGAGGGTGCCCAGCATCTTTCAGCTTGTAAAGAAATGAGAGGACTCCACCACACCACCTGGCCAGCCTGGGAGGTTCTGTTTCTCAACCAAGATGGCCCCTCTACCTGGAGAAACCAGGCAGGTGGGAGGCACTGGCTGAGTGACCCCTCCACAATAGGCTCCTGGACAGGAAAGTGCTCTTTGTCCCTACAGATGGATGACTCTCTTCCACCACCTAGAGGCCCCAGCTGGTCTGGCCTCAAGAAGCTCTTTCTGCCTCCAGGTGGCACCAACAGGGAGAAGGTGGCACCAACAGGGAGAAGGTGGCACCAGACAAAGCACACAGCCCACGAAGGCTCTAAAATTATTGTTGGAACTACAGCCCACCAATCTACCTGGCAGAGTCATCAGTGCATTCATTCTGTAGGCCAGGATCTACAAACTACATTTAAACAGGGTAACATTGAAAATGTAGGTAGGACTCAAGTCTGCAAACATGAGAGCCACATTGTCCAGGATACAATTGAAAATCACTTGTCATACCAAGAGCTAGGAGCATCACAATTTTAATGAGAAAAGATAATCAACTGATGCCAACACCAACATGAATCAGGAGTTGGAATTATTAATATCTGACAAGGATTATAAAGCAGCCATCATAAGAATGCTTCAATGAGCAATTGCAAATCCTCTTGAAACAAAGGAAGAGCTGCAGAACCACATAGAGACCCAGATGTACCATTGAACGTGAGTGGCCCGGCCAGCTTCATAAGGGCGATGTCATTGCCCAGCCTCTTTGGCTTGTACTTGCTGTGGTAGACAATCTTCTCCACCAAGTGGGATGGGGCTGGATTGTCCAACAGGGAAACTAGACCCACCTGGATGGTCCATGACTTGGGGAGGTACAAGCTGAAATGAGAAGAGCAAGAGGTGAAGCACAGGAAAAGTCCAACCACTGAACTCATTGACCTCAGGTATCCTGAAAACCTAGGAAGATGGTGGGAGAGGTTATCAGGCAAGATGTGGTCCCATCACCCTGCTTGTTTATGCTGTATATGCAACTGCACTGCCACGCCCTACAGAAACACAGACCCACACCCCATGTGTTTCCCAGACCTCACTCTCAGCACCTCTGAGGTCGTCTTGGCATTTGAGGGCTGAACTCAACATTGGTCACTGCAAGGAGTCTATCAGGCACTACTGTTCATCAAACAGCAACAAAATAGGGGGTAAAAATATCAGGGAGAACCATTGTGTTTGGAAGTCTTTTCTGTAGTTTTCTTGCACTCTAAACTCCTGAGATTTTAAGAAGAGACCCAGTACCTGGCCCCCAACATATTCCCTCTAGCCTCCCGCACCACCGTCTCACCCTGTCTCTGCCATAACATGGTCCACTGGAATTAGCTATGGGAAGGTCTAGGTCCTTTCATTTTTGTGGGTTTCCTCCAGCACAGGAGCTTCCTTCCTCTTCTGTCTGCCCTTTCTCTAGGAGCTACAATCCTTAAAACAAGCTCAGGGTCACAAGTTACCCCCAGCTGATGATGATGGGTCCACAGTGAGGCTGGAGACTCCTCTCCAACTGTACATTACTTGGAGGTTAGTCTCTCTGTCTTCCCTCTGGACCCGCTTCTCACCACCCAAAGCAGCCCCACCCTGACATGACCCAGGAGTGAACAGGGGTCTGGGAAGATGGTCAGCAGCACTCACTCATAAACACAGTGTGCAGCAGTGATGATCCACAGGGGCGTGATGACAGAGCCCCCGCACAGGTGGTAGCCCTGGAACTGAAGGCTGGCCTGCCAGGGCCACTGCGAGAGCAAGGACATGTTTCCACCCACGATGCGTGAGCTGTAGCCCCTTCTATGACCACAGGCTATGGAGGGGAACAAAGGCTTGTGGGTCCACCCTGCAGACTTCTTTGGGGGACATGGTGTCACCACCATGCACCTGCTCCTCTCTCCCCACCCTCACTGCCCCTGCTCCCAGAGCTCACAGCAGCTCTAAGACAAGTGCTGCAAGGGGGAGCTCAGCAGGGGAGGTGGTCAGGCTCTTGGGGAGACCTGAGGATGGTGGGTGCTGTGGAGGATGCGGTGGGAAAAGCACCTGCCCTGCTTGGTCAGTGCCCAGCATTGGCAGCACCACTCCCCATCCTATTCCCCCAGTGATGACAACACCCTGGGATGTCAGGAGCAGGCAGGAACCTTCTGCAGCCCCCTCCTCACTGCCGCTGGTGCACGCACCTCCCTGACTGCTCCAGACCCCACCCTTGTGGTGTGAACACTCCCCTCTGCCAGGAACGAGGGGCACTGCCCGAGGCCTGGAGTGGGCACTGTGCACGTGTAAGGAGGAAGTGGGAACTGAGTCAGGGACTCAAGGCTCTTCAGAGTGATGGGACATCATGGGCCTTGGTCCTGTCCGCTGCTAATGAGTTGCTCTGGCTGTCTCCCCCACCTGACAGGTGAGGCCGACAGGTGAGGATGACACTGCTCCCCTCCTCCAGCAGGTAGGGGTACACAGAGTTCCCGCCTGGCACCCAGGAGGAAGGGATACAGAGCCCCATGGGGGGAGAGGACTCTGAGGGCAAGGAGATAGGACTTAGCATGTGCTTGCTCCCCCTGGACCCCTGCCTTTCTGGAACTCTTACCTGTGCACTGCAAGGTAACCACGTGGCCAGAGGCACATCCCTCCCTAAAGCGGAGAAAAAGTAGGCTCTGTGAAAAATGCCCCAGATCTGTGAAAGGAACACTCTTAAAAACTCAATCTTAGGGTAACAGAAAAATAAATTCTATTTCCCCCTCTTTGAATATAGATTACAATTTTAGTCTATGTTCAAAAAAAAAAAAAACCATGAGGATGAGGTCACACAATTCATTGTAAAACACTCAACTAACAGTGAAGTATTGTGTACACAACAGGCCGTTCTGTATTTCTAAGCTTTAGATAGCTAGTGATAAAGGATGTGTAAGGAGATATATTCTATCAACATGTCACGCTGTCATTGCATGGCGATTCAGCCCAATGTTCTCCACCTCCTGGCCCCTAGGGACACAAGAGTGCCCAAGGGACAGCGTGGCAAGCTCTCTAGGACTCCTTGTAGCCTGGGTTCACACATCTGGCAGAGGACTCCTTCCCCAGAGCAATAAAGTGTGATTGCCCCAAAATTGACACTCCTACCCCCACCCCCACACACAGGTGGAGACCAGGGTGTGTGCTTTTCTCATAGTGAAGGGAAAGGGATCCCAAAATCTTTGTAATGTTTTCTGCCTTTTGAGCCCCAGCTCATCATGCAAGAGAAAGCTAGTGTCACCAGACTGTGGATTTAGCACCCAACACATGAGCTGTCCCTCCAGACTGCAGGTGGGTCCCGGGGTGCTTATTCATCCCCGACGGACAGACCAACAAGCCTACTGTTCCCAGAGCAGAAAATGCACATCTTAGGGTTTGGGCCTAGATGTCAGGGAGAGAATATGGAATTGGATTCAGAACTCTTGGCTGTATCTGCTACACACCGTCTAACCTGGGGCAAGGCATGTGGTCCCTGTAAGTTTCAGTTACCTGGTGGTTATTTAAGAACACCTGGTTTTACCTTCCCCATGAGTTGTTGGGGAAAACATGTAAAATAAATAATGAATGCTAAAATACTTCGTAAACAAAGAAGGATAAATTTCTATCTTAATTTCTGTTTTTCTTCCTTTTACCCTCCCTCTCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCTTTTCCTCCCCACCCCCCTTCTTGCTTGCCTGCTTTCATTCCCCAGACACACCCAGAGTGCCTGTCACATGACAGTACATTGGTCACACTCACAGCATTGTTACCCTTCTACTCTATTTCCTTCCCTTTCTTTATTGGGCCATACTCCCTCAGGTTCTCACACCCCC
|
GGAAAGAGGGCTTTAATTTAATTGGGAGTAGTCTCCTAGTACTTTGTTTGCATCTACGAGATGTTTGAAAGTTTTATCAGGTGTGGCTCTTCTGGCATTTTCGTAATGTCCAGAGGGCAGGGCTTGACTTTTTCAAGAAACAGGGTCTTTAGGAGCTGCTGGTTGGGAGAGAACTTTTCTGTACTTCCAGGGAGCTGAGGGTGCCCAGCATCTTTCAGCTTGTAAAGAAATGAGAGGACTCCACCACACCACCTGGCCAGCCTGGGAGGTTCTGTTTCTCAACCAAGATGGCCCCTCTACCTGGAGAAACCAGGCAGGTGGGAGGCACTGGCTGAGTGACCCCTCCACAATAGGCTCCTGGACAGGAAAGTGCTCTTTGTCCCTACAGATGGATGACTCTCTTCCACCACCTAGAGGCCCCAGCTGGTCTGGCCTCAAGAAGCTCTTTCTGCCTCCAGGTGGCACCAACAGGGAGAAGGTGGCACCAACAGGGAGAAGGTGGCACCAGACAAAGCACACAGCCCACGAAGGCTCTAAAATTATTGTTGGAACTACAGCCCACCAATCTACCTGGCAGAGTCATCAGTGCATTCATTCTGTAGGCCAGGATCTACAAACTACATTTAAACAGGGTAACATTGAAAATGTAGGTAGGACTCAAGTCTGCAAACATGAGAGCCACATTGTCCAGGATACAATTGAAAATCACTTGTCATACCAAGAGCTAGGAGCATCACAATTTTAATGAGAAAAGATAATCAACTGATGCCAACACCAACATGAATCAGGAGTTGGAATTATTAATATCTGACAAGGATTATAAAGCAGCCATCATAAGAATGCTTCAATGAGCAATTGCAAATCCTCTTGAAACAAAGGAAGAGCTGCAGAACCACATAGAGACCCAGATGTACCATTGAACGTGAGTGGCCCGGCCAGCTTCATAAGGGCGATGTCATTGCCCAGCCTCTTTGGCTTGTACTTGCTGTGGTAGACAATCTTCTCCACCAAGTGGGATGGGGCTGGATTGTCCAACAGGGAAACTAGACCCACCTGGATGGTCCATGACTTGGGGAGGTACAAGCTGAAATGAGAAGAGCAAGAGGTGAAGCACAGGAAAAGTCCAACCACTGAACTCATTGACCTCAGGTATCCTGAAAACCTAGGAAGATGGTGGGAGAGGTTATCAGGCAAGATGTGGTCCCATCACCCTGCTTGTTTATGCTGTATATGCAACTGCACTGCCACGCCCTACAGAAACACAGACCCACACCCCATGTGTTTCCCAGACCTCACTCTCAGCACCTCTGAGGTCGTCTTGGCATTTGAGGGCTGAACTCAACATTGGTCACTGCAAGGAGTCTATCAGGCACTACTGTTCATCAAACAGCAACAAAATAGGGGGTAAAAATATCAGGGAGAACCATTGTGTTTGGAAGTCTTTTCTGTAGTTTTCTTGCACTCTAAACTCCTGAGATTTTAAGAAGAGACCCAGTACCTGGCCCCCAACATATTCCCTCTAGCCTCCCGCACCACCGTCTCACCCTGTCTCTGCCATAACATGGTCCACTGGAATTAGCTATGGGAAGGTCTAGGTCCTTTCATTTTTGTGGGTTTCCTCCAGCACAGGAGCTTCCTTCCTCTTCTGTCTGCCCTTTCTCTAGGAGCTACAATCCTTAAAACAAGCTCAGGGTCACAAGTTACCCCCAGCTGATGATGATGGGTCCACAGTGAGGCTGGAGACTCCTCTCCAACTGTACATTACTTGGAGGTTAGTCTCTCTGTCTTCCCTCTGGACCCGCTTCTCACCACCCAAAGCAGCCCCACCCTGACATGACCCAGGAGTGAACAGGGGTCTGGGAAGATGGTCAGCAGCACTCACTCATAAACACAGTGTGCAGCAGTGATGATCCACAGGGGCGTGATGACAGAGCCCCCGCACAGGTGGTAGCCCTGGAACTGAAGGCTGGCCTGCCAGGGCCACTGCGAGAGCAAGGACATGTTTCCACCCACGATGCGTGAGCTGTAGCCCCTTCTATGACCACAGGCTATATGGAGGGGAACAAAGGCTTGTGGGTCCACCCTGCAGACTTCTTTGGGGGACATGGTGTCACCACCATGCACCTGCTCCTCTCTCCCCACCCTCACTGCCCCTGCTCCCAGAGCTCACAGCAGCTCTAAGACAAGTGCTGCAAGGGGGAGCTCAGCAGGGGAGGTGGTCAGGCTCTTGGGGAGACCTGAGGATGGTGGGTGCTGTGGAGGATGCGGTGGGAAAAGCACCTGCCCTGCTTGGTCAGTGCCCAGCATTGGCAGCACCACTCCCCATCCTATTCCCCCAGTGATGACAACACCCTGGGATGTCAGGAGCAGGCAGGAACCTTCTGCAGCCCCCTCCTCACTGCCGCTGGTGCACGCACCTCCCTGACTGCTCCAGACCCCACCCTTGTGGTGTGAACACTCCCCTCTGCCAGGAACGAGGGGCACTGCCCGAGGCCTGGAGTGGGCACTGTGCACGTGTAAGGAGGAAGTGGGAACTGAGTCAGGGACTCAAGGCTCTTCAGAGTGATGGGACATCATGGGCCTTGGTCCTGTCCGCTGCTAATGAGTTGCTCTGGCTGTCTCCCCCACCTGACAGGTGAGGCCGACAGGTGAGGATGACACTGCTCCCCTCCTCCAGCAGGTAGGGGTACACAGAGTTCCCGCCTGGCACCCAGGAGGAAGGGATACAGAGCCCCATGGGGGGAGAGGACTCTGAGGGCAAGGAGATAGGACTTAGCATGTGCTTGCTCCCCCTGGACCCCTGCCTTTCTGGAACTCTTACCTGTGCACTGCAAGGTAACCACGTGGCCAGAGGCACATCCCTCCCTAAAGCGGAGAAAAAGTAGGCTCTGTGAAAAATGCCCCAGATCTGTGAAAGGAACACTCTTAAAAACTCAATCTTAGGGTAACAGAAAAATAAATTCTATTTCCCCCTCTTTGAATATAGATTACAATTTTAGTCTATGTTCAAAAAAAAAAAAAACCATGAGGATGAGGTCACACAATTCATTGTAAAACACTCAACTAACAGTGAAGTATTGTGTACACAACAGGCCGTTCTGTATTTCTAAGCTTTAGATAGCTAGTGATAAAGGATGTGTAAGGAGATATATTCTATCAACATGTCACGCTGTCATTGCATGGCGATTCAGCCCAATGTTCTCCACCTCCTGGCCCCTAGGGACACAAGAGTGCCCAAGGGACAGCGTGGCAAGCTCTCTAGGACTCCTTGTAGCCTGGGTTCACACATCTGGCAGAGGACTCCTTCCCCAGAGCAATAAAGTGTGATTGCCCCAAAATTGACACTCCTACCCCCACCCCCACACACAGGTGGAGACCAGGGTGTGTGCTTTTCTCATAGTGAAGGGAAAGGGATCCCAAAATCTTTGTAATGTTTTCTGCCTTTTGAGCCCCAGCTCATCATGCAAGAGAAAGCTAGTGTCACCAGACTGTGGATTTAGCACCCAACACATGAGCTGTCCCTCCAGACTGCAGGTGGGTCCCGGGGTGCTTATTCATCCCCGACGGACAGACCAACAAGCCTACTGTTCCCAGAGCAGAAAATGCACATCTTAGGGTTTGGGCCTAGATGTCAGGGAGAGAATATGGAATTGGATTCAGAACTCTTGGCTGTATCTGCTACACACCGTCTAACCTGGGGCAAGGCATGTGGTCCCTGTAAGTTTCAGTTACCTGGTGGTTATTTAAGAACACCTGGTTTTACCTTCCCCATGAGTTGTTGGGGAAAACATGTAAAATAAATAATGAATGCTAAAATACTTCGTAAACAAAGAAGGATAAATTTCTATCTTAATTTCTGTTTTTCTTCCTTTTACCCTCCCTCTCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCTTTTCCTCCCCACCCCCCTTCTTGCTTGCCTGCTTTCATTCCCCAGACACACCCAGAGTGCCTGTCACATGACAGTACATTGGTCACACTCACAGCATTGTTACCCTTCTACTCTATTTCCTTCCCTTTCTTTATTGGGCCATACTCCCTCAGGTTCTCACACCC
|
benign
| 319,202 |
Evaluate if the mutation on chromosome 21 at position 42384006 in TMPRSS3 (transmembrane serine protease 3) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_8', 'Hearing_impairment', 'Rare_genetic_deafness']
|
CTGACAAGGATTATAAAGCAGCCATCATAAGAATGCTTCAATGAGCAATTGCAAATCCTCTTGAAACAAAGGAAGAGCTGCAGAACCACATAGAGACCCAGATGTACCATTGAACGTGAGTGGCCCGGCCAGCTTCATAAGGGCGATGTCATTGCCCAGCCTCTTTGGCTTGTACTTGCTGTGGTAGACAATCTTCTCCACCAAGTGGGATGGGGCTGGATTGTCCAACAGGGAAACTAGACCCACCTGGATGGTCCATGACTTGGGGAGGTACAAGCTGAAATGAGAAGAGCAAGAGGTGAAGCACAGGAAAAGTCCAACCACTGAACTCATTGACCTCAGGTATCCTGAAAACCTAGGAAGATGGTGGGAGAGGTTATCAGGCAAGATGTGGTCCCATCACCCTGCTTGTTTATGCTGTATATGCAACTGCACTGCCACGCCCTACAGAAACACAGACCCACACCCCATGTGTTTCCCAGACCTCACTCTCAGCACCTCTGAGGTCGTCTTGGCATTTGAGGGCTGAACTCAACATTGGTCACTGCAAGGAGTCTATCAGGCACTACTGTTCATCAAACAGCAACAAAATAGGGGGTAAAAATATCAGGGAGAACCATTGTGTTTGGAAGTCTTTTCTGTAGTTTTCTTGCACTCTAAACTCCTGAGATTTTAAGAAGAGACCCAGTACCTGGCCCCCAACATATTCCCTCTAGCCTCCCGCACCACCGTCTCACCCTGTCTCTGCCATAACATGGTCCACTGGAATTAGCTATGGGAAGGTCTAGGTCCTTTCATTTTTGTGGGTTTCCTCCAGCACAGGAGCTTCCTTCCTCTTCTGTCTGCCCTTTCTCTAGGAGCTACAATCCTTAAAACAAGCTCAGGGTCACAAGTTACCCCCAGCTGATGATGATGGGTCCACAGTGAGGCTGGAGACTCCTCTCCAACTGTACATTACTTGGAGGTTAGTCTCTCTGTCTTCCCTCTGGACCCGCTTCTCACCACCCAAAGCAGCCCCACCCTGACATGACCCAGGAGTGAACAGGGGTCTGGGAAGATGGTCAGCAGCACTCACTCATAAACACAGTGTGCAGCAGTGATGATCCACAGGGGCGTGATGACAGAGCCCCCGCACAGGTGGTAGCCCTGGAACTGAAGGCTGGCCTGCCAGGGCCACTGCGAGAGCAAGGACATGTTTCCACCCACGATGCGTGAGCTGTAGCCCCTTCTATGACCACAGGCTATGGAGGGGAACAAAGGCTTGTGGGTCCACCCTGCAGACTTCTTTGGGGGACATGGTGTCACCACCATGCACCTGCTCCTCTCTCCCCACCCTCACTGCCCCTGCTCCCAGAGCTCACAGCAGCTCTAAGACAAGTGCTGCAAGGGGGAGCTCAGCAGGGGAGGTGGTCAGGCTCTTGGGGAGACCTGAGGATGGTGGGTGCTGTGGAGGATGCGGTGGGAAAAGCACCTGCCCTGCTTGGTCAGTGCCCAGCATTGGCAGCACCACTCCCCATCCTATTCCCCCAGTGATGACAACACCCTGGGATGTCAGGAGCAGGCAGGAACCTTCTGCAGCCCCCTCCTCACTGCCGCTGGTGCACGCACCTCCCTGACTGCTCCAGACCCCACCCTTGTGGTGTGAACACTCCCCTCTGCCAGGAACGAGGGGCACTGCCCGAGGCCTGGAGTGGGCACTGTGCACGTGTAAGGAGGAAGTGGGAACTGAGTCAGGGACTCAAGGCTCTTCAGAGTGATGGGACATCATGGGCCTTGGTCCTGTCCGCTGCTAATGAGTTGCTCTGGCTGTCTCCCCCACCTGACAGGTGAGGCCGACAGGTGAGGATGACACTGCTCCCCTCCTCCAGCAGGTAGGGGTACACAGAGTTCCCGCCTGGCACCCAGGAGGAAGGGATACAGAGCCCCATGGGGGGAGAGGACTCTGAGGGCAAGGAGATAGGACTTAGCATGTGCTTGCTCCCCCTGGACCCCTGCCTTTCTGGAACTCTTACCTGTGCACTGCAAGGTAACCACGTGGCCAGAGGCACATCCCTCCCTAAAGCGGAGAAAAAGTAGGCTCTGTGAAAAATGCCCCAGATCTGTGAAAGGAACACTCTTAAAAACTCAATCTTAGGGTAACAGAAAAATAAATTCTATTTCCCCCTCTTTGAATATAGATTACAATTTTAGTCTATGTTCAAAAAAAAAAAAAACCATGAGGATGAGGTCACACAATTCATTGTAAAACACTCAACTAACAGTGAAGTATTGTGTACACAACAGGCCGTTCTGTATTTCTAAGCTTTAGATAGCTAGTGATAAAGGATGTGTAAGGAGATATATTCTATCAACATGTCACGCTGTCATTGCATGGCGATTCAGCCCAATGTTCTCCACCTCCTGGCCCCTAGGGACACAAGAGTGCCCAAGGGACAGCGTGGCAAGCTCTCTAGGACTCCTTGTAGCCTGGGTTCACACATCTGGCAGAGGACTCCTTCCCCAGAGCAATAAAGTGTGATTGCCCCAAAATTGACACTCCTACCCCCACCCCCACACACAGGTGGAGACCAGGGTGTGTGCTTTTCTCATAGTGAAGGGAAAGGGATCCCAAAATCTTTGTAATGTTTTCTGCCTTTTGAGCCCCAGCTCATCATGCAAGAGAAAGCTAGTGTCACCAGACTGTGGATTTAGCACCCAACACATGAGCTGTCCCTCCAGACTGCAGGTGGGTCCCGGGGTGCTTATTCATCCCCGACGGACAGACCAACAAGCCTACTGTTCCCAGAGCAGAAAATGCACATCTTAGGGTTTGGGCCTAGATGTCAGGGAGAGAATATGGAATTGGATTCAGAACTCTTGGCTGTATCTGCTACACACCGTCTAACCTGGGGCAAGGCATGTGGTCCCTGTAAGTTTCAGTTACCTGGTGGTTATTTAAGAACACCTGGTTTTACCTTCCCCATGAGTTGTTGGGGAAAACATGTAAAATAAATAATGAATGCTAAAATACTTCGTAAACAAAGAAGGATAAATTTCTATCTTAATTTCTGTTTTTCTTCCTTTTACCCTCCCTCTCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCTTTTCCTCCCCACCCCCCTTCTTGCTTGCCTGCTTTCATTCCCCAGACACACCCAGAGTGCCTGTCACATGACAGTACATTGGTCACACTCACAGCATTGTTACCCTTCTACTCTATTTCCTTCCCTTTCTTTATTGGGCCATACTCCCTCAGGTTCTCACACCCCCAGCCTGGCGCATCCACCAGTCTCATCAAGGTGGCCAACTCCCACCTTCCATCTGAGATAACACATGCATGCCTCTTAAGTCCTTGTGGAGTTGTGCATAGCATCACAAATCCAGCAGGTGACTCGATACCTGTGCAGACAACAGCATCGCCTGACCACCTACCTCACATATACTGAGTGGTGTAATGCAGTCACCTTGTCATCTGGCAAGAGGTGATCGATGGACACAAACTCCTCCCGGAACTGCCCCTCCAGCGAGCTCACTCTGAGGTTATCTGAACTCACATAGCTGCAAGCACATTGGAAAGACAGACCCGACGTGGTAACTTTACACTTTGAAGCATTCAACCGATGTGCGAGTCACAATATTACAGGGATTGTACATGGGGGATGTCATTTTGTCCCCCCAAACCCATCAAAGGCTTCCTTTGCCAAGAGAATGAAGTTCACTCACCCTGGCAAGGCATTCAGTCCAGGCCTGCTGTGTTCTGGGATGACCCCCGCTTCTGGCCTGTACCTGACAGCCCCGTCCACCCACCCTGGGCTGCAGCCACACAGTGAGTGACCATCTCCTATGTCCTTGGTTGAGTCACTCTTTGCGCATTCCAGTGAAATGCCTTTTGCTTGGCCTGAAGCAAGTCCAGAGGGGAGGTGAGCACAAAACTAGGTGCAGTATTGTCGGGGGGCACCCAAGCAGGGACACCAAGTTCTCCAAGAACAGTGAGTTGGAGGAACAGGAGAGACATCCCTCACCTGCCCAGGACCAGCGCAGAGCCCCACTGGAAAGAGATGAACACAAACAAGAAAG
|
CTGACAAGGATTATAAAGCAGCCATCATAAGAATGCTTCAATGAGCAATTGCAAATCCTCTTGAAACAAAGGAAGAGCTGCAGAACCACATAGAGACCCAGATGTACCATTGAACGTGAGTGGCCCGGCCAGCTTCATAAGGGCGATGTCATTGCCCAGCCTCTTTGGCTTGTACTTGCTGTGGTAGACAATCTTCTCCACCAAGTGGGATGGGGCTGGATTGTCCAACAGGGAAACTAGACCCACCTGGATGGTCCATGACTTGGGGAGGTACAAGCTGAAATGAGAAGAGCAAGAGGTGAAGCACAGGAAAAGTCCAACCACTGAACTCATTGACCTCAGGTATCCTGAAAACCTAGGAAGATGGTGGGAGAGGTTATCAGGCAAGATGTGGTCCCATCACCCTGCTTGTTTATGCTGTATATGCAACTGCACTGCCACGCCCTACAGAAACACAGACCCACACCCCATGTGTTTCCCAGACCTCACTCTCAGCACCTCTGAGGTCGTCTTGGCATTTGAGGGCTGAACTCAACATTGGTCACTGCAAGGAGTCTATCAGGCACTACTGTTCATCAAACAGCAACAAAATAGGGGGTAAAAATATCAGGGAGAACCATTGTGTTTGGAAGTCTTTTCTGTAGTTTTCTTGCACTCTAAACTCCTGAGATTTTAAGAAGAGACCCAGTACCTGGCCCCCAACATATTCCCTCTAGCCTCCCGCACCACCGTCTCACCCTGTCTCTGCCATAACATGGTCCACTGGAATTAGCTATGGGAAGGTCTAGGTCCTTTCATTTTTGTGGGTTTCCTCCAGCACAGGAGCTTCCTTCCTCTTCTGTCTGCCCTTTCTCTAGGAGCTACAATCCTTAAAACAAGCTCAGGGTCACAAGTTACCCCCAGCTGATGATGATGGGTCCACAGTGAGGCTGGAGACTCCTCTCCAACTGTACATTACTTGGAGGTTAGTCTCTCTGTCTTCCCTCTGGACCCGCTTCTCACCACCCAAAGCAGCCCCACCCTGACATGACCCAGGAGTGAACAGGGGTCTGGGAAGATGGTCAGCAGCACTCACTCATAAACACAGTGTGCAGCAGTGATGATCCACAGGGGCGTGATGACAGAGCCCCCGCACAGGTGGTAGCCCTGGAACTGAAGGCTGGCCTGCCAGGGCCACTGCGAGAGCAAGGACATGTTTCCACCCACGATGCGTGAGCTGTAGCCCCTTCTATGACCACAGGCTATGGAGGGGAACAAAGGCTTGTGGGTCCACCCTGCAGACTTCTTTGGGGGACATGGTGTCACCACCATGCACCTGCTCCTCTCTCCCCACCCTCACTGCCCCTGCTCCCAGAGCTCACAGCAGCTCTAAGACAAGTGCTGCAAGGGGGAGCTCAGCAGGGGAGGTGGTCAGGCTCTTGGGGAGACCTGAGGATGGTGGGTGCTGTGGAGGATGCGGTGGGAAAAGCACCTGCCCTGCTTGGTCAGTGCCCAGCATTGGCAGCACCACTCCCCATCCTATTCCCCCAGTGATGACAACACCCTGGGATGTCAGGAGCAGGCAGGAACCTTCTGCAGCCCCCTCCTCACTGCCGCTGGTGCACGCACCTCCCTGACTGCTCCAGACCCCACCCTTGTGGTGTGAACACTCCCCTCTGCCAGGAACGAGGGGCACTGCCCGAGGCCTGGAGTGGGCACTGTGCACGTGTAAGGAGGAAGTGGGAACTGAGTCAGGGACTCAAGGCTCTTCAGAGTGATGGGACATCATGGGCCTTGGTCCTGTCCGCTGCTAATGAGTTGCTCTGGCTGTCTCCCCCACCTGACAGGTGAGGCCGACAGGTGAGGATGACACTGCTCCCCTCCTCCAGCAGGTAGGGGTACACAGAGTTCCCGCCTGGCACCCAGGAGGAAGGGATACAGAGCCCCATGGGGGGAGAGGACTCTGAGGGCAAGGAGATAGGACTTAGCATGTGCTTGCTCCCCCTGGACCCCTGCCTTTCTGGAACTCTTACCTGTGCACTGCAAGGTAACCACGTGGCCAGAGGCACATTCCCTCCCTAAAGCGGAGAAAAAGTAGGCTCTGTGAAAAATGCCCCAGATCTGTGAAAGGAACACTCTTAAAAACTCAATCTTAGGGTAACAGAAAAATAAATTCTATTTCCCCCTCTTTGAATATAGATTACAATTTTAGTCTATGTTCAAAAAAAAAAAAAACCATGAGGATGAGGTCACACAATTCATTGTAAAACACTCAACTAACAGTGAAGTATTGTGTACACAACAGGCCGTTCTGTATTTCTAAGCTTTAGATAGCTAGTGATAAAGGATGTGTAAGGAGATATATTCTATCAACATGTCACGCTGTCATTGCATGGCGATTCAGCCCAATGTTCTCCACCTCCTGGCCCCTAGGGACACAAGAGTGCCCAAGGGACAGCGTGGCAAGCTCTCTAGGACTCCTTGTAGCCTGGGTTCACACATCTGGCAGAGGACTCCTTCCCCAGAGCAATAAAGTGTGATTGCCCCAAAATTGACACTCCTACCCCCACCCCCACACACAGGTGGAGACCAGGGTGTGTGCTTTTCTCATAGTGAAGGGAAAGGGATCCCAAAATCTTTGTAATGTTTTCTGCCTTTTGAGCCCCAGCTCATCATGCAAGAGAAAGCTAGTGTCACCAGACTGTGGATTTAGCACCCAACACATGAGCTGTCCCTCCAGACTGCAGGTGGGTCCCGGGGTGCTTATTCATCCCCGACGGACAGACCAACAAGCCTACTGTTCCCAGAGCAGAAAATGCACATCTTAGGGTTTGGGCCTAGATGTCAGGGAGAGAATATGGAATTGGATTCAGAACTCTTGGCTGTATCTGCTACACACCGTCTAACCTGGGGCAAGGCATGTGGTCCCTGTAAGTTTCAGTTACCTGGTGGTTATTTAAGAACACCTGGTTTTACCTTCCCCATGAGTTGTTGGGGAAAACATGTAAAATAAATAATGAATGCTAAAATACTTCGTAAACAAAGAAGGATAAATTTCTATCTTAATTTCTGTTTTTCTTCCTTTTACCCTCCCTCTCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCTTTTCCTCCCCACCCCCCTTCTTGCTTGCCTGCTTTCATTCCCCAGACACACCCAGAGTGCCTGTCACATGACAGTACATTGGTCACACTCACAGCATTGTTACCCTTCTACTCTATTTCCTTCCCTTTCTTTATTGGGCCATACTCCCTCAGGTTCTCACACCCCCAGCCTGGCGCATCCACCAGTCTCATCAAGGTGGCCAACTCCCACCTTCCATCTGAGATAACACATGCATGCCTCTTAAGTCCTTGTGGAGTTGTGCATAGCATCACAAATCCAGCAGGTGACTCGATACCTGTGCAGACAACAGCATCGCCTGACCACCTACCTCACATATACTGAGTGGTGTAATGCAGTCACCTTGTCATCTGGCAAGAGGTGATCGATGGACACAAACTCCTCCCGGAACTGCCCCTCCAGCGAGCTCACTCTGAGGTTATCTGAACTCACATAGCTGCAAGCACATTGGAAAGACAGACCCGACGTGGTAACTTTACACTTTGAAGCATTCAACCGATGTGCGAGTCACAATATTACAGGGATTGTACATGGGGGATGTCATTTTGTCCCCCCAAACCCATCAAAGGCTTCCTTTGCCAAGAGAATGAAGTTCACTCACCCTGGCAAGGCATTCAGTCCAGGCCTGCTGTGTTCTGGGATGACCCCCGCTTCTGGCCTGTACCTGACAGCCCCGTCCACCCACCCTGGGCTGCAGCCACACAGTGAGTGACCATCTCCTATGTCCTTGGTTGAGTCACTCTTTGCGCATTCCAGTGAAATGCCTTTTGCTTGGCCTGAAGCAAGTCCAGAGGGGAGGTGAGCACAAAACTAGGTGCAGTATTGTCGGGGGGCACCCAAGCAGGGACACCAAGTTCTCCAAGAACAGTGAGTTGGAGGAACAGGAGAGACATCCCTCACCTGCCCAGGACCAGCGCAGAGCCCCACTGGAAAGAGATGAACACAAACAAGAAA
|
pathogenic
| 319,206 |
Variant on chromosome 21, at position 42388416, affecting TMPRSS3 (transmembrane serine protease 3): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_8']
|
CAAGGCGGCGGGCACGACCTTCGCAGCCCTTCCAGGGATTGCTCAATGCACGGATTCCGCTGGCACTGGCATGAAAGAGCCGATGGTTGCTGGGATGGCTTGGCCCCAGTGCAGGTGGCGGGGCTTGTGCCAGGCAAGGGGACCCCAGTGCTGCAACTGGAGCCCCATGAACTGTCCAAGTCTCAAAATGGTAACAATGACAGCCACAACCACACACTCGCCCAGTGTGCTCTTGCCCACCAAGCCCTTCCACACTCACAGCGTCAGCGGAACTTCAGTTCCCCTCCAAGTACGTGCTATTATCATCCCTCTTTTCTAAGAAAGGAAACTGAGGCATGAACTGTGTGTGGAACTTGCCTGAGTCTACACTGGGATTTGAACCCAAGCAATCTAGCTTGACCGTCCTTTGGTTATTTATTTATTTATTTATTTATTTATTTTTGAATCACAGATCTCTGACATAGGATGTAGTAGAGCAGAGAAGATTAAAGAAGGATTTTAAGGAGAATTTAAGAAAATAGAACAAAATGCAGAAATAAATCTTAGAAACTGAAGCAATGGATAGAGAACAAAAGAACAAGCCTATAGAGAAGAAAGTAGGCAATATTGGGGTGAGAGATGGGGGACATCGCATTCCCTGGATTTCCTTGTAGAGGGAGCATATTAAGGATGAGAAGGAATATTTTACCAAACGGGCTGGGGTGGAAGAGAGACGGGAAGGCTACCCCCACCATGAGTGGCCTCTACCTGATGCCTGGGACAGCTGGGGCTCCTGACTTGGGTCTGCTGGGTGGGGAAGGAGAGGGATTGAGCTGAGTTTTTCTGCATAACAGAGCAGAGAGGCCTTGGGGTTTGCTCAGACAGAGCGGTGGTCCTCCAGGACAGAGGAGGAGGGCAGAGAGAAGAGAAAAGGAGGCCCCCCAACACCCCCCACCCAATGAGTCAGAGGAAGAGGCTCAGCGGGGAAGAGAAATGCCCAATGGGGAAGCTCTCAGCTGTGTGCAGTGTGTGTGTGTGTGTGTGTGTGTGTACCTCTTCCTCCTTGTCTCTAAGGAGTAATACATCATTCCTGAAGACGTTAGTGTGGATGATTTTTGCTCTTCTCATTGAACTTGAATTGCAGCTCATTTCTGAATCTCAGTTGGTGTGGAGGGAGAGGGAGGCAGACCTCAGGGCTGGAGGCTGGAGGGCATTTTGGCTTCCACCAGCTTTGGGGAAAGACAGCCGAGAATATGATTCATGGAATTTGAAAACTGAGACTCTGTGGAGGACTCAGGGCAGTGTGGCTTTAACGACCCCATCTACTTGAGTGCAAAGCAGAATGCAGCCTGCCTGCTTTGAGTGCTGAGACTTGAGAGCAAAGGGGAGTAAGGAGGCTGCTAGGGGAACCCGTGGAAGTACAGCGGCCGCAGGAAGTCAGAAGGAAGGGGCCAGGGGAGAGAAGGAGGCCCATGCCTAGGCCAAAACTGTGTCACTCCAATGCAAAAAATCATGTAGGCAACACAAACACTAAAAAGTGAATAGTCAACTGTTATAGTTCTTTGTTCTACATGTTGCTAAACAAGTGTTTTGGATGATTGTGTCTTCACTAAATTTCTGACTTTCAACAATTGGTTCTGTGGGGTTCTTGGGGAAGCGTGCATGGACATTGATGTGACCGCCAGGACCAAGCAGGAAAGTGTCCAGGAAGCTACTCTAGGAGCTGCAAGCTGAGGAGCTGGAGGGTTTTTTGGTTTTGTTTTTGTTTTCTACTTTGAAACTTTTTATTGCATGTTCGTATCTCCGATCCTGGCCTGGCCCTGGGAACCCCCAAACATGCCACTTCCCATGTGCCTTGAGCAAGTCACTTAGCCTGTCTGGCCTTGGTTTGCTTGCCTGTGAAGTGAGGATGATATCGGGCATCCTAAGGTGGATGTGAGGATGTAATCTGAGAGCGTTAAAGCACCCAATAGTGCCCAACTAAATGGTAGTTGTCTTTCTTTATTGTTATCCTCTCTGTGTTTTGCCCATGGGTTGGAAATGCTCTTTAACTTACCTTGGGAAACCCAGTTGGGCACAGGCAACATTTGCGTAGTGACCCTTCCAGTCATCGGAGCACATGGTCTTCCACGAAGCAGCTGTGAACACCTGGAGCACGGCATTCTGACCACCCACCCGGACTGGCCGATGTGCAGAAAGAAAGGCTTATTAGTGGCCAGTGGAACCCTGAGACCATAGGCAGGGGTTTCTCCACAGCCAGCTCAAACCCCTCCTCTGCCAAATCTGACCCACTTCTTGTCCACGGCAGCCTCCCCATCACAGAGCAGTGACTCTGGATCCCTGAGACTTCTCGCTGGTCTCATCTTATTGCTTATGTGGTCTCCCCAAGAGAGCCAGAGCTCCATGGAAGGCCCTCCCTGACCCCCCAGCCCAACATGTCTTTGGGCAAACGCCAGTTCAATCCCAGCTGAAGACATGACCTAAAAATGGCAATGACTTGGACCCATTTTACAGATGGGAAGGGTCAGGGTTGGCTTCTGCTGCTTCCTTCTGTTTCCCCAGGGGAAGAGCCATGACCTTACCACAGCGGTACTCGTCCTCCCCGTCTTTGCAATCCGAGACTCCGTCACATCGAGCTATCAGCTCGATACACTTAAAGGATGAGCGACATCTGTACTTCCCTGAGCAGTCGAAGTGGACTGGGAAAAGGGAGGAAGGCAGGAATTAACCAACAGCTCTTTCAGAGTGCAACACTAACAACTGTCCCCCTGCCACACAGTGCGGAGCTGGCCCGTGAATAATGAAACCTGTATTGAAATTGCGTCCCTGTCAGCAGCCTGTTTCCTGCAGCCCAGTTTCTGTTTTGAATTCCAAGGGGTGGGGCTGCTGTGCCCCACTTTATCTCGCTATGTGGCCTGGCCCAGGAACCACAGTGCAAGGTGAATTTAGACTCTGGAGGTCTCAAGGTCAAGAGAGAAACTGCATGGCGGGGGGCCGACCTGCTGAGCCAGCCGAGCAAGGAGTCCTGACTGAGAACTGCTCGGCCTTCCTGGTTTCTCTTACCGAAGGCAGAAAGTGAACGAAGTGTGGACCACACAGTGGGGCAGGTGGCGAATTGAACTGACCTGTGATTCAGGTATTTGAAAGAAAAATTGTTCCCTATTAGAGACCCTCCATCCAAATGACCCACTTTCTCAAAAGCCACATGCACCTTATTGTAAAAACAGCTGGTGCGCCTGCATTGCATGAATAGGTCTCTTTGTCTTCTCCCCGCTGCCCCGGTCAGTGCCTCCCTCCCACCTGCAGGATTCTATTTCATCAGCTGCCTTTGGCCACTCCTAACCGGGCAGGTTCCTTGGTGACAAAGCCATGAGCATGGCCAGCAGCCCTTGCGGCACCCCAGACTGACTTTACATTCATGTGGGCAAATAAAACTTCAAGTCAGCAAACCAAAAGGATGTTTGCCTCCAGTAATTAAGGCTGGGCAGCAGCAAAATGCTGGGATGAGAGGGGGCGCTCATGAAAGTTTAACTACTTGGCTAGGTATTTGAGATCCTACTAAATAATGAATTGTACTCACTGCCCAGACCAATGGCCAGTGCTAATATCAATGCAATGATCCCAATGACGATGATTGGAAAAAACTTCAATGGCAGCAGTGACAGGATCTGTGCAGCAACAGCATCTGCATCTGAAAACCAGAAAAAGGAAGAGCAGAAAGCCACAGAACCTGACTTGGAGTGCCATGAAACTTACAAATTTAACTATCCTTTCCCCCTCCCCTCTTTGCAGAGAAGTCTCAGCCCAAAGAAAGGTGCCTTAATTAGGGAAAGGGCCACCCACCAAGGGGCACATTCTCTAGTTCAGTCCTACCTGCTCCACCTCTGACCCGGTTATTCCATGGGGGATGAGGGGATGTGCTATGGGTTGAATAGTATCCCCCAGAAAGACACGTTGAGGTCTTAACTCTTAGTACCTCAGAATGGCATCTTATTTGGAGATGGCCTGGAGAGTCTTTACAGAGTCATCTAGTTAAAATGAGTCATTAGGGTGGGCCCTAATCCAACGTGGCTGTTGCCCTTATAAAAAGGGGGAAAACAGCCGGGTGCAGTGGCTC
|
CAAGGCGGCGGGCACGACCTTCGCAGCCCTTCCAGGGATTGCTCAATGCACGGATTCCGCTGGCACTGGCATGAAAGAGCCGATGGTTGCTGGGATGGCTTGGCCCCAGTGCAGGTGGCGGGGCTTGTGCCAGGCAAGGGGACCCCAGTGCTGCAACTGGAGCCCCATGAACTGTCCAAGTCTCAAAATGGTAACAATGACAGCCACAACCACACACTCGCCCAGTGTGCTCTTGCCCACCAAGCCCTTCCACACTCACAGCGTCAGCGGAACTTCAGTTCCCCTCCAAGTACGTGCTATTATCATCCCTCTTTTCTAAGAAAGGAAACTGAGGCATGAACTGTGTGTGGAACTTGCCTGAGTCTACACTGGGATTTGAACCCAAGCAATCTAGCTTGACCGTCCTTTGGTTATTTATTTATTTATTTATTTATTTATTTTTGAATCACAGATCTCTGACATAGGATGTAGTAGAGCAGAGAAGATTAAAGAAGGATTTTAAGGAGAATTTAAGAAAATAGAACAAAATGCAGAAATAAATCTTAGAAACTGAAGCAATGGATAGAGAACAAAAGAACAAGCCTATAGAGAAGAAAGTAGGCAATATTGGGGTGAGAGATGGGGGACATCGCATTCCCTGGATTTCCTTGTAGAGGGAGCATATTAAGGATGAGAAGGAATATTTTACCAAACGGGCTGGGGTGGAAGAGAGACGGGAAGGCTACCCCCACCATGAGTGGCCTCTACCTGATGCCTGGGACAGCTGGGGCTCCTGACTTGGGTCTGCTGGGTGGGGAAGGAGAGGGATTGAGCTGAGTTTTTCTGCATAACAGAGCAGAGAGGCCTTGGGGTTTGCTCAGACAGAGCGGTGGTCCTCCAGGACAGAGGAGGAGGGCAGAGAGAAGAGAAAAGGAGGCCCCCCAACACCCCCCACCCAATGAGTCAGAGGAAGAGGCTCAGCGGGGAAGAGAAATGCCCAATGGGGAAGCTCTCAGCTGTGTGCAGTGTGTGTGTGTGTGTGTGTGTGTGTACCTCTTCCTCCTTGTCTCTAAGGAGTAATACATCATTCCTGAAGACGTTAGTGTGGATGATTTTTGCTCTTCTCATTGAACTTGAATTGCAGCTCATTTCTGAATCTCAGTTGGTGTGGAGGGAGAGGGAGGCAGACCTCAGGGCTGGAGGCTGGAGGGCATTTTGGCTTCCACCAGCTTTGGGGAAAGACAGCCGAGAATATGATTCATGGAATTTGAAAACTGAGACTCTGTGGAGGACTCAGGGCAGTGTGGCTTTAACGACCCCATCTACTTGAGTGCAAAGCAGAATGCAGCCTGCCTGCTTTGAGTGCTGAGACTTGAGAGCAAAGGGGAGTAAGGAGGCTGCTAGGGGAACCCGTGGAAGTACAGCGGCCGCAGGAAGTCAGAAGGAAGGGGCCAGGGGAGAGAAGGAGGCCCATGCCTAGGCCAAAACTGTGTCACTCCAATGCAAAAAATCATGTAGGCAACACAAACACTAAAAAGTGAATAGTCAACTGTTATAGTTCTTTGTTCTACATGTTGCTAAACAAGTGTTTTGGATGATTGTGTCTTCACTAAATTTCTGACTTTCAACAATTGGTTCTGTGGGGTTCTTGGGGAAGCGTGCATGGACATTGATGTGACCGCCAGGACCAAGCAGGAAAGTGTCCAGGAAGCTACTCTAGGAGCTGCAAGCTGAGGAGCTGGAGGGTTTTTTGGTTTTGTTTTTGTTTTCTACTTTGAAACTTTTTATTGCATGTTCGTATCTCCGATCCTGGCCTGGCCCTGGGAACCCCCAAACATGCCACTTCCCATGTGCCTTGAGCAAGTCACTTAGCCTGTCTGGCCTTGGTTTGCTTGCCTGTGAAGTGAGGATGATATCGGGCATCCTAAGGTGGATGTGAGGATGTAATCTGAGAGCGTTAAAGCACCCAATAGTGCCCAACTAAATGGTAGTTGTCTTTCTTTATTGTTATCCTCTCTGTGTTTTGCCCATGGGTTGGAAATGCTCTTTAACTTACCTTGGGAAACCCAGTGGGCACAGGCAACATTTGCGTAGTGACCCTTCCAGTCATCGGAGCACATGGTCTTCCACGAAGCAGCTGTGAACACCTGGAGCACGGCATTCTGACCACCCACCCGGACTGGCCGATGTGCAGAAAGAAAGGCTTATTAGTGGCCAGTGGAACCCTGAGACCATAGGCAGGGGTTTCTCCACAGCCAGCTCAAACCCCTCCTCTGCCAAATCTGACCCACTTCTTGTCCACGGCAGCCTCCCCATCACAGAGCAGTGACTCTGGATCCCTGAGACTTCTCGCTGGTCTCATCTTATTGCTTATGTGGTCTCCCCAAGAGAGCCAGAGCTCCATGGAAGGCCCTCCCTGACCCCCCAGCCCAACATGTCTTTGGGCAAACGCCAGTTCAATCCCAGCTGAAGACATGACCTAAAAATGGCAATGACTTGGACCCATTTTACAGATGGGAAGGGTCAGGGTTGGCTTCTGCTGCTTCCTTCTGTTTCCCCAGGGGAAGAGCCATGACCTTACCACAGCGGTACTCGTCCTCCCCGTCTTTGCAATCCGAGACTCCGTCACATCGAGCTATCAGCTCGATACACTTAAAGGATGAGCGACATCTGTACTTCCCTGAGCAGTCGAAGTGGACTGGGAAAAGGGAGGAAGGCAGGAATTAACCAACAGCTCTTTCAGAGTGCAACACTAACAACTGTCCCCCTGCCACACAGTGCGGAGCTGGCCCGTGAATAATGAAACCTGTATTGAAATTGCGTCCCTGTCAGCAGCCTGTTTCCTGCAGCCCAGTTTCTGTTTTGAATTCCAAGGGGTGGGGCTGCTGTGCCCCACTTTATCTCGCTATGTGGCCTGGCCCAGGAACCACAGTGCAAGGTGAATTTAGACTCTGGAGGTCTCAAGGTCAAGAGAGAAACTGCATGGCGGGGGGCCGACCTGCTGAGCCAGCCGAGCAAGGAGTCCTGACTGAGAACTGCTCGGCCTTCCTGGTTTCTCTTACCGAAGGCAGAAAGTGAACGAAGTGTGGACCACACAGTGGGGCAGGTGGCGAATTGAACTGACCTGTGATTCAGGTATTTGAAAGAAAAATTGTTCCCTATTAGAGACCCTCCATCCAAATGACCCACTTTCTCAAAAGCCACATGCACCTTATTGTAAAAACAGCTGGTGCGCCTGCATTGCATGAATAGGTCTCTTTGTCTTCTCCCCGCTGCCCCGGTCAGTGCCTCCCTCCCACCTGCAGGATTCTATTTCATCAGCTGCCTTTGGCCACTCCTAACCGGGCAGGTTCCTTGGTGACAAAGCCATGAGCATGGCCAGCAGCCCTTGCGGCACCCCAGACTGACTTTACATTCATGTGGGCAAATAAAACTTCAAGTCAGCAAACCAAAAGGATGTTTGCCTCCAGTAATTAAGGCTGGGCAGCAGCAAAATGCTGGGATGAGAGGGGGCGCTCATGAAAGTTTAACTACTTGGCTAGGTATTTGAGATCCTACTAAATAATGAATTGTACTCACTGCCCAGACCAATGGCCAGTGCTAATATCAATGCAATGATCCCAATGACGATGATTGGAAAAAACTTCAATGGCAGCAGTGACAGGATCTGTGCAGCAACAGCATCTGCATCTGAAAACCAGAAAAAGGAAGAGCAGAAAGCCACAGAACCTGACTTGGAGTGCCATGAAACTTACAAATTTAACTATCCTTTCCCCCTCCCCTCTTTGCAGAGAAGTCTCAGCCCAAAGAAAGGTGCCTTAATTAGGGAAAGGGCCACCCACCAAGGGGCACATTCTCTAGTTCAGTCCTACCTGCTCCACCTCTGACCCGGTTATTCCATGGGGGATGAGGGGATGTGCTATGGGTTGAATAGTATCCCCCAGAAAGACACGTTGAGGTCTTAACTCTTAGTACCTCAGAATGGCATCTTATTTGGAGATGGCCTGGAGAGTCTTTACAGAGTCATCTAGTTAAAATGAGTCATTAGGGTGGGCCCTAATCCAACGTGGCTGTTGCCCTTATAAAAAGGGGGAAAACAGCCGGGTGCAGTGGCTCN
|
pathogenic
| 319,215 |
Determine whether the variant at chromosome 21, position 42389042, in gene TMPRSS3 (transmembrane serine protease 3) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_8', 'Hearing_impairment', 'Inborn_genetic_diseases', 'Nonsyndromic_genetic_hearing_loss', 'Rare_genetic_deafness', 'TMPRSS3-related_disorder']
|
CATCGCATTCCCTGGATTTCCTTGTAGAGGGAGCATATTAAGGATGAGAAGGAATATTTTACCAAACGGGCTGGGGTGGAAGAGAGACGGGAAGGCTACCCCCACCATGAGTGGCCTCTACCTGATGCCTGGGACAGCTGGGGCTCCTGACTTGGGTCTGCTGGGTGGGGAAGGAGAGGGATTGAGCTGAGTTTTTCTGCATAACAGAGCAGAGAGGCCTTGGGGTTTGCTCAGACAGAGCGGTGGTCCTCCAGGACAGAGGAGGAGGGCAGAGAGAAGAGAAAAGGAGGCCCCCCAACACCCCCCACCCAATGAGTCAGAGGAAGAGGCTCAGCGGGGAAGAGAAATGCCCAATGGGGAAGCTCTCAGCTGTGTGCAGTGTGTGTGTGTGTGTGTGTGTGTGTACCTCTTCCTCCTTGTCTCTAAGGAGTAATACATCATTCCTGAAGACGTTAGTGTGGATGATTTTTGCTCTTCTCATTGAACTTGAATTGCAGCTCATTTCTGAATCTCAGTTGGTGTGGAGGGAGAGGGAGGCAGACCTCAGGGCTGGAGGCTGGAGGGCATTTTGGCTTCCACCAGCTTTGGGGAAAGACAGCCGAGAATATGATTCATGGAATTTGAAAACTGAGACTCTGTGGAGGACTCAGGGCAGTGTGGCTTTAACGACCCCATCTACTTGAGTGCAAAGCAGAATGCAGCCTGCCTGCTTTGAGTGCTGAGACTTGAGAGCAAAGGGGAGTAAGGAGGCTGCTAGGGGAACCCGTGGAAGTACAGCGGCCGCAGGAAGTCAGAAGGAAGGGGCCAGGGGAGAGAAGGAGGCCCATGCCTAGGCCAAAACTGTGTCACTCCAATGCAAAAAATCATGTAGGCAACACAAACACTAAAAAGTGAATAGTCAACTGTTATAGTTCTTTGTTCTACATGTTGCTAAACAAGTGTTTTGGATGATTGTGTCTTCACTAAATTTCTGACTTTCAACAATTGGTTCTGTGGGGTTCTTGGGGAAGCGTGCATGGACATTGATGTGACCGCCAGGACCAAGCAGGAAAGTGTCCAGGAAGCTACTCTAGGAGCTGCAAGCTGAGGAGCTGGAGGGTTTTTTGGTTTTGTTTTTGTTTTCTACTTTGAAACTTTTTATTGCATGTTCGTATCTCCGATCCTGGCCTGGCCCTGGGAACCCCCAAACATGCCACTTCCCATGTGCCTTGAGCAAGTCACTTAGCCTGTCTGGCCTTGGTTTGCTTGCCTGTGAAGTGAGGATGATATCGGGCATCCTAAGGTGGATGTGAGGATGTAATCTGAGAGCGTTAAAGCACCCAATAGTGCCCAACTAAATGGTAGTTGTCTTTCTTTATTGTTATCCTCTCTGTGTTTTGCCCATGGGTTGGAAATGCTCTTTAACTTACCTTGGGAAACCCAGTTGGGCACAGGCAACATTTGCGTAGTGACCCTTCCAGTCATCGGAGCACATGGTCTTCCACGAAGCAGCTGTGAACACCTGGAGCACGGCATTCTGACCACCCACCCGGACTGGCCGATGTGCAGAAAGAAAGGCTTATTAGTGGCCAGTGGAACCCTGAGACCATAGGCAGGGGTTTCTCCACAGCCAGCTCAAACCCCTCCTCTGCCAAATCTGACCCACTTCTTGTCCACGGCAGCCTCCCCATCACAGAGCAGTGACTCTGGATCCCTGAGACTTCTCGCTGGTCTCATCTTATTGCTTATGTGGTCTCCCCAAGAGAGCCAGAGCTCCATGGAAGGCCCTCCCTGACCCCCCAGCCCAACATGTCTTTGGGCAAACGCCAGTTCAATCCCAGCTGAAGACATGACCTAAAAATGGCAATGACTTGGACCCATTTTACAGATGGGAAGGGTCAGGGTTGGCTTCTGCTGCTTCCTTCTGTTTCCCCAGGGGAAGAGCCATGACCTTACCACAGCGGTACTCGTCCTCCCCGTCTTTGCAATCCGAGACTCCGTCACATCGAGCTATCAGCTCGATACACTTAAAGGATGAGCGACATCTGTACTTCCCTGAGCAGTCGAAGTGGACTGGGAAAAGGGAGGAAGGCAGGAATTAACCAACAGCTCTTTCAGAGTGCAACACTAACAACTGTCCCCCTGCCACACAGTGCGGAGCTGGCCCGTGAATAATGAAACCTGTATTGAAATTGCGTCCCTGTCAGCAGCCTGTTTCCTGCAGCCCAGTTTCTGTTTTGAATTCCAAGGGGTGGGGCTGCTGTGCCCCACTTTATCTCGCTATGTGGCCTGGCCCAGGAACCACAGTGCAAGGTGAATTTAGACTCTGGAGGTCTCAAGGTCAAGAGAGAAACTGCATGGCGGGGGGCCGACCTGCTGAGCCAGCCGAGCAAGGAGTCCTGACTGAGAACTGCTCGGCCTTCCTGGTTTCTCTTACCGAAGGCAGAAAGTGAACGAAGTGTGGACCACACAGTGGGGCAGGTGGCGAATTGAACTGACCTGTGATTCAGGTATTTGAAAGAAAAATTGTTCCCTATTAGAGACCCTCCATCCAAATGACCCACTTTCTCAAAAGCCACATGCACCTTATTGTAAAAACAGCTGGTGCGCCTGCATTGCATGAATAGGTCTCTTTGTCTTCTCCCCGCTGCCCCGGTCAGTGCCTCCCTCCCACCTGCAGGATTCTATTTCATCAGCTGCCTTTGGCCACTCCTAACCGGGCAGGTTCCTTGGTGACAAAGCCATGAGCATGGCCAGCAGCCCTTGCGGCACCCCAGACTGACTTTACATTCATGTGGGCAAATAAAACTTCAAGTCAGCAAACCAAAAGGATGTTTGCCTCCAGTAATTAAGGCTGGGCAGCAGCAAAATGCTGGGATGAGAGGGGGCGCTCATGAAAGTTTAACTACTTGGCTAGGTATTTGAGATCCTACTAAATAATGAATTGTACTCACTGCCCAGACCAATGGCCAGTGCTAATATCAATGCAATGATCCCAATGACGATGATTGGAAAAAACTTCAATGGCAGCAGTGACAGGATCTGTGCAGCAACAGCATCTGCATCTGAAAACCAGAAAAAGGAAGAGCAGAAAGCCACAGAACCTGACTTGGAGTGCCATGAAACTTACAAATTTAACTATCCTTTCCCCCTCCCCTCTTTGCAGAGAAGTCTCAGCCCAAAGAAAGGTGCCTTAATTAGGGAAAGGGCCACCCACCAAGGGGCACATTCTCTAGTTCAGTCCTACCTGCTCCACCTCTGACCCGGTTATTCCATGGGGGATGAGGGGATGTGCTATGGGTTGAATAGTATCCCCCAGAAAGACACGTTGAGGTCTTAACTCTTAGTACCTCAGAATGGCATCTTATTTGGAGATGGCCTGGAGAGTCTTTACAGAGTCATCTAGTTAAAATGAGTCATTAGGGTGGGCCCTAATCCAACGTGGCTGTTGCCCTTATAAAAAGGGGGAAAACAGCCGGGTGCAGTGGCTCACTCCTGTAATCCCAACATTTTGGGAAGCCAAAGCGGGTGGATCACCTGAAGTCAGGAGTTCAAGACAAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTAGCTGGGCATGATGGCAGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGGGAGGCAGAGGTGGCAGTGAGCTGAGATCGCACTGCTACACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCCAAAACACAAAAACAAAAAGGAGAAATCAGGACACAGGGACAAACATGCATGAAGGGAAGAGGATGGGAGGAGACACAGGCAGAAGCCAGCCTCATGAAGATGAAGGCAGAGATGGGAACAATGCATCTACACACCAAGAAATGCCAAAGATTATTGGCAAACCACCAGGAGCTAGGAAGAGGCAGGGCACGGTGCCCTATGGGTTTAAGAGGGAGTATGGCCTTGATGACACCTTGGAATTCAGACTTCTGGCCTCCAGAACTGAGACAATAAATTCCTGTTGTTTTAAGTCACCCAGTTTTGGGGACTTTGTTTCAGCAGCCCTATGACACTAAGATGGAGGGGAAGTAGCATCCCAAC
|
CATCGCATTCCCTGGATTTCCTTGTAGAGGGAGCATATTAAGGATGAGAAGGAATATTTTACCAAACGGGCTGGGGTGGAAGAGAGACGGGAAGGCTACCCCCACCATGAGTGGCCTCTACCTGATGCCTGGGACAGCTGGGGCTCCTGACTTGGGTCTGCTGGGTGGGGAAGGAGAGGGATTGAGCTGAGTTTTTCTGCATAACAGAGCAGAGAGGCCTTGGGGTTTGCTCAGACAGAGCGGTGGTCCTCCAGGACAGAGGAGGAGGGCAGAGAGAAGAGAAAAGGAGGCCCCCCAACACCCCCCACCCAATGAGTCAGAGGAAGAGGCTCAGCGGGGAAGAGAAATGCCCAATGGGGAAGCTCTCAGCTGTGTGCAGTGTGTGTGTGTGTGTGTGTGTGTGTACCTCTTCCTCCTTGTCTCTAAGGAGTAATACATCATTCCTGAAGACGTTAGTGTGGATGATTTTTGCTCTTCTCATTGAACTTGAATTGCAGCTCATTTCTGAATCTCAGTTGGTGTGGAGGGAGAGGGAGGCAGACCTCAGGGCTGGAGGCTGGAGGGCATTTTGGCTTCCACCAGCTTTGGGGAAAGACAGCCGAGAATATGATTCATGGAATTTGAAAACTGAGACTCTGTGGAGGACTCAGGGCAGTGTGGCTTTAACGACCCCATCTACTTGAGTGCAAAGCAGAATGCAGCCTGCCTGCTTTGAGTGCTGAGACTTGAGAGCAAAGGGGAGTAAGGAGGCTGCTAGGGGAACCCGTGGAAGTACAGCGGCCGCAGGAAGTCAGAAGGAAGGGGCCAGGGGAGAGAAGGAGGCCCATGCCTAGGCCAAAACTGTGTCACTCCAATGCAAAAAATCATGTAGGCAACACAAACACTAAAAAGTGAATAGTCAACTGTTATAGTTCTTTGTTCTACATGTTGCTAAACAAGTGTTTTGGATGATTGTGTCTTCACTAAATTTCTGACTTTCAACAATTGGTTCTGTGGGGTTCTTGGGGAAGCGTGCATGGACATTGATGTGACCGCCAGGACCAAGCAGGAAAGTGTCCAGGAAGCTACTCTAGGAGCTGCAAGCTGAGGAGCTGGAGGGTTTTTTGGTTTTGTTTTTGTTTTCTACTTTGAAACTTTTTATTGCATGTTCGTATCTCCGATCCTGGCCTGGCCCTGGGAACCCCCAAACATGCCACTTCCCATGTGCCTTGAGCAAGTCACTTAGCCTGTCTGGCCTTGGTTTGCTTGCCTGTGAAGTGAGGATGATATCGGGCATCCTAAGGTGGATGTGAGGATGTAATCTGAGAGCGTTAAAGCACCCAATAGTGCCCAACTAAATGGTAGTTGTCTTTCTTTATTGTTATCCTCTCTGTGTTTTGCCCATGGGTTGGAAATGCTCTTTAACTTACCTTGGGAAACCCAGTTGGGCACAGGCAACATTTGCGTAGTGACCCTTCCAGTCATCGGAGCACATGGTCTTCCACGAAGCAGCTGTGAACACCTGGAGCACGGCATTCTGACCACCCACCCGGACTGGCCGATGTGCAGAAAGAAAGGCTTATTAGTGGCCAGTGGAACCCTGAGACCATAGGCAGGGGTTTCTCCACAGCCAGCTCAAACCCCTCCTCTGCCAAATCTGACCCACTTCTTGTCCACGGCAGCCTCCCCATCACAGAGCAGTGACTCTGGATCCCTGAGACTTCTCGCTGGTCTCATCTTATTGCTTATGTGGTCTCCCCAAGAGAGCCAGAGCTCCATGGAAGGCCCTCCCTGACCCCCCAGCCCAACATGTCTTTGGGCAAACGCCAGTTCAATCCCAGCTGAAGACATGACCTAAAAATGGCAATGACTTGGACCCATTTTACAGATGGGAAGGGTCAGGGTTGGCTTCTGCTGCTTCCTTCTGTTTCCCCAGGGGAAGAGCCATGACCTTACCACAGCGGTACTCGTCCTCCCCGTCTTTGCAATCCGAGACTCCGTCACATCGAGCTATCAGCTCGATACACTTAAAGGATGAGCGACATCTGTACTTCCCTGAGCAGTCGAAGTGACTGGGAAAAGGGAGGAAGGCAGGAATTAACCAACAGCTCTTTCAGAGTGCAACACTAACAACTGTCCCCCTGCCACACAGTGCGGAGCTGGCCCGTGAATAATGAAACCTGTATTGAAATTGCGTCCCTGTCAGCAGCCTGTTTCCTGCAGCCCAGTTTCTGTTTTGAATTCCAAGGGGTGGGGCTGCTGTGCCCCACTTTATCTCGCTATGTGGCCTGGCCCAGGAACCACAGTGCAAGGTGAATTTAGACTCTGGAGGTCTCAAGGTCAAGAGAGAAACTGCATGGCGGGGGGCCGACCTGCTGAGCCAGCCGAGCAAGGAGTCCTGACTGAGAACTGCTCGGCCTTCCTGGTTTCTCTTACCGAAGGCAGAAAGTGAACGAAGTGTGGACCACACAGTGGGGCAGGTGGCGAATTGAACTGACCTGTGATTCAGGTATTTGAAAGAAAAATTGTTCCCTATTAGAGACCCTCCATCCAAATGACCCACTTTCTCAAAAGCCACATGCACCTTATTGTAAAAACAGCTGGTGCGCCTGCATTGCATGAATAGGTCTCTTTGTCTTCTCCCCGCTGCCCCGGTCAGTGCCTCCCTCCCACCTGCAGGATTCTATTTCATCAGCTGCCTTTGGCCACTCCTAACCGGGCAGGTTCCTTGGTGACAAAGCCATGAGCATGGCCAGCAGCCCTTGCGGCACCCCAGACTGACTTTACATTCATGTGGGCAAATAAAACTTCAAGTCAGCAAACCAAAAGGATGTTTGCCTCCAGTAATTAAGGCTGGGCAGCAGCAAAATGCTGGGATGAGAGGGGGCGCTCATGAAAGTTTAACTACTTGGCTAGGTATTTGAGATCCTACTAAATAATGAATTGTACTCACTGCCCAGACCAATGGCCAGTGCTAATATCAATGCAATGATCCCAATGACGATGATTGGAAAAAACTTCAATGGCAGCAGTGACAGGATCTGTGCAGCAACAGCATCTGCATCTGAAAACCAGAAAAAGGAAGAGCAGAAAGCCACAGAACCTGACTTGGAGTGCCATGAAACTTACAAATTTAACTATCCTTTCCCCCTCCCCTCTTTGCAGAGAAGTCTCAGCCCAAAGAAAGGTGCCTTAATTAGGGAAAGGGCCACCCACCAAGGGGCACATTCTCTAGTTCAGTCCTACCTGCTCCACCTCTGACCCGGTTATTCCATGGGGGATGAGGGGATGTGCTATGGGTTGAATAGTATCCCCCAGAAAGACACGTTGAGGTCTTAACTCTTAGTACCTCAGAATGGCATCTTATTTGGAGATGGCCTGGAGAGTCTTTACAGAGTCATCTAGTTAAAATGAGTCATTAGGGTGGGCCCTAATCCAACGTGGCTGTTGCCCTTATAAAAAGGGGGAAAACAGCCGGGTGCAGTGGCTCACTCCTGTAATCCCAACATTTTGGGAAGCCAAAGCGGGTGGATCACCTGAAGTCAGGAGTTCAAGACAAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTAGCTGGGCATGATGGCAGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGGGAGGCAGAGGTGGCAGTGAGCTGAGATCGCACTGCTACACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCCAAAACACAAAAACAAAAAGGAGAAATCAGGACACAGGGACAAACATGCATGAAGGGAAGAGGATGGGAGGAGACACAGGCAGAAGCCAGCCTCATGAAGATGAAGGCAGAGATGGGAACAATGCATCTACACACCAAGAAATGCCAAAGATTATTGGCAAACCACCAGGAGCTAGGAAGAGGCAGGGCACGGTGCCCTATGGGTTTAAGAGGGAGTATGGCCTTGATGACACCTTGGAATTCAGACTTCTGGCCTCCAGAACTGAGACAATAAATTCCTGTTGTTTTAAGTCACCCAGTTTTGGGGACTTTGTTTCAGCAGCCCTATGACACTAAGATGGAGGGGAAGTAGCATCCCAACN
|
pathogenic
| 319,237 |
Classify the chromosome 21 variant at position 42477271 affecting gene RSPH1 (radial spoke head component 1) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
benign
|
CATCCAAACCCATTGAAAAAGAGCTAGTTCCCGACACCACTAGTCTGAAACCATACTCCTGTTAGTCAGCCCTGCTAAAAATCATGCAAATCCCAGCACTTTGGGAGGCCGAGGCGGGCCTCCTGTGTGAGGTCAGGAGTTTGAGACCAGTCTGTCCAACACGGTGAAACCCACCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTTGGGATGCTGAGGCAGGGGAATTGCTTGAACCAGTGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGTACTCCAGCCTGGGTGACATAGCAAGACTCCATCTCAAAAAAAAAAAAAAAATCATGCAACAGAAGAAAGCCAGGCTCTGCATGTCTGACAGGGCTCTCCAGCCTGGGGTCGGTCCTCCTGTGACAACGCGCATGGGCACCGCTGCACACCCAGGCCTCTCCCACTGCAGCCAGGCTTGCAGGAGGGCCTGCCAGGGAGCAACGTTCTGAGATGGCTCCAGTGAGCGCTCACAGGGGGCCCCCTAAGCCTTCCTCGAGTCCCTGGGGCCCAGCTGAAGGCAGGCCTTGGTGAAGGGAAGGGGAATCCCACTGTTCGTGGCCCCTAAGTGCGGGCCCTCGCCCCACTTCCCTGCGCAGGGACCTCACCCTCATCCATGTCATAGCGGAACTCCTCCTGGTCATACTCCCGGCTCTCTTCCCGGAGGACGTCTGCATCTTCATCTCCAGGCCTCATGTCCATCTCACCCTCGAAGCCCTCCAGCAGAGCCTGGGCCTCCTCCCCGGGTTCTCCTGCACCTGAGATAAAACACAAGTCAGAAGCCTGAGTTCCTGGGAAAAATGGAGCCTGCAGACCTGTGCAGGGCAGCTGTCCCCTGGGCTGCCGTGCCCCCACCCTCCCCCTCCCACTGGCAGCACCTCATGTTCCCCATCTCAACATCCACCCAGCCCAGCCTAGGCCTGGCCAGGGGAGCAGCCCAGTCCCCACTGTAGTCAGTGGCTTGGGGATGGGAGCAGGTAGTCTGATAACTTTCATTCCTGAGGGTGTTGATGAGACTCTTGAGAAAGAGAAGTCCCCTGGGGTTCCTGAGAGTGCCAGCCAGGGGAGCCAGCAGAGAGGAGAGCTGGGACAGAGGGCAGAGGCTGCCCGGCCATTCTGGGGGCTGTCCCGGAGCTTCCCAGTCACATGAGCCAAGAAATTCTTAGCAGCATGAGTATTCTTTCACGGAGGCCAATCGGAGTTGGCTTTCCTCCGCTTGCCATGGAAGGGATCTCACCCGGGGTAGCCACCTTCAACTTTCCCCAGCACATTAAGGACTTCCAGAAAGACCACTGGGTTGGACATGGAGGTGCCACACGGACCCTTCTTCAGGGAAGGGCTGTCCCCTCAGCTGCTGTCAGTGCCAGCCCGGGGTCACACCCACATTCACTCACTGACCTAGGTGAGGGGATAAGGGTCCCCGAGACGCCACAGTGCTCCCCATGGAATGAAGCAAGGTTGTGGAGGCCACACCTCCGCCTCTGTCCAATCAACTCTGTTTCTTTCCTCTCCCCTCCGCTCTCCGGGAGTGTCCTCCAATCCCAAAGGCTCTCCCTAATAACATCCCGCACACTCAACTGACCCAGCATCTGATTTTCAGAGAGTCCAACCACACCTGGCCTGAAAACAGGATGTCCACAACTCCCACAGCCCAAAGGCGCCCACACCCTCCATCCCACAGCCTGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACTCTCAGCTCCTGGAGCGTCTTGGCCAGGTCCATCCGTAGAGGTCGGCTTTTTGGGGAGAGTTGGTGTCCACAGGGCCAATTCAGTGATTTGGGTAGCTTTCCATTTTGGAACAACAGTTACTAATTCTTCCTCCTCTTCCTCTTCTCCTCTTTCCTATTTTAAGTGCAAAAATGTACATTTACCAACATTTGTGTCATCTTGGTCTGGAATATTAAAAGTGAGGGAGGAAGGACAAGTTTTGAAAGACAGGTTTTGGCTTGTGTTTCAGCCTTTTTAGGACGTCACTCAGGAATCAGACCAGTTGCTGACTATCCATGGTATAATCTCAGGGTTGAGAATGGATCTTGAAAGAGCCAGGGTGAGGAATAAAGTCTCCAGAGCAATGCTGGGCCAGCGAGCTTTATAATGGGTGCCACAAAAGGCTTTCAGATGAGCATGTCGCAGTCGCCTGCAATAGCTAAGACATGGCCAGGACTAAGTGGCCAGAACTGAGTGACCAGGAGTAAGTGGTCTTTTCAATTGTTCGGCCACATTTTGCAACTCTAATATAAAAAATCGTGTATTATATAATTATATGTCTATTGAGCTTAGTAGAAACATAATTATTTATATTATTCTTTATATAAATAATAAAAGAAACAGCCATTTGTTTTAGGCTTAGGCCTAAGAAGTTCCTAAGATGTCCATATGATATGGATTTGCATAAACGCAAAAGCTCAAGTGTCAAGGATTATGGGGAAAAATAAAATTCAAGGAAAGCAGAATGAGAGTTCATCAAGTCTGAACATGGAACACTTTGTAATAAAAAATGTACAATTCCGACAATGGTGAGCAGCCAACATGTGCCAATTTTGCCAAGCATATTTGCCTACTTCTCAGTTTTGTGACTATCACAAAATTCCAAAGATCTGAGCATCAGCACTATGACTATGGAACACTTCGCTGCCACATAGGTGATAATACCGATGACAGAGAGGGGCAGACACCTGCCTCTTCCACTGAGTCACTGGGAAATCAATTACTCTCTATTTTGGTCTCAGAGTGTTTGAATATGGCCACCCATGAAGGGTGACACCAATGCTGCAGGACAGGGTCCTCAAACTTGACTTAGATCAGAATCACCCAGAAAGCATTAAAAGACAGATTGCTAGCCCCACCCCCAGAGTTTCAGATTCGGCAGGTCTGGGATAGCGTCCAATAAGCTGCATTCCTAACAGATTCCCAGGTGAAGCTGACAGCACTAGTTTGGGAACTGCACGCCACTTTATGTATAAAACCAAGAGGTGGAACCCTTTCACATTGCTGGTGGGAACGTAAAATGCTGCAGCTACTGTAGAAAACATTTGACAGTTCTTCAAAAAGCGAAACAGCATCACCATATGACCCAGCAATTCCACTCCTCGGTATATAACCAAAGGAACTGAAAACAGAGATTCGACCAGATGCTTGCACACCAATGTTCACTGCAGCATTATTCATAATAGCTAAAATGTGGAAGCAACTCAATTGTCCATCAACAGACAAATGGATAAGCAAGAACCTTGAAAACGTCGTGCTAAATGAAAGAAGCCAGACACAAAAGGACAAATACAGAATGAATTCATCTATATGCGACATCTAGAATAGGCAAATTCATAGAGAAAGAAAGTAGATTAAAAGCTATCAGGGGCTGGGGGAGGTCGAATGGGGAGTTGTTGCTTAATAGGTACAGAGTTTCTGTCTGGGATAACGGACAAGCTCCAGAAATGCATCATTCTCACAGCTGCACAACACTGAACGTACTGAATGCCACTGAAAGCATGCTTTAAAATGGCAAATTTCAAACTCTATAAACGTACATATAAAACCATAATTTAAAAAGAAACAGGGAGTGAGCCGTGGGCTGCAGCTTGGCAAGCCCTACTCTAGAAGGGATACATTCCCCTTACTAGGGAGAGAGAACACGGAGGCCCTTCTGTTCCACCACCATCCTAATCCATCCCCACAGCACAGTGGGAGGCCTTCCACAAAGCCCTCAGGTTGTTGCT
|
CATCCAAACCCATTGAAAAAGAGCTAGTTCCCGACACCACTAGTCTGAAACCATACTCCTGTTAGTCAGCCCTGCTAAAAATCATGCAAATCCCAGCACTTTGGGAGGCCGAGGCGGGCCTCCTGTGTGAGGTCAGGAGTTTGAGACCAGTCTGTCCAACACGGTGAAACCCACCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTTGGGATGCTGAGGCAGGGGAATTGCTTGAACCAGTGAGGTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGTACTCCAGCCTGGGTGACATAGCAAGACTCCATCTCAAAAAAAAAAAAAAAATCATGCAACAGAAGAAAGCCAGGCTCTGCATGTCTGACAGGGCTCTCCAGCCTGGGGTCGGTCCTCCTGTGACAACGCGCATGGGCACCGCTGCACACCCAGGCCTCTCCCACTGCAGCCAGGCTTGCAGGAGGGCCTGCCAGGGAGCAACGTTCTGAGATGGCTCCAGTGAGCGCTCACAGGGGGCCCCCTAAGCCTTCCTCGAGTCCCTGGGGCCCAGCTGAAGGCAGGCCTTGGTGAAGGGAAGGGGAATCCCACTGTTCGTGGCCCCTAAGTGCGGGCCCTCGCCCCACTTCCCTGCGCAGGGACCTCACCCTCATCCATGTCATAGCGGAACTCCTCCTGGTCATACTCCCGGCTCTCTTCCCGGAGGACGTCTGCATCTTCATCTCCAGGCCTCATGTCCATCTCACCCTCGAAGCCCTCCAGCAGAGCCTGGGCCTCCTCCCCGGGTTCTCCTGCACCTGAGATAAAACACAAGTCAGAAGCCTGAGTTCCTGGGAAAAATGGAGCCTGCAGACCTGTGCAGGGCAGCTGTCCCCTGGGCTGCCGTGCCCCCACCCTCCCCCTCCCACTGGCAGCACCTCATGTTCCCCATCTCAACATCCACCCAGCCCAGCCTAGGCCTGGCCAGGGGAGCAGCCCAGTCCCCACTGTAGTCAGTGGCTTGGGGATGGGAGCAGGTAGTCTGATAACTTTCATTCCTGAGGGTGTTGATGAGACTCTTGAGAAAGAGAAGTCCCCTGGGGTTCCTGAGAGTGCCAGCCAGGGGAGCCAGCAGAGAGGAGAGCTGGGACAGAGGGCAGAGGCTGCCCGGCCATTCTGGGGGCTGTCCCGGAGCTTCCCAGTCACATGAGCCAAGAAATTCTTAGCAGCATGAGTATTCTTTCACGGAGGCCAATCGGAGTTGGCTTTCCTCCGCTTGCCATGGAAGGGATCTCACCCGGGGTAGCCACCTTCAACTTTCCCCAGCACATTAAGGACTTCCAGAAAGACCACTGGGTTGGACATGGAGGTGCCACACGGACCCTTCTTCAGGGAAGGGCTGTCCCCTCAGCTGCTGTCAGTGCCAGCCCGGGGTCACACCCACATTCACTCACTGACCTAGGTGAGGGGATAAGGGTCCCCGAGACGCCACAGTGCTCCCCATGGAATGAAGCAAGGTTGTGGAGGCCACACCTCCGCCTCTGTCCAATCAACTCTGTTTCTTTCCTCTCCCCTCCGCTCTCCGGGAGTGTCCTCCAATCCCAAAGGCTCTCCCTAATAACATCCCGCACACTCAACTGACCCAGCATCTGATTTTCAGAGAGTCCAACCACACCTGGCCTGAAAACAGGATGTCCACAACTCCCACAGCCCAAAGGCGCCCACACCCTCCATCCCACAGCCTGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACACCCGGGGGTGCCCCACACTCTCAGCTCCTGGAGCGTCTTGGCCAGGTCCATCCGTAGAGGTCGGCTTTTTGGGGAGAGTTGGTGTCCACAGGGCCAATTCAGTGATTTGGGTAGCTTTCCATTTTGGAACAACAGTTACTAATTCTTCCTCCTCTTCCTCTTCTCCTCTTTCCTATTTTAAGTGCAAAAATGTACATTTACCAACATTTGTGTCATCTTGGTCTGGAATATTAAAAGTGAGGGAGGAAGGACAAGTTTTGAAAGACAGGTTTTGGCTTGTGTTTCAGCCTTTTTAGGACGTCACTCAGGAATCAGACCAGTTGCTGACTATCCATGGTATAATCTCAGGGTTGAGAATGGATCTTGAAAGAGCCAGGGTGAGGAATAAAGTCTCCAGAGCAATGCTGGGCCAGCGAGCTTTATAATGGGTGCCACAAAAGGCTTTCAGATGAGCATGTCGCAGTCGCCTGCAATAGCTAAGACATGGCCAGGACTAAGTGGCCAGAACTGAGTGACCAGGAGTAAGTGGTCTTTTCAATTGTTCGGCCACATTTTGCAACTCTAATATAAAAAATCGTGTATTATATAATTATATGTCTATTGAGCTTAGTAGAAACATAATTATTTATATTATTCTTTATATAAATAATAAAAGAAACAGCCATTTGTTTTAGGCTTAGGCCTAAGAAGTTCCTAAGATGTCCATATGATATGGATTTGCATAAACGCAAAAGCTCAAGTGTCAAGGATTATGGGGAAAAATAAAATTCAAGGAAAGCAGAATGAGAGTTCATCAAGTCTGAACATGGAACACTTTGTAATAAAAAATGTACAATTCCGACAATGGTGAGCAGCCAACATGTGCCAATTTTGCCAAGCATATTTGCCTACTTCTCAGTTTTGTGACTATCACAAAATTCCAAAGATCTGAGCATCAGCACTATGACTATGGAACACTTCGCTGCCACATAGGTGATAATACCGATGACAGAGAGGGGCAGACACCTGCCTCTTCCACTGAGTCACTGGGAAATCAATTACTCTCTATTTTGGTCTCAGAGTGTTTGAATATGGCCACCCATGAAGGGTGACACCAATGCTGCAGGACAGGGTCCTCAAACTTGACTTAGATCAGAATCACCCAGAAAGCATTAAAAGACAGATTGCTAGCCCCACCCCCAGAGTTTCAGATTCGGCAGGTCTGGGATAGCGTCCAATAAGCTGCATTCCTAACAGATTCCCAGGTGAAGCTGACAGCACTAGTTTGGGAACTGCACGCCACTTTATGTATAAAACCAAGAGGTGGAACCCTTTCACATTGCTGGTGGGAACGTAAAATGCTGCAGCTACTGTAGAAAACATTTGACAGTTCTTCAAAAAGCGAAACAGCATCACCATATGACCCAGCAATTCCACTCCTCGGTATATAACCAAAGGAACTGAAAACAGAGATTCGACCAGATGCTTGCACACCAATGTTCACTGCAGCATTATTCATAATAGCTAAAATGTGGAAGCAACTCAATTGTCCATCAACAGACAAATGGATAAGCAAGAACCTTGAAAACGTCGTGCTAAATGAAAGAAGCCAGACACAAAAGGACAAATACAGAATGAATTCATCTATATGCGACATCTAGAATAGGCAAATTCATAGAGAAAGAAAGTAGATTAAAAGCTATCAGGGGCTGGGGGAGGTCGAATGGGGAGTTGTTGCTTAATAGGTACAGAGTTTCTGTCTGGGATAACGGACAAGCTCCAGAAATGCATCATTCTCACAGCTGCACAACACTGAACGTACTGAATGCCACTGAAAGCATGCTTTAAAATGGCAAATTTCAAACTCTATAAACGTACATATAAAACCATAATTTAAAAAGAAACAGGGAGTGAGCCGTGGGCTGCAGCTTGGCAAGCCCTACTCTAGAAGGGATACATTCCCCTTACTAGGGAGAGAGAACACGGAGGCCCTTCTGTTCCACCACCATCCTAATCCATCCCCACAGCACAGTGGGAGGCCTTCCACAAAGCCCTCAGGTTGTTGCTN
|
benign
| 319,271 |
A genetic alteration at chromosome 21, position 43053969, in gene CBS (cystathionine beta-synthase)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED', 'Homocystinuria']
|
CTGAGGCAGGAGAACTGCTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCTACTGCATTCCAGCCTGGGCGACAGAGAAAGACTCTGTCTCAAAACAATAAAAAATACGAAACACAAAAATTAGCTGGGCGTGGTGTTGGGAACTTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATAGCTTGAACCCAGGAGGTGAAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGTAAAAAGATAACCTACAGAATGGGAGAAAATATTTGCAAGTCTTATGATAAGGGCTTAGTATCCTGAACATATAAAGAGCTCCTACAACTCAACAAAAAGACAACCCAATTTAAAAACAGGAGATGGATTCTCCCAAAAAATAACCAACAGGCATATGAAAAGATGGTCACTCAACATCACCAATGATTACAGAAAGGCAAATCAAAACCATAATGAGACACCTCTTCATACACACTAGCATGGCTATAATAATTTAAAACAAGAAAATAGCAAGTGTTGATAAGGACCTGGAGAAACTGGAACCCTCGGGCACTGTTGGTGAGAATGGAAATCGGTGTGACCAGTATGGAACACAGCTTGATGGTTCCTCAAAAAATAAACATGGACGCCGGGCGCAGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACAAAAATACAAAAATTAGCCAGGCACAGTGGTGCACACTTGTAATCCTGGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCATTGTACTCCAGCCTGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATTAAACATGGAGTTACCACATTAACCAGCAATGCCACTCCTGGGTACACACCCAAGAAAAGTGAAAAGAGGTGTCCAGACATACTCGGCCATGAAGGTGCACAGCAGGTTACTCACAAGGGCTGAAAAGCAGAAACAACCAGGTGTCCATCACCGATAAATGAGGAACCAAAATGTGGTCTATCCACACAATGGCTTATTATTCGGCCACAAAAAGAAACCAAGTACACGTGCTCTGACATGCCTGAAAATACCATGCAAAGTGAAATAAGTTAGACACGAGGCCACAATTGTGTGATTCCATTTATATGAAATGTCCAGAACAGGGAAAACCTATTTTAGACAACAGAGACACAAAGTCGATCAGCAGTTGCCAGGGGAGGAGGAAGACGGGAGGGGAAATGATTGCTTCACGGGGTGATGACAGAATGTTCCAGAACGTGACAGAGGTGGTGCCTACACAACTTTCTGGATGTACTAAATGCCGCTGATTGTTCACTTTCAAGTGATTGATTTTTAGGTTATTTGAATTTCATCTCAATTAAAAAACCCAAACACGCAAACTGCTCCCGCCAGCTCAGCCCCGAGCAGACGGCGCAGCCCGTGGAGGATGCTGAGCCACCCAGGCTTCTCCCCGCCCCTTCCTGGACTCTTCTCTCTTTTGCCTTTAATCCACTCTGCGCAGTCATTGCCTGTGTTCATCCTACCTGGCCGACTTCTCTCTCAATATTTCCTTGGTGAAACATCCTAAGAGGAAGTTACATTAGAGAAAATCACATATTTCATCTCATAGGCCGTAAACAGGGCCATTTAGGAAGCCATGTGTTAACGAGGGGAGACGGATGCTCTGTGCCGTGTGCAGGGATAACGGTGCCAGGCCAGGCAGTTACCAATCACGCGTGTGTTTAGGGCTCAGGAAAGCGAAGGAGAAGTGGGCAAGGGTGGCGGGCCCGCTCCGCACCGCCCAGCGCTCCGGACTTCACTTCTGGTCCCGCTCCTGGGCGGCCACGAAGTTCAGCAAGTCAATGGCGGTGACCACCCCGAACACCATCTGCCGCTGACTGGACTTCCCGGTGCTGTGGTCTGAGGGGAGAACGAGGCAGTGGGTTTGCAGGTGCCGTGGGAGGCTGGGTGGGCTGCTGCGGGGCAGGAGGCTCCTGAGGGCCTGGGGCACCTGTGCACCATGGGGGCCCAGGGTGGCTGGAGCCCAGCGGCGAAGGCTGTGTTCCTTTTTTTTTTTCTGAGACAGGGCCTCACTCTGTCCCCTAGGCTGGAGTGCAGTGGTGCAGTCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAGACTCCCGAGTATCTGGGACTTCAGGTGCACATCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAAGTGATCCACTTGCCTCGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCAAGCCAGTGTTCTTCTGACATGAGCCCCATGAGCCCCCAGGCCAGGTTCTACCCACCACGTGAGTCCCCTGGGCCCCAGGCCAGGCTCCACCCACCGCAGGTCAGGACACACCCTTCCCTGGCCCACCGGCTGAGCTCCTGAGGCACTCATGACTTCAGAGCCGGTGTGGGCATGAAATTCAAACCCGCTTACAGGGCCGGGCACAGTGGCTCACACCTGTGATCCCAGCGCTGTGGGAGGCCAAGGTGGGAGGATCATTTAAGCCCGGAAGTCTGGGACCAGCCTGGGCAACATATTGAGACCCTGTCTCTACAGAATATTTTTAAAAATAAATTAGTCGAGCATGGTGGCACACGCTTGTGGTCCCAGCTACTTGGGAGACTGAGGCAGAAGGATCAGTTGAGCACAGCAGGTCGAGGCTGCAGCGAGCTATGATGGCACTACTGCACTCCAGTCGGCAACAGAGCAAGACCCTGTCTCTAAAAACAGACAAAAACCCCTTGCCACCATGGGCAGCACACAGCTTCCATCTCTGGCCTGATTCTGTCTTCACCCCTCCTGCTTTCTCCTGGCAAGCGTAGACCCGGTGTTAATGCTGGCCGAGGCTCCCATGCCACATACCCAGACAGGGCTGTTGTGATGGTTAATTTTAATACAGATTAACGGGGCCGTGGGAGCCCAGGCATTGGTCACACGTCGTTCTGGGCATGTGTGAGGGGATTCCGGATTAGCACAAGAGTCAAGAGGCAGATAACGTGTGCTACTGTGGAGGGCCTCACCCAAGCAGTTGAAGGCCTGAATAGAACCAAAGGTGGAATTTCCTGCCTTGGGGCTTGAACTGCTGGCTCTCCAGTCTCCGGCCTGCCGCCTCACCCTGCAGATCTCAGGGTTTGTCAGCCTCCGTGATCTCATGATCCAGTTCCTTAACACAGATCTCGTTCCCTCTCTCTCCCCGCTCCCCACACATCCTCTTGGTCCTGCGTCTCCACAGGACCCTACACCAGCTGTCATGAGGCACAGAGGGGTGAGCAAGGTGCGGGTGAGGAAGAGCCCTCGGAGCCCGTCCCAACTCCGCCACGGCTGTCACTCCTCTCTTTGTAGGCAGAGGTCCCTTGGGGTGGCCCACTTAGAGCCCCAGGAAAAGATAGGGAACACAGATGAGATCAGCTCCTTGCATTTTGGGGAAACGGAGGCACAGCAACTGTTGGAGAAGGGAGCCCTGGGAGCCCTGAGTGCCGCAGGCTTCTGTGGCCCTGGCAGCTCGGCCCAGAGTCAATGGACTAGGGCCAGCCAGGGGACTTTCCGACAAGGGCCAGCTGGTGGTATTTTAGGTCTTGGGGGCCGTGCCGTCTCTGTTATGAGCACGCAGCCCTGACGTGCTTGAAAGCAGCCACAGACGGTGGTGACAAGCGTGGACATGCTCCAGGAAGACTTGATTTGGGGACCCTGACATTGGAATTTGCATCTTTTTTTTTTTCTGAGATGTTCAAACACAAGTAAATGTGAGATTAAGAGGGGGATCCCTCCTACCCAAGCTTGGGGGTGGGTCCAGGACCCTGGAAGGCCTCCATTTGCCATGGGGAGGCTGTGAA
|
CTGAGGCAGGAGAACTGCTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATCACGCTACTGCATTCCAGCCTGGGCGACAGAGAAAGACTCTGTCTCAAAACAATAAAAAATACGAAACACAAAAATTAGCTGGGCGTGGTGTTGGGAACTTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATAGCTTGAACCCAGGAGGTGAAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGTAAAAAGATAACCTACAGAATGGGAGAAAATATTTGCAAGTCTTATGATAAGGGCTTAGTATCCTGAACATATAAAGAGCTCCTACAACTCAACAAAAAGACAACCCAATTTAAAAACAGGAGATGGATTCTCCCAAAAAATAACCAACAGGCATATGAAAAGATGGTCACTCAACATCACCAATGATTACAGAAAGGCAAATCAAAACCATAATGAGACACCTCTTCATACACACTAGCATGGCTATAATAATTTAAAACAAGAAAATAGCAAGTGTTGATAAGGACCTGGAGAAACTGGAACCCTCGGGCACTGTTGGTGAGAATGGAAATCGGTGTGACCAGTATGGAACACAGCTTGATGGTTCCTCAAAAAATAAACATGGACGCCGGGCGCAGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACAAAAATACAAAAATTAGCCAGGCACAGTGGTGCACACTTGTAATCCTGGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCATTGTACTCCAGCCTGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATTAAACATGGAGTTACCACATTAACCAGCAATGCCACTCCTGGGTACACACCCAAGAAAAGTGAAAAGAGGTGTCCAGACATACTCGGCCATGAAGGTGCACAGCAGGTTACTCACAAGGGCTGAAAAGCAGAAACAACCAGGTGTCCATCACCGATAAATGAGGAACCAAAATGTGGTCTATCCACACAATGGCTTATTATTCGGCCACAAAAAGAAACCAAGTACACGTGCTCTGACATGCCTGAAAATACCATGCAAAGTGAAATAAGTTAGACACGAGGCCACAATTGTGTGATTCCATTTATATGAAATGTCCAGAACAGGGAAAACCTATTTTAGACAACAGAGACACAAAGTCGATCAGCAGTTGCCAGGGGAGGAGGAAGACGGGAGGGGAAATGATTGCTTCACGGGGTGATGACAGAATGTTCCAGAACGTGACAGAGGTGGTGCCTACACAACTTTCTGGATGTACTAAATGCCGCTGATTGTTCACTTTCAAGTGATTGATTTTTAGGTTATTTGAATTTCATCTCAATTAAAAAACCCAAACACGCAAACTGCTCCCGCCAGCTCAGCCCCGAGCAGACGGCGCAGCCCGTGGAGGATGCTGAGCCACCCAGGCTTCTCCCCGCCCCTTCCTGGACTCTTCTCTCTTTTGCCTTTAATCCACTCTGCGCAGTCATTGCCTGTGTTCATCCTACCTGGCCGACTTCTCTCTCAATATTTCCTTGGTGAAACATCCTAAGAGGAAGTTACATTAGAGAAAATCACATATTTCATCTCATAGGCCGTAAACAGGGCCATTTAGGAAGCCATGTGTTAACGAGGGGAGACGGATGCTCTGTGCCGTGTGCAGGGATAACGGTGCCAGGCCAGGCAGTTACCAATCACGCGTGTGTTTAGGGCTCAGGAAAGCGAAGGAGAAGTGGGCAAGGGTGGCGGGCCCGCTCCGCACCGCCCAGCGCTCCGGACTTCACTTCTGGTCCCGCTCCTGGGCGGCCACGAAGTTCAGCAAGTCAATGGCGGTGACCACCCCGAACACCATCTGCCGCTGACTGGACTTCCGGTGCTGTGGTCTGAGGGGAGAACGAGGCAGTGGGTTTGCAGGTGCCGTGGGAGGCTGGGTGGGCTGCTGCGGGGCAGGAGGCTCCTGAGGGCCTGGGGCACCTGTGCACCATGGGGGCCCAGGGTGGCTGGAGCCCAGCGGCGAAGGCTGTGTTCCTTTTTTTTTTTCTGAGACAGGGCCTCACTCTGTCCCCTAGGCTGGAGTGCAGTGGTGCAGTCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAGACTCCCGAGTATCTGGGACTTCAGGTGCACATCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAAGTGATCCACTTGCCTCGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCAAGCCAGTGTTCTTCTGACATGAGCCCCATGAGCCCCCAGGCCAGGTTCTACCCACCACGTGAGTCCCCTGGGCCCCAGGCCAGGCTCCACCCACCGCAGGTCAGGACACACCCTTCCCTGGCCCACCGGCTGAGCTCCTGAGGCACTCATGACTTCAGAGCCGGTGTGGGCATGAAATTCAAACCCGCTTACAGGGCCGGGCACAGTGGCTCACACCTGTGATCCCAGCGCTGTGGGAGGCCAAGGTGGGAGGATCATTTAAGCCCGGAAGTCTGGGACCAGCCTGGGCAACATATTGAGACCCTGTCTCTACAGAATATTTTTAAAAATAAATTAGTCGAGCATGGTGGCACACGCTTGTGGTCCCAGCTACTTGGGAGACTGAGGCAGAAGGATCAGTTGAGCACAGCAGGTCGAGGCTGCAGCGAGCTATGATGGCACTACTGCACTCCAGTCGGCAACAGAGCAAGACCCTGTCTCTAAAAACAGACAAAAACCCCTTGCCACCATGGGCAGCACACAGCTTCCATCTCTGGCCTGATTCTGTCTTCACCCCTCCTGCTTTCTCCTGGCAAGCGTAGACCCGGTGTTAATGCTGGCCGAGGCTCCCATGCCACATACCCAGACAGGGCTGTTGTGATGGTTAATTTTAATACAGATTAACGGGGCCGTGGGAGCCCAGGCATTGGTCACACGTCGTTCTGGGCATGTGTGAGGGGATTCCGGATTAGCACAAGAGTCAAGAGGCAGATAACGTGTGCTACTGTGGAGGGCCTCACCCAAGCAGTTGAAGGCCTGAATAGAACCAAAGGTGGAATTTCCTGCCTTGGGGCTTGAACTGCTGGCTCTCCAGTCTCCGGCCTGCCGCCTCACCCTGCAGATCTCAGGGTTTGTCAGCCTCCGTGATCTCATGATCCAGTTCCTTAACACAGATCTCGTTCCCTCTCTCTCCCCGCTCCCCACACATCCTCTTGGTCCTGCGTCTCCACAGGACCCTACACCAGCTGTCATGAGGCACAGAGGGGTGAGCAAGGTGCGGGTGAGGAAGAGCCCTCGGAGCCCGTCCCAACTCCGCCACGGCTGTCACTCCTCTCTTTGTAGGCAGAGGTCCCTTGGGGTGGCCCACTTAGAGCCCCAGGAAAAGATAGGGAACACAGATGAGATCAGCTCCTTGCATTTTGGGGAAACGGAGGCACAGCAACTGTTGGAGAAGGGAGCCCTGGGAGCCCTGAGTGCCGCAGGCTTCTGTGGCCCTGGCAGCTCGGCCCAGAGTCAATGGACTAGGGCCAGCCAGGGGACTTTCCGACAAGGGCCAGCTGGTGGTATTTTAGGTCTTGGGGGCCGTGCCGTCTCTGTTATGAGCACGCAGCCCTGACGTGCTTGAAAGCAGCCACAGACGGTGGTGACAAGCGTGGACATGCTCCAGGAAGACTTGATTTGGGGACCCTGACATTGGAATTTGCATCTTTTTTTTTTTCTGAGATGTTCAAACACAAGTAAATGTGAGATTAAGAGGGGGATCCCTCCTACCCAAGCTTGGGGGTGGGTCCAGGACCCTGGAAGGCCTCCATTTGCCATGGGGAGGCTGTGAAN
|
pathogenic
| 319,364 |
Evaluate if the mutation on chromosome 21 at position 43056855 in CBS (cystathionine beta-synthase) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED']
|
TGAGGCAGAAGGATCAGTTGAGCACAGCAGGTCGAGGCTGCAGCGAGCTATGATGGCACTACTGCACTCCAGTCGGCAACAGAGCAAGACCCTGTCTCTAAAAACAGACAAAAACCCCTTGCCACCATGGGCAGCACACAGCTTCCATCTCTGGCCTGATTCTGTCTTCACCCCTCCTGCTTTCTCCTGGCAAGCGTAGACCCGGTGTTAATGCTGGCCGAGGCTCCCATGCCACATACCCAGACAGGGCTGTTGTGATGGTTAATTTTAATACAGATTAACGGGGCCGTGGGAGCCCAGGCATTGGTCACACGTCGTTCTGGGCATGTGTGAGGGGATTCCGGATTAGCACAAGAGTCAAGAGGCAGATAACGTGTGCTACTGTGGAGGGCCTCACCCAAGCAGTTGAAGGCCTGAATAGAACCAAAGGTGGAATTTCCTGCCTTGGGGCTTGAACTGCTGGCTCTCCAGTCTCCGGCCTGCCGCCTCACCCTGCAGATCTCAGGGTTTGTCAGCCTCCGTGATCTCATGATCCAGTTCCTTAACACAGATCTCGTTCCCTCTCTCTCCCCGCTCCCCACACATCCTCTTGGTCCTGCGTCTCCACAGGACCCTACACCAGCTGTCATGAGGCACAGAGGGGTGAGCAAGGTGCGGGTGAGGAAGAGCCCTCGGAGCCCGTCCCAACTCCGCCACGGCTGTCACTCCTCTCTTTGTAGGCAGAGGTCCCTTGGGGTGGCCCACTTAGAGCCCCAGGAAAAGATAGGGAACACAGATGAGATCAGCTCCTTGCATTTTGGGGAAACGGAGGCACAGCAACTGTTGGAGAAGGGAGCCCTGGGAGCCCTGAGTGCCGCAGGCTTCTGTGGCCCTGGCAGCTCGGCCCAGAGTCAATGGACTAGGGCCAGCCAGGGGACTTTCCGACAAGGGCCAGCTGGTGGTATTTTAGGTCTTGGGGGCCGTGCCGTCTCTGTTATGAGCACGCAGCCCTGACGTGCTTGAAAGCAGCCACAGACGGTGGTGACAAGCGTGGACATGCTCCAGGAAGACTTGATTTGGGGACCCTGACATTGGAATTTGCATCTTTTTTTTTTTCTGAGATGTTCAAACACAAGTAAATGTGAGATTAAGAGGGGGATCCCTCCTACCCAAGCTTGGGGGTGGGTCCAGGACCCTGGAAGGCCTCCATTTGCCATGGGGAGGCTGTGAATCTGAGCCTGAGAGCCATTCTGAGGGGTGGGTGATACCTACCTGCAGGCCCCCCCACCACGCCTGCCCAGGCCTGGTCCTGCGCTGCAGAGCCAAGGACGGGAGATGGGGTTAGACTTGGGGCCCTCACGGACCAGCCTCAGCCACCGAGCGCTCACCCCCTGCACACAGGCCTGGTGGGTGGGCAGGCTCCAGGCTCCAGGGCCCCTCCCAACTCTTCCTGTGGGCCCCAGGCCCAGGGCTGCCATCTATGACCCAAAACCTGCGAGCGACTCTCCTGGCCTGTGGGGATGTGGTGGGGACGCCCGGGGATGCGCTCAGGAGTTGCAAAACCTCATGAGCTTGCTGGGAGCGGGGCTCTGAGGACAGCCCATCAGTGGCTCCTGTGAGACCCACATGAGGCTTCCATTCAGAGCAGCCCTCCGAATGCCAGGGTCAGGACTTGAAACCCTTCTAGATGTTTCTGGGCTTGTCCCTGAGAATCCCCAAGACTGCTGGCCTCCCCGGAGGCAAGGGGCCTGGACTCCTGAGCCTCTGCATGCTGGACAAAGGGCCCTACCCAGTGTGGCCTGATGAGGGGTCCCTGCAGGAATCACAGGTACAGCCCACCAGCCCAGGGCATGTGGGAGGCCCAGGCATAAAGACTGGGTGTCACTGAAGGTCGGCACCACCCACTCCCCTAACACCCCGCAGGGGATGGGGGGCCCAGCTGCTGCCCATGGCAGAGGCCAGGCTTGGTGGCCTGACCCCAGTGAGAACCCCACGCACAGAGCAGGGCCCCACTCACACTGGATCTGCTCGTGCACCACCAGGGCGAAGTGGTCCATCTCCAGGATGTGCGAGAGCCTGCCCAGCGTGTCCGTGAGGCGGATCTGCAAGGGAAGCGTGGTCAGTGGCAGGGGGAACATGGCCCCACGAGTTTTCTGTGGAGTGAGAGGGGATGCGATGGTGGGTCCTGCAAAGCCCACCCGGGAGGCAGTGGCAGCCGAACGTGGGAAATACGTGGATTCGGGTGACGTCTCGGGTGTGTGTGTGAGATGGGAAAGAAGTCGAATTCACTCCTAGGTTTGGGCAGAACCCTCAGCCTTTCCAGTGTCAAGAGCCACACCTGCATGTCCCAGGGGATCCGTGTGGAAGGTCACACAAACTTTCCTGGGCCACCCTCAGGGCAGCAGAGGGTGGGTGTCTCAGGACAACCACGGAGTCTGACCAGCCCGGCAAGGAGCCACCGTGGGCTTCTCCCAGAATGTTCTAGCTCTTGTTGGATAACCAAGTGCATGCACAGGCAAATGAGGCTGGGCAGGAGAAAGACCCCGGCAGACGCCGCATGGTGCCCGGGACAGCCTCTGAGCGCGAATGACCTCCTTAAGTCCCCAAAACACGGCTGGTGTGGATGAGCCTGCACTGATGAGAGCCTGCTCTCCGGCTGCTGCACTTGTAAAGTGGGTGCTTCTCAGCTTCATGGTTTGAGGGGTGCAGCCAGCTTCGGCCTAAGTGGTGTTGAGGGTCGAGGACCCAGCACCCCCACACGGGAAGCGCGGTGTCCCGCCTTCGAGGCTGGAGTACTCTGGCACCCTCTGGGGTCCCGAAGTGCCTGAGTACCTGTTTGAGCCGCGTGTAGGTGACTGCGCACCTGTTTGAACTGCGTGTAGGTGACCGCGCACCTGTTTGAGCTGCCTGTAGCTGACCGGGCACCTGTTTGAGCTGCCTGTAGGTGACCGCGCACCTGTTTGAGCTGCCTGTAGGTGACTGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGCGCACCCGTTTGAGCTGCCTGTAGGTGACCGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGGGCACCCGTTTGAGCTGCCTGTAGGTGACTGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGCGCACCCGCTTGAGCTGCCTGTAGCTGACCGCGCACCTGTTTGAGCTGCCTGTAGGTGACCGGGTACCTGTTTGAGCTGCCTGTAGGTGACCGCTCACCTGTTTGAGCTGCCTGTAGGTGACCGCGCACCTGTTTGAGCTGCGTGTAGGTGACCGGGCACCTGTTTGAGCTGCCTGTAGGTGACTGCGCATCTGTTTGAGCTGCCTGTAGGTGACTGGGTACCTGTTTGAACTGCTTGTAGATGACTTTGCCAACTTGGTCTGACGGCTGCACCTTCCCGGCAAGCAGGGACGAGAGCATGTTCCCAAGCGTCACCATTCCCAGGATTACCCTGTGGGACGGGGGCAGGCAGGGGTCAGCGCTCATACCTCACCCCTCCCAGGACGGTGGGGCACACGCTCAGCTGCCCCAGGGAGGAGCGCTCTCTGGCCACACATGGAAGTCCTCTGCCACGAGCCTACACGCGGCAGGAACCAGTCTGGGCCCTGGTGGGGAGAAAGAAACCAAGAGTCCTTGGACCCGTTCAGCCAGGGTCAAGGGTGACCAGCCGTCAGGTTTCCGCGACGTGGGGCTCTCAGTGGTCACTGGGCATGTGTGCCAAGGCTTTCTGCTGTCAGACATGTCCTCGGGGCATCTCTCCCCTGACCTCCAGGTGGGCCCAGGACAGCCTGCACACAAAGGGTGGGTGGGCTGAGGTCTGAGGGCCTGGAGTGAGCACGGCAGCCCTGCCCCAGGCTGCTCAGGGACCGGCAAGGGGCCTCCAATGCCCTGAACGTCTGTATGAGGCGGCCCAGGCGGGCCTATCAGCCCAGCTGCAGGGTCTGCATGGCTGCCCTGTCCAGTGACACTGACGGGGTGGAGCTGGGCAGACAGAACCCAGGACTGAGCTCTGAGCAGGGGCTGAGACTGACCCCGCCTCATCCACCACGGGCGCCTGGTCGAAGCCCTTCTCCCGGAGGATCTCGATGGTGTGCCCACAG
|
TGAGGCAGAAGGATCAGTTGAGCACAGCAGGTCGAGGCTGCAGCGAGCTATGATGGCACTACTGCACTCCAGTCGGCAACAGAGCAAGACCCTGTCTCTAAAAACAGACAAAAACCCCTTGCCACCATGGGCAGCACACAGCTTCCATCTCTGGCCTGATTCTGTCTTCACCCCTCCTGCTTTCTCCTGGCAAGCGTAGACCCGGTGTTAATGCTGGCCGAGGCTCCCATGCCACATACCCAGACAGGGCTGTTGTGATGGTTAATTTTAATACAGATTAACGGGGCCGTGGGAGCCCAGGCATTGGTCACACGTCGTTCTGGGCATGTGTGAGGGGATTCCGGATTAGCACAAGAGTCAAGAGGCAGATAACGTGTGCTACTGTGGAGGGCCTCACCCAAGCAGTTGAAGGCCTGAATAGAACCAAAGGTGGAATTTCCTGCCTTGGGGCTTGAACTGCTGGCTCTCCAGTCTCCGGCCTGCCGCCTCACCCTGCAGATCTCAGGGTTTGTCAGCCTCCGTGATCTCATGATCCAGTTCCTTAACACAGATCTCGTTCCCTCTCTCTCCCCGCTCCCCACACATCCTCTTGGTCCTGCGTCTCCACAGGACCCTACACCAGCTGTCATGAGGCACAGAGGGGTGAGCAAGGTGCGGGTGAGGAAGAGCCCTCGGAGCCCGTCCCAACTCCGCCACGGCTGTCACTCCTCTCTTTGTAGGCAGAGGTCCCTTGGGGTGGCCCACTTAGAGCCCCAGGAAAAGATAGGGAACACAGATGAGATCAGCTCCTTGCATTTTGGGGAAACGGAGGCACAGCAACTGTTGGAGAAGGGAGCCCTGGGAGCCCTGAGTGCCGCAGGCTTCTGTGGCCCTGGCAGCTCGGCCCAGAGTCAATGGACTAGGGCCAGCCAGGGGACTTTCCGACAAGGGCCAGCTGGTGGTATTTTAGGTCTTGGGGGCCGTGCCGTCTCTGTTATGAGCACGCAGCCCTGACGTGCTTGAAAGCAGCCACAGACGGTGGTGACAAGCGTGGACATGCTCCAGGAAGACTTGATTTGGGGACCCTGACATTGGAATTTGCATCTTTTTTTTTTTCTGAGATGTTCAAACACAAGTAAATGTGAGATTAAGAGGGGGATCCCTCCTACCCAAGCTTGGGGGTGGGTCCAGGACCCTGGAAGGCCTCCATTTGCCATGGGGAGGCTGTGAATCTGAGCCTGAGAGCCATTCTGAGGGGTGGGTGATACCTACCTGCAGGCCCCCCCACCACGCCTGCCCAGGCCTGGTCCTGCGCTGCAGAGCCAAGGACGGGAGATGGGGTTAGACTTGGGGCCCTCACGGACCAGCCTCAGCCACCGAGCGCTCACCCCCTGCACACAGGCCTGGTGGGTGGGCAGGCTCCAGGCTCCAGGGCCCCTCCCAACTCTTCCTGTGGGCCCCAGGCCCAGGGCTGCCATCTATGACCCAAAACCTGCGAGCGACTCTCCTGGCCTGTGGGGATGTGGTGGGGACGCCCGGGGATGCGCTCAGGAGTTGCAAAACCTCATGAGCTTGCTGGGAGCGGGGCTCTGAGGACAGCCCATCAGTGGCTCCTGTGAGACCCACATGAGGCTTCCATTCAGAGCAGCCCTCCGAATGCCAGGGTCAGGACTTGAAACCCTTCTAGATGTTTCTGGGCTTGTCCCTGAGAATCCCCAAGACTGCTGGCCTCCCCGGAGGCAAGGGGCCTGGACTCCTGAGCCTCTGCATGCTGGACAAAGGGCCCTACCCAGTGTGGCCTGATGAGGGGTCCCTGCAGGAATCACAGGTACAGCCCACCAGCCCAGGGCATGTGGGAGGCCCAGGCATAAAGACTGGGTGTCACTGAAGGTCGGCACCACCCACTCCCCTAACACCCCGCAGGGGATGGGGGGCCCAGCTGCTGCCCATGGCAGAGGCCAGGCTTGGTGGCCTGACCCCAGTGAGAACCCCACGCACAGAGCAGGGCCCCACTCACACTGGATCTGCTCGTGCACCACCAGGGCGAAGTGGTCCATCTCCAGGATGTGCGAGCCTGCCCAGCGTGTCCGTGAGGCGGATCTGCAAGGGAAGCGTGGTCAGTGGCAGGGGGAACATGGCCCCACGAGTTTTCTGTGGAGTGAGAGGGGATGCGATGGTGGGTCCTGCAAAGCCCACCCGGGAGGCAGTGGCAGCCGAACGTGGGAAATACGTGGATTCGGGTGACGTCTCGGGTGTGTGTGTGAGATGGGAAAGAAGTCGAATTCACTCCTAGGTTTGGGCAGAACCCTCAGCCTTTCCAGTGTCAAGAGCCACACCTGCATGTCCCAGGGGATCCGTGTGGAAGGTCACACAAACTTTCCTGGGCCACCCTCAGGGCAGCAGAGGGTGGGTGTCTCAGGACAACCACGGAGTCTGACCAGCCCGGCAAGGAGCCACCGTGGGCTTCTCCCAGAATGTTCTAGCTCTTGTTGGATAACCAAGTGCATGCACAGGCAAATGAGGCTGGGCAGGAGAAAGACCCCGGCAGACGCCGCATGGTGCCCGGGACAGCCTCTGAGCGCGAATGACCTCCTTAAGTCCCCAAAACACGGCTGGTGTGGATGAGCCTGCACTGATGAGAGCCTGCTCTCCGGCTGCTGCACTTGTAAAGTGGGTGCTTCTCAGCTTCATGGTTTGAGGGGTGCAGCCAGCTTCGGCCTAAGTGGTGTTGAGGGTCGAGGACCCAGCACCCCCACACGGGAAGCGCGGTGTCCCGCCTTCGAGGCTGGAGTACTCTGGCACCCTCTGGGGTCCCGAAGTGCCTGAGTACCTGTTTGAGCCGCGTGTAGGTGACTGCGCACCTGTTTGAACTGCGTGTAGGTGACCGCGCACCTGTTTGAGCTGCCTGTAGCTGACCGGGCACCTGTTTGAGCTGCCTGTAGGTGACCGCGCACCTGTTTGAGCTGCCTGTAGGTGACTGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGCGCACCCGTTTGAGCTGCCTGTAGGTGACCGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGGGCACCCGTTTGAGCTGCCTGTAGGTGACTGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGCGCACCCGCTTGAGCTGCCTGTAGCTGACCGCGCACCTGTTTGAGCTGCCTGTAGGTGACCGGGTACCTGTTTGAGCTGCCTGTAGGTGACCGCTCACCTGTTTGAGCTGCCTGTAGGTGACCGCGCACCTGTTTGAGCTGCGTGTAGGTGACCGGGCACCTGTTTGAGCTGCCTGTAGGTGACTGCGCATCTGTTTGAGCTGCCTGTAGGTGACTGGGTACCTGTTTGAACTGCTTGTAGATGACTTTGCCAACTTGGTCTGACGGCTGCACCTTCCCGGCAAGCAGGGACGAGAGCATGTTCCCAAGCGTCACCATTCCCAGGATTACCCTGTGGGACGGGGGCAGGCAGGGGTCAGCGCTCATACCTCACCCCTCCCAGGACGGTGGGGCACACGCTCAGCTGCCCCAGGGAGGAGCGCTCTCTGGCCACACATGGAAGTCCTCTGCCACGAGCCTACACGCGGCAGGAACCAGTCTGGGCCCTGGTGGGGAGAAAGAAACCAAGAGTCCTTGGACCCGTTCAGCCAGGGTCAAGGGTGACCAGCCGTCAGGTTTCCGCGACGTGGGGCTCTCAGTGGTCACTGGGCATGTGTGCCAAGGCTTTCTGCTGTCAGACATGTCCTCGGGGCATCTCTCCCCTGACCTCCAGGTGGGCCCAGGACAGCCTGCACACAAAGGGTGGGTGGGCTGAGGTCTGAGGGCCTGGAGTGAGCACGGCAGCCCTGCCCCAGGCTGCTCAGGGACCGGCAAGGGGCCTCCAATGCCCTGAACGTCTGTATGAGGCGGCCCAGGCGGGCCTATCAGCCCAGCTGCAGGGTCTGCATGGCTGCCCTGTCCAGTGACACTGACGGGGTGGAGCTGGGCAGACAGAACCCAGGACTGAGCTCTGAGCAGGGGCTGAGACTGACCCCGCCTCATCCACCACGGGCGCCTGGTCGAAGCCCTTCTCCCGGAGGATCTCGATGGTGTGCCCACAGNN
|
pathogenic
| 319,375 |
Regarding the variant found on chromosome 21 at position 43059054 in gene CBS (cystathionine beta-synthase): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
benign
|
CGTGGGAAATACGTGGATTCGGGTGACGTCTCGGGTGTGTGTGTGAGATGGGAAAGAAGTCGAATTCACTCCTAGGTTTGGGCAGAACCCTCAGCCTTTCCAGTGTCAAGAGCCACACCTGCATGTCCCAGGGGATCCGTGTGGAAGGTCACACAAACTTTCCTGGGCCACCCTCAGGGCAGCAGAGGGTGGGTGTCTCAGGACAACCACGGAGTCTGACCAGCCCGGCAAGGAGCCACCGTGGGCTTCTCCCAGAATGTTCTAGCTCTTGTTGGATAACCAAGTGCATGCACAGGCAAATGAGGCTGGGCAGGAGAAAGACCCCGGCAGACGCCGCATGGTGCCCGGGACAGCCTCTGAGCGCGAATGACCTCCTTAAGTCCCCAAAACACGGCTGGTGTGGATGAGCCTGCACTGATGAGAGCCTGCTCTCCGGCTGCTGCACTTGTAAAGTGGGTGCTTCTCAGCTTCATGGTTTGAGGGGTGCAGCCAGCTTCGGCCTAAGTGGTGTTGAGGGTCGAGGACCCAGCACCCCCACACGGGAAGCGCGGTGTCCCGCCTTCGAGGCTGGAGTACTCTGGCACCCTCTGGGGTCCCGAAGTGCCTGAGTACCTGTTTGAGCCGCGTGTAGGTGACTGCGCACCTGTTTGAACTGCGTGTAGGTGACCGCGCACCTGTTTGAGCTGCCTGTAGCTGACCGGGCACCTGTTTGAGCTGCCTGTAGGTGACCGCGCACCTGTTTGAGCTGCCTGTAGGTGACTGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGCGCACCCGTTTGAGCTGCCTGTAGGTGACCGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGGGCACCCGTTTGAGCTGCCTGTAGGTGACTGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGCGCACCCGCTTGAGCTGCCTGTAGCTGACCGCGCACCTGTTTGAGCTGCCTGTAGGTGACCGGGTACCTGTTTGAGCTGCCTGTAGGTGACCGCTCACCTGTTTGAGCTGCCTGTAGGTGACCGCGCACCTGTTTGAGCTGCGTGTAGGTGACCGGGCACCTGTTTGAGCTGCCTGTAGGTGACTGCGCATCTGTTTGAGCTGCCTGTAGGTGACTGGGTACCTGTTTGAACTGCTTGTAGATGACTTTGCCAACTTGGTCTGACGGCTGCACCTTCCCGGCAAGCAGGGACGAGAGCATGTTCCCAAGCGTCACCATTCCCAGGATTACCCTGTGGGACGGGGGCAGGCAGGGGTCAGCGCTCATACCTCACCCCTCCCAGGACGGTGGGGCACACGCTCAGCTGCCCCAGGGAGGAGCGCTCTCTGGCCACACATGGAAGTCCTCTGCCACGAGCCTACACGCGGCAGGAACCAGTCTGGGCCCTGGTGGGGAGAAAGAAACCAAGAGTCCTTGGACCCGTTCAGCCAGGGTCAAGGGTGACCAGCCGTCAGGTTTCCGCGACGTGGGGCTCTCAGTGGTCACTGGGCATGTGTGCCAAGGCTTTCTGCTGTCAGACATGTCCTCGGGGCATCTCTCCCCTGACCTCCAGGTGGGCCCAGGACAGCCTGCACACAAAGGGTGGGTGGGCTGAGGTCTGAGGGCCTGGAGTGAGCACGGCAGCCCTGCCCCAGGCTGCTCAGGGACCGGCAAGGGGCCTCCAATGCCCTGAACGTCTGTATGAGGCGGCCCAGGCGGGCCTATCAGCCCAGCTGCAGGGTCTGCATGGCTGCCCTGTCCAGTGACACTGACGGGGTGGAGCTGGGCAGACAGAACCCAGGACTGAGCTCTGAGCAGGGGCTGAGACTGACCCCGCCTCATCCACCACGGGCGCCTGGTCGAAGCCCTTCTCCCGGAGGATCTCGATGGTGTGCCCACAGGTGATGGTCGGGAGCACGGTCAGCGGGGCTGACAGGCCCAGCTCCTGAACACGGAGGTGCCACCACCTGAGGGAAGAGGGCAGGTCGGGGGGATCAGGATAAGGACAAACGCTCTCGCACCCCCGCCGGCAGCACCTCAGCAGGAGGCCACAGGGACCGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCCACGGGGACCGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCCACGGGGGAGTGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCAGCGGGTCTCCGGCCGAGCGGTCTTACCAGGGCTTCTTCTCCGTGAGGTCCTCCTCCTTCAGAAAGCCCTTCTGCAGCATCCACCTGTCGCTCAGGAACTTGGTCCTGCGGGATGGGGGAGTCACCGAGTCCCCGCAGGGCCCCACCGGGCCCCCGCCCCTGCTGAGTGGCACGCACTGCCTGCCCAGCCCCTCTCCTGGACCTCACTGGTGCAGCAGAGACCCCCAAGTGCTGGCTGGAAGCCCCAGGGGGAAGCCTGGGGGCTGGACTTCCCGCCCCCATGGCCAACAAGCGTGTGTGAGCATGCACACAGCCATCGCTCAGGCACTCAGATAAACACGTCCTCTCATGCTCGCTCTCTGCCCCTCACACACTCACACGCACAGGTACACATGGCAGGCTGGCCAAGTATGTGGGGAGATGGTGTTCTTGCACTGACGGGGGTGGGCAGGAGCCCTGCACAGGGCATCTTGACCCTGGGCACCAGATGTGAATCACCCCACACTGGGGAACCCAACTGGGGGCACCCACCAGCCAGGCCTGGCCCTCCAAGGGCAGCTGAGCTCTCGGGAGCTGTGTAGCCGCTGCAGCTTGCAGGCCATGGAGGAAACCCTGCAGGTGCAGGGGACAGGGCATGGGGGTCTGTAGACACCCGCCCTGGTACCGCCTCCGGAGACCAGGTGCAGAGCAGCGCCAGTCTCAGCCTGGCTGCCCGGTGACCAGCGAGGTCTGTGGCGTTACTGTCCGAGGGGCCTCTGGGCAAAACAGTCACAGCAAGTCCTAGGGGGCCACCTGGGCAGCACTCGGTCCCAATCTGGAGTTTGGGGGAAGCAGCAGAGGGAGTCAGGGTGGATAGGAGGTGGCACAGGGCCCGGCCCAAGAGGACGTCAGTCCATGTGGCCAGGGCTACCCGTTGGAGCTCACGGACCCCAGAGCAGTGAGGGGGACAGACACCAGAGAGGAAGGGACAGGAGGGACAGAGAGGGAGCCACCGTCTTTCATGCCCCTCCTGTCAGGGCTGTCACTGCGAGTGTGCATTGATTTTCACAGCATTAAGAGGCTGGGAAGCCCCACAGCGTGAGGGCACGTGGGCAGGAGAGTGGAGGCGGTGCTCACAGGGCCCCGCTGGCCTCCTCCCCTCCCAGTTCTGGCTGCCGGTTCTCAGGTGAGGCGTGAGAGGCATCCAGGGAAGGGTGGCAGGATGGAGAGGAGCAGGGACCTGGGAGGGAAGCCGTGTCTTACATGTAGTTCCGCACTGAGTCGGGCAGAATGACCACGCAGCGCTGGCCCTCCTGCAGCTCCTGCGCGGCCTTCACGGCCACCGCCACCGTGCTGCCAGCACTGCCACCTGCAGAGAGGGCCACGAGTCAGACGCGCCAGGGTGAGCGTGCGTGGGTGCACACGTATGCATGAATTGTGCACGTGCACGCATGGGAGCATGTCAGACACACTCCGAAGGATCCGTCAAGAGGGGTTGCCTCGGGGAGAGGGGCTGGGAGGACCCCACTTCTCCGTGAGCATCGGCTTCTTCCTTGTGCACCATGGAGTTTCTGTGTCCACTCGGGGCTTCATAATGAGCTGGGGTGGGCACTGGTGCCAGGGAAATGCCTGCAGTGGGGCTGCGGCCCCTGGCAAACCTCCTGGCCCTGAGCCTAGAGCCAGCGATGCTACGAGGACGGAGCCCCCAGCACCACGCCTGCAGGCTGCCTGACTGCACACTGGGCTCTGCTTTATAAACAAGAGACCAAGGCTCACAGTGACACCAGCTGTCCCTAGGAGCCCTGAAGTCAGAGTCAGAGGCGTCTTCTCTGGGCTTAGTTTGAGGGTGCACACAGCAGTCGGGAAGGTCTAAGTCTGCAGTAGGAGCCCCCACAGGAAGAGAGGCACCCTCCTCTGTAACGGG
|
CGTGGGAAATACGTGGATTCGGGTGACGTCTCGGGTGTGTGTGTGAGATGGGAAAGAAGTCGAATTCACTCCTAGGTTTGGGCAGAACCCTCAGCCTTTCCAGTGTCAAGAGCCACACCTGCATGTCCCAGGGGATCCGTGTGGAAGGTCACACAAACTTTCCTGGGCCACCCTCAGGGCAGCAGAGGGTGGGTGTCTCAGGACAACCACGGAGTCTGACCAGCCCGGCAAGGAGCCACCGTGGGCTTCTCCCAGAATGTTCTAGCTCTTGTTGGATAACCAAGTGCATGCACAGGCAAATGAGGCTGGGCAGGAGAAAGACCCCGGCAGACGCCGCATGGTGCCCGGGACAGCCTCTGAGCGCGAATGACCTCCTTAAGTCCCCAAAACACGGCTGGTGTGGATGAGCCTGCACTGATGAGAGCCTGCTCTCCGGCTGCTGCACTTGTAAAGTGGGTGCTTCTCAGCTTCATGGTTTGAGGGGTGCAGCCAGCTTCGGCCTAAGTGGTGTTGAGGGTCGAGGACCCAGCACCCCCACACGGGAAGCGCGGTGTCCCGCCTTCGAGGCTGGAGTACTCTGGCACCCTCTGGGGTCCCGAAGTGCCTGAGTACCTGTTTGAGCCGCGTGTAGGTGACTGCGCACCTGTTTGAACTGCGTGTAGGTGACCGCGCACCTGTTTGAGCTGCCTGTAGCTGACCGGGCACCTGTTTGAGCTGCCTGTAGGTGACCGCGCACCTGTTTGAGCTGCCTGTAGGTGACTGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGCGCACCCGTTTGAGCTGCCTGTAGGTGACCGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGGGCACCCGTTTGAGCTGCCTGTAGGTGACTGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGCGCACCCGCTTGAGCTGCCTGTAGCTGACCGCGCACCTGTTTGAGCTGCCTGTAGGTGACCGGGTACCTGTTTGAGCTGCCTGTAGGTGACCGCTCACCTGTTTGAGCTGCCTGTAGGTGACCGCGCACCTGTTTGAGCTGCGTGTAGGTGACCGGGCACCTGTTTGAGCTGCCTGTAGGTGACTGCGCATCTGTTTGAGCTGCCTGTAGGTGACTGGGTACCTGTTTGAACTGCTTGTAGATGACTTTGCCAACTTGGTCTGACGGCTGCACCTTCCCGGCAAGCAGGGACGAGAGCATGTTCCCAAGCGTCACCATTCCCAGGATTACCCTGTGGGACGGGGGCAGGCAGGGGTCAGCGCTCATACCTCACCCCTCCCAGGACGGTGGGGCACACGCTCAGCTGCCCCAGGGAGGAGCGCTCTCTGGCCACACATGGAAGTCCTCTGCCACGAGCCTACACGCGGCAGGAACCAGTCTGGGCCCTGGTGGGGAGAAAGAAACCAAGAGTCCTTGGACCCGTTCAGCCAGGGTCAAGGGTGACCAGCCGTCAGGTTTCCGCGACGTGGGGCTCTCAGTGGTCACTGGGCATGTGTGCCAAGGCTTTCTGCTGTCAGACATGTCCTCGGGGCATCTCTCCCCTGACCTCCAGGTGGGCCCAGGACAGCCTGCACACAAAGGGTGGGTGGGCTGAGGTCTGAGGGCCTGGAGTGAGCACGGCAGCCCTGCCCCAGGCTGCTCAGGGACCGGCAAGGGGCCTCCAATGCCCTGAACGTCTGTATGAGGCGGCCCAGGCGGGCCTATCAGCCCAGCTGCAGGGTCTGCATGGCTGCCCTGTCCAGTGACACTGACGGGGTGGAGCTGGGCAGACAGAACCCAGGACTGAGCTCTGAGCAGGGGCTGAGACTGACCCCGCCTCATCCACCACGGGCGCCTGGTCGAAGCCCTTCTCCCGGAGGATCTCGATGGTGTGCCCACAGGTGATGGTCGGGAGCACGGTCAGCGGGGCTGACAGGCCCAGCTCCTGAACACGGAGGTGCCACCACCTGAGGGAAGAGGGCAGGTCGGGGGGATCAGGATAAGGACAAACGCTCTCGCACCCCCGCCGGCAGCACCTCAGCAGGAGGCCACAGGGACCGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCCACGGGGGAGTGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCAGCGGGTCTCCGGCCGAGCGGTCTTACCAGGGCTTCTTCTCCGTGAGGTCCTCCTCCTTCAGAAAGCCCTTCTGCAGCATCCACCTGTCGCTCAGGAACTTGGTCCTGCGGGATGGGGGAGTCACCGAGTCCCCGCAGGGCCCCACCGGGCCCCCGCCCCTGCTGAGTGGCACGCACTGCCTGCCCAGCCCCTCTCCTGGACCTCACTGGTGCAGCAGAGACCCCCAAGTGCTGGCTGGAAGCCCCAGGGGGAAGCCTGGGGGCTGGACTTCCCGCCCCCATGGCCAACAAGCGTGTGTGAGCATGCACACAGCCATCGCTCAGGCACTCAGATAAACACGTCCTCTCATGCTCGCTCTCTGCCCCTCACACACTCACACGCACAGGTACACATGGCAGGCTGGCCAAGTATGTGGGGAGATGGTGTTCTTGCACTGACGGGGGTGGGCAGGAGCCCTGCACAGGGCATCTTGACCCTGGGCACCAGATGTGAATCACCCCACACTGGGGAACCCAACTGGGGGCACCCACCAGCCAGGCCTGGCCCTCCAAGGGCAGCTGAGCTCTCGGGAGCTGTGTAGCCGCTGCAGCTTGCAGGCCATGGAGGAAACCCTGCAGGTGCAGGGGACAGGGCATGGGGGTCTGTAGACACCCGCCCTGGTACCGCCTCCGGAGACCAGGTGCAGAGCAGCGCCAGTCTCAGCCTGGCTGCCCGGTGACCAGCGAGGTCTGTGGCGTTACTGTCCGAGGGGCCTCTGGGCAAAACAGTCACAGCAAGTCCTAGGGGGCCACCTGGGCAGCACTCGGTCCCAATCTGGAGTTTGGGGGAAGCAGCAGAGGGAGTCAGGGTGGATAGGAGGTGGCACAGGGCCCGGCCCAAGAGGACGTCAGTCCATGTGGCCAGGGCTACCCGTTGGAGCTCACGGACCCCAGAGCAGTGAGGGGGACAGACACCAGAGAGGAAGGGACAGGAGGGACAGAGAGGGAGCCACCGTCTTTCATGCCCCTCCTGTCAGGGCTGTCACTGCGAGTGTGCATTGATTTTCACAGCATTAAGAGGCTGGGAAGCCCCACAGCGTGAGGGCACGTGGGCAGGAGAGTGGAGGCGGTGCTCACAGGGCCCCGCTGGCCTCCTCCCCTCCCAGTTCTGGCTGCCGGTTCTCAGGTGAGGCGTGAGAGGCATCCAGGGAAGGGTGGCAGGATGGAGAGGAGCAGGGACCTGGGAGGGAAGCCGTGTCTTACATGTAGTTCCGCACTGAGTCGGGCAGAATGACCACGCAGCGCTGGCCCTCCTGCAGCTCCTGCGCGGCCTTCACGGCCACCGCCACCGTGCTGCCAGCACTGCCACCTGCAGAGAGGGCCACGAGTCAGACGCGCCAGGGTGAGCGTGCGTGGGTGCACACGTATGCATGAATTGTGCACGTGCACGCATGGGAGCATGTCAGACACACTCCGAAGGATCCGTCAAGAGGGGTTGCCTCGGGGAGAGGGGCTGGGAGGACCCCACTTCTCCGTGAGCATCGGCTTCTTCCTTGTGCACCATGGAGTTTCTGTGTCCACTCGGGGCTTCATAATGAGCTGGGGTGGGCACTGGTGCCAGGGAAATGCCTGCAGTGGGGCTGCGGCCCCTGGCAAACCTCCTGGCCCTGAGCCTAGAGCCAGCGATGCTACGAGGACGGAGCCCCCAGCACCACGCCTGCAGGCTGCCTGACTGCACACTGGGCTCTGCTTTATAAACAAGAGACCAAGGCTCACAGTGACACCAGCTGTCCCTAGGAGCCCTGAAGTCAGAGTCAGAGGCGTCTTCTCTGGGCTTAGTTTGAGGGTGCACACAGCAGTCGGGAAGGTCTAAGTCTGCAGTAGGAGCCCCCACAGGAAGAGAGGCACCCTCCTCTGTAACGGGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
benign
| 319,419 |
Regarding the variant found on chromosome 21 at position 43059227 in gene CBS (cystathionine beta-synthase): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED', 'Homocystinuria']
|
TCAGGGCAGCAGAGGGTGGGTGTCTCAGGACAACCACGGAGTCTGACCAGCCCGGCAAGGAGCCACCGTGGGCTTCTCCCAGAATGTTCTAGCTCTTGTTGGATAACCAAGTGCATGCACAGGCAAATGAGGCTGGGCAGGAGAAAGACCCCGGCAGACGCCGCATGGTGCCCGGGACAGCCTCTGAGCGCGAATGACCTCCTTAAGTCCCCAAAACACGGCTGGTGTGGATGAGCCTGCACTGATGAGAGCCTGCTCTCCGGCTGCTGCACTTGTAAAGTGGGTGCTTCTCAGCTTCATGGTTTGAGGGGTGCAGCCAGCTTCGGCCTAAGTGGTGTTGAGGGTCGAGGACCCAGCACCCCCACACGGGAAGCGCGGTGTCCCGCCTTCGAGGCTGGAGTACTCTGGCACCCTCTGGGGTCCCGAAGTGCCTGAGTACCTGTTTGAGCCGCGTGTAGGTGACTGCGCACCTGTTTGAACTGCGTGTAGGTGACCGCGCACCTGTTTGAGCTGCCTGTAGCTGACCGGGCACCTGTTTGAGCTGCCTGTAGGTGACCGCGCACCTGTTTGAGCTGCCTGTAGGTGACTGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGCGCACCCGTTTGAGCTGCCTGTAGGTGACCGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGGGCACCCGTTTGAGCTGCCTGTAGGTGACTGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGCGCACCCGCTTGAGCTGCCTGTAGCTGACCGCGCACCTGTTTGAGCTGCCTGTAGGTGACCGGGTACCTGTTTGAGCTGCCTGTAGGTGACCGCTCACCTGTTTGAGCTGCCTGTAGGTGACCGCGCACCTGTTTGAGCTGCGTGTAGGTGACCGGGCACCTGTTTGAGCTGCCTGTAGGTGACTGCGCATCTGTTTGAGCTGCCTGTAGGTGACTGGGTACCTGTTTGAACTGCTTGTAGATGACTTTGCCAACTTGGTCTGACGGCTGCACCTTCCCGGCAAGCAGGGACGAGAGCATGTTCCCAAGCGTCACCATTCCCAGGATTACCCTGTGGGACGGGGGCAGGCAGGGGTCAGCGCTCATACCTCACCCCTCCCAGGACGGTGGGGCACACGCTCAGCTGCCCCAGGGAGGAGCGCTCTCTGGCCACACATGGAAGTCCTCTGCCACGAGCCTACACGCGGCAGGAACCAGTCTGGGCCCTGGTGGGGAGAAAGAAACCAAGAGTCCTTGGACCCGTTCAGCCAGGGTCAAGGGTGACCAGCCGTCAGGTTTCCGCGACGTGGGGCTCTCAGTGGTCACTGGGCATGTGTGCCAAGGCTTTCTGCTGTCAGACATGTCCTCGGGGCATCTCTCCCCTGACCTCCAGGTGGGCCCAGGACAGCCTGCACACAAAGGGTGGGTGGGCTGAGGTCTGAGGGCCTGGAGTGAGCACGGCAGCCCTGCCCCAGGCTGCTCAGGGACCGGCAAGGGGCCTCCAATGCCCTGAACGTCTGTATGAGGCGGCCCAGGCGGGCCTATCAGCCCAGCTGCAGGGTCTGCATGGCTGCCCTGTCCAGTGACACTGACGGGGTGGAGCTGGGCAGACAGAACCCAGGACTGAGCTCTGAGCAGGGGCTGAGACTGACCCCGCCTCATCCACCACGGGCGCCTGGTCGAAGCCCTTCTCCCGGAGGATCTCGATGGTGTGCCCACAGGTGATGGTCGGGAGCACGGTCAGCGGGGCTGACAGGCCCAGCTCCTGAACACGGAGGTGCCACCACCTGAGGGAAGAGGGCAGGTCGGGGGGATCAGGATAAGGACAAACGCTCTCGCACCCCCGCCGGCAGCACCTCAGCAGGAGGCCACAGGGACCGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCCACGGGGACCGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCCACGGGGGAGTGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCAGCGGGTCTCCGGCCGAGCGGTCTTACCAGGGCTTCTTCTCCGTGAGGTCCTCCTCCTTCAGAAAGCCCTTCTGCAGCATCCACCTGTCGCTCAGGAACTTGGTCCTGCGGGATGGGGGAGTCACCGAGTCCCCGCAGGGCCCCACCGGGCCCCCGCCCCTGCTGAGTGGCACGCACTGCCTGCCCAGCCCCTCTCCTGGACCTCACTGGTGCAGCAGAGACCCCCAAGTGCTGGCTGGAAGCCCCAGGGGGAAGCCTGGGGGCTGGACTTCCCGCCCCCATGGCCAACAAGCGTGTGTGAGCATGCACACAGCCATCGCTCAGGCACTCAGATAAACACGTCCTCTCATGCTCGCTCTCTGCCCCTCACACACTCACACGCACAGGTACACATGGCAGGCTGGCCAAGTATGTGGGGAGATGGTGTTCTTGCACTGACGGGGGTGGGCAGGAGCCCTGCACAGGGCATCTTGACCCTGGGCACCAGATGTGAATCACCCCACACTGGGGAACCCAACTGGGGGCACCCACCAGCCAGGCCTGGCCCTCCAAGGGCAGCTGAGCTCTCGGGAGCTGTGTAGCCGCTGCAGCTTGCAGGCCATGGAGGAAACCCTGCAGGTGCAGGGGACAGGGCATGGGGGTCTGTAGACACCCGCCCTGGTACCGCCTCCGGAGACCAGGTGCAGAGCAGCGCCAGTCTCAGCCTGGCTGCCCGGTGACCAGCGAGGTCTGTGGCGTTACTGTCCGAGGGGCCTCTGGGCAAAACAGTCACAGCAAGTCCTAGGGGGCCACCTGGGCAGCACTCGGTCCCAATCTGGAGTTTGGGGGAAGCAGCAGAGGGAGTCAGGGTGGATAGGAGGTGGCACAGGGCCCGGCCCAAGAGGACGTCAGTCCATGTGGCCAGGGCTACCCGTTGGAGCTCACGGACCCCAGAGCAGTGAGGGGGACAGACACCAGAGAGGAAGGGACAGGAGGGACAGAGAGGGAGCCACCGTCTTTCATGCCCCTCCTGTCAGGGCTGTCACTGCGAGTGTGCATTGATTTTCACAGCATTAAGAGGCTGGGAAGCCCCACAGCGTGAGGGCACGTGGGCAGGAGAGTGGAGGCGGTGCTCACAGGGCCCCGCTGGCCTCCTCCCCTCCCAGTTCTGGCTGCCGGTTCTCAGGTGAGGCGTGAGAGGCATCCAGGGAAGGGTGGCAGGATGGAGAGGAGCAGGGACCTGGGAGGGAAGCCGTGTCTTACATGTAGTTCCGCACTGAGTCGGGCAGAATGACCACGCAGCGCTGGCCCTCCTGCAGCTCCTGCGCGGCCTTCACGGCCACCGCCACCGTGCTGCCAGCACTGCCACCTGCAGAGAGGGCCACGAGTCAGACGCGCCAGGGTGAGCGTGCGTGGGTGCACACGTATGCATGAATTGTGCACGTGCACGCATGGGAGCATGTCAGACACACTCCGAAGGATCCGTCAAGAGGGGTTGCCTCGGGGAGAGGGGCTGGGAGGACCCCACTTCTCCGTGAGCATCGGCTTCTTCCTTGTGCACCATGGAGTTTCTGTGTCCACTCGGGGCTTCATAATGAGCTGGGGTGGGCACTGGTGCCAGGGAAATGCCTGCAGTGGGGCTGCGGCCCCTGGCAAACCTCCTGGCCCTGAGCCTAGAGCCAGCGATGCTACGAGGACGGAGCCCCCAGCACCACGCCTGCAGGCTGCCTGACTGCACACTGGGCTCTGCTTTATAAACAAGAGACCAAGGCTCACAGTGACACCAGCTGTCCCTAGGAGCCCTGAAGTCAGAGTCAGAGGCGTCTTCTCTGGGCTTAGTTTGAGGGTGCACACAGCAGTCGGGAAGGTCTAAGTCTGCAGTAGGAGCCCCCACAGGAAGAGAGGCACCCTCCTCTGTAACGGGGCCCATGGACCTGCTTTCCAGCCCCAAAGGCAGGGGCTTGTTTCTCCACCAACATGGGGAGCAGGGAGACTGAGACAGGGAGAGCCCAACGATTATGGGCACCAAGTCACCTTTCGTGACAGATTCATCTGGAAAATGCTTTTCTTTTCTTTTTTTTTTTTTTGAGATGGAGT
|
TCAGGGCAGCAGAGGGTGGGTGTCTCAGGACAACCACGGAGTCTGACCAGCCCGGCAAGGAGCCACCGTGGGCTTCTCCCAGAATGTTCTAGCTCTTGTTGGATAACCAAGTGCATGCACAGGCAAATGAGGCTGGGCAGGAGAAAGACCCCGGCAGACGCCGCATGGTGCCCGGGACAGCCTCTGAGCGCGAATGACCTCCTTAAGTCCCCAAAACACGGCTGGTGTGGATGAGCCTGCACTGATGAGAGCCTGCTCTCCGGCTGCTGCACTTGTAAAGTGGGTGCTTCTCAGCTTCATGGTTTGAGGGGTGCAGCCAGCTTCGGCCTAAGTGGTGTTGAGGGTCGAGGACCCAGCACCCCCACACGGGAAGCGCGGTGTCCCGCCTTCGAGGCTGGAGTACTCTGGCACCCTCTGGGGTCCCGAAGTGCCTGAGTACCTGTTTGAGCCGCGTGTAGGTGACTGCGCACCTGTTTGAACTGCGTGTAGGTGACCGCGCACCTGTTTGAGCTGCCTGTAGCTGACCGGGCACCTGTTTGAGCTGCCTGTAGGTGACCGCGCACCTGTTTGAGCTGCCTGTAGGTGACTGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGCGCACCCGTTTGAGCTGCCTGTAGGTGACCGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGGGCACCCGTTTGAGCTGCCTGTAGGTGACTGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGCGCACCCGCTTGAGCTGCCTGTAGCTGACCGCGCACCTGTTTGAGCTGCCTGTAGGTGACCGGGTACCTGTTTGAGCTGCCTGTAGGTGACCGCTCACCTGTTTGAGCTGCCTGTAGGTGACCGCGCACCTGTTTGAGCTGCGTGTAGGTGACCGGGCACCTGTTTGAGCTGCCTGTAGGTGACTGCGCATCTGTTTGAGCTGCCTGTAGGTGACTGGGTACCTGTTTGAACTGCTTGTAGATGACTTTGCCAACTTGGTCTGACGGCTGCACCTTCCCGGCAAGCAGGGACGAGAGCATGTTCCCAAGCGTCACCATTCCCAGGATTACCCTGTGGGACGGGGGCAGGCAGGGGTCAGCGCTCATACCTCACCCCTCCCAGGACGGTGGGGCACACGCTCAGCTGCCCCAGGGAGGAGCGCTCTCTGGCCACACATGGAAGTCCTCTGCCACGAGCCTACACGCGGCAGGAACCAGTCTGGGCCCTGGTGGGGAGAAAGAAACCAAGAGTCCTTGGACCCGTTCAGCCAGGGTCAAGGGTGACCAGCCGTCAGGTTTCCGCGACGTGGGGCTCTCAGTGGTCACTGGGCATGTGTGCCAAGGCTTTCTGCTGTCAGACATGTCCTCGGGGCATCTCTCCCCTGACCTCCAGGTGGGCCCAGGACAGCCTGCACACAAAGGGTGGGTGGGCTGAGGTCTGAGGGCCTGGAGTGAGCACGGCAGCCCTGCCCCAGGCTGCTCAGGGACCGGCAAGGGGCCTCCAATGCCCTGAACGTCTGTATGAGGCGGCCCAGGCGGGCCTATCAGCCCAGCTGCAGGGTCTGCATGGCTGCCCTGTCCAGTGACACTGACGGGGTGGAGCTGGGCAGACAGAACCCAGGACTGAGCTCTGAGCAGGGGCTGAGACTGACCCCGCCTCATCCACCACGGGCGCCTGGTCGAAGCCCTTCTCCCGGAGGATCTCGATGGTGTGCCCACAGGTGATGGTCGGGAGCACGGTCAGCGGGGCTGACAGGCCCAGCTCCTGAACACGGAGGTGCCACCACCTGAGGGAAGAGGGCAGGTCGGGGGGATCAGGATAAGGACAAACGCTCTCGCACCCCCGCCGGCAGCACCTCAGCAGGAGGCCACAGGGACCGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCCACGGGGACCGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCCACGGGGGAGTGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCAGCGGGTCTCCGGCCGAGCGGTCTTACCAGGCTTCTTCTCCGTGAGGTCCTCCTCCTTCAGAAAGCCCTTCTGCAGCATCCACCTGTCGCTCAGGAACTTGGTCCTGCGGGATGGGGGAGTCACCGAGTCCCCGCAGGGCCCCACCGGGCCCCCGCCCCTGCTGAGTGGCACGCACTGCCTGCCCAGCCCCTCTCCTGGACCTCACTGGTGCAGCAGAGACCCCCAAGTGCTGGCTGGAAGCCCCAGGGGGAAGCCTGGGGGCTGGACTTCCCGCCCCCATGGCCAACAAGCGTGTGTGAGCATGCACACAGCCATCGCTCAGGCACTCAGATAAACACGTCCTCTCATGCTCGCTCTCTGCCCCTCACACACTCACACGCACAGGTACACATGGCAGGCTGGCCAAGTATGTGGGGAGATGGTGTTCTTGCACTGACGGGGGTGGGCAGGAGCCCTGCACAGGGCATCTTGACCCTGGGCACCAGATGTGAATCACCCCACACTGGGGAACCCAACTGGGGGCACCCACCAGCCAGGCCTGGCCCTCCAAGGGCAGCTGAGCTCTCGGGAGCTGTGTAGCCGCTGCAGCTTGCAGGCCATGGAGGAAACCCTGCAGGTGCAGGGGACAGGGCATGGGGGTCTGTAGACACCCGCCCTGGTACCGCCTCCGGAGACCAGGTGCAGAGCAGCGCCAGTCTCAGCCTGGCTGCCCGGTGACCAGCGAGGTCTGTGGCGTTACTGTCCGAGGGGCCTCTGGGCAAAACAGTCACAGCAAGTCCTAGGGGGCCACCTGGGCAGCACTCGGTCCCAATCTGGAGTTTGGGGGAAGCAGCAGAGGGAGTCAGGGTGGATAGGAGGTGGCACAGGGCCCGGCCCAAGAGGACGTCAGTCCATGTGGCCAGGGCTACCCGTTGGAGCTCACGGACCCCAGAGCAGTGAGGGGGACAGACACCAGAGAGGAAGGGACAGGAGGGACAGAGAGGGAGCCACCGTCTTTCATGCCCCTCCTGTCAGGGCTGTCACTGCGAGTGTGCATTGATTTTCACAGCATTAAGAGGCTGGGAAGCCCCACAGCGTGAGGGCACGTGGGCAGGAGAGTGGAGGCGGTGCTCACAGGGCCCCGCTGGCCTCCTCCCCTCCCAGTTCTGGCTGCCGGTTCTCAGGTGAGGCGTGAGAGGCATCCAGGGAAGGGTGGCAGGATGGAGAGGAGCAGGGACCTGGGAGGGAAGCCGTGTCTTACATGTAGTTCCGCACTGAGTCGGGCAGAATGACCACGCAGCGCTGGCCCTCCTGCAGCTCCTGCGCGGCCTTCACGGCCACCGCCACCGTGCTGCCAGCACTGCCACCTGCAGAGAGGGCCACGAGTCAGACGCGCCAGGGTGAGCGTGCGTGGGTGCACACGTATGCATGAATTGTGCACGTGCACGCATGGGAGCATGTCAGACACACTCCGAAGGATCCGTCAAGAGGGGTTGCCTCGGGGAGAGGGGCTGGGAGGACCCCACTTCTCCGTGAGCATCGGCTTCTTCCTTGTGCACCATGGAGTTTCTGTGTCCACTCGGGGCTTCATAATGAGCTGGGGTGGGCACTGGTGCCAGGGAAATGCCTGCAGTGGGGCTGCGGCCCCTGGCAAACCTCCTGGCCCTGAGCCTAGAGCCAGCGATGCTACGAGGACGGAGCCCCCAGCACCACGCCTGCAGGCTGCCTGACTGCACACTGGGCTCTGCTTTATAAACAAGAGACCAAGGCTCACAGTGACACCAGCTGTCCCTAGGAGCCCTGAAGTCAGAGTCAGAGGCGTCTTCTCTGGGCTTAGTTTGAGGGTGCACACAGCAGTCGGGAAGGTCTAAGTCTGCAGTAGGAGCCCCCACAGGAAGAGAGGCACCCTCCTCTGTAACGGGGCCCATGGACCTGCTTTCCAGCCCCAAAGGCAGGGGCTTGTTTCTCCACCAACATGGGGAGCAGGGAGACTGAGACAGGGAGAGCCCAACGATTATGGGCACCAAGTCACCTTTCGTGACAGATTCATCTGGAAAATGCTTTTCTTTTCTTTTTTTTTTTTTTGAGATGGAGTN
|
pathogenic
| 319,423 |
Regarding the variant found on chromosome 21 at position 43059230 in gene CBS (cystathionine beta-synthase): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED']
|
GGGCAGCAGAGGGTGGGTGTCTCAGGACAACCACGGAGTCTGACCAGCCCGGCAAGGAGCCACCGTGGGCTTCTCCCAGAATGTTCTAGCTCTTGTTGGATAACCAAGTGCATGCACAGGCAAATGAGGCTGGGCAGGAGAAAGACCCCGGCAGACGCCGCATGGTGCCCGGGACAGCCTCTGAGCGCGAATGACCTCCTTAAGTCCCCAAAACACGGCTGGTGTGGATGAGCCTGCACTGATGAGAGCCTGCTCTCCGGCTGCTGCACTTGTAAAGTGGGTGCTTCTCAGCTTCATGGTTTGAGGGGTGCAGCCAGCTTCGGCCTAAGTGGTGTTGAGGGTCGAGGACCCAGCACCCCCACACGGGAAGCGCGGTGTCCCGCCTTCGAGGCTGGAGTACTCTGGCACCCTCTGGGGTCCCGAAGTGCCTGAGTACCTGTTTGAGCCGCGTGTAGGTGACTGCGCACCTGTTTGAACTGCGTGTAGGTGACCGCGCACCTGTTTGAGCTGCCTGTAGCTGACCGGGCACCTGTTTGAGCTGCCTGTAGGTGACCGCGCACCTGTTTGAGCTGCCTGTAGGTGACTGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGCGCACCCGTTTGAGCTGCCTGTAGGTGACCGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGGGCACCCGTTTGAGCTGCCTGTAGGTGACTGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGCGCACCCGCTTGAGCTGCCTGTAGCTGACCGCGCACCTGTTTGAGCTGCCTGTAGGTGACCGGGTACCTGTTTGAGCTGCCTGTAGGTGACCGCTCACCTGTTTGAGCTGCCTGTAGGTGACCGCGCACCTGTTTGAGCTGCGTGTAGGTGACCGGGCACCTGTTTGAGCTGCCTGTAGGTGACTGCGCATCTGTTTGAGCTGCCTGTAGGTGACTGGGTACCTGTTTGAACTGCTTGTAGATGACTTTGCCAACTTGGTCTGACGGCTGCACCTTCCCGGCAAGCAGGGACGAGAGCATGTTCCCAAGCGTCACCATTCCCAGGATTACCCTGTGGGACGGGGGCAGGCAGGGGTCAGCGCTCATACCTCACCCCTCCCAGGACGGTGGGGCACACGCTCAGCTGCCCCAGGGAGGAGCGCTCTCTGGCCACACATGGAAGTCCTCTGCCACGAGCCTACACGCGGCAGGAACCAGTCTGGGCCCTGGTGGGGAGAAAGAAACCAAGAGTCCTTGGACCCGTTCAGCCAGGGTCAAGGGTGACCAGCCGTCAGGTTTCCGCGACGTGGGGCTCTCAGTGGTCACTGGGCATGTGTGCCAAGGCTTTCTGCTGTCAGACATGTCCTCGGGGCATCTCTCCCCTGACCTCCAGGTGGGCCCAGGACAGCCTGCACACAAAGGGTGGGTGGGCTGAGGTCTGAGGGCCTGGAGTGAGCACGGCAGCCCTGCCCCAGGCTGCTCAGGGACCGGCAAGGGGCCTCCAATGCCCTGAACGTCTGTATGAGGCGGCCCAGGCGGGCCTATCAGCCCAGCTGCAGGGTCTGCATGGCTGCCCTGTCCAGTGACACTGACGGGGTGGAGCTGGGCAGACAGAACCCAGGACTGAGCTCTGAGCAGGGGCTGAGACTGACCCCGCCTCATCCACCACGGGCGCCTGGTCGAAGCCCTTCTCCCGGAGGATCTCGATGGTGTGCCCACAGGTGATGGTCGGGAGCACGGTCAGCGGGGCTGACAGGCCCAGCTCCTGAACACGGAGGTGCCACCACCTGAGGGAAGAGGGCAGGTCGGGGGGATCAGGATAAGGACAAACGCTCTCGCACCCCCGCCGGCAGCACCTCAGCAGGAGGCCACAGGGACCGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCCACGGGGACCGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCCACGGGGGAGTGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCAGCGGGTCTCCGGCCGAGCGGTCTTACCAGGGCTTCTTCTCCGTGAGGTCCTCCTCCTTCAGAAAGCCCTTCTGCAGCATCCACCTGTCGCTCAGGAACTTGGTCCTGCGGGATGGGGGAGTCACCGAGTCCCCGCAGGGCCCCACCGGGCCCCCGCCCCTGCTGAGTGGCACGCACTGCCTGCCCAGCCCCTCTCCTGGACCTCACTGGTGCAGCAGAGACCCCCAAGTGCTGGCTGGAAGCCCCAGGGGGAAGCCTGGGGGCTGGACTTCCCGCCCCCATGGCCAACAAGCGTGTGTGAGCATGCACACAGCCATCGCTCAGGCACTCAGATAAACACGTCCTCTCATGCTCGCTCTCTGCCCCTCACACACTCACACGCACAGGTACACATGGCAGGCTGGCCAAGTATGTGGGGAGATGGTGTTCTTGCACTGACGGGGGTGGGCAGGAGCCCTGCACAGGGCATCTTGACCCTGGGCACCAGATGTGAATCACCCCACACTGGGGAACCCAACTGGGGGCACCCACCAGCCAGGCCTGGCCCTCCAAGGGCAGCTGAGCTCTCGGGAGCTGTGTAGCCGCTGCAGCTTGCAGGCCATGGAGGAAACCCTGCAGGTGCAGGGGACAGGGCATGGGGGTCTGTAGACACCCGCCCTGGTACCGCCTCCGGAGACCAGGTGCAGAGCAGCGCCAGTCTCAGCCTGGCTGCCCGGTGACCAGCGAGGTCTGTGGCGTTACTGTCCGAGGGGCCTCTGGGCAAAACAGTCACAGCAAGTCCTAGGGGGCCACCTGGGCAGCACTCGGTCCCAATCTGGAGTTTGGGGGAAGCAGCAGAGGGAGTCAGGGTGGATAGGAGGTGGCACAGGGCCCGGCCCAAGAGGACGTCAGTCCATGTGGCCAGGGCTACCCGTTGGAGCTCACGGACCCCAGAGCAGTGAGGGGGACAGACACCAGAGAGGAAGGGACAGGAGGGACAGAGAGGGAGCCACCGTCTTTCATGCCCCTCCTGTCAGGGCTGTCACTGCGAGTGTGCATTGATTTTCACAGCATTAAGAGGCTGGGAAGCCCCACAGCGTGAGGGCACGTGGGCAGGAGAGTGGAGGCGGTGCTCACAGGGCCCCGCTGGCCTCCTCCCCTCCCAGTTCTGGCTGCCGGTTCTCAGGTGAGGCGTGAGAGGCATCCAGGGAAGGGTGGCAGGATGGAGAGGAGCAGGGACCTGGGAGGGAAGCCGTGTCTTACATGTAGTTCCGCACTGAGTCGGGCAGAATGACCACGCAGCGCTGGCCCTCCTGCAGCTCCTGCGCGGCCTTCACGGCCACCGCCACCGTGCTGCCAGCACTGCCACCTGCAGAGAGGGCCACGAGTCAGACGCGCCAGGGTGAGCGTGCGTGGGTGCACACGTATGCATGAATTGTGCACGTGCACGCATGGGAGCATGTCAGACACACTCCGAAGGATCCGTCAAGAGGGGTTGCCTCGGGGAGAGGGGCTGGGAGGACCCCACTTCTCCGTGAGCATCGGCTTCTTCCTTGTGCACCATGGAGTTTCTGTGTCCACTCGGGGCTTCATAATGAGCTGGGGTGGGCACTGGTGCCAGGGAAATGCCTGCAGTGGGGCTGCGGCCCCTGGCAAACCTCCTGGCCCTGAGCCTAGAGCCAGCGATGCTACGAGGACGGAGCCCCCAGCACCACGCCTGCAGGCTGCCTGACTGCACACTGGGCTCTGCTTTATAAACAAGAGACCAAGGCTCACAGTGACACCAGCTGTCCCTAGGAGCCCTGAAGTCAGAGTCAGAGGCGTCTTCTCTGGGCTTAGTTTGAGGGTGCACACAGCAGTCGGGAAGGTCTAAGTCTGCAGTAGGAGCCCCCACAGGAAGAGAGGCACCCTCCTCTGTAACGGGGCCCATGGACCTGCTTTCCAGCCCCAAAGGCAGGGGCTTGTTTCTCCACCAACATGGGGAGCAGGGAGACTGAGACAGGGAGAGCCCAACGATTATGGGCACCAAGTCACCTTTCGTGACAGATTCATCTGGAAAATGCTTTTCTTTTCTTTTTTTTTTTTTTGAGATGGAGTTTT
|
GGGCAGCAGAGGGTGGGTGTCTCAGGACAACCACGGAGTCTGACCAGCCCGGCAAGGAGCCACCGTGGGCTTCTCCCAGAATGTTCTAGCTCTTGTTGGATAACCAAGTGCATGCACAGGCAAATGAGGCTGGGCAGGAGAAAGACCCCGGCAGACGCCGCATGGTGCCCGGGACAGCCTCTGAGCGCGAATGACCTCCTTAAGTCCCCAAAACACGGCTGGTGTGGATGAGCCTGCACTGATGAGAGCCTGCTCTCCGGCTGCTGCACTTGTAAAGTGGGTGCTTCTCAGCTTCATGGTTTGAGGGGTGCAGCCAGCTTCGGCCTAAGTGGTGTTGAGGGTCGAGGACCCAGCACCCCCACACGGGAAGCGCGGTGTCCCGCCTTCGAGGCTGGAGTACTCTGGCACCCTCTGGGGTCCCGAAGTGCCTGAGTACCTGTTTGAGCCGCGTGTAGGTGACTGCGCACCTGTTTGAACTGCGTGTAGGTGACCGCGCACCTGTTTGAGCTGCCTGTAGCTGACCGGGCACCTGTTTGAGCTGCCTGTAGGTGACCGCGCACCTGTTTGAGCTGCCTGTAGGTGACTGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGCGCACCCGTTTGAGCTGCCTGTAGGTGACCGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGGGCACCCGTTTGAGCTGCCTGTAGGTGACTGGGCACCCGTTTGAGCTGCCTGTAGGTGACCGCGCACCCGCTTGAGCTGCCTGTAGCTGACCGCGCACCTGTTTGAGCTGCCTGTAGGTGACCGGGTACCTGTTTGAGCTGCCTGTAGGTGACCGCTCACCTGTTTGAGCTGCCTGTAGGTGACCGCGCACCTGTTTGAGCTGCGTGTAGGTGACCGGGCACCTGTTTGAGCTGCCTGTAGGTGACTGCGCATCTGTTTGAGCTGCCTGTAGGTGACTGGGTACCTGTTTGAACTGCTTGTAGATGACTTTGCCAACTTGGTCTGACGGCTGCACCTTCCCGGCAAGCAGGGACGAGAGCATGTTCCCAAGCGTCACCATTCCCAGGATTACCCTGTGGGACGGGGGCAGGCAGGGGTCAGCGCTCATACCTCACCCCTCCCAGGACGGTGGGGCACACGCTCAGCTGCCCCAGGGAGGAGCGCTCTCTGGCCACACATGGAAGTCCTCTGCCACGAGCCTACACGCGGCAGGAACCAGTCTGGGCCCTGGTGGGGAGAAAGAAACCAAGAGTCCTTGGACCCGTTCAGCCAGGGTCAAGGGTGACCAGCCGTCAGGTTTCCGCGACGTGGGGCTCTCAGTGGTCACTGGGCATGTGTGCCAAGGCTTTCTGCTGTCAGACATGTCCTCGGGGCATCTCTCCCCTGACCTCCAGGTGGGCCCAGGACAGCCTGCACACAAAGGGTGGGTGGGCTGAGGTCTGAGGGCCTGGAGTGAGCACGGCAGCCCTGCCCCAGGCTGCTCAGGGACCGGCAAGGGGCCTCCAATGCCCTGAACGTCTGTATGAGGCGGCCCAGGCGGGCCTATCAGCCCAGCTGCAGGGTCTGCATGGCTGCCCTGTCCAGTGACACTGACGGGGTGGAGCTGGGCAGACAGAACCCAGGACTGAGCTCTGAGCAGGGGCTGAGACTGACCCCGCCTCATCCACCACGGGCGCCTGGTCGAAGCCCTTCTCCCGGAGGATCTCGATGGTGTGCCCACAGGTGATGGTCGGGAGCACGGTCAGCGGGGCTGACAGGCCCAGCTCCTGAACACGGAGGTGCCACCACCTGAGGGAAGAGGGCAGGTCGGGGGGATCAGGATAAGGACAAACGCTCTCGCACCCCCGCCGGCAGCACCTCAGCAGGAGGCCACAGGGACCGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCCACGGGGACCGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCCACGGGGGAGTGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCAGCGGGTCTCCGGCCGAGCGGTCTTACCAGGGTTCTTCTCCGTGAGGTCCTCCTCCTTCAGAAAGCCCTTCTGCAGCATCCACCTGTCGCTCAGGAACTTGGTCCTGCGGGATGGGGGAGTCACCGAGTCCCCGCAGGGCCCCACCGGGCCCCCGCCCCTGCTGAGTGGCACGCACTGCCTGCCCAGCCCCTCTCCTGGACCTCACTGGTGCAGCAGAGACCCCCAAGTGCTGGCTGGAAGCCCCAGGGGGAAGCCTGGGGGCTGGACTTCCCGCCCCCATGGCCAACAAGCGTGTGTGAGCATGCACACAGCCATCGCTCAGGCACTCAGATAAACACGTCCTCTCATGCTCGCTCTCTGCCCCTCACACACTCACACGCACAGGTACACATGGCAGGCTGGCCAAGTATGTGGGGAGATGGTGTTCTTGCACTGACGGGGGTGGGCAGGAGCCCTGCACAGGGCATCTTGACCCTGGGCACCAGATGTGAATCACCCCACACTGGGGAACCCAACTGGGGGCACCCACCAGCCAGGCCTGGCCCTCCAAGGGCAGCTGAGCTCTCGGGAGCTGTGTAGCCGCTGCAGCTTGCAGGCCATGGAGGAAACCCTGCAGGTGCAGGGGACAGGGCATGGGGGTCTGTAGACACCCGCCCTGGTACCGCCTCCGGAGACCAGGTGCAGAGCAGCGCCAGTCTCAGCCTGGCTGCCCGGTGACCAGCGAGGTCTGTGGCGTTACTGTCCGAGGGGCCTCTGGGCAAAACAGTCACAGCAAGTCCTAGGGGGCCACCTGGGCAGCACTCGGTCCCAATCTGGAGTTTGGGGGAAGCAGCAGAGGGAGTCAGGGTGGATAGGAGGTGGCACAGGGCCCGGCCCAAGAGGACGTCAGTCCATGTGGCCAGGGCTACCCGTTGGAGCTCACGGACCCCAGAGCAGTGAGGGGGACAGACACCAGAGAGGAAGGGACAGGAGGGACAGAGAGGGAGCCACCGTCTTTCATGCCCCTCCTGTCAGGGCTGTCACTGCGAGTGTGCATTGATTTTCACAGCATTAAGAGGCTGGGAAGCCCCACAGCGTGAGGGCACGTGGGCAGGAGAGTGGAGGCGGTGCTCACAGGGCCCCGCTGGCCTCCTCCCCTCCCAGTTCTGGCTGCCGGTTCTCAGGTGAGGCGTGAGAGGCATCCAGGGAAGGGTGGCAGGATGGAGAGGAGCAGGGACCTGGGAGGGAAGCCGTGTCTTACATGTAGTTCCGCACTGAGTCGGGCAGAATGACCACGCAGCGCTGGCCCTCCTGCAGCTCCTGCGCGGCCTTCACGGCCACCGCCACCGTGCTGCCAGCACTGCCACCTGCAGAGAGGGCCACGAGTCAGACGCGCCAGGGTGAGCGTGCGTGGGTGCACACGTATGCATGAATTGTGCACGTGCACGCATGGGAGCATGTCAGACACACTCCGAAGGATCCGTCAAGAGGGGTTGCCTCGGGGAGAGGGGCTGGGAGGACCCCACTTCTCCGTGAGCATCGGCTTCTTCCTTGTGCACCATGGAGTTTCTGTGTCCACTCGGGGCTTCATAATGAGCTGGGGTGGGCACTGGTGCCAGGGAAATGCCTGCAGTGGGGCTGCGGCCCCTGGCAAACCTCCTGGCCCTGAGCCTAGAGCCAGCGATGCTACGAGGACGGAGCCCCCAGCACCACGCCTGCAGGCTGCCTGACTGCACACTGGGCTCTGCTTTATAAACAAGAGACCAAGGCTCACAGTGACACCAGCTGTCCCTAGGAGCCCTGAAGTCAGAGTCAGAGGCGTCTTCTCTGGGCTTAGTTTGAGGGTGCACACAGCAGTCGGGAAGGTCTAAGTCTGCAGTAGGAGCCCCCACAGGAAGAGAGGCACCCTCCTCTGTAACGGGGCCCATGGACCTGCTTTCCAGCCCCAAAGGCAGGGGCTTGTTTCTCCACCAACATGGGGAGCAGGGAGACTGAGACAGGGAGAGCCCAACGATTATGGGCACCAAGTCACCTTTCGTGACAGATTCATCTGGAAAATGCTTTTCTTTTCTTTTTTTTTTTTTTGAGATGGAGTTTTN
|
pathogenic
| 319,424 |
Chromosome 21, position 43060498, gene CBS (cystathionine beta-synthase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED']
|
CCAGGGTCAAGGGTGACCAGCCGTCAGGTTTCCGCGACGTGGGGCTCTCAGTGGTCACTGGGCATGTGTGCCAAGGCTTTCTGCTGTCAGACATGTCCTCGGGGCATCTCTCCCCTGACCTCCAGGTGGGCCCAGGACAGCCTGCACACAAAGGGTGGGTGGGCTGAGGTCTGAGGGCCTGGAGTGAGCACGGCAGCCCTGCCCCAGGCTGCTCAGGGACCGGCAAGGGGCCTCCAATGCCCTGAACGTCTGTATGAGGCGGCCCAGGCGGGCCTATCAGCCCAGCTGCAGGGTCTGCATGGCTGCCCTGTCCAGTGACACTGACGGGGTGGAGCTGGGCAGACAGAACCCAGGACTGAGCTCTGAGCAGGGGCTGAGACTGACCCCGCCTCATCCACCACGGGCGCCTGGTCGAAGCCCTTCTCCCGGAGGATCTCGATGGTGTGCCCACAGGTGATGGTCGGGAGCACGGTCAGCGGGGCTGACAGGCCCAGCTCCTGAACACGGAGGTGCCACCACCTGAGGGAAGAGGGCAGGTCGGGGGGATCAGGATAAGGACAAACGCTCTCGCACCCCCGCCGGCAGCACCTCAGCAGGAGGCCACAGGGACCGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCCACGGGGACCGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCCACGGGGGAGTGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCAGCGGGTCTCCGGCCGAGCGGTCTTACCAGGGCTTCTTCTCCGTGAGGTCCTCCTCCTTCAGAAAGCCCTTCTGCAGCATCCACCTGTCGCTCAGGAACTTGGTCCTGCGGGATGGGGGAGTCACCGAGTCCCCGCAGGGCCCCACCGGGCCCCCGCCCCTGCTGAGTGGCACGCACTGCCTGCCCAGCCCCTCTCCTGGACCTCACTGGTGCAGCAGAGACCCCCAAGTGCTGGCTGGAAGCCCCAGGGGGAAGCCTGGGGGCTGGACTTCCCGCCCCCATGGCCAACAAGCGTGTGTGAGCATGCACACAGCCATCGCTCAGGCACTCAGATAAACACGTCCTCTCATGCTCGCTCTCTGCCCCTCACACACTCACACGCACAGGTACACATGGCAGGCTGGCCAAGTATGTGGGGAGATGGTGTTCTTGCACTGACGGGGGTGGGCAGGAGCCCTGCACAGGGCATCTTGACCCTGGGCACCAGATGTGAATCACCCCACACTGGGGAACCCAACTGGGGGCACCCACCAGCCAGGCCTGGCCCTCCAAGGGCAGCTGAGCTCTCGGGAGCTGTGTAGCCGCTGCAGCTTGCAGGCCATGGAGGAAACCCTGCAGGTGCAGGGGACAGGGCATGGGGGTCTGTAGACACCCGCCCTGGTACCGCCTCCGGAGACCAGGTGCAGAGCAGCGCCAGTCTCAGCCTGGCTGCCCGGTGACCAGCGAGGTCTGTGGCGTTACTGTCCGAGGGGCCTCTGGGCAAAACAGTCACAGCAAGTCCTAGGGGGCCACCTGGGCAGCACTCGGTCCCAATCTGGAGTTTGGGGGAAGCAGCAGAGGGAGTCAGGGTGGATAGGAGGTGGCACAGGGCCCGGCCCAAGAGGACGTCAGTCCATGTGGCCAGGGCTACCCGTTGGAGCTCACGGACCCCAGAGCAGTGAGGGGGACAGACACCAGAGAGGAAGGGACAGGAGGGACAGAGAGGGAGCCACCGTCTTTCATGCCCCTCCTGTCAGGGCTGTCACTGCGAGTGTGCATTGATTTTCACAGCATTAAGAGGCTGGGAAGCCCCACAGCGTGAGGGCACGTGGGCAGGAGAGTGGAGGCGGTGCTCACAGGGCCCCGCTGGCCTCCTCCCCTCCCAGTTCTGGCTGCCGGTTCTCAGGTGAGGCGTGAGAGGCATCCAGGGAAGGGTGGCAGGATGGAGAGGAGCAGGGACCTGGGAGGGAAGCCGTGTCTTACATGTAGTTCCGCACTGAGTCGGGCAGAATGACCACGCAGCGCTGGCCCTCCTGCAGCTCCTGCGCGGCCTTCACGGCCACCGCCACCGTGCTGCCAGCACTGCCACCTGCAGAGAGGGCCACGAGTCAGACGCGCCAGGGTGAGCGTGCGTGGGTGCACACGTATGCATGAATTGTGCACGTGCACGCATGGGAGCATGTCAGACACACTCCGAAGGATCCGTCAAGAGGGGTTGCCTCGGGGAGAGGGGCTGGGAGGACCCCACTTCTCCGTGAGCATCGGCTTCTTCCTTGTGCACCATGGAGTTTCTGTGTCCACTCGGGGCTTCATAATGAGCTGGGGTGGGCACTGGTGCCAGGGAAATGCCTGCAGTGGGGCTGCGGCCCCTGGCAAACCTCCTGGCCCTGAGCCTAGAGCCAGCGATGCTACGAGGACGGAGCCCCCAGCACCACGCCTGCAGGCTGCCTGACTGCACACTGGGCTCTGCTTTATAAACAAGAGACCAAGGCTCACAGTGACACCAGCTGTCCCTAGGAGCCCTGAAGTCAGAGTCAGAGGCGTCTTCTCTGGGCTTAGTTTGAGGGTGCACACAGCAGTCGGGAAGGTCTAAGTCTGCAGTAGGAGCCCCCACAGGAAGAGAGGCACCCTCCTCTGTAACGGGGCCCATGGACCTGCTTTCCAGCCCCAAAGGCAGGGGCTTGTTTCTCCACCAACATGGGGAGCAGGGAGACTGAGACAGGGAGAGCCCAACGATTATGGGCACCAAGTCACCTTTCGTGACAGATTCATCTGGAAAATGCTTTTCTTTTCTTTTTTTTTTTTTTGAGATGGAGTTTTTGCTCTTATCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCATTACATCGGCTACTTTTTTTTTTTTTTTTGGTATTTTTAGTAGAGACGGGGTTTCTCCCTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGACCTCCCAAAGTGCTGGGATTATAGGCATGAGCCAACGCGCCTGGCTGGGAAATGGTTTTTCAATCAAGACTTTCTTCCAATCTCTAGTTTGGGGCTCAGCTAACGGGGGACTTGGCCATGCTGAGGGCTGGTTTCCTTCCACTTTCCCTGTCACCACCCCCAAAGTGACATGACACACGGAATGCACATGTAGAAACCTCACATGTCCCTGCCTGCGTTTTAGAAGCTGGTGTGTGCTCTCCGAGTCCCCAGAGGTCTAGATCAACTGTGGTCCCTACAGGGCCTCTGCTGCCTGTGTGGCTAGTCAGTGGCATTGCCAGCGGCCACCTGGTCTGTCCACCCCCAAGCAGGTGGGCAGAGGGGCACGGGGTAGGAGGAAGGTGAGCGGGGTCGAGCTGGACAGCCTCAGGCTCCAGTCCCCTCCCCAGCTGCTCCAGGGTGCTCGCAGCACCCAGTCCCGGCCATGGGCCCCGTCAATGCAGAGCCACCGCCCCAGGGGCCCTGGTGGACTTGATTAGAAACAATAAGTGCCATGAGAGCTTCAGCCTTGTTCTAGAAACACATTCTGGAAGGCAGCTCGAAGCCCCGCCCCATGGCCTCCTGCCCTCACCTGAGCAGGTGACCACACTGGGCAGGCAGACAACACCTGAGGCTCGTGGCCGCCGCAGTGACACTCCTCAGAACTGCTGTCTTACACATGCAGGTCGGTGGCTGACTGAGGGTGCGCCCCCAGCCATCCCCAGTGCCCCCTAGCCATCTCTGCCTTCCCCATACCCCCGTGCCCGCCACCCACTCACCGCACAGCAGCCCCTCTTGCGCGATCAGCATGCGGGCAAAGGTGAACGCCTCCTCATCGTTGCTCTTGAACCACTTGTCCACCACCTGAGCAGGACCCCACCACAGCCCGTCAGCGTGGGAGCCGCTCCCACGTGACCAAGAGGGTGAACAGCCTCATGGTGGACCCCGTGTCTAGGCGGTAGGACCCCAGAGGTCTCACCCCAGCCTCTCCCCCTGGGATCGGCACGTCTGCAG
|
CCAGGGTCAAGGGTGACCAGCCGTCAGGTTTCCGCGACGTGGGGCTCTCAGTGGTCACTGGGCATGTGTGCCAAGGCTTTCTGCTGTCAGACATGTCCTCGGGGCATCTCTCCCCTGACCTCCAGGTGGGCCCAGGACAGCCTGCACACAAAGGGTGGGTGGGCTGAGGTCTGAGGGCCTGGAGTGAGCACGGCAGCCCTGCCCCAGGCTGCTCAGGGACCGGCAAGGGGCCTCCAATGCCCTGAACGTCTGTATGAGGCGGCCCAGGCGGGCCTATCAGCCCAGCTGCAGGGTCTGCATGGCTGCCCTGTCCAGTGACACTGACGGGGTGGAGCTGGGCAGACAGAACCCAGGACTGAGCTCTGAGCAGGGGCTGAGACTGACCCCGCCTCATCCACCACGGGCGCCTGGTCGAAGCCCTTCTCCCGGAGGATCTCGATGGTGTGCCCACAGGTGATGGTCGGGAGCACGGTCAGCGGGGCTGACAGGCCCAGCTCCTGAACACGGAGGTGCCACCACCTGAGGGAAGAGGGCAGGTCGGGGGGATCAGGATAAGGACAAACGCTCTCGCACCCCCGCCGGCAGCACCTCAGCAGGAGGCCACAGGGACCGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCCACGGGGACCGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCCACGGGGGAGTGCTCTCCTGCCTGTCACACTGGGCAGGGCCAGCACAGGCAGCGGGTCTCCGGCCGAGCGGTCTTACCAGGGCTTCTTCTCCGTGAGGTCCTCCTCCTTCAGAAAGCCCTTCTGCAGCATCCACCTGTCGCTCAGGAACTTGGTCCTGCGGGATGGGGGAGTCACCGAGTCCCCGCAGGGCCCCACCGGGCCCCCGCCCCTGCTGAGTGGCACGCACTGCCTGCCCAGCCCCTCTCCTGGACCTCACTGGTGCAGCAGAGACCCCCAAGTGCTGGCTGGAAGCCCCAGGGGGAAGCCTGGGGGCTGGACTTCCCGCCCCCATGGCCAACAAGCGTGTGTGAGCATGCACACAGCCATCGCTCAGGCACTCAGATAAACACGTCCTCTCATGCTCGCTCTCTGCCCCTCACACACTCACACGCACAGGTACACATGGCAGGCTGGCCAAGTATGTGGGGAGATGGTGTTCTTGCACTGACGGGGGTGGGCAGGAGCCCTGCACAGGGCATCTTGACCCTGGGCACCAGATGTGAATCACCCCACACTGGGGAACCCAACTGGGGGCACCCACCAGCCAGGCCTGGCCCTCCAAGGGCAGCTGAGCTCTCGGGAGCTGTGTAGCCGCTGCAGCTTGCAGGCCATGGAGGAAACCCTGCAGGTGCAGGGGACAGGGCATGGGGGTCTGTAGACACCCGCCCTGGTACCGCCTCCGGAGACCAGGTGCAGAGCAGCGCCAGTCTCAGCCTGGCTGCCCGGTGACCAGCGAGGTCTGTGGCGTTACTGTCCGAGGGGCCTCTGGGCAAAACAGTCACAGCAAGTCCTAGGGGGCCACCTGGGCAGCACTCGGTCCCAATCTGGAGTTTGGGGGAAGCAGCAGAGGGAGTCAGGGTGGATAGGAGGTGGCACAGGGCCCGGCCCAAGAGGACGTCAGTCCATGTGGCCAGGGCTACCCGTTGGAGCTCACGGACCCCAGAGCAGTGAGGGGGACAGACACCAGAGAGGAAGGGACAGGAGGGACAGAGAGGGAGCCACCGTCTTTCATGCCCCTCCTGTCAGGGCTGTCACTGCGAGTGTGCATTGATTTTCACAGCATTAAGAGGCTGGGAAGCCCCACAGCGTGAGGGCACGTGGGCAGGAGAGTGGAGGCGGTGCTCACAGGGCCCCGCTGGCCTCCTCCCCTCCCAGTTCTGGCTGCCGGTTCTCAGGTGAGGCGTGAGAGGCATCCAGGGAAGGGTGGCAGGATGGAGAGGAGCAGGGACCTGGGAGGGAAGCCGTGTCTTACATGTAGTTCCGCACTGAGTCGGGCAGAATGACCACGCAGCGCTGGCCCTCCTGCAGCTCTGCGCGGCCTTCACGGCCACCGCCACCGTGCTGCCAGCACTGCCACCTGCAGAGAGGGCCACGAGTCAGACGCGCCAGGGTGAGCGTGCGTGGGTGCACACGTATGCATGAATTGTGCACGTGCACGCATGGGAGCATGTCAGACACACTCCGAAGGATCCGTCAAGAGGGGTTGCCTCGGGGAGAGGGGCTGGGAGGACCCCACTTCTCCGTGAGCATCGGCTTCTTCCTTGTGCACCATGGAGTTTCTGTGTCCACTCGGGGCTTCATAATGAGCTGGGGTGGGCACTGGTGCCAGGGAAATGCCTGCAGTGGGGCTGCGGCCCCTGGCAAACCTCCTGGCCCTGAGCCTAGAGCCAGCGATGCTACGAGGACGGAGCCCCCAGCACCACGCCTGCAGGCTGCCTGACTGCACACTGGGCTCTGCTTTATAAACAAGAGACCAAGGCTCACAGTGACACCAGCTGTCCCTAGGAGCCCTGAAGTCAGAGTCAGAGGCGTCTTCTCTGGGCTTAGTTTGAGGGTGCACACAGCAGTCGGGAAGGTCTAAGTCTGCAGTAGGAGCCCCCACAGGAAGAGAGGCACCCTCCTCTGTAACGGGGCCCATGGACCTGCTTTCCAGCCCCAAAGGCAGGGGCTTGTTTCTCCACCAACATGGGGAGCAGGGAGACTGAGACAGGGAGAGCCCAACGATTATGGGCACCAAGTCACCTTTCGTGACAGATTCATCTGGAAAATGCTTTTCTTTTCTTTTTTTTTTTTTTGAGATGGAGTTTTTGCTCTTATCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCATTACATCGGCTACTTTTTTTTTTTTTTTTGGTATTTTTAGTAGAGACGGGGTTTCTCCCTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGACCTCCCAAAGTGCTGGGATTATAGGCATGAGCCAACGCGCCTGGCTGGGAAATGGTTTTTCAATCAAGACTTTCTTCCAATCTCTAGTTTGGGGCTCAGCTAACGGGGGACTTGGCCATGCTGAGGGCTGGTTTCCTTCCACTTTCCCTGTCACCACCCCCAAAGTGACATGACACACGGAATGCACATGTAGAAACCTCACATGTCCCTGCCTGCGTTTTAGAAGCTGGTGTGTGCTCTCCGAGTCCCCAGAGGTCTAGATCAACTGTGGTCCCTACAGGGCCTCTGCTGCCTGTGTGGCTAGTCAGTGGCATTGCCAGCGGCCACCTGGTCTGTCCACCCCCAAGCAGGTGGGCAGAGGGGCACGGGGTAGGAGGAAGGTGAGCGGGGTCGAGCTGGACAGCCTCAGGCTCCAGTCCCCTCCCCAGCTGCTCCAGGGTGCTCGCAGCACCCAGTCCCGGCCATGGGCCCCGTCAATGCAGAGCCACCGCCCCAGGGGCCCTGGTGGACTTGATTAGAAACAATAAGTGCCATGAGAGCTTCAGCCTTGTTCTAGAAACACATTCTGGAAGGCAGCTCGAAGCCCCGCCCCATGGCCTCCTGCCCTCACCTGAGCAGGTGACCACACTGGGCAGGCAGACAACACCTGAGGCTCGTGGCCGCCGCAGTGACACTCCTCAGAACTGCTGTCTTACACATGCAGGTCGGTGGCTGACTGAGGGTGCGCCCCCAGCCATCCCCAGTGCCCCCTAGCCATCTCTGCCTTCCCCATACCCCCGTGCCCGCCACCCACTCACCGCACAGCAGCCCCTCTTGCGCGATCAGCATGCGGGCAAAGGTGAACGCCTCCTCATCGTTGCTCTTGAACCACTTGTCCACCACCTGAGCAGGACCCCACCACAGCCCGTCAGCGTGGGAGCCGCTCCCACGTGACCAAGAGGGTGAACAGCCTCATGGTGGACCCCGTGTCTAGGCGGTAGGACCCCAGAGGTCTCACCCCAGCCTCTCCCCCTGGGATCGGCACGTCTGCAGN
|
pathogenic
| 319,447 |
Does the variant on chromosome 21 at location 43062344 affecting gene CBS (cystathionine beta-synthase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED']
|
GAGTGGAGGCGGTGCTCACAGGGCCCCGCTGGCCTCCTCCCCTCCCAGTTCTGGCTGCCGGTTCTCAGGTGAGGCGTGAGAGGCATCCAGGGAAGGGTGGCAGGATGGAGAGGAGCAGGGACCTGGGAGGGAAGCCGTGTCTTACATGTAGTTCCGCACTGAGTCGGGCAGAATGACCACGCAGCGCTGGCCCTCCTGCAGCTCCTGCGCGGCCTTCACGGCCACCGCCACCGTGCTGCCAGCACTGCCACCTGCAGAGAGGGCCACGAGTCAGACGCGCCAGGGTGAGCGTGCGTGGGTGCACACGTATGCATGAATTGTGCACGTGCACGCATGGGAGCATGTCAGACACACTCCGAAGGATCCGTCAAGAGGGGTTGCCTCGGGGAGAGGGGCTGGGAGGACCCCACTTCTCCGTGAGCATCGGCTTCTTCCTTGTGCACCATGGAGTTTCTGTGTCCACTCGGGGCTTCATAATGAGCTGGGGTGGGCACTGGTGCCAGGGAAATGCCTGCAGTGGGGCTGCGGCCCCTGGCAAACCTCCTGGCCCTGAGCCTAGAGCCAGCGATGCTACGAGGACGGAGCCCCCAGCACCACGCCTGCAGGCTGCCTGACTGCACACTGGGCTCTGCTTTATAAACAAGAGACCAAGGCTCACAGTGACACCAGCTGTCCCTAGGAGCCCTGAAGTCAGAGTCAGAGGCGTCTTCTCTGGGCTTAGTTTGAGGGTGCACACAGCAGTCGGGAAGGTCTAAGTCTGCAGTAGGAGCCCCCACAGGAAGAGAGGCACCCTCCTCTGTAACGGGGCCCATGGACCTGCTTTCCAGCCCCAAAGGCAGGGGCTTGTTTCTCCACCAACATGGGGAGCAGGGAGACTGAGACAGGGAGAGCCCAACGATTATGGGCACCAAGTCACCTTTCGTGACAGATTCATCTGGAAAATGCTTTTCTTTTCTTTTTTTTTTTTTTGAGATGGAGTTTTTGCTCTTATCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCATTACATCGGCTACTTTTTTTTTTTTTTTTGGTATTTTTAGTAGAGACGGGGTTTCTCCCTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGACCTCCCAAAGTGCTGGGATTATAGGCATGAGCCAACGCGCCTGGCTGGGAAATGGTTTTTCAATCAAGACTTTCTTCCAATCTCTAGTTTGGGGCTCAGCTAACGGGGGACTTGGCCATGCTGAGGGCTGGTTTCCTTCCACTTTCCCTGTCACCACCCCCAAAGTGACATGACACACGGAATGCACATGTAGAAACCTCACATGTCCCTGCCTGCGTTTTAGAAGCTGGTGTGTGCTCTCCGAGTCCCCAGAGGTCTAGATCAACTGTGGTCCCTACAGGGCCTCTGCTGCCTGTGTGGCTAGTCAGTGGCATTGCCAGCGGCCACCTGGTCTGTCCACCCCCAAGCAGGTGGGCAGAGGGGCACGGGGTAGGAGGAAGGTGAGCGGGGTCGAGCTGGACAGCCTCAGGCTCCAGTCCCCTCCCCAGCTGCTCCAGGGTGCTCGCAGCACCCAGTCCCGGCCATGGGCCCCGTCAATGCAGAGCCACCGCCCCAGGGGCCCTGGTGGACTTGATTAGAAACAATAAGTGCCATGAGAGCTTCAGCCTTGTTCTAGAAACACATTCTGGAAGGCAGCTCGAAGCCCCGCCCCATGGCCTCCTGCCCTCACCTGAGCAGGTGACCACACTGGGCAGGCAGACAACACCTGAGGCTCGTGGCCGCCGCAGTGACACTCCTCAGAACTGCTGTCTTACACATGCAGGTCGGTGGCTGACTGAGGGTGCGCCCCCAGCCATCCCCAGTGCCCCCTAGCCATCTCTGCCTTCCCCATACCCCCGTGCCCGCCACCCACTCACCGCACAGCAGCCCCTCTTGCGCGATCAGCATGCGGGCAAAGGTGAACGCCTCCTCATCGTTGCTCTTGAACCACTTGTCCACCACCTGAGCAGGACCCCACCACAGCCCGTCAGCGTGGGAGCCGCTCCCACGTGACCAAGAGGGTGAACAGCCTCATGGTGGACCCCGTGTCTAGGCGGTAGGACCCCAGAGGTCTCACCCCAGCCTCTCCCCCTGGGATCGGCACGTCTGCAGACTTTCCAGTTCCAACACGTTTTGCAGACAGCAAAACTGCCCGCCAGCCCCACTGAGCATCCGTGTGACCCACACCGGCCCTTCGGTCTCTGCTCTCCCTCAGGCCAAAGTCAGCTTTTTGGCTCTTAACAGACTTTTCCGGGGCCTTAATTTTCACACGTTTTCCCTGCTCCCTGCCTGTGCCACCTGGGCTACATCCCTTGGTGAGGTCAGGCCACGTGTGCGGACATCGTCCCCCAGTCTACTTTGTCTCGACCTTCGAGACCAGCTTCTCACCATGCGTGCGGGGCTTGCCCTTCTGTTTCAGTGGAGAAGCTGGTTGGGGCCCAGGGTCAGCCAGGCTCCCCAGTGTGAGGGTGAGTTACAGGCTGCACCGGCACTGTGGCCGGGCTCTGGACTCGACCTACCGTCCTGTCCAGCACCGTGGGGATGAAGTCGTAGCCGATCCCTTCCACCTCGTAGGTTGTCTGCTCCGTCTGGTTCAGCTCCTCCGGCTCTGCGAGGATGGACCCTTCGGGATCCACCCCAATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGGCCAGCAAAAGCCCCGCCTGGACATGCCTCGATATTCTATTATGGGAGTGGCCAATACCGCCGTTAACAACTGCCTGTTAATGATCTGCCTGTGGGTGGTGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAACCCTCTCCCAACTCCCACAAGCCCCAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTA
|
GAGTGGAGGCGGTGCTCACAGGGCCCCGCTGGCCTCCTCCCCTCCCAGTTCTGGCTGCCGGTTCTCAGGTGAGGCGTGAGAGGCATCCAGGGAAGGGTGGCAGGATGGAGAGGAGCAGGGACCTGGGAGGGAAGCCGTGTCTTACATGTAGTTCCGCACTGAGTCGGGCAGAATGACCACGCAGCGCTGGCCCTCCTGCAGCTCCTGCGCGGCCTTCACGGCCACCGCCACCGTGCTGCCAGCACTGCCACCTGCAGAGAGGGCCACGAGTCAGACGCGCCAGGGTGAGCGTGCGTGGGTGCACACGTATGCATGAATTGTGCACGTGCACGCATGGGAGCATGTCAGACACACTCCGAAGGATCCGTCAAGAGGGGTTGCCTCGGGGAGAGGGGCTGGGAGGACCCCACTTCTCCGTGAGCATCGGCTTCTTCCTTGTGCACCATGGAGTTTCTGTGTCCACTCGGGGCTTCATAATGAGCTGGGGTGGGCACTGGTGCCAGGGAAATGCCTGCAGTGGGGCTGCGGCCCCTGGCAAACCTCCTGGCCCTGAGCCTAGAGCCAGCGATGCTACGAGGACGGAGCCCCCAGCACCACGCCTGCAGGCTGCCTGACTGCACACTGGGCTCTGCTTTATAAACAAGAGACCAAGGCTCACAGTGACACCAGCTGTCCCTAGGAGCCCTGAAGTCAGAGTCAGAGGCGTCTTCTCTGGGCTTAGTTTGAGGGTGCACACAGCAGTCGGGAAGGTCTAAGTCTGCAGTAGGAGCCCCCACAGGAAGAGAGGCACCCTCCTCTGTAACGGGGCCCATGGACCTGCTTTCCAGCCCCAAAGGCAGGGGCTTGTTTCTCCACCAACATGGGGAGCAGGGAGACTGAGACAGGGAGAGCCCAACGATTATGGGCACCAAGTCACCTTTCGTGACAGATTCATCTGGAAAATGCTTTTCTTTTCTTTTTTTTTTTTTTGAGATGGAGTTTTTGCTCTTATCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCATTACATCGGCTACTTTTTTTTTTTTTTTTGGTATTTTTAGTAGAGACGGGGTTTCTCCCTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGACCTCCCAAAGTGCTGGGATTATAGGCATGAGCCAACGCGCCTGGCTGGGAAATGGTTTTTCAATCAAGACTTTCTTCCAATCTCTAGTTTGGGGCTCAGCTAACGGGGGACTTGGCCATGCTGAGGGCTGGTTTCCTTCCACTTTCCCTGTCACCACCCCCAAAGTGACATGACACACGGAATGCACATGTAGAAACCTCACATGTCCCTGCCTGCGTTTTAGAAGCTGGTGTGTGCTCTCCGAGTCCCCAGAGGTCTAGATCAACTGTGGTCCCTACAGGGCCTCTGCTGCCTGTGTGGCTAGTCAGTGGCATTGCCAGCGGCCACCTGGTCTGTCCACCCCCAAGCAGGTGGGCAGAGGGGCACGGGGTAGGAGGAAGGTGAGCGGGGTCGAGCTGGACAGCCTCAGGCTCCAGTCCCCTCCCCAGCTGCTCCAGGGTGCTCGCAGCACCCAGTCCCGGCCATGGGCCCCGTCAATGCAGAGCCACCGCCCCAGGGGCCCTGGTGGACTTGATTAGAAACAATAAGTGCCATGAGAGCTTCAGCCTTGTTCTAGAAACACATTCTGGAAGGCAGCTCGAAGCCCCGCCCCATGGCCTCCTGCCCTCACCTGAGCAGGTGACCACACTGGGCAGGCAGACAACACCTGAGGCTCGTGGCCGCCGCAGTGACACTCCTCAGAACTGCTGTCTTACACATGCAGGTCGGTGGCTGACTGAGGGTGCGCCCCCAGCCATCCCCAGTGCCCCCTAGCCATCTCTGCCTTCCCCATACCCCCGTGCCCGCCACCCACTCACCGCACAGCAGCCCCTCTTGCGCGATCAGCATGCAAGCAAAGGTGAACGCCTCCTCATCGTTGCTCTTGAACCACTTGTCCACCACCTGAGCAGGACCCCACCACAGCCCGTCAGCGTGGGAGCCGCTCCCACGTGACCAAGAGGGTGAACAGCCTCATGGTGGACCCCGTGTCTAGGCGGTAGGACCCCAGAGGTCTCACCCCAGCCTCTCCCCCTGGGATCGGCACGTCTGCAGACTTTCCAGTTCCAACACGTTTTGCAGACAGCAAAACTGCCCGCCAGCCCCACTGAGCATCCGTGTGACCCACACCGGCCCTTCGGTCTCTGCTCTCCCTCAGGCCAAAGTCAGCTTTTTGGCTCTTAACAGACTTTTCCGGGGCCTTAATTTTCACACGTTTTCCCTGCTCCCTGCCTGTGCCACCTGGGCTACATCCCTTGGTGAGGTCAGGCCACGTGTGCGGACATCGTCCCCCAGTCTACTTTGTCTCGACCTTCGAGACCAGCTTCTCACCATGCGTGCGGGGCTTGCCCTTCTGTTTCAGTGGAGAAGCTGGTTGGGGCCCAGGGTCAGCCAGGCTCCCCAGTGTGAGGGTGAGTTACAGGCTGCACCGGCACTGTGGCCGGGCTCTGGACTCGACCTACCGTCCTGTCCAGCACCGTGGGGATGAAGTCGTAGCCGATCCCTTCCACCTCGTAGGTTGTCTGCTCCGTCTGGTTCAGCTCCTCCGGCTCTGCGAGGATGGACCCTTCGGGATCCACCCCAATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGGCCAGCAAAAGCCCCGCCTGGACATGCCTCGATATTCTATTATGGGAGTGGCCAATACCGCCGTTAACAACTGCCTGTTAATGATCTGCCTGTGGGTGGTGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAACCCTCTCCCAACTCCCACAAGCCCCAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTA
|
pathogenic
| 319,465 |
The chromosome 21, position 43063989 genetic variant in gene CBS (cystathionine beta-synthase): benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED']
|
GCTGCTCCAGGGTGCTCGCAGCACCCAGTCCCGGCCATGGGCCCCGTCAATGCAGAGCCACCGCCCCAGGGGCCCTGGTGGACTTGATTAGAAACAATAAGTGCCATGAGAGCTTCAGCCTTGTTCTAGAAACACATTCTGGAAGGCAGCTCGAAGCCCCGCCCCATGGCCTCCTGCCCTCACCTGAGCAGGTGACCACACTGGGCAGGCAGACAACACCTGAGGCTCGTGGCCGCCGCAGTGACACTCCTCAGAACTGCTGTCTTACACATGCAGGTCGGTGGCTGACTGAGGGTGCGCCCCCAGCCATCCCCAGTGCCCCCTAGCCATCTCTGCCTTCCCCATACCCCCGTGCCCGCCACCCACTCACCGCACAGCAGCCCCTCTTGCGCGATCAGCATGCGGGCAAAGGTGAACGCCTCCTCATCGTTGCTCTTGAACCACTTGTCCACCACCTGAGCAGGACCCCACCACAGCCCGTCAGCGTGGGAGCCGCTCCCACGTGACCAAGAGGGTGAACAGCCTCATGGTGGACCCCGTGTCTAGGCGGTAGGACCCCAGAGGTCTCACCCCAGCCTCTCCCCCTGGGATCGGCACGTCTGCAGACTTTCCAGTTCCAACACGTTTTGCAGACAGCAAAACTGCCCGCCAGCCCCACTGAGCATCCGTGTGACCCACACCGGCCCTTCGGTCTCTGCTCTCCCTCAGGCCAAAGTCAGCTTTTTGGCTCTTAACAGACTTTTCCGGGGCCTTAATTTTCACACGTTTTCCCTGCTCCCTGCCTGTGCCACCTGGGCTACATCCCTTGGTGAGGTCAGGCCACGTGTGCGGACATCGTCCCCCAGTCTACTTTGTCTCGACCTTCGAGACCAGCTTCTCACCATGCGTGCGGGGCTTGCCCTTCTGTTTCAGTGGAGAAGCTGGTTGGGGCCCAGGGTCAGCCAGGCTCCCCAGTGTGAGGGTGAGTTACAGGCTGCACCGGCACTGTGGCCGGGCTCTGGACTCGACCTACCGTCCTGTCCAGCACCGTGGGGATGAAGTCGTAGCCGATCCCTTCCACCTCGTAGGTTGTCTGCTCCGTCTGGTTCAGCTCCTCCGGCTCTGCGAGGATGGACCCTTCGGGATCCACCCCAATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGGCCAGCAAAAGCCCCGCCTGGACATGCCTCGATATTCTATTATGGGAGTGGCCAATACCGCCGTTAACAACTGCCTGTTAATGATCTGCCTGTGGGTGGTGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAACCCTCTCCCAACTCCCACAAGCCCCAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCC
|
GCTGCTCCAGGGTGCTCGCAGCACCCAGTCCCGGCCATGGGCCCCGTCAATGCAGAGCCACCGCCCCAGGGGCCCTGGTGGACTTGATTAGAAACAATAAGTGCCATGAGAGCTTCAGCCTTGTTCTAGAAACACATTCTGGAAGGCAGCTCGAAGCCCCGCCCCATGGCCTCCTGCCCTCACCTGAGCAGGTGACCACACTGGGCAGGCAGACAACACCTGAGGCTCGTGGCCGCCGCAGTGACACTCCTCAGAACTGCTGTCTTACACATGCAGGTCGGTGGCTGACTGAGGGTGCGCCCCCAGCCATCCCCAGTGCCCCCTAGCCATCTCTGCCTTCCCCATACCCCCGTGCCCGCCACCCACTCACCGCACAGCAGCCCCTCTTGCGCGATCAGCATGCGGGCAAAGGTGAACGCCTCCTCATCGTTGCTCTTGAACCACTTGTCCACCACCTGAGCAGGACCCCACCACAGCCCGTCAGCGTGGGAGCCGCTCCCACGTGACCAAGAGGGTGAACAGCCTCATGGTGGACCCCGTGTCTAGGCGGTAGGACCCCAGAGGTCTCACCCCAGCCTCTCCCCCTGGGATCGGCACGTCTGCAGACTTTCCAGTTCCAACACGTTTTGCAGACAGCAAAACTGCCCGCCAGCCCCACTGAGCATCCGTGTGACCCACACCGGCCCTTCGGTCTCTGCTCTCCCTCAGGCCAAAGTCAGCTTTTTGGCTCTTAACAGACTTTTCCGGGGCCTTAATTTTCACACGTTTTCCCTGCTCCCTGCCTGTGCCACCTGGGCTACATCCCTTGGTGAGGTCAGGCCACGTGTGCGGACATCGTCCCCCAGTCTACTTTGTCTCGACCTTCGAGACCAGCTTCTCACCATGCGTGCGGGGCTTGCCCTTCTGTTTCAGTGGAGAAGCTGGTTGGGGCCCAGGGTCAGCCAGGCTCCCCAGTGTGAGGGTGAGTTACAGGCTGCACCGGCACTGTGGCCGGGCTCTGGACTCGACCTACCGTCCTGTCCAGCACCGTGGGGATGAAGTCGTAGCCGATCCCTTCCACCTCGTAGGTTGTCTGCTCCGTCTGGTTCAGCTCCTCCGGCTCTGCGAGGATGGACCCTTCGGGATCCACCCCAATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGGCCAGCAAAAGCCCCGCCTGGACATGCCTCGATATTCTATTATGGGAGTGGCCAATACCGCCGTTAACAACTGCCTGTTAATGATCTGCCTGTGGGTGGTGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAACCCTCTCCCAACTCCCACAAGCCCCAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCN
|
pathogenic
| 319,513 |
Variant chromosome 21, position 43065205, gene CBS (cystathionine beta-synthase): benign or pathogenic? Disease(s)?
|
pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED']
|
GGCCAATACCGCCGTTAACAACTGCCTGTTAATGATCTGCCTGTGGGTGGTGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAACCCTCTCCCAACTCCCACAAGCCCCAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGC
|
GGCCAATACCGCCGTTAACAACTGCCTGTTAATGATCTGCCTGTGGGTGGTGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAACCCTCTCCCAACTCCCACAAGCCCCAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCNN
|
pathogenic
| 319,516 |
Evaluate if the mutation on chromosome 21 at position 43065249 in CBS (cystathionine beta-synthase) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED', 'Homocystinuria']
|
GGGTGGTGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAACCCTCTCCCAACTCCCACAAGCCCCAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGT
|
GGGTGGTGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAACCCTCTCCCAACTCCCACAAGCCCCAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTN
|
pathogenic
| 319,522 |
A genetic variant on chromosome 21, position 43065278, affects the gene CBS (cystathionine beta-synthase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Classic_homocystinuria', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED', 'Homocystinuria']
|
CAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAACCCTCTCCCAACTCCCACAAGCCCCAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAAC
|
CAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAACCCTCTCCCAACTCCCACAAGCCCCAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACNNNNNNNN
|
pathogenic
| 319,530 |
A mutation at chromosome position 43065453 on chromosome 21 in gene CBS (cystathionine beta-synthase): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED']
|
GCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAACCCTCTCCCAACTCCCACAAGCCCCAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATC
|
GCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTGCTCTTAACCCCGAGTCCAGGAACCCTCTCCCAACTCCCACAAGCCCCAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 319,538 |
Classify the chromosome 21 variant at position 43065665 affecting gene CBS (cystathionine beta-synthase) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED']
|
CTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCA
|
CTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCAGCTTCCTGGCAATGCCCGTGATGGTGCCGCCCGTGCCCACTGAAGCCACCAGCATGTCCAGCTTCCCTGGTGGACGGATAACATTCTTGGGTCCCTGCCTGGCCAGCCCATCACTCATAGTAATAATCATTGAAAACACACTCAGCCCAAACCACGGTGGGTAACCAAAAAGTTCAAAAGAAAAACTTCTTCTCCAGTTGGAGCAGCCCTCGTTGCTGCCCTTGGTCTGTGAAAGCCTCAGAAACAGGCAGCCTGGGGCACCCCAGCCCAGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCAN
|
pathogenic
| 319,552 |
Is the genetic mutation found on chromosome 21 at position 43066290, within the gene CBS (cystathionine beta-synthase), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['CBS-related_disorder', 'Classic_homocystinuria']
|
ATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTG
|
ATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCCCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGN
|
pathogenic
| 319,574 |
Evaluate the clinical significance of the mutation at chromosome 21, position 43066291 in gene CBS (cystathionine beta-synthase): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED']
|
TGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGT
|
TGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTN
|
pathogenic
| 319,575 |
Located at chromosome 21 position 43066319, the variant affecting gene CBS (cystathionine beta-synthase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED', 'Homocystinuria']
|
GTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGATATG
|
GTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATTCCCAATAGGAAGCCAGGGCGCCAACCTCTTGGCAACTTATCTCTAAAGGGATCTCTTGGGAAAACCTCAGTACCAACCCCCACAGGCCTTGGCACCGAGTCCCTGGAAAAGGGCCCAAGGAGCCGGCCTCATGCTTGTAACAGAGAGTGAGCTCATCGCAGATGTCACCAGCTCTGTTCTGCAGATGAATTTGATGCCGAGTCAGGGCATGATCCCAAATGAAGTCCAAGCTGTGAGCCCAGCACCAGCCTGGGCCCTGAACAGACTCGCTGTCTGCATTATCTGCAGGAGGAGCCCCTGCAGACCTGCAGAGATTGCTGGGTAAACAAATACAGCCATGCCCTGTGTTTGCTATTACAGGTAAACCACAGGCGGAGGCCAAGAGGGCACAACGGAGGGAGGAAATTGTTCTAGAGAAATGCTCTAGAAAAGCATTTCACAGAGGGAACATTTGAGCTGGGTTCTGAAGGGTGAATAGGAGTTCACCAAGGAGAGGGCAAGAGATGTGTACACTCCCAGGCAGCCAGGGATAAATGCAATCAAGATGGACAGAGGGACGCACCATCACACTGCTGCAGGATCTCATCAGCGGTGGTGTCGTAGTGAGCCAGGGGGTTGCTGGCGTTGCGGTACTGCATAGAAAGAGAGCAGAGCCCGTGAGCTGACCCCTGACACCTCAGTCACCCCCACATCCCTGACCGAGACCCTCCTAGGGAATGCCTGTCTCCAGGCCCCAGGTGCCTCACCTGGTCTAGGATGTGAGAATTGGGGATTTCGTTCTTCAGCCGCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTTCTGCCTTCAAGTGCAGGGGGAGAGAGGCTGCCAGAGGCAGAAATAAAAGGTACACGTCAAGGAGGAGGAGGCAGCGGCGCAGGACAGGAGATCTGGTTCCTCCAGGCCCAGCCGGGTACACAGGCACAGGAAGAGCAGACTCCGGGTGCTCGTCTTGTGTGCCAGGCACTGCCAGGTGCCATCGCCCCGAGAGCATCGGCACTGGCCCCGAATGCTGGTCAAAGGAAGCTAGGTTGGGACACAGGCCGGCAGCGGGTGCAAGATGCCAGGGAGCAGGCGGCCAGGCGGGCCAGCACATGCGGCTGCAGCTCAGCCATCCCCCCCGGGTCCCGGCAGGCTCGGCATGGGTAGGGGACAGCCAGCCCTGGCCACCCCCTCTGGGCCTGGCACCCACCGGTGTTCCCGGATGTCGGCTCGATAATCGTGTCCCCGGGCTTCAGCGTCCCGTCGCGCTCAGCATCCTCAATCATCCGCACGCAGGCTGATGCGGTCCTTCACGCTCCCGCCCGCGTTGAAGAACTCACACTTGGCCACTGGGAGGCAGAGATGAATCACAGAGGGGACCCCCTGACCACCCCCCCATTGATTCCTGCTCACCCCCCCATTACCTGATACACCCCAGGGTGGGGGACGGGCTTGGGGGTCTGTGGGTTCTGAAAAATTGCCACCTCTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCATTGTCCTCCTCCCCCTGTGGGGCGTCACCTGCCCGGGGAAGGGCTCCCTGCGCGGTTCCCGCACAAGGCCAAGGCCTTCACTTGCACTTCCTTCCTTACTGCAAGTCCTCTCTCCCTCTCCAGCTCTTAAAAATATTTAGTTTTTAAGAGCGAGAGACTGGGCTGCATGAAATGTGATTTGAGGGACCTGGGACCAGCCTGCAGCACCTCAAAATTTCTGAAAGCAACCACCAGACAGGTGTTGCCCCTAGAACCAGGACGAGGCGCTGTGTGTGGTGGGGAGGACTCTCGGGGTCTGGCCCTCTACAGGCCTGCATTCTCGGACCCCTCTGGGTCCCATACTGTGAAACCCTCAGTTAGATCATTCTCACTAGCGCCTGGGGGCCAGCTCCGAAGCAGAAATCAGAGCTGGTGGCCTCCGGCAAGCCACGTGACCAACCTGACCCTCGGTGTGTCTGTCTGTAAAACGGGCATTCCAAAACCTACTTCAAGGGCAACCACCAAGTTTAGACGTCATCCTGTACGGAGCACAGTGAGCCAGCCACGCGTGCTGCGTACGAGTTAAGGGTCCCTATTGTCTGACAAATGAGCACAGAGCCGGCCCTGCTGCCTTGGGGGTCTCTGTGAAGGGGGCTGCTCTGCTGCAGCTCCGAGATCTCCTTCCCTAGAGGGGGGCAGAGGAGGGCCAGGCTCCCACGAGGCCCCTCCTGTGAATCGGCGATCGGTTCCCAACGCACCGACCCCTGACTTCCTTCCCCCAGCGCCTGCCCCAGCTCTCACAGGTCCCCCGGCTGGGACATTAGAGCATCTCAGGATGAAAAAGTCCCAAGCCATGTTACTGGTTCCCTCTCCTTCCCACTCGAACTCCACCCCCTCCATCTGGCCCTGTCGCGGGGTTCTCCGCGGCACCCTTCCTGCCTCCCTCCGAACTCACTTGGCCTTGGTCATCTGAAATACGAAATTCCGTCCCCGCCTTGTCCCCAAGGCCTCTGCACCCACAGCTTTCTCTGTGACGATGCTGAGGTCTACCAGGGCTCTGCGCTCTTGGTGAAGAGCGACCCTTAGGAATTCCCTCCACGTTCTTGAGCCTGGAAACTGCGTCCTGCAAAGAAATGCCCTTCCCCGGAGGCCTCAGACCACACCTCAGGTGACCCCCTGCGCACCCAGGACGAGGCCAGCCACAGACCCTCCAAATTCCCATTCTCTGTCTCATAAATGATGAGCTGAACTATCTGTCCCCACGAAGCTGGCAAGACAGAGGTAACCGCTCCCTGGACAGCGGGTGGCTCACAGCACGTGCTAGGACCCGTCCACTGCTCCTTAGCAGGCATGACGCTAACCCTCCCCACCTGCTTGCTTCTGCCTTTGACCCTCACCCGGCCCTTCACACCCTCGCTGCTTCCACTCCGGCCTCAGTTCAAAGGTCACCTGTTCGTTCCCTGGTCCATCTGCTGGGGAGTCACTTTGGTCACCCTCTGACACAATGCCCTGTTGTGTGTTTTTCCCAAACTTAAGCTGA
|
pathogenic
| 319,579 |
A genetic alteration at chromosome 21, position 43072028, in gene CBS (cystathionine beta-synthase)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED']
|
CCTGAGAAGTTTGCAGAGGTGATCAGGGCCAGGCCCAGAGCGCTTAGCAAGAAAAAGGATGTGACTTGCAGGGATAGCCCTGGAGCCCCTTATCTCAAGGACTCCCACTTCCACAGCCCAAGAGGCTCCTGGGAGGACACGCCACTGTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTGCTCTCTTGGGTTTGTCTTGGCAGCAAGAGCCCATCCTCCTGGCTGCCCACACATCTGCTTGGCCTCCTGAGCTCCCAGCACTGAGTATGTTTGACACTCAGACCTTCTGGGTTTGTCCACTGTCACTTCTTTCTTTCTATTGCTGCACTGAGAGTACACCCAGCCACCCCCACCCATTCTGAACTGTAAATCAACAACCATAAACGCTGGTAGTGGTGGACACAAAATAGGAATCATAATCCCAGCACTTTGGGAGGCCGAGGCGAGTGGATCAACTGAGGTCAGGAGTTCAAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTATTAAAAGCATAAAAATCCACCGGGCGTGCTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGTAGGAGAATCGCTTCCCGGGAGGCAGAAGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAATCAAACATCTAAGAAGCACATTCTTTGATCTATTTGTTCTCCTCCAAGATTACACTAAGGAAATAAAGATAATCCTAAGGCTTAGTGAGCTTGATTTCAGTTTCATGCTGGGGTAGGGATTTTTGTTGATTTGTCTTTTCCACTGATAGATCTTCTGCGCCTTGAGCAGGGCACGAAATGCACATGGCGCTGAGGAAAGACTTGTTGGCTAAATGAATGTGTCGTATCTTCTATTGCAGTTATGTAAAATGAGGTAACTGCAAACATCTATCTACCCCGTAGAGGGCTTACAAAATGATGGCTTCTTCACCGAACAGTCTGTGCCACCAGAAAAACAGCCCTTATGGAAAAATATGTAATGCCTACGGGAAGTCTTCATGACCTAGAGTTAACGGAAAAGTGCAGGCTGGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAACACTTGTGGGAGGCCAAGGCAGGCGGATCACTTGAACCTAGGCATTCAAGACCAGCCTGGGTGAAACCCCATCTCCTAAAAATACAAAAATCAGCTGGGTGTGATGGTGGGCACCCATAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCCCTTAACTGGGGGAGATTGAGGCTGCAGTAAGCCATGATTGCACCACTGCACTCCAGCTCGTGTCTCAAAAAAATAAAAAATAAATAAATAAGAGAGCGCAGGCAGGATCCTGGTCCCTCACCTCCAGTGAATGTGCACACGCAGCCACAGACCGGGCAAAGCATGTGACCTGGGCACATTTATTTATTTATTCTGGAACTACTTGCTGAGCATCCACTGTCTTGCCAGGCACTGGCCTAGGCGCTGGGCTGCAGCGTAAGGAGGCCTTGGCCTCTCAGAGCCTCATCTACACGGCATGGCCCCACCCCCAGCTCCTCAATCCAGAGTGACTACAGGGGGTTACACCTCATGTCCTCCTGGCTGTGTGGTGTCCAGGTAACAAACTCCTGCCCTCCAGGTTATGGATCAGCCCTCTTGTGATCAAAAGCAGGACTTACGGGGCAGTGTGGTGATGTGGGGACTCGGAGGCAGGCCGGCCCAGCTGCCAGGTGCACCTGCTCGGAGCATCGGGCCGGATCCACAGGGGCTCCTTGGCTTCCTTATCCTCTGGGGACCCCTTCTCCAGGCTCCCCTTCGCCGAGTGTGGCCCTGAGCGGTGGGGGCAGCCTGTGGGCCCCACTTCTGCCTGGGGGGTCTCAGAAGGCATGCTGGGACCTGGCAAAGCAAGGAGAGAGGCGTCGGTTCAGGCTCGGATGCTGTGGGGTTCCAGCGAACCCTGCTGACCCGGCCCCCTCTGGGAGGCGTGCTCTGCTCCCTCAGAGAAGCCCAGGAAGAACTGCACAAAAACACAGGCACCAGCCCTGTGGGCAGCCGCTTGGCCATTTCTCTCCTATAGGCATATACCAAAAAAAATGGAAGCAGACAGTTGCTTGGGCCGGGTGCGGTGGCTCACGCCTCTCATCCCAGCACTTCGGGAGGCTGAGGCAGGAGGACCACTTGAGTCCACGAGGTCAAGACCAGCCTGGGCTCCAGCCCCATCTCTATTTAAAAAATAAAACAACAACAACAAAACAGATGCTTGCACACCCATGCTCACTGCTGCACTATTCACAAGTCAAAACGTGGAGGCAGCCCACGTATCCGCAGACGGATGAACACACACAGTAGGCTCATACACACACTAGAATATTACTCAGCCCTAAGAGAAATGAATTCTGGCACACGCTACAACACGGACGAACCTTCAGGACATTATGCCAAGCGAAATGAGCCAGACACAAAAGGACAAATACTGTGTGATTCCACTTCCACGATGAGGCACCTGGGACTCTCGAACGCCCCTCTATGTCTGGCAAATTCATAGAGATAGAAAGTAGAATAGAAGCGGCCAGCGGCTGAGGTGAGTGGGGAAGGGAGGGTGATTGTTTAATGGGTGCAGAGGTTGTGCTGGGGATGATGAAAACGTTCTGGGTGGAGATAGTCACGGTGGTTGCCTCACACTTAGAAATGGTTACAGTGATCAGTGTTACGTGTATTTTACCCAGGATTAAAAACACACACACGCACCTGAAATAGATGAGACAGAAAAAAAAAAGAAGAAAGCAAAAAGAAAGCCAGGCGAGGTCCCATCTGCTGCCCCTCCTCTGGGGGGACAAGGAACCCACGACCACCTCCCACCTTGCCTTCTTCAGAGGGCCCAGGACTGGGCTCAGCCCCGCTTCACCCTCCTTTGATTCCCCACATTCAACAGGAAGACTAAGTCCACAGCCGTCACTCACCGGACAGATGGTGCTGACAGTTCAGCACCGCTCAAACTCTGTAAGGAGACGTGACAACAGAATCTGTCATGGGATCCTGGAATAGAAAAGGGCAGTGAGGAGAAAACTCTGCAAATCTGACTCAAGCGCGGACTTTGGTTAATGTCAACAATGGTTATGTGATCGTGGAATTGGCTCATTAATTGTAACAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAACTACAAAAATTAGCCAAGCATGGTGGCGCACACCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGGGGAGGTCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCGAGACTCCGTCTCAAAAAATAAAAATAAAAATAAAAATAAAAGAAAATAAATAAAGTAACAAATATACGACATCAGTTTAAGATCTTAATAACAGGGGAAACTGGGGGAACTCTATCTATTTTTTCAATTTTTCTAAATCTAAAACTGCTCTTTTTTAAATTTTCGAGACGGAGTCTCCCTCTTGTTGCCCAGGCTGGAGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGTCTCAGCCTCCTGAGTAGGATTACAGACGCCCGCCACCACATCCGGCTAATTTTTGTATTTTTAGTAGAGACGAAGTTTCACCATGTTGGCCA
|
CCTGAGAAGTTTGCAGAGGTGATCAGGGCCAGGCCCAGAGCGCTTAGCAAGAAAAAGGATGTGACTTGCAGGGATAGCCCTGGAGCCCCTTATCTCAAGGACTCCCACTTCCACAGCCCAAGAGGCTCCTGGGAGGACACGCCACTGTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTGCTCTCTTGGGTTTGTCTTGGCAGCAAGAGCCCATCCTCCTGGCTGCCCACACATCTGCTTGGCCTCCTGAGCTCCCAGCACTGAGTATGTTTGACACTCAGACCTTCTGGGTTTGTCCACTGTCACTTCTTTCTTTCTATTGCTGCACTGAGAGTACACCCAGCCACCCCCACCCATTCTGAACTGTAAATCAACAACCATAAACGCTGGTAGTGGTGGACACAAAATAGGAATCATAATCCCAGCACTTTGGGAGGCCGAGGCGAGTGGATCAACTGAGGTCAGGAGTTCAAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTATTAAAAGCATAAAAATCCACCGGGCGTGCTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGTAGGAGAATCGCTTCCCGGGAGGCAGAAGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAATCAAACATCTAAGAAGCACATTCTTTGATCTATTTGTTCTCCTCCAAGATTACACTAAGGAAATAAAGATAATCCTAAGGCTTAGTGAGCTTGATTTCAGTTTCATGCTGGGGTAGGGATTTTTGTTGATTTGTCTTTTCCACTGATAGATCTTCTGCGCCTTGAGCAGGGCACGAAATGCACATGGCGCTGAGGAAAGACTTGTTGGCTAAATGAATGTGTCGTATCTTCTATTGCAGTTATGTAAAATGAGGTAACTGCAAACATCTATCTACCCCGTAGAGGGCTTACAAAATGATGGCTTCTTCACCGAACAGTCTGTGCCACCAGAAAAACAGCCCTTATGGAAAAATATGTAATGCCTACGGGAAGTCTTCATGACCTAGAGTTAACGGAAAAGTGCAGGCTGGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAACACTTGTGGGAGGCCAAGGCAGGCGGATCACTTGAACCTAGGCATTCAAGACCAGCCTGGGTGAAACCCCATCTCCTAAAAATACAAAAATCAGCTGGGTGTGATGGTGGGCACCCATAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCCCTTAACTGGGGGAGATTGAGGCTGCAGTAAGCCATGATTGCACCACTGCACTCCAGCTCGTGTCTCAAAAAAATAAAAAATAAATAAATAAGAGAGCGCAGGCAGGATCCTGGTCCCTCACCTCCAGTGAATGTGCACACGCAGCCACAGACCGGGCAAAGCATGTGACCTGGGCACATTTATTTATTTATTCTGGAACTACTTGCTGAGCATCCACTGTCTTGCCAGGCACTGGCCTAGGCGCTGGGCTGCAGCGTAAGGAGGCCTTGGCCTCTCAGAGCCTCATCTACACGGCATGGCCCCACCCCCAGCTCCTCAATCCAGAGTGACTACAGGGGGTTACACCTCATGTCCTCCTGGCTGTGTGGTGTCCAGGTAACAAACTCCTGCCCTCCAGGTTATGGATCAGCCCTCTTGTGATCAAAAGCAGGACTTACGGGGCAGTGTGGTGATGTGGGGACTCGGAGGCAGGCCGGCCCAGCTGCTCGGAGCATCGGGCCGGATCCACAGGGGCTCCTTGGCTTCCTTATCCTCTGGGGACCCCTTCTCCAGGCTCCCCTTCGCCGAGTGTGGCCCTGAGCGGTGGGGGCAGCCTGTGGGCCCCACTTCTGCCTGGGGGGTCTCAGAAGGCATGCTGGGACCTGGCAAAGCAAGGAGAGAGGCGTCGGTTCAGGCTCGGATGCTGTGGGGTTCCAGCGAACCCTGCTGACCCGGCCCCCTCTGGGAGGCGTGCTCTGCTCCCTCAGAGAAGCCCAGGAAGAACTGCACAAAAACACAGGCACCAGCCCTGTGGGCAGCCGCTTGGCCATTTCTCTCCTATAGGCATATACCAAAAAAAATGGAAGCAGACAGTTGCTTGGGCCGGGTGCGGTGGCTCACGCCTCTCATCCCAGCACTTCGGGAGGCTGAGGCAGGAGGACCACTTGAGTCCACGAGGTCAAGACCAGCCTGGGCTCCAGCCCCATCTCTATTTAAAAAATAAAACAACAACAACAAAACAGATGCTTGCACACCCATGCTCACTGCTGCACTATTCACAAGTCAAAACGTGGAGGCAGCCCACGTATCCGCAGACGGATGAACACACACAGTAGGCTCATACACACACTAGAATATTACTCAGCCCTAAGAGAAATGAATTCTGGCACACGCTACAACACGGACGAACCTTCAGGACATTATGCCAAGCGAAATGAGCCAGACACAAAAGGACAAATACTGTGTGATTCCACTTCCACGATGAGGCACCTGGGACTCTCGAACGCCCCTCTATGTCTGGCAAATTCATAGAGATAGAAAGTAGAATAGAAGCGGCCAGCGGCTGAGGTGAGTGGGGAAGGGAGGGTGATTGTTTAATGGGTGCAGAGGTTGTGCTGGGGATGATGAAAACGTTCTGGGTGGAGATAGTCACGGTGGTTGCCTCACACTTAGAAATGGTTACAGTGATCAGTGTTACGTGTATTTTACCCAGGATTAAAAACACACACACGCACCTGAAATAGATGAGACAGAAAAAAAAAAGAAGAAAGCAAAAAGAAAGCCAGGCGAGGTCCCATCTGCTGCCCCTCCTCTGGGGGGACAAGGAACCCACGACCACCTCCCACCTTGCCTTCTTCAGAGGGCCCAGGACTGGGCTCAGCCCCGCTTCACCCTCCTTTGATTCCCCACATTCAACAGGAAGACTAAGTCCACAGCCGTCACTCACCGGACAGATGGTGCTGACAGTTCAGCACCGCTCAAACTCTGTAAGGAGACGTGACAACAGAATCTGTCATGGGATCCTGGAATAGAAAAGGGCAGTGAGGAGAAAACTCTGCAAATCTGACTCAAGCGCGGACTTTGGTTAATGTCAACAATGGTTATGTGATCGTGGAATTGGCTCATTAATTGTAACAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAACTACAAAAATTAGCCAAGCATGGTGGCGCACACCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGGGGAGGTCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCGAGACTCCGTCTCAAAAAATAAAAATAAAAATAAAAATAAAAGAAAATAAATAAAGTAACAAATATACGACATCAGTTTAAGATCTTAATAACAGGGGAAACTGGGGGAACTCTATCTATTTTTTCAATTTTTCTAAATCTAAAACTGCTCTTTTTTAAATTTTCGAGACGGAGTCTCCCTCTTGTTGCCCAGGCTGGAGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGTCTCAGCCTCCTGAGTAGGATTACAGACGCCCGCCACCACATCCGGCTAATTTTTGTATTTTTAGTAGAGACGAAGTTTCACCATGTTGGCCANNNNNNNNNNNNN
|
pathogenic
| 319,616 |
Regarding the variant found on chromosome 21 at position 43072095 in gene CBS (cystathionine beta-synthase): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED']
|
GCAGGGATAGCCCTGGAGCCCCTTATCTCAAGGACTCCCACTTCCACAGCCCAAGAGGCTCCTGGGAGGACACGCCACTGTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTGCTCTCTTGGGTTTGTCTTGGCAGCAAGAGCCCATCCTCCTGGCTGCCCACACATCTGCTTGGCCTCCTGAGCTCCCAGCACTGAGTATGTTTGACACTCAGACCTTCTGGGTTTGTCCACTGTCACTTCTTTCTTTCTATTGCTGCACTGAGAGTACACCCAGCCACCCCCACCCATTCTGAACTGTAAATCAACAACCATAAACGCTGGTAGTGGTGGACACAAAATAGGAATCATAATCCCAGCACTTTGGGAGGCCGAGGCGAGTGGATCAACTGAGGTCAGGAGTTCAAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTATTAAAAGCATAAAAATCCACCGGGCGTGCTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGTAGGAGAATCGCTTCCCGGGAGGCAGAAGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAATCAAACATCTAAGAAGCACATTCTTTGATCTATTTGTTCTCCTCCAAGATTACACTAAGGAAATAAAGATAATCCTAAGGCTTAGTGAGCTTGATTTCAGTTTCATGCTGGGGTAGGGATTTTTGTTGATTTGTCTTTTCCACTGATAGATCTTCTGCGCCTTGAGCAGGGCACGAAATGCACATGGCGCTGAGGAAAGACTTGTTGGCTAAATGAATGTGTCGTATCTTCTATTGCAGTTATGTAAAATGAGGTAACTGCAAACATCTATCTACCCCGTAGAGGGCTTACAAAATGATGGCTTCTTCACCGAACAGTCTGTGCCACCAGAAAAACAGCCCTTATGGAAAAATATGTAATGCCTACGGGAAGTCTTCATGACCTAGAGTTAACGGAAAAGTGCAGGCTGGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAACACTTGTGGGAGGCCAAGGCAGGCGGATCACTTGAACCTAGGCATTCAAGACCAGCCTGGGTGAAACCCCATCTCCTAAAAATACAAAAATCAGCTGGGTGTGATGGTGGGCACCCATAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCCCTTAACTGGGGGAGATTGAGGCTGCAGTAAGCCATGATTGCACCACTGCACTCCAGCTCGTGTCTCAAAAAAATAAAAAATAAATAAATAAGAGAGCGCAGGCAGGATCCTGGTCCCTCACCTCCAGTGAATGTGCACACGCAGCCACAGACCGGGCAAAGCATGTGACCTGGGCACATTTATTTATTTATTCTGGAACTACTTGCTGAGCATCCACTGTCTTGCCAGGCACTGGCCTAGGCGCTGGGCTGCAGCGTAAGGAGGCCTTGGCCTCTCAGAGCCTCATCTACACGGCATGGCCCCACCCCCAGCTCCTCAATCCAGAGTGACTACAGGGGGTTACACCTCATGTCCTCCTGGCTGTGTGGTGTCCAGGTAACAAACTCCTGCCCTCCAGGTTATGGATCAGCCCTCTTGTGATCAAAAGCAGGACTTACGGGGCAGTGTGGTGATGTGGGGACTCGGAGGCAGGCCGGCCCAGCTGCCAGGTGCACCTGCTCGGAGCATCGGGCCGGATCCACAGGGGCTCCTTGGCTTCCTTATCCTCTGGGGACCCCTTCTCCAGGCTCCCCTTCGCCGAGTGTGGCCCTGAGCGGTGGGGGCAGCCTGTGGGCCCCACTTCTGCCTGGGGGGTCTCAGAAGGCATGCTGGGACCTGGCAAAGCAAGGAGAGAGGCGTCGGTTCAGGCTCGGATGCTGTGGGGTTCCAGCGAACCCTGCTGACCCGGCCCCCTCTGGGAGGCGTGCTCTGCTCCCTCAGAGAAGCCCAGGAAGAACTGCACAAAAACACAGGCACCAGCCCTGTGGGCAGCCGCTTGGCCATTTCTCTCCTATAGGCATATACCAAAAAAAATGGAAGCAGACAGTTGCTTGGGCCGGGTGCGGTGGCTCACGCCTCTCATCCCAGCACTTCGGGAGGCTGAGGCAGGAGGACCACTTGAGTCCACGAGGTCAAGACCAGCCTGGGCTCCAGCCCCATCTCTATTTAAAAAATAAAACAACAACAACAAAACAGATGCTTGCACACCCATGCTCACTGCTGCACTATTCACAAGTCAAAACGTGGAGGCAGCCCACGTATCCGCAGACGGATGAACACACACAGTAGGCTCATACACACACTAGAATATTACTCAGCCCTAAGAGAAATGAATTCTGGCACACGCTACAACACGGACGAACCTTCAGGACATTATGCCAAGCGAAATGAGCCAGACACAAAAGGACAAATACTGTGTGATTCCACTTCCACGATGAGGCACCTGGGACTCTCGAACGCCCCTCTATGTCTGGCAAATTCATAGAGATAGAAAGTAGAATAGAAGCGGCCAGCGGCTGAGGTGAGTGGGGAAGGGAGGGTGATTGTTTAATGGGTGCAGAGGTTGTGCTGGGGATGATGAAAACGTTCTGGGTGGAGATAGTCACGGTGGTTGCCTCACACTTAGAAATGGTTACAGTGATCAGTGTTACGTGTATTTTACCCAGGATTAAAAACACACACACGCACCTGAAATAGATGAGACAGAAAAAAAAAAGAAGAAAGCAAAAAGAAAGCCAGGCGAGGTCCCATCTGCTGCCCCTCCTCTGGGGGGACAAGGAACCCACGACCACCTCCCACCTTGCCTTCTTCAGAGGGCCCAGGACTGGGCTCAGCCCCGCTTCACCCTCCTTTGATTCCCCACATTCAACAGGAAGACTAAGTCCACAGCCGTCACTCACCGGACAGATGGTGCTGACAGTTCAGCACCGCTCAAACTCTGTAAGGAGACGTGACAACAGAATCTGTCATGGGATCCTGGAATAGAAAAGGGCAGTGAGGAGAAAACTCTGCAAATCTGACTCAAGCGCGGACTTTGGTTAATGTCAACAATGGTTATGTGATCGTGGAATTGGCTCATTAATTGTAACAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAACTACAAAAATTAGCCAAGCATGGTGGCGCACACCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGGGGAGGTCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCGAGACTCCGTCTCAAAAAATAAAAATAAAAATAAAAATAAAAGAAAATAAATAAAGTAACAAATATACGACATCAGTTTAAGATCTTAATAACAGGGGAAACTGGGGGAACTCTATCTATTTTTTCAATTTTTCTAAATCTAAAACTGCTCTTTTTTAAATTTTCGAGACGGAGTCTCCCTCTTGTTGCCCAGGCTGGAGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGTCTCAGCCTCCTGAGTAGGATTACAGACGCCCGCCACCACATCCGGCTAATTTTTGTATTTTTAGTAGAGACGAAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATTCGCCCGCCTAGCCTCTCAAAGTGCTGGGATTATAG
|
GCAGGGATAGCCCTGGAGCCCCTTATCTCAAGGACTCCCACTTCCACAGCCCAAGAGGCTCCTGGGAGGACACGCCACTGTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTGCTCTCTTGGGTTTGTCTTGGCAGCAAGAGCCCATCCTCCTGGCTGCCCACACATCTGCTTGGCCTCCTGAGCTCCCAGCACTGAGTATGTTTGACACTCAGACCTTCTGGGTTTGTCCACTGTCACTTCTTTCTTTCTATTGCTGCACTGAGAGTACACCCAGCCACCCCCACCCATTCTGAACTGTAAATCAACAACCATAAACGCTGGTAGTGGTGGACACAAAATAGGAATCATAATCCCAGCACTTTGGGAGGCCGAGGCGAGTGGATCAACTGAGGTCAGGAGTTCAAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTATTAAAAGCATAAAAATCCACCGGGCGTGCTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGTAGGAGAATCGCTTCCCGGGAGGCAGAAGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAATCAAACATCTAAGAAGCACATTCTTTGATCTATTTGTTCTCCTCCAAGATTACACTAAGGAAATAAAGATAATCCTAAGGCTTAGTGAGCTTGATTTCAGTTTCATGCTGGGGTAGGGATTTTTGTTGATTTGTCTTTTCCACTGATAGATCTTCTGCGCCTTGAGCAGGGCACGAAATGCACATGGCGCTGAGGAAAGACTTGTTGGCTAAATGAATGTGTCGTATCTTCTATTGCAGTTATGTAAAATGAGGTAACTGCAAACATCTATCTACCCCGTAGAGGGCTTACAAAATGATGGCTTCTTCACCGAACAGTCTGTGCCACCAGAAAAACAGCCCTTATGGAAAAATATGTAATGCCTACGGGAAGTCTTCATGACCTAGAGTTAACGGAAAAGTGCAGGCTGGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAACACTTGTGGGAGGCCAAGGCAGGCGGATCACTTGAACCTAGGCATTCAAGACCAGCCTGGGTGAAACCCCATCTCCTAAAAATACAAAAATCAGCTGGGTGTGATGGTGGGCACCCATAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCCCTTAACTGGGGGAGATTGAGGCTGCAGTAAGCCATGATTGCACCACTGCACTCCAGCTCGTGTCTCAAAAAAATAAAAAATAAATAAATAAGAGAGCGCAGGCAGGATCCTGGTCCCTCACCTCCAGTGAATGTGCACACGCAGCCACAGACCGGGCAAAGCATGTGACCTGGGCACATTTATTTATTTATTCTGGAACTACTTGCTGAGCATCCACTGTCTTGCCAGGCACTGGCCTAGGCGCTGGGCTGCAGCGTAAGGAGGCCTTGGCCTCTCAGAGCCTCATCTACACGGCATGGCCCCACCCCCAGCTCCTCAATCCAGAGTGACTACAGGGGGTTACACCTCATGTCCTCCTGGCTGTGTGGTGTCCAGGTAACAAACTCCTGCCCTCCAGGTTATGGATCAGCCCTCTTGTGATCAAAAGCAGGACTTACGGGGCAGTGTGGTGATGTGGGGACTCGGAGGCAGGCCGGCCCAGCTGCCAGGTGCACCTGCTCGGAGCATCGGGCCGGATCCACAGGGGCTCCTTGGCTTCCTTATCCTCTGGGACCCCTTCTCCAGGCTCCCCTTCGCCGAGTGTGGCCCTGAGCGGTGGGGGCAGCCTGTGGGCCCCACTTCTGCCTGGGGGGTCTCAGAAGGCATGCTGGGACCTGGCAAAGCAAGGAGAGAGGCGTCGGTTCAGGCTCGGATGCTGTGGGGTTCCAGCGAACCCTGCTGACCCGGCCCCCTCTGGGAGGCGTGCTCTGCTCCCTCAGAGAAGCCCAGGAAGAACTGCACAAAAACACAGGCACCAGCCCTGTGGGCAGCCGCTTGGCCATTTCTCTCCTATAGGCATATACCAAAAAAAATGGAAGCAGACAGTTGCTTGGGCCGGGTGCGGTGGCTCACGCCTCTCATCCCAGCACTTCGGGAGGCTGAGGCAGGAGGACCACTTGAGTCCACGAGGTCAAGACCAGCCTGGGCTCCAGCCCCATCTCTATTTAAAAAATAAAACAACAACAACAAAACAGATGCTTGCACACCCATGCTCACTGCTGCACTATTCACAAGTCAAAACGTGGAGGCAGCCCACGTATCCGCAGACGGATGAACACACACAGTAGGCTCATACACACACTAGAATATTACTCAGCCCTAAGAGAAATGAATTCTGGCACACGCTACAACACGGACGAACCTTCAGGACATTATGCCAAGCGAAATGAGCCAGACACAAAAGGACAAATACTGTGTGATTCCACTTCCACGATGAGGCACCTGGGACTCTCGAACGCCCCTCTATGTCTGGCAAATTCATAGAGATAGAAAGTAGAATAGAAGCGGCCAGCGGCTGAGGTGAGTGGGGAAGGGAGGGTGATTGTTTAATGGGTGCAGAGGTTGTGCTGGGGATGATGAAAACGTTCTGGGTGGAGATAGTCACGGTGGTTGCCTCACACTTAGAAATGGTTACAGTGATCAGTGTTACGTGTATTTTACCCAGGATTAAAAACACACACACGCACCTGAAATAGATGAGACAGAAAAAAAAAAGAAGAAAGCAAAAAGAAAGCCAGGCGAGGTCCCATCTGCTGCCCCTCCTCTGGGGGGACAAGGAACCCACGACCACCTCCCACCTTGCCTTCTTCAGAGGGCCCAGGACTGGGCTCAGCCCCGCTTCACCCTCCTTTGATTCCCCACATTCAACAGGAAGACTAAGTCCACAGCCGTCACTCACCGGACAGATGGTGCTGACAGTTCAGCACCGCTCAAACTCTGTAAGGAGACGTGACAACAGAATCTGTCATGGGATCCTGGAATAGAAAAGGGCAGTGAGGAGAAAACTCTGCAAATCTGACTCAAGCGCGGACTTTGGTTAATGTCAACAATGGTTATGTGATCGTGGAATTGGCTCATTAATTGTAACAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAACTACAAAAATTAGCCAAGCATGGTGGCGCACACCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGGGGAGGTCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCGAGACTCCGTCTCAAAAAATAAAAATAAAAATAAAAATAAAAGAAAATAAATAAAGTAACAAATATACGACATCAGTTTAAGATCTTAATAACAGGGGAAACTGGGGGAACTCTATCTATTTTTTCAATTTTTCTAAATCTAAAACTGCTCTTTTTTAAATTTTCGAGACGGAGTCTCCCTCTTGTTGCCCAGGCTGGAGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGTCTCAGCCTCCTGAGTAGGATTACAGACGCCCGCCACCACATCCGGCTAATTTTTGTATTTTTAGTAGAGACGAAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATTCGCCCGCCTAGCCTCTCAAAGTGCTGGGATTATAGN
|
pathogenic
| 319,624 |
Considering the variant on chromosome 21, location 43072165, involving gene CBS (cystathionine beta-synthase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED']
|
CACGCCACTGTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTGCTCTCTTGGGTTTGTCTTGGCAGCAAGAGCCCATCCTCCTGGCTGCCCACACATCTGCTTGGCCTCCTGAGCTCCCAGCACTGAGTATGTTTGACACTCAGACCTTCTGGGTTTGTCCACTGTCACTTCTTTCTTTCTATTGCTGCACTGAGAGTACACCCAGCCACCCCCACCCATTCTGAACTGTAAATCAACAACCATAAACGCTGGTAGTGGTGGACACAAAATAGGAATCATAATCCCAGCACTTTGGGAGGCCGAGGCGAGTGGATCAACTGAGGTCAGGAGTTCAAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTATTAAAAGCATAAAAATCCACCGGGCGTGCTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGTAGGAGAATCGCTTCCCGGGAGGCAGAAGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAATCAAACATCTAAGAAGCACATTCTTTGATCTATTTGTTCTCCTCCAAGATTACACTAAGGAAATAAAGATAATCCTAAGGCTTAGTGAGCTTGATTTCAGTTTCATGCTGGGGTAGGGATTTTTGTTGATTTGTCTTTTCCACTGATAGATCTTCTGCGCCTTGAGCAGGGCACGAAATGCACATGGCGCTGAGGAAAGACTTGTTGGCTAAATGAATGTGTCGTATCTTCTATTGCAGTTATGTAAAATGAGGTAACTGCAAACATCTATCTACCCCGTAGAGGGCTTACAAAATGATGGCTTCTTCACCGAACAGTCTGTGCCACCAGAAAAACAGCCCTTATGGAAAAATATGTAATGCCTACGGGAAGTCTTCATGACCTAGAGTTAACGGAAAAGTGCAGGCTGGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAACACTTGTGGGAGGCCAAGGCAGGCGGATCACTTGAACCTAGGCATTCAAGACCAGCCTGGGTGAAACCCCATCTCCTAAAAATACAAAAATCAGCTGGGTGTGATGGTGGGCACCCATAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCCCTTAACTGGGGGAGATTGAGGCTGCAGTAAGCCATGATTGCACCACTGCACTCCAGCTCGTGTCTCAAAAAAATAAAAAATAAATAAATAAGAGAGCGCAGGCAGGATCCTGGTCCCTCACCTCCAGTGAATGTGCACACGCAGCCACAGACCGGGCAAAGCATGTGACCTGGGCACATTTATTTATTTATTCTGGAACTACTTGCTGAGCATCCACTGTCTTGCCAGGCACTGGCCTAGGCGCTGGGCTGCAGCGTAAGGAGGCCTTGGCCTCTCAGAGCCTCATCTACACGGCATGGCCCCACCCCCAGCTCCTCAATCCAGAGTGACTACAGGGGGTTACACCTCATGTCCTCCTGGCTGTGTGGTGTCCAGGTAACAAACTCCTGCCCTCCAGGTTATGGATCAGCCCTCTTGTGATCAAAAGCAGGACTTACGGGGCAGTGTGGTGATGTGGGGACTCGGAGGCAGGCCGGCCCAGCTGCCAGGTGCACCTGCTCGGAGCATCGGGCCGGATCCACAGGGGCTCCTTGGCTTCCTTATCCTCTGGGGACCCCTTCTCCAGGCTCCCCTTCGCCGAGTGTGGCCCTGAGCGGTGGGGGCAGCCTGTGGGCCCCACTTCTGCCTGGGGGGTCTCAGAAGGCATGCTGGGACCTGGCAAAGCAAGGAGAGAGGCGTCGGTTCAGGCTCGGATGCTGTGGGGTTCCAGCGAACCCTGCTGACCCGGCCCCCTCTGGGAGGCGTGCTCTGCTCCCTCAGAGAAGCCCAGGAAGAACTGCACAAAAACACAGGCACCAGCCCTGTGGGCAGCCGCTTGGCCATTTCTCTCCTATAGGCATATACCAAAAAAAATGGAAGCAGACAGTTGCTTGGGCCGGGTGCGGTGGCTCACGCCTCTCATCCCAGCACTTCGGGAGGCTGAGGCAGGAGGACCACTTGAGTCCACGAGGTCAAGACCAGCCTGGGCTCCAGCCCCATCTCTATTTAAAAAATAAAACAACAACAACAAAACAGATGCTTGCACACCCATGCTCACTGCTGCACTATTCACAAGTCAAAACGTGGAGGCAGCCCACGTATCCGCAGACGGATGAACACACACAGTAGGCTCATACACACACTAGAATATTACTCAGCCCTAAGAGAAATGAATTCTGGCACACGCTACAACACGGACGAACCTTCAGGACATTATGCCAAGCGAAATGAGCCAGACACAAAAGGACAAATACTGTGTGATTCCACTTCCACGATGAGGCACCTGGGACTCTCGAACGCCCCTCTATGTCTGGCAAATTCATAGAGATAGAAAGTAGAATAGAAGCGGCCAGCGGCTGAGGTGAGTGGGGAAGGGAGGGTGATTGTTTAATGGGTGCAGAGGTTGTGCTGGGGATGATGAAAACGTTCTGGGTGGAGATAGTCACGGTGGTTGCCTCACACTTAGAAATGGTTACAGTGATCAGTGTTACGTGTATTTTACCCAGGATTAAAAACACACACACGCACCTGAAATAGATGAGACAGAAAAAAAAAAGAAGAAAGCAAAAAGAAAGCCAGGCGAGGTCCCATCTGCTGCCCCTCCTCTGGGGGGACAAGGAACCCACGACCACCTCCCACCTTGCCTTCTTCAGAGGGCCCAGGACTGGGCTCAGCCCCGCTTCACCCTCCTTTGATTCCCCACATTCAACAGGAAGACTAAGTCCACAGCCGTCACTCACCGGACAGATGGTGCTGACAGTTCAGCACCGCTCAAACTCTGTAAGGAGACGTGACAACAGAATCTGTCATGGGATCCTGGAATAGAAAAGGGCAGTGAGGAGAAAACTCTGCAAATCTGACTCAAGCGCGGACTTTGGTTAATGTCAACAATGGTTATGTGATCGTGGAATTGGCTCATTAATTGTAACAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAACTACAAAAATTAGCCAAGCATGGTGGCGCACACCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGGGGAGGTCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCGAGACTCCGTCTCAAAAAATAAAAATAAAAATAAAAATAAAAGAAAATAAATAAAGTAACAAATATACGACATCAGTTTAAGATCTTAATAACAGGGGAAACTGGGGGAACTCTATCTATTTTTTCAATTTTTCTAAATCTAAAACTGCTCTTTTTTAAATTTTCGAGACGGAGTCTCCCTCTTGTTGCCCAGGCTGGAGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGTCTCAGCCTCCTGAGTAGGATTACAGACGCCCGCCACCACATCCGGCTAATTTTTGTATTTTTAGTAGAGACGAAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATTCGCCCGCCTAGCCTCTCAAAGTGCTGGGATTATAGGAGTGAGCCACCCCGCCCGGCCTAAAACTGCTTTTTTTTTAAAAAGCCTATTAAAAAAGAAAAAGTTGCG
|
CACGCCACTGTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTGCTCTCTTGGGTTTGTCTTGGCAGCAAGAGCCCATCCTCCTGGCTGCCCACACATCTGCTTGGCCTCCTGAGCTCCCAGCACTGAGTATGTTTGACACTCAGACCTTCTGGGTTTGTCCACTGTCACTTCTTTCTTTCTATTGCTGCACTGAGAGTACACCCAGCCACCCCCACCCATTCTGAACTGTAAATCAACAACCATAAACGCTGGTAGTGGTGGACACAAAATAGGAATCATAATCCCAGCACTTTGGGAGGCCGAGGCGAGTGGATCAACTGAGGTCAGGAGTTCAAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTATTAAAAGCATAAAAATCCACCGGGCGTGCTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGTAGGAGAATCGCTTCCCGGGAGGCAGAAGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAATCAAACATCTAAGAAGCACATTCTTTGATCTATTTGTTCTCCTCCAAGATTACACTAAGGAAATAAAGATAATCCTAAGGCTTAGTGAGCTTGATTTCAGTTTCATGCTGGGGTAGGGATTTTTGTTGATTTGTCTTTTCCACTGATAGATCTTCTGCGCCTTGAGCAGGGCACGAAATGCACATGGCGCTGAGGAAAGACTTGTTGGCTAAATGAATGTGTCGTATCTTCTATTGCAGTTATGTAAAATGAGGTAACTGCAAACATCTATCTACCCCGTAGAGGGCTTACAAAATGATGGCTTCTTCACCGAACAGTCTGTGCCACCAGAAAAACAGCCCTTATGGAAAAATATGTAATGCCTACGGGAAGTCTTCATGACCTAGAGTTAACGGAAAAGTGCAGGCTGGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAACACTTGTGGGAGGCCAAGGCAGGCGGATCACTTGAACCTAGGCATTCAAGACCAGCCTGGGTGAAACCCCATCTCCTAAAAATACAAAAATCAGCTGGGTGTGATGGTGGGCACCCATAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCCCTTAACTGGGGGAGATTGAGGCTGCAGTAAGCCATGATTGCACCACTGCACTCCAGCTCGTGTCTCAAAAAAATAAAAAATAAATAAATAAGAGAGCGCAGGCAGGATCCTGGTCCCTCACCTCCAGTGAATGTGCACACGCAGCCACAGACCGGGCAAAGCATGTGACCTGGGCACATTTATTTATTTATTCTGGAACTACTTGCTGAGCATCCACTGTCTTGCCAGGCACTGGCCTAGGCGCTGGGCTGCAGCGTAAGGAGGCCTTGGCCTCTCAGAGCCTCATCTACACGGCATGGCCCCACCCCCAGCTCCTCAATCCAGAGTGACTACAGGGGGTTACACCTCATGTCCTCCTGGCTGTGTGGTGTCCAGGTAACAAACTCCTGCCCTCCAGGTTATGGATCAGCCCTCTTGTGATCAAAAGCAGGACTTACGGGGCAGTGTGGTGATGTGGGGACTCGGAGGCAGGCCGGCCCAGCTGCCAGGTGCACCTGCTCGGAGCATCGGGCCGGATCCACAGGGGCTCCTTGGCTTCCTTATCCTCTGGGGACCCCTTCTCCAGGCTCCCCTTCGCCGAGTGTGGCCCTGAGCGGTGGGGGCAGCCTGTGGGCCCCATTCTGCCTGGGGGGTCTCAGAAGGCATGCTGGGACCTGGCAAAGCAAGGAGAGAGGCGTCGGTTCAGGCTCGGATGCTGTGGGGTTCCAGCGAACCCTGCTGACCCGGCCCCCTCTGGGAGGCGTGCTCTGCTCCCTCAGAGAAGCCCAGGAAGAACTGCACAAAAACACAGGCACCAGCCCTGTGGGCAGCCGCTTGGCCATTTCTCTCCTATAGGCATATACCAAAAAAAATGGAAGCAGACAGTTGCTTGGGCCGGGTGCGGTGGCTCACGCCTCTCATCCCAGCACTTCGGGAGGCTGAGGCAGGAGGACCACTTGAGTCCACGAGGTCAAGACCAGCCTGGGCTCCAGCCCCATCTCTATTTAAAAAATAAAACAACAACAACAAAACAGATGCTTGCACACCCATGCTCACTGCTGCACTATTCACAAGTCAAAACGTGGAGGCAGCCCACGTATCCGCAGACGGATGAACACACACAGTAGGCTCATACACACACTAGAATATTACTCAGCCCTAAGAGAAATGAATTCTGGCACACGCTACAACACGGACGAACCTTCAGGACATTATGCCAAGCGAAATGAGCCAGACACAAAAGGACAAATACTGTGTGATTCCACTTCCACGATGAGGCACCTGGGACTCTCGAACGCCCCTCTATGTCTGGCAAATTCATAGAGATAGAAAGTAGAATAGAAGCGGCCAGCGGCTGAGGTGAGTGGGGAAGGGAGGGTGATTGTTTAATGGGTGCAGAGGTTGTGCTGGGGATGATGAAAACGTTCTGGGTGGAGATAGTCACGGTGGTTGCCTCACACTTAGAAATGGTTACAGTGATCAGTGTTACGTGTATTTTACCCAGGATTAAAAACACACACACGCACCTGAAATAGATGAGACAGAAAAAAAAAAGAAGAAAGCAAAAAGAAAGCCAGGCGAGGTCCCATCTGCTGCCCCTCCTCTGGGGGGACAAGGAACCCACGACCACCTCCCACCTTGCCTTCTTCAGAGGGCCCAGGACTGGGCTCAGCCCCGCTTCACCCTCCTTTGATTCCCCACATTCAACAGGAAGACTAAGTCCACAGCCGTCACTCACCGGACAGATGGTGCTGACAGTTCAGCACCGCTCAAACTCTGTAAGGAGACGTGACAACAGAATCTGTCATGGGATCCTGGAATAGAAAAGGGCAGTGAGGAGAAAACTCTGCAAATCTGACTCAAGCGCGGACTTTGGTTAATGTCAACAATGGTTATGTGATCGTGGAATTGGCTCATTAATTGTAACAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAACTACAAAAATTAGCCAAGCATGGTGGCGCACACCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGGGGAGGTCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCGAGACTCCGTCTCAAAAAATAAAAATAAAAATAAAAATAAAAGAAAATAAATAAAGTAACAAATATACGACATCAGTTTAAGATCTTAATAACAGGGGAAACTGGGGGAACTCTATCTATTTTTTCAATTTTTCTAAATCTAAAACTGCTCTTTTTTAAATTTTCGAGACGGAGTCTCCCTCTTGTTGCCCAGGCTGGAGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGTCTCAGCCTCCTGAGTAGGATTACAGACGCCCGCCACCACATCCGGCTAATTTTTGTATTTTTAGTAGAGACGAAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATTCGCCCGCCTAGCCTCTCAAAGTGCTGGGATTATAGGAGTGAGCCACCCCGCCCGGCCTAAAACTGCTTTTTTTTTAAAAAGCCTATTAAAAAAGAAAAAGTTGCGN
|
pathogenic
| 319,631 |
Evaluate this variant at chromosome 21, position 43072174, gene CBS (cystathionine beta-synthase): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['CBS-related_disorder', 'Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED', 'Homocystinuria']
|
GTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTGCTCTCTTGGGTTTGTCTTGGCAGCAAGAGCCCATCCTCCTGGCTGCCCACACATCTGCTTGGCCTCCTGAGCTCCCAGCACTGAGTATGTTTGACACTCAGACCTTCTGGGTTTGTCCACTGTCACTTCTTTCTTTCTATTGCTGCACTGAGAGTACACCCAGCCACCCCCACCCATTCTGAACTGTAAATCAACAACCATAAACGCTGGTAGTGGTGGACACAAAATAGGAATCATAATCCCAGCACTTTGGGAGGCCGAGGCGAGTGGATCAACTGAGGTCAGGAGTTCAAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTATTAAAAGCATAAAAATCCACCGGGCGTGCTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGTAGGAGAATCGCTTCCCGGGAGGCAGAAGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAATCAAACATCTAAGAAGCACATTCTTTGATCTATTTGTTCTCCTCCAAGATTACACTAAGGAAATAAAGATAATCCTAAGGCTTAGTGAGCTTGATTTCAGTTTCATGCTGGGGTAGGGATTTTTGTTGATTTGTCTTTTCCACTGATAGATCTTCTGCGCCTTGAGCAGGGCACGAAATGCACATGGCGCTGAGGAAAGACTTGTTGGCTAAATGAATGTGTCGTATCTTCTATTGCAGTTATGTAAAATGAGGTAACTGCAAACATCTATCTACCCCGTAGAGGGCTTACAAAATGATGGCTTCTTCACCGAACAGTCTGTGCCACCAGAAAAACAGCCCTTATGGAAAAATATGTAATGCCTACGGGAAGTCTTCATGACCTAGAGTTAACGGAAAAGTGCAGGCTGGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAACACTTGTGGGAGGCCAAGGCAGGCGGATCACTTGAACCTAGGCATTCAAGACCAGCCTGGGTGAAACCCCATCTCCTAAAAATACAAAAATCAGCTGGGTGTGATGGTGGGCACCCATAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCCCTTAACTGGGGGAGATTGAGGCTGCAGTAAGCCATGATTGCACCACTGCACTCCAGCTCGTGTCTCAAAAAAATAAAAAATAAATAAATAAGAGAGCGCAGGCAGGATCCTGGTCCCTCACCTCCAGTGAATGTGCACACGCAGCCACAGACCGGGCAAAGCATGTGACCTGGGCACATTTATTTATTTATTCTGGAACTACTTGCTGAGCATCCACTGTCTTGCCAGGCACTGGCCTAGGCGCTGGGCTGCAGCGTAAGGAGGCCTTGGCCTCTCAGAGCCTCATCTACACGGCATGGCCCCACCCCCAGCTCCTCAATCCAGAGTGACTACAGGGGGTTACACCTCATGTCCTCCTGGCTGTGTGGTGTCCAGGTAACAAACTCCTGCCCTCCAGGTTATGGATCAGCCCTCTTGTGATCAAAAGCAGGACTTACGGGGCAGTGTGGTGATGTGGGGACTCGGAGGCAGGCCGGCCCAGCTGCCAGGTGCACCTGCTCGGAGCATCGGGCCGGATCCACAGGGGCTCCTTGGCTTCCTTATCCTCTGGGGACCCCTTCTCCAGGCTCCCCTTCGCCGAGTGTGGCCCTGAGCGGTGGGGGCAGCCTGTGGGCCCCACTTCTGCCTGGGGGGTCTCAGAAGGCATGCTGGGACCTGGCAAAGCAAGGAGAGAGGCGTCGGTTCAGGCTCGGATGCTGTGGGGTTCCAGCGAACCCTGCTGACCCGGCCCCCTCTGGGAGGCGTGCTCTGCTCCCTCAGAGAAGCCCAGGAAGAACTGCACAAAAACACAGGCACCAGCCCTGTGGGCAGCCGCTTGGCCATTTCTCTCCTATAGGCATATACCAAAAAAAATGGAAGCAGACAGTTGCTTGGGCCGGGTGCGGTGGCTCACGCCTCTCATCCCAGCACTTCGGGAGGCTGAGGCAGGAGGACCACTTGAGTCCACGAGGTCAAGACCAGCCTGGGCTCCAGCCCCATCTCTATTTAAAAAATAAAACAACAACAACAAAACAGATGCTTGCACACCCATGCTCACTGCTGCACTATTCACAAGTCAAAACGTGGAGGCAGCCCACGTATCCGCAGACGGATGAACACACACAGTAGGCTCATACACACACTAGAATATTACTCAGCCCTAAGAGAAATGAATTCTGGCACACGCTACAACACGGACGAACCTTCAGGACATTATGCCAAGCGAAATGAGCCAGACACAAAAGGACAAATACTGTGTGATTCCACTTCCACGATGAGGCACCTGGGACTCTCGAACGCCCCTCTATGTCTGGCAAATTCATAGAGATAGAAAGTAGAATAGAAGCGGCCAGCGGCTGAGGTGAGTGGGGAAGGGAGGGTGATTGTTTAATGGGTGCAGAGGTTGTGCTGGGGATGATGAAAACGTTCTGGGTGGAGATAGTCACGGTGGTTGCCTCACACTTAGAAATGGTTACAGTGATCAGTGTTACGTGTATTTTACCCAGGATTAAAAACACACACACGCACCTGAAATAGATGAGACAGAAAAAAAAAAGAAGAAAGCAAAAAGAAAGCCAGGCGAGGTCCCATCTGCTGCCCCTCCTCTGGGGGGACAAGGAACCCACGACCACCTCCCACCTTGCCTTCTTCAGAGGGCCCAGGACTGGGCTCAGCCCCGCTTCACCCTCCTTTGATTCCCCACATTCAACAGGAAGACTAAGTCCACAGCCGTCACTCACCGGACAGATGGTGCTGACAGTTCAGCACCGCTCAAACTCTGTAAGGAGACGTGACAACAGAATCTGTCATGGGATCCTGGAATAGAAAAGGGCAGTGAGGAGAAAACTCTGCAAATCTGACTCAAGCGCGGACTTTGGTTAATGTCAACAATGGTTATGTGATCGTGGAATTGGCTCATTAATTGTAACAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAACTACAAAAATTAGCCAAGCATGGTGGCGCACACCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGGGGAGGTCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCGAGACTCCGTCTCAAAAAATAAAAATAAAAATAAAAATAAAAGAAAATAAATAAAGTAACAAATATACGACATCAGTTTAAGATCTTAATAACAGGGGAAACTGGGGGAACTCTATCTATTTTTTCAATTTTTCTAAATCTAAAACTGCTCTTTTTTAAATTTTCGAGACGGAGTCTCCCTCTTGTTGCCCAGGCTGGAGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGTCTCAGCCTCCTGAGTAGGATTACAGACGCCCGCCACCACATCCGGCTAATTTTTGTATTTTTAGTAGAGACGAAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATTCGCCCGCCTAGCCTCTCAAAGTGCTGGGATTATAGGAGTGAGCCACCCCGCCCGGCCTAAAACTGCTTTTTTTTTAAAAAGCCTATTAAAAAAGAAAAAGTTGCGGAAGCCGGC
|
GTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTGCTCTCTTGGGTTTGTCTTGGCAGCAAGAGCCCATCCTCCTGGCTGCCCACACATCTGCTTGGCCTCCTGAGCTCCCAGCACTGAGTATGTTTGACACTCAGACCTTCTGGGTTTGTCCACTGTCACTTCTTTCTTTCTATTGCTGCACTGAGAGTACACCCAGCCACCCCCACCCATTCTGAACTGTAAATCAACAACCATAAACGCTGGTAGTGGTGGACACAAAATAGGAATCATAATCCCAGCACTTTGGGAGGCCGAGGCGAGTGGATCAACTGAGGTCAGGAGTTCAAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTATTAAAAGCATAAAAATCCACCGGGCGTGCTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGTAGGAGAATCGCTTCCCGGGAGGCAGAAGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAATCAAACATCTAAGAAGCACATTCTTTGATCTATTTGTTCTCCTCCAAGATTACACTAAGGAAATAAAGATAATCCTAAGGCTTAGTGAGCTTGATTTCAGTTTCATGCTGGGGTAGGGATTTTTGTTGATTTGTCTTTTCCACTGATAGATCTTCTGCGCCTTGAGCAGGGCACGAAATGCACATGGCGCTGAGGAAAGACTTGTTGGCTAAATGAATGTGTCGTATCTTCTATTGCAGTTATGTAAAATGAGGTAACTGCAAACATCTATCTACCCCGTAGAGGGCTTACAAAATGATGGCTTCTTCACCGAACAGTCTGTGCCACCAGAAAAACAGCCCTTATGGAAAAATATGTAATGCCTACGGGAAGTCTTCATGACCTAGAGTTAACGGAAAAGTGCAGGCTGGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAACACTTGTGGGAGGCCAAGGCAGGCGGATCACTTGAACCTAGGCATTCAAGACCAGCCTGGGTGAAACCCCATCTCCTAAAAATACAAAAATCAGCTGGGTGTGATGGTGGGCACCCATAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCCCTTAACTGGGGGAGATTGAGGCTGCAGTAAGCCATGATTGCACCACTGCACTCCAGCTCGTGTCTCAAAAAAATAAAAAATAAATAAATAAGAGAGCGCAGGCAGGATCCTGGTCCCTCACCTCCAGTGAATGTGCACACGCAGCCACAGACCGGGCAAAGCATGTGACCTGGGCACATTTATTTATTTATTCTGGAACTACTTGCTGAGCATCCACTGTCTTGCCAGGCACTGGCCTAGGCGCTGGGCTGCAGCGTAAGGAGGCCTTGGCCTCTCAGAGCCTCATCTACACGGCATGGCCCCACCCCCAGCTCCTCAATCCAGAGTGACTACAGGGGGTTACACCTCATGTCCTCCTGGCTGTGTGGTGTCCAGGTAACAAACTCCTGCCCTCCAGGTTATGGATCAGCCCTCTTGTGATCAAAAGCAGGACTTACGGGGCAGTGTGGTGATGTGGGGACTCGGAGGCAGGCCGGCCCAGCTGCCAGGTGCACCTGCTCGGAGCATCGGGCCGGATCCACAGGGGCTCCTTGGCTTCCTTATCCTCTGGGGACCCCTTCTCCAGGCTCCCCTTCGCCGAGTGTGGCCCTGAGCGGTGGGGGCAGCCTGTGGGCCCCACTTCTGCCTGGGGGGGTCTCAGAAGGCATGCTGGGACCTGGCAAAGCAAGGAGAGAGGCGTCGGTTCAGGCTCGGATGCTGTGGGGTTCCAGCGAACCCTGCTGACCCGGCCCCCTCTGGGAGGCGTGCTCTGCTCCCTCAGAGAAGCCCAGGAAGAACTGCACAAAAACACAGGCACCAGCCCTGTGGGCAGCCGCTTGGCCATTTCTCTCCTATAGGCATATACCAAAAAAAATGGAAGCAGACAGTTGCTTGGGCCGGGTGCGGTGGCTCACGCCTCTCATCCCAGCACTTCGGGAGGCTGAGGCAGGAGGACCACTTGAGTCCACGAGGTCAAGACCAGCCTGGGCTCCAGCCCCATCTCTATTTAAAAAATAAAACAACAACAACAAAACAGATGCTTGCACACCCATGCTCACTGCTGCACTATTCACAAGTCAAAACGTGGAGGCAGCCCACGTATCCGCAGACGGATGAACACACACAGTAGGCTCATACACACACTAGAATATTACTCAGCCCTAAGAGAAATGAATTCTGGCACACGCTACAACACGGACGAACCTTCAGGACATTATGCCAAGCGAAATGAGCCAGACACAAAAGGACAAATACTGTGTGATTCCACTTCCACGATGAGGCACCTGGGACTCTCGAACGCCCCTCTATGTCTGGCAAATTCATAGAGATAGAAAGTAGAATAGAAGCGGCCAGCGGCTGAGGTGAGTGGGGAAGGGAGGGTGATTGTTTAATGGGTGCAGAGGTTGTGCTGGGGATGATGAAAACGTTCTGGGTGGAGATAGTCACGGTGGTTGCCTCACACTTAGAAATGGTTACAGTGATCAGTGTTACGTGTATTTTACCCAGGATTAAAAACACACACACGCACCTGAAATAGATGAGACAGAAAAAAAAAAGAAGAAAGCAAAAAGAAAGCCAGGCGAGGTCCCATCTGCTGCCCCTCCTCTGGGGGGACAAGGAACCCACGACCACCTCCCACCTTGCCTTCTTCAGAGGGCCCAGGACTGGGCTCAGCCCCGCTTCACCCTCCTTTGATTCCCCACATTCAACAGGAAGACTAAGTCCACAGCCGTCACTCACCGGACAGATGGTGCTGACAGTTCAGCACCGCTCAAACTCTGTAAGGAGACGTGACAACAGAATCTGTCATGGGATCCTGGAATAGAAAAGGGCAGTGAGGAGAAAACTCTGCAAATCTGACTCAAGCGCGGACTTTGGTTAATGTCAACAATGGTTATGTGATCGTGGAATTGGCTCATTAATTGTAACAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAACTACAAAAATTAGCCAAGCATGGTGGCGCACACCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGGGGAGGTCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCGAGACTCCGTCTCAAAAAATAAAAATAAAAATAAAAATAAAAGAAAATAAATAAAGTAACAAATATACGACATCAGTTTAAGATCTTAATAACAGGGGAAACTGGGGGAACTCTATCTATTTTTTCAATTTTTCTAAATCTAAAACTGCTCTTTTTTAAATTTTCGAGACGGAGTCTCCCTCTTGTTGCCCAGGCTGGAGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGTCTCAGCCTCCTGAGTAGGATTACAGACGCCCGCCACCACATCCGGCTAATTTTTGTATTTTTAGTAGAGACGAAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATTCGCCCGCCTAGCCTCTCAAAGTGCTGGGATTATAGGAGTGAGCCACCCCGCCCGGCCTAAAACTGCTTTTTTTTTAAAAAGCCTATTAAAAAAGAAAAAGTTGCGGAAGCCGG
|
pathogenic
| 319,632 |
Is the variant located on chromosome 21 at position 43072174, gene CBS (cystathionine beta-synthase), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Classic_homocystinuria', 'HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED']
|
GTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTGCTCTCTTGGGTTTGTCTTGGCAGCAAGAGCCCATCCTCCTGGCTGCCCACACATCTGCTTGGCCTCCTGAGCTCCCAGCACTGAGTATGTTTGACACTCAGACCTTCTGGGTTTGTCCACTGTCACTTCTTTCTTTCTATTGCTGCACTGAGAGTACACCCAGCCACCCCCACCCATTCTGAACTGTAAATCAACAACCATAAACGCTGGTAGTGGTGGACACAAAATAGGAATCATAATCCCAGCACTTTGGGAGGCCGAGGCGAGTGGATCAACTGAGGTCAGGAGTTCAAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTATTAAAAGCATAAAAATCCACCGGGCGTGCTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGTAGGAGAATCGCTTCCCGGGAGGCAGAAGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAATCAAACATCTAAGAAGCACATTCTTTGATCTATTTGTTCTCCTCCAAGATTACACTAAGGAAATAAAGATAATCCTAAGGCTTAGTGAGCTTGATTTCAGTTTCATGCTGGGGTAGGGATTTTTGTTGATTTGTCTTTTCCACTGATAGATCTTCTGCGCCTTGAGCAGGGCACGAAATGCACATGGCGCTGAGGAAAGACTTGTTGGCTAAATGAATGTGTCGTATCTTCTATTGCAGTTATGTAAAATGAGGTAACTGCAAACATCTATCTACCCCGTAGAGGGCTTACAAAATGATGGCTTCTTCACCGAACAGTCTGTGCCACCAGAAAAACAGCCCTTATGGAAAAATATGTAATGCCTACGGGAAGTCTTCATGACCTAGAGTTAACGGAAAAGTGCAGGCTGGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAACACTTGTGGGAGGCCAAGGCAGGCGGATCACTTGAACCTAGGCATTCAAGACCAGCCTGGGTGAAACCCCATCTCCTAAAAATACAAAAATCAGCTGGGTGTGATGGTGGGCACCCATAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCCCTTAACTGGGGGAGATTGAGGCTGCAGTAAGCCATGATTGCACCACTGCACTCCAGCTCGTGTCTCAAAAAAATAAAAAATAAATAAATAAGAGAGCGCAGGCAGGATCCTGGTCCCTCACCTCCAGTGAATGTGCACACGCAGCCACAGACCGGGCAAAGCATGTGACCTGGGCACATTTATTTATTTATTCTGGAACTACTTGCTGAGCATCCACTGTCTTGCCAGGCACTGGCCTAGGCGCTGGGCTGCAGCGTAAGGAGGCCTTGGCCTCTCAGAGCCTCATCTACACGGCATGGCCCCACCCCCAGCTCCTCAATCCAGAGTGACTACAGGGGGTTACACCTCATGTCCTCCTGGCTGTGTGGTGTCCAGGTAACAAACTCCTGCCCTCCAGGTTATGGATCAGCCCTCTTGTGATCAAAAGCAGGACTTACGGGGCAGTGTGGTGATGTGGGGACTCGGAGGCAGGCCGGCCCAGCTGCCAGGTGCACCTGCTCGGAGCATCGGGCCGGATCCACAGGGGCTCCTTGGCTTCCTTATCCTCTGGGGACCCCTTCTCCAGGCTCCCCTTCGCCGAGTGTGGCCCTGAGCGGTGGGGGCAGCCTGTGGGCCCCACTTCTGCCTGGGGGGTCTCAGAAGGCATGCTGGGACCTGGCAAAGCAAGGAGAGAGGCGTCGGTTCAGGCTCGGATGCTGTGGGGTTCCAGCGAACCCTGCTGACCCGGCCCCCTCTGGGAGGCGTGCTCTGCTCCCTCAGAGAAGCCCAGGAAGAACTGCACAAAAACACAGGCACCAGCCCTGTGGGCAGCCGCTTGGCCATTTCTCTCCTATAGGCATATACCAAAAAAAATGGAAGCAGACAGTTGCTTGGGCCGGGTGCGGTGGCTCACGCCTCTCATCCCAGCACTTCGGGAGGCTGAGGCAGGAGGACCACTTGAGTCCACGAGGTCAAGACCAGCCTGGGCTCCAGCCCCATCTCTATTTAAAAAATAAAACAACAACAACAAAACAGATGCTTGCACACCCATGCTCACTGCTGCACTATTCACAAGTCAAAACGTGGAGGCAGCCCACGTATCCGCAGACGGATGAACACACACAGTAGGCTCATACACACACTAGAATATTACTCAGCCCTAAGAGAAATGAATTCTGGCACACGCTACAACACGGACGAACCTTCAGGACATTATGCCAAGCGAAATGAGCCAGACACAAAAGGACAAATACTGTGTGATTCCACTTCCACGATGAGGCACCTGGGACTCTCGAACGCCCCTCTATGTCTGGCAAATTCATAGAGATAGAAAGTAGAATAGAAGCGGCCAGCGGCTGAGGTGAGTGGGGAAGGGAGGGTGATTGTTTAATGGGTGCAGAGGTTGTGCTGGGGATGATGAAAACGTTCTGGGTGGAGATAGTCACGGTGGTTGCCTCACACTTAGAAATGGTTACAGTGATCAGTGTTACGTGTATTTTACCCAGGATTAAAAACACACACACGCACCTGAAATAGATGAGACAGAAAAAAAAAAGAAGAAAGCAAAAAGAAAGCCAGGCGAGGTCCCATCTGCTGCCCCTCCTCTGGGGGGACAAGGAACCCACGACCACCTCCCACCTTGCCTTCTTCAGAGGGCCCAGGACTGGGCTCAGCCCCGCTTCACCCTCCTTTGATTCCCCACATTCAACAGGAAGACTAAGTCCACAGCCGTCACTCACCGGACAGATGGTGCTGACAGTTCAGCACCGCTCAAACTCTGTAAGGAGACGTGACAACAGAATCTGTCATGGGATCCTGGAATAGAAAAGGGCAGTGAGGAGAAAACTCTGCAAATCTGACTCAAGCGCGGACTTTGGTTAATGTCAACAATGGTTATGTGATCGTGGAATTGGCTCATTAATTGTAACAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAACTACAAAAATTAGCCAAGCATGGTGGCGCACACCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGGGGAGGTCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCGAGACTCCGTCTCAAAAAATAAAAATAAAAATAAAAATAAAAGAAAATAAATAAAGTAACAAATATACGACATCAGTTTAAGATCTTAATAACAGGGGAAACTGGGGGAACTCTATCTATTTTTTCAATTTTTCTAAATCTAAAACTGCTCTTTTTTAAATTTTCGAGACGGAGTCTCCCTCTTGTTGCCCAGGCTGGAGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGTCTCAGCCTCCTGAGTAGGATTACAGACGCCCGCCACCACATCCGGCTAATTTTTGTATTTTTAGTAGAGACGAAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATTCGCCCGCCTAGCCTCTCAAAGTGCTGGGATTATAGGAGTGAGCCACCCCGCCCGGCCTAAAACTGCTTTTTTTTTAAAAAGCCTATTAAAAAAGAAAAAGTTGCGGAAGCCGGC
|
GTCCTAGAATGAACCTCCAACTCCTGACCCACCTCTGCAGCACCTCCCCGCAACGCCACTATTCTCAGGGGCCCTCCGACTGGAGACAAGCGGCGTCGGCTCTGCGTCTCAGGATGGGGGTGTCTTCGGAGGATGAATGAGGCCAGTATGTGAGGTGCAGGTGCAACGCCATTTACAACCTGGAGGGCATCGTCTCCTTCTCATGCCCTAGAGTTAGGAGCTCACGGAGCCCTCAGGAATCGGGCCTGTCTTCCCTGCCCACTCCACCCTCCAGCAGCCACTCCCGACCTCACCGGGCCTCTCACCCACTGCTCTCTTGGGTTTGTCTTGGCAGCAAGAGCCCATCCTCCTGGCTGCCCACACATCTGCTTGGCCTCCTGAGCTCCCAGCACTGAGTATGTTTGACACTCAGACCTTCTGGGTTTGTCCACTGTCACTTCTTTCTTTCTATTGCTGCACTGAGAGTACACCCAGCCACCCCCACCCATTCTGAACTGTAAATCAACAACCATAAACGCTGGTAGTGGTGGACACAAAATAGGAATCATAATCCCAGCACTTTGGGAGGCCGAGGCGAGTGGATCAACTGAGGTCAGGAGTTCAAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTATTAAAAGCATAAAAATCCACCGGGCGTGCTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGTAGGAGAATCGCTTCCCGGGAGGCAGAAGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAATCAAACATCTAAGAAGCACATTCTTTGATCTATTTGTTCTCCTCCAAGATTACACTAAGGAAATAAAGATAATCCTAAGGCTTAGTGAGCTTGATTTCAGTTTCATGCTGGGGTAGGGATTTTTGTTGATTTGTCTTTTCCACTGATAGATCTTCTGCGCCTTGAGCAGGGCACGAAATGCACATGGCGCTGAGGAAAGACTTGTTGGCTAAATGAATGTGTCGTATCTTCTATTGCAGTTATGTAAAATGAGGTAACTGCAAACATCTATCTACCCCGTAGAGGGCTTACAAAATGATGGCTTCTTCACCGAACAGTCTGTGCCACCAGAAAAACAGCCCTTATGGAAAAATATGTAATGCCTACGGGAAGTCTTCATGACCTAGAGTTAACGGAAAAGTGCAGGCTGGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAACACTTGTGGGAGGCCAAGGCAGGCGGATCACTTGAACCTAGGCATTCAAGACCAGCCTGGGTGAAACCCCATCTCCTAAAAATACAAAAATCAGCTGGGTGTGATGGTGGGCACCCATAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCCCTTAACTGGGGGAGATTGAGGCTGCAGTAAGCCATGATTGCACCACTGCACTCCAGCTCGTGTCTCAAAAAAATAAAAAATAAATAAATAAGAGAGCGCAGGCAGGATCCTGGTCCCTCACCTCCAGTGAATGTGCACACGCAGCCACAGACCGGGCAAAGCATGTGACCTGGGCACATTTATTTATTTATTCTGGAACTACTTGCTGAGCATCCACTGTCTTGCCAGGCACTGGCCTAGGCGCTGGGCTGCAGCGTAAGGAGGCCTTGGCCTCTCAGAGCCTCATCTACACGGCATGGCCCCACCCCCAGCTCCTCAATCCAGAGTGACTACAGGGGGTTACACCTCATGTCCTCCTGGCTGTGTGGTGTCCAGGTAACAAACTCCTGCCCTCCAGGTTATGGATCAGCCCTCTTGTGATCAAAAGCAGGACTTACGGGGCAGTGTGGTGATGTGGGGACTCGGAGGCAGGCCGGCCCAGCTGCCAGGTGCACCTGCTCGGAGCATCGGGCCGGATCCACAGGGGCTCCTTGGCTTCCTTATCCTCTGGGGACCCCTTCTCCAGGCTCCCCTTCGCCGAGTGTGGCCCTGAGCGGTGGGGGCAGCCTGTGGGCCCCACTTCTGCCTGGGGGTCTCAGAAGGCATGCTGGGACCTGGCAAAGCAAGGAGAGAGGCGTCGGTTCAGGCTCGGATGCTGTGGGGTTCCAGCGAACCCTGCTGACCCGGCCCCCTCTGGGAGGCGTGCTCTGCTCCCTCAGAGAAGCCCAGGAAGAACTGCACAAAAACACAGGCACCAGCCCTGTGGGCAGCCGCTTGGCCATTTCTCTCCTATAGGCATATACCAAAAAAAATGGAAGCAGACAGTTGCTTGGGCCGGGTGCGGTGGCTCACGCCTCTCATCCCAGCACTTCGGGAGGCTGAGGCAGGAGGACCACTTGAGTCCACGAGGTCAAGACCAGCCTGGGCTCCAGCCCCATCTCTATTTAAAAAATAAAACAACAACAACAAAACAGATGCTTGCACACCCATGCTCACTGCTGCACTATTCACAAGTCAAAACGTGGAGGCAGCCCACGTATCCGCAGACGGATGAACACACACAGTAGGCTCATACACACACTAGAATATTACTCAGCCCTAAGAGAAATGAATTCTGGCACACGCTACAACACGGACGAACCTTCAGGACATTATGCCAAGCGAAATGAGCCAGACACAAAAGGACAAATACTGTGTGATTCCACTTCCACGATGAGGCACCTGGGACTCTCGAACGCCCCTCTATGTCTGGCAAATTCATAGAGATAGAAAGTAGAATAGAAGCGGCCAGCGGCTGAGGTGAGTGGGGAAGGGAGGGTGATTGTTTAATGGGTGCAGAGGTTGTGCTGGGGATGATGAAAACGTTCTGGGTGGAGATAGTCACGGTGGTTGCCTCACACTTAGAAATGGTTACAGTGATCAGTGTTACGTGTATTTTACCCAGGATTAAAAACACACACACGCACCTGAAATAGATGAGACAGAAAAAAAAAAGAAGAAAGCAAAAAGAAAGCCAGGCGAGGTCCCATCTGCTGCCCCTCCTCTGGGGGGACAAGGAACCCACGACCACCTCCCACCTTGCCTTCTTCAGAGGGCCCAGGACTGGGCTCAGCCCCGCTTCACCCTCCTTTGATTCCCCACATTCAACAGGAAGACTAAGTCCACAGCCGTCACTCACCGGACAGATGGTGCTGACAGTTCAGCACCGCTCAAACTCTGTAAGGAGACGTGACAACAGAATCTGTCATGGGATCCTGGAATAGAAAAGGGCAGTGAGGAGAAAACTCTGCAAATCTGACTCAAGCGCGGACTTTGGTTAATGTCAACAATGGTTATGTGATCGTGGAATTGGCTCATTAATTGTAACAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAACTACAAAAATTAGCCAAGCATGGTGGCGCACACCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGGGGAGGTCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCGAGACTCCGTCTCAAAAAATAAAAATAAAAATAAAAATAAAAGAAAATAAATAAAGTAACAAATATACGACATCAGTTTAAGATCTTAATAACAGGGGAAACTGGGGGAACTCTATCTATTTTTTCAATTTTTCTAAATCTAAAACTGCTCTTTTTTAAATTTTCGAGACGGAGTCTCCCTCTTGTTGCCCAGGCTGGAGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGTCTCAGCCTCCTGAGTAGGATTACAGACGCCCGCCACCACATCCGGCTAATTTTTGTATTTTTAGTAGAGACGAAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATTCGCCCGCCTAGCCTCTCAAAGTGCTGGGATTATAGGAGTGAGCCACCCCGCCCGGCCTAAAACTGCTTTTTTTTTAAAAAGCCTATTAAAAAAGAAAAAGTTGCGGAAGCCGGCN
|
pathogenic
| 319,633 |
Clinical significance of chromosome 21, position 43420344, gene SIK1 (salt inducible kinase 1): benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
CCTGGAAGCTGACAGGGAGCAGAACAGCTCCTCCCAAGCCCCCCTGAGCCTGCAGCACTGGGGTGGCGGACTGCGACCCCAGGAAGGGCGAGGCCAGCCTGACCGGGGAGCAGGCGCCCAGCAGCCCCTGAGTGGCCGGGGTGCCACTGAGCCCCGCGGGGCTTTTGCTCGCAGAGAAGGTCAGACAACTGTCAGAGCTGGTTCCCTCTGCAGGACTTGCCGTGGTGGAGGGGGAGACGACTATACCTGTGGGGGGAGGACAGCGCTTTTGATGCTGCAGTGCAAAGGAATAGGCTCCCCCGGCCACTGCTGGGCACACATGGCTGCGCTGGCCTCCCCATCCCCACCATCAACCTGGTGGGAAGAGGGCTCGAGGCCACCAGAGCCCAGGGAGCCACAAAGGCAAGCCACCATCACGGTGCAGCTGCAGGGGGCAGGTCATAGTGGGCCTCAGGCCAAGGGGCTGCCCTCCCGGCACCCAGGGGCGGCCTGGGGAGGACCCTGCTGGAGGCCAGACCCCATGCTGTATCCTCCACTGGAACGACCACATGCAGGGCAGGCTCTAAACATCAACTGTGTGGTCTCAGGGATTAAAACAAATGGCAAATCCTGAGAAGTCCAACCTGAGAGGCTGCCGGGCAAAACGTCCATTCTAAATTAGCCCACCCTCACGTCGACCGTAAGCCTATCCACCGGTGTCCTCCTGGGCCCCCGGGGACACTTACATGGCGCGGTGAGTGGGGAGAGGCGGGTGGAGACCTCGGCCAGGGTGTGCCTCCGGCCCGTGCTGCTGGGCAGGGACTCCTGCGTGTCCTGCTCCTCCTCTAGGCCCGGCCCCTGCCTGGCCTCCTCACTGATGGCTGTGTCCAGCAGGCTGCTTGGGGACACGGGCCGGGGCCGGAACACTCCGCTGCAGCTGGCATCCACCGGGAAGAACAAGGGCTGCGTTGGAGAGACACAAGCCAGTGACTTCTCGGACTCCAGGTGACCCGGGCACACCGGGGGCACCAGGGCTGGGCTGAGGCGAGCCCTCTGCACACCCGCTGTGGGCACTCACCCACTGCAGCGAGCTCTGGAGCTCACAGTCCATCTCGGCCTGGAGGACGGACTGCACCAAGGTCTGCGGCTGCGGGCACAGCAAGGCAGGTCGGAAAGGGTCGGTGGAAAGACCTTCCTGAGGCACCTGGGGCCGGCAGACGGGAAAGACGCTGTCAGGGGAGCGACTCCGGACCACCAGCGCCATCAAGAGAAGAAACAAGCTGGCTTCTGTCTGGAGTGCAAGCTGCCTCGCTGGTGGGCATGACAGCTGACGGAGGGACACTGGCTGGCCAGGCTGGGCTCAGGACCAGGTGCTGGTGCTGCGCTGCCAGAAGGTGGCGTGACAGGCCGGCCCCAGGGATGAGTCAGGGACAAGTGGCCTCTGGGCAGAGTCCAGCCCCCAGCAGCTGGCACCCCCTTCCCCACGAGGCCTGGGACCCACTGCCCACGCAAGGAACCGCCCTCCAAGCCGGTGCCTGACAGGGGAGGGAGCCTGGGGCCTGGGAGGAGACTCCTCCCCCTCACCTCCAAACCACTGAGGTCCGAGCTCCGAGGCCGCGGCTGCCTGGCAGGCCCGGGGCGGGCGCACTGGGCATTCCGATACTCCTTGAGCCGCTCAAGGAGGAGGTAATAAATGGCAGCAAAGTGGTTATAGCTGCTGTTTTGCAGTGACTGGGAACAAGAGGAGCAGAGATCAGCATGGGGATGGCGGGGAGCCCCAGGGCCCACCCGATCCCAGGTTATTCTTGGGTGACTGAGAATATCCTTTAGTGGGGTGGACAAGCCGGCCCCTAAATTAGCCTGTGCTCCCGTTTTAACTCAGCTGGTGAGTGCCTGCTTCCCCTGAGACAGCTGCCTAGCCCCTGCGGGTGAGGCCAGGGCAAGTGTGGCCAGGCTCACCTCCACCGTCCTCTGCCGGTCCACGCCCAGGGTCTGCATGATACCCAGCGCCTGCTCATCGTAGTCGCCCAGGTTGGAGGTGTAGCTGTGTGCGGAGAAGGCGGGGCAGGCGGGTCCCGGCAAGCAGGGCTCAGCCCGCATCCACCGGTGCTGCCGGATCTGGGCGATGGTGATGCGCCTGGCGGGGTCCACCACCAGCATGCGGCGGATCAGGCTCTCACAGTCTGTGGAGGGGCCAGGAGGCTGAGCCAGGGCGGCCGGGACCTCGGCTGCGCTCCCACCCACCGCCCCACGTGGTTTGACACGCCAGGGCCCAGGAGCAGGGGCCGGGCCATCGGCTCAGTCCTGCCACCCAAGGGGAGCCATCAGCCAGGGATCCAGACCCTGGGGGCTGCCACACTTTGTGTCCACCACACAGAGAACCACTTAGGTTCACCCTTCTGCCGTGCCCCACACCTGAGCACCAGGTGGACAGGCATCTTTATGACACAGAAAAGCCGGGTGAGCCACAGCCAGTGGGTTGGACTCAGGGATGATGCCAGCACCCTGGGTGCGGGTACTGGGCGGGGACGGCAGGCGCAAGGCACAAGCCTGTGCAGCAAGGGCACCCGTCCACCCTCGAAATAGGGCACTGAGAAGGCATCCATGGGCTGGGTTTCTCCCGCAGCCCACAGTAACCTGGGCCTGATTCCCAGACTCAACAAGGACTCAGAAGCCAGCCACGAAGGGGCTGCAGGAGACACAGGCCCCTGCCCAGGCGAGACCACACGACTCACCTTGAGACATGAAGAAGGGGATGCGGAAGCGGCCCTCCAGCACCCGCTGTCTCAGCGTCGGCAGGTTAGGCCCATCGAAGGGGAGAGAACCGCAGACCAGGACGTACAGCACCACGCCCAGGCTCTGTTGAGGACCACAGAGCCACATCAGCGCCAGGGCGGTGCCCCCGGGAACACGGCGCCCTCGGGGAACGCGGCCTCGGGAAGGGGGTCTGCGCGCACAGGGCTCCTACCCAGATGTCCAGCTGGGGGCCTTCATACTCCTTCCCCTCAAAGACTTCCGGGGCGGCATACGGGGGGCTCCCACACCACGTGGACAGAGGCTCTCCTGACTTGTAGAAATTCCCAAATCCAAAATCTGAGCGGCAAAGAAACAGATGGATGAGGTTAAACGGCAAATGGCAAGGGGCTGCGGTTTCGGCACAGGGGCTGTGGTTTCGGCACATGCCGGGAAGCTGGGGCTGCTTGCGGGCACACTCCCACCCCGGGGCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCGGACCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCAGACCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCGGACCCTCCGTGCCTGCCAGCTTGATGTCCATGTTGCCATCCAGCAGGAGGTTCTCGGTCTTGAGGTCCCGGTGGACGATGTGATGGTCGTGACAGTACTCCACGGCCGACAGGATTTGCCAGAACTTCTTCCGCGCCTCGTTCTCACTCAGGTGCCCGTTGGAAGTCAAATAATCTGAGGAGCCACAAAACAAAGCTACAGCCCCCAGGGCAAAGCCTGCCCACCACCCATGGAGCCCTGGGGAACACCGCGGGGTCCTGGGATGTGTGGCCCAGACACTGGCCGCGCAAATCCAGACGCGTTCGTGCCATTGGTTTTCAACAGATACTGAAAACGAGTGTGGCTTACCAAACATTTCTCCATTTTTAGCAAATTCAGTGACGATGTAAAGCATGTCCTTTGTTTCCATAACCTAAAGAAGAAAGACCTGACATTTAACCGCACAAAAAAGGCACAAGGCAGCGCTACAAACCATCCACCAGAACCCCAGGAAATTTCTAACTTCTCTAGGACAAAGGCATTCATCATTTAAAAATGCAAAGAAAAAGAAAAATTTCTCAAATAAAAAAAAAATAGGAGATTCCTACTCACAAAGACAGCTTTGAAAAATCAGAGGTGAATTCCTCACTGACTTGCCTATCCTGATACACCTTTGCTCTCACAAAAGGTCTAAATATATTAGAATTCCCCTCTGTGGTCATATTTAATTCAAGACACCTCACATACAATTTGAGAATGCTTAGGCCGGGGCATGGTGGCTCACGCC
|
CCTGGAAGCTGACAGGGAGCAGAACAGCTCCTCCCAAGCCCCCCTGAGCCTGCAGCACTGGGGTGGCGGACTGCGACCCCAGGAAGGGCGAGGCCAGCCTGACCGGGGAGCAGGCGCCCAGCAGCCCCTGAGTGGCCGGGGTGCCACTGAGCCCCGCGGGGCTTTTGCTCGCAGAGAAGGTCAGACAACTGTCAGAGCTGGTTCCCTCTGCAGGACTTGCCGTGGTGGAGGGGGAGACGACTATACCTGTGGGGGGAGGACAGCGCTTTTGATGCTGCAGTGCAAAGGAATAGGCTCCCCCGGCCACTGCTGGGCACACATGGCTGCGCTGGCCTCCCCATCCCCACCATCAACCTGGTGGGAAGAGGGCTCGAGGCCACCAGAGCCCAGGGAGCCACAAAGGCAAGCCACCATCACGGTGCAGCTGCAGGGGGCAGGTCATAGTGGGCCTCAGGCCAAGGGGCTGCCCTCCCGGCACCCAGGGGCGGCCTGGGGAGGACCCTGCTGGAGGCCAGACCCCATGCTGTATCCTCCACTGGAACGACCACATGCAGGGCAGGCTCTAAACATCAACTGTGTGGTCTCAGGGATTAAAACAAATGGCAAATCCTGAGAAGTCCAACCTGAGAGGCTGCCGGGCAAAACGTCCATTCTAAATTAGCCCACCCTCACGTCGACCGTAAGCCTATCCACCGGTGTCCTCCTGGGCCCCCGGGGACACTTACATGGCGCGGTGAGTGGGGAGAGGCGGGTGGAGACCTCGGCCAGGGTGTGCCTCCGGCCCGTGCTGCTGGGCAGGGACTCCTGCGTGTCCTGCTCCTCCTCTAGGCCCGGCCCCTGCCTGGCCTCCTCACTGATGGCTGTGTCCAGCAGGCTGCTTGGGGACACGGGCCGGGGCCGGAACACTCCGCTGCAGCTGGCATCCACCGGGAAGAACAAGGGCTGCGTTGGAGAGACACAAGCCAGTGACTTCTCGGACTCCAGGTGACCCGGGCACACCGGGGGCACCAGGGCTGGGCTGAGGCGAGCCCTCTGCACACCCGCTGTGGGCACTCACCCACTGCAGCGAGCTCTGGAGCTCACAGTCCATCTCGGCCTGGAGGACGGACTGCACCAAGGTCTGCGGCTGCGGGCACAGCAAGGCAGGTCGGAAAGGGTCGGTGGAAAGACCTTCCTGAGGCACCTGGGGCCGGCAGACGGGAAAGACGCTGTCAGGGGAGCGACTCCGGACCACCAGCGCCATCAAGAGAAGAAACAAGCTGGCTTCTGTCTGGAGTGCAAGCTGCCTCGCTGGTGGGCATGACAGCTGACGGAGGGACACTGGCTGGCCAGGCTGGGCTCAGGACCAGGTGCTGGTGCTGCGCTGCCAGAAGGTGGCGTGACAGGCCGGCCCCAGGGATGAGTCAGGGACAAGTGGCCTCTGGGCAGAGTCCAGCCCCCAGCAGCTGGCACCCCCTTCCCCACGAGGCCTGGGACCCACTGCCCACGCAAGGAACCGCCCTCCAAGCCGGTGCCTGACAGGGGAGGGAGCCTGGGGCCTGGGAGGAGACTCCTCCCCCTCACCTCCAAACCACTGAGGTCCGAGCTCCGAGGCCGCGGCTGCCTGGCAGGCCCGGGGCGGGCGCACTGGGCATTCCGATACTCCTTGAGCCGCTCAAGGAGGAGGTAATAAATGGCAGCAAAGTGGTTATAGCTGCTGTTTTGCAGTGACTGGGAACAAGAGGAGCAGAGATCAGCATGGGGATGGCGGGGAGCCCCAGGGCCCACCCGATCCCAGGTTATTCTTGGGTGACTGAGAATATCCTTTAGTGGGGTGGACAAGCCGGCCCCTAAATTAGCCTGTGCTCCCGTTTTAACTCAGCTGGTGAGTGCCTGCTTCCCCTGAGACAGCTGCCTAGCCCCTGCGGGTGAGGCCAGGGCAAGTGTGGCCAGGCTCACCTCCACCGTCCTCTGCCGGTCCACGCCCAGGGTCTGCATGATACCCAGCGCCTGCTCATCGTAGTCGCCCAGGTTGGAGGTGTAGCTGTGTGCGGAGAAGGCGGGGCAGGCTCCCGGCAAGCAGGGCTCAGCCCGCATCCACCGGTGCTGCCGGATCTGGGCGATGGTGATGCGCCTGGCGGGGTCCACCACCAGCATGCGGCGGATCAGGCTCTCACAGTCTGTGGAGGGGCCAGGAGGCTGAGCCAGGGCGGCCGGGACCTCGGCTGCGCTCCCACCCACCGCCCCACGTGGTTTGACACGCCAGGGCCCAGGAGCAGGGGCCGGGCCATCGGCTCAGTCCTGCCACCCAAGGGGAGCCATCAGCCAGGGATCCAGACCCTGGGGGCTGCCACACTTTGTGTCCACCACACAGAGAACCACTTAGGTTCACCCTTCTGCCGTGCCCCACACCTGAGCACCAGGTGGACAGGCATCTTTATGACACAGAAAAGCCGGGTGAGCCACAGCCAGTGGGTTGGACTCAGGGATGATGCCAGCACCCTGGGTGCGGGTACTGGGCGGGGACGGCAGGCGCAAGGCACAAGCCTGTGCAGCAAGGGCACCCGTCCACCCTCGAAATAGGGCACTGAGAAGGCATCCATGGGCTGGGTTTCTCCCGCAGCCCACAGTAACCTGGGCCTGATTCCCAGACTCAACAAGGACTCAGAAGCCAGCCACGAAGGGGCTGCAGGAGACACAGGCCCCTGCCCAGGCGAGACCACACGACTCACCTTGAGACATGAAGAAGGGGATGCGGAAGCGGCCCTCCAGCACCCGCTGTCTCAGCGTCGGCAGGTTAGGCCCATCGAAGGGGAGAGAACCGCAGACCAGGACGTACAGCACCACGCCCAGGCTCTGTTGAGGACCACAGAGCCACATCAGCGCCAGGGCGGTGCCCCCGGGAACACGGCGCCCTCGGGGAACGCGGCCTCGGGAAGGGGGTCTGCGCGCACAGGGCTCCTACCCAGATGTCCAGCTGGGGGCCTTCATACTCCTTCCCCTCAAAGACTTCCGGGGCGGCATACGGGGGGCTCCCACACCACGTGGACAGAGGCTCTCCTGACTTGTAGAAATTCCCAAATCCAAAATCTGAGCGGCAAAGAAACAGATGGATGAGGTTAAACGGCAAATGGCAAGGGGCTGCGGTTTCGGCACAGGGGCTGTGGTTTCGGCACATGCCGGGAAGCTGGGGCTGCTTGCGGGCACACTCCCACCCCGGGGCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCGGACCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCAGACCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCGGACCCTCCGTGCCTGCCAGCTTGATGTCCATGTTGCCATCCAGCAGGAGGTTCTCGGTCTTGAGGTCCCGGTGGACGATGTGATGGTCGTGACAGTACTCCACGGCCGACAGGATTTGCCAGAACTTCTTCCGCGCCTCGTTCTCACTCAGGTGCCCGTTGGAAGTCAAATAATCTGAGGAGCCACAAAACAAAGCTACAGCCCCCAGGGCAAAGCCTGCCCACCACCCATGGAGCCCTGGGGAACACCGCGGGGTCCTGGGATGTGTGGCCCAGACACTGGCCGCGCAAATCCAGACGCGTTCGTGCCATTGGTTTTCAACAGATACTGAAAACGAGTGTGGCTTACCAAACATTTCTCCATTTTTAGCAAATTCAGTGACGATGTAAAGCATGTCCTTTGTTTCCATAACCTAAAGAAGAAAGACCTGACATTTAACCGCACAAAAAAGGCACAAGGCAGCGCTACAAACCATCCACCAGAACCCCAGGAAATTTCTAACTTCTCTAGGACAAAGGCATTCATCATTTAAAAATGCAAAGAAAAAGAAAAATTTCTCAAATAAAAAAAAAATAGGAGATTCCTACTCACAAAGACAGCTTTGAAAAATCAGAGGTGAATTCCTCACTGACTTGCCTATCCTGATACACCTTTGCTCTCACAAAAGGTCTAAATATATTAGAATTCCCCTCTGTGGTCATATTTAATTCAAGACACCTCACATACAATTTGAGAATGCTTAGGCCGGGGCATGGTGGCTCACGCCNNN
|
benign
| 319,760 |
A mutation at chromosome position 43421627 on chromosome 21 in gene SIK1 (salt inducible kinase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
benign
|
TGCCTCGCTGGTGGGCATGACAGCTGACGGAGGGACACTGGCTGGCCAGGCTGGGCTCAGGACCAGGTGCTGGTGCTGCGCTGCCAGAAGGTGGCGTGACAGGCCGGCCCCAGGGATGAGTCAGGGACAAGTGGCCTCTGGGCAGAGTCCAGCCCCCAGCAGCTGGCACCCCCTTCCCCACGAGGCCTGGGACCCACTGCCCACGCAAGGAACCGCCCTCCAAGCCGGTGCCTGACAGGGGAGGGAGCCTGGGGCCTGGGAGGAGACTCCTCCCCCTCACCTCCAAACCACTGAGGTCCGAGCTCCGAGGCCGCGGCTGCCTGGCAGGCCCGGGGCGGGCGCACTGGGCATTCCGATACTCCTTGAGCCGCTCAAGGAGGAGGTAATAAATGGCAGCAAAGTGGTTATAGCTGCTGTTTTGCAGTGACTGGGAACAAGAGGAGCAGAGATCAGCATGGGGATGGCGGGGAGCCCCAGGGCCCACCCGATCCCAGGTTATTCTTGGGTGACTGAGAATATCCTTTAGTGGGGTGGACAAGCCGGCCCCTAAATTAGCCTGTGCTCCCGTTTTAACTCAGCTGGTGAGTGCCTGCTTCCCCTGAGACAGCTGCCTAGCCCCTGCGGGTGAGGCCAGGGCAAGTGTGGCCAGGCTCACCTCCACCGTCCTCTGCCGGTCCACGCCCAGGGTCTGCATGATACCCAGCGCCTGCTCATCGTAGTCGCCCAGGTTGGAGGTGTAGCTGTGTGCGGAGAAGGCGGGGCAGGCGGGTCCCGGCAAGCAGGGCTCAGCCCGCATCCACCGGTGCTGCCGGATCTGGGCGATGGTGATGCGCCTGGCGGGGTCCACCACCAGCATGCGGCGGATCAGGCTCTCACAGTCTGTGGAGGGGCCAGGAGGCTGAGCCAGGGCGGCCGGGACCTCGGCTGCGCTCCCACCCACCGCCCCACGTGGTTTGACACGCCAGGGCCCAGGAGCAGGGGCCGGGCCATCGGCTCAGTCCTGCCACCCAAGGGGAGCCATCAGCCAGGGATCCAGACCCTGGGGGCTGCCACACTTTGTGTCCACCACACAGAGAACCACTTAGGTTCACCCTTCTGCCGTGCCCCACACCTGAGCACCAGGTGGACAGGCATCTTTATGACACAGAAAAGCCGGGTGAGCCACAGCCAGTGGGTTGGACTCAGGGATGATGCCAGCACCCTGGGTGCGGGTACTGGGCGGGGACGGCAGGCGCAAGGCACAAGCCTGTGCAGCAAGGGCACCCGTCCACCCTCGAAATAGGGCACTGAGAAGGCATCCATGGGCTGGGTTTCTCCCGCAGCCCACAGTAACCTGGGCCTGATTCCCAGACTCAACAAGGACTCAGAAGCCAGCCACGAAGGGGCTGCAGGAGACACAGGCCCCTGCCCAGGCGAGACCACACGACTCACCTTGAGACATGAAGAAGGGGATGCGGAAGCGGCCCTCCAGCACCCGCTGTCTCAGCGTCGGCAGGTTAGGCCCATCGAAGGGGAGAGAACCGCAGACCAGGACGTACAGCACCACGCCCAGGCTCTGTTGAGGACCACAGAGCCACATCAGCGCCAGGGCGGTGCCCCCGGGAACACGGCGCCCTCGGGGAACGCGGCCTCGGGAAGGGGGTCTGCGCGCACAGGGCTCCTACCCAGATGTCCAGCTGGGGGCCTTCATACTCCTTCCCCTCAAAGACTTCCGGGGCGGCATACGGGGGGCTCCCACACCACGTGGACAGAGGCTCTCCTGACTTGTAGAAATTCCCAAATCCAAAATCTGAGCGGCAAAGAAACAGATGGATGAGGTTAAACGGCAAATGGCAAGGGGCTGCGGTTTCGGCACAGGGGCTGTGGTTTCGGCACATGCCGGGAAGCTGGGGCTGCTTGCGGGCACACTCCCACCCCGGGGCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCGGACCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCAGACCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCGGACCCTCCGTGCCTGCCAGCTTGATGTCCATGTTGCCATCCAGCAGGAGGTTCTCGGTCTTGAGGTCCCGGTGGACGATGTGATGGTCGTGACAGTACTCCACGGCCGACAGGATTTGCCAGAACTTCTTCCGCGCCTCGTTCTCACTCAGGTGCCCGTTGGAAGTCAAATAATCTGAGGAGCCACAAAACAAAGCTACAGCCCCCAGGGCAAAGCCTGCCCACCACCCATGGAGCCCTGGGGAACACCGCGGGGTCCTGGGATGTGTGGCCCAGACACTGGCCGCGCAAATCCAGACGCGTTCGTGCCATTGGTTTTCAACAGATACTGAAAACGAGTGTGGCTTACCAAACATTTCTCCATTTTTAGCAAATTCAGTGACGATGTAAAGCATGTCCTTTGTTTCCATAACCTAAAGAAGAAAGACCTGACATTTAACCGCACAAAAAAGGCACAAGGCAGCGCTACAAACCATCCACCAGAACCCCAGGAAATTTCTAACTTCTCTAGGACAAAGGCATTCATCATTTAAAAATGCAAAGAAAAAGAAAAATTTCTCAAATAAAAAAAAAATAGGAGATTCCTACTCACAAAGACAGCTTTGAAAAATCAGAGGTGAATTCCTCACTGACTTGCCTATCCTGATACACCTTTGCTCTCACAAAAGGTCTAAATATATTAGAATTCCCCTCTGTGGTCATATTTAATTCAAGACACCTCACATACAATTTGAGAATGCTTAGGCCGGGGCATGGTGGCTCACGCCCTGTAATCCCAGCACTTCGGGAGGCCAAGGCAGGAGAATCGCTTGAGTTCGAGACCAGCCTGGTCAACACGGCAAGACCCCATCTCTACAAAAAATACAAAAACTAGCTAGGTGAGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCATTCGAACCCGCAAGGCGGAGGTTGCAGTGAGCCGAGATCGTACCACTGCACTCCAACTTGGGCGACAGAGCGAGACTCCATCTCAAAAAAGGAGAGACAGTATTCTGAAGGCTACAGAGGAGGAGATTGCTGGAAGTCTGCTGGGCTTTATAGAAGCCTAGTAGGCAACAGATGATTCCAGCCAACGGTCAGAGCCACCTGGGTAATAGAGAATGCACACCCCATTCCCACTCGCTTGATTGACAGGATGAATGACGCTGTGGGAACCCAGCTTTATTGACAGGATGAATGAGGCTGTGAGAATCCAGCCTCATTCACTCAGCATGTAGCCATTCACTCAGCATGTAGCCACACAACAGCCATGCCAACATAGCCCTTTGAAGTTCATTCACTAATCAATAACTTTATTTTACTTAAAAAGAGATTTAAAAATATAACTTATGTCTGTGAGTATTGAAAAATTTTGGAGAGGATGAGGCAATATATTCTTATGAAAAAAGATTTTTTTGGGTTCAAAATATAGTTATTCCTTTAAAAAGATGCTTTGTGCTGGAGGTGGTGGCTCATGCTTGTAATCCCAGTACTTTGGGATCACCCAGGCTGATCACTTGAGGTTAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGTCACGATCCATAGCGCCACTGCACTCCAGCCTGGGCGACAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGATGCTTCAAAGATTGCTGCTTTGAGTTATAAATCTAAAAAGAAAAGTGTTCTATAAATTCTAGCAGTTTGGCAAGAATTTTAACTGCCCCGCCCCTGTGGGTGGTACAATAACTCTAAGACCACTGCTGACCCGTCCCCAACTGAAGAAAGGGAGGAGGAGGAAAAGAATTAAAAGTCAAAGTGTTTGAACTTTTTGAAAACTTGAAAAAAAGAGGGAAGTGTCTCAGCAGGGTTCTGGGGCCCCGGCCAGCGGAATGAAAATT
|
TGCCTCGCTGGTGGGCATGACAGCTGACGGAGGGACACTGGCTGGCCAGGCTGGGCTCAGGACCAGGTGCTGGTGCTGCGCTGCCAGAAGGTGGCGTGACAGGCCGGCCCCAGGGATGAGTCAGGGACAAGTGGCCTCTGGGCAGAGTCCAGCCCCCAGCAGCTGGCACCCCCTTCCCCACGAGGCCTGGGACCCACTGCCCACGCAAGGAACCGCCCTCCAAGCCGGTGCCTGACAGGGGAGGGAGCCTGGGGCCTGGGAGGAGACTCCTCCCCCTCACCTCCAAACCACTGAGGTCCGAGCTCCGAGGCCGCGGCTGCCTGGCAGGCCCGGGGCGGGCGCACTGGGCATTCCGATACTCCTTGAGCCGCTCAAGGAGGAGGTAATAAATGGCAGCAAAGTGGTTATAGCTGCTGTTTTGCAGTGACTGGGAACAAGAGGAGCAGAGATCAGCATGGGGATGGCGGGGAGCCCCAGGGCCCACCCGATCCCAGGTTATTCTTGGGTGACTGAGAATATCCTTTAGTGGGGTGGACAAGCCGGCCCCTAAATTAGCCTGTGCTCCCGTTTTAACTCAGCTGGTGAGTGCCTGCTTCCCCTGAGACAGCTGCCTAGCCCCTGCGGGTGAGGCCAGGGCAAGTGTGGCCAGGCTCACCTCCACCGTCCTCTGCCGGTCCACGCCCAGGGTCTGCATGATACCCAGCGCCTGCTCATCGTAGTCGCCCAGGTTGGAGGTGTAGCTGTGTGCGGAGAAGGCGGGGCAGGCGGGTCCCGGCAAGCAGGGCTCAGCCCGCATCCACCGGTGCTGCCGGATCTGGGCGATGGTGATGCGCCTGGCGGGGTCCACCACCAGCATGCGGCGGATCAGGCTCTCACAGTCTGTGGAGGGGCCAGGAGGCTGAGCCAGGGCGGCCGGGACCTCGGCTGCGCTCCCACCCACCGCCCCACGTGGTTTGACACGCCAGGGCCCAGGAGCAGGGGCCGGGCCATCGGCTCAGTCCTGCCACCCAAGGGGAGCCATCAGCCAGGGATCCAGACCCTGGGGGCTGCCACACTTTGTGTCCACCACACAGAGAACCACTTAGGTTCACCCTTCTGCCGTGCCCCACACCTGAGCACCAGGTGGACAGGCATCTTTATGACACAGAAAAGCCGGGTGAGCCACAGCCAGTGGGTTGGACTCAGGGATGATGCCAGCACCCTGGGTGCGGGTACTGGGCGGGGACGGCAGGCGCAAGGCACAAGCCTGTGCAGCAAGGGCACCCGTCCACCCTCGAAATAGGGCACTGAGAAGGCATCCATGGGCTGGGTTTCTCCCGCAGCCCACAGTAACCTGGGCCTGATTCCCAGACTCAACAAGGACTCAGAAGCCAGCCACGAAGGGGCTGCAGGAGACACAGGCCCCTGCCCAGGCGAGACCACACGACTCACCTTGAGACATGAAGAAGGGGATGCGGAAGCGGCCCTCCAGCACCCGCTGTCTCAGCGTCGGCAGGTTAGGCCCATCGAAGGGGAGAGAACCGCAGACCAGGACGTACAGCACCACGCCCAGGCTCTGTTGAGGACCACAGAGCCACATCAGCGCCAGGGCGGTGCCCCCGGGAACACGGCGCCCTCGGGGAACGCGGCCTCGGGAAGGGGGTCTGCGCGCACAGGGCTCCTACCCAGATGTCCAGCTGGGGGCCTTCATACTCCTTCCCCTCAAAGACTTCCGGGGCGGCATACGGGGGGCTCCCACACCACGTGGACAGAGGCTCTCCTGACTTGTAGAAATTCCCAAATCCAAAATCTGAGCGGCAAAGAAACAGATGGATGAGGTTAAACGGCAAATGGCAAGGGGCTGCGGTTTCGGCACAGGGGCTGTGGTTTCGGCACATGCCGGGAAGCTGGGGCTGCTTGCGGGCACACTCCCACCCCGGGGCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCGGACCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCAGACCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCGGGGCCTCCGTGCCTGCCAGCTTGATGTCCATGTTGCCATCCAGCAGGAGGTTCTCGGTCTTGAGGTCCCGGTGGACGATGTGATGGTCGTGACAGTACTCCACGGCCGACAGGATTTGCCAGAACTTCTTCCGCGCCTCGTTCTCACTCAGGTGCCCGTTGGAAGTCAAATAATCTGAGGAGCCACAAAACAAAGCTACAGCCCCCAGGGCAAAGCCTGCCCACCACCCATGGAGCCCTGGGGAACACCGCGGGGTCCTGGGATGTGTGGCCCAGACACTGGCCGCGCAAATCCAGACGCGTTCGTGCCATTGGTTTTCAACAGATACTGAAAACGAGTGTGGCTTACCAAACATTTCTCCATTTTTAGCAAATTCAGTGACGATGTAAAGCATGTCCTTTGTTTCCATAACCTAAAGAAGAAAGACCTGACATTTAACCGCACAAAAAAGGCACAAGGCAGCGCTACAAACCATCCACCAGAACCCCAGGAAATTTCTAACTTCTCTAGGACAAAGGCATTCATCATTTAAAAATGCAAAGAAAAAGAAAAATTTCTCAAATAAAAAAAAAATAGGAGATTCCTACTCACAAAGACAGCTTTGAAAAATCAGAGGTGAATTCCTCACTGACTTGCCTATCCTGATACACCTTTGCTCTCACAAAAGGTCTAAATATATTAGAATTCCCCTCTGTGGTCATATTTAATTCAAGACACCTCACATACAATTTGAGAATGCTTAGGCCGGGGCATGGTGGCTCACGCCCTGTAATCCCAGCACTTCGGGAGGCCAAGGCAGGAGAATCGCTTGAGTTCGAGACCAGCCTGGTCAACACGGCAAGACCCCATCTCTACAAAAAATACAAAAACTAGCTAGGTGAGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCATTCGAACCCGCAAGGCGGAGGTTGCAGTGAGCCGAGATCGTACCACTGCACTCCAACTTGGGCGACAGAGCGAGACTCCATCTCAAAAAAGGAGAGACAGTATTCTGAAGGCTACAGAGGAGGAGATTGCTGGAAGTCTGCTGGGCTTTATAGAAGCCTAGTAGGCAACAGATGATTCCAGCCAACGGTCAGAGCCACCTGGGTAATAGAGAATGCACACCCCATTCCCACTCGCTTGATTGACAGGATGAATGACGCTGTGGGAACCCAGCTTTATTGACAGGATGAATGAGGCTGTGAGAATCCAGCCTCATTCACTCAGCATGTAGCCATTCACTCAGCATGTAGCCACACAACAGCCATGCCAACATAGCCCTTTGAAGTTCATTCACTAATCAATAACTTTATTTTACTTAAAAAGAGATTTAAAAATATAACTTATGTCTGTGAGTATTGAAAAATTTTGGAGAGGATGAGGCAATATATTCTTATGAAAAAAGATTTTTTTGGGTTCAAAATATAGTTATTCCTTTAAAAAGATGCTTTGTGCTGGAGGTGGTGGCTCATGCTTGTAATCCCAGTACTTTGGGATCACCCAGGCTGATCACTTGAGGTTAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGTCACGATCCATAGCGCCACTGCACTCCAGCCTGGGCGACAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGATGCTTCAAAGATTGCTGCTTTGAGTTATAAATCTAAAAAGAAAAGTGTTCTATAAATTCTAGCAGTTTGGCAAGAATTTTAACTGCCCCGCCCCTGTGGGTGGTACAATAACTCTAAGACCACTGCTGACCCGTCCCCAACTGAAGAAAGGGAGGAGGAGGAAAAGAATTAAAAGTCAAAGTGTTTGAACTTTTTGAAAACTTGAAAAAAAGAGGGAAGTGTCTCAGCAGGGTTCTGGGGCCCCGGCCAGCGGAATGAAAATT
|
benign
| 319,774 |
Chromosome 21, position 43422039, gene SIK1 (salt inducible kinase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
GCTGTTTTGCAGTGACTGGGAACAAGAGGAGCAGAGATCAGCATGGGGATGGCGGGGAGCCCCAGGGCCCACCCGATCCCAGGTTATTCTTGGGTGACTGAGAATATCCTTTAGTGGGGTGGACAAGCCGGCCCCTAAATTAGCCTGTGCTCCCGTTTTAACTCAGCTGGTGAGTGCCTGCTTCCCCTGAGACAGCTGCCTAGCCCCTGCGGGTGAGGCCAGGGCAAGTGTGGCCAGGCTCACCTCCACCGTCCTCTGCCGGTCCACGCCCAGGGTCTGCATGATACCCAGCGCCTGCTCATCGTAGTCGCCCAGGTTGGAGGTGTAGCTGTGTGCGGAGAAGGCGGGGCAGGCGGGTCCCGGCAAGCAGGGCTCAGCCCGCATCCACCGGTGCTGCCGGATCTGGGCGATGGTGATGCGCCTGGCGGGGTCCACCACCAGCATGCGGCGGATCAGGCTCTCACAGTCTGTGGAGGGGCCAGGAGGCTGAGCCAGGGCGGCCGGGACCTCGGCTGCGCTCCCACCCACCGCCCCACGTGGTTTGACACGCCAGGGCCCAGGAGCAGGGGCCGGGCCATCGGCTCAGTCCTGCCACCCAAGGGGAGCCATCAGCCAGGGATCCAGACCCTGGGGGCTGCCACACTTTGTGTCCACCACACAGAGAACCACTTAGGTTCACCCTTCTGCCGTGCCCCACACCTGAGCACCAGGTGGACAGGCATCTTTATGACACAGAAAAGCCGGGTGAGCCACAGCCAGTGGGTTGGACTCAGGGATGATGCCAGCACCCTGGGTGCGGGTACTGGGCGGGGACGGCAGGCGCAAGGCACAAGCCTGTGCAGCAAGGGCACCCGTCCACCCTCGAAATAGGGCACTGAGAAGGCATCCATGGGCTGGGTTTCTCCCGCAGCCCACAGTAACCTGGGCCTGATTCCCAGACTCAACAAGGACTCAGAAGCCAGCCACGAAGGGGCTGCAGGAGACACAGGCCCCTGCCCAGGCGAGACCACACGACTCACCTTGAGACATGAAGAAGGGGATGCGGAAGCGGCCCTCCAGCACCCGCTGTCTCAGCGTCGGCAGGTTAGGCCCATCGAAGGGGAGAGAACCGCAGACCAGGACGTACAGCACCACGCCCAGGCTCTGTTGAGGACCACAGAGCCACATCAGCGCCAGGGCGGTGCCCCCGGGAACACGGCGCCCTCGGGGAACGCGGCCTCGGGAAGGGGGTCTGCGCGCACAGGGCTCCTACCCAGATGTCCAGCTGGGGGCCTTCATACTCCTTCCCCTCAAAGACTTCCGGGGCGGCATACGGGGGGCTCCCACACCACGTGGACAGAGGCTCTCCTGACTTGTAGAAATTCCCAAATCCAAAATCTGAGCGGCAAAGAAACAGATGGATGAGGTTAAACGGCAAATGGCAAGGGGCTGCGGTTTCGGCACAGGGGCTGTGGTTTCGGCACATGCCGGGAAGCTGGGGCTGCTTGCGGGCACACTCCCACCCCGGGGCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCGGACCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCAGACCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCGGACCCTCCGTGCCTGCCAGCTTGATGTCCATGTTGCCATCCAGCAGGAGGTTCTCGGTCTTGAGGTCCCGGTGGACGATGTGATGGTCGTGACAGTACTCCACGGCCGACAGGATTTGCCAGAACTTCTTCCGCGCCTCGTTCTCACTCAGGTGCCCGTTGGAAGTCAAATAATCTGAGGAGCCACAAAACAAAGCTACAGCCCCCAGGGCAAAGCCTGCCCACCACCCATGGAGCCCTGGGGAACACCGCGGGGTCCTGGGATGTGTGGCCCAGACACTGGCCGCGCAAATCCAGACGCGTTCGTGCCATTGGTTTTCAACAGATACTGAAAACGAGTGTGGCTTACCAAACATTTCTCCATTTTTAGCAAATTCAGTGACGATGTAAAGCATGTCCTTTGTTTCCATAACCTAAAGAAGAAAGACCTGACATTTAACCGCACAAAAAAGGCACAAGGCAGCGCTACAAACCATCCACCAGAACCCCAGGAAATTTCTAACTTCTCTAGGACAAAGGCATTCATCATTTAAAAATGCAAAGAAAAAGAAAAATTTCTCAAATAAAAAAAAAATAGGAGATTCCTACTCACAAAGACAGCTTTGAAAAATCAGAGGTGAATTCCTCACTGACTTGCCTATCCTGATACACCTTTGCTCTCACAAAAGGTCTAAATATATTAGAATTCCCCTCTGTGGTCATATTTAATTCAAGACACCTCACATACAATTTGAGAATGCTTAGGCCGGGGCATGGTGGCTCACGCCCTGTAATCCCAGCACTTCGGGAGGCCAAGGCAGGAGAATCGCTTGAGTTCGAGACCAGCCTGGTCAACACGGCAAGACCCCATCTCTACAAAAAATACAAAAACTAGCTAGGTGAGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCATTCGAACCCGCAAGGCGGAGGTTGCAGTGAGCCGAGATCGTACCACTGCACTCCAACTTGGGCGACAGAGCGAGACTCCATCTCAAAAAAGGAGAGACAGTATTCTGAAGGCTACAGAGGAGGAGATTGCTGGAAGTCTGCTGGGCTTTATAGAAGCCTAGTAGGCAACAGATGATTCCAGCCAACGGTCAGAGCCACCTGGGTAATAGAGAATGCACACCCCATTCCCACTCGCTTGATTGACAGGATGAATGACGCTGTGGGAACCCAGCTTTATTGACAGGATGAATGAGGCTGTGAGAATCCAGCCTCATTCACTCAGCATGTAGCCATTCACTCAGCATGTAGCCACACAACAGCCATGCCAACATAGCCCTTTGAAGTTCATTCACTAATCAATAACTTTATTTTACTTAAAAAGAGATTTAAAAATATAACTTATGTCTGTGAGTATTGAAAAATTTTGGAGAGGATGAGGCAATATATTCTTATGAAAAAAGATTTTTTTGGGTTCAAAATATAGTTATTCCTTTAAAAAGATGCTTTGTGCTGGAGGTGGTGGCTCATGCTTGTAATCCCAGTACTTTGGGATCACCCAGGCTGATCACTTGAGGTTAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGTCACGATCCATAGCGCCACTGCACTCCAGCCTGGGCGACAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGATGCTTCAAAGATTGCTGCTTTGAGTTATAAATCTAAAAAGAAAAGTGTTCTATAAATTCTAGCAGTTTGGCAAGAATTTTAACTGCCCCGCCCCTGTGGGTGGTACAATAACTCTAAGACCACTGCTGACCCGTCCCCAACTGAAGAAAGGGAGGAGGAGGAAAAGAATTAAAAGTCAAAGTGTTTGAACTTTTTGAAAACTTGAAAAAAAGAGGGAAGTGTCTCAGCAGGGTTCTGGGGCCCCGGCCAGCGGAATGAAAATTAGACACTAGTGGCCGGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCCAGACTATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGCGGCAGTTGCAGTGAGCCGAAATCGCGCCACTGCACTCCAGCCTGGGTGACGGACAGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAAAGACAGGAAGAAAGAAAGAAAAGAAAGAAAATTAGACATTAGCATCAAAACCAGAGGAGTAAAAGTCATTGCTACACCACTGAATTCTATCATCTCCCAAC
|
GCTGTTTTGCAGTGACTGGGAACAAGAGGAGCAGAGATCAGCATGGGGATGGCGGGGAGCCCCAGGGCCCACCCGATCCCAGGTTATTCTTGGGTGACTGAGAATATCCTTTAGTGGGGTGGACAAGCCGGCCCCTAAATTAGCCTGTGCTCCCGTTTTAACTCAGCTGGTGAGTGCCTGCTTCCCCTGAGACAGCTGCCTAGCCCCTGCGGGTGAGGCCAGGGCAAGTGTGGCCAGGCTCACCTCCACCGTCCTCTGCCGGTCCACGCCCAGGGTCTGCATGATACCCAGCGCCTGCTCATCGTAGTCGCCCAGGTTGGAGGTGTAGCTGTGTGCGGAGAAGGCGGGGCAGGCGGGTCCCGGCAAGCAGGGCTCAGCCCGCATCCACCGGTGCTGCCGGATCTGGGCGATGGTGATGCGCCTGGCGGGGTCCACCACCAGCATGCGGCGGATCAGGCTCTCACAGTCTGTGGAGGGGCCAGGAGGCTGAGCCAGGGCGGCCGGGACCTCGGCTGCGCTCCCACCCACCGCCCCACGTGGTTTGACACGCCAGGGCCCAGGAGCAGGGGCCGGGCCATCGGCTCAGTCCTGCCACCCAAGGGGAGCCATCAGCCAGGGATCCAGACCCTGGGGGCTGCCACACTTTGTGTCCACCACACAGAGAACCACTTAGGTTCACCCTTCTGCCGTGCCCCACACCTGAGCACCAGGTGGACAGGCATCTTTATGACACAGAAAAGCCGGGTGAGCCACAGCCAGTGGGTTGGACTCAGGGATGATGCCAGCACCCTGGGTGCGGGTACTGGGCGGGGACGGCAGGCGCAAGGCACAAGCCTGTGCAGCAAGGGCACCCGTCCACCCTCGAAATAGGGCACTGAGAAGGCATCCATGGGCTGGGTTTCTCCCGCAGCCCACAGTAACCTGGGCCTGATTCCCAGACTCAACAAGGACTCAGAAGCCAGCCACGAAGGGGCTGCAGGAGACACAGGCCCCTGCCCAGGCGAGACCACACGACTCACCTTGAGACATGAAGAAGGGGATGCGGAAGCGGCCCTCCAGCACCCGCTGTCTCAGCGTCGGCAGGTTAGGCCCATCGAAGGGGAGAGAACCGCAGACCAGGACGTACAGCACCACGCCCAGGCTCTGTTGAGGACCACAGAGCCACATCAGCGCCAGGGCGGTGCCCCCGGGAACACGGCGCCCTCGGGGAACGCGGCCTCGGGAAGGGGGTCTGCGCGCACAGGGCTCCTACCCAGATGTCCAGCTGGGGGCCTTCATACTCCTTCCCCTCAAAGACTTCCGGGGCGGCATACGGGGGGCTCCCACACCACGTGGACAGAGGCTCTCCTGACTTGTAGAAATTCCCAAATCCAAAATCTGAGCGGCAAAGAAACAGATGGATGAGGTTAAACGGCAAATGGCAAGGGGCTGCGGTTTCGGCACAGGGGCTGTGGTTTCGGCACATGCCGGGAAGCTGGGGCTGCTTGCGGGCACACTCCCACCCCGGGGCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCGGACCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCAGACCCTCCGTGCCTGCCAGCTTGATGTCCCTGCTCCCACCCCGGACCCTCCGTGCCTGCCAGCTTGATGTCCATGTTGCCATCCAGCAGGAGGTTCTCGGTCTTGAGGTCCCGGTGGACGATGTGATGGTCGTGACAGTACTCCACGGCCGACAGGATTTGCCAGAACTTCTTCCGCGCCTCGTTCTCACTCAGGTGCCCGTTGGAAGTCAAATAATCTGAGGAGCCACAAAACAAAGCTACAGCCCCCAGGGCAAAGCCTGCCCACCACCCATGGAGCCCTGGGGAACACCGCGGGGTCCTGGGATGTGTGGCCCAGACACTGGCCGCGCAAATCCAGACGCGTTCGTGCCATTGGTTTTCAACAGATACTGAAAACGAGTGTGGCTTACCAAACATTTCTCCATTTTTAGCAAATTCAGTGACGATGTAAAGCATGTCCTTTGTTTCCATAACCTAAGAAGAAAGACCTGACATTTAACCGCACAAAAAAGGCACAAGGCAGCGCTACAAACCATCCACCAGAACCCCAGGAAATTTCTAACTTCTCTAGGACAAAGGCATTCATCATTTAAAAATGCAAAGAAAAAGAAAAATTTCTCAAATAAAAAAAAAATAGGAGATTCCTACTCACAAAGACAGCTTTGAAAAATCAGAGGTGAATTCCTCACTGACTTGCCTATCCTGATACACCTTTGCTCTCACAAAAGGTCTAAATATATTAGAATTCCCCTCTGTGGTCATATTTAATTCAAGACACCTCACATACAATTTGAGAATGCTTAGGCCGGGGCATGGTGGCTCACGCCCTGTAATCCCAGCACTTCGGGAGGCCAAGGCAGGAGAATCGCTTGAGTTCGAGACCAGCCTGGTCAACACGGCAAGACCCCATCTCTACAAAAAATACAAAAACTAGCTAGGTGAGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCATTCGAACCCGCAAGGCGGAGGTTGCAGTGAGCCGAGATCGTACCACTGCACTCCAACTTGGGCGACAGAGCGAGACTCCATCTCAAAAAAGGAGAGACAGTATTCTGAAGGCTACAGAGGAGGAGATTGCTGGAAGTCTGCTGGGCTTTATAGAAGCCTAGTAGGCAACAGATGATTCCAGCCAACGGTCAGAGCCACCTGGGTAATAGAGAATGCACACCCCATTCCCACTCGCTTGATTGACAGGATGAATGACGCTGTGGGAACCCAGCTTTATTGACAGGATGAATGAGGCTGTGAGAATCCAGCCTCATTCACTCAGCATGTAGCCATTCACTCAGCATGTAGCCACACAACAGCCATGCCAACATAGCCCTTTGAAGTTCATTCACTAATCAATAACTTTATTTTACTTAAAAAGAGATTTAAAAATATAACTTATGTCTGTGAGTATTGAAAAATTTTGGAGAGGATGAGGCAATATATTCTTATGAAAAAAGATTTTTTTGGGTTCAAAATATAGTTATTCCTTTAAAAAGATGCTTTGTGCTGGAGGTGGTGGCTCATGCTTGTAATCCCAGTACTTTGGGATCACCCAGGCTGATCACTTGAGGTTAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGTCACGATCCATAGCGCCACTGCACTCCAGCCTGGGCGACAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGATGCTTCAAAGATTGCTGCTTTGAGTTATAAATCTAAAAAGAAAAGTGTTCTATAAATTCTAGCAGTTTGGCAAGAATTTTAACTGCCCCGCCCCTGTGGGTGGTACAATAACTCTAAGACCACTGCTGACCCGTCCCCAACTGAAGAAAGGGAGGAGGAGGAAAAGAATTAAAAGTCAAAGTGTTTGAACTTTTTGAAAACTTGAAAAAAAGAGGGAAGTGTCTCAGCAGGGTTCTGGGGCCCCGGCCAGCGGAATGAAAATTAGACACTAGTGGCCGGGCGCGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCCAGACTATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTTGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGCGGCAGTTGCAGTGAGCCGAAATCGCGCCACTGCACTCCAGCCTGGGTGACGGACAGAGACTCCGTCTCAAAAAAGAAAAAAAAAAAAAAGACAGGAAGAAAGAAAGAAAAGAAAGAAAATTAGACATTAGCATCAAAACCAGAGGAGTAAAAGTCATTGCTACACCACTGAATTCTATCATCTCCCAACN
|
benign
| 319,782 |
Variant at chromosome 21, position 43774279, gene CSTB (cystatin B): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Inborn_genetic_diseases', 'Progressive_myoclonic_epilepsy', 'Unverricht-Lundborg_syndrome']
|
ATCTCGGCTCACTGCAACCTCCTCTGCCTCCTGGGTTCAAGCTATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCTGGCTAGTTTTTTGTATTTTATTTTATTTTTTTCAGTAGGGATGGGGTTTCACCATGTTGGTCAGGCTGGTCCCGGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCTGTAATTTTGATCCCTTTGTCAACTTGTATTTAAACCAGACCACAGCATTAATTACATATTTTATTTTCTGTTTTACACTGATATTTCCTGTTTACACACAAGCTTCTAACCCTAAATCCAGCTTCCCCCAACCCAGGTGCCCCATAGGAGTTCCTGGTCACTGCTCCTGCAGACAACCGCTCCCTTCCTGTTGGGGATGGCTCTCCCGCTGCGTGGTCCCCTAAACAGCCCCTCCCCCACCTGCCTTCCGCTGGAAATTCTCAAGTGGGAAATACAACGGGTTTTCCTTTCAATGCAAAACTGCTTGATTCTGTTTTGCATGTTATAAAAGCTTAGTCTCAGAGTTCATGTTAAGAGTGTAGAATACACACAGTCCATGATTCAGTTTTCTTTTTGGTTTTTTTTTGAGATAGGATCTCACTCTGTCACCCACCCAGGCTGGAGTGCAGAGGTACGATCTCGGCTCACTGCACCCACCACCTCCCGAGTCCAAGTGATCCTCCCGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACAACGCCCAGCTAATTTTTTTATTATTAGTAGAGACAGGGTTTCACCATGTGGGTCAGGCTGGCCTAGAACTCCTGACCTCAGAGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGGGATTCTAGGTGTGAGCCACCGCGCCCGGCCTGATTCAGAATTTCCTAACATCACTTTCAAAGCTCTGTGGACTCACTGGTAGATCCCTCCTTAGTCTTCACAGATCCCCCACGATCTGGACAGCCTGAACCCTGCAGCTGCAGTTCTGGCATACGCTGCCGGACGCCTCGGAGGCAAAGCGCAGCTCAGGACACCCTCAGGAACACGTTCACATCATGACCCCGGTGCACAGAGACTTTCACCCCCAGTCTTAGCTCTTATCATGTATGATGCTCCCTCTTCTGTCCTATTTAACATAGAATCACAGTTGGGAAGGCACCGGACCAATTCCATGAATGGGAAGTAATCCCTGTTGAAAACTAGAAGGTGTTTTTAAAAACAGCCACGCTCTCCTAAGATACCTCCCTTTAGAAGCCCACGTGGCTCCATGGGAAGCCTCCCGCACCACAGGGCACTCAGTGAGGCTGCAGGCTATTCTGCACGTGCACGACACTGTGTGGCTGCCTCTCCGTACCAGAGCATAAAGTGCGTGAATGTATCTGAGATCTGGAGCCAGTTATGCTCTGGAATTGGATTTACTCACACTCTTTTATTTTATGGGAGAAACTGAAGCTTGGGGCCAGGACCTAAGAGTCAAAGCACCAACATGTAAAGAGTGGTGGTTAGGAACGCGGGCCGGAGTGGGCAGGTGTGAATCCTGGGTCCACCACCTGCTTGCTGTGTGAGCCAGGCAGTCTCTCCGCCCTCCATGCCCCCGAGGGGAAGGACCTGCCCGGGGTGGTTCAGACGAAGAAAAAAGTCTAAAACAAAGGAGGCAATCTGTAAGGATTTTAAAAATATATCTATTTTGAAAATATTCTGAAAGTAATTAAGATCACCTATTGGGAAGGAAAGAAATCAACACAATGAAATTTAGGAAGAGAAATGCAAAAGCAGCTGCAGAATCCTGCCCCTTCCACCCCAAGGGGCACAGCCCGGAGATGAAGCTTATTTTAGGATCACAAGTGCACGCTCTGGTAGACGGAGGATGACTTTGTCAGTCTTCTGGCTGAAGGGCCTTGTCCAAAGTCAGGATCAGAAATAGGTCAGCTCATCATGCTTGGCTTTGTTGGTCTGGTAGTTAGATAAGGTCAAGGGCTTGTTTTCATGAGGGAGAGATTGGAACACTCGCAGGTGTACGAAGTCCTCGTCGCCGACGTGCACCTGGGAAGAGAGCGGAGTGAGCGAAGCCTCTGATCCCAAGTCACCTTGCTGCGCCCCTCCAGGTCATTAGCAGCCAGCTGAAGACAATCTTGTCTTCTCCTGCATGTGCAGGGGATGCCTCACATCCCACACTTGTTTCCTTGGGGTTCTTAGCTCCCCAGAAGCCCTAGTCCTCCTGAAAGGCCGATGGACACACACAGTAGGATGCTTATCTCAGGGGGCAGCCACAGGGCGCCCCAGCACCTAAGACCACACAGCCCGGGCCTGCACAGGCGGTTTCCTACCAGCACCCGTTCGGGGCAGGCCCTCCTGAGGCCCACACTCTACCTTGATGAAGTAGTTTGTCCCCGCGACCACCTGGCTCTTGAATGACACGGCCTTAAACACAGGGAACTTCTTGTTTTCTTTCTCTTCAAGCTGGGACCTCACCTAGACAGAAGGGACAGAATGAGGATGTCTCAGTGGCTTCTTGGATTCCCTCCTGCTAGAGTAACTTGCACGCATGTGAGCACACACACGATTCTGACACTGGCTCTTCACACAATTGTCTCTTACAACTGAAGGGACATTTAAACTGTCAGCCTAATAATAAAGTAGAAAAAAACAGTTCCAGCTGGGTACGGTGGCTCAAGGATGTAATCCCAGAACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTAGCCAAATGGCAAAACCCCGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGAGCACCTGCAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTTGAACCTGGGAAGCGGAGGTTGCAGTGGGCCGAGATTGTGCCACTGCACTCCACCCTGGGCAAGAGTGAGACTGAGTCTCAAAAACAAAAAAAAAAAACACAGGCCTCAGCATCGCCTGGACCTGTTCTTGCTTGGGGCATCCCGTCGGTCACCAACCATGACAGCGAGGCGGGCCTGGCCTGTGCTCCACCGGAGGGGGCTTCTTGCACAGATGACCTGCTCATTTCAGCCCCTCCAGAATCTTCTGGCAGGCGCAGAGCAACAGGACGTCCATTTTACAGACGAGGAAACCGAGACACAGGGAAGGTTGCCATCTGCAACCCAGCCCGGTTTTTATCTTGTTTTTCTGTGTTTTAACTTTTTATTTAGACTTACAGTTTGAAACAGTGCTAGAATCGGAAGCATGTAAAGAAACCTGTGGACCTTTTATGCAGATACACTTAAGTTTTTAACCCATGTGCCTTATCACTGGGGACCTCTTGCACTCTCTCTCATGATTTTTTTCCCGAACTAGATGAGGATATTGACAAAGATTCTTGCTTGGCCAAACTGTAGTCGGGCTCCTGAAGCGCCTAGGCCACCTGCGCACTTCCTTGTAAAATCCACTTTTAGCAAGAAGCCTGGCTAAGTCAGTTTAGCCAGACCCTTCCCACCCGCTTGCTATCGGATCACCGTGGAGATCGGAGCCGGCTGCTCACCTGCGCCATCGCCGGCGACGCCCGATCACCCTGCCTGCCTGAAACCAGAAGCGCCTCATCCCTGGGGTTTCCTCTCAGAGACTGTCCATGCAGGGACCGCACCCTGCTCCGGGCTATCAATTCCCACTCGCCCTTGCTGTATTCAGCGGAGCCCAATGTCTCCCCAGCGGCGCCCCAGGCGCGGCCCCCCGCTGCTCACTCGCGCGCAGCGCCCGAGCGGAGGGAGGCCTCTCACGGCCACAGCCCGGGCCAGCCCAGGGGTGCGCAGCGGGGCCAAAGCGGCTTCTTTCGCTCCAGGAGCCGCGGCCGCGCCCTGAGGCTAAGGCAGGACTCCGGGCCGGCCCCGTCCCCGCGGCCCACCCACCTGGTCGGCGATGTGCTGGGTCTCGGCGGTGGCCGGCTGCGTGGCGGAGGGCGCCCCGCACATCATCTTGGCGGCGACGGAGGGAATCTGGCGAGGGGACTCGGCGAGGGGACGCGGCGGCTC
|
ATCTCGGCTCACTGCAACCTCCTCTGCCTCCTGGGTTCAAGCTATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCTGGCTAGTTTTTTGTATTTTATTTTATTTTTTTCAGTAGGGATGGGGTTTCACCATGTTGGTCAGGCTGGTCCCGGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCTGTAATTTTGATCCCTTTGTCAACTTGTATTTAAACCAGACCACAGCATTAATTACATATTTTATTTTCTGTTTTACACTGATATTTCCTGTTTACACACAAGCTTCTAACCCTAAATCCAGCTTCCCCCAACCCAGGTGCCCCATAGGAGTTCCTGGTCACTGCTCCTGCAGACAACCGCTCCCTTCCTGTTGGGGATGGCTCTCCCGCTGCGTGGTCCCCTAAACAGCCCCTCCCCCACCTGCCTTCCGCTGGAAATTCTCAAGTGGGAAATACAACGGGTTTTCCTTTCAATGCAAAACTGCTTGATTCTGTTTTGCATGTTATAAAAGCTTAGTCTCAGAGTTCATGTTAAGAGTGTAGAATACACACAGTCCATGATTCAGTTTTCTTTTTGGTTTTTTTTTGAGATAGGATCTCACTCTGTCACCCACCCAGGCTGGAGTGCAGAGGTACGATCTCGGCTCACTGCACCCACCACCTCCCGAGTCCAAGTGATCCTCCCGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACAACGCCCAGCTAATTTTTTTATTATTAGTAGAGACAGGGTTTCACCATGTGGGTCAGGCTGGCCTAGAACTCCTGACCTCAGAGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGGGATTCTAGGTGTGAGCCACCGCGCCCGGCCTGATTCAGAATTTCCTAACATCACTTTCAAAGCTCTGTGGACTCACTGGTAGATCCCTCCTTAGTCTTCACAGATCCCCCACGATCTGGACAGCCTGAACCCTGCAGCTGCAGTTCTGGCATACGCTGCCGGACGCCTCGGAGGCAAAGCGCAGCTCAGGACACCCTCAGGAACACGTTCACATCATGACCCCGGTGCACAGAGACTTTCACCCCCAGTCTTAGCTCTTATCATGTATGATGCTCCCTCTTCTGTCCTATTTAACATAGAATCACAGTTGGGAAGGCACCGGACCAATTCCATGAATGGGAAGTAATCCCTGTTGAAAACTAGAAGGTGTTTTTAAAAACAGCCACGCTCTCCTAAGATACCTCCCTTTAGAAGCCCACGTGGCTCCATGGGAAGCCTCCCGCACCACAGGGCACTCAGTGAGGCTGCAGGCTATTCTGCACGTGCACGACACTGTGTGGCTGCCTCTCCGTACCAGAGCATAAAGTGCGTGAATGTATCTGAGATCTGGAGCCAGTTATGCTCTGGAATTGGATTTACTCACACTCTTTTATTTTATGGGAGAAACTGAAGCTTGGGGCCAGGACCTAAGAGTCAAAGCACCAACATGTAAAGAGTGGTGGTTAGGAACGCGGGCCGGAGTGGGCAGGTGTGAATCCTGGGTCCACCACCTGCTTGCTGTGTGAGCCAGGCAGTCTCTCCGCCCTCCATGCCCCCGAGGGGAAGGACCTGCCCGGGGTGGTTCAGACGAAGAAAAAAGTCTAAAACAAAGGAGGCAATCTGTAAGGATTTTAAAAATATATCTATTTTGAAAATATTCTGAAAGTAATTAAGATCACCTATTGGGAAGGAAAGAAATCAACACAATGAAATTTAGGAAGAGAAATGCAAAAGCAGCTGCAGAATCCTGCCCCTTCCACCCCAAGGGGCACAGCCCGGAGATGAAGCTTATTTTAGGATCACAAGTGCACGCTCTGGTAGACGGAGGATGACTTTGTCAGTCTTCTGGCTGAAGGGCCTTGTCCAAAGTCAGGATCAGAAATAGGTCAGCTCATCATGCTTGGCTTTGTTGGTCTGGTAGTTAGATAAGGTCAAGGGCTTGTTTTCATGAGGGAGATTGGAACACTCGCAGGTGTACGAAGTCCTCGTCGCCGACGTGCACCTGGGAAGAGAGCGGAGTGAGCGAAGCCTCTGATCCCAAGTCACCTTGCTGCGCCCCTCCAGGTCATTAGCAGCCAGCTGAAGACAATCTTGTCTTCTCCTGCATGTGCAGGGGATGCCTCACATCCCACACTTGTTTCCTTGGGGTTCTTAGCTCCCCAGAAGCCCTAGTCCTCCTGAAAGGCCGATGGACACACACAGTAGGATGCTTATCTCAGGGGGCAGCCACAGGGCGCCCCAGCACCTAAGACCACACAGCCCGGGCCTGCACAGGCGGTTTCCTACCAGCACCCGTTCGGGGCAGGCCCTCCTGAGGCCCACACTCTACCTTGATGAAGTAGTTTGTCCCCGCGACCACCTGGCTCTTGAATGACACGGCCTTAAACACAGGGAACTTCTTGTTTTCTTTCTCTTCAAGCTGGGACCTCACCTAGACAGAAGGGACAGAATGAGGATGTCTCAGTGGCTTCTTGGATTCCCTCCTGCTAGAGTAACTTGCACGCATGTGAGCACACACACGATTCTGACACTGGCTCTTCACACAATTGTCTCTTACAACTGAAGGGACATTTAAACTGTCAGCCTAATAATAAAGTAGAAAAAAACAGTTCCAGCTGGGTACGGTGGCTCAAGGATGTAATCCCAGAACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTAGCCAAATGGCAAAACCCCGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGAGCACCTGCAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTTGAACCTGGGAAGCGGAGGTTGCAGTGGGCCGAGATTGTGCCACTGCACTCCACCCTGGGCAAGAGTGAGACTGAGTCTCAAAAACAAAAAAAAAAAACACAGGCCTCAGCATCGCCTGGACCTGTTCTTGCTTGGGGCATCCCGTCGGTCACCAACCATGACAGCGAGGCGGGCCTGGCCTGTGCTCCACCGGAGGGGGCTTCTTGCACAGATGACCTGCTCATTTCAGCCCCTCCAGAATCTTCTGGCAGGCGCAGAGCAACAGGACGTCCATTTTACAGACGAGGAAACCGAGACACAGGGAAGGTTGCCATCTGCAACCCAGCCCGGTTTTTATCTTGTTTTTCTGTGTTTTAACTTTTTATTTAGACTTACAGTTTGAAACAGTGCTAGAATCGGAAGCATGTAAAGAAACCTGTGGACCTTTTATGCAGATACACTTAAGTTTTTAACCCATGTGCCTTATCACTGGGGACCTCTTGCACTCTCTCTCATGATTTTTTTCCCGAACTAGATGAGGATATTGACAAAGATTCTTGCTTGGCCAAACTGTAGTCGGGCTCCTGAAGCGCCTAGGCCACCTGCGCACTTCCTTGTAAAATCCACTTTTAGCAAGAAGCCTGGCTAAGTCAGTTTAGCCAGACCCTTCCCACCCGCTTGCTATCGGATCACCGTGGAGATCGGAGCCGGCTGCTCACCTGCGCCATCGCCGGCGACGCCCGATCACCCTGCCTGCCTGAAACCAGAAGCGCCTCATCCCTGGGGTTTCCTCTCAGAGACTGTCCATGCAGGGACCGCACCCTGCTCCGGGCTATCAATTCCCACTCGCCCTTGCTGTATTCAGCGGAGCCCAATGTCTCCCCAGCGGCGCCCCAGGCGCGGCCCCCCGCTGCTCACTCGCGCGCAGCGCCCGAGCGGAGGGAGGCCTCTCACGGCCACAGCCCGGGCCAGCCCAGGGGTGCGCAGCGGGGCCAAAGCGGCTTCTTTCGCTCCAGGAGCCGCGGCCGCGCCCTGAGGCTAAGGCAGGACTCCGGGCCGGCCCCGTCCCCGCGGCCCACCCACCTGGTCGGCGATGTGCTGGGTCTCGGCGGTGGCCGGCTGCGTGGCGGAGGGCGCCCCGCACATCATCTTGGCGGCGACGGAGGGAATCTGGCGAGGGGACTCGGCGAGGGGACGCGGCGGCTCNN
|
pathogenic
| 319,816 |
Does the variant on chromosome 21 at location 43774680 affecting gene CSTB (cystatin B) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Progressive_myoclonic_epilepsy']
|
TGCAGACAACCGCTCCCTTCCTGTTGGGGATGGCTCTCCCGCTGCGTGGTCCCCTAAACAGCCCCTCCCCCACCTGCCTTCCGCTGGAAATTCTCAAGTGGGAAATACAACGGGTTTTCCTTTCAATGCAAAACTGCTTGATTCTGTTTTGCATGTTATAAAAGCTTAGTCTCAGAGTTCATGTTAAGAGTGTAGAATACACACAGTCCATGATTCAGTTTTCTTTTTGGTTTTTTTTTGAGATAGGATCTCACTCTGTCACCCACCCAGGCTGGAGTGCAGAGGTACGATCTCGGCTCACTGCACCCACCACCTCCCGAGTCCAAGTGATCCTCCCGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACAACGCCCAGCTAATTTTTTTATTATTAGTAGAGACAGGGTTTCACCATGTGGGTCAGGCTGGCCTAGAACTCCTGACCTCAGAGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGGGATTCTAGGTGTGAGCCACCGCGCCCGGCCTGATTCAGAATTTCCTAACATCACTTTCAAAGCTCTGTGGACTCACTGGTAGATCCCTCCTTAGTCTTCACAGATCCCCCACGATCTGGACAGCCTGAACCCTGCAGCTGCAGTTCTGGCATACGCTGCCGGACGCCTCGGAGGCAAAGCGCAGCTCAGGACACCCTCAGGAACACGTTCACATCATGACCCCGGTGCACAGAGACTTTCACCCCCAGTCTTAGCTCTTATCATGTATGATGCTCCCTCTTCTGTCCTATTTAACATAGAATCACAGTTGGGAAGGCACCGGACCAATTCCATGAATGGGAAGTAATCCCTGTTGAAAACTAGAAGGTGTTTTTAAAAACAGCCACGCTCTCCTAAGATACCTCCCTTTAGAAGCCCACGTGGCTCCATGGGAAGCCTCCCGCACCACAGGGCACTCAGTGAGGCTGCAGGCTATTCTGCACGTGCACGACACTGTGTGGCTGCCTCTCCGTACCAGAGCATAAAGTGCGTGAATGTATCTGAGATCTGGAGCCAGTTATGCTCTGGAATTGGATTTACTCACACTCTTTTATTTTATGGGAGAAACTGAAGCTTGGGGCCAGGACCTAAGAGTCAAAGCACCAACATGTAAAGAGTGGTGGTTAGGAACGCGGGCCGGAGTGGGCAGGTGTGAATCCTGGGTCCACCACCTGCTTGCTGTGTGAGCCAGGCAGTCTCTCCGCCCTCCATGCCCCCGAGGGGAAGGACCTGCCCGGGGTGGTTCAGACGAAGAAAAAAGTCTAAAACAAAGGAGGCAATCTGTAAGGATTTTAAAAATATATCTATTTTGAAAATATTCTGAAAGTAATTAAGATCACCTATTGGGAAGGAAAGAAATCAACACAATGAAATTTAGGAAGAGAAATGCAAAAGCAGCTGCAGAATCCTGCCCCTTCCACCCCAAGGGGCACAGCCCGGAGATGAAGCTTATTTTAGGATCACAAGTGCACGCTCTGGTAGACGGAGGATGACTTTGTCAGTCTTCTGGCTGAAGGGCCTTGTCCAAAGTCAGGATCAGAAATAGGTCAGCTCATCATGCTTGGCTTTGTTGGTCTGGTAGTTAGATAAGGTCAAGGGCTTGTTTTCATGAGGGAGAGATTGGAACACTCGCAGGTGTACGAAGTCCTCGTCGCCGACGTGCACCTGGGAAGAGAGCGGAGTGAGCGAAGCCTCTGATCCCAAGTCACCTTGCTGCGCCCCTCCAGGTCATTAGCAGCCAGCTGAAGACAATCTTGTCTTCTCCTGCATGTGCAGGGGATGCCTCACATCCCACACTTGTTTCCTTGGGGTTCTTAGCTCCCCAGAAGCCCTAGTCCTCCTGAAAGGCCGATGGACACACACAGTAGGATGCTTATCTCAGGGGGCAGCCACAGGGCGCCCCAGCACCTAAGACCACACAGCCCGGGCCTGCACAGGCGGTTTCCTACCAGCACCCGTTCGGGGCAGGCCCTCCTGAGGCCCACACTCTACCTTGATGAAGTAGTTTGTCCCCGCGACCACCTGGCTCTTGAATGACACGGCCTTAAACACAGGGAACTTCTTGTTTTCTTTCTCTTCAAGCTGGGACCTCACCTAGACAGAAGGGACAGAATGAGGATGTCTCAGTGGCTTCTTGGATTCCCTCCTGCTAGAGTAACTTGCACGCATGTGAGCACACACACGATTCTGACACTGGCTCTTCACACAATTGTCTCTTACAACTGAAGGGACATTTAAACTGTCAGCCTAATAATAAAGTAGAAAAAAACAGTTCCAGCTGGGTACGGTGGCTCAAGGATGTAATCCCAGAACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTAGCCAAATGGCAAAACCCCGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGAGCACCTGCAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTTGAACCTGGGAAGCGGAGGTTGCAGTGGGCCGAGATTGTGCCACTGCACTCCACCCTGGGCAAGAGTGAGACTGAGTCTCAAAAACAAAAAAAAAAAACACAGGCCTCAGCATCGCCTGGACCTGTTCTTGCTTGGGGCATCCCGTCGGTCACCAACCATGACAGCGAGGCGGGCCTGGCCTGTGCTCCACCGGAGGGGGCTTCTTGCACAGATGACCTGCTCATTTCAGCCCCTCCAGAATCTTCTGGCAGGCGCAGAGCAACAGGACGTCCATTTTACAGACGAGGAAACCGAGACACAGGGAAGGTTGCCATCTGCAACCCAGCCCGGTTTTTATCTTGTTTTTCTGTGTTTTAACTTTTTATTTAGACTTACAGTTTGAAACAGTGCTAGAATCGGAAGCATGTAAAGAAACCTGTGGACCTTTTATGCAGATACACTTAAGTTTTTAACCCATGTGCCTTATCACTGGGGACCTCTTGCACTCTCTCTCATGATTTTTTTCCCGAACTAGATGAGGATATTGACAAAGATTCTTGCTTGGCCAAACTGTAGTCGGGCTCCTGAAGCGCCTAGGCCACCTGCGCACTTCCTTGTAAAATCCACTTTTAGCAAGAAGCCTGGCTAAGTCAGTTTAGCCAGACCCTTCCCACCCGCTTGCTATCGGATCACCGTGGAGATCGGAGCCGGCTGCTCACCTGCGCCATCGCCGGCGACGCCCGATCACCCTGCCTGCCTGAAACCAGAAGCGCCTCATCCCTGGGGTTTCCTCTCAGAGACTGTCCATGCAGGGACCGCACCCTGCTCCGGGCTATCAATTCCCACTCGCCCTTGCTGTATTCAGCGGAGCCCAATGTCTCCCCAGCGGCGCCCCAGGCGCGGCCCCCCGCTGCTCACTCGCGCGCAGCGCCCGAGCGGAGGGAGGCCTCTCACGGCCACAGCCCGGGCCAGCCCAGGGGTGCGCAGCGGGGCCAAAGCGGCTTCTTTCGCTCCAGGAGCCGCGGCCGCGCCCTGAGGCTAAGGCAGGACTCCGGGCCGGCCCCGTCCCCGCGGCCCACCCACCTGGTCGGCGATGTGCTGGGTCTCGGCGGTGGCCGGCTGCGTGGCGGAGGGCGCCCCGCACATCATCTTGGCGGCGACGGAGGGAATCTGGCGAGGGGACTCGGCGAGGGGACGCGGCGGCTCCTCAGCCCAAGTAGGCGCTGGGGTCACGTGACGCGCGGGCGGAACCAAGGGGCGGGGAGGAGGCACTTTGGCTTCGGAGTCCCCTGCGGGGTCGCGGTGGCCCCGCAAGAAGGGACGCGCGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGGAACCTGGCCACCACTCGCCGCAGGCTGGGTCTCCGCGCCCAGCGCTGGTGTCGGGAGGGAGCGCCCCCCTCCCGGGGCTGGTATCGTCTTTCCGGGCGCCGAGTCACACGGACCGGGGCGGGGGCGCGGCCGGGTGTCGCCGGTGGGTTGGGCGCGCAGGGTGGGACGATAGGGAAGGGGCAGTCGGAGTAGGCGCAATCCTGCAGGGTGGCGGGGTCCGGGCCGCGCACGAGGGAGGGCGGGGCGCA
|
TGCAGACAACCGCTCCCTTCCTGTTGGGGATGGCTCTCCCGCTGCGTGGTCCCCTAAACAGCCCCTCCCCCACCTGCCTTCCGCTGGAAATTCTCAAGTGGGAAATACAACGGGTTTTCCTTTCAATGCAAAACTGCTTGATTCTGTTTTGCATGTTATAAAAGCTTAGTCTCAGAGTTCATGTTAAGAGTGTAGAATACACACAGTCCATGATTCAGTTTTCTTTTTGGTTTTTTTTTGAGATAGGATCTCACTCTGTCACCCACCCAGGCTGGAGTGCAGAGGTACGATCTCGGCTCACTGCACCCACCACCTCCCGAGTCCAAGTGATCCTCCCGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACAACGCCCAGCTAATTTTTTTATTATTAGTAGAGACAGGGTTTCACCATGTGGGTCAGGCTGGCCTAGAACTCCTGACCTCAGAGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGGGATTCTAGGTGTGAGCCACCGCGCCCGGCCTGATTCAGAATTTCCTAACATCACTTTCAAAGCTCTGTGGACTCACTGGTAGATCCCTCCTTAGTCTTCACAGATCCCCCACGATCTGGACAGCCTGAACCCTGCAGCTGCAGTTCTGGCATACGCTGCCGGACGCCTCGGAGGCAAAGCGCAGCTCAGGACACCCTCAGGAACACGTTCACATCATGACCCCGGTGCACAGAGACTTTCACCCCCAGTCTTAGCTCTTATCATGTATGATGCTCCCTCTTCTGTCCTATTTAACATAGAATCACAGTTGGGAAGGCACCGGACCAATTCCATGAATGGGAAGTAATCCCTGTTGAAAACTAGAAGGTGTTTTTAAAAACAGCCACGCTCTCCTAAGATACCTCCCTTTAGAAGCCCACGTGGCTCCATGGGAAGCCTCCCGCACCACAGGGCACTCAGTGAGGCTGCAGGCTATTCTGCACGTGCACGACACTGTGTGGCTGCCTCTCCGTACCAGAGCATAAAGTGCGTGAATGTATCTGAGATCTGGAGCCAGTTATGCTCTGGAATTGGATTTACTCACACTCTTTTATTTTATGGGAGAAACTGAAGCTTGGGGCCAGGACCTAAGAGTCAAAGCACCAACATGTAAAGAGTGGTGGTTAGGAACGCGGGCCGGAGTGGGCAGGTGTGAATCCTGGGTCCACCACCTGCTTGCTGTGTGAGCCAGGCAGTCTCTCCGCCCTCCATGCCCCCGAGGGGAAGGACCTGCCCGGGGTGGTTCAGACGAAGAAAAAAGTCTAAAACAAAGGAGGCAATCTGTAAGGATTTTAAAAATATATCTATTTTGAAAATATTCTGAAAGTAATTAAGATCACCTATTGGGAAGGAAAGAAATCAACACAATGAAATTTAGGAAGAGAAATGCAAAAGCAGCTGCAGAATCCTGCCCCTTCCACCCCAAGGGGCACAGCCCGGAGATGAAGCTTATTTTAGGATCACAAGTGCACGCTCTGGTAGACGGAGGATGACTTTGTCAGTCTTCTGGCTGAAGGGCCTTGTCCAAAGTCAGGATCAGAAATAGGTCAGCTCATCATGCTTGGCTTTGTTGGTCTGGTAGTTAGATAAGGTCAAGGGCTTGTTTTCATGAGGGAGAGATTGGAACACTCGCAGGTGTACGAAGTCCTCGTCGCCGACGTGCACCTGGGAAGAGAGCGGAGTGAGCGAAGCCTCTGATCCCAAGTCACCTTGCTGCGCCCCTCCAGGTCATTAGCAGCCAGCTGAAGACAATCTTGTCTTCTCCTGCATGTGCAGGGGATGCCTCACATCCCACACTTGTTTCCTTGGGGTTCTTAGCTCCCCAGAAGCCCTAGTCCTCCTGAAAGGCCGATGGACACACACAGTAGGATGCTTATCTCAGGGGGCAGCCACAGGGCGCCCCAGCACCTAAGACCACACAGCCCGGGCCTGCACAGGCGGTTTCCTACCAGCACCCGTTCGGGGCAGGCCCTCCTGAGGCCCACACTCTACCTTGATGAAGTAGTTTGTCCCCGGACCACCTGGCTCTTGAATGACACGGCCTTAAACACAGGGAACTTCTTGTTTTCTTTCTCTTCAAGCTGGGACCTCACCTAGACAGAAGGGACAGAATGAGGATGTCTCAGTGGCTTCTTGGATTCCCTCCTGCTAGAGTAACTTGCACGCATGTGAGCACACACACGATTCTGACACTGGCTCTTCACACAATTGTCTCTTACAACTGAAGGGACATTTAAACTGTCAGCCTAATAATAAAGTAGAAAAAAACAGTTCCAGCTGGGTACGGTGGCTCAAGGATGTAATCCCAGAACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTAGCCAAATGGCAAAACCCCGTTTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGAGCACCTGCAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCCCTTGAACCTGGGAAGCGGAGGTTGCAGTGGGCCGAGATTGTGCCACTGCACTCCACCCTGGGCAAGAGTGAGACTGAGTCTCAAAAACAAAAAAAAAAAACACAGGCCTCAGCATCGCCTGGACCTGTTCTTGCTTGGGGCATCCCGTCGGTCACCAACCATGACAGCGAGGCGGGCCTGGCCTGTGCTCCACCGGAGGGGGCTTCTTGCACAGATGACCTGCTCATTTCAGCCCCTCCAGAATCTTCTGGCAGGCGCAGAGCAACAGGACGTCCATTTTACAGACGAGGAAACCGAGACACAGGGAAGGTTGCCATCTGCAACCCAGCCCGGTTTTTATCTTGTTTTTCTGTGTTTTAACTTTTTATTTAGACTTACAGTTTGAAACAGTGCTAGAATCGGAAGCATGTAAAGAAACCTGTGGACCTTTTATGCAGATACACTTAAGTTTTTAACCCATGTGCCTTATCACTGGGGACCTCTTGCACTCTCTCTCATGATTTTTTTCCCGAACTAGATGAGGATATTGACAAAGATTCTTGCTTGGCCAAACTGTAGTCGGGCTCCTGAAGCGCCTAGGCCACCTGCGCACTTCCTTGTAAAATCCACTTTTAGCAAGAAGCCTGGCTAAGTCAGTTTAGCCAGACCCTTCCCACCCGCTTGCTATCGGATCACCGTGGAGATCGGAGCCGGCTGCTCACCTGCGCCATCGCCGGCGACGCCCGATCACCCTGCCTGCCTGAAACCAGAAGCGCCTCATCCCTGGGGTTTCCTCTCAGAGACTGTCCATGCAGGGACCGCACCCTGCTCCGGGCTATCAATTCCCACTCGCCCTTGCTGTATTCAGCGGAGCCCAATGTCTCCCCAGCGGCGCCCCAGGCGCGGCCCCCCGCTGCTCACTCGCGCGCAGCGCCCGAGCGGAGGGAGGCCTCTCACGGCCACAGCCCGGGCCAGCCCAGGGGTGCGCAGCGGGGCCAAAGCGGCTTCTTTCGCTCCAGGAGCCGCGGCCGCGCCCTGAGGCTAAGGCAGGACTCCGGGCCGGCCCCGTCCCCGCGGCCCACCCACCTGGTCGGCGATGTGCTGGGTCTCGGCGGTGGCCGGCTGCGTGGCGGAGGGCGCCCCGCACATCATCTTGGCGGCGACGGAGGGAATCTGGCGAGGGGACTCGGCGAGGGGACGCGGCGGCTCCTCAGCCCAAGTAGGCGCTGGGGTCACGTGACGCGCGGGCGGAACCAAGGGGCGGGGAGGAGGCACTTTGGCTTCGGAGTCCCCTGCGGGGTCGCGGTGGCCCCGCAAGAAGGGACGCGCGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGGAACCTGGCCACCACTCGCCGCAGGCTGGGTCTCCGCGCCCAGCGCTGGTGTCGGGAGGGAGCGCCCCCCTCCCGGGGCTGGTATCGTCTTTCCGGGCGCCGAGTCACACGGACCGGGGCGGGGGCGCGGCCGGGTGTCGCCGGTGGGTTGGGCGCGCAGGGTGGGACGATAGGGAAGGGGCAGTCGGAGTAGGCGCAATCCTGCAGGGTGGCGGGGTCCGGGCCGCGCACGAGGGAGGGCGGGGCGCAN
|
pathogenic
| 319,822 |
The mutation in gene ICOSLG (inducible T cell costimulator ligand) at chromosome 21, position 44230041—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
CTCCGAGGAGCCTGGCGCTGGGGTCGGAGGTCTTCATCAGGACCCTGGGGACCCTCAGGGTTGAGTGGGGTGGGGCTGCTGAGGGTGGTGGGGGCCGGGGGAGCCACCTCTCACTTTGGGGATCATTGCTGAGGTGAGAAGGGGGACTGTGGCCACCAGGTGATACCCTCTCCATGCACCTAACTGCTGCTCAGGACTCTGGGGACCGTGTTGCCAGGCCTGCGCCTGCTGGACATGGGCGTCTCCAGCCCTGCTGGGCTGTGTCTTTCTCGCTGCAGAGCCAAGAGCCCCGGCAGCCCCTGTAGCCAAACACGGCCCTGGCACAGCCTTTCTTCTGGCAAACTCCACCCGTGCGTCTTCCAAAGGTGGCTCAACTTTTCACCGGAACAGCCGAGGGACATTGTTCCTCCCAGGGAATGTGGCAGAGGACACTGAAGCCCAGTGGGGACTTCCGGGGGCTCCTCGGTGTGGACGGCTAACTACACTTGTGGGCACACACATGAGTGGGTCCTGTGGCTTCCGGGCGGGAGGCAGGTTGGGAGCGTTCAGGGCAGAAGAGCTCCTGTGACCGTGTCCCCTGCAAACAGCCTCGCGTGACCCCAGCAGCACAGAGGCCGTCCTGGAAGAGCGGACGCCCAGTCTTCTTTTTAAACCAAACACCCTTCGGTCTCAGGATCCCGCATCCCACGGGAAGACCCACAGTGGGTCTGGGGTACTGGGAAGAGCCTGGTGCTGAATCCCGCACGCTCCGGGTAGAGACAGCCCATCACCAGTCCCTTCCTGTGGGTGACTGGCAGTGACAGCGGGGAGCCCACTCACTTGGGGACATTTGCCTTTGGTGTGGATGACGCTTTTGAAAGGGCCTCATTCCAGGATCACAGCCAACGCCAGCAGGTTCTCCCTGGGATCCAGCAGTGGTCCTTCTGGGGGCTGCCCCAAGTGCTCCCCTGCAGTCTGGGAGTCCATGCTCAAGCTGCCACCTGGCCTCTCACGGTGGCGTCTCACGGAAGCCCTGTCCACGCTCTGGGCGGTGAGCTCCGGTCAAACGTGGCCTTGGAAGGGAGATGAAGGAGAGAGAGGAACATGAAGCACCCCTTTCCCTTCTGCAGGCAGACGTCGGTTTTCTCAGGACTCAGCTTGGTGGAAACACAGGGTTTAAAGCTTCGGAAACAGCGGCCTGTTCAGGGAACTTCGACTGGCTCCGACGGGAACAGGCCGGCCGTGTTTTTAGCAAGCTGTGTTCCTGCATCATCTGGATGGGCCGACCTGGCCTTGGAAGTGCGTTTCTGCGGTCGGCCATCAGCTCGCCTGGGTCCACAGGTGACACCACAGCATGGTGGCTGCGCACACCCTGAGCCCACTGTCCCCGGGGAACCCCTTCTCCTGGGCGGCAAACAGGGCTCGGAGGGGATCCTGGCCCATGGCGGGGAGCCCGGCTGGCCTGCCTGCGAAGCCCAGCGCCCCTTGCAGCCAGAGGCACCTGCCAGGTGGGTGACCGTGTGTGGACATTTTTCCCAAATTGGACAGGAATCCACATCTATGTTGCTCCTGGAACTGAGGGGCAAACGAGAGCTGCAGGAGTGGCTGCCACAGAGAGAAGCTGGCGGTGCCCGGACCCACTCCGGACACCCCACAGGGGCTGGGCGCCGGTGCCTGGACCCGCCCTGGACACCCCACGGGGGCTGGGCGCCGGTGCCTGGACCCACTCCGGACACCCCATGGGGGCTGGGCGCCGGTGCCTGGACCCGCCCTGGACACCCTGGTCGGGGCTGGGCACTGGGGAGCGCGGGGGTCTAGCACTCGTCTCTCTGCTTCTGTGCATGTTGGGAAAATCCCATCGCAGTGTGACAAAGTGCACACCAGGATGCCATCCCATGCCAAGGGGAGGCTGCAGGAAATGCCATGCGCACCATCGAGGGCTTCGCTGCGTCTCCAGGAACAACAGTTGTTCAAGGCAAGGGACTTTTGCCTTTTGAAAGTTTTTTGAAACTCTGAAAGACAGCTGGCAGCCAAGCCTCCCCTGGGCCCCCCAGAACCTGCTGCTTCCCACGGCAAACTCACCAGTGAGCTCTGTCTCCGGACTCACAGCCCAGGCACCTGGAGGACAAACCAAAATGGTCAGGGCAGCAGCGATGGGGGGTGTCCCTAAAGCCCCTGGTGTTCCTGAGCTCTCAGCAGCCCCCTAAACACCCTACTTGGAAGTCTCCCCAAGGCTCCCAGCTCCAGGCGGGGAAAACACTCACAGATGAGGGGCTCCCCAGGCCACGTGGCTTTTGAGAAAGATCCTCTTAAAGGGGTACGTGCCTGGGAAGCACTTAAAATGCTGTGACCTGGATCTGGGGCCCTTCTGCGGCCCAGCCAGCAGTGGCATCATGGCCGTGGAAGATGTTTCTGGGATGACTGAGATTGGCCACAAATGGGAAAGCCAGGGGCAGCCCACAGGAGCCGCCCCTACTCCGTGGCCACTGCGCCTGCACTCCATTGACTGCCACCCTTGGGGGGTTCTGGGAAGAGCCCCCCCCGTCATCAGGACCATCACTGCAGCCAACGTTCAGGGCTTCCTGCGCCACTGCGTCCTGCTGCTGTGTCTTACATGGCTGAAACACAGACCTCCGGGCTCTGTCGCGGAGCTGGCCAGAGTCACAGACCCACAGGGCAGGAGTGCTCAAGGCAGCCTCAGCGGCTTCCCTGGAAATGACCACCACCCCGGCCTCTACATGCAGAAGCCACCCTGCCCACCCGACCTGCAGGGCAGACCTCGCAGCGCCCTTCTGGCTTGGCAGTGTCAGGAATGTCAGAGATGCTGGGTTTCAAAACCACTTTGTGGGATAGTTCGGGTTGCTAAGCCTCATGAATATTAGTGCTACCACAACAAAGTTCCTTTGTTTTTTTGGGGGGGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGTAGTGGCGTGATCTCGGCTCACTGCAAGCCCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCATGAGTAGCTGGGACTACAGGCGCCTGCCACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGATCTCGTGATCCACTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTACCACAATAAAGTTTCAAGCTAAATCAGTATCAGTGAGGGAAGTTAAAGCAGGCAAACATTCACACCAACAGGACAAACACTAACATCCACAATATGGGGCCGTCTCTACCTGCATAGCTGTGTTGGAGGCATCGGTCCCTGCACACCCAGCCTATGGCCACCGCCACGACCACAAGCAGGCACAGGACAGCCAGGATGCTCCACGTGGCCGCGTTTTTCTCGCCGGTACTGACTGGATTCTCTGTGATCTTGTCTCTCTCTCCGATGTCATTTCCTACAAGAAAGAGGAAAATAACCCGACTTAAAGGATCTTAGAGGAAAAGGGTCTTTTTTTTCATCCTTGAGTAGAAAGTGTTGCAAGGAAGTATTTATTCCAGAGAACTTCCCTGACATGATTTTGAGGTTTTAAAAACACCAAACTGATGAGATGAGGGTTTTCTCTTACAGAGGGGCTTCATTTCCTGCAGGGATCTTGTTCCTCCTCGTCCTACCTGGGAGGGGCGATAACCCCAACCACAGCCAGGGGACCATAGGGCTGGGTATGGTGGGAAGCACAGGTTCTTACTGGATTTTTTTTTTCTTTTTTTTTGAGGCAGAGTCTTGCTCTGTTGCCCACGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCATGCCTAGCTAATTTTTTGTATTTTTTTAGTAGAGACGGAGTTTCACCATGTTATCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCATGAGTCACCGCGTCCGGCCCTTACTGGATTTTTAAAAATCAAAGTGAGGTCAGGCACGGTGGCTC
|
CTCCGAGGAGCCTGGCGCTGGGGTCGGAGGTCTTCATCAGGACCCTGGGGACCCTCAGGGTTGAGTGGGGTGGGGCTGCTGAGGGTGGTGGGGGCCGGGGGAGCCACCTCTCACTTTGGGGATCATTGCTGAGGTGAGAAGGGGGACTGTGGCCACCAGGTGATACCCTCTCCATGCACCTAACTGCTGCTCAGGACTCTGGGGACCGTGTTGCCAGGCCTGCGCCTGCTGGACATGGGCGTCTCCAGCCCTGCTGGGCTGTGTCTTTCTCGCTGCAGAGCCAAGAGCCCCGGCAGCCCCTGTAGCCAAACACGGCCCTGGCACAGCCTTTCTTCTGGCAAACTCCACCCGTGCGTCTTCCAAAGGTGGCTCAACTTTTCACCGGAACAGCCGAGGGACATTGTTCCTCCCAGGGAATGTGGCAGAGGACACTGAAGCCCAGTGGGGACTTCCGGGGGCTCCTCGGTGTGGACGGCTAACTACACTTGTGGGCACACACATGAGTGGGTCCTGTGGCTTCCGGGCGGGAGGCAGGTTGGGAGCGTTCAGGGCAGAAGAGCTCCTGTGACCGTGTCCCCTGCAAACAGCCTCGCGTGACCCCAGCAGCACAGAGGCCGTCCTGGAAGAGCGGACGCCCAGTCTTCTTTTTAAACCAAACACCCTTCGGTCTCAGGATCCCGCATCCCACGGGAAGACCCACAGTGGGTCTGGGGTACTGGGAAGAGCCTGGTGCTGAATCCCGCACGCTCCGGGTAGAGACAGCCCATCACCAGTCCCTTCCTGTGGGTGACTGGCAGTGACAGCGGGGAGCCCACTCACTTGGGGACATTTGCCTTTGGTGTGGATGACGCTTTTGAAAGGGCCTCATTCCAGGATCACAGCCAACGCCAGCAGGTTCTCCCTGGGATCCAGCAGTGGTCCTTCTGGGGGCTGCCCCAAGTGCTCCCCTGCAGTCTGGGAGTCCATGCTCAAGCTGCCACCTGGCCTCTCACGGTGGCGTCTCACGGAAGCCCTGTCCACGCTCTGGGCGGTGAGCTCCGGTCAAACGTGGCCTTGGAAGGGAGATGAAGGAGAGAGAGGAACATGAAGCACCCCTTTCCCTTCTGCAGGCAGACGTCGGTTTTCTCAGGACTCAGCTTGGTGGAAACACAGGGTTTAAAGCTTCGGAAACAGCGGCCTGTTCAGGGAACTTCGACTGGCTCCGACGGGAACAGGCCGGCCGTGTTTTTAGCAAGCTGTGTTCCTGCATCATCTGGATGGGCCGACCTGGCCTTGGAAGTGCGTTTCTGCGGTCGGCCATCAGCTCGCCTGGGTCCACAGGTGACACCACAGCATGGTGGCTGCGCACACCCTGAGCCCACTGTCCCCGGGGAACCCCTTCTCCTGGGCGGCAAACAGGGCTCGGAGGGGATCCTGGCCCATGGCGGGGAGCCCGGCTGGCCTGCCTGCGAAGCCCAGCGCCCCTTGCAGCCAGAGGCACCTGCCAGGTGGGTGACCGTGTGTGGACATTTTTCCCAAATTGGACAGGAATCCACATCTATGTTGCTCCTGGAACTGAGGGGCAAACGAGAGCTGCAGGAGTGGCTGCCACAGAGAGAAGCTGGCGGTGCCCGGACCCACTCCGGACACCCCACAGGGGCTGGGCGCCGGTGCCTGGACCCGCCCTGGACACCCCACGGGGGCTGGGCGCCGGTGCCTGGACCCACTCCGGACACCCCATGGGGGCTGGGCGCCGGTGCCTGGACCCGCCCTGGACACCCTGGTCGGGGCTGGGCACTGGGGAGCGCGGGGGTCTAGCACTCGTCTCTCTGCTTCTGTGCATGTTGGGAAAATCCCATCGCAGTGTGACAAAGTGCACACCAGGATGCCATCCCATGCCAAGGGGAGGCTGCAGGAAATGCCATGCGCACCATCGAGGGCTTCGCTGCGTCTCCAGGAACAACAGTTGTTCAAGGCAAGGGACTTTTGCCTTTTGAAAGTTTTTTGAAACTCTGAAAGACAGCTGGCAGCCAAGCCTCCCCTGGGCCCCCCAGAACCTGCTGCTTCCCAGGCAAACTCACCAGTGAGCTCTGTCTCCGGACTCACAGCCCAGGCACCTGGAGGACAAACCAAAATGGTCAGGGCAGCAGCGATGGGGGGTGTCCCTAAAGCCCCTGGTGTTCCTGAGCTCTCAGCAGCCCCCTAAACACCCTACTTGGAAGTCTCCCCAAGGCTCCCAGCTCCAGGCGGGGAAAACACTCACAGATGAGGGGCTCCCCAGGCCACGTGGCTTTTGAGAAAGATCCTCTTAAAGGGGTACGTGCCTGGGAAGCACTTAAAATGCTGTGACCTGGATCTGGGGCCCTTCTGCGGCCCAGCCAGCAGTGGCATCATGGCCGTGGAAGATGTTTCTGGGATGACTGAGATTGGCCACAAATGGGAAAGCCAGGGGCAGCCCACAGGAGCCGCCCCTACTCCGTGGCCACTGCGCCTGCACTCCATTGACTGCCACCCTTGGGGGGTTCTGGGAAGAGCCCCCCCCGTCATCAGGACCATCACTGCAGCCAACGTTCAGGGCTTCCTGCGCCACTGCGTCCTGCTGCTGTGTCTTACATGGCTGAAACACAGACCTCCGGGCTCTGTCGCGGAGCTGGCCAGAGTCACAGACCCACAGGGCAGGAGTGCTCAAGGCAGCCTCAGCGGCTTCCCTGGAAATGACCACCACCCCGGCCTCTACATGCAGAAGCCACCCTGCCCACCCGACCTGCAGGGCAGACCTCGCAGCGCCCTTCTGGCTTGGCAGTGTCAGGAATGTCAGAGATGCTGGGTTTCAAAACCACTTTGTGGGATAGTTCGGGTTGCTAAGCCTCATGAATATTAGTGCTACCACAACAAAGTTCCTTTGTTTTTTTGGGGGGGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGTAGTGGCGTGATCTCGGCTCACTGCAAGCCCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCATGAGTAGCTGGGACTACAGGCGCCTGCCACACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGATCTCGTGATCCACTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCTACCACAATAAAGTTTCAAGCTAAATCAGTATCAGTGAGGGAAGTTAAAGCAGGCAAACATTCACACCAACAGGACAAACACTAACATCCACAATATGGGGCCGTCTCTACCTGCATAGCTGTGTTGGAGGCATCGGTCCCTGCACACCCAGCCTATGGCCACCGCCACGACCACAAGCAGGCACAGGACAGCCAGGATGCTCCACGTGGCCGCGTTTTTCTCGCCGGTACTGACTGGATTCTCTGTGATCTTGTCTCTCTCTCCGATGTCATTTCCTACAAGAAAGAGGAAAATAACCCGACTTAAAGGATCTTAGAGGAAAAGGGTCTTTTTTTTCATCCTTGAGTAGAAAGTGTTGCAAGGAAGTATTTATTCCAGAGAACTTCCCTGACATGATTTTGAGGTTTTAAAAACACCAAACTGATGAGATGAGGGTTTTCTCTTACAGAGGGGCTTCATTTCCTGCAGGGATCTTGTTCCTCCTCGTCCTACCTGGGAGGGGCGATAACCCCAACCACAGCCAGGGGACCATAGGGCTGGGTATGGTGGGAAGCACAGGTTCTTACTGGATTTTTTTTTTCTTTTTTTTTGAGGCAGAGTCTTGCTCTGTTGCCCACGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCATGCCTAGCTAATTTTTTGTATTTTTTTAGTAGAGACGGAGTTTCACCATGTTATCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCATGAGTCACCGCGTCCGGCCCTTACTGGATTTTTAAAAATCAAAGTGAGGTCAGGCACGGTGGCTCN
|
benign
| 319,842 |
Clinical impact (benign or pathogenic) of the variant at chromosome 21, location 44286026, gene AIRE (autoimmune regulator): what disease(s) if pathogenic?
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
GGGTGTTTCAGGAGCAGACAGGGATCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGATACTCCACAGCCACCACTGAGATGGACCCCCTCCCCCTCAGCTCCCCATGACGTCCCCAGCACCTGACCCCAGGCTGACCACCTCGGCCACCACCTCTGGCCCCACCTTCCTCCCCAGGTTTGTTCCCAAACACCCCTAGAGTCTTTTCCGGAGCAATCTCAGACGTGCAGAACGCTCAGGGGGACCCTGGGCCTGAAGGCGGTAGGAGAAACCGAGACCGACCCCTGGTCTAGAGGAGAGGTGTCTGCCGCTCTCCATCCTGGACTCTGGCTGCCCAAAAGCAAACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATT
|
GGGTGTTTCAGGAGCAGACAGGGATCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGATACTCCACAGCCACCACTGAGATGGACCCCCTCCCCCTCAGCTCCCCATGACGTCCCCAGCACCTGACCCCAGGCTGACCACCTCGGCCACCACCTCTGGCCCCACCTTCCTCCCCAGGTTTGTTCCCAAACACCCCTAGAGTCTTTTCCGGAGCAATCTCAGACGTGCAGAACGCTCAGGGGGACCCTGGGCCTGAAGGCGGTAGGAGAAACCGAGACCGACCCCTGGTCTAGAGGAGAGGTGTCTGCCGCTCTCCATCCTGGACTCTGGCTGCCCAAAAGCAAACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTC
|
pathogenic
| 319,855 |
Chromosome 21, position 44286119, gene AIRE (autoimmune regulator): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
GAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGATACTCCACAGCCACCACTGAGATGGACCCCCTCCCCCTCAGCTCCCCATGACGTCCCCAGCACCTGACCCCAGGCTGACCACCTCGGCCACCACCTCTGGCCCCACCTTCCTCCCCAGGTTTGTTCCCAAACACCCCTAGAGTCTTTTCCGGAGCAATCTCAGACGTGCAGAACGCTCAGGGGGACCCTGGGCCTGAAGGCGGTAGGAGAAACCGAGACCGACCCCTGGTCTAGAGGAGAGGTGTCTGCCGCTCTCCATCCTGGACTCTGGCTGCCCAAAAGCAAACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCT
|
GAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGATACTCCACAGCCACCACTGAGATGGACCCCCTCCCCCTCAGCTCCCCATGACGTCCCCAGCACCTGACCCCAGGCTGACCACCTCGGCCACCACCTCTGGCCCCACCTTCCTCCCCAGGTTTGTTCCCAAACACCCCTAGAGTCTTTTCCGGAGCAATCTCAGACGTGCAGAACGCTCAGGGGGACCCTGGGCCTGAAGGCGGTAGGAGAAACCGAGACCGACCCCTGGTCTAGAGGAGAGGTGTCTGCCGCTCTCCATCCTGGACTCTGGCTGCCCAAAAGCAAACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTN
|
pathogenic
| 319,863 |
Chromosome 21, position 44286139, gene AIRE (autoimmune regulator): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
GGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGATACTCCACAGCCACCACTGAGATGGACCCCCTCCCCCTCAGCTCCCCATGACGTCCCCAGCACCTGACCCCAGGCTGACCACCTCGGCCACCACCTCTGGCCCCACCTTCCTCCCCAGGTTTGTTCCCAAACACCCCTAGAGTCTTTTCCGGAGCAATCTCAGACGTGCAGAACGCTCAGGGGGACCCTGGGCCTGAAGGCGGTAGGAGAAACCGAGACCGACCCCTGGTCTAGAGGAGAGGTGTCTGCCGCTCTCCATCCTGGACTCTGGCTGCCCAAAAGCAAACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTG
|
GGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGATACTCCACAGCCACCACTGAGATGGACCCCCTCCCCCTCAGCTCCCCATGACGTCCCCAGCACCTGACCCCAGGCTGACCACCTCGGCCACCACCTCTGGCCCCACCTTCCTCCCCAGGTTTGTTCCCAAACACCCCTAGAGTCTTTTCCGGAGCAATCTCAGACGTGCAGAACGCTCAGGGGGACCCTGGGCCTGAAGGCGGTAGGAGAAACCGAGACCGACCCCTGGTCTAGAGGAGAGGTGTCTGCCGCTCTCCATCCTGGACTCTGGCTGCCCAAAAGCAAACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGCTGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGN
|
pathogenic
| 319,864 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 21, position 44286628, gene AIRE (autoimmune regulator). What disease(s) is it linked to if pathogenic?
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
CATCCTGGACTCTGGCTGCCCAAAAGCAAACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGC
|
CATCCTGGACTCTGGCTGCCCAAAAGCAAACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCC
|
pathogenic
| 319,868 |
Is the variant located on chromosome 21 at position 44286683, gene AIRE (autoimmune regulator), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
TTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAGTCACCTCCATCCATGTGCAT
|
TTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAGTCACCTCCATCCATGTGCATN
|
pathogenic
| 319,872 |
Does the genetic variant at chromosome 21, position 44286994, impacting gene AIRE (autoimmune regulator), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
TGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAGTCACCTCCATCCATGTGCATGGGCCCTCCTGGGCCATGGGGTTGCATCCTTAGAAAGTTCTGCCTGTGCTGCTGAGACCCTCCAGGGTATCGGCATTCTTCAACCAGGACAGCCTGTAGCATAGCGTCCTTGCCCCCCATACCCTGGCCAGCCTGCAGCATCCTCGCCCGCCATTCCCTGGCCAGCCGCTGACCCCATGCAATCACCAGTGCCATCTGACCAGGGCACAGCAGGGCCGCTGGTGGCAGACCCACCGTGCCATCGGGGCATTCCATCTCAAGTCCCTGACACGGTGTCTCCTCGGTGCTGGACATGGGCTGGGAACACCAAG
|
TGCACCTGGTCTTGTTTTACTGGGGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAGTCACCTCCATCCATGTGCATGGGCCCTCCTGGGCCATGGGGTTGCATCCTTAGAAAGTTCTGCCTGTGCTGCTGAGACCCTCCAGGGTATCGGCATTCTTCAACCAGGACAGCCTGTAGCATAGCGTCCTTGCCCCCCATACCCTGGCCAGCCTGCAGCATCCTCGCCCGCCATTCCCTGGCCAGCCGCTGACCCCATGCAATCACCAGTGCCATCTGACCAGGGCACAGCAGGGCCGCTGGTGGCAGACCCACCGTGCCATCGGGGCATTCCATCTCAAGTCCCTGACACGGTGTCTCCTCGGTGCTGGACATGGGCTGGGAACACCAAGN
|
pathogenic
| 319,879 |
Mutation at chromosome 21, position 44287017, within AIRE (autoimmune regulator): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
GGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAGTCACCTCCATCCATGTGCATGGGCCCTCCTGGGCCATGGGGTTGCATCCTTAGAAAGTTCTGCCTGTGCTGCTGAGACCCTCCAGGGTATCGGCATTCTTCAACCAGGACAGCCTGTAGCATAGCGTCCTTGCCCCCCATACCCTGGCCAGCCTGCAGCATCCTCGCCCGCCATTCCCTGGCCAGCCGCTGACCCCATGCAATCACCAGTGCCATCTGACCAGGGCACAGCAGGGCCGCTGGTGGCAGACCCACCGTGCCATCGGGGCATTCCATCTCAAGTCCCTGACACGGTGTCTCCTCGGTGCTGGACATGGGCTGGGAACACCAAGCACAGCCAGGGCCCTGGTCTTGC
|
GGGCACTGTCCCCACTCACGTCCACCTGGGACCCTCGGCTCCTGTCCACTGCAGCTCCCCTCCCGGACACCTTCCCAGATGCCCCCGGAAGCTCCTGTCCAGGCCACAGCATCCCTCAGCCTCTGTCACTGGTCCTAGGAAGACCCTTTGGGAGCTCTCACTCAGGGCCACACTCAGGACCCCCGTTGTGGGGCTGGCCGCCTTCCTTCTAAAGCACCTGGAGGAAGGAAGGAGGGGGTCAATGCGAGCCTCAATCCCCAGGCGAGTGTGCCCCTTTTAAAGATGAGGGAACCGAGGCTCAGAGAAGGAAAGGACTTGCCTGGCGTCACACAGCTAGCCTAAGATGGTGAGGTCAGGAGCTCCCTGGCAACACCCAGGCTGCCGTACCGTCTCCTGCATCAGACTGAGCCTCCATCGGGCTCCTCCCACAGCCCCAGGCGGGCCCCTGAGTAGGGGCTCTCAGCTTGTGTGGAGGTCCCCCAGGAACACCACCCCGATCCAGCCTCCATGGAGGCTCTTGCCGGCCACTGGGAGGGGCCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAGTCACCTCCATCCATGTGCATGGGCCCTCCTGGGCCATGGGGTTGCATCCTTAGAAAGTTCTGCCTGTGCTGCTGAGACCCTCCAGGGTATCGGCATTCTTCAACCAGGACAGCCTGTAGCATAGCGTCCTTGCCCCCCATACCCTGGCCAGCCTGCAGCATCCTCGCCCGCCATTCCCTGGCCAGCCGCTGACCCCATGCAATCACCAGTGCCATCTGACCAGGGCACAGCAGGGCCGCTGGTGGCAGACCCACCGTGCCATCGGGGCATTCCATCTCAAGTCCCTGACACGGTGTCTCCTCGGTGCTGGACATGGGCTGGGAACACCAAGCACAGCCAGGGCCCTGGTCTTGCN
|
pathogenic
| 319,880 |
Evaluate if the mutation on chromosome 21 at position 44287554 in AIRE (autoimmune regulator) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
CCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAGTCACCTCCATCCATGTGCATGGGCCCTCCTGGGCCATGGGGTTGCATCCTTAGAAAGTTCTGCCTGTGCTGCTGAGACCCTCCAGGGTATCGGCATTCTTCAACCAGGACAGCCTGTAGCATAGCGTCCTTGCCCCCCATACCCTGGCCAGCCTGCAGCATCCTCGCCCGCCATTCCCTGGCCAGCCGCTGACCCCATGCAATCACCAGTGCCATCTGACCAGGGCACAGCAGGGCCGCTGGTGGCAGACCCACCGTGCCATCGGGGCATTCCATCTCAAGTCCCTGACACGGTGTCTCCTCGGTGCTGGACATGGGCTGGGAACACCAAGCACAGCCAGGGCCCTGGTCTTGCACCTCTGGATGGTCCCAAGGCCCACTGTGTTACTTCCTAAGGCTGTTGGTTAAATTGGCACAAACTGGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTGAACTTCGGGGGACGCTGTTGAACACCCTGGTGTAGATCCAGGACAATCCCCGGGCCCCAGACTCGACTGGGGTGGGGGCGGGCTGGAGGAATGCAGGCTGTGGGAACTCCACCTGTCTCTGCTAGACCCCACCCTGGGGCCTACACGACTG
|
CCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAGTCACCTCCATCCATGTGCATGGGCCCTCCTGGGCCATGGGGTTGCATCCTTAGAAAGTTCTGCCTGTGCTGCTGAGACCCTCCAGGGTATCGGCATTCTTCAACCAGGACAGCCTGTAGCATAGCGTCCTTGCCCCCCATACCCTGGCCAGCCTGCAGCATCCTCGCCCGCCATTCCCTGGCCAGCCGCTGACCCCATGCAATCACCAGTGCCATCTGACCAGGGCACAGCAGGGCCGCTGGTGGCAGACCCACCGTGCCATCGGGGCATTCCATCTCAAGTCCCTGACACGGTGTCTCCTCGGTGCTGGACATGGGCTGGGAACACCAAGCACAGCCAGGGCCCTGGTCTTGCACCTCTGGATGGTCCCAAGGCCCACTGTGTTACTTCCTAAGGCTGTTGGTTAAATTGGCACAAACTGGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTGAACTTCGGGGGACGCTGTTGAACACCCTGGTGTAGATCCAGGACAATCCCCGGGCCCCAGACTCGACTGGGGTGGGGGCGGGCTGGAGGAATGCAGGCTGTGGGAACTCCACCTGTCTCTGCTAGACCCCACCCTGGG
|
pathogenic
| 319,891 |
Classify the chromosome 21 variant at position 44287554 affecting gene AIRE (autoimmune regulator) as benign or pathogenic. If pathogenic, which disease(s) is associated?
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
CCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAGTCACCTCCATCCATGTGCATGGGCCCTCCTGGGCCATGGGGTTGCATCCTTAGAAAGTTCTGCCTGTGCTGCTGAGACCCTCCAGGGTATCGGCATTCTTCAACCAGGACAGCCTGTAGCATAGCGTCCTTGCCCCCCATACCCTGGCCAGCCTGCAGCATCCTCGCCCGCCATTCCCTGGCCAGCCGCTGACCCCATGCAATCACCAGTGCCATCTGACCAGGGCACAGCAGGGCCGCTGGTGGCAGACCCACCGTGCCATCGGGGCATTCCATCTCAAGTCCCTGACACGGTGTCTCCTCGGTGCTGGACATGGGCTGGGAACACCAAGCACAGCCAGGGCCCTGGTCTTGCACCTCTGGATGGTCCCAAGGCCCACTGTGTTACTTCCTAAGGCTGTTGGTTAAATTGGCACAAACTGGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTGAACTTCGGGGGACGCTGTTGAACACCCTGGTGTAGATCCAGGACAATCCCCGGGCCCCAGACTCGACTGGGGTGGGGGCGGGCTGGAGGAATGCAGGCTGTGGGAACTCCACCTGTCTCTGCTAGACCCCACCCTGGGGCCTACACGACTG
|
CCGGTGCACCCTGGGCAGCCCCTGCCAGGGCCCTGAGACCCGAGCCTCCCCGCCGAGGGCACCTGTCTCGGCTTTGCCCCATTCGAGCAGGGCCCTCGCCGAGGCAGGACAGGGCCACATTCGGAAGTGAGAGTTCTCTGAGTCCCGCACAGAGCGAGTCTCTGTCCCCAGCCCCCAAGGCAGCTGCCCTGGTGGGTGAGTCAGGCCAGGCCCGGAGACTTCCCGAGAGCGAGGGAGGGACAGCAGCGCCTCCATCACAGGGAAGTGTCCCTGCGGGAGGCCCTGGCCCTGATTGGGCGCCGGGGCGGAGCGGCCTTTGCTCTTTGCGTGGTCGCGGGGGTATAACAGCGGCGCGCGTGGCTCGCAGACCGGGGAGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGTGGGCTCCCCGCCCGCCCCCCGCTGCCCCCAGGCCCTGTGAGCCAGGGATAGTCCCCGGGGAAGTTCCAGGAGGACCCCGCCCCTCCAGATCCCCAAGCCCCTCCAGCCTTCCCCAACTCCCTCCCCACAAGGAGCCAGGGGCGTCCCTGATGACAAGTTAGAAGTTGGTCCCCTTCCCCCAGCCGTCCCCACACCTCACCCCCAAGCCAAGGGAATGGCCTCCAGGTTCCCCCAGCCCCACCCTCAACACCCCTACACCACCACCTGACTCCACCACAAGCCGAGGAGATGGGCGTGGAGCTGTCCAGGTCGCCAGCGCCTCTGCCTGGGAGCTCCACCCTCTAGTCATGATGGAGATGGGCAGGCCGCAGGGTGTGGGGGACCATGGCAGGGACCCTCATGCCACCCCACTGCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGGTGGGTCCTGGTGGACTCAGCCATGCTGGGGGCCTGGGGCAGCTGCTGTCACCTGCTCAGCCCAGCTGGACTGGAACCGGAGTGGTGTTTGAGGAGCCCGTGGGTGATGTTCCAGGACCGTCTTGGATCCTAAGAGGCAAAGGGGCCAGGCCTCACCTGTCTGGCCAAGGTGTCCAGTTCTGGGGCCCACCCTACCCCTGGAGAAAACCCTGAGGTTGGGACCCTGCTCCTGCCCCTGAGCTGCAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGTACCCTCCCTGCAGGGGAAGCCAGCCAGGGTCTCCAGTCTTCCCGGGCTTCCCCGGGAGCCCACGCCCCCTCCCCACCCGGGCTCCCACCCACTGGGTGTGGGGCCAGCCTGCCTGGGGCTGTGGGGGTCTCCTCTGGGTACTAGACCCACACACTGGACCAGCCTCTCAGCTCCCTCCTGCCTGAAGGCTGAGCTCCCCGGAGCTGGTGAAGTAGGCGGGCGGGTCTCATTTCCCTTTTACTGATGAGAAACCAGAGCCCGGCAAAGGGACTACCCAGCACTGGACCGCCCCCTCCACGCCCTCCCACCGCGGGCCCCTGCCCACCGGCACTCACCCCCACTGAGAGGGGAGGCCAGGCTGCCCCCAGCTCCCCCATTCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCCTTCCACTCGGGAACGGTGAGCGGGGCCCAGTGGGAGCGCCTCCCTTCTCCCTGGCCAGGGGCAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAGTCACCTCCATCCATGTGCATGGGCCCTCCTGGGCCATGGGGTTGCATCCTTAGAAAGTTCTGCCTGTGCTGCTGAGACCCTCCAGGGTATCGGCATTCTTCAACCAGGACAGCCTGTAGCATAGCGTCCTTGCCCCCCATACCCTGGCCAGCCTGCAGCATCCTCGCCCGCCATTCCCTGGCCAGCCGCTGACCCCATGCAATCACCAGTGCCATCTGACCAGGGCACAGCAGGGCCGCTGGTGGCAGACCCACCGTGCCATCGGGGCATTCCATCTCAAGTCCCTGACACGGTGTCTCCTCGGTGCTGGACATGGGCTGGGAACACCAAGCACAGCCAGGGCCCTGGTCTTGCACCTCTGGATGGTCCCAAGGCCCACTGTGTTACTTCCTAAGGCTGTTGGTTAAATTGGCACAAACTGGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTGAACTTCGGGGGACGCTGTTGAACACCCTGGTGTAGATCCAGGACAATCCCCGGGCCCCAGACTCGACTGGGGTGGGGGCGGGCTGGAGGAATGCAGGCTGTGGGAACTCCACCTGTCTCTGCTAGACCCCACCCTGGGGCCTACACGACTGNNNNNNNNNNNNN
|
pathogenic
| 319,892 |
Evaluate if the mutation on chromosome 21 at position 44289792 in AIRE (autoimmune regulator) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Autoimmune_polyglandular_syndrome_type_1,_with_reversible_metaphyseal_dysplasia', 'Polyglandular_autoimmune_syndrome,_type_1']
|
GACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAGTCACCTCCATCCATGTGCATGGGCCCTCCTGGGCCATGGGGTTGCATCCTTAGAAAGTTCTGCCTGTGCTGCTGAGACCCTCCAGGGTATCGGCATTCTTCAACCAGGACAGCCTGTAGCATAGCGTCCTTGCCCCCCATACCCTGGCCAGCCTGCAGCATCCTCGCCCGCCATTCCCTGGCCAGCCGCTGACCCCATGCAATCACCAGTGCCATCTGACCAGGGCACAGCAGGGCCGCTGGTGGCAGACCCACCGTGCCATCGGGGCATTCCATCTCAAGTCCCTGACACGGTGTCTCCTCGGTGCTGGACATGGGCTGGGAACACCAAGCACAGCCAGGGCCCTGGTCTTGCACCTCTGGATGGTCCCAAGGCCCACTGTGTTACTTCCTAAGGCTGTTGGTTAAATTGGCACAAACTGGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTGAACTTCGGGGGACGCTGTTGAACACCCTGGTGTAGATCCAGGACAATCCCCGGGCCCCAGACTCGACTGGGGTGGGGGCGGGCTGGAGGAATGCAGGCTGTGGGAACTCCACCTGTCTCTGCTAGACCCCACCCTGGGGCCTACACGACTGCCAAGGCAGGTCCTGCTGGGCGGGTGAGCCAGGACCAGCCGGCATCTCCTCCCAGGCGGCTCCAAGAAGTGCATCCAGGTTGGCGGGGAGTTCTACACTCCCAGCAAGTTCGAAGACTCCGGCAGTGGGAAGAACAAGGCCCGCAGCAGCAGTGGCCCGAAGCCTCTGGTTCGAGCCAAGGGAGCCCAGGGCGCTGCCCCCGTAAGCACCTGACCTTCCCTGGGGAGCCTGGCTCTTGATGCCCCCCGCCCCAGGAACAGCGTTGCCTCTGGGGGAGTGGCTCTGCTGGGGGCTGGGGGCTGCTGCCGAGAGACGCCTGGTGCCACAGCCATGTGCACCCTCGCTGCTGAGGCTGCCCCCATTGCTGACGCCCCTCTTCCTTGCAGGGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGTTCCCGCCCCTCTGGCCCTCCCCAGTGACCCCCAGCTCCACCAGGTAATGCCCTAGACCACAGGAGAGGCCCCTGTCTGCCCTTGCTCCCCTCGGGTGGGTCCTGCTGCCTCTGCCTTTACCTGGGCACTCAGGGATGAGCACCGGGGCCTGAGCCCCTACCCACAGGGTACAGCTCTTTTTCTTTAATAGACAGTATTTTTTTCCTGATAATACGCAATGGTAATAGTTTAAATGAGTCAGAGAAAGTGAGGTCTTCTCAGGCTCTTAAGAGCATGGCGTTTGGTCCAGGCTGTACCCGCTGCTCTCAGCTGGGCCCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCAGGCGCTGAGGTCGGGAGAGACCTCCCTGGGCCTGGCCCCACTGCCCTGTGAGGAAGGGTTCATGTGGTTGGTGTACAGTTCCGGGGCCCCTGGAACGCAGCAGCCTGCAAGAAACCGGGTTTTCTTCCCAATAGGGATGGCCCCGGGGGGTGTCTGTTGGAGACCAGATGGATGGGGAACAGGTGGTCAGGGCAGAATTTCAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTC
|
GACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCTTCCCAGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAGTCACCTCCATCCATGTGCATGGGCCCTCCTGGGCCATGGGGTTGCATCCTTAGAAAGTTCTGCCTGTGCTGCTGAGACCCTCCAGGGTATCGGCATTCTTCAACCAGGACAGCCTGTAGCATAGCGTCCTTGCCCCCCATACCCTGGCCAGCCTGCAGCATCCTCGCCCGCCATTCCCTGGCCAGCCGCTGACCCCATGCAATCACCAGTGCCATCTGACCAGGGCACAGCAGGGCCGCTGGTGGCAGACCCACCGTGCCATCGGGGCATTCCATCTCAAGTCCCTGACACGGTGTCTCCTCGGTGCTGGACATGGGCTGGGAACACCAAGCACAGCCAGGGCCCTGGTCTTGCACCTCTGGATGGTCCCAAGGCCCACTGTGTTACTTCCTAAGGCTGTTGGTTAAATTGGCACAAACTGGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTGAACTTCGGGGGACGCTGTTGAACACCCTGGTGTAGATCCAGGACAATCCCCGGGCCCCAGACTCGACTGGGGTGGGGGCGGGCTGGAGGAATGCAGGCTGTGGGAACTCCACCTGTCTCTGCTAGACCCCACCCTGGGGCCTACACGACTGCCAAGGCAGGTCCTGCTGGGCGGGTGAGCCAGGACCAGCCGGCATCTCCTCCCAGGCGGCTCCAAGAAGTGCATCCAGGTTGGCGGGGAGTTCTACACTCCCAGCAAGTTCGAAGACTCCGGCAGTGGGAAGAACAAGGCCCGCAGCAGCAGTGGCCCGAAGCCTCTGGTTCGAGCCAAGGGAGCCCAGGGGCTGCCCCCGTAAGCACCTGACCTTCCCTGGGGAGCCTGGCTCTTGATGCCCCCCGCCCCAGGAACAGCGTTGCCTCTGGGGGAGTGGCTCTGCTGGGGGCTGGGGGCTGCTGCCGAGAGACGCCTGGTGCCACAGCCATGTGCACCCTCGCTGCTGAGGCTGCCCCCATTGCTGACGCCCCTCTTCCTTGCAGGGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGTTCCCGCCCCTCTGGCCCTCCCCAGTGACCCCCAGCTCCACCAGGTAATGCCCTAGACCACAGGAGAGGCCCCTGTCTGCCCTTGCTCCCCTCGGGTGGGTCCTGCTGCCTCTGCCTTTACCTGGGCACTCAGGGATGAGCACCGGGGCCTGAGCCCCTACCCACAGGGTACAGCTCTTTTTCTTTAATAGACAGTATTTTTTTCCTGATAATACGCAATGGTAATAGTTTAAATGAGTCAGAGAAAGTGAGGTCTTCTCAGGCTCTTAAGAGCATGGCGTTTGGTCCAGGCTGTACCCGCTGCTCTCAGCTGGGCCCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCAGGCGCTGAGGTCGGGAGAGACCTCCCTGGGCCTGGCCCCACTGCCCTGTGAGGAAGGGTTCATGTGGTTGGTGTACAGTTCCGGGGCCCCTGGAACGCAGCAGCCTGCAAGAAACCGGGTTTTCTTCCCAATAGGGATGGCCCCGGGGGGTGTCTGTTGGAGACCAGATGGATGGGGAACAGGTGGTCAGGGCAGAATTTCAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCN
|
pathogenic
| 319,909 |
Mutation at chromosome 21, position 44290010, within AIRE (autoimmune regulator): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
AGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAGTCACCTCCATCCATGTGCATGGGCCCTCCTGGGCCATGGGGTTGCATCCTTAGAAAGTTCTGCCTGTGCTGCTGAGACCCTCCAGGGTATCGGCATTCTTCAACCAGGACAGCCTGTAGCATAGCGTCCTTGCCCCCCATACCCTGGCCAGCCTGCAGCATCCTCGCCCGCCATTCCCTGGCCAGCCGCTGACCCCATGCAATCACCAGTGCCATCTGACCAGGGCACAGCAGGGCCGCTGGTGGCAGACCCACCGTGCCATCGGGGCATTCCATCTCAAGTCCCTGACACGGTGTCTCCTCGGTGCTGGACATGGGCTGGGAACACCAAGCACAGCCAGGGCCCTGGTCTTGCACCTCTGGATGGTCCCAAGGCCCACTGTGTTACTTCCTAAGGCTGTTGGTTAAATTGGCACAAACTGGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTGAACTTCGGGGGACGCTGTTGAACACCCTGGTGTAGATCCAGGACAATCCCCGGGCCCCAGACTCGACTGGGGTGGGGGCGGGCTGGAGGAATGCAGGCTGTGGGAACTCCACCTGTCTCTGCTAGACCCCACCCTGGGGCCTACACGACTGCCAAGGCAGGTCCTGCTGGGCGGGTGAGCCAGGACCAGCCGGCATCTCCTCCCAGGCGGCTCCAAGAAGTGCATCCAGGTTGGCGGGGAGTTCTACACTCCCAGCAAGTTCGAAGACTCCGGCAGTGGGAAGAACAAGGCCCGCAGCAGCAGTGGCCCGAAGCCTCTGGTTCGAGCCAAGGGAGCCCAGGGCGCTGCCCCCGTAAGCACCTGACCTTCCCTGGGGAGCCTGGCTCTTGATGCCCCCCGCCCCAGGAACAGCGTTGCCTCTGGGGGAGTGGCTCTGCTGGGGGCTGGGGGCTGCTGCCGAGAGACGCCTGGTGCCACAGCCATGTGCACCCTCGCTGCTGAGGCTGCCCCCATTGCTGACGCCCCTCTTCCTTGCAGGGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGTTCCCGCCCCTCTGGCCCTCCCCAGTGACCCCCAGCTCCACCAGGTAATGCCCTAGACCACAGGAGAGGCCCCTGTCTGCCCTTGCTCCCCTCGGGTGGGTCCTGCTGCCTCTGCCTTTACCTGGGCACTCAGGGATGAGCACCGGGGCCTGAGCCCCTACCCACAGGGTACAGCTCTTTTTCTTTAATAGACAGTATTTTTTTCCTGATAATACGCAATGGTAATAGTTTAAATGAGTCAGAGAAAGTGAGGTCTTCTCAGGCTCTTAAGAGCATGGCGTTTGGTCCAGGCTGTACCCGCTGCTCTCAGCTGGGCCCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCAGGCGCTGAGGTCGGGAGAGACCTCCCTGGGCCTGGCCCCACTGCCCTGTGAGGAAGGGTTCATGTGGTTGGTGTACAGTTCCGGGGCCCCTGGAACGCAGCAGCCTGCAAGAAACCGGGTTTTCTTCCCAATAGGGATGGCCCCGGGGGGTGTCTGTTGGAGACCAGATGGATGGGGAACAGGTGGTCAGGGCAGAATTTCAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATT
|
AGGGCACTGGACTCCAGAGACCCCCTATCTCCCTGAGGGCAGAGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAGTCACCTCCATCCATGTGCATGGGCCCTCCTGGGCCATGGGGTTGCATCCTTAGAAAGTTCTGCCTGTGCTGCTGAGACCCTCCAGGGTATCGGCATTCTTCAACCAGGACAGCCTGTAGCATAGCGTCCTTGCCCCCCATACCCTGGCCAGCCTGCAGCATCCTCGCCCGCCATTCCCTGGCCAGCCGCTGACCCCATGCAATCACCAGTGCCATCTGACCAGGGCACAGCAGGGCCGCTGGTGGCAGACCCACCGTGCCATCGGGGCATTCCATCTCAAGTCCCTGACACGGTGTCTCCTCGGTGCTGGACATGGGCTGGGAACACCAAGCACAGCCAGGGCCCTGGTCTTGCACCTCTGGATGGTCCCAAGGCCCACTGTGTTACTTCCTAAGGCTGTTGGTTAAATTGGCACAAACTGGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTGAACTTCGGGGGACGCTGTTGAACACCCTGGTGTAGATCCAGGACAATCCCCGGGCCCCAGACTCGACTGGGGTGGGGGCGGGCTGGAGGAATGCAGGCTGTGGGAACTCCACCTGTCTCTGCTAGACCCCACCCTGGGGCCTACACGACTGCCAAGGCAGGTCCTGCTGGGCGGGTGAGCCAGGACCAGCCGGCATCTCCTCCCAGGCGGCTCCAAGAAGTGCATCCAGGTTGGCGGGGAGTTCTACACTCCCAGCAAGTTCGAAGACTCCGGCAGTGGGAAGAACAAGGCCCGCAGCAGCAGTGGCCCGAAGCCTCTGGTTCGAGCCAAGGGAGCCCAGGGCGCTGCCCCCGTAAGCACCTGACCTTCCCTGGGGAGCCTGGCTCTTGATGCCCCCCGCCCCAGGAACAGCGTTGCCTCTGGGGGAGTGGCTCTGCTGGGGGCTGGGGGCTGCTGCCGAGAGACGCCTGGTGCCACAGCCATGTGCACCCTCGCTGCTGAGGCTGCCCCCATTGCTGACGCCCCTCTTCCTTGCAGGGTGGAGGTGAGGCTAGGCTGGGCAGCAGGGCAGCGTTCCCGCCCCTCTGGCCCTCCCCAGTGACCCCCAGCTCCACCAGGTAATGCCCTAGACCACAGGAGAGGCCCCTGTCTGCCCTTGCTCCCCTCGGGTGGGTCCTGCTGCCTCTGCCTTTACCTGGGCACTCAGGGATGAGCACCGGGGCCTGAGCCCCTACCCACAGGGTACAGCTCTTTTTCTTTAATAGACAGTATTTTTTTCCTGATAATACGCAATGGTAATAGTTTAAATGAGTCAGAGAAAGTGAGGTCTTCTCAGGCTCTTAAGAGCATGGCGTTTGGTCCAGGCTGTACCCGCTGCTCTCAGCTGGGCCCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCAGGCGCTGAGGTCGGGAGAGACCTCCCTGGGCCTGGCCCCACTGCCCTGTGAGGAAGGGTTCATGTGGTTGGTGTACAGTTCCGGGGCCCCTGGAACGCAGCAGCCTGCAAGAAACCGGGTTTTCTTCCCAATAGGGATGGCCCCGGGGGGTGTCTGTTGGAGACCAGATGGATGGGGAACAGGTGGTCAGGGCAGAATTTCAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTN
|
pathogenic
| 319,915 |
Is the genetic variant on chromosome 21, position 44290052, gene AIRE (autoimmune regulator), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
AGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAGTCACCTCCATCCATGTGCATGGGCCCTCCTGGGCCATGGGGTTGCATCCTTAGAAAGTTCTGCCTGTGCTGCTGAGACCCTCCAGGGTATCGGCATTCTTCAACCAGGACAGCCTGTAGCATAGCGTCCTTGCCCCCCATACCCTGGCCAGCCTGCAGCATCCTCGCCCGCCATTCCCTGGCCAGCCGCTGACCCCATGCAATCACCAGTGCCATCTGACCAGGGCACAGCAGGGCCGCTGGTGGCAGACCCACCGTGCCATCGGGGCATTCCATCTCAAGTCCCTGACACGGTGTCTCCTCGGTGCTGGACATGGGCTGGGAACACCAAGCACAGCCAGGGCCCTGGTCTTGCACCTCTGGATGGTCCCAAGGCCCACTGTGTTACTTCCTAAGGCTGTTGGTTAAATTGGCACAAACTGGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTGAACTTCGGGGGACGCTGTTGAACACCCTGGTGTAGATCCAGGACAATCCCCGGGCCCCAGACTCGACTGGGGTGGGGGCGGGCTGGAGGAATGCAGGCTGTGGGAACTCCACCTGTCTCTGCTAGACCCCACCCTGGGGCCTACACGACTGCCAAGGCAGGTCCTGCTGGGCGGGTGAGCCAGGACCAGCCGGCATCTCCTCCCAGGCGGCTCCAAGAAGTGCATCCAGGTTGGCGGGGAGTTCTACACTCCCAGCAAGTTCGAAGACTCCGGCAGTGGGAAGAACAAGGCCCGCAGCAGCAGTGGCCCGAAGCCTCTGGTTCGAGCCAAGGGAGCCCAGGGCGCTGCCCCCGTAAGCACCTGACCTTCCCTGGGGAGCCTGGCTCTTGATGCCCCCCGCCCCAGGAACAGCGTTGCCTCTGGGGGAGTGGCTCTGCTGGGGGCTGGGGGCTGCTGCCGAGAGACGCCTGGTGCCACAGCCATGTGCACCCTCGCTGCTGAGGCTGCCCCCATTGCTGACGCCCCTCTTCCTTGCAGGGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGTTCCCGCCCCTCTGGCCCTCCCCAGTGACCCCCAGCTCCACCAGGTAATGCCCTAGACCACAGGAGAGGCCCCTGTCTGCCCTTGCTCCCCTCGGGTGGGTCCTGCTGCCTCTGCCTTTACCTGGGCACTCAGGGATGAGCACCGGGGCCTGAGCCCCTACCCACAGGGTACAGCTCTTTTTCTTTAATAGACAGTATTTTTTTCCTGATAATACGCAATGGTAATAGTTTAAATGAGTCAGAGAAAGTGAGGTCTTCTCAGGCTCTTAAGAGCATGGCGTTTGGTCCAGGCTGTACCCGCTGCTCTCAGCTGGGCCCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCAGGCGCTGAGGTCGGGAGAGACCTCCCTGGGCCTGGCCCCACTGCCCTGTGAGGAAGGGTTCATGTGGTTGGTGTACAGTTCCGGGGCCCCTGGAACGCAGCAGCCTGCAAGAAACCGGGTTTTCTTCCCAATAGGGATGGCCCCGGGGGGTGTCTGTTGGAGACCAGATGGATGGGGAACAGGTGGTCAGGGCAGAATTTCAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCAC
|
AGCCTAGGAACTCTGTGTCCCTCCCGGCACAATACAGGGCCCATGTCATGGGGGGGTGGGTCTGGTCATTGGTCATGCCTTCCTATCCATTGTGCCAGCTCTGCTGACACTGCCACCCCCCAGCACACGCACACTTGGGTGCACACACGAACACACACATTCTCATGTCTCTGCACTTACCTGTGGGCTGTCTGCACATGGCAGGGCTGGGTCCCCTCCTTGGCCTGCCCTGGCTGGAAGGAAAGGGCTCTGCAGCCCAGTGCTGCCTGCTTCTGGCATAGAGTATGTGCTTGGGAACAGTCTTCCCCACGGGTGACCCCAATGGGTGTTCCCTTTCCCAGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGTAGACGCTGTGGCGGGGAGATGGGGCTGATGGGGAGACCCAGGCTCCAAGATGGAAGGAGGACCACGCCCCTTTGCATCCTGGTGGTCCCACAGCAGACCGGACTGTTGCTCAGGTAGCCAGAGTTTCTGCCTGTGGTTCTGCTGACTTTGGAGGAGGAGGGTGAGCACTGAAGTCTCCCTGTCGGGGGACCTTCTGCAAGGCCAGCGGTCCAGGCCCACATCCCCACCCGGGATGTACAGCACTCCCCAGTCACCTCCATCCATGTGCATGGGCCCTCCTGGGCCATGGGGTTGCATCCTTAGAAAGTTCTGCCTGTGCTGCTGAGACCCTCCAGGGTATCGGCATTCTTCAACCAGGACAGCCTGTAGCATAGCGTCCTTGCCCCCCATACCCTGGCCAGCCTGCAGCATCCTCGCCCGCCATTCCCTGGCCAGCCGCTGACCCCATGCAATCACCAGTGCCATCTGACCAGGGCACAGCAGGGCCGCTGGTGGCAGACCCACCGTGCCATCGGGGCATTCCATCTCAAGTCCCTGACACGGTGTCTCCTCGGTGCTGGACATGGGCTGGGAACACCAAGCACAGCCAGGGCCCTGGTCTTGCACCTCTGGATGGTCCCAAGGCCCACTGTGTTACTTCCTAAGGCTGTTGGTTAAATTGGCACAAACTGGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTGAACTTCGGGGGACGCTGTTGAACACCCTGGTGTAGATCCAGGACAATCCCCGGGCCCCAGACTCGACTGGGGTGGGGGCGGGCTGGAGGAATGCAGGCTGTGGGAACTCCACCTGTCTCTGCTAGACCCCACCCTGGGGCCTACACGACTGCCAAGGCAGGTCCTGCTGGGCGGGTGAGCCAGGACCAGCCGGCATCTCCTCCCAGGCGGCTCCAAGAAGTGCATCCAGGTTGGCGGGGAGTTCTACACTCCCAGCAAGTTCGAAGACTCCGGCAGTGGGAAGAACAAGGCCCGCAGCAGCAGTGGCCCGAAGCCTCTGGTTCGAGCCAAGGGAGCCCAGGGCGCTGCCCCCGTAAGCACCTGACCTTCCCTGGGGAGCCTGGCTCTTGATGCCCCCCGCCCCAGGAACAGCGTTGCCTCTGGGGGAGTGGCTCTGCTGGGGGCTGGGGGCTGCTGCCGAGAGACGCCTGGTGCCACAGCCATGTGCACCCTCGCTGCTGAGGCTGCCCCCATTGCTGACGCCCCTCTTCCTTGCAGGGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGTTCCCGCCCCTCTGGCCCTCCCCAGTGACCCCAGCTCCACCAGGTAATGCCCTAGACCACAGGAGAGGCCCCTGTCTGCCCTTGCTCCCCTCGGGTGGGTCCTGCTGCCTCTGCCTTTACCTGGGCACTCAGGGATGAGCACCGGGGCCTGAGCCCCTACCCACAGGGTACAGCTCTTTTTCTTTAATAGACAGTATTTTTTTCCTGATAATACGCAATGGTAATAGTTTAAATGAGTCAGAGAAAGTGAGGTCTTCTCAGGCTCTTAAGAGCATGGCGTTTGGTCCAGGCTGTACCCGCTGCTCTCAGCTGGGCCCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCAGGCGCTGAGGTCGGGAGAGACCTCCCTGGGCCTGGCCCCACTGCCCTGTGAGGAAGGGTTCATGTGGTTGGTGTACAGTTCCGGGGCCCCTGGAACGCAGCAGCCTGCAAGAAACCGGGTTTTCTTCCCAATAGGGATGGCCCCGGGGGGTGTCTGTTGGAGACCAGATGGATGGGGAACAGGTGGTCAGGGCAGAATTTCAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACN
|
pathogenic
| 319,917 |
Is the chromosome 21, position 44291145 variant in AIRE (autoimmune regulator) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
CTTCCTAAGGCTGTTGGTTAAATTGGCACAAACTGGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTGAACTTCGGGGGACGCTGTTGAACACCCTGGTGTAGATCCAGGACAATCCCCGGGCCCCAGACTCGACTGGGGTGGGGGCGGGCTGGAGGAATGCAGGCTGTGGGAACTCCACCTGTCTCTGCTAGACCCCACCCTGGGGCCTACACGACTGCCAAGGCAGGTCCTGCTGGGCGGGTGAGCCAGGACCAGCCGGCATCTCCTCCCAGGCGGCTCCAAGAAGTGCATCCAGGTTGGCGGGGAGTTCTACACTCCCAGCAAGTTCGAAGACTCCGGCAGTGGGAAGAACAAGGCCCGCAGCAGCAGTGGCCCGAAGCCTCTGGTTCGAGCCAAGGGAGCCCAGGGCGCTGCCCCCGTAAGCACCTGACCTTCCCTGGGGAGCCTGGCTCTTGATGCCCCCCGCCCCAGGAACAGCGTTGCCTCTGGGGGAGTGGCTCTGCTGGGGGCTGGGGGCTGCTGCCGAGAGACGCCTGGTGCCACAGCCATGTGCACCCTCGCTGCTGAGGCTGCCCCCATTGCTGACGCCCCTCTTCCTTGCAGGGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGTTCCCGCCCCTCTGGCCCTCCCCAGTGACCCCCAGCTCCACCAGGTAATGCCCTAGACCACAGGAGAGGCCCCTGTCTGCCCTTGCTCCCCTCGGGTGGGTCCTGCTGCCTCTGCCTTTACCTGGGCACTCAGGGATGAGCACCGGGGCCTGAGCCCCTACCCACAGGGTACAGCTCTTTTTCTTTAATAGACAGTATTTTTTTCCTGATAATACGCAATGGTAATAGTTTAAATGAGTCAGAGAAAGTGAGGTCTTCTCAGGCTCTTAAGAGCATGGCGTTTGGTCCAGGCTGTACCCGCTGCTCTCAGCTGGGCCCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCAGGCGCTGAGGTCGGGAGAGACCTCCCTGGGCCTGGCCCCACTGCCCTGTGAGGAAGGGTTCATGTGGTTGGTGTACAGTTCCGGGGCCCCTGGAACGCAGCAGCCTGCAAGAAACCGGGTTTTCTTCCCAATAGGGATGGCCCCGGGGGGTGTCTGTTGGAGACCAGATGGATGGGGAACAGGTGGTCAGGGCAGAATTTCAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGG
|
CTTCCTAAGGCTGTTGGTTAAATTGGCACAAACTGGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTGAACTTCGGGGGACGCTGTTGAACACCCTGGTGTAGATCCAGGACAATCCCCGGGCCCCAGACTCGACTGGGGTGGGGGCGGGCTGGAGGAATGCAGGCTGTGGGAACTCCACCTGTCTCTGCTAGACCCCACCCTGGGGCCTACACGACTGCCAAGGCAGGTCCTGCTGGGCGGGTGAGCCAGGACCAGCCGGCATCTCCTCCCAGGCGGCTCCAAGAAGTGCATCCAGGTTGGCGGGGAGTTCTACACTCCCAGCAAGTTCGAAGACTCCGGCAGTGGGAAGAACAAGGCCCGCAGCAGCAGTGGCCCGAAGCCTCTGGTTCGAGCCAAGGGAGCCCAGGGCGCTGCCCCCGTAAGCACCTGACCTTCCCTGGGGAGCCTGGCTCTTGATGCCCCCCGCCCCAGGAACAGCGTTGCCTCTGGGGGAGTGGCTCTGCTGGGGGCTGGGGGCTGCTGCCGAGAGACGCCTGGTGCCACAGCCATGTGCACCCTCGCTGCTGAGGCTGCCCCCATTGCTGACGCCCCTCTTCCTTGCAGGGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGTTCCCGCCCCTCTGGCCCTCCCCAGTGACCCCCAGCTCCACCAGGTAATGCCCTAGACCACAGGAGAGGCCCCTGTCTGCCCTTGCTCCCCTCGGGTGGGTCCTGCTGCCTCTGCCTTTACCTGGGCACTCAGGGATGAGCACCGGGGCCTGAGCCCCTACCCACAGGGTACAGCTCTTTTTCTTTAATAGACAGTATTTTTTTCCTGATAATACGCAATGGTAATAGTTTAAATGAGTCAGAGAAAGTGAGGTCTTCTCAGGCTCTTAAGAGCATGGCGTTTGGTCCAGGCTGTACCCGCTGCTCTCAGCTGGGCCCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCAGGCGCTGAGGTCGGGAGAGACCTCCCTGGGCCTGGCCCCACTGCCCTGTGAGGAAGGGTTCATGTGGTTGGTGTACAGTTCCGGGGCCCCTGGAACGCAGCAGCCTGCAAGAAACCGGGTTTTCTTCCCAATAGGGATGGCCCCGGGGGGTGTCTGTTGGAGACCAGATGGATGGGGAACAGGTGGTCAGGGCAGAATTTCAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGN
|
pathogenic
| 319,925 |
Evaluate if the mutation on chromosome 21 at position 44291171 in AIRE (autoimmune regulator) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
CACAAACTGGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTGAACTTCGGGGGACGCTGTTGAACACCCTGGTGTAGATCCAGGACAATCCCCGGGCCCCAGACTCGACTGGGGTGGGGGCGGGCTGGAGGAATGCAGGCTGTGGGAACTCCACCTGTCTCTGCTAGACCCCACCCTGGGGCCTACACGACTGCCAAGGCAGGTCCTGCTGGGCGGGTGAGCCAGGACCAGCCGGCATCTCCTCCCAGGCGGCTCCAAGAAGTGCATCCAGGTTGGCGGGGAGTTCTACACTCCCAGCAAGTTCGAAGACTCCGGCAGTGGGAAGAACAAGGCCCGCAGCAGCAGTGGCCCGAAGCCTCTGGTTCGAGCCAAGGGAGCCCAGGGCGCTGCCCCCGTAAGCACCTGACCTTCCCTGGGGAGCCTGGCTCTTGATGCCCCCCGCCCCAGGAACAGCGTTGCCTCTGGGGGAGTGGCTCTGCTGGGGGCTGGGGGCTGCTGCCGAGAGACGCCTGGTGCCACAGCCATGTGCACCCTCGCTGCTGAGGCTGCCCCCATTGCTGACGCCCCTCTTCCTTGCAGGGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGTTCCCGCCCCTCTGGCCCTCCCCAGTGACCCCCAGCTCCACCAGGTAATGCCCTAGACCACAGGAGAGGCCCCTGTCTGCCCTTGCTCCCCTCGGGTGGGTCCTGCTGCCTCTGCCTTTACCTGGGCACTCAGGGATGAGCACCGGGGCCTGAGCCCCTACCCACAGGGTACAGCTCTTTTTCTTTAATAGACAGTATTTTTTTCCTGATAATACGCAATGGTAATAGTTTAAATGAGTCAGAGAAAGTGAGGTCTTCTCAGGCTCTTAAGAGCATGGCGTTTGGTCCAGGCTGTACCCGCTGCTCTCAGCTGGGCCCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCAGGCGCTGAGGTCGGGAGAGACCTCCCTGGGCCTGGCCCCACTGCCCTGTGAGGAAGGGTTCATGTGGTTGGTGTACAGTTCCGGGGCCCCTGGAACGCAGCAGCCTGCAAGAAACCGGGTTTTCTTCCCAATAGGGATGGCCCCGGGGGGTGTCTGTTGGAGACCAGATGGATGGGGAACAGGTGGTCAGGGCAGAATTTCAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCC
|
CACAAACTGGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTGAACTTCGGGGGACGCTGTTGAACACCCTGGTGTAGATCCAGGACAATCCCCGGGCCCCAGACTCGACTGGGGTGGGGGCGGGCTGGAGGAATGCAGGCTGTGGGAACTCCACCTGTCTCTGCTAGACCCCACCCTGGGGCCTACACGACTGCCAAGGCAGGTCCTGCTGGGCGGGTGAGCCAGGACCAGCCGGCATCTCCTCCCAGGCGGCTCCAAGAAGTGCATCCAGGTTGGCGGGGAGTTCTACACTCCCAGCAAGTTCGAAGACTCCGGCAGTGGGAAGAACAAGGCCCGCAGCAGCAGTGGCCCGAAGCCTCTGGTTCGAGCCAAGGGAGCCCAGGGCGCTGCCCCCGTAAGCACCTGACCTTCCCTGGGGAGCCTGGCTCTTGATGCCCCCCGCCCCAGGAACAGCGTTGCCTCTGGGGGAGTGGCTCTGCTGGGGGCTGGGGGCTGCTGCCGAGAGACGCCTGGTGCCACAGCCATGTGCACCCTCGCTGCTGAGGCTGCCCCCATTGCTGACGCCCCTCTTCCTTGCAGGGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGTTCCCGCCCCTCTGGCCCTCCCCAGTGACCCCCAGCTCCACCAGGTAATGCCCTAGACCACAGGAGAGGCCCCTGTCTGCCCTTGCTCCCCTCGGGTGGGTCCTGCTGCCTCTGCCTTTACCTGGGCACTCAGGGATGAGCACCGGGGCCTGAGCCCCTACCCACAGGGTACAGCTCTTTTTCTTTAATAGACAGTATTTTTTTCCTGATAATACGCAATGGTAATAGTTTAAATGAGTCAGAGAAAGTGAGGTCTTCTCAGGCTCTTAAGAGCATGGCGTTTGGTCCAGGCTGTACCCGCTGCTCTCAGCTGGGCCCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCAGGCGCTGAGGTCGGGAGAGACCTCCCTGGGCCTGGCCCCACTGCCCTGTGAGGAAGGGTTCATGTGGTTGGTGTACAGTTCCGGGGCCCCTGGAACGCAGCAGCCTGCAAGAAACCGGGTTTTCTTCCCAATAGGGATGGCCCCGGGGGGTGTCTGTTGGAGACCAGATGGATGGGGAACAGGTGGTCAGGGCAGAATTTCAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCN
|
pathogenic
| 319,927 |
Determine whether the variant at chromosome 21, position 44291179, in gene AIRE (autoimmune regulator) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['AIRE-related_disorder', 'Autoimmune_polyglandular_syndrome_type_1,_with_reversible_metaphyseal_dysplasia', 'Polyglandular_autoimmune_syndrome,_type_1']
|
GGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTGAACTTCGGGGGACGCTGTTGAACACCCTGGTGTAGATCCAGGACAATCCCCGGGCCCCAGACTCGACTGGGGTGGGGGCGGGCTGGAGGAATGCAGGCTGTGGGAACTCCACCTGTCTCTGCTAGACCCCACCCTGGGGCCTACACGACTGCCAAGGCAGGTCCTGCTGGGCGGGTGAGCCAGGACCAGCCGGCATCTCCTCCCAGGCGGCTCCAAGAAGTGCATCCAGGTTGGCGGGGAGTTCTACACTCCCAGCAAGTTCGAAGACTCCGGCAGTGGGAAGAACAAGGCCCGCAGCAGCAGTGGCCCGAAGCCTCTGGTTCGAGCCAAGGGAGCCCAGGGCGCTGCCCCCGTAAGCACCTGACCTTCCCTGGGGAGCCTGGCTCTTGATGCCCCCCGCCCCAGGAACAGCGTTGCCTCTGGGGGAGTGGCTCTGCTGGGGGCTGGGGGCTGCTGCCGAGAGACGCCTGGTGCCACAGCCATGTGCACCCTCGCTGCTGAGGCTGCCCCCATTGCTGACGCCCCTCTTCCTTGCAGGGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGTTCCCGCCCCTCTGGCCCTCCCCAGTGACCCCCAGCTCCACCAGGTAATGCCCTAGACCACAGGAGAGGCCCCTGTCTGCCCTTGCTCCCCTCGGGTGGGTCCTGCTGCCTCTGCCTTTACCTGGGCACTCAGGGATGAGCACCGGGGCCTGAGCCCCTACCCACAGGGTACAGCTCTTTTTCTTTAATAGACAGTATTTTTTTCCTGATAATACGCAATGGTAATAGTTTAAATGAGTCAGAGAAAGTGAGGTCTTCTCAGGCTCTTAAGAGCATGGCGTTTGGTCCAGGCTGTACCCGCTGCTCTCAGCTGGGCCCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCAGGCGCTGAGGTCGGGAGAGACCTCCCTGGGCCTGGCCCCACTGCCCTGTGAGGAAGGGTTCATGTGGTTGGTGTACAGTTCCGGGGCCCCTGGAACGCAGCAGCCTGCAAGAAACCGGGTTTTCTTCCCAATAGGGATGGCCCCGGGGGGTGTCTGTTGGAGACCAGATGGATGGGGAACAGGTGGTCAGGGCAGAATTTCAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTA
|
GGGAGGCTTGAAATGACAGAAATGCCAACATCGAGGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTGAACTTCGGGGGACGCTGTTGAACACCCTGGTGTAGATCCAGGACAATCCCCGGGCCCCAGACTCGACTGGGGTGGGGGCGGGCTGGAGGAATGCAGGCTGTGGGAACTCCACCTGTCTCTGCTAGACCCCACCCTGGGGCCTACACGACTGCCAAGGCAGGTCCTGCTGGGCGGGTGAGCCAGGACCAGCCGGCATCTCCTCCCAGGCGGCTCCAAGAAGTGCATCCAGGTTGGCGGGGAGTTCTACACTCCCAGCAAGTTCGAAGACTCCGGCAGTGGGAAGAACAAGGCCCGCAGCAGCAGTGGCCCGAAGCCTCTGGTTCGAGCCAAGGGAGCCCAGGGCGCTGCCCCCGTAAGCACCTGACCTTCCCTGGGGAGCCTGGCTCTTGATGCCCCCCGCCCCAGGAACAGCGTTGCCTCTGGGGGAGTGGCTCTGCTGGGGGCTGGGGGCTGCTGCCGAGAGACGCCTGGTGCCACAGCCATGTGCACCCTCGCTGCTGAGGCTGCCCCCATTGCTGACGCCCCTCTTCCTTGCAGGGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGTTCCCGCCCCTCTGGCCCTCCCCAGTGACCCCCAGCTCCACCAGGTAATGCCCTAGACCACAGGAGAGGCCCCTGTCTGCCCTTGCTCCCCTCGGGTGGGTCCTGCTGCCTCTGCCTTTACCTGGGCACTCAGGGATGAGCACCGGGGCCTGAGCCCCTACCCACAGGGTACAGCTCTTTTTCTTTAATAGACAGTATTTTTTTCCTGATAATACGCAATGGTAATAGTTTAAATGAGTCAGAGAAAGTGAGGTCTTCTCAGGCTCTTAAGAGCATGGCGTTTGGTCCAGGCTGTACCCGCTGCTCTCAGCTGGGCCCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCAGGCGCTGAGGTCGGGAGAGACCTCCCTGGGCCTGGCCCCACTGCCCTGTGAGGAAGGGTTCATGTGGTTGGTGTACAGTTCCGGGGCCCCTGGAACGCAGCAGCCTGCAAGAAACCGGGTTTTCTTCCCAATAGGGATGGCCCCGGGGGGTGTCTGTTGGAGACCAGATGGATGGGGAACAGGTGGTCAGGGCAGAATTTCAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTANNNNNNNNNNNNN
|
pathogenic
| 319,928 |
Does the chromosome 21 mutation at position 44291213 within gene AIRE (autoimmune regulator) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
GGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTGAACTTCGGGGGACGCTGTTGAACACCCTGGTGTAGATCCAGGACAATCCCCGGGCCCCAGACTCGACTGGGGTGGGGGCGGGCTGGAGGAATGCAGGCTGTGGGAACTCCACCTGTCTCTGCTAGACCCCACCCTGGGGCCTACACGACTGCCAAGGCAGGTCCTGCTGGGCGGGTGAGCCAGGACCAGCCGGCATCTCCTCCCAGGCGGCTCCAAGAAGTGCATCCAGGTTGGCGGGGAGTTCTACACTCCCAGCAAGTTCGAAGACTCCGGCAGTGGGAAGAACAAGGCCCGCAGCAGCAGTGGCCCGAAGCCTCTGGTTCGAGCCAAGGGAGCCCAGGGCGCTGCCCCCGTAAGCACCTGACCTTCCCTGGGGAGCCTGGCTCTTGATGCCCCCCGCCCCAGGAACAGCGTTGCCTCTGGGGGAGTGGCTCTGCTGGGGGCTGGGGGCTGCTGCCGAGAGACGCCTGGTGCCACAGCCATGTGCACCCTCGCTGCTGAGGCTGCCCCCATTGCTGACGCCCCTCTTCCTTGCAGGGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGTTCCCGCCCCTCTGGCCCTCCCCAGTGACCCCCAGCTCCACCAGGTAATGCCCTAGACCACAGGAGAGGCCCCTGTCTGCCCTTGCTCCCCTCGGGTGGGTCCTGCTGCCTCTGCCTTTACCTGGGCACTCAGGGATGAGCACCGGGGCCTGAGCCCCTACCCACAGGGTACAGCTCTTTTTCTTTAATAGACAGTATTTTTTTCCTGATAATACGCAATGGTAATAGTTTAAATGAGTCAGAGAAAGTGAGGTCTTCTCAGGCTCTTAAGAGCATGGCGTTTGGTCCAGGCTGTACCCGCTGCTCTCAGCTGGGCCCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCAGGCGCTGAGGTCGGGAGAGACCTCCCTGGGCCTGGCCCCACTGCCCTGTGAGGAAGGGTTCATGTGGTTGGTGTACAGTTCCGGGGCCCCTGGAACGCAGCAGCCTGCAAGAAACCGGGTTTTCTTCCCAATAGGGATGGCCCCGGGGGGTGTCTGTTGGAGACCAGATGGATGGGGAACAGGTGGTCAGGGCAGAATTTCAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGA
|
GGTGTCTCGGGGCCACACTCCCTCTGGAGGCTCCAGGGAAGAATCCTTCCTTGTGTCTCCCAGCTGCTGGTCATTATGGGGGTACCCCTGTGCTCCTTGTTCCTGGGCTCAGGACCCACCGCTCCAGCCTCTGCTTCTGTGGTCTCACAGCTGTCTCCCACGTGTCCTCTTTATAAGGACACCAGTCATTGAACTTATGGTCCAGTGTGACCTCATCTTAACTAATCACATCTACAAAGACCCTGATTTCAAGTAAGGTCACACTCTGAGGTTCTGGGTGGACGTGAACTTCGGGGGACGCTGTTGAACACCCTGGTGTAGATCCAGGACAATCCCCGGGCCCCAGACTCGACTGGGGTGGGGGCGGGCTGGAGGAATGCAGGCTGTGGGAACTCCACCTGTCTCTGCTAGACCCCACCCTGGGGCCTACACGACTGCCAAGGCAGGTCCTGCTGGGCGGGTGAGCCAGGACCAGCCGGCATCTCCTCCCAGGCGGCTCCAAGAAGTGCATCCAGGTTGGCGGGGAGTTCTACACTCCCAGCAAGTTCGAAGACTCCGGCAGTGGGAAGAACAAGGCCCGCAGCAGCAGTGGCCCGAAGCCTCTGGTTCGAGCCAAGGGAGCCCAGGGCGCTGCCCCCGTAAGCACCTGACCTTCCCTGGGGAGCCTGGCTCTTGATGCCCCCCGCCCCAGGAACAGCGTTGCCTCTGGGGGAGTGGCTCTGCTGGGGGCTGGGGGCTGCTGCCGAGAGACGCCTGGTGCCACAGCCATGTGCACCCTCGCTGCTGAGGCTGCCCCCATTGCTGACGCCCCTCTTCCTTGCAGGGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGTTCCCGCCCCTCTGGCCCTCCCCAGTGACCCCCAGCTCCACCAGGTAATGCCCTAGACCACAGGAGAGGCCCCTGTCTGCCCTTGCTCCCCTCGGGTGGGTCCTGCTGCCTCTGCCTTTACCTGGGCACTCAGGGATGAGCACCGGGGCCTGAGCCCCTACCCACAGGGTACAGCTCTTTTTCTTTAATAGACAGTATTTTTTTCCTGATAATACGCAATGGTAATAGTTTAAATGAGTCAGAGAAAGTGAGGTCTTCTCAGGCTCTTAAGAGCATGGCGTTTGGTCCAGGCTGTACCCGCTGCTCTCAGCTGGGCCCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCAGGCGCTGAGGTCGGGAGAGACCTCCCTGGGCCTGGCCCCACTGCCCTGTGAGGAAGGGTTCATGTGGTTGGTGTACAGTTCCGGGGCCCCTGGAACGCAGCAGCCTGCAAGAAACCGGGTTTTCTTCCCAATAGGGATGGCCCCGGGGGGTGTCTGTTGGAGACCAGATGGATGGGGAACAGGTGGTCAGGGCAGAATTTCAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTTATCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGA
|
pathogenic
| 319,931 |
Does the variant on chromosome 21 at location 44292368 affecting gene AIRE (autoimmune regulator) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
ACCCGCTGCTCTCAGCTGGGCCCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCAGGCGCTGAGGTCGGGAGAGACCTCCCTGGGCCTGGCCCCACTGCCCTGTGAGGAAGGGTTCATGTGGTTGGTGTACAGTTCCGGGGCCCCTGGAACGCAGCAGCCTGCAAGAAACCGGGTTTTCTTCCCAATAGGGATGGCCCCGGGGGGTGTCTGTTGGAGACCAGATGGATGGGGAACAGGTGGTCAGGGCAGAATTTCAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGAGGGAGGCCAGGCGAGAAAGGCTCCGGGAGGCACAGGGCCTGGGGCTGTGGGGGGAGCGTGGGGGGCTGCGGGGGGAAGGGGACGCTCCTAGACCTCCACTCCAGCTCCTGGCCCTGGGCATTACTGCTCCCCCCACAAGGCAGGACAATGAAGGGGGGGATGTCCCAGCACACGTGGGAGCCCTCCCCTCCCTGCCTCAATTCCCTTCCCTGCACCCCTGTGGGCACCGCCTTTCAGGAGACTCCCGCACTCAGCCCCAAAGGAGGCCAGGCCCGCCAAGCAGGAGAGAGGTGCGGGCGCCAGGCTTGCAGGCAGCAGCCTGAGGGTGCTTGGGTCGCCCCTGCCTCCTGGGGATGGGACTGGTCCCGCTGTCCTGCAGCCTGCGTGGCACCGTGAGGCTCCTCACTTGCGCCTAGACCCGCCGTCCAGCCCTGGGTGGTCCCAGGGGAGAGCGCACAGGGCTCGGGTTCGGGTTCAGCTACATTTCCCCCGGCCCCCCGCGTCACCCCGCGCTGTTGCCTCCCACAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGTGAGTGAGCGTGGTCGGCGGGGAGGCCTGAACCCACACCCACACCCTACACCCCACCCCACACTCCCCACCCACATCATACAGCCCACAACCACACCCCACCCACACCCCACACTCCCACCCACACCTTGCACCCCACCCCACACCCATGCCCTGCACCCACACCCTACACTCCACAGCCACACTCCACCACACCCCCACCCACACCCTACTCCCCACCTCATACCCTGCACCTCACCACACTCCACAGCCACACCCCACCCCACACCCCACACTCCCACCCACACCCTACACCCACCCCACACCCTACACCCAACCCAAACCCACCCAAACCCACCACTCCCACTCTCCACCCACACCCACACCCCTTCCTCACACCCCACACCCCCATCCCCCACTCACCACCCACGCCCACACCCCACACCCCATACCCCGGAGGTGGCACTCCTGCTCCCCCCCAGGGCTGGCAGCCCCTCATCCTCTGCTGCAGGACGGGCCTGCGCTG
|
ACCCGCTGCTCTCAGCTGGGCCCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCAGGCGCTGAGGTCGGGAGAGACCTCCCTGGGCCTGGCCCCACTGCCCTGTGAGGAAGGGTTCATGTGGTTGGTGTACAGTTCCGGGGCCCCTGGAACGCAGCAGCCTGCAAGAAACCGGGTTTTCTTCCCAATAGGGATGGCCCCGGGGGGTGTCTGTTGGAGACCAGATGGATGGGGAACAGGTGGTCAGGGCAGAATTTCAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGAGGGAGGCCAGGCGAGAAAGGCTCCGGGAGGCACAGGGCCTGGGGCTGTGGGGGGAGCGTGGGGGGCTGCGGGGGGAAGGGGACGCTCCTAGACCTCCACTCCAGCTCCTGGCCCTGGGCATTACTGCTCCCCCCACAAGGCAGGACAATGAAGGGGGGGATGTCCCAGCACACGTGGGAGCCCTCCCCTCCCTGCCTCAATTCCCTTCCCTGCACCCCTGTGGGCACCGCCTTTCAGGAGACTCCCGCACTCAGCCCCAAAGGAGGCCAGGCCCGCCAAGCAGGAGAGAGGTGCGGGCGCCAGGCTTGCAGGCAGCAGCCTGAGGGTGCTTGGGTCGCCCCTGCCTCCTGGGGATGGGACTGGTCCCGCTGTCCTGCAGCCTGCGTGGCACCGTGAGGCTCCTCACTTGCGCCTAGACCCGCCGTCCAGCCCTGGGTGGTCCCAGGGGAGAGCGCACAGGGCTCGGGTTCGGGTTCAGCTACATTTCCCCCGGCCCCCCGCGTCACCCCGCGCTGTTGCCTCCCACAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGTGAGTGAGCGTGGTCGGCGGGGAGGCCTGAACCCACACCCACACCCTACACCCCACCCCACACTCCCCACCCACATCATACAGCCCACAACCACACCCCACCCACACCCCACACTCCCACCCACACCTTGCACCCCACCCCACACCCATGCCCTGCACCCACACCCTACACTCCACAGCCACACTCCACCACACCCCCACCCACACCCTACTCCCCACCTCATACCCTGCACCTCACCACACTCCACAGCCACACCCCACCCCACACCCCACACTCCCACCCACACCCTACACCCACCCCACACCCTACACCCAACCCAAACCCACCCAAACCCACCACTCCCACTCTCCACCCACACCCACACCCCTTCCTCACACCCCACACCCCCATCCCCCACTCACCACCCACGCCCACACCCCACACCCCATACCCCGGAGGTGGCACTCCTGCTCCCCCCCAGGGCTGGCAGCCCCTCATCCTCTGCTGCAGGACGGGCCTGCGCT
|
pathogenic
| 319,935 |
Variant at chromosome 21, position 44292389, gene AIRE (autoimmune regulator): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
CCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCAGGCGCTGAGGTCGGGAGAGACCTCCCTGGGCCTGGCCCCACTGCCCTGTGAGGAAGGGTTCATGTGGTTGGTGTACAGTTCCGGGGCCCCTGGAACGCAGCAGCCTGCAAGAAACCGGGTTTTCTTCCCAATAGGGATGGCCCCGGGGGGTGTCTGTTGGAGACCAGATGGATGGGGAACAGGTGGTCAGGGCAGAATTTCAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGAGGGAGGCCAGGCGAGAAAGGCTCCGGGAGGCACAGGGCCTGGGGCTGTGGGGGGAGCGTGGGGGGCTGCGGGGGGAAGGGGACGCTCCTAGACCTCCACTCCAGCTCCTGGCCCTGGGCATTACTGCTCCCCCCACAAGGCAGGACAATGAAGGGGGGGATGTCCCAGCACACGTGGGAGCCCTCCCCTCCCTGCCTCAATTCCCTTCCCTGCACCCCTGTGGGCACCGCCTTTCAGGAGACTCCCGCACTCAGCCCCAAAGGAGGCCAGGCCCGCCAAGCAGGAGAGAGGTGCGGGCGCCAGGCTTGCAGGCAGCAGCCTGAGGGTGCTTGGGTCGCCCCTGCCTCCTGGGGATGGGACTGGTCCCGCTGTCCTGCAGCCTGCGTGGCACCGTGAGGCTCCTCACTTGCGCCTAGACCCGCCGTCCAGCCCTGGGTGGTCCCAGGGGAGAGCGCACAGGGCTCGGGTTCGGGTTCAGCTACATTTCCCCCGGCCCCCCGCGTCACCCCGCGCTGTTGCCTCCCACAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGTGAGTGAGCGTGGTCGGCGGGGAGGCCTGAACCCACACCCACACCCTACACCCCACCCCACACTCCCCACCCACATCATACAGCCCACAACCACACCCCACCCACACCCCACACTCCCACCCACACCTTGCACCCCACCCCACACCCATGCCCTGCACCCACACCCTACACTCCACAGCCACACTCCACCACACCCCCACCCACACCCTACTCCCCACCTCATACCCTGCACCTCACCACACTCCACAGCCACACCCCACCCCACACCCCACACTCCCACCCACACCCTACACCCACCCCACACCCTACACCCAACCCAAACCCACCCAAACCCACCACTCCCACTCTCCACCCACACCCACACCCCTTCCTCACACCCCACACCCCCATCCCCCACTCACCACCCACGCCCACACCCCACACCCCATACCCCGGAGGTGGCACTCCTGCTCCCCCCCAGGGCTGGCAGCCCCTCATCCTCTGCTGCAGGACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGT
|
CCGTGGGTGGGCCGGGCGCCCCTGCTATAGCCAGGAGGTCAAGGATCCACTGGGAATGCCATGCTCATCTTTCGTCCCCAGCATGGTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCAGGCGCTGAGGTCGGGAGAGACCTCCCTGGGCCTGGCCCCACTGCCCTGTGAGGAAGGGTTCATGTGGTTGGTGTACAGTTCCGGGGCCCCTGGAACGCAGCAGCCTGCAAGAAACCGGGTTTTCTTCCCAATAGGGATGGCCCCGGGGGGTGTCTGTTGGAGACCAGATGGATGGGGAACAGGTGGTCAGGGCAGAATTTCAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGAGGGAGGCCAGGCGAGAAAGGCTCCGGGAGGCACAGGGCCTGGGGCTGTGGGGGGAGCGTGGGGGGCTGCGGGGGGAAGGGGACGCTCCTAGACCTCCACTCCAGCTCCTGGCCCTGGGCATTACTGCTCCCCCCACAAGGCAGGACAATGAAGGGGGGGATGTCCCAGCACACGTGGGAGCCCTCCCCTCCCTGCCTCAATTCCCTTCCCTGCACCCCTGTGGGCACCGCCTTTCAGGAGACTCCCGCACTCAGCCCCAAAGGAGGCCAGGCCCGCCAAGCAGGAGAGAGGTGCGGGCGCCAGGCTTGCAGGCAGCAGCCTGAGGGTGCTTGGGTCGCCCCTGCCTCCTGGGGATGGGACTGGTCCCGCTGTCCTGCAGCCTGCGTGGCACCGTGAGGCTCCTCACTTGCGCCTAGACCCGCCGTCCAGCCCTGGGTGGTCCCAGGGGAGAGCGCACAGGGCTCGGGTTCGGGTTCAGCTACATTTCCCCCGGCCCCCCGCGTCACCCCGCGCTGTTGCCTCCCACAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGTGAGTGAGCGTGGTCGGCGGGGAGGCCTGAACCCACACCCACACCCTACACCCCACCCCACACTCCCCACCCACATCATACAGCCCACAACCACACCCCACCCACACCCCACACTCCCACCCACACCTTGCACCCCACCCCACACCCATGCCCTGCACCCACACCCTACACTCCACAGCCACACTCCACCACACCCCCACCCACACCCTACTCCCCACCTCATACCCTGCACCTCACCACACTCCACAGCCACACCCCACCCCACACCCCACACTCCCACCCACACCCTACACCCACCCCACACCCTACACCCAACCCAAACCCACCCAAACCCACCACTCCCACTCTCCACCCACACCCACACCCCTTCCTCACACCCCACACCCCCATCCCCCACTCACCACCCACGCCCACACCCCACACCCCATACCCCGGAGGTGGCACTCCTGCTCCCCCCCAGGGCTGGCAGCCCCTCATCCTCTGCTGCAGGACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGTN
|
pathogenic
| 319,937 |
For chromosome 21, position 44292474, gene AIRE (autoimmune regulator): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
benign
|
GTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCAGGCGCTGAGGTCGGGAGAGACCTCCCTGGGCCTGGCCCCACTGCCCTGTGAGGAAGGGTTCATGTGGTTGGTGTACAGTTCCGGGGCCCCTGGAACGCAGCAGCCTGCAAGAAACCGGGTTTTCTTCCCAATAGGGATGGCCCCGGGGGGTGTCTGTTGGAGACCAGATGGATGGGGAACAGGTGGTCAGGGCAGAATTTCAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGAGGGAGGCCAGGCGAGAAAGGCTCCGGGAGGCACAGGGCCTGGGGCTGTGGGGGGAGCGTGGGGGGCTGCGGGGGGAAGGGGACGCTCCTAGACCTCCACTCCAGCTCCTGGCCCTGGGCATTACTGCTCCCCCCACAAGGCAGGACAATGAAGGGGGGGATGTCCCAGCACACGTGGGAGCCCTCCCCTCCCTGCCTCAATTCCCTTCCCTGCACCCCTGTGGGCACCGCCTTTCAGGAGACTCCCGCACTCAGCCCCAAAGGAGGCCAGGCCCGCCAAGCAGGAGAGAGGTGCGGGCGCCAGGCTTGCAGGCAGCAGCCTGAGGGTGCTTGGGTCGCCCCTGCCTCCTGGGGATGGGACTGGTCCCGCTGTCCTGCAGCCTGCGTGGCACCGTGAGGCTCCTCACTTGCGCCTAGACCCGCCGTCCAGCCCTGGGTGGTCCCAGGGGAGAGCGCACAGGGCTCGGGTTCGGGTTCAGCTACATTTCCCCCGGCCCCCCGCGTCACCCCGCGCTGTTGCCTCCCACAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGTGAGTGAGCGTGGTCGGCGGGGAGGCCTGAACCCACACCCACACCCTACACCCCACCCCACACTCCCCACCCACATCATACAGCCCACAACCACACCCCACCCACACCCCACACTCCCACCCACACCTTGCACCCCACCCCACACCCATGCCCTGCACCCACACCCTACACTCCACAGCCACACTCCACCACACCCCCACCCACACCCTACTCCCCACCTCATACCCTGCACCTCACCACACTCCACAGCCACACCCCACCCCACACCCCACACTCCCACCCACACCCTACACCCACCCCACACCCTACACCCAACCCAAACCCACCCAAACCCACCACTCCCACTCTCCACCCACACCCACACCCCTTCCTCACACCCCACACCCCCATCCCCCACTCACCACCCACGCCCACACCCCACACCCCATACCCCGGAGGTGGCACTCCTGCTCCCCCCCAGGGCTGGCAGCCCCTCATCCTCTGCTGCAGGACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGTGACCCCAGCCCCTGTGGAGGGGGTGCTGGCCCCCAGCCCCGCCCGCCTGGCCCCTGGGCCTGCCAAGGTCAGTGCCGCAGGGGCC
|
GTTTCTTAATGGGGTAGAAGCAGTGTGGGGGGTGCCTGCCGTGGTGGGTTACAGATCTTGACCACTTGGCACCAGGGGCTCTGTGGGGCCCTGGCACTTAGCAGTGACAGGAGCCAGTCCTGCCCTGCAGGAGCACCCGGGCTGGTGGGCGTCTGGGGGATTGTTAGAATGAGTGAGGTCATTGCCGTGCAGGACCAGCCTAGCCTGGCTGTCTGGGGGGATTCTGGAGGAAGTGGTACCTGGGAGACCCCTGAAGGCACAGCAGGCACCATCCAGGCAGGGCACAAGGACGGTGGGGGCTGCAGGTGGAGGATTCAGCAGGCGCTGAGGTCGGGAGAGACCTCCCTGGGCCTGGCCCCACTGCCCTGTGAGGAAGGGTTCATGTGGTTGGTGTACAGTTCCGGGGCCCCTGGAACGCAGCAGCCTGCAAGAAACCGGGTTTTCTTCCCAATAGGGATGGCCCCGGGGGGTGTCTGTTGGAGACCAGATGGATGGGGAACAGGTGGTCAGGGCAGAATTTCAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGAGGGAGGCCAGGCGAGAAAGGCTCCGGGAGGCACAGGGCCTGGGGCTGTGGGGGGAGCGTGGGGGGCTGCGGGGGGAAGGGGACGCTCCTAGACCTCCACTCCAGCTCCTGGCCCTGGGCATTACTGCTCCCCCCACAAGGCAGGACAATGAAGGGGGGGATGTCCCAGCACACGTGGGAGCCCTCCCCTCCCTGCCTCAATTCCCTTCCCTGCACCCCTGTGGGCACCGCCTTTCAGGAGACTCCCGCACTCAGCCCCAAAGGAGGCCAGGCCCGCCAAGCAGGAGAGAGGTGCGGGCGCCAGGCTTGCAGGCAGCAGCCTGAGGGTGCTTGGGTCGCCCCTGCCTCCTGGGGATGGGACTGGTCCCGCTGTCCTGCAGCCTGCGTGGCACCGTGAGGCTCCTCACTTGCGCCTAGACCCGCCGTCCAGCCCTGGGTGGTCCCAGGGGAGAGCGCACAGGGCTCGGGTTCGGGTTCAGCTACATTTCCCCCGGCCCCCCGCGTCACCCCGCGCTGTTGCCTCCCACAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGTGAGTGAGCGTGGTCGGCGGGGAGGCCTGAACCCACACCCACACCCTACACCCCACCCCACACTCCCCACCCACATCATACAGCCCACAACCACACCCCACCCACACCCCACACTCCCACCCACACCTTGCACCCCACCCCACACCCATGCCCTGCACCCACACCCTACACTCCACAGCCACACTCCACCACACCCCCACCCACACCCTACTCCCCACCTCATACCCTGCACCTCACCACACTCCACAGCCACACCCCACCCCACACCCCACACTCCCACCCACACCCTACACCCACCCCACACCCTACACCCAACCCAAACCCACCCAAACCCACCACTCCCACTCTCCACCCACACCCACACCCCTTCCTCACACCCCACACCCCCATCCCCCACTCACCACCCACGCCCACACCCCACACCCCATACCCCGGAGGTGGCACTCCTGCTCCCCCCCAGGGCTGGCAGCCCCTCATCCTCTGCTGCAGGACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGTGACCCCAGCCCCTGTGGAGGGGGTGCTGGCCCCCAGCCCCGCCCGCCTGGCCCCTGGGCCTGCCAAGGTCAGTGCCGCAGGGGCCN
|
benign
| 319,940 |
Determine whether the variant at chromosome 21, position 44292994, in gene AIRE (autoimmune regulator) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
CAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGAGGGAGGCCAGGCGAGAAAGGCTCCGGGAGGCACAGGGCCTGGGGCTGTGGGGGGAGCGTGGGGGGCTGCGGGGGGAAGGGGACGCTCCTAGACCTCCACTCCAGCTCCTGGCCCTGGGCATTACTGCTCCCCCCACAAGGCAGGACAATGAAGGGGGGGATGTCCCAGCACACGTGGGAGCCCTCCCCTCCCTGCCTCAATTCCCTTCCCTGCACCCCTGTGGGCACCGCCTTTCAGGAGACTCCCGCACTCAGCCCCAAAGGAGGCCAGGCCCGCCAAGCAGGAGAGAGGTGCGGGCGCCAGGCTTGCAGGCAGCAGCCTGAGGGTGCTTGGGTCGCCCCTGCCTCCTGGGGATGGGACTGGTCCCGCTGTCCTGCAGCCTGCGTGGCACCGTGAGGCTCCTCACTTGCGCCTAGACCCGCCGTCCAGCCCTGGGTGGTCCCAGGGGAGAGCGCACAGGGCTCGGGTTCGGGTTCAGCTACATTTCCCCCGGCCCCCCGCGTCACCCCGCGCTGTTGCCTCCCACAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGTGAGTGAGCGTGGTCGGCGGGGAGGCCTGAACCCACACCCACACCCTACACCCCACCCCACACTCCCCACCCACATCATACAGCCCACAACCACACCCCACCCACACCCCACACTCCCACCCACACCTTGCACCCCACCCCACACCCATGCCCTGCACCCACACCCTACACTCCACAGCCACACTCCACCACACCCCCACCCACACCCTACTCCCCACCTCATACCCTGCACCTCACCACACTCCACAGCCACACCCCACCCCACACCCCACACTCCCACCCACACCCTACACCCACCCCACACCCTACACCCAACCCAAACCCACCCAAACCCACCACTCCCACTCTCCACCCACACCCACACCCCTTCCTCACACCCCACACCCCCATCCCCCACTCACCACCCACGCCCACACCCCACACCCCATACCCCGGAGGTGGCACTCCTGCTCCCCCCCAGGGCTGGCAGCCCCTCATCCTCTGCTGCAGGACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGTGACCCCAGCCCCTGTGGAGGGGGTGCTGGCCCCCAGCCCCGCCCGCCTGGCCCCTGGGCCTGCCAAGGTCAGTGCCGCAGGGGCCCTCCATGCATGCCGGTGCTGGGGGTGGGGAACCCCTTGGGTTGGTGTTGGGGGAGCACATCTCAGGGCAGACCCTGGGTGCCAGCTTCGAGGGCTTGCACCAGACGCACTGACCATGTGCTCATTATCTGTAGAAAATATTTCCCCTTTAAACCAATTCTTTTTGGCAACTTAAATATAGTTAAAAAGGAAGCTCCCCCCGAGGGTTGGTGGCTGACGTCACGGTTGGCTGTGTGGCCGCCTCACAGCATGAGCCTGAGAGTCCTGCCAGGGCTCCCTGGTGGGGTGAAGGGAGAGCGGGAGCGCCCGGCCTGCAGGAGCAAACCCCCACCCTGTCTGACCCCTCCAGGTTGTCTCACCCCCAGCCCTCCCTGGGGCCAGGATCCACCCCACTGTGTGGCCAGAGCCCTCTCAGAGAGGCAAAGTGACCCCGGGTCCAGCCAGTAGCTCTTCCTGTCCTCCTGCTCCGGGGTCAGAGAGGACCTGGGTGGCGCGGAGACCCCTGACTGCTGGGGCGGCTG
|
CAGGCCCTGGCAGCATGGGAGCAGGGCAGAGACTGGGGAGTTCAGGTACCCAGAGATGCTGCTGGGGGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGAGGGAGGCCAGGCGAGAAAGGCTCCGGGAGGCACAGGGCCTGGGGCTGTGGGGGGAGCGTGGGGGGCTGCGGGGGGAAGGGGACGCTCCTAGACCTCCACTCCAGCTCCTGGCCCTGGGCATTACTGCTCCCCCCACAAGGCAGGACAATGAAGGGGGGGATGTCCCAGCACACGTGGGAGCCCTCCCCTCCCTGCCTCAATTCCCTTCCCTGCACCCCTGTGGGCACCGCCTTTCAGGAGACTCCCGCACTCAGCCCCAAAGGAGGCCAGGCCCGCCAAGCAGGAGAGAGGTGCGGGCGCCAGGCTTGCAGGCAGCAGCCTGAGGGTGCTTGGGTCGCCCCTGCCTCCTGGGGATGGGACTGGTCCCGCTGTCCTGCAGCCTGCGTGGCACCGTGAGGCTCCTCACTTGCGCCTAGACCCGCCGTCCAGCCCTGGGTGGTCCCAGGGGAGAGCGCACAGGGCTCGGGTTCGGGTTCAGCTACATTTCCCCCGGCCCCCCGCGTCACCCCGCGCTGTTGCCTCCCACAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGTGAGTGAGCGTGGTCGGCGGGGAGGCCTGAACCCACACCCACACCCTACACCCCACCCCACACTCCCCACCCACATCATACAGCCCACAACCACACCCCACCCACACCCCACACTCCCACCCACACCTTGCACCCCACCCCACACCCATGCCCTGCACCCACACCCTACACTCCACAGCCACACTCCACCACACCCCCACCCACACCCTACTCCCCACCTCATACCCTGCACCTCACCACACTCCACAGCCACACCCCACCCCACACCCCACACTCCCACCCACACCCTACACCCACCCCACACCCTACACCCAACCCAAACCCACCCAAACCCACCACTCCCACTCTCCACCCACACCCACACCCCTTCCTCACACCCCACACCCCCATCCCCCACTCACCACCCACGCCCACACCCCACACCCCATACCCCGGAGGTGGCACTCCTGCTCCCCCCCAGGGCTGGCAGCCCCTCATCCTCTGCTGCAGGACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGTGACCCCAGCCCCTGTGGAGGGGGTGCTGGCCCCCAGCCCCGCCCGCCTGGCCCCTGGGCCTGCCAAGGTCAGTGCCGCAGGGGCCCTCCATGCATGCCGGTGCTGGGGGTGGGGAACCCCTTGGGTTGGTGTTGGGGGAGCACATCTCAGGGCAGACCCTGGGTGCCAGCTTCGAGGGCTTGCACCAGACGCACTGACCATGTGCTCATTATCTGTAGAAAATATTTCCCCTTTAAACCAATTCTTTTTGGCAACTTAAATATAGTTAAAAAGGAAGCTCCCCCCGAGGGTTGGTGGCTGACGTCACGGTTGGCTGTGTGGCCGCCTCACAGCATGAGCCTGAGAGTCCTGCCAGGGCTCCCTGGTGGGGTGAAGGGAGAGCGGGAGCGCCCGGCCTGCAGGAGCAAACCCCCACCCTGTCTGACCCCTCCAGGTTGTCTCACCCCCAGCCCTCCCTGGGGCCAGGATCCACCCCACTGTGTGGCCAGAGCCCTCTCAGAGAGGCAAAGTGACCCCGGGTCCAGCCAGTAGCTCTTCCTGTCCTCCTGCTCCGGGGTCAGAGAGGACCTGGGTGGCGCGGAGACCCCTGACTGCTGGGGCGGCT
|
pathogenic
| 319,944 |
Is the genetic mutation found on chromosome 21 at position 44293060, within the gene AIRE (autoimmune regulator), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
GGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGAGGGAGGCCAGGCGAGAAAGGCTCCGGGAGGCACAGGGCCTGGGGCTGTGGGGGGAGCGTGGGGGGCTGCGGGGGGAAGGGGACGCTCCTAGACCTCCACTCCAGCTCCTGGCCCTGGGCATTACTGCTCCCCCCACAAGGCAGGACAATGAAGGGGGGGATGTCCCAGCACACGTGGGAGCCCTCCCCTCCCTGCCTCAATTCCCTTCCCTGCACCCCTGTGGGCACCGCCTTTCAGGAGACTCCCGCACTCAGCCCCAAAGGAGGCCAGGCCCGCCAAGCAGGAGAGAGGTGCGGGCGCCAGGCTTGCAGGCAGCAGCCTGAGGGTGCTTGGGTCGCCCCTGCCTCCTGGGGATGGGACTGGTCCCGCTGTCCTGCAGCCTGCGTGGCACCGTGAGGCTCCTCACTTGCGCCTAGACCCGCCGTCCAGCCCTGGGTGGTCCCAGGGGAGAGCGCACAGGGCTCGGGTTCGGGTTCAGCTACATTTCCCCCGGCCCCCCGCGTCACCCCGCGCTGTTGCCTCCCACAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGTGAGTGAGCGTGGTCGGCGGGGAGGCCTGAACCCACACCCACACCCTACACCCCACCCCACACTCCCCACCCACATCATACAGCCCACAACCACACCCCACCCACACCCCACACTCCCACCCACACCTTGCACCCCACCCCACACCCATGCCCTGCACCCACACCCTACACTCCACAGCCACACTCCACCACACCCCCACCCACACCCTACTCCCCACCTCATACCCTGCACCTCACCACACTCCACAGCCACACCCCACCCCACACCCCACACTCCCACCCACACCCTACACCCACCCCACACCCTACACCCAACCCAAACCCACCCAAACCCACCACTCCCACTCTCCACCCACACCCACACCCCTTCCTCACACCCCACACCCCCATCCCCCACTCACCACCCACGCCCACACCCCACACCCCATACCCCGGAGGTGGCACTCCTGCTCCCCCCCAGGGCTGGCAGCCCCTCATCCTCTGCTGCAGGACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGTGACCCCAGCCCCTGTGGAGGGGGTGCTGGCCCCCAGCCCCGCCCGCCTGGCCCCTGGGCCTGCCAAGGTCAGTGCCGCAGGGGCCCTCCATGCATGCCGGTGCTGGGGGTGGGGAACCCCTTGGGTTGGTGTTGGGGGAGCACATCTCAGGGCAGACCCTGGGTGCCAGCTTCGAGGGCTTGCACCAGACGCACTGACCATGTGCTCATTATCTGTAGAAAATATTTCCCCTTTAAACCAATTCTTTTTGGCAACTTAAATATAGTTAAAAAGGAAGCTCCCCCCGAGGGTTGGTGGCTGACGTCACGGTTGGCTGTGTGGCCGCCTCACAGCATGAGCCTGAGAGTCCTGCCAGGGCTCCCTGGTGGGGTGAAGGGAGAGCGGGAGCGCCCGGCCTGCAGGAGCAAACCCCCACCCTGTCTGACCCCTCCAGGTTGTCTCACCCCCAGCCCTCCCTGGGGCCAGGATCCACCCCACTGTGTGGCCAGAGCCCTCTCAGAGAGGCAAAGTGACCCCGGGTCCAGCCAGTAGCTCTTCCTGTCCTCCTGCTCCGGGGTCAGAGAGGACCTGGGTGGCGCGGAGACCCCTGACTGCTGGGGCGGCTGGGCTTGCCCTGGAGCTGGGTGTGGGGGAGGCCCGAGTCGCTGCTGCAGGAGCCTCCGGGGGGGTGG
|
GGAGCTGTTTTGGGAAGGAGGTGGCTCTCAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATAGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGAGGGAGGCCAGGCGAGAAAGGCTCCGGGAGGCACAGGGCCTGGGGCTGTGGGGGGAGCGTGGGGGGCTGCGGGGGGAAGGGGACGCTCCTAGACCTCCACTCCAGCTCCTGGCCCTGGGCATTACTGCTCCCCCCACAAGGCAGGACAATGAAGGGGGGGATGTCCCAGCACACGTGGGAGCCCTCCCCTCCCTGCCTCAATTCCCTTCCCTGCACCCCTGTGGGCACCGCCTTTCAGGAGACTCCCGCACTCAGCCCCAAAGGAGGCCAGGCCCGCCAAGCAGGAGAGAGGTGCGGGCGCCAGGCTTGCAGGCAGCAGCCTGAGGGTGCTTGGGTCGCCCCTGCCTCCTGGGGATGGGACTGGTCCCGCTGTCCTGCAGCCTGCGTGGCACCGTGAGGCTCCTCACTTGCGCCTAGACCCGCCGTCCAGCCCTGGGTGGTCCCAGGGGAGAGCGCACAGGGCTCGGGTTCGGGTTCAGCTACATTTCCCCCGGCCCCCCGCGTCACCCCGCGCTGTTGCCTCCCACAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGTGAGTGAGCGTGGTCGGCGGGGAGGCCTGAACCCACACCCACACCCTACACCCCACCCCACACTCCCCACCCACATCATACAGCCCACAACCACACCCCACCCACACCCCACACTCCCACCCACACCTTGCACCCCACCCCACACCCATGCCCTGCACCCACACCCTACACTCCACAGCCACACTCCACCACACCCCCACCCACACCCTACTCCCCACCTCATACCCTGCACCTCACCACACTCCACAGCCACACCCCACCCCACACCCCACACTCCCACCCACACCCTACACCCACCCCACACCCTACACCCAACCCAAACCCACCCAAACCCACCACTCCCACTCTCCACCCACACCCACACCCCTTCCTCACACCCCACACCCCCATCCCCCACTCACCACCCACGCCCACACCCCACACCCCATACCCCGGAGGTGGCACTCCTGCTCCCCCCCAGGGCTGGCAGCCCCTCATCCTCTGCTGCAGGACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGTGACCCCAGCCCCTGTGGAGGGGGTGCTGGCCCCCAGCCCCGCCCGCCTGGCCCCTGGGCCTGCCAAGGTCAGTGCCGCAGGGGCCCTCCATGCATGCCGGTGCTGGGGGTGGGGAACCCCTTGGGTTGGTGTTGGGGGAGCACATCTCAGGGCAGACCCTGGGTGCCAGCTTCGAGGGCTTGCACCAGACGCACTGACCATGTGCTCATTATCTGTAGAAAATATTTCCCCTTTAAACCAATTCTTTTTGGCAACTTAAATATAGTTAAAAAGGAAGCTCCCCCCGAGGGTTGGTGGCTGACGTCACGGTTGGCTGTGTGGCCGCCTCACAGCATGAGCCTGAGAGTCCTGCCAGGGCTCCCTGGTGGGGTGAAGGGAGAGCGGGAGCGCCCGGCCTGCAGGAGCAAACCCCCACCCTGTCTGACCCCTCCAGGTTGTCTCACCCCCAGCCCTCCCTGGGGCCAGGATCCACCCCACTGTGTGGCCAGAGCCCTCTCAGAGAGGCAAAGTGACCCCGGGTCCAGCCAGTAGCTCTTCCTGTCCTCCTGCTCCGGGGTCAGAGAGGACCTGGGTGGCGCGGAGACCCCTGACTGCTGGGGCGGCTGGGCTTGCCCTGGAGCTGGGTGTGGGGGAGGCCCGAGTCGCTGCTGCAGGAGCCTCCGGGGGGGTG
|
pathogenic
| 319,948 |
Determine if the mutation at chromosome 21, position 44293088 in gene AIRE (autoimmune regulator) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
CAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGAGGGAGGCCAGGCGAGAAAGGCTCCGGGAGGCACAGGGCCTGGGGCTGTGGGGGGAGCGTGGGGGGCTGCGGGGGGAAGGGGACGCTCCTAGACCTCCACTCCAGCTCCTGGCCCTGGGCATTACTGCTCCCCCCACAAGGCAGGACAATGAAGGGGGGGATGTCCCAGCACACGTGGGAGCCCTCCCCTCCCTGCCTCAATTCCCTTCCCTGCACCCCTGTGGGCACCGCCTTTCAGGAGACTCCCGCACTCAGCCCCAAAGGAGGCCAGGCCCGCCAAGCAGGAGAGAGGTGCGGGCGCCAGGCTTGCAGGCAGCAGCCTGAGGGTGCTTGGGTCGCCCCTGCCTCCTGGGGATGGGACTGGTCCCGCTGTCCTGCAGCCTGCGTGGCACCGTGAGGCTCCTCACTTGCGCCTAGACCCGCCGTCCAGCCCTGGGTGGTCCCAGGGGAGAGCGCACAGGGCTCGGGTTCGGGTTCAGCTACATTTCCCCCGGCCCCCCGCGTCACCCCGCGCTGTTGCCTCCCACAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGTGAGTGAGCGTGGTCGGCGGGGAGGCCTGAACCCACACCCACACCCTACACCCCACCCCACACTCCCCACCCACATCATACAGCCCACAACCACACCCCACCCACACCCCACACTCCCACCCACACCTTGCACCCCACCCCACACCCATGCCCTGCACCCACACCCTACACTCCACAGCCACACTCCACCACACCCCCACCCACACCCTACTCCCCACCTCATACCCTGCACCTCACCACACTCCACAGCCACACCCCACCCCACACCCCACACTCCCACCCACACCCTACACCCACCCCACACCCTACACCCAACCCAAACCCACCCAAACCCACCACTCCCACTCTCCACCCACACCCACACCCCTTCCTCACACCCCACACCCCCATCCCCCACTCACCACCCACGCCCACACCCCACACCCCATACCCCGGAGGTGGCACTCCTGCTCCCCCCCAGGGCTGGCAGCCCCTCATCCTCTGCTGCAGGACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGTGACCCCAGCCCCTGTGGAGGGGGTGCTGGCCCCCAGCCCCGCCCGCCTGGCCCCTGGGCCTGCCAAGGTCAGTGCCGCAGGGGCCCTCCATGCATGCCGGTGCTGGGGGTGGGGAACCCCTTGGGTTGGTGTTGGGGGAGCACATCTCAGGGCAGACCCTGGGTGCCAGCTTCGAGGGCTTGCACCAGACGCACTGACCATGTGCTCATTATCTGTAGAAAATATTTCCCCTTTAAACCAATTCTTTTTGGCAACTTAAATATAGTTAAAAAGGAAGCTCCCCCCGAGGGTTGGTGGCTGACGTCACGGTTGGCTGTGTGGCCGCCTCACAGCATGAGCCTGAGAGTCCTGCCAGGGCTCCCTGGTGGGGTGAAGGGAGAGCGGGAGCGCCCGGCCTGCAGGAGCAAACCCCCACCCTGTCTGACCCCTCCAGGTTGTCTCACCCCCAGCCCTCCCTGGGGCCAGGATCCACCCCACTGTGTGGCCAGAGCCCTCTCAGAGAGGCAAAGTGACCCCGGGTCCAGCCAGTAGCTCTTCCTGTCCTCCTGCTCCGGGGTCAGAGAGGACCTGGGTGGCGCGGAGACCCCTGACTGCTGGGGCGGCTGGGCTTGCCCTGGAGCTGGGTGTGGGGGAGGCCCGAGTCGCTGCTGCAGGAGCCTCCGGGGGGGTGGCCTCTTGCCCTGACCGTCCCCAGCAGAG
|
CAGGAGGGTGCTGCACCCCAGCCCAGTCTGCATGGGCGTCTCTTGCCTGTGCCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGAGGGAGGCCAGGCGAGAAAGGCTCCGGGAGGCACAGGGCCTGGGGCTGTGGGGGGAGCGTGGGGGGCTGCGGGGGGAAGGGGACGCTCCTAGACCTCCACTCCAGCTCCTGGCCCTGGGCATTACTGCTCCCCCCACAAGGCAGGACAATGAAGGGGGGGATGTCCCAGCACACGTGGGAGCCCTCCCCTCCCTGCCTCAATTCCCTTCCCTGCACCCCTGTGGGCACCGCCTTTCAGGAGACTCCCGCACTCAGCCCCAAAGGAGGCCAGGCCCGCCAAGCAGGAGAGAGGTGCGGGCGCCAGGCTTGCAGGCAGCAGCCTGAGGGTGCTTGGGTCGCCCCTGCCTCCTGGGGATGGGACTGGTCCCGCTGTCCTGCAGCCTGCGTGGCACCGTGAGGCTCCTCACTTGCGCCTAGACCCGCCGTCCAGCCCTGGGTGGTCCCAGGGGAGAGCGCACAGGGCTCGGGTTCGGGTTCAGCTACATTTCCCCCGGCCCCCCGCGTCACCCCGCGCTGTTGCCTCCCACAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGTGAGTGAGCGTGGTCGGCGGGGAGGCCTGAACCCACACCCACACCCTACACCCCACCCCACACTCCCCACCCACATCATACAGCCCACAACCACACCCCACCCACACCCCACACTCCCACCCACACCTTGCACCCCACCCCACACCCATGCCCTGCACCCACACCCTACACTCCACAGCCACACTCCACCACACCCCCACCCACACCCTACTCCCCACCTCATACCCTGCACCTCACCACACTCCACAGCCACACCCCACCCCACACCCCACACTCCCACCCACACCCTACACCCACCCCACACCCTACACCCAACCCAAACCCACCCAAACCCACCACTCCCACTCTCCACCCACACCCACACCCCTTCCTCACACCCCACACCCCCATCCCCCACTCACCACCCACGCCCACACCCCACACCCCATACCCCGGAGGTGGCACTCCTGCTCCCCCCCAGGGCTGGCAGCCCCTCATCCTCTGCTGCAGGACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGTGACCCCAGCCCCTGTGGAGGGGGTGCTGGCCCCCAGCCCCGCCCGCCTGGCCCCTGGGCCTGCCAAGGTCAGTGCCGCAGGGGCCCTCCATGCATGCCGGTGCTGGGGGTGGGGAACCCCTTGGGTTGGTGTTGGGGGAGCACATCTCAGGGCAGACCCTGGGTGCCAGCTTCGAGGGCTTGCACCAGACGCACTGACCATGTGCTCATTATCTGTAGAAAATATTTCCCCTTTAAACCAATTCTTTTTGGCAACTTAAATATAGTTAAAAAGGAAGCTCCCCCCGAGGGTTGGTGGCTGACGTCACGGTTGGCTGTGTGGCCGCCTCACAGCATGAGCCTGAGAGTCCTGCCAGGGCTCCCTGGTGGGGTGAAGGGAGAGCGGGAGCGCCCGGCCTGCAGGAGCAAACCCCCACCCTGTCTGACCCCTCCAGGTTGTCTCACCCCCAGCCCTCCCTGGGGCCAGGATCCACCCCACTGTGTGGCCAGAGCCCTCTCAGAGAGGCAAAGTGACCCCGGGTCCAGCCAGTAGCTCTTCCTGTCCTCCTGCTCCGGGGTCAGAGAGGACCTGGGTGGCGCGGAGACCCCTGACTGCTGGGGCGGCTGGGCTTGCCCTGGAGCTGGGTGTGGGGGAGGCCCGAGTCGCTGCTGCAGGAGCCTCCGGGGGGGTGGCCTCTTGCCCTGACCGTCCCCAGCAGAGN
|
pathogenic
| 319,949 |
Mutation at chromosome 21, position 44293141, within AIRE (autoimmune regulator): benign or pathogenic? If pathogenic, indicate the disease(s).
|
pathogenic; ['Inborn_genetic_diseases', 'Polyglandular_autoimmune_syndrome,_type_1']
|
AGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGAGGGAGGCCAGGCGAGAAAGGCTCCGGGAGGCACAGGGCCTGGGGCTGTGGGGGGAGCGTGGGGGGCTGCGGGGGGAAGGGGACGCTCCTAGACCTCCACTCCAGCTCCTGGCCCTGGGCATTACTGCTCCCCCCACAAGGCAGGACAATGAAGGGGGGGATGTCCCAGCACACGTGGGAGCCCTCCCCTCCCTGCCTCAATTCCCTTCCCTGCACCCCTGTGGGCACCGCCTTTCAGGAGACTCCCGCACTCAGCCCCAAAGGAGGCCAGGCCCGCCAAGCAGGAGAGAGGTGCGGGCGCCAGGCTTGCAGGCAGCAGCCTGAGGGTGCTTGGGTCGCCCCTGCCTCCTGGGGATGGGACTGGTCCCGCTGTCCTGCAGCCTGCGTGGCACCGTGAGGCTCCTCACTTGCGCCTAGACCCGCCGTCCAGCCCTGGGTGGTCCCAGGGGAGAGCGCACAGGGCTCGGGTTCGGGTTCAGCTACATTTCCCCCGGCCCCCCGCGTCACCCCGCGCTGTTGCCTCCCACAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGTGAGTGAGCGTGGTCGGCGGGGAGGCCTGAACCCACACCCACACCCTACACCCCACCCCACACTCCCCACCCACATCATACAGCCCACAACCACACCCCACCCACACCCCACACTCCCACCCACACCTTGCACCCCACCCCACACCCATGCCCTGCACCCACACCCTACACTCCACAGCCACACTCCACCACACCCCCACCCACACCCTACTCCCCACCTCATACCCTGCACCTCACCACACTCCACAGCCACACCCCACCCCACACCCCACACTCCCACCCACACCCTACACCCACCCCACACCCTACACCCAACCCAAACCCACCCAAACCCACCACTCCCACTCTCCACCCACACCCACACCCCTTCCTCACACCCCACACCCCCATCCCCCACTCACCACCCACGCCCACACCCCACACCCCATACCCCGGAGGTGGCACTCCTGCTCCCCCCCAGGGCTGGCAGCCCCTCATCCTCTGCTGCAGGACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGTGACCCCAGCCCCTGTGGAGGGGGTGCTGGCCCCCAGCCCCGCCCGCCTGGCCCCTGGGCCTGCCAAGGTCAGTGCCGCAGGGGCCCTCCATGCATGCCGGTGCTGGGGGTGGGGAACCCCTTGGGTTGGTGTTGGGGGAGCACATCTCAGGGCAGACCCTGGGTGCCAGCTTCGAGGGCTTGCACCAGACGCACTGACCATGTGCTCATTATCTGTAGAAAATATTTCCCCTTTAAACCAATTCTTTTTGGCAACTTAAATATAGTTAAAAAGGAAGCTCCCCCCGAGGGTTGGTGGCTGACGTCACGGTTGGCTGTGTGGCCGCCTCACAGCATGAGCCTGAGAGTCCTGCCAGGGCTCCCTGGTGGGGTGAAGGGAGAGCGGGAGCGCCCGGCCTGCAGGAGCAAACCCCCACCCTGTCTGACCCCTCCAGGTTGTCTCACCCCCAGCCCTCCCTGGGGCCAGGATCCACCCCACTGTGTGGCCAGAGCCCTCTCAGAGAGGCAAAGTGACCCCGGGTCCAGCCAGTAGCTCTTCCTGTCCTCCTGCTCCGGGGTCAGAGAGGACCTGGGTGGCGCGGAGACCCCTGACTGCTGGGGCGGCTGGGCTTGCCCTGGAGCTGGGTGTGGGGGAGGCCCGAGTCGCTGCTGCAGGAGCCTCCGGGGGGGTGGCCTCTTGCCCTGACCGTCCCCAGCAGAGGCCTCCTGAGCACATCCTGGCCACCGAGGAGCCTTTAGGGATCCTGGGGTGAT
|
AGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGAGGGAGGCCAGGCGAGAAAGGCTCCGGGAGGCACAGGGCCTGGGGCTGTGGGGGGAGCGTGGGGGGCTGCGGGGGGAAGGGGACGCTCCTAGACCTCCACTCCAGCTCCTGGCCCTGGGCATTACTGCTCCCCCCACAAGGCAGGACAATGAAGGGGGGGATGTCCCAGCACACGTGGGAGCCCTCCCCTCCCTGCCTCAATTCCCTTCCCTGCACCCCTGTGGGCACCGCCTTTCAGGAGACTCCCGCACTCAGCCCCAAAGGAGGCCAGGCCCGCCAAGCAGGAGAGAGGTGCGGGCGCCAGGCTTGCAGGCAGCAGCCTGAGGGTGCTTGGGTCGCCCCTGCCTCCTGGGGATGGGACTGGTCCCGCTGTCCTGCAGCCTGCGTGGCACCGTGAGGCTCCTCACTTGCGCCTAGACCCGCCGTCCAGCCCTGGGTGGTCCCAGGGGAGAGCGCACAGGGCTCGGGTTCGGGTTCAGCTACATTTCCCCCGGCCCCCCGCGTCACCCCGCGCTGTTGCCTCCCACAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGTGAGTGAGCGTGGTCGGCGGGGAGGCCTGAACCCACACCCACACCCTACACCCCACCCCACACTCCCCACCCACATCATACAGCCCACAACCACACCCCACCCACACCCCACACTCCCACCCACACCTTGCACCCCACCCCACACCCATGCCCTGCACCCACACCCTACACTCCACAGCCACACTCCACCACACCCCCACCCACACCCTACTCCCCACCTCATACCCTGCACCTCACCACACTCCACAGCCACACCCCACCCCACACCCCACACTCCCACCCACACCCTACACCCACCCCACACCCTACACCCAACCCAAACCCACCCAAACCCACCACTCCCACTCTCCACCCACACCCACACCCCTTCCTCACACCCCACACCCCCATCCCCCACTCACCACCCACGCCCACACCCCACACCCCATACCCCGGAGGTGGCACTCCTGCTCCCCCCCAGGGCTGGCAGCCCCTCATCCTCTGCTGCAGGACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGTGACCCCAGCCCCTGTGGAGGGGGTGCTGGCCCCCAGCCCCGCCCGCCTGGCCCCTGGGCCTGCCAAGGTCAGTGCCGCAGGGGCCCTCCATGCATGCCGGTGCTGGGGGTGGGGAACCCCTTGGGTTGGTGTTGGGGGAGCACATCTCAGGGCAGACCCTGGGTGCCAGCTTCGAGGGCTTGCACCAGACGCACTGACCATGTGCTCATTATCTGTAGAAAATATTTCCCCTTTAAACCAATTCTTTTTGGCAACTTAAATATAGTTAAAAAGGAAGCTCCCCCCGAGGGTTGGTGGCTGACGTCACGGTTGGCTGTGTGGCCGCCTCACAGCATGAGCCTGAGAGTCCTGCCAGGGCTCCCTGGTGGGGTGAAGGGAGAGCGGGAGCGCCCGGCCTGCAGGAGCAAACCCCCACCCTGTCTGACCCCTCCAGGTTGTCTCACCCCCAGCCCTCCCTGGGGCCAGGATCCACCCCACTGTGTGGCCAGAGCCCTCTCAGAGAGGCAAAGTGACCCCGGGTCCAGCCAGTAGCTCTTCCTGTCCTCCTGCTCCGGGGTCAGAGAGGACCTGGGTGGCGCGGAGACCCCTGACTGCTGGGGCGGCTGGGCTTGCCCTGGAGCTGGGTGTGGGGGAGGCCCGAGTCGCTGCTGCAGGAGCCTCCGGGGGGGTGGCCTCTTGCCCTGACCGTCCCCAGCAGAGGCCTCCTGAGCACATCCTGGCCACCGAGGAGCCTTTAGGGATCCTGGGGTGA
|
pathogenic
| 319,954 |
Variant at chromosome 21, position 44293160, gene AIRE (autoimmune regulator): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
TGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGAGGGAGGCCAGGCGAGAAAGGCTCCGGGAGGCACAGGGCCTGGGGCTGTGGGGGGAGCGTGGGGGGCTGCGGGGGGAAGGGGACGCTCCTAGACCTCCACTCCAGCTCCTGGCCCTGGGCATTACTGCTCCCCCCACAAGGCAGGACAATGAAGGGGGGGATGTCCCAGCACACGTGGGAGCCCTCCCCTCCCTGCCTCAATTCCCTTCCCTGCACCCCTGTGGGCACCGCCTTTCAGGAGACTCCCGCACTCAGCCCCAAAGGAGGCCAGGCCCGCCAAGCAGGAGAGAGGTGCGGGCGCCAGGCTTGCAGGCAGCAGCCTGAGGGTGCTTGGGTCGCCCCTGCCTCCTGGGGATGGGACTGGTCCCGCTGTCCTGCAGCCTGCGTGGCACCGTGAGGCTCCTCACTTGCGCCTAGACCCGCCGTCCAGCCCTGGGTGGTCCCAGGGGAGAGCGCACAGGGCTCGGGTTCGGGTTCAGCTACATTTCCCCCGGCCCCCCGCGTCACCCCGCGCTGTTGCCTCCCACAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGTGAGTGAGCGTGGTCGGCGGGGAGGCCTGAACCCACACCCACACCCTACACCCCACCCCACACTCCCCACCCACATCATACAGCCCACAACCACACCCCACCCACACCCCACACTCCCACCCACACCTTGCACCCCACCCCACACCCATGCCCTGCACCCACACCCTACACTCCACAGCCACACTCCACCACACCCCCACCCACACCCTACTCCCCACCTCATACCCTGCACCTCACCACACTCCACAGCCACACCCCACCCCACACCCCACACTCCCACCCACACCCTACACCCACCCCACACCCTACACCCAACCCAAACCCACCCAAACCCACCACTCCCACTCTCCACCCACACCCACACCCCTTCCTCACACCCCACACCCCCATCCCCCACTCACCACCCACGCCCACACCCCACACCCCATACCCCGGAGGTGGCACTCCTGCTCCCCCCCAGGGCTGGCAGCCCCTCATCCTCTGCTGCAGGACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGTGACCCCAGCCCCTGTGGAGGGGGTGCTGGCCCCCAGCCCCGCCCGCCTGGCCCCTGGGCCTGCCAAGGTCAGTGCCGCAGGGGCCCTCCATGCATGCCGGTGCTGGGGGTGGGGAACCCCTTGGGTTGGTGTTGGGGGAGCACATCTCAGGGCAGACCCTGGGTGCCAGCTTCGAGGGCTTGCACCAGACGCACTGACCATGTGCTCATTATCTGTAGAAAATATTTCCCCTTTAAACCAATTCTTTTTGGCAACTTAAATATAGTTAAAAAGGAAGCTCCCCCCGAGGGTTGGTGGCTGACGTCACGGTTGGCTGTGTGGCCGCCTCACAGCATGAGCCTGAGAGTCCTGCCAGGGCTCCCTGGTGGGGTGAAGGGAGAGCGGGAGCGCCCGGCCTGCAGGAGCAAACCCCCACCCTGTCTGACCCCTCCAGGTTGTCTCACCCCCAGCCCTCCCTGGGGCCAGGATCCACCCCACTGTGTGGCCAGAGCCCTCTCAGAGAGGCAAAGTGACCCCGGGTCCAGCCAGTAGCTCTTCCTGTCCTCCTGCTCCGGGGTCAGAGAGGACCTGGGTGGCGCGGAGACCCCTGACTGCTGGGGCGGCTGGGCTTGCCCTGGAGCTGGGTGTGGGGGAGGCCCGAGTCGCTGCTGCAGGAGCCTCCGGGGGGGTGGCCTCTTGCCCTGACCGTCCCCAGCAGAGGCCTCCTGAGCACATCCTGGCCACCGAGGAGCCTTTAGGGATCCTGGGGTGATGACACGTCCCACCTGCTCC
|
TGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGAGGGAGGCCAGGCGAGAAAGGCTCCGGGAGGCACAGGGCCTGGGGCTGTGGGGGGAGCGTGGGGGGCTGCGGGGGGAAGGGGACGCTCCTAGACCTCCACTCCAGCTCCTGGCCCTGGGCATTACTGCTCCCCCCACAAGGCAGGACAATGAAGGGGGGGATGTCCCAGCACACGTGGGAGCCCTCCCCTCCCTGCCTCAATTCCCTTCCCTGCACCCCTGTGGGCACCGCCTTTCAGGAGACTCCCGCACTCAGCCCCAAAGGAGGCCAGGCCCGCCAAGCAGGAGAGAGGTGCGGGCGCCAGGCTTGCAGGCAGCAGCCTGAGGGTGCTTGGGTCGCCCCTGCCTCCTGGGGATGGGACTGGTCCCGCTGTCCTGCAGCCTGCGTGGCACCGTGAGGCTCCTCACTTGCGCCTAGACCCGCCGTCCAGCCCTGGGTGGTCCCAGGGGAGAGCGCACAGGGCTCGGGTTCGGGTTCAGCTACATTTCCCCCGGCCCCCCGCGTCACCCCGCGCTGTTGCCTCCCACAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGTGAGTGAGCGTGGTCGGCGGGGAGGCCTGAACCCACACCCACACCCTACACCCCACCCCACACTCCCCACCCACATCATACAGCCCACAACCACACCCCACCCACACCCCACACTCCCACCCACACCTTGCACCCCACCCCACACCCATGCCCTGCACCCACACCCTACACTCCACAGCCACACTCCACCACACCCCCACCCACACCCTACTCCCCACCTCATACCCTGCACCTCACCACACTCCACAGCCACACCCCACCCCACACCCCACACTCCCACCCACACCCTACACCCACCCCACACCCTACACCCAACCCAAACCCACCCAAACCCACCACTCCCACTCTCCACCCACACCCACACCCCTTCCTCACACCCCACACCCCCATCCCCCACTCACCACCCACGCCCACACCCCACACCCCATACCCCGGAGGTGGCACTCCTGCTCCCCCCCAGGGCTGGCAGCCCCTCATCCTCTGCTGCAGGACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGTGACCCCAGCCCCTGTGGAGGGGGTGCTGGCCCCCAGCCCCGCCCGCCTGGCCCCTGGGCCTGCCAAGGTCAGTGCCGCAGGGGCCCTCCATGCATGCCGGTGCTGGGGGTGGGGAACCCCTTGGGTTGGTGTTGGGGGAGCACATCTCAGGGCAGACCCTGGGTGCCAGCTTCGAGGGCTTGCACCAGACGCACTGACCATGTGCTCATTATCTGTAGAAAATATTTCCCCTTTAAACCAATTCTTTTTGGCAACTTAAATATAGTTAAAAAGGAAGCTCCCCCCGAGGGTTGGTGGCTGACGTCACGGTTGGCTGTGTGGCCGCCTCACAGCATGAGCCTGAGAGTCCTGCCAGGGCTCCCTGGTGGGGTGAAGGGAGAGCGGGAGCGCCCGGCCTGCAGGAGCAAACCCCCACCCTGTCTGACCCCTCCAGGTTGTCTCACCCCCAGCCCTCCCTGGGGCCAGGATCCACCCCACTGTGTGGCCAGAGCCCTCTCAGAGAGGCAAAGTGACCCCGGGTCCAGCCAGTAGCTCTTCCTGTCCTCCTGCTCCGGGGTCAGAGAGGACCTGGGTGGCGCGGAGACCCCTGACTGCTGGGGCGGCTGGGCTTGCCCTGGAGCTGGGTGTGGGGGAGGCCCGAGTCGCTGCTGCAGGAGCCTCCGGGGGGGTGGCCTCTTGCCCTGACCGTCCCCAGCAGAGGCCTCCTGAGCACATCCTGGCCACCGAGGAGCCTTTAGGGATCCTGGGGTGATGACACGTCCCACCTGCTCCN
|
pathogenic
| 319,955 |
Considering the variant on chromosome 21, location 44293174, involving gene AIRE (autoimmune regulator), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
ACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGAGGGAGGCCAGGCGAGAAAGGCTCCGGGAGGCACAGGGCCTGGGGCTGTGGGGGGAGCGTGGGGGGCTGCGGGGGGAAGGGGACGCTCCTAGACCTCCACTCCAGCTCCTGGCCCTGGGCATTACTGCTCCCCCCACAAGGCAGGACAATGAAGGGGGGGATGTCCCAGCACACGTGGGAGCCCTCCCCTCCCTGCCTCAATTCCCTTCCCTGCACCCCTGTGGGCACCGCCTTTCAGGAGACTCCCGCACTCAGCCCCAAAGGAGGCCAGGCCCGCCAAGCAGGAGAGAGGTGCGGGCGCCAGGCTTGCAGGCAGCAGCCTGAGGGTGCTTGGGTCGCCCCTGCCTCCTGGGGATGGGACTGGTCCCGCTGTCCTGCAGCCTGCGTGGCACCGTGAGGCTCCTCACTTGCGCCTAGACCCGCCGTCCAGCCCTGGGTGGTCCCAGGGGAGAGCGCACAGGGCTCGGGTTCGGGTTCAGCTACATTTCCCCCGGCCCCCCGCGTCACCCCGCGCTGTTGCCTCCCACAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGTGAGTGAGCGTGGTCGGCGGGGAGGCCTGAACCCACACCCACACCCTACACCCCACCCCACACTCCCCACCCACATCATACAGCCCACAACCACACCCCACCCACACCCCACACTCCCACCCACACCTTGCACCCCACCCCACACCCATGCCCTGCACCCACACCCTACACTCCACAGCCACACTCCACCACACCCCCACCCACACCCTACTCCCCACCTCATACCCTGCACCTCACCACACTCCACAGCCACACCCCACCCCACACCCCACACTCCCACCCACACCCTACACCCACCCCACACCCTACACCCAACCCAAACCCACCCAAACCCACCACTCCCACTCTCCACCCACACCCACACCCCTTCCTCACACCCCACACCCCCATCCCCCACTCACCACCCACGCCCACACCCCACACCCCATACCCCGGAGGTGGCACTCCTGCTCCCCCCCAGGGCTGGCAGCCCCTCATCCTCTGCTGCAGGACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGTGACCCCAGCCCCTGTGGAGGGGGTGCTGGCCCCCAGCCCCGCCCGCCTGGCCCCTGGGCCTGCCAAGGTCAGTGCCGCAGGGGCCCTCCATGCATGCCGGTGCTGGGGGTGGGGAACCCCTTGGGTTGGTGTTGGGGGAGCACATCTCAGGGCAGACCCTGGGTGCCAGCTTCGAGGGCTTGCACCAGACGCACTGACCATGTGCTCATTATCTGTAGAAAATATTTCCCCTTTAAACCAATTCTTTTTGGCAACTTAAATATAGTTAAAAAGGAAGCTCCCCCCGAGGGTTGGTGGCTGACGTCACGGTTGGCTGTGTGGCCGCCTCACAGCATGAGCCTGAGAGTCCTGCCAGGGCTCCCTGGTGGGGTGAAGGGAGAGCGGGAGCGCCCGGCCTGCAGGAGCAAACCCCCACCCTGTCTGACCCCTCCAGGTTGTCTCACCCCCAGCCCTCCCTGGGGCCAGGATCCACCCCACTGTGTGGCCAGAGCCCTCTCAGAGAGGCAAAGTGACCCCGGGTCCAGCCAGTAGCTCTTCCTGTCCTCCTGCTCCGGGGTCAGAGAGGACCTGGGTGGCGCGGAGACCCCTGACTGCTGGGGCGGCTGGGCTTGCCCTGGAGCTGGGTGTGGGGGAGGCCCGAGTCGCTGCTGCAGGAGCCTCCGGGGGGGTGGCCTCTTGCCCTGACCGTCCCCAGCAGAGGCCTCCTGAGCACATCCTGGCCACCGAGGAGCCTTTAGGGATCCTGGGGTGATGACACGTCCCACCTGCTCCACTGGCCCATGCTC
|
ACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGGTGAGCCTGCACCTCTGCCAGCGCAACCAGGCCACCCCGGTTCACGGCCGCCTCCACCCACTGACCCTGAAGGGAAGCCACCCCAAGCCTCTCCCATCCAAGATGGAAAGGGGTTCTGAGTCAGGTCACTGGGCCGTGGGGCCGGGGCCTGGGGTTTTCCCACCCTGCCACCTGCCTCCCGGTCTGGCCACACCTGCTGCCCAGCCTGGACAGCTGGGCCCCTGAGGGCAGCAAAGCAGAACAGAGGCCCAGGGCGAAGATGCCACCCTGTCCAAGCTCATCCCAGGCTGCAGCCCACGCCCCCATGGGTAGCCGGCCCCCACCCCCAAGCCCCACCCCAGAGTCCCACTCCAGACAGGGCTGGGGAGCACAGAGGCCACAGAGCTGTGCCCCCCAGGGCAGGTGGGAGTTTGTCCACCAATGCACAGGACGCCGGGCTTAGTGGGGGCGGGAGGCCTCCTCTGCGTTCACATCCCGGTGCTCCTTCCCCACGGCCCACCGAGCCCTGCCCCCATTCCAACCCCACAGGACGTGGCAGTCTGTGGGAGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGAGGGAGGCCAGGCGAGAAAGGCTCCGGGAGGCACAGGGCCTGGGGCTGTGGGGGGAGCGTGGGGGGCTGCGGGGGGAAGGGGACGCTCCTAGACCTCCACTCCAGCTCCTGGCCCTGGGCATTACTGCTCCCCCCACAAGGCAGGACAATGAAGGGGGGGATGTCCCAGCACACGTGGGAGCCCTCCCCTCCCTGCCTCAATTCCCTTCCCTGCACCCCTGTGGGCACCGCCTTTCAGGAGACTCCCGCACTCAGCCCCAAAGGAGGCCAGGCCCGCCAAGCAGGAGAGAGGTGCGGGCGCCAGGCTTGCAGGCAGCAGCCTGAGGGTGCTTGGGTCGCCCCTGCCTCCTGGGGATGGGACTGGTCCCGCTGTCCTGCAGCCTGCGTGGCACCGTGAGGCTCCTCACTTGCGCCTAGACCCGCCGTCCAGCCCTGGGTGGTCCCAGGGGAGAGCGCACAGGGCTCGGGTTCGGGTTCAGCTACATTTCCCCCGGCCCCCCGCGTCACCCCGCGCTGTTGCCTCCCACAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGTGAGTGAGCGTGGTCGGCGGGGAGGCCTGAACCCACACCCACACCCTACACCCCACCCCACACTCCCCACCCACATCATACAGCCCACAACCACACCCCACCCACACCCCACACTCCCACCCACACCTTGCACCCCACCCCACACCCATGCCCTGCACCCACACCCTACACTCCACAGCCACACTCCACCACACCCCCACCCACACCCTACTCCCCACCTCATACCCTGCACCTCACCACACTCCACAGCCACACCCCACCCCACACCCCACACTCCCACCCACACCCTACACCCACCCCACACCCTACACCCAACCCAAACCCACCCAAACCCACCACTCCCACTCTCCACCCACACCCACACCCCTTCCTCACACCCCACACCCCCATCCCCCACTCACCACCCACGCCCACACCCCACACCCCATACCCCGGAGGTGGCACTCCTGCTCCCCCCCAGGGCTGGCAGCCCCTCATCCTCTGCTGCAGGACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGTGACCCCAGCCCCTGTGGAGGGGGTGCTGGCCCCCAGCCCCGCCCGCCTGGCCCCTGGGCCTGCCAAGGTCAGTGCCGCAGGGGCCCTCCATGCATGCCGGTGCTGGGGGTGGGGAACCCCTTGGGTTGGTGTTGGGGGAGCACATCTCAGGGCAGACCCTGGGTGCCAGCTTCGAGGGCTTGCACCAGACGCACTGACCATGTGCTCATTATCTGTAGAAAATATTTCCCCTTTAAACCAATTCTTTTTGGCAACTTAAATATAGTTAAAAAGGAAGCTCCCCCCGAGGGTTGGTGGCTGACGTCACGGTTGGCTGTGTGGCCGCCTCACAGCATGAGCCTGAGAGTCCTGCCAGGGCTCCCTGGTGGGGTGAAGGGAGAGCGGGAGCGCCCGGCCTGCAGGAGCAAACCCCCACCCTGTCTGACCCCTCCAGGTTGTCTCACCCCCAGCCCTCCCTGGGGCCAGGATCCACCCCACTGTGTGGCCAGAGCCCTCTCAGAGAGGCAAAGTGACCCCGGGTCCAGCCAGTAGCTCTTCCTGTCCTCCTGCTCCGGGGTCAGAGAGGACCTGGGTGGCGCGGAGACCCCTGACTGCTGGGGCGGCTGGGCTTGCCCTGGAGCTGGGTGTGGGGGAGGCCCGAGTCGCTGCTGCAGGAGCCTCCGGGGGGGTGGCCTCTTGCCCTGACCGTCCCCAGCAGAGGCCTCCTGAGCACATCCTGGCCACCGAGGAGCCTTTAGGGATCCTGGGGTGATGACACGTCCCACCTGCTCCACTGGCCCATGCTCN
|
pathogenic
| 319,957 |
The mutation in gene AIRE (autoimmune regulator) at chromosome 21, position 44293805—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
AGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGAGGGAGGCCAGGCGAGAAAGGCTCCGGGAGGCACAGGGCCTGGGGCTGTGGGGGGAGCGTGGGGGGCTGCGGGGGGAAGGGGACGCTCCTAGACCTCCACTCCAGCTCCTGGCCCTGGGCATTACTGCTCCCCCCACAAGGCAGGACAATGAAGGGGGGGATGTCCCAGCACACGTGGGAGCCCTCCCCTCCCTGCCTCAATTCCCTTCCCTGCACCCCTGTGGGCACCGCCTTTCAGGAGACTCCCGCACTCAGCCCCAAAGGAGGCCAGGCCCGCCAAGCAGGAGAGAGGTGCGGGCGCCAGGCTTGCAGGCAGCAGCCTGAGGGTGCTTGGGTCGCCCCTGCCTCCTGGGGATGGGACTGGTCCCGCTGTCCTGCAGCCTGCGTGGCACCGTGAGGCTCCTCACTTGCGCCTAGACCCGCCGTCCAGCCCTGGGTGGTCCCAGGGGAGAGCGCACAGGGCTCGGGTTCGGGTTCAGCTACATTTCCCCCGGCCCCCCGCGTCACCCCGCGCTGTTGCCTCCCACAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGTGAGTGAGCGTGGTCGGCGGGGAGGCCTGAACCCACACCCACACCCTACACCCCACCCCACACTCCCCACCCACATCATACAGCCCACAACCACACCCCACCCACACCCCACACTCCCACCCACACCTTGCACCCCACCCCACACCCATGCCCTGCACCCACACCCTACACTCCACAGCCACACTCCACCACACCCCCACCCACACCCTACTCCCCACCTCATACCCTGCACCTCACCACACTCCACAGCCACACCCCACCCCACACCCCACACTCCCACCCACACCCTACACCCACCCCACACCCTACACCCAACCCAAACCCACCCAAACCCACCACTCCCACTCTCCACCCACACCCACACCCCTTCCTCACACCCCACACCCCCATCCCCCACTCACCACCCACGCCCACACCCCACACCCCATACCCCGGAGGTGGCACTCCTGCTCCCCCCCAGGGCTGGCAGCCCCTCATCCTCTGCTGCAGGACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGTGACCCCAGCCCCTGTGGAGGGGGTGCTGGCCCCCAGCCCCGCCCGCCTGGCCCCTGGGCCTGCCAAGGTCAGTGCCGCAGGGGCCCTCCATGCATGCCGGTGCTGGGGGTGGGGAACCCCTTGGGTTGGTGTTGGGGGAGCACATCTCAGGGCAGACCCTGGGTGCCAGCTTCGAGGGCTTGCACCAGACGCACTGACCATGTGCTCATTATCTGTAGAAAATATTTCCCCTTTAAACCAATTCTTTTTGGCAACTTAAATATAGTTAAAAAGGAAGCTCCCCCCGAGGGTTGGTGGCTGACGTCACGGTTGGCTGTGTGGCCGCCTCACAGCATGAGCCTGAGAGTCCTGCCAGGGCTCCCTGGTGGGGTGAAGGGAGAGCGGGAGCGCCCGGCCTGCAGGAGCAAACCCCCACCCTGTCTGACCCCTCCAGGTTGTCTCACCCCCAGCCCTCCCTGGGGCCAGGATCCACCCCACTGTGTGGCCAGAGCCCTCTCAGAGAGGCAAAGTGACCCCGGGTCCAGCCAGTAGCTCTTCCTGTCCTCCTGCTCCGGGGTCAGAGAGGACCTGGGTGGCGCGGAGACCCCTGACTGCTGGGGCGGCTGGGCTTGCCCTGGAGCTGGGTGTGGGGGAGGCCCGAGTCGCTGCTGCAGGAGCCTCCGGGGGGGTGGCCTCTTGCCCTGACCGTCCCCAGCAGAGGCCTCCTGAGCACATCCTGGCCACCGAGGAGCCTTTAGGGATCCTGGGGTGATGACACGTCCCACCTGCTCCACTGGCCCATGCTCTTTCCCAGCTGTGCCTCCGCCCCGTATACACCGTGTGGGTGACAGGCCACCCCGGCGTGGTACTCCCCAGGAGGGTGACAGCCTACCCCAGCGTGGTACTCCCCGGGCAGGTGACAGGCTTCCCCGGCATGCAGGCTCTGGCCTGGCATGGCACAAGCCTCAGACCCAGCCCTGCCCTTGGGGCTTTTGTGGAACAGTGGCGTGGCCCACAGCTGTCACTGTCCCCTTCCTTCTAGAAGCCTCCCTCCTCACACCACCCATCTGGAGTCAGGAGCCCAGCCGGGCATATACGCAGATGCCCCTCCCTAACCCCAGGCAGCTTTCCTGCAACTGCTCCCGCAGCGGGTACCTCGTCATTAACCTCCTGGGTTCTGTCTCTGAACAGCAGAGACCTCTTTCTTGTCATCGTGATGTGAAATGTAACGCCATGTCAGAGGAAAAGTTCTGGCTGGCCTTGGCCTCCCCCCTCAGCCTGCCCCCTTCCTCCAGGGTGGTTGGACGTGGCCCCAGACCCCATCCTGAGCAGCTCTCCCACCCCCTGGGAGCATCCTTAGGACCGGGGAGCATCCAGGGGCTTTCCCCTCCAGACCGGGCAGCCCCTCCCTCAGCCATGCAGGGCTGCCGGGCCTCG
|
AGGAAGAGCTCTGGGTGCAGTGGGGACCCACGTTCAGGCGAGGCTCTGCCCCAGCCCCTGAGTGGCCGTCATCAGGCCCCCTCTCAGCCTTGTGCCTCATCACTAGAATAAGGGGCACAGTGGGGGTCATTGCTCGGCTCCTGAAGCCGTTCCTCCTTGCCGTCTCTTTCTGCCCTTGATCACCTCCCCATTCTGCTGGGTGCCATTCCCCTTAACAGGTGGGTCAGTTTAGGGAGGCCCCCGGCAGGGCCCAGCCCTGAGAGGCAGGCAAAGCCACCAGGGCTCGCAGGTGTTGGGGATTCCTGGGGTTCATCAGAGAGCACGCCAAGGGGACCCTGATCACGCTGGCCAGGGCCACCCCACGAAGGGTAAATGTCCCCCTGCTGGGCTCTCCCTTCCTGTGTCTCTGCCCATCTCTCTGCTGTGCCTCGGTTCCCCCTCTGTGAAAAGACATGGTCGGAGCCCTGGAGCTCCACCCGTGGGTTTGGGGATCTGTCACCCGCTGTCTTGTTCTGCATGTCTCTGACTGGTGGACACACGAGCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGGTATGGCCACGCCCCCTCCTAGCCGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGAGGGAGGCCAGGCGAGAAAGGCTCCGGGAGGCACAGGGCCTGGGGCTGTGGGGGGAGCGTGGGGGGCTGCGGGGGGAAGGGGACGCTCCTAGACCTCCACTCCAGCTCCTGGCCCTGGGCATTACTGCTCCCCCCACAAGGCAGGACAATGAAGGGGGGGATGTCCCAGCACACGTGGGAGCCCTCCCCTCCCTGCCTCAATTCCCTTCCCTGCACCCCTGTGGGCACCGCCTTTCAGGAGACTCCCGCACTCAGCCCCAAAGGAGGCCAGGCCCGCCAAGCAGGAGAGAGGTGCGGGCGCCAGGCTTGCAGGCAGCAGCCTGAGGGTGCTTGGGTCGCCCCTGCCTCCTGGGGATGGGACTGGTCCCGCTGTCCTGCAGCCTGCGTGGCACCGTGAGGCTCCTCACTTGCGCCTAGACCCGCCGTCCAGCCCTGGGTGGTCCCAGGGGAGAGCGCACAGGGCTCGGGTTCGGGTTCAGCTACATTTCCCCCGGCCCCCCGCGTCACCCCGCGCTGTTGCCTCCCACAGAACCTGGCTCCTGGTGCAGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGTGAGTGAGCGTGGTCGGCGGGGAGGCCTGAACCCACACCCACACCCTACACCCCACCCCACACTCCCCACCCACATCATACAGCCCACAACCACACCCCACCCACACCCCACACTCCCACCCACACCTTGCACCCCACCCCACACCCATGCCCTGCACCCACACCCTACACTCCACAGCCACACTCCACCACACCCCCACCCACACCCTACTCCCCACCTCATACCCTGCACCTCACCACACTCCACAGCCACACCCCACCCCACACCCCACACTCCCACCCACACCCTACACCCACCCCACACCCTACACCCAACCCAAACCCACCCAAACCCACCACTCCCACTCTCCACCCACACCCACACCCCTTCCTCACACCCCACACCCCCATCCCCCACTCACCACCCACGCCCACACCCCACACCCCATACCCCGGAGGTGGCACTCCTGCTCCCCCCCAGGGCTGGCAGCCCCTCATCCTCTGCTGCAGGACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGTGACCCCAGCCCCTGTGGAGGGGGTGCTGGCCCCCAGCCCCGCCCGCCTGGCCCCTGGGCCTGCCAAGGTCAGTGCCGCAGGGGCCCTCCATGCATGCCGGTGCTGGGGGTGGGGAACCCCTTGGGTTGGTGTTGGGGGAGCACATCTCAGGGCAGACCCTGGGTGCCAGCTTCGAGGGCTTGCACCAGACGCACTGACCATGTGCTCATTATCTGTAGAAAATATTTCCCCTTTAAACCAATTCTTTTTGGCAACTTAAATATAGTTAAAAAGGAAGCTCCCCCCGAGGGTTGGTGGCTGACGTCACGGTTGGCTGTGTGGCCGCCTCACAGCATGAGCCTGAGAGTCCTGCCAGGGCTCCCTGGTGGGGTGAAGGGAGAGCGGGAGCGCCCGGCCTGCAGGAGCAAACCCCCACCCTGTCTGACCCCTCCAGGTTGTCTCACCCCCAGCCCTCCCTGGGGCCAGGATCCACCCCACTGTGTGGCCAGAGCCCTCTCAGAGAGGCAAAGTGACCCCGGGTCCAGCCAGTAGCTCTTCCTGTCCTCCTGCTCCGGGGTCAGAGAGGACCTGGGTGGCGCGGAGACCCCTGACTGCTGGGGCGGCTGGGCTTGCCCTGGAGCTGGGTGTGGGGGAGGCCCGAGTCGCTGCTGCAGGAGCCTCCGGGGGGGTGGCCTCTTGCCCTGACCGTCCCCAGCAGAGGCCTCCTGAGCACATCCTGGCCACCGAGGAGCCTTTAGGGATCCTGGGGTGATGACACGTCCCACCTGCTCCACTGGCCCATGCTCTTTCCCAGCTGTGCCTCCGCCCCGTATACACCGTGTGGGTGACAGGCCACCCCGGCGTGGTACTCCCCAGGAGGGTGACAGCCTACCCCAGCGTGGTACTCCCCGGGCAGGTGACAGGCTTCCCCGGCATGCAGGCTCTGGCCTGGCATGGCACAAGCCTCAGACCCAGCCCTGCCCTTGGGGCTTTTGTGGAACAGTGGCGTGGCCCACAGCTGTCACTGTCCCCTTCCTTCTAGAAGCCTCCCTCCTCACACCACCCATCTGGAGTCAGGAGCCCAGCCGGGCATATACGCAGATGCCCCTCCCTAACCCCAGGCAGCTTTCCTGCAACTGCTCCCGCAGCGGGTACCTCGTCATTAACCTCCTGGGTTCTGTCTCTGAACAGCAGAGACCTCTTTCTTGTCATCGTGATGTGAAATGTAACGCCATGTCAGAGGAAAAGTTCTGGCTGGCCTTGGCCTCCCCCCTCAGCCTGCCCCCTTCCTCCAGGGTGGTTGGACGTGGCCCCAGACCCCATCCTGAGCAGCTCTCCCACCCCCTGGGAGCATCCTTAGGACCGGGGAGCATCCAGGGGCTTTCCCCTCCAGACCGGGCAGCCCCTCCCTCAGCCATGCAGGGCTGCCGGGCCTC
|
pathogenic
| 319,961 |
A genetic variant at chromosome 21, position 44294473, affecting gene AIRE (autoimmune regulator)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Polyglandular_autoimmune_syndrome,_type_1']
|
CGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGAGGGAGGCCAGGCGAGAAAGGCTCCGGGAGGCACAGGGCCTGGGGCTGTGGGGGGAGCGTGGGGGGCTGCGGGGGGAAGGGGACGCTCCTAGACCTCCACTCCAGCTCCTGGCCCTGGGCATTACTGCTCCCCCCACAAGGCAGGACAATGAAGGGGGGGATGTCCCAGCACACGTGGGAGCCCTCCCCTCCCTGCCTCAATTCCCTTCCCTGCACCCCTGTGGGCACCGCCTTTCAGGAGACTCCCGCACTCAGCCCCAAAGGAGGCCAGGCCCGCCAAGCAGGAGAGAGGTGCGGGCGCCAGGCTTGCAGGCAGCAGCCTGAGGGTGCTTGGGTCGCCCCTGCCTCCTGGGGATGGGACTGGTCCCGCTGTCCTGCAGCCTGCGTGGCACCGTGAGGCTCCTCACTTGCGCCTAGACCCGCCGTCCAGCCCTGGGTGGTCCCAGGGGAGAGCGCACAGGGCTCGGGTTCGGGTTCAGCTACATTTCCCCCGGCCCCCCGCGTCACCCCGCGCTGTTGCCTCCCACAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGTGAGTGAGCGTGGTCGGCGGGGAGGCCTGAACCCACACCCACACCCTACACCCCACCCCACACTCCCCACCCACATCATACAGCCCACAACCACACCCCACCCACACCCCACACTCCCACCCACACCTTGCACCCCACCCCACACCCATGCCCTGCACCCACACCCTACACTCCACAGCCACACTCCACCACACCCCCACCCACACCCTACTCCCCACCTCATACCCTGCACCTCACCACACTCCACAGCCACACCCCACCCCACACCCCACACTCCCACCCACACCCTACACCCACCCCACACCCTACACCCAACCCAAACCCACCCAAACCCACCACTCCCACTCTCCACCCACACCCACACCCCTTCCTCACACCCCACACCCCCATCCCCCACTCACCACCCACGCCCACACCCCACACCCCATACCCCGGAGGTGGCACTCCTGCTCCCCCCCAGGGCTGGCAGCCCCTCATCCTCTGCTGCAGGACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGTGACCCCAGCCCCTGTGGAGGGGGTGCTGGCCCCCAGCCCCGCCCGCCTGGCCCCTGGGCCTGCCAAGGTCAGTGCCGCAGGGGCCCTCCATGCATGCCGGTGCTGGGGGTGGGGAACCCCTTGGGTTGGTGTTGGGGGAGCACATCTCAGGGCAGACCCTGGGTGCCAGCTTCGAGGGCTTGCACCAGACGCACTGACCATGTGCTCATTATCTGTAGAAAATATTTCCCCTTTAAACCAATTCTTTTTGGCAACTTAAATATAGTTAAAAAGGAAGCTCCCCCCGAGGGTTGGTGGCTGACGTCACGGTTGGCTGTGTGGCCGCCTCACAGCATGAGCCTGAGAGTCCTGCCAGGGCTCCCTGGTGGGGTGAAGGGAGAGCGGGAGCGCCCGGCCTGCAGGAGCAAACCCCCACCCTGTCTGACCCCTCCAGGTTGTCTCACCCCCAGCCCTCCCTGGGGCCAGGATCCACCCCACTGTGTGGCCAGAGCCCTCTCAGAGAGGCAAAGTGACCCCGGGTCCAGCCAGTAGCTCTTCCTGTCCTCCTGCTCCGGGGTCAGAGAGGACCTGGGTGGCGCGGAGACCCCTGACTGCTGGGGCGGCTGGGCTTGCCCTGGAGCTGGGTGTGGGGGAGGCCCGAGTCGCTGCTGCAGGAGCCTCCGGGGGGGTGGCCTCTTGCCCTGACCGTCCCCAGCAGAGGCCTCCTGAGCACATCCTGGCCACCGAGGAGCCTTTAGGGATCCTGGGGTGATGACACGTCCCACCTGCTCCACTGGCCCATGCTCTTTCCCAGCTGTGCCTCCGCCCCGTATACACCGTGTGGGTGACAGGCCACCCCGGCGTGGTACTCCCCAGGAGGGTGACAGCCTACCCCAGCGTGGTACTCCCCGGGCAGGTGACAGGCTTCCCCGGCATGCAGGCTCTGGCCTGGCATGGCACAAGCCTCAGACCCAGCCCTGCCCTTGGGGCTTTTGTGGAACAGTGGCGTGGCCCACAGCTGTCACTGTCCCCTTCCTTCTAGAAGCCTCCCTCCTCACACCACCCATCTGGAGTCAGGAGCCCAGCCGGGCATATACGCAGATGCCCCTCCCTAACCCCAGGCAGCTTTCCTGCAACTGCTCCCGCAGCGGGTACCTCGTCATTAACCTCCTGGGTTCTGTCTCTGAACAGCAGAGACCTCTTTCTTGTCATCGTGATGTGAAATGTAACGCCATGTCAGAGGAAAAGTTCTGGCTGGCCTTGGCCTCCCCCCTCAGCCTGCCCCCTTCCTCCAGGGTGGTTGGACGTGGCCCCAGACCCCATCCTGAGCAGCTCTCCCACCCCCTGGGAGCATCCTTAGGACCGGGGAGCATCCAGGGGCTTTCCCCTCCAGACCGGGCAGCCCCTCCCTCAGCCATGCAGGGCTGCCGGGCCTCGCAGCGCCAGTGTTCACCCGAGTGGAGGAGCTGGGATGTGGCTGTTTGGGGCCACAAATGGGGAATTCCACAGGGTTCAATGTAATATGGTCTCCTCTCTGCTGGGGGTGCCTGCCTGGGGACCTTCTCCCACTCTGGTCGCTCACCTATAGTGTGGGCTGGCCCTGGTGGTGCTTGTCGGGGGCGGGGGTGGCATGGACCAGGCACTTTCCTCTCTGGGCCTCAGACTTCCCCTCTCAGAGTGGGACTCCTTGCTGGTTCCCTGAGCTCCCTCGTTTTCCCCAGGAGGCCACACAGTGTGGAGGCTGTCTGGGGGCCGTGGGCAGCTGGCCGTGGGCAGGACCCTGGGGAGGCAGCCCCAGCCCCATCATGCCCACGCAGCCCTGTGCCCCCACCCCCAGTGGAGCTGGGTGTAAGAATTCCCATCTCAGTGTGGGGGAAACACCCCCGCGGCCCCTAGGCCCTGCGGCCTCTGTACCCCCACCAGGGCTGTGGGAGTTGGGCTGACCTCTTCTCTTTACTGGGTTCCAGGATGACACTGCCAGTCACGAGCCCGCTCTGCACAGGGATGACCTGGAGTCCCTTCTGAGCGAGGTAACGCCTCCCCTGGCCTCCTGGTGCTCCTCCACTCCCCCTCCCCTGCCTCAGCCGGCACCCAGGCTCCCCACT
|
CGGGCCACCCCTCCTGTCCACATGGCCACGCCCCCTCCTAGGCTGGGCCACCCCCTCCTGTCCGTCTGTCCCCTGGAGTCCTGTGGGACAGGACTGCCCCAGCCATAGCACTATGTCCCCCATGCCCAAGCCCGGTCCTTGTGGTCTCCTGCAGTGGAGTCCCCATCATGGTTCCTGTGGGCCTAAACCCAGCTCTCCTGGCTGCGGGTCCACCCCGGGGGGCACTATGAGCATTGATAACGGCCCCGGAAGATGTGTTCCTTGTTCTGCTGCTGTGAGGGTAGTAGGTCTACTGTGCACAGACCCAGTGTTCCCTCTGACAGCCCTGAGGGCCAGGGGGCCCCCCGTGTGTAGACGGGGGAGGAGGGAGGACCACAGAGCCAGGAAGTGCCACAGCCTTTCCCACTCAGTGTGGACGCCTTCCACCATGCCAGCCCTCCGCCCCCACCATGCCAGGCCTCTGCCCCCACCCTGCTGCCCTGGGTTTCAGGGTCCCAGCAGTCACTGACTCCTGGGTGGTGCCGGGCAGGCGCCCGCTGCCCCTCTGATGCTGACCCTTGGGTTCCAGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGGTGAGCGGGGAGTGGGGGTCAGGGTGGGCTCTTCAAGGAGCCCAGGACCTACGGGGCGGATGAATTCACCTGAAACAGGAGGAGAGGGAGGCCAGGCGAGAAAGGCTCCGGGAGGCACAGGGCCTGGGGCTGTGGGGGGAGCGTGGGGGGCTGCGGGGGGAAGGGGACGCTCCTAGACCTCCACTCCAGCTCCTGGCCCTGGGCATTACTGCTCCCCCCACAAGGCAGGACAATGAAGGGGGGGATGTCCCAGCACACGTGGGAGCCCTCCCCTCCCTGCCTCAATTCCCTTCCCTGCACCCCTGTGGGCACCGCCTTTCAGGAGACTCCCGCACTCAGCCCCAAAGGAGGCCAGGCCCGCCAAGCAGGAGAGAGGTGCGGGCGCCAGGCTTGCAGGCAGCAGCCTGAGGGTGCTTGGGTCGCCCCTGCCTCCTGGGGATGGGACTGGTCCCGCTGTCCTGCAGCCTGCGTGGCACCGTGAGGCTCCTCACTTGCGCCTAGACCCGCCGTCCAGCCCTGGGTGGTCCCAGGGGAGAGCGCACAGGGCTCGGGTTCGGGTTCAGCTACATTTCCCCCGGCCCCCCGCGTCACCCCGCGCTGTTGCCTCCCACAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGTGAGTGAGCGTGGTCGGCGGGGAGGCCTGAACCCACACCCACACCCTACACCCCACCCCACACTCCCCACCCACATCATACAGCCCACAACCACACCCCACCCACACCCCACACTCCCACCCACACCTTGCACCCCACCCCACACCCATGCCCTGCACCCACACCCTACACTCCACAGCCACACTCCACCACACCCCCACCCACACCCTACTCCCCACCTCATACCCTGCACCTCACCACACTCCACAGCCACACCCCACCCCACACCCCACACTCCCACCCACACCCTACACCCACCCCACACCCTACACCCAACCCAAACCCACCCAAACCCACCACTCCCACTCTCCACCCACACCCACACCCCTTCCTCACACCCCACACCCCCATCCCCCACTCACCACCCACGCCCACACCCCACACCCCATACCCCGGAGGTGGCACTCCTGCTCCCCCCCAGGGCTGGCAGCCCCTCATCCTCTGCTGCAGGACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGTGACCCCAGCCCCTGTGGAGGGGGTGCTGGCCCCCAGCCCCGCCTGGCCCCTGGGCCTGCCAAGGTCAGTGCCGCAGGGGCCCTCCATGCATGCCGGTGCTGGGGGTGGGGAACCCCTTGGGTTGGTGTTGGGGGAGCACATCTCAGGGCAGACCCTGGGTGCCAGCTTCGAGGGCTTGCACCAGACGCACTGACCATGTGCTCATTATCTGTAGAAAATATTTCCCCTTTAAACCAATTCTTTTTGGCAACTTAAATATAGTTAAAAAGGAAGCTCCCCCCGAGGGTTGGTGGCTGACGTCACGGTTGGCTGTGTGGCCGCCTCACAGCATGAGCCTGAGAGTCCTGCCAGGGCTCCCTGGTGGGGTGAAGGGAGAGCGGGAGCGCCCGGCCTGCAGGAGCAAACCCCCACCCTGTCTGACCCCTCCAGGTTGTCTCACCCCCAGCCCTCCCTGGGGCCAGGATCCACCCCACTGTGTGGCCAGAGCCCTCTCAGAGAGGCAAAGTGACCCCGGGTCCAGCCAGTAGCTCTTCCTGTCCTCCTGCTCCGGGGTCAGAGAGGACCTGGGTGGCGCGGAGACCCCTGACTGCTGGGGCGGCTGGGCTTGCCCTGGAGCTGGGTGTGGGGGAGGCCCGAGTCGCTGCTGCAGGAGCCTCCGGGGGGGTGGCCTCTTGCCCTGACCGTCCCCAGCAGAGGCCTCCTGAGCACATCCTGGCCACCGAGGAGCCTTTAGGGATCCTGGGGTGATGACACGTCCCACCTGCTCCACTGGCCCATGCTCTTTCCCAGCTGTGCCTCCGCCCCGTATACACCGTGTGGGTGACAGGCCACCCCGGCGTGGTACTCCCCAGGAGGGTGACAGCCTACCCCAGCGTGGTACTCCCCGGGCAGGTGACAGGCTTCCCCGGCATGCAGGCTCTGGCCTGGCATGGCACAAGCCTCAGACCCAGCCCTGCCCTTGGGGCTTTTGTGGAACAGTGGCGTGGCCCACAGCTGTCACTGTCCCCTTCCTTCTAGAAGCCTCCCTCCTCACACCACCCATCTGGAGTCAGGAGCCCAGCCGGGCATATACGCAGATGCCCCTCCCTAACCCCAGGCAGCTTTCCTGCAACTGCTCCCGCAGCGGGTACCTCGTCATTAACCTCCTGGGTTCTGTCTCTGAACAGCAGAGACCTCTTTCTTGTCATCGTGATGTGAAATGTAACGCCATGTCAGAGGAAAAGTTCTGGCTGGCCTTGGCCTCCCCCCTCAGCCTGCCCCCTTCCTCCAGGGTGGTTGGACGTGGCCCCAGACCCCATCCTGAGCAGCTCTCCCACCCCCTGGGAGCATCCTTAGGACCGGGGAGCATCCAGGGGCTTTCCCCTCCAGACCGGGCAGCCCCTCCCTCAGCCATGCAGGGCTGCCGGGCCTCGCAGCGCCAGTGTTCACCCGAGTGGAGGAGCTGGGATGTGGCTGTTTGGGGCCACAAATGGGGAATTCCACAGGGTTCAATGTAATATGGTCTCCTCTCTGCTGGGGGTGCCTGCCTGGGGACCTTCTCCCACTCTGGTCGCTCACCTATAGTGTGGGCTGGCCCTGGTGGTGCTTGTCGGGGGCGGGGGTGGCATGGACCAGGCACTTTCCTCTCTGGGCCTCAGACTTCCCCTCTCAGAGTGGGACTCCTTGCTGGTTCCCTGAGCTCCCTCGTTTTCCCCAGGAGGCCACACAGTGTGGAGGCTGTCTGGGGGCCGTGGGCAGCTGGCCGTGGGCAGGACCCTGGGGAGGCAGCCCCAGCCCCATCATGCCCACGCAGCCCTGTGCCCCCACCCCCAGTGGAGCTGGGTGTAAGAATTCCCATCTCAGTGTGGGGGAAACACCCCCGCGGCCCCTAGGCCCTGCGGCCTCTGTACCCCCACCAGGGCTGTGGGAGTTGGGCTGACCTCTTCTCTTTACTGGGTTCCAGGATGACACTGCCAGTCACGAGCCCGCTCTGCACAGGGATGACCTGGAGTCCCTTCTGAGCGAGGTAACGCCTCCCCTGGCCTCCTGGTGCTCCTCCACTCCCCCTCCCCTGCCTCAGCCGGCACCCAGGCTCCCCACTNNNN
|
pathogenic
| 319,972 |
Gene CFAP410 (cilia and flagella associated protein 410) variant at chromosome position 44331894 on chromosome 21: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Retinal_dystrophy']
|
GGAAGACTGTCACAACCATGCCTTGGGAAACGTCACCTCCAGATCAACCTTGGGAAAATCTTTTATTAGGGAGGACAGCCTGCAAAATCCTCCCTTTAAGAGCCCAGGCCAGCCTAGAACCTCCAGACCACAGAAGGGGAGTCCTGGGGACAGGACTGGTGTAGACAGGCATCTCCACCGCCCCGGTTAGCCAGTACCTAACACCCACTCCTGCCCTCGGCCGATGTGGCAAACCGGGGAGGCTTTTGTGTGGGGCCGGGGCTGCGGCCATGGCAGCCACCCTCCAGCTCCCGGGGGCTGGGGAAGACGCTGGGGTCCCCGTGGAGGCTGGAGCGGCGTTCAGGTCCTGCGGTCACTCGGCGTGCTCCTGCACCTCTTCCCCACGCAGGGCCTGCAGCCGGCTGCCCACAGTCTGCTGCACGGCCTCCAGCCCCTCTGCATCCAGCTCCCGCAGCAGCAGCAGGATGGCAGTCAGGACGTTCTGAGGGCAGAGGGGTGCGGACTAAGCCCACCCGGCACGGCGAGGCTGCTTCCCTCCACAAGGGCTGGGGCCTGGCCAGCGGTGCCCCACCACGGAGCGACTGGTCCCGGGGGTGTGGGCCGTCCAAGTGACTGACCGGCACACTCGGAGAATCTGAGCAGAGGAGCCCCGCCTGTGGACGCGTGTGTGGCACCTCTTCCACGTGACTCCTGTTGCCCTCAGCCCAGCAGGGCCCGGGCCCACATTCCACAGACCAGGACAGCAGGAGAGGCTGAGGGGCCAGGACGGCTCCGTGCGGGGCACGTGTTACACGTGTGTGCGCATTCACAGACCCGCACACGCAGCTCCCCCTGGGGCACAGCTCTTCAAGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGTTTCTGTGCAGTGGGTGCAGTGGGCAGAGGCAGCCGCGGCCCCTAGCGGCCCGCCACTCACCCTGCCCCTGTGGCTGCTCGAGGCATCCCTGGCTGAGAGGGAAGGAAACTGGCCCCGGGAAGGCGGCTTCAGGCCACGTTCATCCTGGGCGCCGCTGCTGAGAGGGAGACAAAGGCGTGTGAGGGTCAGGGGGCTCGTGGCACCGGGGGGGCCTCTGCAAACCCTGTCTGCGGGTCGCATCCAAGCAAAGGAGGGGCTCATACAAATCCCACCTGGCACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGCTTCTGTCAAATGCGTTCGTGACCCGCTGCCAACTGCCCTGGGAGGCGCCGGCGTCTCACTGCAGAGTCAGCCCTGTGGCCCCTCCACGGCCCCCAGGCCCAAGGCCATACGGGCACTGATGGCCGTGCCCACAAACCATTCCAGTCACTGTGGCCCTAGGCCACCCCCCCCACCAGGGGCTCCCTGCACCTCACGAGCTCTGGTGCTGTGAGCCTTCTCTGTGCCAGGGCACGGGGCCTGGCTCACCCCCTCTCCTGCTCCCTGGCACATCCGCTGTTGGGCAAAACATGGACCTGCCACTGAAATCACTACCTGGGCACTGAGTCACTCCCAGAGAATATGGATGAGAACAGACACTCCCCCCGGATAATCCCTGTCCCTCACTTCCCAGAGACGCAGCTCACGGGAAGCCCCATTCACTCCCCGTGGGAGGACCCTGGGGGACAGGGATGGGCTGCGGAGTCCCCGCTGCCCTCCAGCCTCACGTTGCCTCCTCCTCGCTGTCCAGCGGGTCCCGGCCAGTCTCAGCAGCGGAGCTGAGGGAGCTCAGTGTGCAGCATAGCTTGGGGCCGCCGTGGCCTGTGCCCTCTCTCTCTGGGGCCGCAGTGATCTCCTCTCCCTCACTCAGTGCACGGGACAGCTCCTCCTCCGTCACAGCTTTGGGATGAAAGACAGAAGACAGCATGAGTGGCCTCACCCACGTGCAGGCCACATGCACTGCAGCTCCCGTCCTCACTGTGGCTTCAGGCACAGTCTGCTTGTGAAATGCATGCACGTGTATCCACCTCCAGGGACAACTCCCAGAGTAGCAGCCGGTTCCTCACTGTCCCATCCCCAGCCTGGCACAGGCTGACACACAACAGATGGTGGAGGGCTGCTCAGGAATCTCAACACCAGCCTTGGCCAGAAGCAAATACTCCTCAAAACCTCAACTAAGACACAATAGAAAAAGGAACAGACCATATTGAATTTATTCCATTTCTCTCATATATCAATTTCCCTGAAGTTTATATTATTAATATCAATAAAATTGTCTGGGAGAAAATAGTGGTGTCTGTATACCTGACAAGGATGAGACACTAGTGTGCTGAGAATGCCAAGGATGAACAAACAGCATGAAACCACAGCCTGGAAAACTGTGTCGGTGCTGGCGCTGGCTAGAGGAGGCACGAGTGCCTCCAATAGGTGGAGCGCAGCAGCAGGCACTGCGGTGCTGGGACGGCCCCTCCCCACGGCAGGGGCGCGATGGCACCGCCACCCTAGGTTCACAGTGGCCCGTGGAGCCTGCCCAGTCCCTGTGGACCAGTGCGATGCTGCTTGCCAGATACTGACGCCCCCGCTCGCCATGGCGCATGGCGATGGTCAGAGCAGGGCTGCTACTCACAGAAGCAAAAGAAGGAACCCTTTTGCTTTGCTACCAGGTCCTGCGGTCGTTGGGGGATACCCAAACTGTCAGTCCCAGGAGGGACCCTACGCTGCGCTGCTGCATTCGGGTGGCGGGATCAAGAGGAGACACAGAAGCCAGGGGAACAGCCTCTGGAGGAGACTTCACAGGACACATCTATGTCCCGCCAGACCAGGTATTTGCAGAAAAGGAGAAGAGAAAAGAGGGCTGGGGACATCCCCTTCCAGGGATTGTTTTGGGAGGGCCGGTGACTCCGCTGCGGCCACCTACCCTGGTTGTCCAGCTTCTGTAGGCGCGGCAGGGTGCGCAGCACGGTCATGCGGTAGCGGTGGGGGCTGGTGCCGCAGCACGGGTTCTCGGCCAGCCACAGCACCCGCAGACGCGGCAGCCCCTTCAGGTAGAAGAGCTCAGCCAGGCTGGGGATGCGGTTCCTCCGCAGGTACAGCTCACTCAGGCGCTGGCACCGGCTCACAGGCTCCAGGGTGGAGATGCTGTTGACACTGCACGGAGACCAGCACAGTCAGCGAGGGACGTGGCCAGGGCCCCCAGGGCCACCTCTCAATCCCCACCCCCAGTAAAAGGCACTCATGGGACCTGTGTCCCTGCCCTCTCCTGAGAAGCCTAAATCGGATGTCACAAGTCACGTGCAGCAGGACCTGGGCCGAGGAGAGAGCTGTAGGAAGGCCAGGCCCTGAACTCAAAGGCGGACTGGGGTGGACCCCACCAGCAACAGCCCCTTGGCCCGACGCTCCACATCAGCTCCTCAGGGCGCTAGAGTGCGGGAGGTGGGGGATGTGGCCCTCCTTCACAGGTGAGGAAAATTAAGGCCTCTCAGGGGACATATCATGTTGCCCCAAAGCAGGGAGCGGCCAGAAAAACTCATGGCAAAAACTAGGAGCCAGCTCCACGTGACATGGGAGTGAGCACGGACCTTCCAAACCCCCACTTGAGGGCGGCAACACTGGGGATGGGCCTCATTTCCATTCTACAGAACGTGGACGCGTCAGAGAAGAGAAACAGCAGGCCTGGAGCGGGGACCTGCAGGCTTTACCCTGCAGCGTGGGGTCCGTCCCCTCCACAAGCGAACACGCGGAGCCGCTCCCGCAGGCCCTCAAAGGCGCGGAGCCAGGGCCCCCTGCCTGGAGGGCTGCACTCGCGTCCGGCAGGCGCCTCAGAAGG
|
GGAAGACTGTCACAACCATGCCTTGGGAAACGTCACCTCCAGATCAACCTTGGGAAAATCTTTTATTAGGGAGGACAGCCTGCAAAATCCTCCCTTTAAGAGCCCAGGCCAGCCTAGAACCTCCAGACCACAGAAGGGGAGTCCTGGGGACAGGACTGGTGTAGACAGGCATCTCCACCGCCCCGGTTAGCCAGTACCTAACACCCACTCCTGCCCTCGGCCGATGTGGCAAACCGGGGAGGCTTTTGTGTGGGGCCGGGGCTGCGGCCATGGCAGCCACCCTCCAGCTCCCGGGGGCTGGGGAAGACGCTGGGGTCCCCGTGGAGGCTGGAGCGGCGTTCAGGTCCTGCGGTCACTCGGCGTGCTCCTGCACCTCTTCCCCACGCAGGGCCTGCAGCCGGCTGCCCACAGTCTGCTGCACGGCCTCCAGCCCCTCTGCATCCAGCTCCCGCAGCAGCAGCAGGATGGCAGTCAGGACGTTCTGAGGGCAGAGGGGTGCGGACTAAGCCCACCCGGCACGGCGAGGCTGCTTCCCTCCACAAGGGCTGGGGCCTGGCCAGCGGTGCCCCACCACGGAGCGACTGGTCCCGGGGGTGTGGGCCGTCCAAGTGACTGACCGGCACACTCGGAGAATCTGAGCAGAGGAGCCCCGCCTGTGGACGCGTGTGTGGCACCTCTTCCACGTGACTCCTGTTGCCCTCAGCCCAGCAGGGCCCGGGCCCACATTCCACAGACCAGGACAGCAGGAGAGGCTGAGGGGCCAGGACGGCTCCGTGCGGGGCACGTGTTACACGTGTGTGCGCATTCACAGACCCGCACACGCAGCTCCCCCTGGGGCACAGCTCTTCAAGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGTTTCTGTGCAGTGGGTGCAGTGGGCAGAGGCAGCCGCGGCCCCTAGCGGCCCGCCACTCACCCTGCCCCTGTGGCTGCTCGAGGCATCCCTGGCTGAGAGGGAAGGAAACTGGCCCCGGGAAGGCGGCTTCAGGCCACGTTCATCCTGGGCGCCGCTGCTGAGAGGGAGACAAAGGCGTGTGAGGGTCAGGGGGCTCGTGGCACCGGGGGGGCCTCTGCAAACCCTGTCTGCGGGTCGCATCCAAGCAAAGGAGGGGCTCATACAAATCCCACCTGGCACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGCTTCTGTCAAATGCGTTCGTGACCCGCTGCCAACTGCCCTGGGAGGCGCCGGCGTCTCACTGCAGAGTCAGCCCTGTGGCCCCTCCACGGCCCCCAGGCCCAAGGCCATACGGGCACTGATGGCCGTGCCCACAAACCATTCCAGTCACTGTGGCCCTAGGCCACCCCCCCCACCAGGGGCTCCCTGCACCTCACGAGCTCTGGTGCTGTGAGCCTTCTCTGTGCCAGGGCACGGGGCCTGGCTCACCCCCTCTCCTGCTCCCTGGCACATCCGCTGTTGGGCAAAACATGGACCTGCCACTGAAATCACTACCTGGGCACTGAGTCACTCCCAGAGAATATGGATGAGAACAGACACTCCCCCCGGATAATCCCTGTCCCTCACTTCCCAGAGACGCAGCTCACGGGAAGCCCCATTCACTCCCCGTGGGAGGACCCTGGGGGACAGGGATGGGCTGCGGAGTCCCCGCTGCCCTCCAGCCTCACGTTGCCTCCTCCTCGCTGTCCAGCGGGTCCCGGCCAGTCTCAGCAGCGGAGCGAGGGAGCTCAGTGTGCAGCATAGCTTGGGGCCGCCGTGGCCTGTGCCCTCTCTCTCTGGGGCCGCAGTGATCTCCTCTCCCTCACTCAGTGCACGGGACAGCTCCTCCTCCGTCACAGCTTTGGGATGAAAGACAGAAGACAGCATGAGTGGCCTCACCCACGTGCAGGCCACATGCACTGCAGCTCCCGTCCTCACTGTGGCTTCAGGCACAGTCTGCTTGTGAAATGCATGCACGTGTATCCACCTCCAGGGACAACTCCCAGAGTAGCAGCCGGTTCCTCACTGTCCCATCCCCAGCCTGGCACAGGCTGACACACAACAGATGGTGGAGGGCTGCTCAGGAATCTCAACACCAGCCTTGGCCAGAAGCAAATACTCCTCAAAACCTCAACTAAGACACAATAGAAAAAGGAACAGACCATATTGAATTTATTCCATTTCTCTCATATATCAATTTCCCTGAAGTTTATATTATTAATATCAATAAAATTGTCTGGGAGAAAATAGTGGTGTCTGTATACCTGACAAGGATGAGACACTAGTGTGCTGAGAATGCCAAGGATGAACAAACAGCATGAAACCACAGCCTGGAAAACTGTGTCGGTGCTGGCGCTGGCTAGAGGAGGCACGAGTGCCTCCAATAGGTGGAGCGCAGCAGCAGGCACTGCGGTGCTGGGACGGCCCCTCCCCACGGCAGGGGCGCGATGGCACCGCCACCCTAGGTTCACAGTGGCCCGTGGAGCCTGCCCAGTCCCTGTGGACCAGTGCGATGCTGCTTGCCAGATACTGACGCCCCCGCTCGCCATGGCGCATGGCGATGGTCAGAGCAGGGCTGCTACTCACAGAAGCAAAAGAAGGAACCCTTTTGCTTTGCTACCAGGTCCTGCGGTCGTTGGGGGATACCCAAACTGTCAGTCCCAGGAGGGACCCTACGCTGCGCTGCTGCATTCGGGTGGCGGGATCAAGAGGAGACACAGAAGCCAGGGGAACAGCCTCTGGAGGAGACTTCACAGGACACATCTATGTCCCGCCAGACCAGGTATTTGCAGAAAAGGAGAAGAGAAAAGAGGGCTGGGGACATCCCCTTCCAGGGATTGTTTTGGGAGGGCCGGTGACTCCGCTGCGGCCACCTACCCTGGTTGTCCAGCTTCTGTAGGCGCGGCAGGGTGCGCAGCACGGTCATGCGGTAGCGGTGGGGGCTGGTGCCGCAGCACGGGTTCTCGGCCAGCCACAGCACCCGCAGACGCGGCAGCCCCTTCAGGTAGAAGAGCTCAGCCAGGCTGGGGATGCGGTTCCTCCGCAGGTACAGCTCACTCAGGCGCTGGCACCGGCTCACAGGCTCCAGGGTGGAGATGCTGTTGACACTGCACGGAGACCAGCACAGTCAGCGAGGGACGTGGCCAGGGCCCCCAGGGCCACCTCTCAATCCCCACCCCCAGTAAAAGGCACTCATGGGACCTGTGTCCCTGCCCTCTCCTGAGAAGCCTAAATCGGATGTCACAAGTCACGTGCAGCAGGACCTGGGCCGAGGAGAGAGCTGTAGGAAGGCCAGGCCCTGAACTCAAAGGCGGACTGGGGTGGACCCCACCAGCAACAGCCCCTTGGCCCGACGCTCCACATCAGCTCCTCAGGGCGCTAGAGTGCGGGAGGTGGGGGATGTGGCCCTCCTTCACAGGTGAGGAAAATTAAGGCCTCTCAGGGGACATATCATGTTGCCCCAAAGCAGGGAGCGGCCAGAAAAACTCATGGCAAAAACTAGGAGCCAGCTCCACGTGACATGGGAGTGAGCACGGACCTTCCAAACCCCCACTTGAGGGCGGCAACACTGGGGATGGGCCTCATTTCCATTCTACAGAACGTGGACGCGTCAGAGAAGAGAAACAGCAGGCCTGGAGCGGGGACCTGCAGGCTTTACCCTGCAGCGTGGGGTCCGTCCCCTCCACAAGCGAACACGCGGAGCCGCTCCCGCAGGCCCTCAAAGGCGCGGAGCCAGGGCCCCCTGCCTGGAGGGCTGCACTCGCGTCCGGCAGGCGCCTCAGAAGGN
|
pathogenic
| 320,011 |
Chromosome 21, position 44331943, gene CFAP410 (cilia and flagella associated protein 410): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic
|
TTGGGAAAATCTTTTATTAGGGAGGACAGCCTGCAAAATCCTCCCTTTAAGAGCCCAGGCCAGCCTAGAACCTCCAGACCACAGAAGGGGAGTCCTGGGGACAGGACTGGTGTAGACAGGCATCTCCACCGCCCCGGTTAGCCAGTACCTAACACCCACTCCTGCCCTCGGCCGATGTGGCAAACCGGGGAGGCTTTTGTGTGGGGCCGGGGCTGCGGCCATGGCAGCCACCCTCCAGCTCCCGGGGGCTGGGGAAGACGCTGGGGTCCCCGTGGAGGCTGGAGCGGCGTTCAGGTCCTGCGGTCACTCGGCGTGCTCCTGCACCTCTTCCCCACGCAGGGCCTGCAGCCGGCTGCCCACAGTCTGCTGCACGGCCTCCAGCCCCTCTGCATCCAGCTCCCGCAGCAGCAGCAGGATGGCAGTCAGGACGTTCTGAGGGCAGAGGGGTGCGGACTAAGCCCACCCGGCACGGCGAGGCTGCTTCCCTCCACAAGGGCTGGGGCCTGGCCAGCGGTGCCCCACCACGGAGCGACTGGTCCCGGGGGTGTGGGCCGTCCAAGTGACTGACCGGCACACTCGGAGAATCTGAGCAGAGGAGCCCCGCCTGTGGACGCGTGTGTGGCACCTCTTCCACGTGACTCCTGTTGCCCTCAGCCCAGCAGGGCCCGGGCCCACATTCCACAGACCAGGACAGCAGGAGAGGCTGAGGGGCCAGGACGGCTCCGTGCGGGGCACGTGTTACACGTGTGTGCGCATTCACAGACCCGCACACGCAGCTCCCCCTGGGGCACAGCTCTTCAAGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGTTTCTGTGCAGTGGGTGCAGTGGGCAGAGGCAGCCGCGGCCCCTAGCGGCCCGCCACTCACCCTGCCCCTGTGGCTGCTCGAGGCATCCCTGGCTGAGAGGGAAGGAAACTGGCCCCGGGAAGGCGGCTTCAGGCCACGTTCATCCTGGGCGCCGCTGCTGAGAGGGAGACAAAGGCGTGTGAGGGTCAGGGGGCTCGTGGCACCGGGGGGGCCTCTGCAAACCCTGTCTGCGGGTCGCATCCAAGCAAAGGAGGGGCTCATACAAATCCCACCTGGCACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGCTTCTGTCAAATGCGTTCGTGACCCGCTGCCAACTGCCCTGGGAGGCGCCGGCGTCTCACTGCAGAGTCAGCCCTGTGGCCCCTCCACGGCCCCCAGGCCCAAGGCCATACGGGCACTGATGGCCGTGCCCACAAACCATTCCAGTCACTGTGGCCCTAGGCCACCCCCCCCACCAGGGGCTCCCTGCACCTCACGAGCTCTGGTGCTGTGAGCCTTCTCTGTGCCAGGGCACGGGGCCTGGCTCACCCCCTCTCCTGCTCCCTGGCACATCCGCTGTTGGGCAAAACATGGACCTGCCACTGAAATCACTACCTGGGCACTGAGTCACTCCCAGAGAATATGGATGAGAACAGACACTCCCCCCGGATAATCCCTGTCCCTCACTTCCCAGAGACGCAGCTCACGGGAAGCCCCATTCACTCCCCGTGGGAGGACCCTGGGGGACAGGGATGGGCTGCGGAGTCCCCGCTGCCCTCCAGCCTCACGTTGCCTCCTCCTCGCTGTCCAGCGGGTCCCGGCCAGTCTCAGCAGCGGAGCTGAGGGAGCTCAGTGTGCAGCATAGCTTGGGGCCGCCGTGGCCTGTGCCCTCTCTCTCTGGGGCCGCAGTGATCTCCTCTCCCTCACTCAGTGCACGGGACAGCTCCTCCTCCGTCACAGCTTTGGGATGAAAGACAGAAGACAGCATGAGTGGCCTCACCCACGTGCAGGCCACATGCACTGCAGCTCCCGTCCTCACTGTGGCTTCAGGCACAGTCTGCTTGTGAAATGCATGCACGTGTATCCACCTCCAGGGACAACTCCCAGAGTAGCAGCCGGTTCCTCACTGTCCCATCCCCAGCCTGGCACAGGCTGACACACAACAGATGGTGGAGGGCTGCTCAGGAATCTCAACACCAGCCTTGGCCAGAAGCAAATACTCCTCAAAACCTCAACTAAGACACAATAGAAAAAGGAACAGACCATATTGAATTTATTCCATTTCTCTCATATATCAATTTCCCTGAAGTTTATATTATTAATATCAATAAAATTGTCTGGGAGAAAATAGTGGTGTCTGTATACCTGACAAGGATGAGACACTAGTGTGCTGAGAATGCCAAGGATGAACAAACAGCATGAAACCACAGCCTGGAAAACTGTGTCGGTGCTGGCGCTGGCTAGAGGAGGCACGAGTGCCTCCAATAGGTGGAGCGCAGCAGCAGGCACTGCGGTGCTGGGACGGCCCCTCCCCACGGCAGGGGCGCGATGGCACCGCCACCCTAGGTTCACAGTGGCCCGTGGAGCCTGCCCAGTCCCTGTGGACCAGTGCGATGCTGCTTGCCAGATACTGACGCCCCCGCTCGCCATGGCGCATGGCGATGGTCAGAGCAGGGCTGCTACTCACAGAAGCAAAAGAAGGAACCCTTTTGCTTTGCTACCAGGTCCTGCGGTCGTTGGGGGATACCCAAACTGTCAGTCCCAGGAGGGACCCTACGCTGCGCTGCTGCATTCGGGTGGCGGGATCAAGAGGAGACACAGAAGCCAGGGGAACAGCCTCTGGAGGAGACTTCACAGGACACATCTATGTCCCGCCAGACCAGGTATTTGCAGAAAAGGAGAAGAGAAAAGAGGGCTGGGGACATCCCCTTCCAGGGATTGTTTTGGGAGGGCCGGTGACTCCGCTGCGGCCACCTACCCTGGTTGTCCAGCTTCTGTAGGCGCGGCAGGGTGCGCAGCACGGTCATGCGGTAGCGGTGGGGGCTGGTGCCGCAGCACGGGTTCTCGGCCAGCCACAGCACCCGCAGACGCGGCAGCCCCTTCAGGTAGAAGAGCTCAGCCAGGCTGGGGATGCGGTTCCTCCGCAGGTACAGCTCACTCAGGCGCTGGCACCGGCTCACAGGCTCCAGGGTGGAGATGCTGTTGACACTGCACGGAGACCAGCACAGTCAGCGAGGGACGTGGCCAGGGCCCCCAGGGCCACCTCTCAATCCCCACCCCCAGTAAAAGGCACTCATGGGACCTGTGTCCCTGCCCTCTCCTGAGAAGCCTAAATCGGATGTCACAAGTCACGTGCAGCAGGACCTGGGCCGAGGAGAGAGCTGTAGGAAGGCCAGGCCCTGAACTCAAAGGCGGACTGGGGTGGACCCCACCAGCAACAGCCCCTTGGCCCGACGCTCCACATCAGCTCCTCAGGGCGCTAGAGTGCGGGAGGTGGGGGATGTGGCCCTCCTTCACAGGTGAGGAAAATTAAGGCCTCTCAGGGGACATATCATGTTGCCCCAAAGCAGGGAGCGGCCAGAAAAACTCATGGCAAAAACTAGGAGCCAGCTCCACGTGACATGGGAGTGAGCACGGACCTTCCAAACCCCCACTTGAGGGCGGCAACACTGGGGATGGGCCTCATTTCCATTCTACAGAACGTGGACGCGTCAGAGAAGAGAAACAGCAGGCCTGGAGCGGGGACCTGCAGGCTTTACCCTGCAGCGTGGGGTCCGTCCCCTCCACAAGCGAACACGCGGAGCCGCTCCCGCAGGCCCTCAAAGGCGCGGAGCCAGGGCCCCCTGCCTGGAGGGCTGCACTCGCGTCCGGCAGGCGCCTCAGAAGGGCGGTCACCAGGCCCCCATGGGCAGCCTGCCGTCCTGAGCCCCCCTCCC
|
TTGGGAAAATCTTTTATTAGGGAGGACAGCCTGCAAAATCCTCCCTTTAAGAGCCCAGGCCAGCCTAGAACCTCCAGACCACAGAAGGGGAGTCCTGGGGACAGGACTGGTGTAGACAGGCATCTCCACCGCCCCGGTTAGCCAGTACCTAACACCCACTCCTGCCCTCGGCCGATGTGGCAAACCGGGGAGGCTTTTGTGTGGGGCCGGGGCTGCGGCCATGGCAGCCACCCTCCAGCTCCCGGGGGCTGGGGAAGACGCTGGGGTCCCCGTGGAGGCTGGAGCGGCGTTCAGGTCCTGCGGTCACTCGGCGTGCTCCTGCACCTCTTCCCCACGCAGGGCCTGCAGCCGGCTGCCCACAGTCTGCTGCACGGCCTCCAGCCCCTCTGCATCCAGCTCCCGCAGCAGCAGCAGGATGGCAGTCAGGACGTTCTGAGGGCAGAGGGGTGCGGACTAAGCCCACCCGGCACGGCGAGGCTGCTTCCCTCCACAAGGGCTGGGGCCTGGCCAGCGGTGCCCCACCACGGAGCGACTGGTCCCGGGGGTGTGGGCCGTCCAAGTGACTGACCGGCACACTCGGAGAATCTGAGCAGAGGAGCCCCGCCTGTGGACGCGTGTGTGGCACCTCTTCCACGTGACTCCTGTTGCCCTCAGCCCAGCAGGGCCCGGGCCCACATTCCACAGACCAGGACAGCAGGAGAGGCTGAGGGGCCAGGACGGCTCCGTGCGGGGCACGTGTTACACGTGTGTGCGCATTCACAGACCCGCACACGCAGCTCCCCCTGGGGCACAGCTCTTCAAGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGTTTCTGTGCAGTGGGTGCAGTGGGCAGAGGCAGCCGCGGCCCCTAGCGGCCCGCCACTCACCCTGCCCCTGTGGCTGCTCGAGGCATCCCTGGCTGAGAGGGAAGGAAACTGGCCCCGGGAAGGCGGCTTCAGGCCACGTTCATCCTGGGCGCCGCTGCTGAGAGGGAGACAAAGGCGTGTGAGGGTCAGGGGGCTCGTGGCACCGGGGGGGCCTCTGCAAACCCTGTCTGCGGGTCGCATCCAAGCAAAGGAGGGGCTCATACAAATCCCACCTGGCACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGCTTCTGTCAAATGCGTTCGTGACCCGCTGCCAACTGCCCTGGGAGGCGCCGGCGTCTCACTGCAGAGTCAGCCCTGTGGCCCCTCCACGGCCCCCAGGCCCAAGGCCATACGGGCACTGATGGCCGTGCCCACAAACCATTCCAGTCACTGTGGCCCTAGGCCACCCCCCCCACCAGGGGCTCCCTGCACCTCACGAGCTCTGGTGCTGTGAGCCTTCTCTGTGCCAGGGCACGGGGCCTGGCTCACCCCCTCTCCTGCTCCCTGGCACATCCGCTGTTGGGCAAAACATGGACCTGCCACTGAAATCACTACCTGGGCACTGAGTCACTCCCAGAGAATATGGATGAGAACAGACACTCCCCCCGGATAATCCCTGTCCCTCACTTCCCAGAGACGCAGCTCACGGGAAGCCCCATTCACTCCCCGTGGGAGGACCCTGGGGGACAGGGATGGGCTGCGGAGTCCCCGCTGCCCTCCAGCCTCACGTTGCCTCCTCCTCGCTGTCCAGCGGGTCCCGGCCAGTCTCAGCAGCGGAGCTGAGGGAGCTCAGTGTGCAGCATAGCTTGGGGCCGCCGTGGCCTGTGCCCTCTCTCTGGGGCCGCAGTGATCTCCTCTCCCTCACTCAGTGCACGGGACAGCTCCTCCTCCGTCACAGCTTTGGGATGAAAGACAGAAGACAGCATGAGTGGCCTCACCCACGTGCAGGCCACATGCACTGCAGCTCCCGTCCTCACTGTGGCTTCAGGCACAGTCTGCTTGTGAAATGCATGCACGTGTATCCACCTCCAGGGACAACTCCCAGAGTAGCAGCCGGTTCCTCACTGTCCCATCCCCAGCCTGGCACAGGCTGACACACAACAGATGGTGGAGGGCTGCTCAGGAATCTCAACACCAGCCTTGGCCAGAAGCAAATACTCCTCAAAACCTCAACTAAGACACAATAGAAAAAGGAACAGACCATATTGAATTTATTCCATTTCTCTCATATATCAATTTCCCTGAAGTTTATATTATTAATATCAATAAAATTGTCTGGGAGAAAATAGTGGTGTCTGTATACCTGACAAGGATGAGACACTAGTGTGCTGAGAATGCCAAGGATGAACAAACAGCATGAAACCACAGCCTGGAAAACTGTGTCGGTGCTGGCGCTGGCTAGAGGAGGCACGAGTGCCTCCAATAGGTGGAGCGCAGCAGCAGGCACTGCGGTGCTGGGACGGCCCCTCCCCACGGCAGGGGCGCGATGGCACCGCCACCCTAGGTTCACAGTGGCCCGTGGAGCCTGCCCAGTCCCTGTGGACCAGTGCGATGCTGCTTGCCAGATACTGACGCCCCCGCTCGCCATGGCGCATGGCGATGGTCAGAGCAGGGCTGCTACTCACAGAAGCAAAAGAAGGAACCCTTTTGCTTTGCTACCAGGTCCTGCGGTCGTTGGGGGATACCCAAACTGTCAGTCCCAGGAGGGACCCTACGCTGCGCTGCTGCATTCGGGTGGCGGGATCAAGAGGAGACACAGAAGCCAGGGGAACAGCCTCTGGAGGAGACTTCACAGGACACATCTATGTCCCGCCAGACCAGGTATTTGCAGAAAAGGAGAAGAGAAAAGAGGGCTGGGGACATCCCCTTCCAGGGATTGTTTTGGGAGGGCCGGTGACTCCGCTGCGGCCACCTACCCTGGTTGTCCAGCTTCTGTAGGCGCGGCAGGGTGCGCAGCACGGTCATGCGGTAGCGGTGGGGGCTGGTGCCGCAGCACGGGTTCTCGGCCAGCCACAGCACCCGCAGACGCGGCAGCCCCTTCAGGTAGAAGAGCTCAGCCAGGCTGGGGATGCGGTTCCTCCGCAGGTACAGCTCACTCAGGCGCTGGCACCGGCTCACAGGCTCCAGGGTGGAGATGCTGTTGACACTGCACGGAGACCAGCACAGTCAGCGAGGGACGTGGCCAGGGCCCCCAGGGCCACCTCTCAATCCCCACCCCCAGTAAAAGGCACTCATGGGACCTGTGTCCCTGCCCTCTCCTGAGAAGCCTAAATCGGATGTCACAAGTCACGTGCAGCAGGACCTGGGCCGAGGAGAGAGCTGTAGGAAGGCCAGGCCCTGAACTCAAAGGCGGACTGGGGTGGACCCCACCAGCAACAGCCCCTTGGCCCGACGCTCCACATCAGCTCCTCAGGGCGCTAGAGTGCGGGAGGTGGGGGATGTGGCCCTCCTTCACAGGTGAGGAAAATTAAGGCCTCTCAGGGGACATATCATGTTGCCCCAAAGCAGGGAGCGGCCAGAAAAACTCATGGCAAAAACTAGGAGCCAGCTCCACGTGACATGGGAGTGAGCACGGACCTTCCAAACCCCCACTTGAGGGCGGCAACACTGGGGATGGGCCTCATTTCCATTCTACAGAACGTGGACGCGTCAGAGAAGAGAAACAGCAGGCCTGGAGCGGGGACCTGCAGGCTTTACCCTGCAGCGTGGGGTCCGTCCCCTCCACAAGCGAACACGCGGAGCCGCTCCCGCAGGCCCTCAAAGGCGCGGAGCCAGGGCCCCCTGCCTGGAGGGCTGCACTCGCGTCCGGCAGGCGCCTCAGAAGGGCGGTCACCAGGCCCCCATGGGCAGCCTGCCGTCCTGAGCCCCCCTCCCNN
|
pathogenic
| 320,016 |
Variant at chromosome 21, position 44331943, gene CFAP410 (cilia and flagella associated protein 410): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Retinal_dystrophy', 'Retinal_dystrophy_with_or_without_macular_staphyloma']
|
TTGGGAAAATCTTTTATTAGGGAGGACAGCCTGCAAAATCCTCCCTTTAAGAGCCCAGGCCAGCCTAGAACCTCCAGACCACAGAAGGGGAGTCCTGGGGACAGGACTGGTGTAGACAGGCATCTCCACCGCCCCGGTTAGCCAGTACCTAACACCCACTCCTGCCCTCGGCCGATGTGGCAAACCGGGGAGGCTTTTGTGTGGGGCCGGGGCTGCGGCCATGGCAGCCACCCTCCAGCTCCCGGGGGCTGGGGAAGACGCTGGGGTCCCCGTGGAGGCTGGAGCGGCGTTCAGGTCCTGCGGTCACTCGGCGTGCTCCTGCACCTCTTCCCCACGCAGGGCCTGCAGCCGGCTGCCCACAGTCTGCTGCACGGCCTCCAGCCCCTCTGCATCCAGCTCCCGCAGCAGCAGCAGGATGGCAGTCAGGACGTTCTGAGGGCAGAGGGGTGCGGACTAAGCCCACCCGGCACGGCGAGGCTGCTTCCCTCCACAAGGGCTGGGGCCTGGCCAGCGGTGCCCCACCACGGAGCGACTGGTCCCGGGGGTGTGGGCCGTCCAAGTGACTGACCGGCACACTCGGAGAATCTGAGCAGAGGAGCCCCGCCTGTGGACGCGTGTGTGGCACCTCTTCCACGTGACTCCTGTTGCCCTCAGCCCAGCAGGGCCCGGGCCCACATTCCACAGACCAGGACAGCAGGAGAGGCTGAGGGGCCAGGACGGCTCCGTGCGGGGCACGTGTTACACGTGTGTGCGCATTCACAGACCCGCACACGCAGCTCCCCCTGGGGCACAGCTCTTCAAGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGTTTCTGTGCAGTGGGTGCAGTGGGCAGAGGCAGCCGCGGCCCCTAGCGGCCCGCCACTCACCCTGCCCCTGTGGCTGCTCGAGGCATCCCTGGCTGAGAGGGAAGGAAACTGGCCCCGGGAAGGCGGCTTCAGGCCACGTTCATCCTGGGCGCCGCTGCTGAGAGGGAGACAAAGGCGTGTGAGGGTCAGGGGGCTCGTGGCACCGGGGGGGCCTCTGCAAACCCTGTCTGCGGGTCGCATCCAAGCAAAGGAGGGGCTCATACAAATCCCACCTGGCACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGCTTCTGTCAAATGCGTTCGTGACCCGCTGCCAACTGCCCTGGGAGGCGCCGGCGTCTCACTGCAGAGTCAGCCCTGTGGCCCCTCCACGGCCCCCAGGCCCAAGGCCATACGGGCACTGATGGCCGTGCCCACAAACCATTCCAGTCACTGTGGCCCTAGGCCACCCCCCCCACCAGGGGCTCCCTGCACCTCACGAGCTCTGGTGCTGTGAGCCTTCTCTGTGCCAGGGCACGGGGCCTGGCTCACCCCCTCTCCTGCTCCCTGGCACATCCGCTGTTGGGCAAAACATGGACCTGCCACTGAAATCACTACCTGGGCACTGAGTCACTCCCAGAGAATATGGATGAGAACAGACACTCCCCCCGGATAATCCCTGTCCCTCACTTCCCAGAGACGCAGCTCACGGGAAGCCCCATTCACTCCCCGTGGGAGGACCCTGGGGGACAGGGATGGGCTGCGGAGTCCCCGCTGCCCTCCAGCCTCACGTTGCCTCCTCCTCGCTGTCCAGCGGGTCCCGGCCAGTCTCAGCAGCGGAGCTGAGGGAGCTCAGTGTGCAGCATAGCTTGGGGCCGCCGTGGCCTGTGCCCTCTCTCTCTGGGGCCGCAGTGATCTCCTCTCCCTCACTCAGTGCACGGGACAGCTCCTCCTCCGTCACAGCTTTGGGATGAAAGACAGAAGACAGCATGAGTGGCCTCACCCACGTGCAGGCCACATGCACTGCAGCTCCCGTCCTCACTGTGGCTTCAGGCACAGTCTGCTTGTGAAATGCATGCACGTGTATCCACCTCCAGGGACAACTCCCAGAGTAGCAGCCGGTTCCTCACTGTCCCATCCCCAGCCTGGCACAGGCTGACACACAACAGATGGTGGAGGGCTGCTCAGGAATCTCAACACCAGCCTTGGCCAGAAGCAAATACTCCTCAAAACCTCAACTAAGACACAATAGAAAAAGGAACAGACCATATTGAATTTATTCCATTTCTCTCATATATCAATTTCCCTGAAGTTTATATTATTAATATCAATAAAATTGTCTGGGAGAAAATAGTGGTGTCTGTATACCTGACAAGGATGAGACACTAGTGTGCTGAGAATGCCAAGGATGAACAAACAGCATGAAACCACAGCCTGGAAAACTGTGTCGGTGCTGGCGCTGGCTAGAGGAGGCACGAGTGCCTCCAATAGGTGGAGCGCAGCAGCAGGCACTGCGGTGCTGGGACGGCCCCTCCCCACGGCAGGGGCGCGATGGCACCGCCACCCTAGGTTCACAGTGGCCCGTGGAGCCTGCCCAGTCCCTGTGGACCAGTGCGATGCTGCTTGCCAGATACTGACGCCCCCGCTCGCCATGGCGCATGGCGATGGTCAGAGCAGGGCTGCTACTCACAGAAGCAAAAGAAGGAACCCTTTTGCTTTGCTACCAGGTCCTGCGGTCGTTGGGGGATACCCAAACTGTCAGTCCCAGGAGGGACCCTACGCTGCGCTGCTGCATTCGGGTGGCGGGATCAAGAGGAGACACAGAAGCCAGGGGAACAGCCTCTGGAGGAGACTTCACAGGACACATCTATGTCCCGCCAGACCAGGTATTTGCAGAAAAGGAGAAGAGAAAAGAGGGCTGGGGACATCCCCTTCCAGGGATTGTTTTGGGAGGGCCGGTGACTCCGCTGCGGCCACCTACCCTGGTTGTCCAGCTTCTGTAGGCGCGGCAGGGTGCGCAGCACGGTCATGCGGTAGCGGTGGGGGCTGGTGCCGCAGCACGGGTTCTCGGCCAGCCACAGCACCCGCAGACGCGGCAGCCCCTTCAGGTAGAAGAGCTCAGCCAGGCTGGGGATGCGGTTCCTCCGCAGGTACAGCTCACTCAGGCGCTGGCACCGGCTCACAGGCTCCAGGGTGGAGATGCTGTTGACACTGCACGGAGACCAGCACAGTCAGCGAGGGACGTGGCCAGGGCCCCCAGGGCCACCTCTCAATCCCCACCCCCAGTAAAAGGCACTCATGGGACCTGTGTCCCTGCCCTCTCCTGAGAAGCCTAAATCGGATGTCACAAGTCACGTGCAGCAGGACCTGGGCCGAGGAGAGAGCTGTAGGAAGGCCAGGCCCTGAACTCAAAGGCGGACTGGGGTGGACCCCACCAGCAACAGCCCCTTGGCCCGACGCTCCACATCAGCTCCTCAGGGCGCTAGAGTGCGGGAGGTGGGGGATGTGGCCCTCCTTCACAGGTGAGGAAAATTAAGGCCTCTCAGGGGACATATCATGTTGCCCCAAAGCAGGGAGCGGCCAGAAAAACTCATGGCAAAAACTAGGAGCCAGCTCCACGTGACATGGGAGTGAGCACGGACCTTCCAAACCCCCACTTGAGGGCGGCAACACTGGGGATGGGCCTCATTTCCATTCTACAGAACGTGGACGCGTCAGAGAAGAGAAACAGCAGGCCTGGAGCGGGGACCTGCAGGCTTTACCCTGCAGCGTGGGGTCCGTCCCCTCCACAAGCGAACACGCGGAGCCGCTCCCGCAGGCCCTCAAAGGCGCGGAGCCAGGGCCCCCTGCCTGGAGGGCTGCACTCGCGTCCGGCAGGCGCCTCAGAAGGGCGGTCACCAGGCCCCCATGGGCAGCCTGCCGTCCTGAGCCCCCCTCCC
|
TTGGGAAAATCTTTTATTAGGGAGGACAGCCTGCAAAATCCTCCCTTTAAGAGCCCAGGCCAGCCTAGAACCTCCAGACCACAGAAGGGGAGTCCTGGGGACAGGACTGGTGTAGACAGGCATCTCCACCGCCCCGGTTAGCCAGTACCTAACACCCACTCCTGCCCTCGGCCGATGTGGCAAACCGGGGAGGCTTTTGTGTGGGGCCGGGGCTGCGGCCATGGCAGCCACCCTCCAGCTCCCGGGGGCTGGGGAAGACGCTGGGGTCCCCGTGGAGGCTGGAGCGGCGTTCAGGTCCTGCGGTCACTCGGCGTGCTCCTGCACCTCTTCCCCACGCAGGGCCTGCAGCCGGCTGCCCACAGTCTGCTGCACGGCCTCCAGCCCCTCTGCATCCAGCTCCCGCAGCAGCAGCAGGATGGCAGTCAGGACGTTCTGAGGGCAGAGGGGTGCGGACTAAGCCCACCCGGCACGGCGAGGCTGCTTCCCTCCACAAGGGCTGGGGCCTGGCCAGCGGTGCCCCACCACGGAGCGACTGGTCCCGGGGGTGTGGGCCGTCCAAGTGACTGACCGGCACACTCGGAGAATCTGAGCAGAGGAGCCCCGCCTGTGGACGCGTGTGTGGCACCTCTTCCACGTGACTCCTGTTGCCCTCAGCCCAGCAGGGCCCGGGCCCACATTCCACAGACCAGGACAGCAGGAGAGGCTGAGGGGCCAGGACGGCTCCGTGCGGGGCACGTGTTACACGTGTGTGCGCATTCACAGACCCGCACACGCAGCTCCCCCTGGGGCACAGCTCTTCAAGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGTTTCTGTGCAGTGGGTGCAGTGGGCAGAGGCAGCCGCGGCCCCTAGCGGCCCGCCACTCACCCTGCCCCTGTGGCTGCTCGAGGCATCCCTGGCTGAGAGGGAAGGAAACTGGCCCCGGGAAGGCGGCTTCAGGCCACGTTCATCCTGGGCGCCGCTGCTGAGAGGGAGACAAAGGCGTGTGAGGGTCAGGGGGCTCGTGGCACCGGGGGGGCCTCTGCAAACCCTGTCTGCGGGTCGCATCCAAGCAAAGGAGGGGCTCATACAAATCCCACCTGGCACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGCTTCTGTCAAATGCGTTCGTGACCCGCTGCCAACTGCCCTGGGAGGCGCCGGCGTCTCACTGCAGAGTCAGCCCTGTGGCCCCTCCACGGCCCCCAGGCCCAAGGCCATACGGGCACTGATGGCCGTGCCCACAAACCATTCCAGTCACTGTGGCCCTAGGCCACCCCCCCCACCAGGGGCTCCCTGCACCTCACGAGCTCTGGTGCTGTGAGCCTTCTCTGTGCCAGGGCACGGGGCCTGGCTCACCCCCTCTCCTGCTCCCTGGCACATCCGCTGTTGGGCAAAACATGGACCTGCCACTGAAATCACTACCTGGGCACTGAGTCACTCCCAGAGAATATGGATGAGAACAGACACTCCCCCCGGATAATCCCTGTCCCTCACTTCCCAGAGACGCAGCTCACGGGAAGCCCCATTCACTCCCCGTGGGAGGACCCTGGGGGACAGGGATGGGCTGCGGAGTCCCCGCTGCCCTCCAGCCTCACGTTGCCTCCTCCTCGCTGTCCAGCGGGTCCCGGCCAGTCTCAGCAGCGGAGCTGAGGGAGCTCAGTGTGCAGCATAGCTTGGGGCCGCCGTGGCCTGTGCCCTCTCTGGGGCCGCAGTGATCTCCTCTCCCTCACTCAGTGCACGGGACAGCTCCTCCTCCGTCACAGCTTTGGGATGAAAGACAGAAGACAGCATGAGTGGCCTCACCCACGTGCAGGCCACATGCACTGCAGCTCCCGTCCTCACTGTGGCTTCAGGCACAGTCTGCTTGTGAAATGCATGCACGTGTATCCACCTCCAGGGACAACTCCCAGAGTAGCAGCCGGTTCCTCACTGTCCCATCCCCAGCCTGGCACAGGCTGACACACAACAGATGGTGGAGGGCTGCTCAGGAATCTCAACACCAGCCTTGGCCAGAAGCAAATACTCCTCAAAACCTCAACTAAGACACAATAGAAAAAGGAACAGACCATATTGAATTTATTCCATTTCTCTCATATATCAATTTCCCTGAAGTTTATATTATTAATATCAATAAAATTGTCTGGGAGAAAATAGTGGTGTCTGTATACCTGACAAGGATGAGACACTAGTGTGCTGAGAATGCCAAGGATGAACAAACAGCATGAAACCACAGCCTGGAAAACTGTGTCGGTGCTGGCGCTGGCTAGAGGAGGCACGAGTGCCTCCAATAGGTGGAGCGCAGCAGCAGGCACTGCGGTGCTGGGACGGCCCCTCCCCACGGCAGGGGCGCGATGGCACCGCCACCCTAGGTTCACAGTGGCCCGTGGAGCCTGCCCAGTCCCTGTGGACCAGTGCGATGCTGCTTGCCAGATACTGACGCCCCCGCTCGCCATGGCGCATGGCGATGGTCAGAGCAGGGCTGCTACTCACAGAAGCAAAAGAAGGAACCCTTTTGCTTTGCTACCAGGTCCTGCGGTCGTTGGGGGATACCCAAACTGTCAGTCCCAGGAGGGACCCTACGCTGCGCTGCTGCATTCGGGTGGCGGGATCAAGAGGAGACACAGAAGCCAGGGGAACAGCCTCTGGAGGAGACTTCACAGGACACATCTATGTCCCGCCAGACCAGGTATTTGCAGAAAAGGAGAAGAGAAAAGAGGGCTGGGGACATCCCCTTCCAGGGATTGTTTTGGGAGGGCCGGTGACTCCGCTGCGGCCACCTACCCTGGTTGTCCAGCTTCTGTAGGCGCGGCAGGGTGCGCAGCACGGTCATGCGGTAGCGGTGGGGGCTGGTGCCGCAGCACGGGTTCTCGGCCAGCCACAGCACCCGCAGACGCGGCAGCCCCTTCAGGTAGAAGAGCTCAGCCAGGCTGGGGATGCGGTTCCTCCGCAGGTACAGCTCACTCAGGCGCTGGCACCGGCTCACAGGCTCCAGGGTGGAGATGCTGTTGACACTGCACGGAGACCAGCACAGTCAGCGAGGGACGTGGCCAGGGCCCCCAGGGCCACCTCTCAATCCCCACCCCCAGTAAAAGGCACTCATGGGACCTGTGTCCCTGCCCTCTCCTGAGAAGCCTAAATCGGATGTCACAAGTCACGTGCAGCAGGACCTGGGCCGAGGAGAGAGCTGTAGGAAGGCCAGGCCCTGAACTCAAAGGCGGACTGGGGTGGACCCCACCAGCAACAGCCCCTTGGCCCGACGCTCCACATCAGCTCCTCAGGGCGCTAGAGTGCGGGAGGTGGGGGATGTGGCCCTCCTTCACAGGTGAGGAAAATTAAGGCCTCTCAGGGGACATATCATGTTGCCCCAAAGCAGGGAGCGGCCAGAAAAACTCATGGCAAAAACTAGGAGCCAGCTCCACGTGACATGGGAGTGAGCACGGACCTTCCAAACCCCCACTTGAGGGCGGCAACACTGGGGATGGGCCTCATTTCCATTCTACAGAACGTGGACGCGTCAGAGAAGAGAAACAGCAGGCCTGGAGCGGGGACCTGCAGGCTTTACCCTGCAGCGTGGGGTCCGTCCCCTCCACAAGCGAACACGCGGAGCCGCTCCCGCAGGCCCTCAAAGGCGCGGAGCCAGGGCCCCCTGCCTGGAGGGCTGCACTCGCGTCCGGCAGGCGCCTCAGAAGGGCGGTCACCAGGCCCCCATGGGCAGCCTGCCGTCCTGAGCCCCCCTCCCNNNN
|
pathogenic
| 320,017 |
Mutation found at chromosome 21 position 44339161, gene CFAP410: benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['CFAP410-related_disorder', 'Retinal_dystrophy', 'Retinitis_pigmentosa']
|
GGTATGCGATCCCTGTGTAAGTTGGGGACATTTTGGACTGAGAAAGACAATGAGGGAGAGAAGAAAAAAATCTTTCACAGACGCACACACTCAAGTTCTCCCAGCAGGGCTTATTCTCTGCCTGCCTTTGGGGCAGCGGCAAGGGGGTACAAGGCTAGATGTGACCAAGAAGAGGGGGTGTAGACCTTCAACTTCCCCGTAACAAAGTAAAACAAGCCCTCCTGGGATTCCTTTCCAGGTGAGAGCAAGTTCCAAACTATTGCTCCCCTCCTCTGCGACCAAGTGACAAAGGGTGTTTCATTTATAGGGATGTTGACGGGAACTGCAAAATAAGCCTGGCACTAGAGAATTGTTTTTCCATTAGTGGTTCTGCAGAATGAAAACCGCTAAGTGAACAAAGTACCAAGTGTGGGACTGAATTGATAGGTGCAGTTTTGTCAACTTAAAAATTCTCTTGGGAAAGAAGCTACAACATTTGGGTTGAGGCTATTTGGAGATGATCAGTGCAATACTTACATCTGTGAGGCAATACTTACATCTGTGAGGCGGCTGCCCCTGGGGAGAGAAAAGATACATACTTTAATTTTGTTAAAGTTGAATAAAAAACACTGAAGACAAAAATTCCAAAAATCACCGATGACTCCCTACAAACCTTAAGATTCTAGGATTTTAATGGCATGGCAAAAAAGGAAGGTTGCCCAGATAACTGGCAAAGGTGTAAACAATTGTTTTAGCTGATTTTCAACTAAACTGTATGTTTGACGTTGGGGTGGTACTTTTTAGATAAGGAGCAGCAGGGTTGCTCCATTTGTAAGACACAAAAAGATGAACTCTTCCTCATGGTCCCTGAGTAGCAGAAGGTTCATTTCTCTCACTGACAGACATAAACAAGGGCGTCTTTATAAGAGGTCAAGTTCAAAGGGTGAACAGGCAACTTATGAAGCAAACTTTAAAAGCCTGAAACAGGGTTGTTGTTTCTCCCAGCTTAGTGGGAGTACTGACCACCCCATGCAAAACAAAGAAATGCATTATTGAAAGCAAATGACACGGGAATTGTAGCCAAAACACCAGATATGCCAGGGCAGAGAGAAAAGCTTTTTAATTAACAGGGAAGAGCTCACTCTGGGCAGTCTGCGGACACCCCTGGGAGGAAGCGTCTGCTCTCGCTGACCCCCACACCCGCCTGCACGGTGAGGCCAGTTGACACGGCGCGGTCACTCTGCTGAGTCCCCAGGGAACCCTGGAGATCTTGCAGGCCTCAACTCCAGGCTCCCTCTTCTGGAAGCTCCTGGTCTTCCTTGGCTCAGTGAGACTCAGCATTACCTGCCTTTCAGCCTGCCTGGGTCCCACCGCACCCACGTCCCTTCCTGTCACCTGCTAGGAGTACCCTGGGAACGGCCGCCCCCAGTACTGATTACCAACGTGTTTCCTGACTCAGTCCTGGAAAGCTCAGTTCTCTCTCCTATTCGACTTGGTCCCAGTGACTGCTGGCAACCCCAGACAACAGACCCAGCCCACAGGGCACCCGGGGCAAAGGCGGGCCGGGAAATGGGGGGGGGCCCAGGCGACCCCGACCCCCGGCCTCCTCCCCTCCCTCACCCGCGGCTCCTTCGCCGCCCTCGCCCCTGCCCCTCCCCCCTTCCACTCCGCCCCCGCCCCGCCCCGCCCCGGCTCCTCCCTCCGGCTCCGCCCTCGTCCCGCCCCGGCTCCTCCCTCCGGCTCCGCCCTCGTCCCGCCCCGGCTCCTCCCTCCGGCTCCGCCCTCGTCCCGCCCCGGCTCCTCCCTCCGGCTCCGCCCTCTCCCCGCCCCGGCTCCGCCCTCTCCCCGCCCCGGCTCCGCCCTCTCCCCGCCCCGGCTCCTCCCTCCGGCTCCGCCCTCGTCCCGCCCCGGCTCCTCCCTCCGGCTCCGCCCTCTCCCCGCCCCGGCTCCTCCCTCCGGCTCCGCCCTCGCCCCGCCCCGGCTCCTCCCCCCACCCCGGGGCGGCCGCGGCCAGGCCCCGCCTCACCAGCAGTTGAGCTTGCGCACGCTGTGCAGCTCCGAGGCCTTGGCCCGGGTCAGAACCATCTTCCGCGTCAGCTTCATGGCGGCCGCCCAGGCCCGACCGGCGGGCGCCCCCGGCCTCCTGATCCCGGGCGGGTGACGACTGCGCGGCGCGTGTCTCCAGGGGCGGGGCCCGCGTCGTCAGGGGCGGATCCTGAGCCGATTGGCGGCTCGGTGAGGAGAGCGGGGCGACGCGAGCCCGCTGGGGCCGCTTGGGCGCCGCTGACACGTTGGCTCTGCTCCTGCTCATGCGCGGCCTGGGGCGCCCTTCTCTGACGCGATTCTAACGCGACCCCGGAAGCGCGCAGCGAGCAGAGGGTGGGTGCAGGTGGCGGTCCCCGAGTCGGCCCAGTGAGGGCTGAACTGCTGCTCCCAGGAACCGAGCGGGGTGGGCTCGGTCCGACGCGCATCATGGCCGAGTGCCTAGGCCTGACTCTGAGCGCAGGCCTAGCGTGGATGGCATGGGCGCTACACAGCTCCAAGTTACGCGATTCAAACTCTTGGAATAAACCCAGGGCAGCCCTGGGGCTGTGTTGATTCCTTGTCTCCCTCCCTCCCAGCATTTACAGAAAAGACGCATTTATAGGAAAGACGCACGGGCAGGTCCAGCAGAGCCCTTACAAGCATTTCAACCTTTTAGAAATCAGATAAGACCCTCTAAACATCGTTACATGGGCCACAGTTACATTAAGACAGGCGTTCTGACGTTCTGAAACCGCCTTTGCAAAAAATTGTATCGGTGAGAGAAGGTTGGCCTTGAAGGAGATCTGGCCAACCCCCATCTTGCCTTTGGCCTTAAAACTGCCCTTAATTATTCCTGGATAAGCAAAGGTAACTTTGGGAGACATTTATAGTTTAAGTGATAGCAGCCCTTCCTCAAAACTAAACAGCCTTTGTAAAGCTAATGAGACCACTGAAACCGCCTTTGCAAAAATCATAACTGAAGAAATTATGACAGGGGAAGATCTCCTCACCCACCCCATCTTCCTGCTATCCTCTAAGCTGCTTTTGTTCATTCCTGGGTGTAGACCAGACTAGCCTTGGGAAGGAATTTAGTTTATAGATTAAACTGAAACAAAATTGATAATAGCCCTTTCCCAAAAAAACCCTTCTTGCCTGGGGACCAGTCTGCCTTTGTAGGACTAACAAATTAAGCTACGAGATTAAAAATTACAGTTTAGGGGCCATGCAACCTCTGGCGGCAAGAGTCTGAACCTCCCCAAATTGCTTCTGGGAATAACATCACTGTTGCAAAACTTAAGGTCAGTGCTTGAAATATTTTGTAGACCCTGCATTCAGATGCAGCAGATGACACCACCCAAACGGATAATCTGGCTCAACCATGTGTGTGATCCCACCCAGGGACAGAAGTCAGCCAGAACTCATTTTGACCCCCTATGATTTAATCTTCGACCTGACCAATCAGCACTCACCACTTTCTGAGCCCATACCCGCCAAATTATCCTTAAAAACACGGATCCCCGAATGCTTGGGGAGACTGATTTGAGTGATAATAAAACTCTGCTCTCCTGCACAGCCAGCTCTGTGTGTATTACTCTTTCTCCATTGCAATTCCGTTGCCTTGATAAATCGGTTCTGTCTAGGCAGTGGGCAAGGCGAACCCATTGGGCGGTTACACTACCAGCCTAGAAGGATAGAGGAGCATGAATTCCACTAAGATGCAGATGTAAACATTCGTCAGCCATTATTCTGGAGGTCACAAGATAAGCTACTTCCCCAATTACTCCTGCAGGTAACATCACTATTGTACCTTTGCAGGTTTCTTGCATGTCTCACACGGATGGATCCAGCTAAATGTCTTGCCAACAGCTCCTGTGGCCCCACCCAGAAGCCATGCAGCACAAAAGGACCAAAAGGACAGCTAGATTTCATCTCGCACCTAACCAATCAGCACTCCCCATGCCCTAGCCCCCTGTTCACCAAACTACCTTTGAACAACCCCTAACCCATGAGCCTTCAATTGTAACCGAGCAGCTTAGCAGCTGTGAATCCAAAATATCTGAGACAGGACTCAATCTGTTTAGAAAGTTTATTT
|
GGTATGCGATCCCTGTGTAAGTTGGGGACATTTTGGACTGAGAAAGACAATGAGGGAGAGAAGAAAAAAATCTTTCACAGACGCACACACTCAAGTTCTCCCAGCAGGGCTTATTCTCTGCCTGCCTTTGGGGCAGCGGCAAGGGGGTACAAGGCTAGATGTGACCAAGAAGAGGGGGTGTAGACCTTCAACTTCCCCGTAACAAAGTAAAACAAGCCCTCCTGGGATTCCTTTCCAGGTGAGAGCAAGTTCCAAACTATTGCTCCCCTCCTCTGCGACCAAGTGACAAAGGGTGTTTCATTTATAGGGATGTTGACGGGAACTGCAAAATAAGCCTGGCACTAGAGAATTGTTTTTCCATTAGTGGTTCTGCAGAATGAAAACCGCTAAGTGAACAAAGTACCAAGTGTGGGACTGAATTGATAGGTGCAGTTTTGTCAACTTAAAAATTCTCTTGGGAAAGAAGCTACAACATTTGGGTTGAGGCTATTTGGAGATGATCAGTGCAATACTTACATCTGTGAGGCAATACTTACATCTGTGAGGCGGCTGCCCCTGGGGAGAGAAAAGATACATACTTTAATTTTGTTAAAGTTGAATAAAAAACACTGAAGACAAAAATTCCAAAAATCACCGATGACTCCCTACAAACCTTAAGATTCTAGGATTTTAATGGCATGGCAAAAAAGGAAGGTTGCCCAGATAACTGGCAAAGGTGTAAACAATTGTTTTAGCTGATTTTCAACTAAACTGTATGTTTGACGTTGGGGTGGTACTTTTTAGATAAGGAGCAGCAGGGTTGCTCCATTTGTAAGACACAAAAAGATGAACTCTTCCTCATGGTCCCTGAGTAGCAGAAGGTTCATTTCTCTCACTGACAGACATAAACAAGGGCGTCTTTATAAGAGGTCAAGTTCAAAGGGTGAACAGGCAACTTATGAAGCAAACTTTAAAAGCCTGAAACAGGGTTGTTGTTTCTCCCAGCTTAGTGGGAGTACTGACCACCCCATGCAAAACAAAGAAATGCATTATTGAAAGCAAATGACACGGGAATTGTAGCCAAAACACCAGATATGCCAGGGCAGAGAGAAAAGCTTTTTAATTAACAGGGAAGAGCTCACTCTGGGCAGTCTGCGGACACCCCTGGGAGGAAGCGTCTGCTCTCGCTGACCCCCACACCCGCCTGCACGGTGAGGCCAGTTGACACGGCGCGGTCACTCTGCTGAGTCCCCAGGGAACCCTGGAGATCTTGCAGGCCTCAACTCCAGGCTCCCTCTTCTGGAAGCTCCTGGTCTTCCTTGGCTCAGTGAGACTCAGCATTACCTGCCTTTCAGCCTGCCTGGGTCCCACCGCACCCACGTCCCTTCCTGTCACCTGCTAGGAGTACCCTGGGAACGGCCGCCCCCAGTACTGATTACCAACGTGTTTCCTGACTCAGTCCTGGAAAGCTCAGTTCTCTCTCCTATTCGACTTGGTCCCAGTGACTGCTGGCAACCCCAGACAACAGACCCAGCCCACAGGGCACCCGGGGCAAAGGCGGGCCGGGAAATGGGGGGGGGCCCAGGCGACCCCGACCCCCGGCCTCCTCCCCTCCCTCACCCGCGGCTCCTTCGCCGCCCTCGCCCCTGCCCCTCCCCCCTTCCACTCCGCCCCCGCCCCGCCCCGCCCCGGCTCCTCCCTCCGGCTCCGCCCTCGTCCCGCCCCGGCTCCTCCCTCCGGCTCCGCCCTCGTCCCGCCCCGGCTCCTCCCTCCGGCTCCGCCCTCGTCCCGCCCCGGCTCCTCCCTCCGGCTCCGCCCTCTCCCCGCCCCGGCTCCGCCCTCTCCCCGCCCCGGCTCCGCCCTCTCCCCGCCCCGGCTCCTCCCTCCGGCTCCGCCCTCGTCCCGCCCCGGCTCCTCCCTCCGGCTCCGCCCTCTCCCCGCCCCGGCTCCTCCCTCCGGCTCCGCCCTCGCCCCGCCCCGGCTCCTCCCCCCACCCCGGGGCGGCCGCGGCCAGGCCCCGCCTCACCAGCAGTTGAGCTTGCGCACGCTGTGCAGCTCCGAGGCCTTGGCTGCACGCTGTGCAGCTCCGGGTCAGAACCATCTTCCGCGTCAGCTTCATGGCGGCCGCCCAGGCCCGACCGGCGGGCGCCCCCGGCCTCCTGATCCCGGGCGGGTGACGACTGCGCGGCGCGTGTCTCCAGGGGCGGGGCCCGCGTCGTCAGGGGCGGATCCTGAGCCGATTGGCGGCTCGGTGAGGAGAGCGGGGCGACGCGAGCCCGCTGGGGCCGCTTGGGCGCCGCTGACACGTTGGCTCTGCTCCTGCTCATGCGCGGCCTGGGGCGCCCTTCTCTGACGCGATTCTAACGCGACCCCGGAAGCGCGCAGCGAGCAGAGGGTGGGTGCAGGTGGCGGTCCCCGAGTCGGCCCAGTGAGGGCTGAACTGCTGCTCCCAGGAACCGAGCGGGGTGGGCTCGGTCCGACGCGCATCATGGCCGAGTGCCTAGGCCTGACTCTGAGCGCAGGCCTAGCGTGGATGGCATGGGCGCTACACAGCTCCAAGTTACGCGATTCAAACTCTTGGAATAAACCCAGGGCAGCCCTGGGGCTGTGTTGATTCCTTGTCTCCCTCCCTCCCAGCATTTACAGAAAAGACGCATTTATAGGAAAGACGCACGGGCAGGTCCAGCAGAGCCCTTACAAGCATTTCAACCTTTTAGAAATCAGATAAGACCCTCTAAACATCGTTACATGGGCCACAGTTACATTAAGACAGGCGTTCTGACGTTCTGAAACCGCCTTTGCAAAAAATTGTATCGGTGAGAGAAGGTTGGCCTTGAAGGAGATCTGGCCAACCCCCATCTTGCCTTTGGCCTTAAAACTGCCCTTAATTATTCCTGGATAAGCAAAGGTAACTTTGGGAGACATTTATAGTTTAAGTGATAGCAGCCCTTCCTCAAAACTAAACAGCCTTTGTAAAGCTAATGAGACCACTGAAACCGCCTTTGCAAAAATCATAACTGAAGAAATTATGACAGGGGAAGATCTCCTCACCCACCCCATCTTCCTGCTATCCTCTAAGCTGCTTTTGTTCATTCCTGGGTGTAGACCAGACTAGCCTTGGGAAGGAATTTAGTTTATAGATTAAACTGAAACAAAATTGATAATAGCCCTTTCCCAAAAAAACCCTTCTTGCCTGGGGACCAGTCTGCCTTTGTAGGACTAACAAATTAAGCTACGAGATTAAAAATTACAGTTTAGGGGCCATGCAACCTCTGGCGGCAAGAGTCTGAACCTCCCCAAATTGCTTCTGGGAATAACATCACTGTTGCAAAACTTAAGGTCAGTGCTTGAAATATTTTGTAGACCCTGCATTCAGATGCAGCAGATGACACCACCCAAACGGATAATCTGGCTCAACCATGTGTGTGATCCCACCCAGGGACAGAAGTCAGCCAGAACTCATTTTGACCCCCTATGATTTAATCTTCGACCTGACCAATCAGCACTCACCACTTTCTGAGCCCATACCCGCCAAATTATCCTTAAAAACACGGATCCCCGAATGCTTGGGGAGACTGATTTGAGTGATAATAAAACTCTGCTCTCCTGCACAGCCAGCTCTGTGTGTATTACTCTTTCTCCATTGCAATTCCGTTGCCTTGATAAATCGGTTCTGTCTAGGCAGTGGGCAAGGCGAACCCATTGGGCGGTTACACTACCAGCCTAGAAGGATAGAGGAGCATGAATTCCACTAAGATGCAGATGTAAACATTCGTCAGCCATTATTCTGGAGGTCACAAGATAAGCTACTTCCCCAATTACTCCTGCAGGTAACATCACTATTGTACCTTTGCAGGTTTCTTGCATGTCTCACACGGATGGATCCAGCTAAATGTCTTGCCAACAGCTCCTGTGGCCCCACCCAGAAGCCATGCAGCACAAAAGGACCAAAAGGACAGCTAGATTTCATCTCGCACCTAACCAATCAGCACTCCCCATGCCCTAGCCCCCTGTTCACCAAACTACCTTTGAACAACCCCTAACCCATGAGCCTTCAATTGTAACCGAGCAGCTTAGCAGCTGTGAATCCAAAATATCTGAGACAGGACTCAATCTG
|
pathogenic
| 320,038 |
Considering the genetic mutation at chromosome 21, position 44509225, impacting TSPEAR: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Ectodermal_dysplasia_14,_hair/tooth_type_with_or_without_hypohidrosis', 'TSPEAR-related_disorder_of_tooth_and_hair_follicle_morphogenesis']
|
CGGGGGTGCCCAGTTGGGAGGGAGGGGCTGGAAAAGGGTGTGGGGGGCTCCTTGTGAGGGGATGAGAATGTTCCAGAGTTGTCTGCAGCCATGGCTGCACATATCTGTGGATTTAATAGAACTACTGAATCTAAAAAGCAAACACAAGCGACCATTTGAAGGCAGTCAGAGCCAAGGTTACACACAGAAGCCACAAAACCCCTCAGCGCCCTTGAATAGGGTTTTGGACTTGGTGAGGCCACATCACGTCTCCGGGAAGTGTAGGGAATTCCCCATGCTGGGTAGAAGGGCTAGGAGTTTGACTTGTGTGTGCTGTTTTGATGGTAATTATTAAACATTACCTTAATTAATTGGTAAGTACTTTCTGTGTTTCATAATTTAGTTCATAAACTGTCCATACCACTGTCCAGTGGTGACAGGGCCATAAGTCGCGAGTGTGTAGCTGTGTTCTGTCAGTTCCCGCAGCTTTCAAATCCCGAGGCGTCTGCCTCATCTGTTTCTAGACTGGGCATCATGTCCATGACTAATTTTTAATCACAATTCATTCTCCAACTTGTCTTATTCTAAATGTTGTTCTAAAAAGCCTAATGTTTGTTTTGTTCTCGGCGTTGACATTGGATGGCGTGGATTCGTGCTGGGGACACACAACTGCCACCGCCGCCCCGTGCCTGTTTCTCCTGCCATGGCTGCCAGGCCACGCAGGGGCCACGGAGCCCACAGGCAGGTCACCCCGGAATCCCCAGTGCCCCCAGCAGACACCGCCGCTGGCTCTTTTTCTTTATTATGAGTGTTCTTTTTTTAATTTTTAAAAATCATATAAGTAAGATATTAGTAAGTTAACATTGTCATCCTTTGTAAAGCCAGGAGTTCAGAAGTAACAGGGCAAATAGGGAAAGTCCTTCCTGGCCTGTCTACATACCCCTGCAGCCCTCCCGGTCCTAGGGTGACTGCTGACGGAGAGGGCACTCCCTTCCCGAGTCTTCTCTGCACGTCCGTGGGCACGCACAGCTGAGCGGCACACAGCAGCCCGGCTCGCTCCTCCGCACTGGGGACACAAGATTTCACTGCACCTCACCCAGCCCTTTCCACAGAGCAGTTCATCTTGGAGACTCTTCCCCTCGAAGGGTCTAAAGGTATGTGTTGTTGTGTGTCTCAAGCTGAGATTAGAGCCCAGTGCCCAGGAGGGGCAGGTGAATTGTTACCGAATGAAATAGGAGTGCATGAAACCCGAGGAAACCTGGGAAAGCCGCCTGCTCCATCCCAGGATGGGAATGGGCCAGATTCCAGCTCCAAGCTTGACCCATGGCCCCTGGCTCTGGGATCTGGGTAATACGGATTCGATTGCAGGTTTATTCACAGACCGGAATTCCACCCCAGAGGACGCCCCACACTGGTCAGGATGGTTGTGGATTCTCAGTGCCCACTGTCCAAAATGTGGTGCCCACGCAACCTCCTGTGGCTCCACGGAGCGTGTCGGTCTGGAACCATCACTTTCTCGTACATACAGACCCACCCTCCATGTTCCCTGGATCTCACATCTGTCTCAACAGGCCAGTCTCCGTGTCCTGGTGTTTGTTGTCGGGGAGGATGCAACATCGGGGGAAGGAAGTAATCATGTCTGGTGGCAGCTGGCACTGGCAGGCAGCGGGCACTCGAAGCCTGCACCTCGCACCTGTCCCTCTGGGGCCTCGGCTATCCCTCCGCACGACGGGCATGAAGCCCCCTCCTGCCTCCACTGCTCGGATGAAAGGAGGTAATGGGTGTGAAGGGGCAGAACTCCGCACACAGCACCCGGCTCTGGGAACCAAACCTGTGTCTCAGGGCGGCACTGACTTCCCCAGGCCAGGAAAGTCCCCAGGCCATTCTTTCCACAGGAAGGTCCCCAGGCCATTCTTTCCACAGGAAGGTCCCCAGGCCAGTCTTTCCACGGGAAGGGTGGTGAGGATGAGCCTAACGGGGATTCCGACATGGTGGGCCTCCCAGAGATCAGCCCACCTCCCACTGGCCTGTGGAGGCGCATACCTGCAGGTGAGAATGTCCTGGAACTTGACAAAGGCCTGCGCGGTCACGTTCAGCTCGTAGATGACGGAGTTGATGACATAGGAATCATTCTGGACTTGCATCTCCACATCGTAGCTGTGACTGTTTGCCACAGCGAGGAAGATCCTCTCCCCGATCTGGAAGACCTCCCAGTCTGCAGCACCGAACGTCTAGGACCAAAGGAGAGCAGGTGCAGAGGTGTGGGGGAGCGGGCGCAGAGGTGTGGGGGAGCGGGCGCAGAGGTGTGGGGGAGCGGGCGCAGAGGTGTGGGGGAGGGGGCGCAGAGGTGTGGGGGAGGGGGCGCAGAGGTGTGGGTGAGCGGGCGCAGAGGTGTGGGTGAGCGGGCGCAGAGGTGTGGGAGAGCGGGCGCAGAGGTGTGAGTGAGCAGCACTCTCCCTGGCTGTCCCCAGGGCTGCCACTTGGCAGGACGTGGGATCTTGGCACAGCCCAGTGCCCGCTGTGCTCCAGGTGCCAGACGTGGCACTCCTGCTGGCAGCCTCCTTGGCCACTTCTCCCTGAATGTTAGTGCCAGCTGTGCCCAGCCCTGCCCCTAGCGACCATCTGTGTGACTTGCTTCTCAGCAATCCATGCCTTCTCCTACTCCAGGCCCCAGTGCTGTGCGTCCTACGAGCACCACCTGCTGTCTCACCTCTTCCAGGAAGCCCACCCTGATCCCTCTAGTCCCAGCCTCAGACACTGAAGCAACATCAGGTACCTCTCGAGTTTTCTCTTACACGCTTTCCCTGGCCTTGCAGTTTGGCTGAGTCTTTCCTCTGGCTCTGTAGACAGAAGCCATCTCTGGGTTCCTGTGCTTGCCATTCCTCCATAAATCACTTACCACCGTCAAGAGGCAACAGGTCTGGGGCTGCACACGGAGGCCCAACTGCGGCACCTCTGCCACCAACCTTGAGCTGCAGGACTGTCTGCATGTGGGGTCCACAAGGCGGAAGCTTCTGCCAGCACCTTGGGGATAAGGGTGGTGGGGCTGCACGGGGAAGGGGAAGGCTGCTTCCCTGGGGACAGTGTCCCCACAGGCCGGGGATCCCTGCGCACGGTCCCAGGCTGTCCTAGCTGAGGACGGAGCCGGTCATGCTGCGGGGCTGTGTCTCTTCCTGACTCACCCCCGTCCGGAGGGCCTTCTGCCTGAGGGACATTGCACCACCGGGCCAGGTAAGAAGCAGCTCTGAGAGCCTCCCGTGACAGCAACCACTGGGACGTTTTCTATTTGCCCAAATCGACCAGCAAGGGCCCGGCTCAGACGCCCCTGGGTCTGATGCGACCTGCCCTCCGCAGCAGGTCAGGCACCCTCCCTTGCTTGTATGCTCAGGACGGGGCTGCCCAGGCATCTTCTGGTCCCCCTGACTGTCCGGCGCCTGCCCGGCCGGCTCAGGTGCTGCAGGAAAGAGAAAACTCTGGGCCCAACGTCAACGTGCGTTCTCCACGCCCAGCAGGGGGCGCCGTTGCCCGCCCGAGCCCGGAGAGCCTGGGCTGCAGGGGAGGGCGCCACAGGTGAGGACACAGCTCCGTGGGCACCAGGCAAGGTCCCAAAGCAGATCCGCAGCCGGTCAGAGGAGCGCACATGGGTGAGCTTAAGCTAAGAAAGCAAGACTCACTAGGCAAGGACAGGGGCCCAGGACACCTGGCGGCGCCGAACCCTCGGCGGGGGCGGGGCCGGGGGCTGGCTGAGGCTTTCCCGGGTCAGCGCGCCCTCCCCTCCTGCAGCTCCACGAGATGTGACTATTCCTATCTGCTGGAGAACAGCCGTCCAGGGCCACCCCACGTCCTTCAAGGGGACTCTGAGACACTCTGGGCCGGTGGGACCTTCAGCAGCATCTGGACTTTGGCTGCCTCACAGGTGGGCGGGGGGGAGTGTTACACACAGGCCAGTTCACTGACTCAGCAGAAGAGAAACAGGAATCATCAGACTGTTCAACCCTGGGCTCCTCCCACGCCTGTGCTGAGGAAACCAACTGAGTGGGCAACCCTCACGTGTGTACACATGCCTGCACACACCTGCACACACAGGCCCATACCTGCACACCTGCATGTATGCATA
|
CGGGGGTGCCCAGTTGGGAGGGAGGGGCTGGAAAAGGGTGTGGGGGGCTCCTTGTGAGGGGATGAGAATGTTCCAGAGTTGTCTGCAGCCATGGCTGCACATATCTGTGGATTTAATAGAACTACTGAATCTAAAAAGCAAACACAAGCGACCATTTGAAGGCAGTCAGAGCCAAGGTTACACACAGAAGCCACAAAACCCCTCAGCGCCCTTGAATAGGGTTTTGGACTTGGTGAGGCCACATCACGTCTCCGGGAAGTGTAGGGAATTCCCCATGCTGGGTAGAAGGGCTAGGAGTTTGACTTGTGTGTGCTGTTTTGATGGTAATTATTAAACATTACCTTAATTAATTGGTAAGTACTTTCTGTGTTTCATAATTTAGTTCATAAACTGTCCATACCACTGTCCAGTGGTGACAGGGCCATAAGTCGCGAGTGTGTAGCTGTGTTCTGTCAGTTCCCGCAGCTTTCAAATCCCGAGGCGTCTGCCTCATCTGTTTCTAGACTGGGCATCATGTCCATGACTAATTTTTAATCACAATTCATTCTCCAACTTGTCTTATTCTAAATGTTGTTCTAAAAAGCCTAATGTTTGTTTTGTTCTCGGCGTTGACATTGGATGGCGTGGATTCGTGCTGGGGACACACAACTGCCACCGCCGCCCCGTGCCTGTTTCTCCTGCCATGGCTGCCAGGCCACGCAGGGGCCACGGAGCCCACAGGCAGGTCACCCCGGAATCCCCAGTGCCCCCAGCAGACACCGCCGCTGGCTCTTTTTCTTTATTATGAGTGTTCTTTTTTTAATTTTTAAAAATCATATAAGTAAGATATTAGTAAGTTAACATTGTCATCCTTTGTAAAGCCAGGAGTTCAGAAGTAACAGGGCAAATAGGGAAAGTCCTTCCTGGCCTGTCTACATACCCCTGCAGCCCTCCCGGTCCTAGGGTGACTGCTGACGGAGAGGGCACTCCCTTCCCGAGTCTTCTCTGCACGTCCGTGGGCACGCACAGCTGAGCGGCACACAGCAGCCCGGCTCGCTCCTCCGCACTGGGGACACAAGATTTCACTGCACCTCACCCAGCCCTTTCCACAGAGCAGTTCATCTTGGAGACTCTTCCCCTCGAAGGGTCTAAAGGTATGTGTTGTTGTGTGTCTCAAGCTGAGATTAGAGCCCAGTGCCCAGGAGGGGCAGGTGAATTGTTACCGAATGAAATAGGAGTGCATGAAACCCGAGGAAACCTGGGAAAGCCGCCTGCTCCATCCCAGGATGGGAATGGGCCAGATTCCAGCTCCAAGCTTGACCCATGGCCCCTGGCTCTGGGATCTGGGTAATACGGATTCGATTGCAGGTTTATTCACAGACCGGAATTCCACCCCAGAGGACGCCCCACACTGGTCAGGATGGTTGTGGATTCTCAGTGCCCACTGTCCAAAATGTGGTGCCCACGCAACCTCCTGTGGCTCCACGGAGCGTGTCGGTCTGGAACCATCACTTTCTCGTACATACAGACCCACCCTCCATGTTCCCTGGATCTCACATCTGTCTCAACAGGCCAGTCTCCGTGTCCTGGTGTTTGTTGTCGGGGAGGATGCAACATCGGGGGAAGGAAGTAATCATGTCTGGTGGCAGCTGGCACTGGCAGGCAGCGGGCACTCGAAGCCTGCACCTCGCACCTGTCCCTCTGGGGCCTCGGCTATCCCTCCGCACGACGGGCATGAAGCCCCCTCCTGCCTCCACTGCTCGGATGAAAGGAGGTAATGGGTGTGAAGGGGCAGAACTCCGCACACAGCACCCGGCTCTGGGAACCAAACCTGTGTCTCAGGGCGGCACTGACTTCCCCAGGCCAGGAAAGTCCCCAGGCCATTCTTTCCACAGGAAGGTCCCCAGGCCATTCTTTCCACAGGAAGGTCCCCAGGCCAGTCTTTCCACGGGAAGGGTGGTGAGGATGAGCCTAACGGGGATTCCGACATGGTGGGCCTCCCAGAGATCAGCCCACCTCCCACTGGCCTGTGGAGGCGCATACCTGCAGGTGAGAATGTCCTGGAACTTAAAAAGGCCTGCGCGGTCACGTTCAGCTCGTAGATGACGGAGTTGATGACATAGGAATCATTCTGGACTTGCATCTCCACATCGTAGCTGTGACTGTTTGCCACAGCGAGGAAGATCCTCTCCCCGATCTGGAAGACCTCCCAGTCTGCAGCACCGAACGTCTAGGACCAAAGGAGAGCAGGTGCAGAGGTGTGGGGGAGCGGGCGCAGAGGTGTGGGGGAGCGGGCGCAGAGGTGTGGGGGAGCGGGCGCAGAGGTGTGGGGGAGGGGGCGCAGAGGTGTGGGGGAGGGGGCGCAGAGGTGTGGGTGAGCGGGCGCAGAGGTGTGGGTGAGCGGGCGCAGAGGTGTGGGAGAGCGGGCGCAGAGGTGTGAGTGAGCAGCACTCTCCCTGGCTGTCCCCAGGGCTGCCACTTGGCAGGACGTGGGATCTTGGCACAGCCCAGTGCCCGCTGTGCTCCAGGTGCCAGACGTGGCACTCCTGCTGGCAGCCTCCTTGGCCACTTCTCCCTGAATGTTAGTGCCAGCTGTGCCCAGCCCTGCCCCTAGCGACCATCTGTGTGACTTGCTTCTCAGCAATCCATGCCTTCTCCTACTCCAGGCCCCAGTGCTGTGCGTCCTACGAGCACCACCTGCTGTCTCACCTCTTCCAGGAAGCCCACCCTGATCCCTCTAGTCCCAGCCTCAGACACTGAAGCAACATCAGGTACCTCTCGAGTTTTCTCTTACACGCTTTCCCTGGCCTTGCAGTTTGGCTGAGTCTTTCCTCTGGCTCTGTAGACAGAAGCCATCTCTGGGTTCCTGTGCTTGCCATTCCTCCATAAATCACTTACCACCGTCAAGAGGCAACAGGTCTGGGGCTGCACACGGAGGCCCAACTGCGGCACCTCTGCCACCAACCTTGAGCTGCAGGACTGTCTGCATGTGGGGTCCACAAGGCGGAAGCTTCTGCCAGCACCTTGGGGATAAGGGTGGTGGGGCTGCACGGGGAAGGGGAAGGCTGCTTCCCTGGGGACAGTGTCCCCACAGGCCGGGGATCCCTGCGCACGGTCCCAGGCTGTCCTAGCTGAGGACGGAGCCGGTCATGCTGCGGGGCTGTGTCTCTTCCTGACTCACCCCCGTCCGGAGGGCCTTCTGCCTGAGGGACATTGCACCACCGGGCCAGGTAAGAAGCAGCTCTGAGAGCCTCCCGTGACAGCAACCACTGGGACGTTTTCTATTTGCCCAAATCGACCAGCAAGGGCCCGGCTCAGACGCCCCTGGGTCTGATGCGACCTGCCCTCCGCAGCAGGTCAGGCACCCTCCCTTGCTTGTATGCTCAGGACGGGGCTGCCCAGGCATCTTCTGGTCCCCCTGACTGTCCGGCGCCTGCCCGGCCGGCTCAGGTGCTGCAGGAAAGAGAAAACTCTGGGCCCAACGTCAACGTGCGTTCTCCACGCCCAGCAGGGGGCGCCGTTGCCCGCCCGAGCCCGGAGAGCCTGGGCTGCAGGGGAGGGCGCCACAGGTGAGGACACAGCTCCGTGGGCACCAGGCAAGGTCCCAAAGCAGATCCGCAGCCGGTCAGAGGAGCGCACATGGGTGAGCTTAAGCTAAGAAAGCAAGACTCACTAGGCAAGGACAGGGGCCCAGGACACCTGGCGGCGCCGAACCCTCGGCGGGGGCGGGGCCGGGGGCTGGCTGAGGCTTTCCCGGGTCAGCGCGCCCTCCCCTCCTGCAGCTCCACGAGATGTGACTATTCCTATCTGCTGGAGAACAGCCGTCCAGGGCCACCCCACGTCCTTCAAGGGGACTCTGAGACACTCTGGGCCGGTGGGACCTTCAGCAGCATCTGGACTTTGGCTGCCTCACAGGTGGGCGGGGGGGAGTGTTACACACAGGCCAGTTCACTGACTCAGCAGAAGAGAAACAGGAATCATCAGACTGTTCAACCCTGGGCTCCTCCCACGCCTGTGCTGAGGAAACCAACTGAGTGGGCAACCCTCACGTGTGTACACATGCCTGCACACACCTGCACACACAGGCCCATACCTGCACACCTGCATGTATGCATAN
|
pathogenic
| 320,092 |
Variant chromosome 21, position 44509275, gene TSPEAR: benign or pathogenic? Disease(s)?
|
pathogenic; ['Ectodermal_dysplasia_14,_hair/tooth_type_with_or_without_hypohidrosis', 'Inborn_genetic_diseases', 'TSPEAR-related_disorder']
|
CTTGTGAGGGGATGAGAATGTTCCAGAGTTGTCTGCAGCCATGGCTGCACATATCTGTGGATTTAATAGAACTACTGAATCTAAAAAGCAAACACAAGCGACCATTTGAAGGCAGTCAGAGCCAAGGTTACACACAGAAGCCACAAAACCCCTCAGCGCCCTTGAATAGGGTTTTGGACTTGGTGAGGCCACATCACGTCTCCGGGAAGTGTAGGGAATTCCCCATGCTGGGTAGAAGGGCTAGGAGTTTGACTTGTGTGTGCTGTTTTGATGGTAATTATTAAACATTACCTTAATTAATTGGTAAGTACTTTCTGTGTTTCATAATTTAGTTCATAAACTGTCCATACCACTGTCCAGTGGTGACAGGGCCATAAGTCGCGAGTGTGTAGCTGTGTTCTGTCAGTTCCCGCAGCTTTCAAATCCCGAGGCGTCTGCCTCATCTGTTTCTAGACTGGGCATCATGTCCATGACTAATTTTTAATCACAATTCATTCTCCAACTTGTCTTATTCTAAATGTTGTTCTAAAAAGCCTAATGTTTGTTTTGTTCTCGGCGTTGACATTGGATGGCGTGGATTCGTGCTGGGGACACACAACTGCCACCGCCGCCCCGTGCCTGTTTCTCCTGCCATGGCTGCCAGGCCACGCAGGGGCCACGGAGCCCACAGGCAGGTCACCCCGGAATCCCCAGTGCCCCCAGCAGACACCGCCGCTGGCTCTTTTTCTTTATTATGAGTGTTCTTTTTTTAATTTTTAAAAATCATATAAGTAAGATATTAGTAAGTTAACATTGTCATCCTTTGTAAAGCCAGGAGTTCAGAAGTAACAGGGCAAATAGGGAAAGTCCTTCCTGGCCTGTCTACATACCCCTGCAGCCCTCCCGGTCCTAGGGTGACTGCTGACGGAGAGGGCACTCCCTTCCCGAGTCTTCTCTGCACGTCCGTGGGCACGCACAGCTGAGCGGCACACAGCAGCCCGGCTCGCTCCTCCGCACTGGGGACACAAGATTTCACTGCACCTCACCCAGCCCTTTCCACAGAGCAGTTCATCTTGGAGACTCTTCCCCTCGAAGGGTCTAAAGGTATGTGTTGTTGTGTGTCTCAAGCTGAGATTAGAGCCCAGTGCCCAGGAGGGGCAGGTGAATTGTTACCGAATGAAATAGGAGTGCATGAAACCCGAGGAAACCTGGGAAAGCCGCCTGCTCCATCCCAGGATGGGAATGGGCCAGATTCCAGCTCCAAGCTTGACCCATGGCCCCTGGCTCTGGGATCTGGGTAATACGGATTCGATTGCAGGTTTATTCACAGACCGGAATTCCACCCCAGAGGACGCCCCACACTGGTCAGGATGGTTGTGGATTCTCAGTGCCCACTGTCCAAAATGTGGTGCCCACGCAACCTCCTGTGGCTCCACGGAGCGTGTCGGTCTGGAACCATCACTTTCTCGTACATACAGACCCACCCTCCATGTTCCCTGGATCTCACATCTGTCTCAACAGGCCAGTCTCCGTGTCCTGGTGTTTGTTGTCGGGGAGGATGCAACATCGGGGGAAGGAAGTAATCATGTCTGGTGGCAGCTGGCACTGGCAGGCAGCGGGCACTCGAAGCCTGCACCTCGCACCTGTCCCTCTGGGGCCTCGGCTATCCCTCCGCACGACGGGCATGAAGCCCCCTCCTGCCTCCACTGCTCGGATGAAAGGAGGTAATGGGTGTGAAGGGGCAGAACTCCGCACACAGCACCCGGCTCTGGGAACCAAACCTGTGTCTCAGGGCGGCACTGACTTCCCCAGGCCAGGAAAGTCCCCAGGCCATTCTTTCCACAGGAAGGTCCCCAGGCCATTCTTTCCACAGGAAGGTCCCCAGGCCAGTCTTTCCACGGGAAGGGTGGTGAGGATGAGCCTAACGGGGATTCCGACATGGTGGGCCTCCCAGAGATCAGCCCACCTCCCACTGGCCTGTGGAGGCGCATACCTGCAGGTGAGAATGTCCTGGAACTTGACAAAGGCCTGCGCGGTCACGTTCAGCTCGTAGATGACGGAGTTGATGACATAGGAATCATTCTGGACTTGCATCTCCACATCGTAGCTGTGACTGTTTGCCACAGCGAGGAAGATCCTCTCCCCGATCTGGAAGACCTCCCAGTCTGCAGCACCGAACGTCTAGGACCAAAGGAGAGCAGGTGCAGAGGTGTGGGGGAGCGGGCGCAGAGGTGTGGGGGAGCGGGCGCAGAGGTGTGGGGGAGCGGGCGCAGAGGTGTGGGGGAGGGGGCGCAGAGGTGTGGGGGAGGGGGCGCAGAGGTGTGGGTGAGCGGGCGCAGAGGTGTGGGTGAGCGGGCGCAGAGGTGTGGGAGAGCGGGCGCAGAGGTGTGAGTGAGCAGCACTCTCCCTGGCTGTCCCCAGGGCTGCCACTTGGCAGGACGTGGGATCTTGGCACAGCCCAGTGCCCGCTGTGCTCCAGGTGCCAGACGTGGCACTCCTGCTGGCAGCCTCCTTGGCCACTTCTCCCTGAATGTTAGTGCCAGCTGTGCCCAGCCCTGCCCCTAGCGACCATCTGTGTGACTTGCTTCTCAGCAATCCATGCCTTCTCCTACTCCAGGCCCCAGTGCTGTGCGTCCTACGAGCACCACCTGCTGTCTCACCTCTTCCAGGAAGCCCACCCTGATCCCTCTAGTCCCAGCCTCAGACACTGAAGCAACATCAGGTACCTCTCGAGTTTTCTCTTACACGCTTTCCCTGGCCTTGCAGTTTGGCTGAGTCTTTCCTCTGGCTCTGTAGACAGAAGCCATCTCTGGGTTCCTGTGCTTGCCATTCCTCCATAAATCACTTACCACCGTCAAGAGGCAACAGGTCTGGGGCTGCACACGGAGGCCCAACTGCGGCACCTCTGCCACCAACCTTGAGCTGCAGGACTGTCTGCATGTGGGGTCCACAAGGCGGAAGCTTCTGCCAGCACCTTGGGGATAAGGGTGGTGGGGCTGCACGGGGAAGGGGAAGGCTGCTTCCCTGGGGACAGTGTCCCCACAGGCCGGGGATCCCTGCGCACGGTCCCAGGCTGTCCTAGCTGAGGACGGAGCCGGTCATGCTGCGGGGCTGTGTCTCTTCCTGACTCACCCCCGTCCGGAGGGCCTTCTGCCTGAGGGACATTGCACCACCGGGCCAGGTAAGAAGCAGCTCTGAGAGCCTCCCGTGACAGCAACCACTGGGACGTTTTCTATTTGCCCAAATCGACCAGCAAGGGCCCGGCTCAGACGCCCCTGGGTCTGATGCGACCTGCCCTCCGCAGCAGGTCAGGCACCCTCCCTTGCTTGTATGCTCAGGACGGGGCTGCCCAGGCATCTTCTGGTCCCCCTGACTGTCCGGCGCCTGCCCGGCCGGCTCAGGTGCTGCAGGAAAGAGAAAACTCTGGGCCCAACGTCAACGTGCGTTCTCCACGCCCAGCAGGGGGCGCCGTTGCCCGCCCGAGCCCGGAGAGCCTGGGCTGCAGGGGAGGGCGCCACAGGTGAGGACACAGCTCCGTGGGCACCAGGCAAGGTCCCAAAGCAGATCCGCAGCCGGTCAGAGGAGCGCACATGGGTGAGCTTAAGCTAAGAAAGCAAGACTCACTAGGCAAGGACAGGGGCCCAGGACACCTGGCGGCGCCGAACCCTCGGCGGGGGCGGGGCCGGGGGCTGGCTGAGGCTTTCCCGGGTCAGCGCGCCCTCCCCTCCTGCAGCTCCACGAGATGTGACTATTCCTATCTGCTGGAGAACAGCCGTCCAGGGCCACCCCACGTCCTTCAAGGGGACTCTGAGACACTCTGGGCCGGTGGGACCTTCAGCAGCATCTGGACTTTGGCTGCCTCACAGGTGGGCGGGGGGGAGTGTTACACACAGGCCAGTTCACTGACTCAGCAGAAGAGAAACAGGAATCATCAGACTGTTCAACCCTGGGCTCCTCCCACGCCTGTGCTGAGGAAACCAACTGAGTGGGCAACCCTCACGTGTGTACACATGCCTGCACACACCTGCACACACAGGCCCATACCTGCACACCTGCATGTATGCATACATACACAAACATGGATGTGCACTGTGCGCACACACACATGCACGCCTGC
|
CTTGTGAGGGGATGAGAATGTTCCAGAGTTGTCTGCAGCCATGGCTGCACATATCTGTGGATTTAATAGAACTACTGAATCTAAAAAGCAAACACAAGCGACCATTTGAAGGCAGTCAGAGCCAAGGTTACACACAGAAGCCACAAAACCCCTCAGCGCCCTTGAATAGGGTTTTGGACTTGGTGAGGCCACATCACGTCTCCGGGAAGTGTAGGGAATTCCCCATGCTGGGTAGAAGGGCTAGGAGTTTGACTTGTGTGTGCTGTTTTGATGGTAATTATTAAACATTACCTTAATTAATTGGTAAGTACTTTCTGTGTTTCATAATTTAGTTCATAAACTGTCCATACCACTGTCCAGTGGTGACAGGGCCATAAGTCGCGAGTGTGTAGCTGTGTTCTGTCAGTTCCCGCAGCTTTCAAATCCCGAGGCGTCTGCCTCATCTGTTTCTAGACTGGGCATCATGTCCATGACTAATTTTTAATCACAATTCATTCTCCAACTTGTCTTATTCTAAATGTTGTTCTAAAAAGCCTAATGTTTGTTTTGTTCTCGGCGTTGACATTGGATGGCGTGGATTCGTGCTGGGGACACACAACTGCCACCGCCGCCCCGTGCCTGTTTCTCCTGCCATGGCTGCCAGGCCACGCAGGGGCCACGGAGCCCACAGGCAGGTCACCCCGGAATCCCCAGTGCCCCCAGCAGACACCGCCGCTGGCTCTTTTTCTTTATTATGAGTGTTCTTTTTTTAATTTTTAAAAATCATATAAGTAAGATATTAGTAAGTTAACATTGTCATCCTTTGTAAAGCCAGGAGTTCAGAAGTAACAGGGCAAATAGGGAAAGTCCTTCCTGGCCTGTCTACATACCCCTGCAGCCCTCCCGGTCCTAGGGTGACTGCTGACGGAGAGGGCACTCCCTTCCCGAGTCTTCTCTGCACGTCCGTGGGCACGCACAGCTGAGCGGCACACAGCAGCCCGGCTCGCTCCTCCGCACTGGGGACACAAGATTTCACTGCACCTCACCCAGCCCTTTCCACAGAGCAGTTCATCTTGGAGACTCTTCCCCTCGAAGGGTCTAAAGGTATGTGTTGTTGTGTGTCTCAAGCTGAGATTAGAGCCCAGTGCCCAGGAGGGGCAGGTGAATTGTTACCGAATGAAATAGGAGTGCATGAAACCCGAGGAAACCTGGGAAAGCCGCCTGCTCCATCCCAGGATGGGAATGGGCCAGATTCCAGCTCCAAGCTTGACCCATGGCCCCTGGCTCTGGGATCTGGGTAATACGGATTCGATTGCAGGTTTATTCACAGACCGGAATTCCACCCCAGAGGACGCCCCACACTGGTCAGGATGGTTGTGGATTCTCAGTGCCCACTGTCCAAAATGTGGTGCCCACGCAACCTCCTGTGGCTCCACGGAGCGTGTCGGTCTGGAACCATCACTTTCTCGTACATACAGACCCACCCTCCATGTTCCCTGGATCTCACATCTGTCTCAACAGGCCAGTCTCCGTGTCCTGGTGTTTGTTGTCGGGGAGGATGCAACATCGGGGGAAGGAAGTAATCATGTCTGGTGGCAGCTGGCACTGGCAGGCAGCGGGCACTCGAAGCCTGCACCTCGCACCTGTCCCTCTGGGGCCTCGGCTATCCCTCCGCACGACGGGCATGAAGCCCCCTCCTGCCTCCACTGCTCGGATGAAAGGAGGTAATGGGTGTGAAGGGGCAGAACTCCGCACACAGCACCCGGCTCTGGGAACCAAACCTGTGTCTCAGGGCGGCACTGACTTCCCCAGGCCAGGAAAGTCCCCAGGCCATTCTTTCCACAGGAAGGTCCCCAGGCCATTCTTTCCACAGGAAGGTCCCCAGGCCAGTCTTTCCACGGGAAGGGTGGTGAGGATGAGCCTAACGGGGATTCCGACATGGTGGGCCTCCCAGAGATCAGCCCACCTCCCACTGGCCTGTGGAGGCGCATACCTGCAGGTGAGAATGTCCTGGAACTTGACAAAGGCCTGCGCGGTCACGTTCAGCTCGTAGATGACGGAGTTGATGACAGGAATCATTCTGGACTTGCATCTCCACATCGTAGCTGTGACTGTTTGCCACAGCGAGGAAGATCCTCTCCCCGATCTGGAAGACCTCCCAGTCTGCAGCACCGAACGTCTAGGACCAAAGGAGAGCAGGTGCAGAGGTGTGGGGGAGCGGGCGCAGAGGTGTGGGGGAGCGGGCGCAGAGGTGTGGGGGAGCGGGCGCAGAGGTGTGGGGGAGGGGGCGCAGAGGTGTGGGGGAGGGGGCGCAGAGGTGTGGGTGAGCGGGCGCAGAGGTGTGGGTGAGCGGGCGCAGAGGTGTGGGAGAGCGGGCGCAGAGGTGTGAGTGAGCAGCACTCTCCCTGGCTGTCCCCAGGGCTGCCACTTGGCAGGACGTGGGATCTTGGCACAGCCCAGTGCCCGCTGTGCTCCAGGTGCCAGACGTGGCACTCCTGCTGGCAGCCTCCTTGGCCACTTCTCCCTGAATGTTAGTGCCAGCTGTGCCCAGCCCTGCCCCTAGCGACCATCTGTGTGACTTGCTTCTCAGCAATCCATGCCTTCTCCTACTCCAGGCCCCAGTGCTGTGCGTCCTACGAGCACCACCTGCTGTCTCACCTCTTCCAGGAAGCCCACCCTGATCCCTCTAGTCCCAGCCTCAGACACTGAAGCAACATCAGGTACCTCTCGAGTTTTCTCTTACACGCTTTCCCTGGCCTTGCAGTTTGGCTGAGTCTTTCCTCTGGCTCTGTAGACAGAAGCCATCTCTGGGTTCCTGTGCTTGCCATTCCTCCATAAATCACTTACCACCGTCAAGAGGCAACAGGTCTGGGGCTGCACACGGAGGCCCAACTGCGGCACCTCTGCCACCAACCTTGAGCTGCAGGACTGTCTGCATGTGGGGTCCACAAGGCGGAAGCTTCTGCCAGCACCTTGGGGATAAGGGTGGTGGGGCTGCACGGGGAAGGGGAAGGCTGCTTCCCTGGGGACAGTGTCCCCACAGGCCGGGGATCCCTGCGCACGGTCCCAGGCTGTCCTAGCTGAGGACGGAGCCGGTCATGCTGCGGGGCTGTGTCTCTTCCTGACTCACCCCCGTCCGGAGGGCCTTCTGCCTGAGGGACATTGCACCACCGGGCCAGGTAAGAAGCAGCTCTGAGAGCCTCCCGTGACAGCAACCACTGGGACGTTTTCTATTTGCCCAAATCGACCAGCAAGGGCCCGGCTCAGACGCCCCTGGGTCTGATGCGACCTGCCCTCCGCAGCAGGTCAGGCACCCTCCCTTGCTTGTATGCTCAGGACGGGGCTGCCCAGGCATCTTCTGGTCCCCCTGACTGTCCGGCGCCTGCCCGGCCGGCTCAGGTGCTGCAGGAAAGAGAAAACTCTGGGCCCAACGTCAACGTGCGTTCTCCACGCCCAGCAGGGGGCGCCGTTGCCCGCCCGAGCCCGGAGAGCCTGGGCTGCAGGGGAGGGCGCCACAGGTGAGGACACAGCTCCGTGGGCACCAGGCAAGGTCCCAAAGCAGATCCGCAGCCGGTCAGAGGAGCGCACATGGGTGAGCTTAAGCTAAGAAAGCAAGACTCACTAGGCAAGGACAGGGGCCCAGGACACCTGGCGGCGCCGAACCCTCGGCGGGGGCGGGGCCGGGGGCTGGCTGAGGCTTTCCCGGGTCAGCGCGCCCTCCCCTCCTGCAGCTCCACGAGATGTGACTATTCCTATCTGCTGGAGAACAGCCGTCCAGGGCCACCCCACGTCCTTCAAGGGGACTCTGAGACACTCTGGGCCGGTGGGACCTTCAGCAGCATCTGGACTTTGGCTGCCTCACAGGTGGGCGGGGGGGAGTGTTACACACAGGCCAGTTCACTGACTCAGCAGAAGAGAAACAGGAATCATCAGACTGTTCAACCCTGGGCTCCTCCCACGCCTGTGCTGAGGAAACCAACTGAGTGGGCAACCCTCACGTGTGTACACATGCCTGCACACACCTGCACACACAGGCCCATACCTGCACACCTGCATGTATGCATACATACACAAACATGGATGTGCACTGTGCGCACACACACATGCACGCCTGCNN
|
pathogenic
| 320,094 |
Evaluate if the mutation on chromosome 21 at position 44521955 in TSPEAR (thrombospondin type laminin G domain and EAR repeats) is benign or pathogenic. Disease name(s) if pathogenic?
|
pathogenic
|
CAGTGTGAGCCGCTACCACCACCTACCTCCTGAGGCTGTTACCAAGGCCAATGGCTGGAAGGAATCTTGCTCACCCCCAATCCCAGTGCACTGAGCCTCACTCTGCCCCCGTGGCAGGAGGCTCATCCCGCCTCTTCCTGGCTCCCAGGCACGCTCACCTGTTCCATCCACAGCACTAGCGAGCTCAAGGTGTGTTCCTTCTGGCACTGCTGCCTCCTCACCTGGGCGCCTGCGGCTCATCTGGGCGGCCACAGCAGCCTCCCAATGGCTCACTCCCTCCCAGCCACCGACCAGTCATTATCGTGCAGCCCTGTCAACCCCACAAGGGCAGGCTTCACGTTTCACTTGCAGCCTGTGGCTCTGGGTGGTGACCCTGCTGCCTACTCCCAGCCCCACTGCCCTGCAGGTACCCTCCCAACTTTCCCAGCCCTCACTTCCTCCTGGTGAGGGCTGGGAAAGTGGGGAGGGTGCTCCCTGACATCTGCTCTCCTCGTGCCCTGAACATCCACGTAAAGCTGCCCTTCCCCACTGGACCATGAGTGCCCGAAGGGTGGGGCGGTGGTCACCTGGATGACGCTGTGCCCCAGCCTGCCAGAGGGCTGAGCACGTGGGAGTCCCGGAGCAATTCTCTGCACGCATTAAGGCGTGTGATTGGTCCCTGTGAGCCGCGGCTCCTGGTCCGGCCCCTGCGGGCTTCTCAAGGTGGTCACACTCCCGGTTTCCTAAGCTGCTCTTACTCCTGCTGGGTGGAGGGGCTCCAGGAACCTGCGACTGCTGAACTCCATCTTCCTCCCTTCTGTTTTGAAGCTCATTCCCATGTGCTACCTGCAGGCTTGCTCTAATGAGATGTATGTATGGAATGTTATGTATGGAATGTTCCAGAATGCCTTCAATCATTTCAGCCATAAAGCCCCACCCACCACATGCACAGCTTCTTGTCTAATGCAGGGGTAGCCTGGCAAGGCCTGACTGTTGTCACTGTTTTTCCAGACTCCCTGATGGGGGCGGGGGGTCCGGGCATCAGCGTCTGCCATGGTTCTGCCCCTGTACCAGCCTCACTGGGACGTGGCATGGGGGCAGCTCACGTGGCAAGAGTGGCCTGGGTTAGTCTCACTGCCTCGGGTGCAGAAGGCCCTGAGAACATTTCTGCAGGGGAATGAGTCGCCAGGTCAGGGGGCACAGAAGATTCCAGAAGGACACCAGGGAGGTGATGTCTTATGAGAGGCACGCTTCCAGCAAACAGTGGGAGTGCTGTCACCGGCGCTGCAGAGCCCCTGAGCTGCCTCCTCCGGGGAACTGGGCTCACATAGAGGCTGAGCCCGAGGTGGGAGATGCGCCCCCACCTGTCTCGTACTCCGCACCTCTGCTCCGGTCACAGTCCTCAGCACACTTGCTGGGAGCAGGCAGCACGCTGTCCCTGCCCCTGGAGGTGGCCTAATAAGCACCTGTTGCTGCCTCAACTCAAAGGTCTCGTGGTGGCTGGAACCAGCCAAGGGACACTTGAGGCCTGGAGAGGAGCGCCACGTGCTGCCCCGACCCGGCCCCCACGCTGCCCTGGGTCAGAGCCAAGCTGCCCAGCTGCCCCAGGGCCAGGGCCCTGACGACCATACAGACTCAGATTAGACCGCGGGAGCTTCCAAGGGGAGGGAGGGCCTGTTCTGAGCCCGGGGGCTGCTTTATGGAGAACACCATGCCAGGGTGGGGCAGAGCCAGGGTGCGCCTCCTGCCTTATTTCCAGGCACCTGGACTGTCCCTGGGCGCACAGAGGCTCTCAGGCAAGAAGGGCTCAGACGCCAGGCAAGGATCCTGTGCCGTCCAGAGGAGCAGGCCCTGCCTGGGTTTTGGGGTCACGGGTGCAGAGCAGCACTAGGTTTGGCTCTCGGTGGACCCCCAGCCCACATCACCTGTCCAGCAGGTGCAGGTGACAGACGCAGTGGCCAGCAATGGAGAGCCGGGGCTCATGCGGGGGGCCTTACCGGGAAGGACTGGAAGAGCTGGAAGGAGCCCAGGAGTCGGATGTAGAGGTGCGAGTGCACCTTGGTGGAGGTGCCGTTGAAGGTGTTGGCCACCACCAGGAACGAGTAGGGCCCCACACTGAAGAACTCCCAGTCGTAGGCGCCGGAGGTGGCGATGGTCTGGTTGGCCTCGAAGAGCCGGGTTGCCGGGTTCCACTTGTAGATGACACTGTCGATGTTGTGGTTGTCGCCTGGAACCAAGGGACTGTGCTGGGGGCAGGGAGGCAGATTCCACAGCCCCATGGCAGCCCCGACGGAGGCAGAGCCCAGTCCAAGTCCCTCCCCGAGGACCGAAGACCCACGAGGACAAGGCCAACCGCTGGGGACATCCTTTCTTACCTTGAGCCTCCCGCCCTCAGCCCCTTGCTGACTGCACCTCTGGGCCATCACAGGTGCTATTCCCATATGGAAATGCTTGGTGGCCCCCACCGCCCTTGGGACAGGTGTACATCTCCATGGCCTCCCCGTGTCCTGGAGGTGGGGCCCACCGTGTCCTGGCCCCGCTGCCCACGGCTCTCCAGCATCCCCACAGGCCAGGCCTTCCCACGCACTGCCACCTCTGCCCGGAGGCCCCTCCCTCTCAACTGTGGAGCTCCCCCATTGGGTGGGTCGTGGGCTCAGGGGAGTGCAGAGCTGTGGAGCCTGGGCAGGGTTGGGTCTGGGAGGTCCTGCAGGCGGAGAGATGCCCCCAGACCCAGGCCGGCTCGTGGAGCTACACAATGGCAGGTACTCATGGTGGCCGCTCAGGGCAGTGTCCTGGCCTGGAAAGCAGGTGTCCCGGTACCTTCCAGGCCAGTGCTCCTCACTGTCTCTGCTGGCACAAGGCGGGACAGCTGCCTGTCCTCAGGAAACAAGGCCATGGAGGCCATCCAGATCCCATGTCCTCGGCAGCTGTCCTCCACCACACACCTGGCCATGCCAGGCACCAGGCCAGCATCCCTGCCATGGGCCTGGGCCCACCACCCAACATCTGCCCTCCCTGTGCTGGTCAGACCTTTCCTGCTGGGAGGCTGCTTAGTCTGTCAGTCAGTCATTGAGGTAGTCAGTCAGTCAGTTGTCAGTCAGTCAGATAGTCAGTCATCAGTTAGTCACTGAAACAGTTAGTCAAGTAGTCAGTCAGGTAGTTTGTCAGTCAGCCAGGTAGTTAGTCAGTTAGTCAGTCAGTCAGCCAGCCAGCCAGCCAATTAGTCAGTGAAGTAGTCAGTCAGCCAGTCAGTTAATTTGTCAGTCAGGTAGTTGGTCAGTCAGTCAGCCAGCCAGCCAGCCAATTAGTCAGTGAAGTAGTCAGTCAGCCAGTCAGTTAATTTGTCAGTCAGGTAGTTGGTCAGTCAGTCAGTTAGCCAGCCAGCCAATTAGTCAGTGAGGTATTCAGTCAGTCAGTCAGTTTGTCAGTCAGTCAGGTAGGTAGTCACTCAGTGAAGTGGTCGGTCAGTTGTGTCAGTCAGTCAGTAAGGTAGTCAGTTGGTCAGTCAGTTAGGTAGTTAATAAGTCAGGTAGTCAGGTAGTTAGTCAGGTAGTCAGTTAGGTAGTTAATAAGGTAATCAGTCAGTCAGGCAGTTAGTTTGGTAGTCGGTCAGGTAGGCAGTCAGTCGTCAGTCAGTCTGAGGTAGTTAAGTCATTGAGATGGTCAGTCAGTAAGTCAGTCAGTTAGGTCGTCAGTCAGTCAGTTCAGTAGTTAGGTAGTCAGTCATCAGTCAGGTAGTTAATCAGTCAGGTAGTCAGTCATCAGTGAGTGAGGTAGTCAGTTGTCAGGTAGTCATCAGCCAGTCAGATAGGCAGGTAGTTAGTCATCAGTCAGTCAGTCAGGTAGTCAGCCAGGTAGTTAATCAGTCAGCCAGTCAGTGAGGTAGTTAATCAGTTAGTCAGTGAGGTAGTCAGTCAGTCAGTCAGTCAGTCAGTTAGTCAGGTAATTAGGTAGTCAGCCAGTCAGTTCAGTGGCTAGTCAGGTAGTTGGTCAGTCATGAGTCAGGTTATTAATCAGTCAGGTAGTTTGTCAGTCAGTCAGTCAATTAGCCAGTGAGGTAGTCAGTCAGTCAGTTCAGTAGTTAGTCAGGTAGCCAGTCATCAGTCAGGTAGTCAGT
|
CAGTGTGAGCCGCTACCACCACCTACCTCCTGAGGCTGTTACCAAGGCCAATGGCTGGAAGGAATCTTGCTCACCCCCAATCCCAGTGCACTGAGCCTCACTCTGCCCCCGTGGCAGGAGGCTCATCCCGCCTCTTCCTGGCTCCCAGGCACGCTCACCTGTTCCATCCACAGCACTAGCGAGCTCAAGGTGTGTTCCTTCTGGCACTGCTGCCTCCTCACCTGGGCGCCTGCGGCTCATCTGGGCGGCCACAGCAGCCTCCCAATGGCTCACTCCCTCCCAGCCACCGACCAGTCATTATCGTGCAGCCCTGTCAACCCCACAAGGGCAGGCTTCACGTTTCACTTGCAGCCTGTGGCTCTGGGTGGTGACCCTGCTGCCTACTCCCAGCCCCACTGCCCTGCAGGTACCCTCCCAACTTTCCCAGCCCTCACTTCCTCCTGGTGAGGGCTGGGAAAGTGGGGAGGGTGCTCCCTGACATCTGCTCTCCTCGTGCCCTGAACATCCACGTAAAGCTGCCCTTCCCCACTGGACCATGAGTGCCCGAAGGGTGGGGCGGTGGTCACCTGGATGACGCTGTGCCCCAGCCTGCCAGAGGGCTGAGCACGTGGGAGTCCCGGAGCAATTCTCTGCACGCATTAAGGCGTGTGATTGGTCCCTGTGAGCCGCGGCTCCTGGTCCGGCCCCTGCGGGCTTCTCAAGGTGGTCACACTCCCGGTTTCCTAAGCTGCTCTTACTCCTGCTGGGTGGAGGGGCTCCAGGAACCTGCGACTGCTGAACTCCATCTTCCTCCCTTCTGTTTTGAAGCTCATTCCCATGTGCTACCTGCAGGCTTGCTCTAATGAGATGTATGTATGGAATGTTATGTATGGAATGTTCCAGAATGCCTTCAATCATTTCAGCCATAAAGCCCCACCCACCACATGCACAGCTTCTTGTCTAATGCAGGGGTAGCCTGGCAAGGCCTGACTGTTGTCACTGTTTTTCCAGACTCCCTGATGGGGGCGGGGGGTCCGGGCATCAGCGTCTGCCATGGTTCTGCCCCTGTACCAGCCTCACTGGGACGTGGCATGGGGGCAGCTCACGTGGCAAGAGTGGCCTGGGTTAGTCTCACTGCCTCGGGTGCAGAAGGCCCTGAGAACATTTCTGCAGGGGAATGAGTCGCCAGGTCAGGGGGCACAGAAGATTCCAGAAGGACACCAGGGAGGTGATGTCTTATGAGAGGCACGCTTCCAGCAAACAGTGGGAGTGCTGTCACCGGCGCTGCAGAGCCCCTGAGCTGCCTCCTCCGGGGAACTGGGCTCACATAGAGGCTGAGCCCGAGGTGGGAGATGCGCCCCCACCTGTCTCGTACTCCGCACCTCTGCTCCGGTCACAGTCCTCAGCACACTTGCTGGGAGCAGGCAGCACGCTGTCCCTGCCCCTGGAGGTGGCCTAATAAGCACCTGTTGCTGCCTCAACTCAAAGGTCTCGTGGTGGCTGGAACCAGCCAAGGGACACTTGAGGCCTGGAGAGGAGCGCCACGTGCTGCCCCGACCCGGCCCCCACGCTGCCCTGGGTCAGAGCCAAGCTGCCCAGCTGCCCCAGGGCCAGGGCCCTGACGACCATACAGACTCAGATTAGACCGCGGGAGCTTCCAAGGGGAGGGAGGGCCTGTTCTGAGCCCGGGGGCTGCTTTATGGAGAACACCATGCCAGGGTGGGGCAGAGCCAGGGTGCGCCTCCTGCCTTATTTCCAGGCACCTGGACTGTCCCTGGGCGCACAGAGGCTCTCAGGCAAGAAGGGCTCAGACGCCAGGCAAGGATCCTGTGCCGTCCAGAGGAGCAGGCCCTGCCTGGGTTTTGGGGTCACGGGTGCAGAGCAGCACTAGGTTTGGCTCTCGGTGGACCCCCAGCCCACATCACCTGTCCAGCAGGTGCAGGTGACAGACGCAGTGGCCAGCAATGGAGAGCCGGGGCTCATGCGGGGGGCCTTACCGGGAAGGACTGGAAGAGCTGGAAGGAGCCCAGGAGTCGGATGTAGAGGTGCGAGTGCACCTTGGTGGAGGTCACGTTGAAGGTGTTGGCCACCACCAGGAACGAGTAGGGCCCCACACTGAAGAACTCCCAGTCGTAGGCGCCGGAGGTGGCGATGGTCTGGTTGGCCTCGAAGAGCCGGGTTGCCGGGTTCCACTTGTAGATGACACTGTCGATGTTGTGGTTGTCGCCTGGAACCAAGGGACTGTGCTGGGGGCAGGGAGGCAGATTCCACAGCCCCATGGCAGCCCCGACGGAGGCAGAGCCCAGTCCAAGTCCCTCCCCGAGGACCGAAGACCCACGAGGACAAGGCCAACCGCTGGGGACATCCTTTCTTACCTTGAGCCTCCCGCCCTCAGCCCCTTGCTGACTGCACCTCTGGGCCATCACAGGTGCTATTCCCATATGGAAATGCTTGGTGGCCCCCACCGCCCTTGGGACAGGTGTACATCTCCATGGCCTCCCCGTGTCCTGGAGGTGGGGCCCACCGTGTCCTGGCCCCGCTGCCCACGGCTCTCCAGCATCCCCACAGGCCAGGCCTTCCCACGCACTGCCACCTCTGCCCGGAGGCCCCTCCCTCTCAACTGTGGAGCTCCCCCATTGGGTGGGTCGTGGGCTCAGGGGAGTGCAGAGCTGTGGAGCCTGGGCAGGGTTGGGTCTGGGAGGTCCTGCAGGCGGAGAGATGCCCCCAGACCCAGGCCGGCTCGTGGAGCTACACAATGGCAGGTACTCATGGTGGCCGCTCAGGGCAGTGTCCTGGCCTGGAAAGCAGGTGTCCCGGTACCTTCCAGGCCAGTGCTCCTCACTGTCTCTGCTGGCACAAGGCGGGACAGCTGCCTGTCCTCAGGAAACAAGGCCATGGAGGCCATCCAGATCCCATGTCCTCGGCAGCTGTCCTCCACCACACACCTGGCCATGCCAGGCACCAGGCCAGCATCCCTGCCATGGGCCTGGGCCCACCACCCAACATCTGCCCTCCCTGTGCTGGTCAGACCTTTCCTGCTGGGAGGCTGCTTAGTCTGTCAGTCAGTCATTGAGGTAGTCAGTCAGTCAGTTGTCAGTCAGTCAGATAGTCAGTCATCAGTTAGTCACTGAAACAGTTAGTCAAGTAGTCAGTCAGGTAGTTTGTCAGTCAGCCAGGTAGTTAGTCAGTTAGTCAGTCAGTCAGCCAGCCAGCCAGCCAATTAGTCAGTGAAGTAGTCAGTCAGCCAGTCAGTTAATTTGTCAGTCAGGTAGTTGGTCAGTCAGTCAGCCAGCCAGCCAGCCAATTAGTCAGTGAAGTAGTCAGTCAGCCAGTCAGTTAATTTGTCAGTCAGGTAGTTGGTCAGTCAGTCAGTTAGCCAGCCAGCCAATTAGTCAGTGAGGTATTCAGTCAGTCAGTCAGTTTGTCAGTCAGTCAGGTAGGTAGTCACTCAGTGAAGTGGTCGGTCAGTTGTGTCAGTCAGTCAGTAAGGTAGTCAGTTGGTCAGTCAGTTAGGTAGTTAATAAGTCAGGTAGTCAGGTAGTTAGTCAGGTAGTCAGTTAGGTAGTTAATAAGGTAATCAGTCAGTCAGGCAGTTAGTTTGGTAGTCGGTCAGGTAGGCAGTCAGTCGTCAGTCAGTCTGAGGTAGTTAAGTCATTGAGATGGTCAGTCAGTAAGTCAGTCAGTTAGGTCGTCAGTCAGTCAGTTCAGTAGTTAGGTAGTCAGTCATCAGTCAGGTAGTTAATCAGTCAGGTAGTCAGTCATCAGTGAGTGAGGTAGTCAGTTGTCAGGTAGTCATCAGCCAGTCAGATAGGCAGGTAGTTAGTCATCAGTCAGTCAGTCAGGTAGTCAGCCAGGTAGTTAATCAGTCAGCCAGTCAGTGAGGTAGTTAATCAGTTAGTCAGTGAGGTAGTCAGTCAGTCAGTCAGTCAGTCAGTTAGTCAGGTAATTAGGTAGTCAGCCAGTCAGTTCAGTGGCTAGTCAGGTAGTTGGTCAGTCATGAGTCAGGTTATTAATCAGTCAGGTAGTTTGTCAGTCAGTCAGTCAATTAGCCAGTGAGGTAGTCAGTCAGTCAGTTCAGTAGTTAGTCAGGTAGCCAGTCATCAGTCAGGTAGTCAGT
|
pathogenic
| 320,101 |
Gene TSPEAR (thrombospondin type laminin G domain and EAR repeats) variant at chromosome position 44521955 on chromosome 21: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic
|
CAGTGTGAGCCGCTACCACCACCTACCTCCTGAGGCTGTTACCAAGGCCAATGGCTGGAAGGAATCTTGCTCACCCCCAATCCCAGTGCACTGAGCCTCACTCTGCCCCCGTGGCAGGAGGCTCATCCCGCCTCTTCCTGGCTCCCAGGCACGCTCACCTGTTCCATCCACAGCACTAGCGAGCTCAAGGTGTGTTCCTTCTGGCACTGCTGCCTCCTCACCTGGGCGCCTGCGGCTCATCTGGGCGGCCACAGCAGCCTCCCAATGGCTCACTCCCTCCCAGCCACCGACCAGTCATTATCGTGCAGCCCTGTCAACCCCACAAGGGCAGGCTTCACGTTTCACTTGCAGCCTGTGGCTCTGGGTGGTGACCCTGCTGCCTACTCCCAGCCCCACTGCCCTGCAGGTACCCTCCCAACTTTCCCAGCCCTCACTTCCTCCTGGTGAGGGCTGGGAAAGTGGGGAGGGTGCTCCCTGACATCTGCTCTCCTCGTGCCCTGAACATCCACGTAAAGCTGCCCTTCCCCACTGGACCATGAGTGCCCGAAGGGTGGGGCGGTGGTCACCTGGATGACGCTGTGCCCCAGCCTGCCAGAGGGCTGAGCACGTGGGAGTCCCGGAGCAATTCTCTGCACGCATTAAGGCGTGTGATTGGTCCCTGTGAGCCGCGGCTCCTGGTCCGGCCCCTGCGGGCTTCTCAAGGTGGTCACACTCCCGGTTTCCTAAGCTGCTCTTACTCCTGCTGGGTGGAGGGGCTCCAGGAACCTGCGACTGCTGAACTCCATCTTCCTCCCTTCTGTTTTGAAGCTCATTCCCATGTGCTACCTGCAGGCTTGCTCTAATGAGATGTATGTATGGAATGTTATGTATGGAATGTTCCAGAATGCCTTCAATCATTTCAGCCATAAAGCCCCACCCACCACATGCACAGCTTCTTGTCTAATGCAGGGGTAGCCTGGCAAGGCCTGACTGTTGTCACTGTTTTTCCAGACTCCCTGATGGGGGCGGGGGGTCCGGGCATCAGCGTCTGCCATGGTTCTGCCCCTGTACCAGCCTCACTGGGACGTGGCATGGGGGCAGCTCACGTGGCAAGAGTGGCCTGGGTTAGTCTCACTGCCTCGGGTGCAGAAGGCCCTGAGAACATTTCTGCAGGGGAATGAGTCGCCAGGTCAGGGGGCACAGAAGATTCCAGAAGGACACCAGGGAGGTGATGTCTTATGAGAGGCACGCTTCCAGCAAACAGTGGGAGTGCTGTCACCGGCGCTGCAGAGCCCCTGAGCTGCCTCCTCCGGGGAACTGGGCTCACATAGAGGCTGAGCCCGAGGTGGGAGATGCGCCCCCACCTGTCTCGTACTCCGCACCTCTGCTCCGGTCACAGTCCTCAGCACACTTGCTGGGAGCAGGCAGCACGCTGTCCCTGCCCCTGGAGGTGGCCTAATAAGCACCTGTTGCTGCCTCAACTCAAAGGTCTCGTGGTGGCTGGAACCAGCCAAGGGACACTTGAGGCCTGGAGAGGAGCGCCACGTGCTGCCCCGACCCGGCCCCCACGCTGCCCTGGGTCAGAGCCAAGCTGCCCAGCTGCCCCAGGGCCAGGGCCCTGACGACCATACAGACTCAGATTAGACCGCGGGAGCTTCCAAGGGGAGGGAGGGCCTGTTCTGAGCCCGGGGGCTGCTTTATGGAGAACACCATGCCAGGGTGGGGCAGAGCCAGGGTGCGCCTCCTGCCTTATTTCCAGGCACCTGGACTGTCCCTGGGCGCACAGAGGCTCTCAGGCAAGAAGGGCTCAGACGCCAGGCAAGGATCCTGTGCCGTCCAGAGGAGCAGGCCCTGCCTGGGTTTTGGGGTCACGGGTGCAGAGCAGCACTAGGTTTGGCTCTCGGTGGACCCCCAGCCCACATCACCTGTCCAGCAGGTGCAGGTGACAGACGCAGTGGCCAGCAATGGAGAGCCGGGGCTCATGCGGGGGGCCTTACCGGGAAGGACTGGAAGAGCTGGAAGGAGCCCAGGAGTCGGATGTAGAGGTGCGAGTGCACCTTGGTGGAGGTGCCGTTGAAGGTGTTGGCCACCACCAGGAACGAGTAGGGCCCCACACTGAAGAACTCCCAGTCGTAGGCGCCGGAGGTGGCGATGGTCTGGTTGGCCTCGAAGAGCCGGGTTGCCGGGTTCCACTTGTAGATGACACTGTCGATGTTGTGGTTGTCGCCTGGAACCAAGGGACTGTGCTGGGGGCAGGGAGGCAGATTCCACAGCCCCATGGCAGCCCCGACGGAGGCAGAGCCCAGTCCAAGTCCCTCCCCGAGGACCGAAGACCCACGAGGACAAGGCCAACCGCTGGGGACATCCTTTCTTACCTTGAGCCTCCCGCCCTCAGCCCCTTGCTGACTGCACCTCTGGGCCATCACAGGTGCTATTCCCATATGGAAATGCTTGGTGGCCCCCACCGCCCTTGGGACAGGTGTACATCTCCATGGCCTCCCCGTGTCCTGGAGGTGGGGCCCACCGTGTCCTGGCCCCGCTGCCCACGGCTCTCCAGCATCCCCACAGGCCAGGCCTTCCCACGCACTGCCACCTCTGCCCGGAGGCCCCTCCCTCTCAACTGTGGAGCTCCCCCATTGGGTGGGTCGTGGGCTCAGGGGAGTGCAGAGCTGTGGAGCCTGGGCAGGGTTGGGTCTGGGAGGTCCTGCAGGCGGAGAGATGCCCCCAGACCCAGGCCGGCTCGTGGAGCTACACAATGGCAGGTACTCATGGTGGCCGCTCAGGGCAGTGTCCTGGCCTGGAAAGCAGGTGTCCCGGTACCTTCCAGGCCAGTGCTCCTCACTGTCTCTGCTGGCACAAGGCGGGACAGCTGCCTGTCCTCAGGAAACAAGGCCATGGAGGCCATCCAGATCCCATGTCCTCGGCAGCTGTCCTCCACCACACACCTGGCCATGCCAGGCACCAGGCCAGCATCCCTGCCATGGGCCTGGGCCCACCACCCAACATCTGCCCTCCCTGTGCTGGTCAGACCTTTCCTGCTGGGAGGCTGCTTAGTCTGTCAGTCAGTCATTGAGGTAGTCAGTCAGTCAGTTGTCAGTCAGTCAGATAGTCAGTCATCAGTTAGTCACTGAAACAGTTAGTCAAGTAGTCAGTCAGGTAGTTTGTCAGTCAGCCAGGTAGTTAGTCAGTTAGTCAGTCAGTCAGCCAGCCAGCCAGCCAATTAGTCAGTGAAGTAGTCAGTCAGCCAGTCAGTTAATTTGTCAGTCAGGTAGTTGGTCAGTCAGTCAGCCAGCCAGCCAGCCAATTAGTCAGTGAAGTAGTCAGTCAGCCAGTCAGTTAATTTGTCAGTCAGGTAGTTGGTCAGTCAGTCAGTTAGCCAGCCAGCCAATTAGTCAGTGAGGTATTCAGTCAGTCAGTCAGTTTGTCAGTCAGTCAGGTAGGTAGTCACTCAGTGAAGTGGTCGGTCAGTTGTGTCAGTCAGTCAGTAAGGTAGTCAGTTGGTCAGTCAGTTAGGTAGTTAATAAGTCAGGTAGTCAGGTAGTTAGTCAGGTAGTCAGTTAGGTAGTTAATAAGGTAATCAGTCAGTCAGGCAGTTAGTTTGGTAGTCGGTCAGGTAGGCAGTCAGTCGTCAGTCAGTCTGAGGTAGTTAAGTCATTGAGATGGTCAGTCAGTAAGTCAGTCAGTTAGGTCGTCAGTCAGTCAGTTCAGTAGTTAGGTAGTCAGTCATCAGTCAGGTAGTTAATCAGTCAGGTAGTCAGTCATCAGTGAGTGAGGTAGTCAGTTGTCAGGTAGTCATCAGCCAGTCAGATAGGCAGGTAGTTAGTCATCAGTCAGTCAGTCAGGTAGTCAGCCAGGTAGTTAATCAGTCAGCCAGTCAGTGAGGTAGTTAATCAGTTAGTCAGTGAGGTAGTCAGTCAGTCAGTCAGTCAGTCAGTTAGTCAGGTAATTAGGTAGTCAGCCAGTCAGTTCAGTGGCTAGTCAGGTAGTTGGTCAGTCATGAGTCAGGTTATTAATCAGTCAGGTAGTTTGTCAGTCAGTCAGTCAATTAGCCAGTGAGGTAGTCAGTCAGTCAGTTCAGTAGTTAGTCAGGTAGCCAGTCATCAGTCAGGTAGTCAGT
|
CAGTGTGAGCCGCTACCACCACCTACCTCCTGAGGCTGTTACCAAGGCCAATGGCTGGAAGGAATCTTGCTCACCCCCAATCCCAGTGCACTGAGCCTCACTCTGCCCCCGTGGCAGGAGGCTCATCCCGCCTCTTCCTGGCTCCCAGGCACGCTCACCTGTTCCATCCACAGCACTAGCGAGCTCAAGGTGTGTTCCTTCTGGCACTGCTGCCTCCTCACCTGGGCGCCTGCGGCTCATCTGGGCGGCCACAGCAGCCTCCCAATGGCTCACTCCCTCCCAGCCACCGACCAGTCATTATCGTGCAGCCCTGTCAACCCCACAAGGGCAGGCTTCACGTTTCACTTGCAGCCTGTGGCTCTGGGTGGTGACCCTGCTGCCTACTCCCAGCCCCACTGCCCTGCAGGTACCCTCCCAACTTTCCCAGCCCTCACTTCCTCCTGGTGAGGGCTGGGAAAGTGGGGAGGGTGCTCCCTGACATCTGCTCTCCTCGTGCCCTGAACATCCACGTAAAGCTGCCCTTCCCCACTGGACCATGAGTGCCCGAAGGGTGGGGCGGTGGTCACCTGGATGACGCTGTGCCCCAGCCTGCCAGAGGGCTGAGCACGTGGGAGTCCCGGAGCAATTCTCTGCACGCATTAAGGCGTGTGATTGGTCCCTGTGAGCCGCGGCTCCTGGTCCGGCCCCTGCGGGCTTCTCAAGGTGGTCACACTCCCGGTTTCCTAAGCTGCTCTTACTCCTGCTGGGTGGAGGGGCTCCAGGAACCTGCGACTGCTGAACTCCATCTTCCTCCCTTCTGTTTTGAAGCTCATTCCCATGTGCTACCTGCAGGCTTGCTCTAATGAGATGTATGTATGGAATGTTATGTATGGAATGTTCCAGAATGCCTTCAATCATTTCAGCCATAAAGCCCCACCCACCACATGCACAGCTTCTTGTCTAATGCAGGGGTAGCCTGGCAAGGCCTGACTGTTGTCACTGTTTTTCCAGACTCCCTGATGGGGGCGGGGGGTCCGGGCATCAGCGTCTGCCATGGTTCTGCCCCTGTACCAGCCTCACTGGGACGTGGCATGGGGGCAGCTCACGTGGCAAGAGTGGCCTGGGTTAGTCTCACTGCCTCGGGTGCAGAAGGCCCTGAGAACATTTCTGCAGGGGAATGAGTCGCCAGGTCAGGGGGCACAGAAGATTCCAGAAGGACACCAGGGAGGTGATGTCTTATGAGAGGCACGCTTCCAGCAAACAGTGGGAGTGCTGTCACCGGCGCTGCAGAGCCCCTGAGCTGCCTCCTCCGGGGAACTGGGCTCACATAGAGGCTGAGCCCGAGGTGGGAGATGCGCCCCCACCTGTCTCGTACTCCGCACCTCTGCTCCGGTCACAGTCCTCAGCACACTTGCTGGGAGCAGGCAGCACGCTGTCCCTGCCCCTGGAGGTGGCCTAATAAGCACCTGTTGCTGCCTCAACTCAAAGGTCTCGTGGTGGCTGGAACCAGCCAAGGGACACTTGAGGCCTGGAGAGGAGCGCCACGTGCTGCCCCGACCCGGCCCCCACGCTGCCCTGGGTCAGAGCCAAGCTGCCCAGCTGCCCCAGGGCCAGGGCCCTGACGACCATACAGACTCAGATTAGACCGCGGGAGCTTCCAAGGGGAGGGAGGGCCTGTTCTGAGCCCGGGGGCTGCTTTATGGAGAACACCATGCCAGGGTGGGGCAGAGCCAGGGTGCGCCTCCTGCCTTATTTCCAGGCACCTGGACTGTCCCTGGGCGCACAGAGGCTCTCAGGCAAGAAGGGCTCAGACGCCAGGCAAGGATCCTGTGCCGTCCAGAGGAGCAGGCCCTGCCTGGGTTTTGGGGTCACGGGTGCAGAGCAGCACTAGGTTTGGCTCTCGGTGGACCCCCAGCCCACATCACCTGTCCAGCAGGTGCAGGTGACAGACGCAGTGGCCAGCAATGGAGAGCCGGGGCTCATGCGGGGGGCCTTACCGGGAAGGACTGGAAGAGCTGGAAGGAGCCCAGGAGTCGGATGTAGAGGTGCGAGTGCACCTTGGTGGAGGTGCGTTGAAGGTGTTGGCCACCACCAGGAACGAGTAGGGCCCCACACTGAAGAACTCCCAGTCGTAGGCGCCGGAGGTGGCGATGGTCTGGTTGGCCTCGAAGAGCCGGGTTGCCGGGTTCCACTTGTAGATGACACTGTCGATGTTGTGGTTGTCGCCTGGAACCAAGGGACTGTGCTGGGGGCAGGGAGGCAGATTCCACAGCCCCATGGCAGCCCCGACGGAGGCAGAGCCCAGTCCAAGTCCCTCCCCGAGGACCGAAGACCCACGAGGACAAGGCCAACCGCTGGGGACATCCTTTCTTACCTTGAGCCTCCCGCCCTCAGCCCCTTGCTGACTGCACCTCTGGGCCATCACAGGTGCTATTCCCATATGGAAATGCTTGGTGGCCCCCACCGCCCTTGGGACAGGTGTACATCTCCATGGCCTCCCCGTGTCCTGGAGGTGGGGCCCACCGTGTCCTGGCCCCGCTGCCCACGGCTCTCCAGCATCCCCACAGGCCAGGCCTTCCCACGCACTGCCACCTCTGCCCGGAGGCCCCTCCCTCTCAACTGTGGAGCTCCCCCATTGGGTGGGTCGTGGGCTCAGGGGAGTGCAGAGCTGTGGAGCCTGGGCAGGGTTGGGTCTGGGAGGTCCTGCAGGCGGAGAGATGCCCCCAGACCCAGGCCGGCTCGTGGAGCTACACAATGGCAGGTACTCATGGTGGCCGCTCAGGGCAGTGTCCTGGCCTGGAAAGCAGGTGTCCCGGTACCTTCCAGGCCAGTGCTCCTCACTGTCTCTGCTGGCACAAGGCGGGACAGCTGCCTGTCCTCAGGAAACAAGGCCATGGAGGCCATCCAGATCCCATGTCCTCGGCAGCTGTCCTCCACCACACACCTGGCCATGCCAGGCACCAGGCCAGCATCCCTGCCATGGGCCTGGGCCCACCACCCAACATCTGCCCTCCCTGTGCTGGTCAGACCTTTCCTGCTGGGAGGCTGCTTAGTCTGTCAGTCAGTCATTGAGGTAGTCAGTCAGTCAGTTGTCAGTCAGTCAGATAGTCAGTCATCAGTTAGTCACTGAAACAGTTAGTCAAGTAGTCAGTCAGGTAGTTTGTCAGTCAGCCAGGTAGTTAGTCAGTTAGTCAGTCAGTCAGCCAGCCAGCCAGCCAATTAGTCAGTGAAGTAGTCAGTCAGCCAGTCAGTTAATTTGTCAGTCAGGTAGTTGGTCAGTCAGTCAGCCAGCCAGCCAGCCAATTAGTCAGTGAAGTAGTCAGTCAGCCAGTCAGTTAATTTGTCAGTCAGGTAGTTGGTCAGTCAGTCAGTTAGCCAGCCAGCCAATTAGTCAGTGAGGTATTCAGTCAGTCAGTCAGTTTGTCAGTCAGTCAGGTAGGTAGTCACTCAGTGAAGTGGTCGGTCAGTTGTGTCAGTCAGTCAGTAAGGTAGTCAGTTGGTCAGTCAGTTAGGTAGTTAATAAGTCAGGTAGTCAGGTAGTTAGTCAGGTAGTCAGTTAGGTAGTTAATAAGGTAATCAGTCAGTCAGGCAGTTAGTTTGGTAGTCGGTCAGGTAGGCAGTCAGTCGTCAGTCAGTCTGAGGTAGTTAAGTCATTGAGATGGTCAGTCAGTAAGTCAGTCAGTTAGGTCGTCAGTCAGTCAGTTCAGTAGTTAGGTAGTCAGTCATCAGTCAGGTAGTTAATCAGTCAGGTAGTCAGTCATCAGTGAGTGAGGTAGTCAGTTGTCAGGTAGTCATCAGCCAGTCAGATAGGCAGGTAGTTAGTCATCAGTCAGTCAGTCAGGTAGTCAGCCAGGTAGTTAATCAGTCAGCCAGTCAGTGAGGTAGTTAATCAGTTAGTCAGTGAGGTAGTCAGTCAGTCAGTCAGTCAGTCAGTTAGTCAGGTAATTAGGTAGTCAGCCAGTCAGTTCAGTGGCTAGTCAGGTAGTTGGTCAGTCATGAGTCAGGTTATTAATCAGTCAGGTAGTTTGTCAGTCAGTCAGTCAATTAGCCAGTGAGGTAGTCAGTCAGTCAGTTCAGTAGTTAGTCAGGTAGCCAGTCATCAGTCAGGTAGTCAGTN
|
pathogenic
| 320,102 |
Mutation found at chromosome 21 position 44525810, gene TSPEAR (thrombospondin type laminin G domain and EAR repeats): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Ectodermal_dysplasia_14,_hair/tooth_type_with_or_without_hypohidrosis']
|
AGTGAGGTAGTTAATCAGTTAGTCAGTGAGGTAGTCAGTCAGTCAGTCAGTCAGTCAGTTAGTCAGGTAATTAGGTAGTCAGCCAGTCAGTTCAGTGGCTAGTCAGGTAGTTGGTCAGTCATGAGTCAGGTTATTAATCAGTCAGGTAGTTTGTCAGTCAGTCAGTCAATTAGCCAGTGAGGTAGTCAGTCAGTCAGTTCAGTAGTTAGTCAGGTAGCCAGTCATCAGTCAGGTAGTCAGTCAGGTAGTTAGTCATCAGTCAGGTAGTTAGTCAGTTGTCAGGTAGTCACTCAGTCATCAGTCAGTCAGGTAGTTAGGCAATCAGTCAATAAGTGAGGTAGTCAGGTAGTCAGTCAGATAGTCAGTCAGTCAGTGAGGTAGTCAGTCAGCTAGTCAAGTAGTTAGGTAATCAGTCAGTCAGACAGTCAGGTAGTTAGGCAGGTAGTCACTCCATCAGTCAGTCAGTCAGTCAGTGAGGTAGTCCATCAGTCAGCCAGCCAGCCAGCCAGTCAGGTAGTTAGTCAACTAATCATTCAGTCAGTCAGACAGTCAGGTAGTTAGTCAGTCAGATAGTAAGTCAGTTAATGAGTTAGCCAGTCAGGTAGCTAGTCAGGTAATCAGTCAGTTAGTGGGAGAGTCAGGTAATTAGGTAGTCAGTCAGGCAGTCAATCAATGAGTCAGTTAGTTAGTCAGCCAGTCAGGTAGTTAGGTAGTCAGTCAGTCAGGTAGTTAGTCAGGTAGTCAGTCAGGCAGTCAGTCAGTCAGACAAGTAGTCAGTAAGGTAACCAGTCAGTGATGTAGTCAGGTAGTCAGTCAATCAGTTAGTCAGGTAGTTAGCCAGTTAGTCATGTAATCAGTCAGTCAGGTAGTCAGTCATCAGTCAGTTAGGTAGTTAGTCATCAGTTAGTCAGTTAGGTAATTAGTCAGTCAGCTAGTCAGTTAATCAGGTAGTTAGGTAATCAGTCAGTGAGACAGTCAGTCAATCAGTCAGTAAGGTAGTCAGTCAGGTAATTAGTAGTCAGTCAGAGAGTCAGGTAGTCATTCAGATAGACAGTCAGGTAGTTAGTCAATCAGTCAGTGAGGTAGTCAGTCAGCCAATAGCCAGTCAGCCAGTCAGGTAGTTAGTCAGGTAATCAGTCAGTCAGTCAGATAGTCAGGTAGTTAGTCATTCAGGTAGTCAGTCAGTCAGTCAGTCACTCTTTGAGGCAGTCAGTCAGTCAGTCAGTCAGTGAGGCAGTCAGCCAGCCAGCCAGTCAGATAGTTAGTCATTCAGGTGGTCAGTCAGTCAGGTAGTTAGTCAGATAGTCAGTCAGTTAGCCAGTCAGCTAGTCATTCAGGTTGTCAGTCAGCCAATCAGGTATCAGTCAGGTAGTCAGTCAGACAGTCAGGTAGTTAGTCAGTCAGTCAGTCAGTGAAGTAGTCAGTCAGTCTGTGATGTAGTTGGTCATTCAGGTCGTCAATCAGTCAGTCAGGTAGTTAGTCATGTAATTAGTCAAGTAGTTAGTCAAGAAGTCAGGTAATTTAGTCAATCAGTCATCAGGCAGTCAGTCATCAGGTAATTAGGTAGTCAGTCGGGTAGTCAGTGAGTTAGGTAGTTAATCAGCTAGTCAGTCAGTCAGTTTCAGACAAGGAGGGAGGCTGGCAGGTATTCTGTGCTGGGAGTCAGTCTGGCAGTCCATGTTTCTGGGGTGGCTGTGCTGTGGGCAGGTGCCCCAGGGACCACCAGTAGATGTCCCTCCCCCAGACAGTGAGGAACGGTCCAGAACGCATGTTCACCCTGTGCTGCATGTGGCTTATTGTTTTCTAATAAGATACACATTCGCCCTGCCTGCAAGTCTCGCTCTGCCCCTGGAATGGTTGCCTCCCGGTGTGAAGGCCACTCCTGCCCTACCTTCCCGGTGGTTGGCCACCGCCAGGAAGTGCTCCCCATCCACCTCGAAGGCCTCCCAGTCTCGGGCGCTGTGTGTGGCAATGCTCTGATATGGGGTAAACTTCAGCTTTCTGTGGCTCCATTTGTAAATGACAGAGAACTCCTGACCCTTCTCATCTGGTTCAAAATTAGCCACTGCCAGGAAGATCTGAAAGAGAGTAAACCGGGACCACGTGGTTCTGCTTGGGTCGGTGCCAGCGGCCTGGTTTCTGAAGGCTTCTGAACATCAGCATCTCTCTCCAGATCCACGGCTGCTACGTGGTGCAGGGACAGAGGACCGAGGCCCCCGCATTACAGGTCATCATGGTGGGGTGGGCGCAGAGCCGGTCATTACATTCATCAAGACCCTTGAAAATGTCCATATTCTTTACCCAATATTTCCACTTCTATTGCTATCTGAAGGCAAAAACACAAAAGCCAAAATTCCCAAATTCAGGAAAAGCTTTATGCACAAAAATGTTCTTCATAACCCAGATGACCAGAAAAACGCATCACAACCTGCTCTCCTGTGTTATGGGTGTGATCACCACGCAAAGCTGTGTCAGGGCAATGTGTGTAAAACATGAACATGGCGCAATGTGCCCAGGGCTCATAGTGTAGCTGTGTGAACATACAGAATGAGGGGCAAGGTGCATGGTTCATGGACGATGTGCTTGGAGGCAAGGACGCCACATGAACCTACGTACTTGCTTGGATGATGGAACAAAATATTGTCCCCTTTGCTTTTCTGAATTTTCCAATTGTTCTTTGATGCAAAGTTTTTTTTATAACAAAAAATTAAAACCTTATGATGTCATCAATCAAAAAAAAAAAAACCAACTAGTTATTCACCCGCCATGCTGGATGCAAATGCAGCCTGCATGAGGGTGGCTGTAAGCCACAGGAGAGCAGTTTCCATCTGCTGTGTTCACTGCTTTAGCCCTGTGTCCAGGCAGGGCCTGGTGGGCCTCCTTGGCACATTGTAGGCCAGTGAGTGACTATTTGGGGGCAGTCAGGAGGTGCTGTCTCTAGGACATGGCTGTGTAGAGTCCAGGGAGTGGACGGAGCTGGGAAGAGGAAACCCCATCCTTCCCATTGGGATGTCAACCATCTCCCAGACCCACCACCTCGACCCTCTGCCCAGAGCAGCCCTGACAGGAAGGTGGCTGTCAGCCTGCGAGGTCCCACCCATGGCTCCCCTGAGCCTGGCCTCAGCCTTGCATGTGGACATCACGTGTCCTCAACATTTGAGGAAAGGAAGGATCAGGAATGTCCATTTTCTAGTGTCTTTCTGAAACGATTTGTGGGTTCTTGACCAGCTCATGTAAACACTCTCAACAGGTTTTAAATGTAGTGACGAGGGGTCTATGTAGAACGAGATGGCATGTGGGAAATGGTCTGGTCGTCCGTTTTGCGGGAGCCAAGCAGACTGCCTCAAAGTCACATCCTGGATTTAGGGTGGTGGGCTCACGTGTGCGACTCTGTCAGCCTTTTACCGCCTGAACGAGGTGACACCGTGAGAAACTCCTTTACCTGCAGAATCAGTGTAGGGGGCCCCGCCTGTGGACTCGGGGCTTTCCAAGAGAAAGGGGATGGAGAAAGTCACCGAACACAGACTTGCCTTTTTCCCGATGGTGAAATGCCTCCAGGCCTGTGCTTGGTGCGTGGGGATGTTCTGATATGAGACGAACTTCTCTTCGGTCCACTTGTAGACGGCGGATGTGGCTTTGCGATTGGCTGTGGCCACAAAGAGCCCCACCTGAGGGATGCGGAACACCTCAATGCCCAGGGTCTCTGAGTTGGTGGACAAGTTCTGATGCTCCTCCACGTAGTCCAGTCTTTCTTTGGCTTGTGATAGAAACGTTGTGACTCGGTTAAGATTTCCGAGAACGGAAATCCAGAGCAATCCTCGCGGGAGCGCGATTCCCAAGCCCCAAGTCACAAGCCACGACTCCTGCGCCTCAGCCTCGGGCATCAGTTTCCACGTTTCGCTCTCACAGGAAAGGCCTGTCAAAGGGAGGCCACTCACTGCTGCCAGGGGCTTTGTGATCTGTGCAGCCCCCAGTGAAGTTTACATGTTGTGGGTTGTGGCCTTGTTAAAAGGCTCACTGCTTCTACGGCAAGTTGTGCTCTCGATAATGTGAAAGAGAGCAGCTCACACACGTGCTGGGCGGAACCCATGCCCAT
|
AGTGAGGTAGTTAATCAGTTAGTCAGTGAGGTAGTCAGTCAGTCAGTCAGTCAGTCAGTTAGTCAGGTAATTAGGTAGTCAGCCAGTCAGTTCAGTGGCTAGTCAGGTAGTTGGTCAGTCATGAGTCAGGTTATTAATCAGTCAGGTAGTTTGTCAGTCAGTCAGTCAATTAGCCAGTGAGGTAGTCAGTCAGTCAGTTCAGTAGTTAGTCAGGTAGCCAGTCATCAGTCAGGTAGTCAGTCAGGTAGTTAGTCATCAGTCAGGTAGTTAGTCAGTTGTCAGGTAGTCACTCAGTCATCAGTCAGTCAGGTAGTTAGGCAATCAGTCAATAAGTGAGGTAGTCAGGTAGTCAGTCAGATAGTCAGTCAGTCAGTGAGGTAGTCAGTCAGCTAGTCAAGTAGTTAGGTAATCAGTCAGTCAGACAGTCAGGTAGTTAGGCAGGTAGTCACTCCATCAGTCAGTCAGTCAGTCAGTGAGGTAGTCCATCAGTCAGCCAGCCAGCCAGCCAGTCAGGTAGTTAGTCAACTAATCATTCAGTCAGTCAGACAGTCAGGTAGTTAGTCAGTCAGATAGTAAGTCAGTTAATGAGTTAGCCAGTCAGGTAGCTAGTCAGGTAATCAGTCAGTTAGTGGGAGAGTCAGGTAATTAGGTAGTCAGTCAGGCAGTCAATCAATGAGTCAGTTAGTTAGTCAGCCAGTCAGGTAGTTAGGTAGTCAGTCAGTCAGGTAGTTAGTCAGGTAGTCAGTCAGGCAGTCAGTCAGTCAGACAAGTAGTCAGTAAGGTAACCAGTCAGTGATGTAGTCAGGTAGTCAGTCAATCAGTTAGTCAGGTAGTTAGCCAGTTAGTCATGTAATCAGTCAGTCAGGTAGTCAGTCATCAGTCAGTTAGGTAGTTAGTCATCAGTTAGTCAGTTAGGTAATTAGTCAGTCAGCTAGTCAGTTAATCAGGTAGTTAGGTAATCAGTCAGTGAGACAGTCAGTCAATCAGTCAGTAAGGTAGTCAGTCAGGTAATTAGTAGTCAGTCAGAGAGTCAGGTAGTCATTCAGATAGACAGTCAGGTAGTTAGTCAATCAGTCAGTGAGGTAGTCAGTCAGCCAATAGCCAGTCAGCCAGTCAGGTAGTTAGTCAGGTAATCAGTCAGTCAGTCAGATAGTCAGGTAGTTAGTCATTCAGGTAGTCAGTCAGTCAGTCAGTCACTCTTTGAGGCAGTCAGTCAGTCAGTCAGTCAGTGAGGCAGTCAGCCAGCCAGCCAGTCAGATAGTTAGTCATTCAGGTGGTCAGTCAGTCAGGTAGTTAGTCAGATAGTCAGTCAGTTAGCCAGTCAGCTAGTCATTCAGGTTGTCAGTCAGCCAATCAGGTATCAGTCAGGTAGTCAGTCAGACAGTCAGGTAGTTAGTCAGTCAGTCAGTCAGTGAAGTAGTCAGTCAGTCTGTGATGTAGTTGGTCATTCAGGTCGTCAATCAGTCAGTCAGGTAGTTAGTCATGTAATTAGTCAAGTAGTTAGTCAAGAAGTCAGGTAATTTAGTCAATCAGTCATCAGGCAGTCAGTCATCAGGTAATTAGGTAGTCAGTCGGGTAGTCAGTGAGTTAGGTAGTTAATCAGCTAGTCAGTCAGTCAGTTTCAGACAAGGAGGGAGGCTGGCAGGTATTCTGTGCTGGGAGTCAGTCTGGCAGTCCATGTTTCTGGGGTGGCTGTGCTGTGGGCAGGTGCCCCAGGGACCACCAGTAGATGTCCCTCCCCCAGACAGTGAGGAACGGTCCAGAACGCATGTTCACCCTGTGCTGCATGTGGCTTATTGTTTTCTAATAAGATACACATTCGCCCTGCCTGCAAGTCTCGCTCTGCCCCTGGAATGGTTGCCTCCCGGTGTGAAGGCCACTCCTGCCCTACCTTCCCGGTGGTTGGCCACCGCCAGGAAGTGCTCCCCATCCACCTCGAAGGCCTCCCAGTCTCGGGCGCTGTGTGTGGCAATGCTCTGATATGGGGTAAACTTCAGCTTTCTGTGGCTCCATTTGTAAATGACAGAGAACTCCTGACCCTTCTCATCTGTTCAAAATTAGCCACTGCCAGGAAGATCTGAAAGAGAGTAAACCGGGACCACGTGGTTCTGCTTGGGTCGGTGCCAGCGGCCTGGTTTCTGAAGGCTTCTGAACATCAGCATCTCTCTCCAGATCCACGGCTGCTACGTGGTGCAGGGACAGAGGACCGAGGCCCCCGCATTACAGGTCATCATGGTGGGGTGGGCGCAGAGCCGGTCATTACATTCATCAAGACCCTTGAAAATGTCCATATTCTTTACCCAATATTTCCACTTCTATTGCTATCTGAAGGCAAAAACACAAAAGCCAAAATTCCCAAATTCAGGAAAAGCTTTATGCACAAAAATGTTCTTCATAACCCAGATGACCAGAAAAACGCATCACAACCTGCTCTCCTGTGTTATGGGTGTGATCACCACGCAAAGCTGTGTCAGGGCAATGTGTGTAAAACATGAACATGGCGCAATGTGCCCAGGGCTCATAGTGTAGCTGTGTGAACATACAGAATGAGGGGCAAGGTGCATGGTTCATGGACGATGTGCTTGGAGGCAAGGACGCCACATGAACCTACGTACTTGCTTGGATGATGGAACAAAATATTGTCCCCTTTGCTTTTCTGAATTTTCCAATTGTTCTTTGATGCAAAGTTTTTTTTATAACAAAAAATTAAAACCTTATGATGTCATCAATCAAAAAAAAAAAAACCAACTAGTTATTCACCCGCCATGCTGGATGCAAATGCAGCCTGCATGAGGGTGGCTGTAAGCCACAGGAGAGCAGTTTCCATCTGCTGTGTTCACTGCTTTAGCCCTGTGTCCAGGCAGGGCCTGGTGGGCCTCCTTGGCACATTGTAGGCCAGTGAGTGACTATTTGGGGGCAGTCAGGAGGTGCTGTCTCTAGGACATGGCTGTGTAGAGTCCAGGGAGTGGACGGAGCTGGGAAGAGGAAACCCCATCCTTCCCATTGGGATGTCAACCATCTCCCAGACCCACCACCTCGACCCTCTGCCCAGAGCAGCCCTGACAGGAAGGTGGCTGTCAGCCTGCGAGGTCCCACCCATGGCTCCCCTGAGCCTGGCCTCAGCCTTGCATGTGGACATCACGTGTCCTCAACATTTGAGGAAAGGAAGGATCAGGAATGTCCATTTTCTAGTGTCTTTCTGAAACGATTTGTGGGTTCTTGACCAGCTCATGTAAACACTCTCAACAGGTTTTAAATGTAGTGACGAGGGGTCTATGTAGAACGAGATGGCATGTGGGAAATGGTCTGGTCGTCCGTTTTGCGGGAGCCAAGCAGACTGCCTCAAAGTCACATCCTGGATTTAGGGTGGTGGGCTCACGTGTGCGACTCTGTCAGCCTTTTACCGCCTGAACGAGGTGACACCGTGAGAAACTCCTTTACCTGCAGAATCAGTGTAGGGGGCCCCGCCTGTGGACTCGGGGCTTTCCAAGAGAAAGGGGATGGAGAAAGTCACCGAACACAGACTTGCCTTTTTCCCGATGGTGAAATGCCTCCAGGCCTGTGCTTGGTGCGTGGGGATGTTCTGATATGAGACGAACTTCTCTTCGGTCCACTTGTAGACGGCGGATGTGGCTTTGCGATTGGCTGTGGCCACAAAGAGCCCCACCTGAGGGATGCGGAACACCTCAATGCCCAGGGTCTCTGAGTTGGTGGACAAGTTCTGATGCTCCTCCACGTAGTCCAGTCTTTCTTTGGCTTGTGATAGAAACGTTGTGACTCGGTTAAGATTTCCGAGAACGGAAATCCAGAGCAATCCTCGCGGGAGCGCGATTCCCAAGCCCCAAGTCACAAGCCACGACTCCTGCGCCTCAGCCTCGGGCATCAGTTTCCACGTTTCGCTCTCACAGGAAAGGCCTGTCAAAGGGAGGCCACTCACTGCTGCCAGGGGCTTTGTGATCTGTGCAGCCCCCAGTGAAGTTTACATGTTGTGGGTTGTGGCCTTGTTAAAAGGCTCACTGCTTCTACGGCAAGTTGTGCTCTCGATAATGTGAAAGAGAGCAGCTCACACACGTGCTGGGCGGAACCCATGCCCATN
|
pathogenic
| 320,116 |
Does the chromosome 21 mutation at position 44711463 within gene TSPEAR (thrombospondin type laminin G domain and EAR repeats) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Ectodermal_dysplasia_14,_hair/tooth_type_with_or_without_hypohidrosis']
|
CCCAGCCCACAACTTCCCCAAAGCCTGGCAGTCACTTGAATAGCCAAATGAGTCCTAGAAAGCGAGAGACGAGAGGGGAATGAGCGCCGAAAATCAAAGCAGGTTCCCCTCCTGACAACTCCAGAGAAGGCGCATGGGCCCCGTGGCAGACCCGAACCCCCAGCCTCGCGACCGCCTGTGACCTGCGGGTCAACCACCCGCCGCGGCTCCACGCCGTGGGCACAGACTCAGGGAGCAGGATGAGAAAGCTGAGACGGCGCAGCCACGGCCCGGTGCCTTCACGCGCACAGCGACACAGCCCCAGCCAGCGGGGCCCACGCTAAGGCGGAATCCCACAGAAGCCTACAGAGCGAGCGCGCGCCTGTGCTTCCCAAAACGGAATGGAACCAAGGTGACTTCTACAGAACGATCTGAAGCCCTGGCTGGCCCTTATGCTAGTCTCTTGGGAGCGTTCCAAATGCAGCTCAATATTACTTACTTGACTTTTATCTTTCCTCCCTGGTTCGTGGTATTTATAACTGGGTCATCTTTTAACTATTTGCAACGTAGCTTCAGGGGAGAGGGGGAGGGCTTTATAAATAACCTGTATTATTATTATGCAGGTTGATTCTGTTCCCTGAGCTAAAGGGAACATGAAAATACATGTCTGTGACTCATGCCCCCCCACCCCCACTCCAGGGTGTGCTGAGGAGTCTCTCAGCTGCCCCGGGGTCCTCGAGCAGGGGAGGGAGAAAGGCTGGCGCTGCGCCCTCCATCGCGTGAAGCCAGGGGATTTTGCTCTGCGACAAGCTGACTTGGCTCTCGTATTGTTTGCAGAATCACCCAGTTCCAAGGCAGTCCCTGCGGGCAGGTGCAGCTGTGCGGGAGCTTCAGTCCTGTCCCCAACACCCAGGCAGTAATGGTTCCAGCACGGAAGGTCTACCTACCTCCCACTGCACAGCCCGAGGGCTGTCCTGGAGGCACAGCCATCCGTCCCTGGGTGGGCAGGCACGTTTATGACCCCCACCCCCACCCCCACCCCCCACGCGAGTCAGCACGTTCCATACTCGGGTGATCGTGCTCATCCCCTGGTCATGTCATCGGGATCTGAGTGCCATCCGAGCAGAGAGCTGTGGCCCGGTGCCGGGGGTGGACTTCATCTATTCCAGGGAACCAAGGATGCATGATTTGCAAACAAAACCAGAAGCGCAAGCCATCTCCTCGCCTCCCCTGATAGCCGTGCTGCGGAGCCTGAGTGCTGGAGTCACTAATTTACTGTCCAGTAACTGAGTTTCTAGCGACCAGGTCTAGTTGTCGTGTTACTTTATTAAATTTTGGTTTGATAAGTAAAATCCCTCAGTAGAAACTCTAGAAAAGTATTAGCGTGTCATGGTCATGAGCAAGCCAAACAGCCTTTCTAAAAGGTGGGAAGGAGACCCCCAGGCTTCGCCAGGACCCCCCAGTGAGCCAGCCCAGGGCTCTCCACTCAGACCAGATTACGCCCCAAAGAACCGAGCCCTTCACTCCAGAGGTGGTTGTGTTTGGGGCTGTGTCTGTGTCTCCAGCTTTTTGCTCATGTGGGGAAGGAGCAGGGCCGGTGTGGCCCTTCGCTTTGCTGAGTGCAGGCTGGGGGCACCTCCACCAGCTAAGGAAATGGCTCGTGCACAGTAGCCTCCCGGGCTGCTGCGACTTCATTCTTCATTCCCAAAGCAGGTGTCAGCCTTTCCCGGGAGGCCCAGCAGGTAAGCACTTGTGGAGGCCCCGGTGGCTGCTGGTTAGCTCTTGAAGCTCGTCCCCACCCTGCGTGCGTTCTAAAGAGCCGCGTTTCTATTGCAACTGCCTGCCCTGCGCTTTCATCTTCCCCACCTGTGCTCCTCCCGCCTCTGCCCATCTCCACAGGGTGCTACCTGCCAGTCCTGCCAAAGCGTCCTCGGGCACCGCGGCTTGAATCAGTGTTAGAAAGTGGCATTTGTGACTCGACACCCCTCCCAGCTCCCCGGCAAGATACCCCCGCCCGAGTTCCCATGCCCCTGCCTTACCTGTGCAGGGCTCCCAACCCTGCGTGCCGTGGCCGGGGGCCGCCAGGGGCAGCACAAAACACAGACTCAGCAGGGCAGACATGAGGGGCTTGGGTGCCAAGCTCCATCCAGGGCTCCGCTCAGCCTGCAGGGAAGTGGCTGCTCCTCAGACGTCTGCGTCAGCCTTTCCAGGGGCGGCCGCGGGGCCCCCGGGGGTCACTGCGACGGCCACATGCCAGCGGCCTAAGGCGGGGACAGAGGTGGCCCTGGCGGTCGCAGTGGGGAAGCTTCTGGTTGCTGCCTGCGGGAGGCAGGTGGCCCCTGGCAGGTTGGGCTGCAGCCGCTGGTTTATCTCTTCATTTCCCTGATGGGCTTGGGCCCTGCGTGCAGGTGACAGGTGATAACAATCTCGGCCCGGCCTGGGATTAGTCGCTGGCAAAGCACACTTTCCAAAAGGAAAGACAGAAATAGATCGTGCTGCGGAGAGCTGAGAACAAGCCAGAGAAACTTAGGAGACCCGTTTCCCTCAGGCGCAGGCTCCCTGGGCTCACCGCCTTTTAGGACCAGGGGCACAGGCGACCATGGCAGGCCGGGAGCGGGTGGGGCGGGTGCACTCTGGCTGGGGGTTTGGGCAGCAGGTCCCCACAGTCTGCTGGAGGGTCCCAGAGGCAGGTCGGGGCTCTGCTAGGGGGTCCTAGAGGCAGGTCGGGGCTCTGCTGTGGTGGGGAGGGGGGGTCCCAGAGGTAGGTCCTGTGCTCTGCGGGGGGTGGGGGGTGGTCCTGGAGGCAGATCCCAGGCTCTGCTGGGGGTCTAGGCGGCAGGTCCCGGGCTCTGCTGGGTCCCCCGGCGGCAGCGGCCGTCCATCCCCAGGAGGGGCTGGGCTCCCTCGGAGGGCTTTTTATCTGGTGCCCAGCCCTCCCGAGGGTGTGTGGGTTTGTCAACTGTTGGGTTTCAGGAATTTCCCTCTGGAGGGAAGTCGGTCCTTAAAGGGAACAGCTAATGAGAAGGAGTGGGTGAGTGTCCCTCAGGGAAGGGGCACGGCCATGGTCACTCATCCAGAGCCGAGGACCCTCGCATCTGACCTCTCGACACTGCAATGGGCATGCCACTCGAGGGGAGCAGCTATTAACTAGAAGTATTCTTTTTACAAAAGTGCCCTGCCCCCCTACCCTCTCCAAACAGCACTGAACGCAGCATTCTTGCAGAAATCTCCAACGCAACTGGGTGCTGCGTTTCTGTGCCTGGTGTGGAGGCCCTGGCAAACTGGTCTGAGGCCGATGGCTTTCCCTGGTTCACAGGCCCACAAAGTGCACACACTCCTGCTAGTTTCAGAAGGAAGCCCCCACTCTGGGACCTCTGACACAATGAGTTTTCCAAGAGCATAGACCCTGTCATTAGGGCTTGTGGAGAGAGACAGAGATGGAGGGAGGGAAGGAGAAAGGGGCCGAAGAGAGGGACAGAGACTGGGGAAAGACCTAGAGGGAGAGGGAGAAAGTGGGGAGGCACAGAGAGCTCCTGGGGCTCTGGAGGCTCTTCCCATAAACAGCCCCTGCGATGGGACAGGCTCATTCTGTCTCCCTCTCGCTTCCTCTTTTACCCGGCCCTGCCCCCAGGGATATTAATTCATAGTTAATATTAATTCACAGATATTAATTCGTAGTCCTATTTATGAGGCTTGAGTTAACTGGCATCATATGAAGGGAGGTTGAAGGTCTCCCATTATATGTGACTCCTCTTCCAGCACCCAAGTGAGCCCTGGGGTGGGGTGTGTCTCCCTCACCCCCCAGGACCCCCTGCCAGCTCCGGTGGGCATGCAGTGCCAGGACAGAGGCTTCCTGAGTGGGCTCCCCACCCCACTGGGGCTCAGCAGCTGGAAACGCTCCACATAGCACCATTCCTGACAACCCTAACCTAATGAGGGACGACGTGGTTCCTCAGAGGAGCGAAAGGCCTGATCGTTGTGTAAATGGAATAAATGGAGTCTTCCTCTTTTGTGTCCCAATCCATGAGAACTTTGTCCTGGGCCAGGCCGCTCCCAGGCCAGCTGCGGGTCACAGTGGCCTCTGAGACCACGCCCCTGAGGGGATGGGGACTCCCCC
|
CCCAGCCCACAACTTCCCCAAAGCCTGGCAGTCACTTGAATAGCCAAATGAGTCCTAGAAAGCGAGAGACGAGAGGGGAATGAGCGCCGAAAATCAAAGCAGGTTCCCCTCCTGACAACTCCAGAGAAGGCGCATGGGCCCCGTGGCAGACCCGAACCCCCAGCCTCGCGACCGCCTGTGACCTGCGGGTCAACCACCCGCCGCGGCTCCACGCCGTGGGCACAGACTCAGGGAGCAGGATGAGAAAGCTGAGACGGCGCAGCCACGGCCCGGTGCCTTCACGCGCACAGCGACACAGCCCCAGCCAGCGGGGCCCACGCTAAGGCGGAATCCCACAGAAGCCTACAGAGCGAGCGCGCGCCTGTGCTTCCCAAAACGGAATGGAACCAAGGTGACTTCTACAGAACGATCTGAAGCCCTGGCTGGCCCTTATGCTAGTCTCTTGGGAGCGTTCCAAATGCAGCTCAATATTACTTACTTGACTTTTATCTTTCCTCCCTGGTTCGTGGTATTTATAACTGGGTCATCTTTTAACTATTTGCAACGTAGCTTCAGGGGAGAGGGGGAGGGCTTTATAAATAACCTGTATTATTATTATGCAGGTTGATTCTGTTCCCTGAGCTAAAGGGAACATGAAAATACATGTCTGTGACTCATGCCCCCCCACCCCCACTCCAGGGTGTGCTGAGGAGTCTCTCAGCTGCCCCGGGGTCCTCGAGCAGGGGAGGGAGAAAGGCTGGCGCTGCGCCCTCCATCGCGTGAAGCCAGGGGATTTTGCTCTGCGACAAGCTGACTTGGCTCTCGTATTGTTTGCAGAATCACCCAGTTCCAAGGCAGTCCCTGCGGGCAGGTGCAGCTGTGCGGGAGCTTCAGTCCTGTCCCCAACACCCAGGCAGTAATGGTTCCAGCACGGAAGGTCTACCTACCTCCCACTGCACAGCCCGAGGGCTGTCCTGGAGGCACAGCCATCCGTCCCTGGGTGGGCAGGCACGTTTATGACCCCCACCCCCACCCCCACCCCCCACGCGAGTCAGCACGTTCCATACTCGGGTGATCGTGCTCATCCCCTGGTCATGTCATCGGGATCTGAGTGCCATCCGAGCAGAGAGCTGTGGCCCGGTGCCGGGGGTGGACTTCATCTATTCCAGGGAACCAAGGATGCATGATTTGCAAACAAAACCAGAAGCGCAAGCCATCTCCTCGCCTCCCCTGATAGCCGTGCTGCGGAGCCTGAGTGCTGGAGTCACTAATTTACTGTCCAGTAACTGAGTTTCTAGCGACCAGGTCTAGTTGTCGTGTTACTTTATTAAATTTTGGTTTGATAAGTAAAATCCCTCAGTAGAAACTCTAGAAAAGTATTAGCGTGTCATGGTCATGAGCAAGCCAAACAGCCTTTCTAAAAGGTGGGAAGGAGACCCCCAGGCTTCGCCAGGACCCCCCAGTGAGCCAGCCCAGGGCTCTCCACTCAGACCAGATTACGCCCCAAAGAACCGAGCCCTTCACTCCAGAGGTGGTTGTGTTTGGGGCTGTGTCTGTGTCTCCAGCTTTTTGCTCATGTGGGGAAGGAGCAGGGCCGGTGTGGCCCTTCGCTTTGCTGAGTGCAGGCTGGGGGCACCTCCACCAGCTAAGGAAATGGCTCGTGCACAGTAGCCTCCCGGGCTGCTGCGACTTCATTCTTCATTCCCAAAGCAGGTGTCAGCCTTTCCCGGGAGGCCCAGCAGGTAAGCACTTGTGGAGGCCCCGGTGGCTGCTGGTTAGCTCTTGAAGCTCGTCCCCACCCTGCGTGCGTTCTAAAGAGCCGCGTTTCTATTGCAACTGCCTGCCCTGCGCTTTCATCTTCCCCACCTGTGCTCCTCCCGCCTCTGCCCATCTCCACAGGGTGCTACCTGCCAGTCCTGCCAAAGCGTCCTCGGGCACCGCGGCTTGAATCAGTGTTAGAAAGTGGCATTTGTGACTCGACACCCCTCCCAGCTCCCCGGCAAGATACCCCCGCCCGAGTTCCCATGCCCCTGCCTTACCTGTGCAGGGCTCCCAACCCTGCGTGCCGTGGCCGGGGGCCGCCGGGGGCCGCCAGGGGCAGCACAAAACACAGACTCAGCAGGGCAGACATGAGGGGCTTGGGTGCCAAGCTCCATCCAGGGCTCCGCTCAGCCTGCAGGGAAGTGGCTGCTCCTCAGACGTCTGCGTCAGCCTTTCCAGGGGCGGCCGCGGGGCCCCCGGGGGTCACTGCGACGGCCACATGCCAGCGGCCTAAGGCGGGGACAGAGGTGGCCCTGGCGGTCGCAGTGGGGAAGCTTCTGGTTGCTGCCTGCGGGAGGCAGGTGGCCCCTGGCAGGTTGGGCTGCAGCCGCTGGTTTATCTCTTCATTTCCCTGATGGGCTTGGGCCCTGCGTGCAGGTGACAGGTGATAACAATCTCGGCCCGGCCTGGGATTAGTCGCTGGCAAAGCACACTTTCCAAAAGGAAAGACAGAAATAGATCGTGCTGCGGAGAGCTGAGAACAAGCCAGAGAAACTTAGGAGACCCGTTTCCCTCAGGCGCAGGCTCCCTGGGCTCACCGCCTTTTAGGACCAGGGGCACAGGCGACCATGGCAGGCCGGGAGCGGGTGGGGCGGGTGCACTCTGGCTGGGGGTTTGGGCAGCAGGTCCCCACAGTCTGCTGGAGGGTCCCAGAGGCAGGTCGGGGCTCTGCTAGGGGGTCCTAGAGGCAGGTCGGGGCTCTGCTGTGGTGGGGAGGGGGGGTCCCAGAGGTAGGTCCTGTGCTCTGCGGGGGGTGGGGGGTGGTCCTGGAGGCAGATCCCAGGCTCTGCTGGGGGTCTAGGCGGCAGGTCCCGGGCTCTGCTGGGTCCCCCGGCGGCAGCGGCCGTCCATCCCCAGGAGGGGCTGGGCTCCCTCGGAGGGCTTTTTATCTGGTGCCCAGCCCTCCCGAGGGTGTGTGGGTTTGTCAACTGTTGGGTTTCAGGAATTTCCCTCTGGAGGGAAGTCGGTCCTTAAAGGGAACAGCTAATGAGAAGGAGTGGGTGAGTGTCCCTCAGGGAAGGGGCACGGCCATGGTCACTCATCCAGAGCCGAGGACCCTCGCATCTGACCTCTCGACACTGCAATGGGCATGCCACTCGAGGGGAGCAGCTATTAACTAGAAGTATTCTTTTTACAAAAGTGCCCTGCCCCCCTACCCTCTCCAAACAGCACTGAACGCAGCATTCTTGCAGAAATCTCCAACGCAACTGGGTGCTGCGTTTCTGTGCCTGGTGTGGAGGCCCTGGCAAACTGGTCTGAGGCCGATGGCTTTCCCTGGTTCACAGGCCCACAAAGTGCACACACTCCTGCTAGTTTCAGAAGGAAGCCCCCACTCTGGGACCTCTGACACAATGAGTTTTCCAAGAGCATAGACCCTGTCATTAGGGCTTGTGGAGAGAGACAGAGATGGAGGGAGGGAAGGAGAAAGGGGCCGAAGAGAGGGACAGAGACTGGGGAAAGACCTAGAGGGAGAGGGAGAAAGTGGGGAGGCACAGAGAGCTCCTGGGGCTCTGGAGGCTCTTCCCATAAACAGCCCCTGCGATGGGACAGGCTCATTCTGTCTCCCTCTCGCTTCCTCTTTTACCCGGCCCTGCCCCCAGGGATATTAATTCATAGTTAATATTAATTCACAGATATTAATTCGTAGTCCTATTTATGAGGCTTGAGTTAACTGGCATCATATGAAGGGAGGTTGAAGGTCTCCCATTATATGTGACTCCTCTTCCAGCACCCAAGTGAGCCCTGGGGTGGGGTGTGTCTCCCTCACCCCCCAGGACCCCCTGCCAGCTCCGGTGGGCATGCAGTGCCAGGACAGAGGCTTCCTGAGTGGGCTCCCCACCCCACTGGGGCTCAGCAGCTGGAAACGCTCCACATAGCACCATTCCTGACAACCCTAACCTAATGAGGGACGACGTGGTTCCTCAGAGGAGCGAAAGGCCTGATCGTTGTGTAAATGGAATAAATGGAGTCTTCCTCTTTTGTGTCCCAATCCATGAGAACTTTGTCCTGGGCCAGGCCGCTCCCAGGCCAGCTGCGGGTCACAGTGGCCTCTGAGACCACGCCCCTGAGGGGATGG
|
pathogenic
| 320,176 |
Chromosome 21, position 44711476, gene TSPEAR (thrombospondin type laminin G domain and EAR repeats): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['TSPEAR-related_disorder']
|
TTCCCCAAAGCCTGGCAGTCACTTGAATAGCCAAATGAGTCCTAGAAAGCGAGAGACGAGAGGGGAATGAGCGCCGAAAATCAAAGCAGGTTCCCCTCCTGACAACTCCAGAGAAGGCGCATGGGCCCCGTGGCAGACCCGAACCCCCAGCCTCGCGACCGCCTGTGACCTGCGGGTCAACCACCCGCCGCGGCTCCACGCCGTGGGCACAGACTCAGGGAGCAGGATGAGAAAGCTGAGACGGCGCAGCCACGGCCCGGTGCCTTCACGCGCACAGCGACACAGCCCCAGCCAGCGGGGCCCACGCTAAGGCGGAATCCCACAGAAGCCTACAGAGCGAGCGCGCGCCTGTGCTTCCCAAAACGGAATGGAACCAAGGTGACTTCTACAGAACGATCTGAAGCCCTGGCTGGCCCTTATGCTAGTCTCTTGGGAGCGTTCCAAATGCAGCTCAATATTACTTACTTGACTTTTATCTTTCCTCCCTGGTTCGTGGTATTTATAACTGGGTCATCTTTTAACTATTTGCAACGTAGCTTCAGGGGAGAGGGGGAGGGCTTTATAAATAACCTGTATTATTATTATGCAGGTTGATTCTGTTCCCTGAGCTAAAGGGAACATGAAAATACATGTCTGTGACTCATGCCCCCCCACCCCCACTCCAGGGTGTGCTGAGGAGTCTCTCAGCTGCCCCGGGGTCCTCGAGCAGGGGAGGGAGAAAGGCTGGCGCTGCGCCCTCCATCGCGTGAAGCCAGGGGATTTTGCTCTGCGACAAGCTGACTTGGCTCTCGTATTGTTTGCAGAATCACCCAGTTCCAAGGCAGTCCCTGCGGGCAGGTGCAGCTGTGCGGGAGCTTCAGTCCTGTCCCCAACACCCAGGCAGTAATGGTTCCAGCACGGAAGGTCTACCTACCTCCCACTGCACAGCCCGAGGGCTGTCCTGGAGGCACAGCCATCCGTCCCTGGGTGGGCAGGCACGTTTATGACCCCCACCCCCACCCCCACCCCCCACGCGAGTCAGCACGTTCCATACTCGGGTGATCGTGCTCATCCCCTGGTCATGTCATCGGGATCTGAGTGCCATCCGAGCAGAGAGCTGTGGCCCGGTGCCGGGGGTGGACTTCATCTATTCCAGGGAACCAAGGATGCATGATTTGCAAACAAAACCAGAAGCGCAAGCCATCTCCTCGCCTCCCCTGATAGCCGTGCTGCGGAGCCTGAGTGCTGGAGTCACTAATTTACTGTCCAGTAACTGAGTTTCTAGCGACCAGGTCTAGTTGTCGTGTTACTTTATTAAATTTTGGTTTGATAAGTAAAATCCCTCAGTAGAAACTCTAGAAAAGTATTAGCGTGTCATGGTCATGAGCAAGCCAAACAGCCTTTCTAAAAGGTGGGAAGGAGACCCCCAGGCTTCGCCAGGACCCCCCAGTGAGCCAGCCCAGGGCTCTCCACTCAGACCAGATTACGCCCCAAAGAACCGAGCCCTTCACTCCAGAGGTGGTTGTGTTTGGGGCTGTGTCTGTGTCTCCAGCTTTTTGCTCATGTGGGGAAGGAGCAGGGCCGGTGTGGCCCTTCGCTTTGCTGAGTGCAGGCTGGGGGCACCTCCACCAGCTAAGGAAATGGCTCGTGCACAGTAGCCTCCCGGGCTGCTGCGACTTCATTCTTCATTCCCAAAGCAGGTGTCAGCCTTTCCCGGGAGGCCCAGCAGGTAAGCACTTGTGGAGGCCCCGGTGGCTGCTGGTTAGCTCTTGAAGCTCGTCCCCACCCTGCGTGCGTTCTAAAGAGCCGCGTTTCTATTGCAACTGCCTGCCCTGCGCTTTCATCTTCCCCACCTGTGCTCCTCCCGCCTCTGCCCATCTCCACAGGGTGCTACCTGCCAGTCCTGCCAAAGCGTCCTCGGGCACCGCGGCTTGAATCAGTGTTAGAAAGTGGCATTTGTGACTCGACACCCCTCCCAGCTCCCCGGCAAGATACCCCCGCCCGAGTTCCCATGCCCCTGCCTTACCTGTGCAGGGCTCCCAACCCTGCGTGCCGTGGCCGGGGGCCGCCAGGGGCAGCACAAAACACAGACTCAGCAGGGCAGACATGAGGGGCTTGGGTGCCAAGCTCCATCCAGGGCTCCGCTCAGCCTGCAGGGAAGTGGCTGCTCCTCAGACGTCTGCGTCAGCCTTTCCAGGGGCGGCCGCGGGGCCCCCGGGGGTCACTGCGACGGCCACATGCCAGCGGCCTAAGGCGGGGACAGAGGTGGCCCTGGCGGTCGCAGTGGGGAAGCTTCTGGTTGCTGCCTGCGGGAGGCAGGTGGCCCCTGGCAGGTTGGGCTGCAGCCGCTGGTTTATCTCTTCATTTCCCTGATGGGCTTGGGCCCTGCGTGCAGGTGACAGGTGATAACAATCTCGGCCCGGCCTGGGATTAGTCGCTGGCAAAGCACACTTTCCAAAAGGAAAGACAGAAATAGATCGTGCTGCGGAGAGCTGAGAACAAGCCAGAGAAACTTAGGAGACCCGTTTCCCTCAGGCGCAGGCTCCCTGGGCTCACCGCCTTTTAGGACCAGGGGCACAGGCGACCATGGCAGGCCGGGAGCGGGTGGGGCGGGTGCACTCTGGCTGGGGGTTTGGGCAGCAGGTCCCCACAGTCTGCTGGAGGGTCCCAGAGGCAGGTCGGGGCTCTGCTAGGGGGTCCTAGAGGCAGGTCGGGGCTCTGCTGTGGTGGGGAGGGGGGGTCCCAGAGGTAGGTCCTGTGCTCTGCGGGGGGTGGGGGGTGGTCCTGGAGGCAGATCCCAGGCTCTGCTGGGGGTCTAGGCGGCAGGTCCCGGGCTCTGCTGGGTCCCCCGGCGGCAGCGGCCGTCCATCCCCAGGAGGGGCTGGGCTCCCTCGGAGGGCTTTTTATCTGGTGCCCAGCCCTCCCGAGGGTGTGTGGGTTTGTCAACTGTTGGGTTTCAGGAATTTCCCTCTGGAGGGAAGTCGGTCCTTAAAGGGAACAGCTAATGAGAAGGAGTGGGTGAGTGTCCCTCAGGGAAGGGGCACGGCCATGGTCACTCATCCAGAGCCGAGGACCCTCGCATCTGACCTCTCGACACTGCAATGGGCATGCCACTCGAGGGGAGCAGCTATTAACTAGAAGTATTCTTTTTACAAAAGTGCCCTGCCCCCCTACCCTCTCCAAACAGCACTGAACGCAGCATTCTTGCAGAAATCTCCAACGCAACTGGGTGCTGCGTTTCTGTGCCTGGTGTGGAGGCCCTGGCAAACTGGTCTGAGGCCGATGGCTTTCCCTGGTTCACAGGCCCACAAAGTGCACACACTCCTGCTAGTTTCAGAAGGAAGCCCCCACTCTGGGACCTCTGACACAATGAGTTTTCCAAGAGCATAGACCCTGTCATTAGGGCTTGTGGAGAGAGACAGAGATGGAGGGAGGGAAGGAGAAAGGGGCCGAAGAGAGGGACAGAGACTGGGGAAAGACCTAGAGGGAGAGGGAGAAAGTGGGGAGGCACAGAGAGCTCCTGGGGCTCTGGAGGCTCTTCCCATAAACAGCCCCTGCGATGGGACAGGCTCATTCTGTCTCCCTCTCGCTTCCTCTTTTACCCGGCCCTGCCCCCAGGGATATTAATTCATAGTTAATATTAATTCACAGATATTAATTCGTAGTCCTATTTATGAGGCTTGAGTTAACTGGCATCATATGAAGGGAGGTTGAAGGTCTCCCATTATATGTGACTCCTCTTCCAGCACCCAAGTGAGCCCTGGGGTGGGGTGTGTCTCCCTCACCCCCCAGGACCCCCTGCCAGCTCCGGTGGGCATGCAGTGCCAGGACAGAGGCTTCCTGAGTGGGCTCCCCACCCCACTGGGGCTCAGCAGCTGGAAACGCTCCACATAGCACCATTCCTGACAACCCTAACCTAATGAGGGACGACGTGGTTCCTCAGAGGAGCGAAAGGCCTGATCGTTGTGTAAATGGAATAAATGGAGTCTTCCTCTTTTGTGTCCCAATCCATGAGAACTTTGTCCTGGGCCAGGCCGCTCCCAGGCCAGCTGCGGGTCACAGTGGCCTCTGAGACCACGCCCCTGAGGGGATGGGGACTCCCCCCAAATGATGGGCA
|
TTCCCCAAAGCCTGGCAGTCACTTGAATAGCCAAATGAGTCCTAGAAAGCGAGAGACGAGAGGGGAATGAGCGCCGAAAATCAAAGCAGGTTCCCCTCCTGACAACTCCAGAGAAGGCGCATGGGCCCCGTGGCAGACCCGAACCCCCAGCCTCGCGACCGCCTGTGACCTGCGGGTCAACCACCCGCCGCGGCTCCACGCCGTGGGCACAGACTCAGGGAGCAGGATGAGAAAGCTGAGACGGCGCAGCCACGGCCCGGTGCCTTCACGCGCACAGCGACACAGCCCCAGCCAGCGGGGCCCACGCTAAGGCGGAATCCCACAGAAGCCTACAGAGCGAGCGCGCGCCTGTGCTTCCCAAAACGGAATGGAACCAAGGTGACTTCTACAGAACGATCTGAAGCCCTGGCTGGCCCTTATGCTAGTCTCTTGGGAGCGTTCCAAATGCAGCTCAATATTACTTACTTGACTTTTATCTTTCCTCCCTGGTTCGTGGTATTTATAACTGGGTCATCTTTTAACTATTTGCAACGTAGCTTCAGGGGAGAGGGGGAGGGCTTTATAAATAACCTGTATTATTATTATGCAGGTTGATTCTGTTCCCTGAGCTAAAGGGAACATGAAAATACATGTCTGTGACTCATGCCCCCCCACCCCCACTCCAGGGTGTGCTGAGGAGTCTCTCAGCTGCCCCGGGGTCCTCGAGCAGGGGAGGGAGAAAGGCTGGCGCTGCGCCCTCCATCGCGTGAAGCCAGGGGATTTTGCTCTGCGACAAGCTGACTTGGCTCTCGTATTGTTTGCAGAATCACCCAGTTCCAAGGCAGTCCCTGCGGGCAGGTGCAGCTGTGCGGGAGCTTCAGTCCTGTCCCCAACACCCAGGCAGTAATGGTTCCAGCACGGAAGGTCTACCTACCTCCCACTGCACAGCCCGAGGGCTGTCCTGGAGGCACAGCCATCCGTCCCTGGGTGGGCAGGCACGTTTATGACCCCCACCCCCACCCCCACCCCCCACGCGAGTCAGCACGTTCCATACTCGGGTGATCGTGCTCATCCCCTGGTCATGTCATCGGGATCTGAGTGCCATCCGAGCAGAGAGCTGTGGCCCGGTGCCGGGGGTGGACTTCATCTATTCCAGGGAACCAAGGATGCATGATTTGCAAACAAAACCAGAAGCGCAAGCCATCTCCTCGCCTCCCCTGATAGCCGTGCTGCGGAGCCTGAGTGCTGGAGTCACTAATTTACTGTCCAGTAACTGAGTTTCTAGCGACCAGGTCTAGTTGTCGTGTTACTTTATTAAATTTTGGTTTGATAAGTAAAATCCCTCAGTAGAAACTCTAGAAAAGTATTAGCGTGTCATGGTCATGAGCAAGCCAAACAGCCTTTCTAAAAGGTGGGAAGGAGACCCCCAGGCTTCGCCAGGACCCCCCAGTGAGCCAGCCCAGGGCTCTCCACTCAGACCAGATTACGCCCCAAAGAACCGAGCCCTTCACTCCAGAGGTGGTTGTGTTTGGGGCTGTGTCTGTGTCTCCAGCTTTTTGCTCATGTGGGGAAGGAGCAGGGCCGGTGTGGCCCTTCGCTTTGCTGAGTGCAGGCTGGGGGCACCTCCACCAGCTAAGGAAATGGCTCGTGCACAGTAGCCTCCCGGGCTGCTGCGACTTCATTCTTCATTCCCAAAGCAGGTGTCAGCCTTTCCCGGGAGGCCCAGCAGGTAAGCACTTGTGGAGGCCCCGGTGGCTGCTGGTTAGCTCTTGAAGCTCGTCCCCACCCTGCGTGCGTTCTAAAGAGCCGCGTTTCTATTGCAACTGCCTGCCCTGCGCTTTCATCTTCCCCACCTGTGCTCCTCCCGCCTCTGCCCATCTCCACAGGGTGCTACCTGCCAGTCCTGCCAAAGCGTCCTCGGGCACCGCGGCTTGAATCAGTGTTAGAAAGTGGCATTTGTGACTCGACACCCCTCCCAGCTCCCCGGCAAGATACCCCCGCCCGAGTTCCCATGCCCCTGCCTTACCTGTGCAGGGCTCCCAACCCTGCGTGCCGTGGCCGGGGGCCGCCGGGGCAGCACAAAACACAGACTCAGCAGGGCAGACATGAGGGGCTTGGGTGCCAAGCTCCATCCAGGGCTCCGCTCAGCCTGCAGGGAAGTGGCTGCTCCTCAGACGTCTGCGTCAGCCTTTCCAGGGGCGGCCGCGGGGCCCCCGGGGGTCACTGCGACGGCCACATGCCAGCGGCCTAAGGCGGGGACAGAGGTGGCCCTGGCGGTCGCAGTGGGGAAGCTTCTGGTTGCTGCCTGCGGGAGGCAGGTGGCCCCTGGCAGGTTGGGCTGCAGCCGCTGGTTTATCTCTTCATTTCCCTGATGGGCTTGGGCCCTGCGTGCAGGTGACAGGTGATAACAATCTCGGCCCGGCCTGGGATTAGTCGCTGGCAAAGCACACTTTCCAAAAGGAAAGACAGAAATAGATCGTGCTGCGGAGAGCTGAGAACAAGCCAGAGAAACTTAGGAGACCCGTTTCCCTCAGGCGCAGGCTCCCTGGGCTCACCGCCTTTTAGGACCAGGGGCACAGGCGACCATGGCAGGCCGGGAGCGGGTGGGGCGGGTGCACTCTGGCTGGGGGTTTGGGCAGCAGGTCCCCACAGTCTGCTGGAGGGTCCCAGAGGCAGGTCGGGGCTCTGCTAGGGGGTCCTAGAGGCAGGTCGGGGCTCTGCTGTGGTGGGGAGGGGGGGTCCCAGAGGTAGGTCCTGTGCTCTGCGGGGGGTGGGGGGTGGTCCTGGAGGCAGATCCCAGGCTCTGCTGGGGGTCTAGGCGGCAGGTCCCGGGCTCTGCTGGGTCCCCCGGCGGCAGCGGCCGTCCATCCCCAGGAGGGGCTGGGCTCCCTCGGAGGGCTTTTTATCTGGTGCCCAGCCCTCCCGAGGGTGTGTGGGTTTGTCAACTGTTGGGTTTCAGGAATTTCCCTCTGGAGGGAAGTCGGTCCTTAAAGGGAACAGCTAATGAGAAGGAGTGGGTGAGTGTCCCTCAGGGAAGGGGCACGGCCATGGTCACTCATCCAGAGCCGAGGACCCTCGCATCTGACCTCTCGACACTGCAATGGGCATGCCACTCGAGGGGAGCAGCTATTAACTAGAAGTATTCTTTTTACAAAAGTGCCCTGCCCCCCTACCCTCTCCAAACAGCACTGAACGCAGCATTCTTGCAGAAATCTCCAACGCAACTGGGTGCTGCGTTTCTGTGCCTGGTGTGGAGGCCCTGGCAAACTGGTCTGAGGCCGATGGCTTTCCCTGGTTCACAGGCCCACAAAGTGCACACACTCCTGCTAGTTTCAGAAGGAAGCCCCCACTCTGGGACCTCTGACACAATGAGTTTTCCAAGAGCATAGACCCTGTCATTAGGGCTTGTGGAGAGAGACAGAGATGGAGGGAGGGAAGGAGAAAGGGGCCGAAGAGAGGGACAGAGACTGGGGAAAGACCTAGAGGGAGAGGGAGAAAGTGGGGAGGCACAGAGAGCTCCTGGGGCTCTGGAGGCTCTTCCCATAAACAGCCCCTGCGATGGGACAGGCTCATTCTGTCTCCCTCTCGCTTCCTCTTTTACCCGGCCCTGCCCCCAGGGATATTAATTCATAGTTAATATTAATTCACAGATATTAATTCGTAGTCCTATTTATGAGGCTTGAGTTAACTGGCATCATATGAAGGGAGGTTGAAGGTCTCCCATTATATGTGACTCCTCTTCCAGCACCCAAGTGAGCCCTGGGGTGGGGTGTGTCTCCCTCACCCCCCAGGACCCCCTGCCAGCTCCGGTGGGCATGCAGTGCCAGGACAGAGGCTTCCTGAGTGGGCTCCCCACCCCACTGGGGCTCAGCAGCTGGAAACGCTCCACATAGCACCATTCCTGACAACCCTAACCTAATGAGGGACGACGTGGTTCCTCAGAGGAGCGAAAGGCCTGATCGTTGTGTAAATGGAATAAATGGAGTCTTCCTCTTTTGTGTCCCAATCCATGAGAACTTTGTCCTGGGCCAGGCCGCTCCCAGGCCAGCTGCGGGTCACAGTGGCCTCTGAGACCACGCCCCTGAGGGGATGGGGACTCCCCCCAAATGATGGGCAN
|
pathogenic
| 320,179 |
Variant on chromosome 21, at position 44888702, affecting ITGB2 (integrin subunit beta 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Inborn_genetic_diseases', 'Leukocyte_adhesion_deficiency_1']
|
CCACGGCCTCCCGCAGCAGGAGGTCGCATAGTGTGGGACGCACGTGCCCCTCTGCGTGGGACCCCCAAGGACGGCCACTTACATTGTTCCACTGGGACTTGAGCTTCTCCTTCTCAAAGCGCCTGTACTCCCGGAGGTCGCTCAGGTGGATCAGAGCCTTCCAGATGACCAGCAGGAGAATGCCGATCAGCACGATGCCTGCCACGGTGCCCCCGACGATGGCGGCGATGTTGGGGCCTGCCACACACTCTAGGGAAGAAGCAGCACACCTGAGCGTCAGTCCAGCCCCATCTCACTGAGCCGTGTGCCCACAGGTCCGAGGTCACCCCACAACACAGCACTTAGAGAGACGGAGGTTCCCAGGGCCCCGGCTCACCATCCATCACCATGGCCAGGGGTCAGTGAGAACCTGGCCCAGCCCCTGCTGGATTCCAGGCCAGGCCCTGTGGTTCCAAATGAAACCTAAGGGCCATTGCCACCACCCCTGCTGACAGAGAAGAAGGCAGGGCCAGGGTACCGGGCAGCCAGGACAGAGTGCTAATACTGGGGGGTAGGACACAGTGCGAGGGACCCCGCTCTCCTACAGCAGAGTTCAGAACCAGGCTCAGGGTCCCTGCTGGAGTTCACTCCCCATACTGTGAAAGTGATTTGTGGTCGTCAAGGACAAGACCAGAGACCAGAGCTCAGCAGGTGAGGCCGGTGCCAGGATGAGCAACGCAAGGTCCTGGTTCCCACGGCAGCTGTGCCCACCTCCTGAGCATGGGGACTGTGGGCCATAGTGGGCCAGGCCCACAGCTGCTGACCCTGGGACAGACACTAGCGTTCAGTGCAGTCCCTGGCCTGGTCTGGCATCCTCACTCCCTGTACCCCTCCTGCCATCCTGACCTGCACCCTCACTCCCTGTGGTTGCTCCTGCCATCCTGATCTGCACCCTCACTCCCTGTGCCCCCTCCTGCCATCCTGACCTGCACTCTCACTCCCCGTGCCCCCTCCTGCCATCCTGCCTTTCCTGGGGGACCTGCCTTCCTTCACCTGTCCTCAAAGGTGAAGTGACTTGGCCAGGATTGCACAAACCAGACGTGACCCAAGTCTGTCCCTCAAAGTGGCCCGCAGGGGTTCCTGCCCTGGCAGGTGGGGGTCTGCAGCCCCAGGCCCACATGTGGGTTGTGAGCTCCAGGCATGTCACCTACAGGCTCAGAGACCCCCGCCGCCTGCCTCGGGTCCCTTCCTGGTGAGGGAGGAGCTCCCAGGTCTCAGTTCTGCAAGAGTCCTGGCCGGCTGCTGGCCATGCCTGATGGAGTCCGCCAGCGGCCCCCCAGCCCCAGCCCCTCTGCCTCTCAGGAGCCTGTGGAACATGAGACCTGAAGAAGCAGGGCCAGTGTCACCAAGGTCACCGTGGGGCTGGGCCTGGTTCCAACTGGAGCTGAATGAGACAGGGTCAGTGCCACCAAGGTCACTGTGGGGCTGGGACTGGTTCCGACTGGAGCCGAATGAGACAGGGTCAGTGCCACCAAGGTCACTGTGGGGCTGGGACTGGTTCCGACTGGACTGGAGCCGAACGAGTGATGGGGACGGTGGTGCCTGGTGGCCCTGGGCCCCTCCAGGGCTGAGAGCCGAGCACCAGGATCTCCCAATCCCCTCAAAGGAGCCTCACGCAGCAACCTGACCGCGGGCCACCCCTGGGGACCTGCAACTGCAAGCCTTGCCCCATGAGGCATCCAGCGGGAGATGGCCCGGGCCGTGTGGCATGCTGGTGGGCCTGCCCGGTGTGGAGCAGTGGTGCCCCCAGGGAGCAGGCCGTCTGCTGCCCAGCTTGATGTGGGGTCAGGTGAGGAGGGGAGGGAAAGGGGAGGCTGCTGGGGGTGAGGGGACCGGCCTCTGGCCTCCTTGCAATGCCAAGGGCATCCCGCATGGCTCATCCACCCTGCTGGGCCCACAACACTGGAGGTGAGATCCTCCTTCCGCACCACCCTCGCCTCTGCGGAGACCCCGCAGCCGGAGCTCTGGAGCCGGTCCCCGCTGCACCCCAGCGGCCTCACCTCGGCTCTCATCCACATAGATGAGGTAGCGGTCCATCCCGTCCTGCTGCTCCAGCGTGTAGGCCACCCAGCAGCCCTCTGAGTCCCTCTCCTTGCAGGTCCTGCCCTTCACGGGGTTGTTCGACAGCTGCAGGCCCGGACACGCCGCGCTGCAGTTCTTCCCAAAGGGGCCCTTTTCGAACTTCAGGCACTCGGCGCAGGAGCTGCGGGGAGCCAGGTGTGAGCATCGGTGCCAGGGTGTGCGGGGGCTCCGGCAACGGGGGCTCGGGCTTGGGTGTGTGTCCACCAGGGGGGGCAGGTGGGGTTGGGGCGCCCTCAGGCCAAGGAGGGGGCCCAAGTGGGGCAGATGCGGGTGCAGCGGGTGAACTGGAAGCCTGATCCCAGGGCCCGCGGCAGGTGCGCACAGGAGGGAGGAGGGACACAGGGGCACGGCGGCCGCGGAGGGCCCCTCAGTCCAGACGCACCCGCAGAGAACCCCGCGGTGCAGAGGTGCTCACTGGGGTCCCCGAGTGAGCCCGGCTGCTGGGTAGGTGGCCGGGGAGTGGGGATCCCTGCCCGCCCTGCCTGCTCCGCCTGCACTCACATGTACTTGCCACAGGGTGAGGGGCAGCCGGGGCACTCCTGGCACAGAGGCAGCTGGTAGCCTGAATGGCACTCGCATACGTTGCAGCGGCACCGGCCACGACCACTACACTCAACACGCCGCGGGTTCAGGCAGCCCTCAGTGGTCCTCTCGCACTGGCACGCTGAGCCCTCAAAGCCCGGGTGGCAGCGGCACTTCCCGCAGAAGCAGAGCCCCCTCCCTGGAAGACGGGGCAGCACGGCTAAGCTCCTGCTTGGCCTGGGAACCGAGACCCGCCCGAAACCCCACTGCGGTTGCTCCCTCCGGCCCGCCTGCCTCCTCCAGCCTGGGGGATGTTCCTGAGCAAAAGGCATGGGGCCACTAGCCAGGCCCTTCTGCCCCCGCCAGCCACGTGGCCGCCTCCTGGCCAGTCTGGACCTCCCCTGCCCTGCTGTGAATGGGACCTCAATAGGGCTATGACCGTTCCTCCTGTGGGCCCTCCCCACAAGGACGCCTTGTCCTCATGGACACAGAAACTGAGGCAGGGCGGGGTGCAGGGCCATCCAAGTTCCTGCTGACGCCCGGTGGCTGGGCGAGACTTGCACTGTCTGTCCTCAGGATCCCCCCTTTCTGTTCCACTCGTTGAATGGTCCAGAACGCACCCCCCAACACCAAGTCTGTGCCGCAGGACGGCCGTTGTCCAGCAGGGACCCACGGGCTCACCCGGGCCGCCGCAGACCTGGCCGTTGTAGCGCTCACAGTTGATGGTGTCACACTCGCAGTACTGCCCGTATATCAGCTTGCCGGGGACGTCGCTGGTGTGGCACAGGCACTGCCCGCAGACACAGTCCCCCAGCCCTGAGCAGATGATGGAGTTGTTGTCCTTCCGGCAGCTTCCTTCCAGCTCCTGGCTGCTCCGGCCCTGTGTCTGGCACTCACAGTTTTTCCCAATGTAGCCAGTGTCACACCTGGGGACAGGAGGGGCCCCAAGGTCAGGCTCCCCCCAGTGATGTGGGACAAGGGACAGCCGCCCTGTCCTCCAGGCCCCTTGCCCTTGGTGGAGAACACCCCTATGGCACATTTTGCTTTCCTCGAGGCCTACTGAGCACTTGCCACGGACTAAATGTGCTCAAAACGTGCAGGGGCCCCGCGTTCCCTCCCCAGGATGTCCCGAGGGGAAAGCAGACACCTGGCCTTGGCCTGCGCATGCAGTGGCTCGGCAGGCTCACTGTGGAGCTGTGTTGCAGCCATGCACATGGCCTGTGCTGCGATACCGGTGCTCTGTGAGTGGCTGGTGTCTGCTCCTGCGTGCCCCACATGGTGGCCAGTGGGGACTCGGCACTGCCTCCTGCCACAGCCCCGCCCTCCCTCCTGCGTTCGTGCACTGACAGGCCAGGTTGTGGGAGAATGCAGGGACAAGGGGTTTTTACAGATGTGGAAGCTGGCATCAAGCCGCTGGCAGGCAGGAGCCACACACACCCTGAGGCATCCTCAG
|
CCACGGCCTCCCGCAGCAGGAGGTCGCATAGTGTGGGACGCACGTGCCCCTCTGCGTGGGACCCCCAAGGACGGCCACTTACATTGTTCCACTGGGACTTGAGCTTCTCCTTCTCAAAGCGCCTGTACTCCCGGAGGTCGCTCAGGTGGATCAGAGCCTTCCAGATGACCAGCAGGAGAATGCCGATCAGCACGATGCCTGCCACGGTGCCCCCGACGATGGCGGCGATGTTGGGGCCTGCCACACACTCTAGGGAAGAAGCAGCACACCTGAGCGTCAGTCCAGCCCCATCTCACTGAGCCGTGTGCCCACAGGTCCGAGGTCACCCCACAACACAGCACTTAGAGAGACGGAGGTTCCCAGGGCCCCGGCTCACCATCCATCACCATGGCCAGGGGTCAGTGAGAACCTGGCCCAGCCCCTGCTGGATTCCAGGCCAGGCCCTGTGGTTCCAAATGAAACCTAAGGGCCATTGCCACCACCCCTGCTGACAGAGAAGAAGGCAGGGCCAGGGTACCGGGCAGCCAGGACAGAGTGCTAATACTGGGGGGTAGGACACAGTGCGAGGGACCCCGCTCTCCTACAGCAGAGTTCAGAACCAGGCTCAGGGTCCCTGCTGGAGTTCACTCCCCATACTGTGAAAGTGATTTGTGGTCGTCAAGGACAAGACCAGAGACCAGAGCTCAGCAGGTGAGGCCGGTGCCAGGATGAGCAACGCAAGGTCCTGGTTCCCACGGCAGCTGTGCCCACCTCCTGAGCATGGGGACTGTGGGCCATAGTGGGCCAGGCCCACAGCTGCTGACCCTGGGACAGACACTAGCGTTCAGTGCAGTCCCTGGCCTGGTCTGGCATCCTCACTCCCTGTACCCCTCCTGCCATCCTGACCTGCACCCTCACTCCCTGTGGTTGCTCCTGCCATCCTGATCTGCACCCTCACTCCCTGTGCCCCCTCCTGCCATCCTGACCTGCACTCTCACTCCCCGTGCCCCCTCCTGCCATCCTGCCTTTCCTGGGGGACCTGCCTTCCTTCACCTGTCCTCAAAGGTGAAGTGACTTGGCCAGGATTGCACAAACCAGACGTGACCCAAGTCTGTCCCTCAAAGTGGCCCGCAGGGGTTCCTGCCCTGGCAGGTGGGGGTCTGCAGCCCCAGGCCCACATGTGGGTTGTGAGCTCCAGGCATGTCACCTACAGGCTCAGAGACCCCCGCCGCCTGCCTCGGGTCCCTTCCTGGTGAGGGAGGAGCTCCCAGGTCTCAGTTCTGCAAGAGTCCTGGCCGGCTGCTGGCCATGCCTGATGGAGTCCGCCAGCGGCCCCCCAGCCCCAGCCCCTCTGCCTCTCAGGAGCCTGTGGAACATGAGACCTGAAGAAGCAGGGCCAGTGTCACCAAGGTCACCGTGGGGCTGGGCCTGGTTCCAACTGGAGCTGAATGAGACAGGGTCAGTGCCACCAAGGTCACTGTGGGGCTGGGACTGGTTCCGACTGGAGCCGAATGAGACAGGGTCAGTGCCACCAAGGTCACTGTGGGGCTGGGACTGGTTCCGACTGGACTGGAGCCGAACGAGTGATGGGGACGGTGGTGCCTGGTGGCCCTGGGCCCCTCCAGGGCTGAGAGCCGAGCACCAGGATCTCCCAATCCCCTCAAAGGAGCCTCACGCAGCAACCTGACCGCGGGCCACCCCTGGGGACCTGCAACTGCAAGCCTTGCCCCATGAGGCATCCAGCGGGAGATGGCCCGGGCCGTGTGGCATGCTGGTGGGCCTGCCCGGTGTGGAGCAGTGGTGCCCCCAGGGAGCAGGCCGTCTGCTGCCCAGCTTGATGTGGGGTCAGGTGAGGAGGGGAGGGAAAGGGGAGGCTGCTGGGGGTGAGGGGACCGGCCTCTGGCCTCCTTGCAATGCCAAGGGCATCCCGCATGGCTCATCCACCCTGCTGGGCCCACAACACTGGAGGTGAGATCCTCCTTCCGCACCACCCTCGCCTCTGCGGAGACCCCGCAGCCGGAGCTCTGGAGCCGGTCCCCGCTGCACCCCAGCGGCCTCACCTCGGCTCTCTCCACATAGATGAGGTAGCGGTCCATCCCGTCCTGCTGCTCCAGCGTGTAGGCCACCCAGCAGCCCTCTGAGTCCCTCTCCTTGCAGGTCCTGCCCTTCACGGGGTTGTTCGACAGCTGCAGGCCCGGACACGCCGCGCTGCAGTTCTTCCCAAAGGGGCCCTTTTCGAACTTCAGGCACTCGGCGCAGGAGCTGCGGGGAGCCAGGTGTGAGCATCGGTGCCAGGGTGTGCGGGGGCTCCGGCAACGGGGGCTCGGGCTTGGGTGTGTGTCCACCAGGGGGGGCAGGTGGGGTTGGGGCGCCCTCAGGCCAAGGAGGGGGCCCAAGTGGGGCAGATGCGGGTGCAGCGGGTGAACTGGAAGCCTGATCCCAGGGCCCGCGGCAGGTGCGCACAGGAGGGAGGAGGGACACAGGGGCACGGCGGCCGCGGAGGGCCCCTCAGTCCAGACGCACCCGCAGAGAACCCCGCGGTGCAGAGGTGCTCACTGGGGTCCCCGAGTGAGCCCGGCTGCTGGGTAGGTGGCCGGGGAGTGGGGATCCCTGCCCGCCCTGCCTGCTCCGCCTGCACTCACATGTACTTGCCACAGGGTGAGGGGCAGCCGGGGCACTCCTGGCACAGAGGCAGCTGGTAGCCTGAATGGCACTCGCATACGTTGCAGCGGCACCGGCCACGACCACTACACTCAACACGCCGCGGGTTCAGGCAGCCCTCAGTGGTCCTCTCGCACTGGCACGCTGAGCCCTCAAAGCCCGGGTGGCAGCGGCACTTCCCGCAGAAGCAGAGCCCCCTCCCTGGAAGACGGGGCAGCACGGCTAAGCTCCTGCTTGGCCTGGGAACCGAGACCCGCCCGAAACCCCACTGCGGTTGCTCCCTCCGGCCCGCCTGCCTCCTCCAGCCTGGGGGATGTTCCTGAGCAAAAGGCATGGGGCCACTAGCCAGGCCCTTCTGCCCCCGCCAGCCACGTGGCCGCCTCCTGGCCAGTCTGGACCTCCCCTGCCCTGCTGTGAATGGGACCTCAATAGGGCTATGACCGTTCCTCCTGTGGGCCCTCCCCACAAGGACGCCTTGTCCTCATGGACACAGAAACTGAGGCAGGGCGGGGTGCAGGGCCATCCAAGTTCCTGCTGACGCCCGGTGGCTGGGCGAGACTTGCACTGTCTGTCCTCAGGATCCCCCCTTTCTGTTCCACTCGTTGAATGGTCCAGAACGCACCCCCCAACACCAAGTCTGTGCCGCAGGACGGCCGTTGTCCAGCAGGGACCCACGGGCTCACCCGGGCCGCCGCAGACCTGGCCGTTGTAGCGCTCACAGTTGATGGTGTCACACTCGCAGTACTGCCCGTATATCAGCTTGCCGGGGACGTCGCTGGTGTGGCACAGGCACTGCCCGCAGACACAGTCCCCCAGCCCTGAGCAGATGATGGAGTTGTTGTCCTTCCGGCAGCTTCCTTCCAGCTCCTGGCTGCTCCGGCCCTGTGTCTGGCACTCACAGTTTTTCCCAATGTAGCCAGTGTCACACCTGGGGACAGGAGGGGCCCCAAGGTCAGGCTCCCCCCAGTGATGTGGGACAAGGGACAGCCGCCCTGTCCTCCAGGCCCCTTGCCCTTGGTGGAGAACACCCCTATGGCACATTTTGCTTTCCTCGAGGCCTACTGAGCACTTGCCACGGACTAAATGTGCTCAAAACGTGCAGGGGCCCCGCGTTCCCTCCCCAGGATGTCCCGAGGGGAAAGCAGACACCTGGCCTTGGCCTGCGCATGCAGTGGCTCGGCAGGCTCACTGTGGAGCTGTGTTGCAGCCATGCACATGGCCTGTGCTGCGATACCGGTGCTCTGTGAGTGGCTGGTGTCTGCTCCTGCGTGCCCCACATGGTGGCCAGTGGGGACTCGGCACTGCCTCCTGCCACAGCCCCGCCCTCCCTCCTGCGTTCGTGCACTGACAGGCCAGGTTGTGGGAGAATGCAGGGACAAGGGGTTTTTACAGATGTGGAAGCTGGCATCAAGCCGCTGGCAGGCAGGAGCCACACACACCCTGAGGCATCCTCAGN
|
pathogenic
| 320,192 |
The mutation in gene ITGB2 (integrin subunit beta 2) at chromosome 21, position 44888935—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
GGGCCTGCCACACACTCTAGGGAAGAAGCAGCACACCTGAGCGTCAGTCCAGCCCCATCTCACTGAGCCGTGTGCCCACAGGTCCGAGGTCACCCCACAACACAGCACTTAGAGAGACGGAGGTTCCCAGGGCCCCGGCTCACCATCCATCACCATGGCCAGGGGTCAGTGAGAACCTGGCCCAGCCCCTGCTGGATTCCAGGCCAGGCCCTGTGGTTCCAAATGAAACCTAAGGGCCATTGCCACCACCCCTGCTGACAGAGAAGAAGGCAGGGCCAGGGTACCGGGCAGCCAGGACAGAGTGCTAATACTGGGGGGTAGGACACAGTGCGAGGGACCCCGCTCTCCTACAGCAGAGTTCAGAACCAGGCTCAGGGTCCCTGCTGGAGTTCACTCCCCATACTGTGAAAGTGATTTGTGGTCGTCAAGGACAAGACCAGAGACCAGAGCTCAGCAGGTGAGGCCGGTGCCAGGATGAGCAACGCAAGGTCCTGGTTCCCACGGCAGCTGTGCCCACCTCCTGAGCATGGGGACTGTGGGCCATAGTGGGCCAGGCCCACAGCTGCTGACCCTGGGACAGACACTAGCGTTCAGTGCAGTCCCTGGCCTGGTCTGGCATCCTCACTCCCTGTACCCCTCCTGCCATCCTGACCTGCACCCTCACTCCCTGTGGTTGCTCCTGCCATCCTGATCTGCACCCTCACTCCCTGTGCCCCCTCCTGCCATCCTGACCTGCACTCTCACTCCCCGTGCCCCCTCCTGCCATCCTGCCTTTCCTGGGGGACCTGCCTTCCTTCACCTGTCCTCAAAGGTGAAGTGACTTGGCCAGGATTGCACAAACCAGACGTGACCCAAGTCTGTCCCTCAAAGTGGCCCGCAGGGGTTCCTGCCCTGGCAGGTGGGGGTCTGCAGCCCCAGGCCCACATGTGGGTTGTGAGCTCCAGGCATGTCACCTACAGGCTCAGAGACCCCCGCCGCCTGCCTCGGGTCCCTTCCTGGTGAGGGAGGAGCTCCCAGGTCTCAGTTCTGCAAGAGTCCTGGCCGGCTGCTGGCCATGCCTGATGGAGTCCGCCAGCGGCCCCCCAGCCCCAGCCCCTCTGCCTCTCAGGAGCCTGTGGAACATGAGACCTGAAGAAGCAGGGCCAGTGTCACCAAGGTCACCGTGGGGCTGGGCCTGGTTCCAACTGGAGCTGAATGAGACAGGGTCAGTGCCACCAAGGTCACTGTGGGGCTGGGACTGGTTCCGACTGGAGCCGAATGAGACAGGGTCAGTGCCACCAAGGTCACTGTGGGGCTGGGACTGGTTCCGACTGGACTGGAGCCGAACGAGTGATGGGGACGGTGGTGCCTGGTGGCCCTGGGCCCCTCCAGGGCTGAGAGCCGAGCACCAGGATCTCCCAATCCCCTCAAAGGAGCCTCACGCAGCAACCTGACCGCGGGCCACCCCTGGGGACCTGCAACTGCAAGCCTTGCCCCATGAGGCATCCAGCGGGAGATGGCCCGGGCCGTGTGGCATGCTGGTGGGCCTGCCCGGTGTGGAGCAGTGGTGCCCCCAGGGAGCAGGCCGTCTGCTGCCCAGCTTGATGTGGGGTCAGGTGAGGAGGGGAGGGAAAGGGGAGGCTGCTGGGGGTGAGGGGACCGGCCTCTGGCCTCCTTGCAATGCCAAGGGCATCCCGCATGGCTCATCCACCCTGCTGGGCCCACAACACTGGAGGTGAGATCCTCCTTCCGCACCACCCTCGCCTCTGCGGAGACCCCGCAGCCGGAGCTCTGGAGCCGGTCCCCGCTGCACCCCAGCGGCCTCACCTCGGCTCTCATCCACATAGATGAGGTAGCGGTCCATCCCGTCCTGCTGCTCCAGCGTGTAGGCCACCCAGCAGCCCTCTGAGTCCCTCTCCTTGCAGGTCCTGCCCTTCACGGGGTTGTTCGACAGCTGCAGGCCCGGACACGCCGCGCTGCAGTTCTTCCCAAAGGGGCCCTTTTCGAACTTCAGGCACTCGGCGCAGGAGCTGCGGGGAGCCAGGTGTGAGCATCGGTGCCAGGGTGTGCGGGGGCTCCGGCAACGGGGGCTCGGGCTTGGGTGTGTGTCCACCAGGGGGGGCAGGTGGGGTTGGGGCGCCCTCAGGCCAAGGAGGGGGCCCAAGTGGGGCAGATGCGGGTGCAGCGGGTGAACTGGAAGCCTGATCCCAGGGCCCGCGGCAGGTGCGCACAGGAGGGAGGAGGGACACAGGGGCACGGCGGCCGCGGAGGGCCCCTCAGTCCAGACGCACCCGCAGAGAACCCCGCGGTGCAGAGGTGCTCACTGGGGTCCCCGAGTGAGCCCGGCTGCTGGGTAGGTGGCCGGGGAGTGGGGATCCCTGCCCGCCCTGCCTGCTCCGCCTGCACTCACATGTACTTGCCACAGGGTGAGGGGCAGCCGGGGCACTCCTGGCACAGAGGCAGCTGGTAGCCTGAATGGCACTCGCATACGTTGCAGCGGCACCGGCCACGACCACTACACTCAACACGCCGCGGGTTCAGGCAGCCCTCAGTGGTCCTCTCGCACTGGCACGCTGAGCCCTCAAAGCCCGGGTGGCAGCGGCACTTCCCGCAGAAGCAGAGCCCCCTCCCTGGAAGACGGGGCAGCACGGCTAAGCTCCTGCTTGGCCTGGGAACCGAGACCCGCCCGAAACCCCACTGCGGTTGCTCCCTCCGGCCCGCCTGCCTCCTCCAGCCTGGGGGATGTTCCTGAGCAAAAGGCATGGGGCCACTAGCCAGGCCCTTCTGCCCCCGCCAGCCACGTGGCCGCCTCCTGGCCAGTCTGGACCTCCCCTGCCCTGCTGTGAATGGGACCTCAATAGGGCTATGACCGTTCCTCCTGTGGGCCCTCCCCACAAGGACGCCTTGTCCTCATGGACACAGAAACTGAGGCAGGGCGGGGTGCAGGGCCATCCAAGTTCCTGCTGACGCCCGGTGGCTGGGCGAGACTTGCACTGTCTGTCCTCAGGATCCCCCCTTTCTGTTCCACTCGTTGAATGGTCCAGAACGCACCCCCCAACACCAAGTCTGTGCCGCAGGACGGCCGTTGTCCAGCAGGGACCCACGGGCTCACCCGGGCCGCCGCAGACCTGGCCGTTGTAGCGCTCACAGTTGATGGTGTCACACTCGCAGTACTGCCCGTATATCAGCTTGCCGGGGACGTCGCTGGTGTGGCACAGGCACTGCCCGCAGACACAGTCCCCCAGCCCTGAGCAGATGATGGAGTTGTTGTCCTTCCGGCAGCTTCCTTCCAGCTCCTGGCTGCTCCGGCCCTGTGTCTGGCACTCACAGTTTTTCCCAATGTAGCCAGTGTCACACCTGGGGACAGGAGGGGCCCCAAGGTCAGGCTCCCCCCAGTGATGTGGGACAAGGGACAGCCGCCCTGTCCTCCAGGCCCCTTGCCCTTGGTGGAGAACACCCCTATGGCACATTTTGCTTTCCTCGAGGCCTACTGAGCACTTGCCACGGACTAAATGTGCTCAAAACGTGCAGGGGCCCCGCGTTCCCTCCCCAGGATGTCCCGAGGGGAAAGCAGACACCTGGCCTTGGCCTGCGCATGCAGTGGCTCGGCAGGCTCACTGTGGAGCTGTGTTGCAGCCATGCACATGGCCTGTGCTGCGATACCGGTGCTCTGTGAGTGGCTGGTGTCTGCTCCTGCGTGCCCCACATGGTGGCCAGTGGGGACTCGGCACTGCCTCCTGCCACAGCCCCGCCCTCCCTCCTGCGTTCGTGCACTGACAGGCCAGGTTGTGGGAGAATGCAGGGACAAGGGGTTTTTACAGATGTGGAAGCTGGCATCAAGCCGCTGGCAGGCAGGAGCCACACACACCCTGAGGCATCCTCAGAGACGGCACTGCCACGGGCTCTCCTGCTCCCCAGAGGAGGAAGCTGCAGGACCGAGTGTCTGAGTACCTGTGGCAGGGCACCCCCCGACACCTGCCAAGTGTTCCGACTGAGTCACCCCTACAGTCCCGTGAAGAGGCCGCCCCAGGGCTGCACACCCAGGACAGTGGGCGGGGTGGCCACTGAGGCACGAGGACAGCAACAGAGACCACCAAGACCACAGAGACCATCATTG
|
GGGCCTGCCACACACTCTAGGGAAGAAGCAGCACACCTGAGCGTCAGTCCAGCCCCATCTCACTGAGCCGTGTGCCCACAGGTCCGAGGTCACCCCACAACACAGCACTTAGAGAGACGGAGGTTCCCAGGGCCCCGGCTCACCATCCATCACCATGGCCAGGGGTCAGTGAGAACCTGGCCCAGCCCCTGCTGGATTCCAGGCCAGGCCCTGTGGTTCCAAATGAAACCTAAGGGCCATTGCCACCACCCCTGCTGACAGAGAAGAAGGCAGGGCCAGGGTACCGGGCAGCCAGGACAGAGTGCTAATACTGGGGGGTAGGACACAGTGCGAGGGACCCCGCTCTCCTACAGCAGAGTTCAGAACCAGGCTCAGGGTCCCTGCTGGAGTTCACTCCCCATACTGTGAAAGTGATTTGTGGTCGTCAAGGACAAGACCAGAGACCAGAGCTCAGCAGGTGAGGCCGGTGCCAGGATGAGCAACGCAAGGTCCTGGTTCCCACGGCAGCTGTGCCCACCTCCTGAGCATGGGGACTGTGGGCCATAGTGGGCCAGGCCCACAGCTGCTGACCCTGGGACAGACACTAGCGTTCAGTGCAGTCCCTGGCCTGGTCTGGCATCCTCACTCCCTGTACCCCTCCTGCCATCCTGACCTGCACCCTCACTCCCTGTGGTTGCTCCTGCCATCCTGATCTGCACCCTCACTCCCTGTGCCCCCTCCTGCCATCCTGACCTGCACTCTCACTCCCCGTGCCCCCTCCTGCCATCCTGCCTTTCCTGGGGGACCTGCCTTCCTTCACCTGTCCTCAAAGGTGAAGTGACTTGGCCAGGATTGCACAAACCAGACGTGACCCAAGTCTGTCCCTCAAAGTGGCCCGCAGGGGTTCCTGCCCTGGCAGGTGGGGGTCTGCAGCCCCAGGCCCACATGTGGGTTGTGAGCTCCAGGCATGTCACCTACAGGCTCAGAGACCCCCGCCGCCTGCCTCGGGTCCCTTCCTGGTGAGGGAGGAGCTCCCAGGTCTCAGTTCTGCAAGAGTCCTGGCCGGCTGCTGGCCATGCCTGATGGAGTCCGCCAGCGGCCCCCCAGCCCCAGCCCCTCTGCCTCTCAGGAGCCTGTGGAACATGAGACCTGAAGAAGCAGGGCCAGTGTCACCAAGGTCACCGTGGGGCTGGGCCTGGTTCCAACTGGAGCTGAATGAGACAGGGTCAGTGCCACCAAGGTCACTGTGGGGCTGGGACTGGTTCCGACTGGAGCCGAATGAGACAGGGTCAGTGCCACCAAGGTCACTGTGGGGCTGGGACTGGTTCCGACTGGACTGGAGCCGAACGAGTGATGGGGACGGTGGTGCCTGGTGGCCCTGGGCCCCTCCAGGGCTGAGAGCCGAGCACCAGGATCTCCCAATCCCCTCAAAGGAGCCTCACGCAGCAACCTGACCGCGGGCCACCCCTGGGGACCTGCAACTGCAAGCCTTGCCCCATGAGGCATCCAGCGGGAGATGGCCCGGGCCGTGTGGCATGCTGGTGGGCCTGCCCGGTGTGGAGCAGTGGTGCCCCCAGGGAGCAGGCCGTCTGCTGCCCAGCTTGATGTGGGGTCAGGTGAGGAGGGGAGGGAAAGGGGAGGCTGCTGGGGGTGAGGGGACCGGCCTCTGGCCTCCTTGCAATGCCAAGGGCATCCCGCATGGCTCATCCACCCTGCTGGGCCCACAACACTGGAGGTGAGATCCTCCTTCCGCACCACCCTCGCCTCTGCGGAGACCCCGCAGCCGGAGCTCTGGAGCCGGTCCCCGCTGCACCCCAGCGGCCTCACCTCGGCTCTCATCCACATAGATGAGGTAGCGGTCCATCCCGTCCTGCTGCTCCAGCGTGTAGGCCACCCAGCAGCCCTCTGAGTCCCTCTCCTTGCAGGTCCTGCCCTTCACGGGGTTGTTCGACAGCTGCAGGCCCGGACACGCCGCGCTGCAGTTCTTCCCAAAGGGGCCCTTTTCGAACTTCAGGCACTCGGCGCAGGAGCTGCGGGGAGCCAGGTGTGAGCATCGGTGCCAGGGTGTGCGGGGGGCTCCGGCAACGGGGGCTCGGGCTTGGGTGTGTGTCCACCAGGGGGGGCAGGTGGGGTTGGGGCGCCCTCAGGCCAAGGAGGGGGCCCAAGTGGGGCAGATGCGGGTGCAGCGGGTGAACTGGAAGCCTGATCCCAGGGCCCGCGGCAGGTGCGCACAGGAGGGAGGAGGGACACAGGGGCACGGCGGCCGCGGAGGGCCCCTCAGTCCAGACGCACCCGCAGAGAACCCCGCGGTGCAGAGGTGCTCACTGGGGTCCCCGAGTGAGCCCGGCTGCTGGGTAGGTGGCCGGGGAGTGGGGATCCCTGCCCGCCCTGCCTGCTCCGCCTGCACTCACATGTACTTGCCACAGGGTGAGGGGCAGCCGGGGCACTCCTGGCACAGAGGCAGCTGGTAGCCTGAATGGCACTCGCATACGTTGCAGCGGCACCGGCCACGACCACTACACTCAACACGCCGCGGGTTCAGGCAGCCCTCAGTGGTCCTCTCGCACTGGCACGCTGAGCCCTCAAAGCCCGGGTGGCAGCGGCACTTCCCGCAGAAGCAGAGCCCCCTCCCTGGAAGACGGGGCAGCACGGCTAAGCTCCTGCTTGGCCTGGGAACCGAGACCCGCCCGAAACCCCACTGCGGTTGCTCCCTCCGGCCCGCCTGCCTCCTCCAGCCTGGGGGATGTTCCTGAGCAAAAGGCATGGGGCCACTAGCCAGGCCCTTCTGCCCCCGCCAGCCACGTGGCCGCCTCCTGGCCAGTCTGGACCTCCCCTGCCCTGCTGTGAATGGGACCTCAATAGGGCTATGACCGTTCCTCCTGTGGGCCCTCCCCACAAGGACGCCTTGTCCTCATGGACACAGAAACTGAGGCAGGGCGGGGTGCAGGGCCATCCAAGTTCCTGCTGACGCCCGGTGGCTGGGCGAGACTTGCACTGTCTGTCCTCAGGATCCCCCCTTTCTGTTCCACTCGTTGAATGGTCCAGAACGCACCCCCCAACACCAAGTCTGTGCCGCAGGACGGCCGTTGTCCAGCAGGGACCCACGGGCTCACCCGGGCCGCCGCAGACCTGGCCGTTGTAGCGCTCACAGTTGATGGTGTCACACTCGCAGTACTGCCCGTATATCAGCTTGCCGGGGACGTCGCTGGTGTGGCACAGGCACTGCCCGCAGACACAGTCCCCCAGCCCTGAGCAGATGATGGAGTTGTTGTCCTTCCGGCAGCTTCCTTCCAGCTCCTGGCTGCTCCGGCCCTGTGTCTGGCACTCACAGTTTTTCCCAATGTAGCCAGTGTCACACCTGGGGACAGGAGGGGCCCCAAGGTCAGGCTCCCCCCAGTGATGTGGGACAAGGGACAGCCGCCCTGTCCTCCAGGCCCCTTGCCCTTGGTGGAGAACACCCCTATGGCACATTTTGCTTTCCTCGAGGCCTACTGAGCACTTGCCACGGACTAAATGTGCTCAAAACGTGCAGGGGCCCCGCGTTCCCTCCCCAGGATGTCCCGAGGGGAAAGCAGACACCTGGCCTTGGCCTGCGCATGCAGTGGCTCGGCAGGCTCACTGTGGAGCTGTGTTGCAGCCATGCACATGGCCTGTGCTGCGATACCGGTGCTCTGTGAGTGGCTGGTGTCTGCTCCTGCGTGCCCCACATGGTGGCCAGTGGGGACTCGGCACTGCCTCCTGCCACAGCCCCGCCCTCCCTCCTGCGTTCGTGCACTGACAGGCCAGGTTGTGGGAGAATGCAGGGACAAGGGGTTTTTACAGATGTGGAAGCTGGCATCAAGCCGCTGGCAGGCAGGAGCCACACACACCCTGAGGCATCCTCAGAGACGGCACTGCCACGGGCTCTCCTGCTCCCCAGAGGAGGAAGCTGCAGGACCGAGTGTCTGAGTACCTGTGGCAGGGCACCCCCCGACACCTGCCAAGTGTTCCGACTGAGTCACCCCTACAGTCCCGTGAAGAGGCCGCCCCAGGGCTGCACACCCAGGACAGTGGGCGGGGTGGCCACTGAGGCACGAGGACAGCAACAGAGACCACCAAGACCACAGAGACCATCATT
|
benign
| 320,197 |
The mutation in gene ITGB2 (integrin subunit beta 2) at chromosome 21, position 44906947—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Leukocyte_adhesion_deficiency_1']
|
TCCTGGCCCTGGCCCTCGCCCTGCTGTGCCTTGCAGCCCTCAGAGGCTTCACTTGGCCTCTGGGCCAAGGACCCCAATCACTTTCTATGAAGGGCCAGACAGTAAATGTGTTTGGCTTTGGGGGCCGTGCGGCGTCTGCAGCGACATGGAGGAGGCAGCCAAGACCATGTCCCCACGAGCAATGTGGCCATGCTGCAGTCAAAGGGCACAGACATAGGCCTTTGGTGGCTGACCAAGGGGCCCCGTCCCTTCCCTTCCAGAGTAGAGGCTCAGCGAAGGGCCAGCAGGCTGCGGGGGTAGGGCCAGGACCCCGCGAGAGGACAGTCCCTTCCCAGATCCTGCCGCCCTGCTCTGGGAGCCTGTGGCCCTGGGGTGCTGTTAAGATCTCTCCCTGGTGCTCACCCGAGTTTGCCTACCCTCACCTGCATCCACCCGAGCTCACCTGTGCCCTCCCAGAGGCCACAGCATTTGCCCCCTGCACAGTGGGGATGCATGCCAGGCCGTGGGCAGCCACTCCCCCACCCTTCCCCACGGCACAAGGATGCCCCCACTCAGGCGCACCCCCACCCTCCAGGACGATCCTTCCTGACACCTCCAGCACCACAGAGCTGCACAAACTCTGGCCACAGGCAACACCTCTGTCAGCCTCAGTTTCCTCACTGTGAAGTGGGGCGTGGGGAAAATACATCAGAGCTGCCTCCAGGGGCCACAGGGCCAGGCCCTCGAGTTTGAGGTCAGAGGTGGAGGTTCCAGCACGAAGGGGCTTGTGCCTGCTCACGGGGCAGCGAGGGGCAGGCCTGACCCTACCACCAGGGTGGGGTTTTGTCCCCTGCTGCCCCCAGGGACACCTGGGCCCTGCTCCTGCAGGACCTCCCCAATGGCTCGGCCCCATCCCTCACTGTCTCCCAGCTGCCTCCCTCCCGGCTGCTGCTGGCTGTCACCTGGCCGCCTGCACCCTGGGCCACTCTGCCCCAAGGCTAACTCAGTGGCCGCTGACCTGGGCTTCCCCTGAGGGCAGAGCTCTGAGCCCCAGCCTGTCCGACACCAGCTGGTTCCTCTAAAGTCACCCTGGCCCCGTCTGCACCCTCTCCCTGGGAGATGGCTTCCCCTTCCTTCCCTGGCCTCACTGTGGCCTGGGAGGTCACAGGTCGGTGGCCACACCAGGCCTCCTTCTCCCATCTGCTGCACCACCACACCTGCCTTCCTGGAGCAAGGAGGGAGCTTCGTTTCTTCCCTCCCTTCCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCCTTCTCTTCCCTTCCTTTCTTTTCATTTTGAGACAGAATCTCGCCCTGTCGCCCAGGCTAAAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCGCAGCAGGAGAATGTTGGCCAGGCTGGTCTCGAACCCCCGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGATAAGGAGGGCGTTTCTCAAAGCACTGACAGGGGACTGTGTTCTGAAACAGGTGCTCTGGTCAAGTCGAAACAGGTGCTCTGGTCAAGTCAGTTTGGGCAACACTGGTTTAAACAGTTACTTAGGTCTCTTGGCTGCAAGACTGATCAGAGCCTTTACTCTTCTAAGAGTACCCTGGCCTTCTGAGTGTGTAATGGAATAGTGTTTTGCAAATGGTTTGGTCTCCCTTTAAAAAAAAAAGGTGCAGAACGTCGGGCTGCGAGAGAGTGCAGACACTGGGCACCGATGGTAAGGGCTGGGGCAGCTCCACCTGGGGACAGAGCGGAAGGGCACTGAGGAGCTCAGCTTTCCAGCAGCCTTGGGGCTTCACTGGCCCACACACCCGTCCGACCCGGACACATGCCTTCTGGGCAGCCCTGACACCCCAGAGCAGGGCCGGACTCCCAGCCAGAGCCAATAACCAGCACAGACGGTGCCTGGCACCACCACCGAGGCCAAGCCTACCTGGTCGCAGGTAAAGCGTCACTTTTTGTGGGGACAGCTGCTTCTGGCCCCCATTGTGGTCTTCCTGGGTTTCAGCGAGGCTTGTGGGGTCCATGATGTCGTCAGCCGCACAGCCCCTCATGAGCAGCTGTGGCCGGGTGTCGCAGCGAATGGAGTCAGGATCCCCCGGCCCTGTGAAGTTCTGGGGAGGGGGAGTCAGGGGTCAGGAGGGGGCCACACTGCGGGACCTGCAGGAGGCTGACTGGCCATGGAGGACTGAGGACCCACCCTGTCCCCTCCTCCTCTGCGCCTGGAATTTGGGACAGAAGTCCCTGTGGACAGAGACAGGGAGCTCCTTCAGCCTCCCAGACAGCCCCTCCCTGAAGGCTCCCGGCCACAGCAGACCCCTGGGGGGCAGGGTATCGCCTCCTCCTCTGCCTCTAGCGGCAGAAAGGACTCAGGACCTACTCTCCAGCCCGAGGCTGACCCAAGAGGAGAGGCCTCAGCGTCCTCTAGCAGCTGGCCCAGGGGCTTCAAGCCCTTCATCAGCAGAACCTTTGTCCAAGGGAGTTGCTGTGTCCCAAAGGAACGTGGCAGTCCCTAGGCCCCCAAGAAACCCAGAACATGGGCAGGGTTCTGGGCCAAGCCCCTCAAAGTTTAGAAGAACAAAAGCTGGAGGGGAGCCTGGGAGGCCTGGGCCCAGGGCGCTTTCCTCTCAGCCACTTTGTCCCTGCAAATCCCCTGGATTCTGATGAGGGCTGTGTTTGGTGGGTCCCGTCACTGGCCCCGAGCCTGCTGCCTCTACAGGGAAGGGTGCTGGTGATGCGGGGCCAGAAGCGCGTGTTTGTGCACTTGCTTTCGTAGAGGGAAGCTCAGGAGGATAAGCCCGGCCCCCAGAGGCTGGTGAGTCCCGCAGGCAGGGGGGCAGGTGGGAGGGGAGGGCGACAGTCCCCAGGGTGCCTCTTTGTAGGGCTCTGACTTTTGGAACCACAGAATTTTTTAAAGAAGTCCTCCAGAAATAAAAGTACATCAGCAAGTATCCCAGCAAGAGAGAAAAGAAAGCCTAAATGTAATCCACACAGAAACAAACAAATCTCACTGAAAGGTGTTTATTTCAGAGGAGCTGAAAACCTCCAGAAAGGGGAGGGAAAAAACCCAGCCTGACCAAGGTAGTTTCCACCTGGGGCCTGGCCACCCTGCTCAGTCCGAGGACAGACGGGAGCCACCCGGCTTCTCCTCCGGGGACTGCTCGCCGCGGTGGCGTGGGCTGGAGGACCCAAAGCCGCTCCCTGTGGGACGCAAAATTGAGAAATGAGGAAGCTGCTGACGGTAAGGAATGAGACACCACTTCTCCTGCTGCCCTCCCCTTCTTCTCCACCCCCTCCCCTTCTCTAGTTTATAAGACAGGAGAAAAGAGAGAAAGCAAAAAGTTGGAAAGAAACAGAAGTAAGATAAATAGCCAGATGACCTTGGCGCCACCACCCGGCCCTGGTGGTTAAACTAATAATATTATTATTATTATTATTATTAACCCCTGACCAAAACTACTGGTGTTATCTGTAAATTCCAGACATTGTATGAAAAAGCATTGCAAAACTTTCTGTTCTGTCAGCTGATGCATGTAACCCCCAGTCAAGTTCCCCACACTTGCTCTATCTATCACAACCCTTTCATGTGGACCCCTTAGAGTTGTAAGCCCTTAAAAGGGCTAGGAATTTCTTTTTCGGGGAGCTCGGCTCTTAAGACGCAAGTCTGCTGACACTCCTGGCCAAATAAAGCCCTTCCTTCTTTAACCGAGTGTCTGAGGAATTCTGTCTGCGGCTTGTCCGGCTACAACGGTGCTGGAGCCCAGACTCTCAGGGAAAGGAACCCGAGCCGTCAGAAAACCATCTGATTCCAGGCTGGGGCAAGGGACATGGAGATGGGCCTGCAGCATCATGTTGCTCCAGAAAGCAAGAAAGTGCTCAGAACGGTAGAACGGGGATGCATGGACAGGACACGCAGCCAGACCCAGCGGATTTGAGCAACTCGGGGAAGAAAGGACAGCCACAGATCATGCACTACTGAACAAAATAAAACTGTGGGTCACGCTGATGAGAGA
|
TCCTGGCCCTGGCCCTCGCCCTGCTGTGCCTTGCAGCCCTCAGAGGCTTCACTTGGCCTCTGGGCCAAGGACCCCAATCACTTTCTATGAAGGGCCAGACAGTAAATGTGTTTGGCTTTGGGGGCCGTGCGGCGTCTGCAGCGACATGGAGGAGGCAGCCAAGACCATGTCCCCACGAGCAATGTGGCCATGCTGCAGTCAAAGGGCACAGACATAGGCCTTTGGTGGCTGACCAAGGGGCCCCGTCCCTTCCCTTCCAGAGTAGAGGCTCAGCGAAGGGCCAGCAGGCTGCGGGGGTAGGGCCAGGACCCCGCGAGAGGACAGTCCCTTCCCAGATCCTGCCGCCCTGCTCTGGGAGCCTGTGGCCCTGGGGTGCTGTTAAGATCTCTCCCTGGTGCTCACCCGAGTTTGCCTACCCTCACCTGCATCCACCCGAGCTCACCTGTGCCCTCCCAGAGGCCACAGCATTTGCCCCCTGCACAGTGGGGATGCATGCCAGGCCGTGGGCAGCCACTCCCCCACCCTTCCCCACGGCACAAGGATGCCCCCACTCAGGCGCACCCCCACCCTCCAGGACGATCCTTCCTGACACCTCCAGCACCACAGAGCTGCACAAACTCTGGCCACAGGCAACACCTCTGTCAGCCTCAGTTTCCTCACTGTGAAGTGGGGCGTGGGGAAAATACATCAGAGCTGCCTCCAGGGGCCACAGGGCCAGGCCCTCGAGTTTGAGGTCAGAGGTGGAGGTTCCAGCACGAAGGGGCTTGTGCCTGCTCACGGGGCAGCGAGGGGCAGGCCTGACCCTACCACCAGGGTGGGGTTTTGTCCCCTGCTGCCCCCAGGGACACCTGGGCCCTGCTCCTGCAGGACCTCCCCAATGGCTCGGCCCCATCCCTCACTGTCTCCCAGCTGCCTCCCTCCCGGCTGCTGCTGGCTGTCACCTGGCCGCCTGCACCCTGGGCCACTCTGCCCCAAGGCTAACTCAGTGGCCGCTGACCTGGGCTTCCCCTGAGGGCAGAGCTCTGAGCCCCAGCCTGTCCGACACCAGCTGGTTCCTCTAAAGTCACCCTGGCCCCGTCTGCACCCTCTCCCTGGGAGATGGCTTCCCCTTCCTTCCCTGGCCTCACTGTGGCCTGGGAGGTCACAGGTCGGTGGCCACACCAGGCCTCCTTCTCCCATCTGCTGCACCACCACACCTGCCTTCCTGGAGCAAGGAGGGAGCTTCGTTTCTTCCCTCCCTTCCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCCTTCTCTTCCCTTCCTTTCTTTTCATTTTGAGACAGAATCTCGCCCTGTCGCCCAGGCTAAAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCGCAGCAGGAGAATGTTGGCCAGGCTGGTCTCGAACCCCCGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGATAAGGAGGGCGTTTCTCAAAGCACTGACAGGGGACTGTGTTCTGAAACAGGTGCTCTGGTCAAGTCGAAACAGGTGCTCTGGTCAAGTCAGTTTGGGCAACACTGGTTTAAACAGTTACTTAGGTCTCTTGGCTGCAAGACTGATCAGAGCCTTTACTCTTCTAAGAGTACCCTGGCCTTCTGAGTGTGTAATGGAATAGTGTTTTGCAAATGGTTTGGTCTCCCTTTAAAAAAAAAAGGTGCAGAACGTCGGGCTGCGAGAGAGTGCAGACACTGGGCACCGATGGTAAGGGCTGGGGCAGCTCCACCTGGGGACAGAGCGGAAGGGCACTGAGGAGCTCAGCTTTCCAGCAGCCTTGGGGCTTCACTGGCCCACACACCCGTCCGACCCGGACACATGCCTTCTGGGCAGCCCTGACACCCCAGAGCAGGGCCGGACTCCCAGCCAGAGCCAATAACCAGCACAGACGGTGCCTGGCACCACCACCGAGGCCAAGCCTACCTGGTCGCAGGTAAAGCGTCACTTTTTGTGGGGCAGCTGCTTCTGGCCCCCATTGTGGTCTTCCTGGGTTTCAGCGAGGCTTGTGGGGTCCATGATGTCGTCAGCCGCACAGCCCCTCATGAGCAGCTGTGGCCGGGTGTCGCAGCGAATGGAGTCAGGATCCCCCGGCCCTGTGAAGTTCTGGGGAGGGGGAGTCAGGGGTCAGGAGGGGGCCACACTGCGGGACCTGCAGGAGGCTGACTGGCCATGGAGGACTGAGGACCCACCCTGTCCCCTCCTCCTCTGCGCCTGGAATTTGGGACAGAAGTCCCTGTGGACAGAGACAGGGAGCTCCTTCAGCCTCCCAGACAGCCCCTCCCTGAAGGCTCCCGGCCACAGCAGACCCCTGGGGGGCAGGGTATCGCCTCCTCCTCTGCCTCTAGCGGCAGAAAGGACTCAGGACCTACTCTCCAGCCCGAGGCTGACCCAAGAGGAGAGGCCTCAGCGTCCTCTAGCAGCTGGCCCAGGGGCTTCAAGCCCTTCATCAGCAGAACCTTTGTCCAAGGGAGTTGCTGTGTCCCAAAGGAACGTGGCAGTCCCTAGGCCCCCAAGAAACCCAGAACATGGGCAGGGTTCTGGGCCAAGCCCCTCAAAGTTTAGAAGAACAAAAGCTGGAGGGGAGCCTGGGAGGCCTGGGCCCAGGGCGCTTTCCTCTCAGCCACTTTGTCCCTGCAAATCCCCTGGATTCTGATGAGGGCTGTGTTTGGTGGGTCCCGTCACTGGCCCCGAGCCTGCTGCCTCTACAGGGAAGGGTGCTGGTGATGCGGGGCCAGAAGCGCGTGTTTGTGCACTTGCTTTCGTAGAGGGAAGCTCAGGAGGATAAGCCCGGCCCCCAGAGGCTGGTGAGTCCCGCAGGCAGGGGGGCAGGTGGGAGGGGAGGGCGACAGTCCCCAGGGTGCCTCTTTGTAGGGCTCTGACTTTTGGAACCACAGAATTTTTTAAAGAAGTCCTCCAGAAATAAAAGTACATCAGCAAGTATCCCAGCAAGAGAGAAAAGAAAGCCTAAATGTAATCCACACAGAAACAAACAAATCTCACTGAAAGGTGTTTATTTCAGAGGAGCTGAAAACCTCCAGAAAGGGGAGGGAAAAAACCCAGCCTGACCAAGGTAGTTTCCACCTGGGGCCTGGCCACCCTGCTCAGTCCGAGGACAGACGGGAGCCACCCGGCTTCTCCTCCGGGGACTGCTCGCCGCGGTGGCGTGGGCTGGAGGACCCAAAGCCGCTCCCTGTGGGACGCAAAATTGAGAAATGAGGAAGCTGCTGACGGTAAGGAATGAGACACCACTTCTCCTGCTGCCCTCCCCTTCTTCTCCACCCCCTCCCCTTCTCTAGTTTATAAGACAGGAGAAAAGAGAGAAAGCAAAAAGTTGGAAAGAAACAGAAGTAAGATAAATAGCCAGATGACCTTGGCGCCACCACCCGGCCCTGGTGGTTAAACTAATAATATTATTATTATTATTATTATTAACCCCTGACCAAAACTACTGGTGTTATCTGTAAATTCCAGACATTGTATGAAAAAGCATTGCAAAACTTTCTGTTCTGTCAGCTGATGCATGTAACCCCCAGTCAAGTTCCCCACACTTGCTCTATCTATCACAACCCTTTCATGTGGACCCCTTAGAGTTGTAAGCCCTTAAAAGGGCTAGGAATTTCTTTTTCGGGGAGCTCGGCTCTTAAGACGCAAGTCTGCTGACACTCCTGGCCAAATAAAGCCCTTCCTTCTTTAACCGAGTGTCTGAGGAATTCTGTCTGCGGCTTGTCCGGCTACAACGGTGCTGGAGCCCAGACTCTCAGGGAAAGGAACCCGAGCCGTCAGAAAACCATCTGATTCCAGGCTGGGGCAAGGGACATGGAGATGGGCCTGCAGCATCATGTTGCTCCAGAAAGCAAGAAAGTGCTCAGAACGGTAGAACGGGGATGCATGGACAGGACACGCAGCCAGACCCAGCGGATTTGAGCAACTCGGGGAAGAAAGGACAGCCACAGATCATGCACTACTGAACAAAATAAAACTGTGGGTCACGCTGATGAGAGAN
|
pathogenic
| 320,239 |
For chromosome 21, position 44910310, gene ITGB2 (integrin subunit beta 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Leukocyte_adhesion_deficiency_1', 'Leukocyte_adhesion_deficiency_3']
|
TCTTCTCCACCCCCTCCCCTTCTCTAGTTTATAAGACAGGAGAAAAGAGAGAAAGCAAAAAGTTGGAAAGAAACAGAAGTAAGATAAATAGCCAGATGACCTTGGCGCCACCACCCGGCCCTGGTGGTTAAACTAATAATATTATTATTATTATTATTATTAACCCCTGACCAAAACTACTGGTGTTATCTGTAAATTCCAGACATTGTATGAAAAAGCATTGCAAAACTTTCTGTTCTGTCAGCTGATGCATGTAACCCCCAGTCAAGTTCCCCACACTTGCTCTATCTATCACAACCCTTTCATGTGGACCCCTTAGAGTTGTAAGCCCTTAAAAGGGCTAGGAATTTCTTTTTCGGGGAGCTCGGCTCTTAAGACGCAAGTCTGCTGACACTCCTGGCCAAATAAAGCCCTTCCTTCTTTAACCGAGTGTCTGAGGAATTCTGTCTGCGGCTTGTCCGGCTACAACGGTGCTGGAGCCCAGACTCTCAGGGAAAGGAACCCGAGCCGTCAGAAAACCATCTGATTCCAGGCTGGGGCAAGGGACATGGAGATGGGCCTGCAGCATCATGTTGCTCCAGAAAGCAAGAAAGTGCTCAGAACGGTAGAACGGGGATGCATGGACAGGACACGCAGCCAGACCCAGCGGATTTGAGCAACTCGGGGAAGAAAGGACAGCCACAGATCATGCACTACTGAACAAAATAAAACTGTGGGTCACGCTGATGAGAGAGAGGCTGCAGAGAAGGAGAGACCCTTCCTTAGGTTGGCAGCCGTGAGTGGCAGGCGGGGACCAGCACGGCACCAATCTGCAGCCATCGCAGTGATGGCGGCTTCAGGCGGGGACCTCCGCGGATGCTGAGCCTGCGGGTGCGATTTGATGAGGGCAGAACCTCACCAGCCCACAGTGGCTGCGAGGGGATCATGCAGCGGGATGGGGAGGCCGGGGGGATGCCGTCTCAGCAGAGCCGTCCACGCTGACCTCATCAAGACTGGGACGGGGCCACAGCAGTGCCTCTCATGGGCACTTAGGACACCGTCACTGAGGGGCTCCTGCCAAAGCACACCTGAGTCCAGGCAGAGGAAACTCCAGACAAGACCCCCGAGGGTCATGCTACAAAGCTGCTCTCCTGACTTCCTCAGAAACGCCCAAGGACAGGAAAGACAAAGAAAGCTGAGGACTTGTCCAGATTCAAGAAGCCCAAGGAGACGGCTGAGCGTAGGGCGAGCCTGGGTGAGGAGATTCAGAGCGTTAGACGGCTGAGCGCAGTGTGTGAACCTGGGTTAGGAGATTTGGGGCCTGAGATGGCTGAGTGCAGGGTGAGCCTGAGTGAGGAGATTCTGAGCCTGAGACAGCTGAGCACAGGGTGAGCCTGGGTGACAAAATCCACCAGGAAAATATGCTCACGAAGACATCATTGGGACAACCAATAAAATATGCGTAGTGTGTAGGTTTGATGATAATGAGATACCAATGCTGAATTTCCTGAATTTGATACATGAATTTATCAAATATAGATATACATGTATCAAAATACATTTACATCAAAGTACATTTCCTCTTGGCCACCTTGTCCCTGCAAAGCCCCTGGATTCTGATAAGGGCTGTGTTTGGTGGGTCCCGTCACTGGCCCCAAACCTGCTGACTCTGCAGGAAAGCGTGCTGGCGATGCGGGGCCAGAAGCGCGCGTGTTTCTGCACTTGCTTACGTAGTTTTGTAAGTGAAAACCTTGTTCTTAAGAAAGACCTCCCTTGAAGTACTAAGAGACAAAGGGCTCCATGTCTACAACCTACTCGGAAATGGCTGAGAAAAAATACAAGTGTGTGTTCTGTGTGTGTTTCCAAACAGACCACACATCAGAACCTCAGGGGCCCCTTGAGGGGAGGGTGAGGCCAGGGTCTGGGGACCCCCTCAAAAAGAAAATGGAGTTGTTGGTCCTCTGGGTGCCACTGGCTTCAGGGGCAGGAAAGGGCCCTCACCCAGGAGCTGGGCAGGTGGGGAGGGGTCCAGGAGGCACTTACCAGCTTCTGGCACCAGGTGCAGCCGGGCCCCGACTCGATGCATTCCCGGCAGCTGCTGACCTTGAACTTCGTGCACTCCTGAGAGAGGACTGAGGGACGAGGCCGGCTGGTGAGTGGGTGCTCTGGGCCGCCCTGCCCACACCCAAGGGGGAGTAGAGCAGGAAGGTCAGAGGAGGCCCAAAAAGACAGGGAGGCAGCCTCCAGGAGGAGACCCCGCATTCGCCACCACCCCCAGGTGCAAAGAGGGGCCCTCGGGAAACAGCACAGCTACAGCCTCCTGGCACGTGCGGAGACGAGGCCTGAGTCCCCGACCTACCCCCAGTGGCAAGGTCCTTCCCCAGCCTCCCGGGAACTTCTGTCTATGGGAAAGTGAGGGCAGGCCCTGTTCTCCCTGATTGGAATGTCACGCGTGGAGTCCCCTCCGTGGAACACAGAACTCACCGCACCCGAGGGAGAGCAGCCCCACCAGGGCGAGCAGTGGGGGGCGCAGGCCCAGCATGTCCTGTGGAGGGAAGGGGTCTTGGTGACGGTCTCAGGCCCAACCCCTGGGGCTGACCACCCATGAAGCTCCCCTCCAGCTGGCCTGGGACAAGGAGCTGGGGCCCTGTCCCTGCTGCAGGGGGTGGGTTAGGGTCAGGCCAGCACAGCTGCACTGGGCCCAGCTGCCAACAGCCAGGGAGGGAGGGATCCCGGGCTCAGCAGTGCGGGCAGCACACCTGCTCAGCCAGGCACCCAGGACAGCTGCAGCGGGCCCCTGCAGAGGCACACAACACAGGCACACACACACATGCAGACGTGTACACACACCACACATGCACGTGTACGTGCATACAGATGTGTGCCTGACTGCATGTACACACCACGTGCATGCACACACCACACATATACATGCATCACACCACACATATGTACACACAGAGATGTATACACCCCTTACCCACACCATACTCCCCGCAAGACACTACACACCACACACAAATATACACATGCACACGTACACACACATACACACCACACAGACACACACACCACACGCACACACCATACACACGTGCAAATGTACACGCACACAAACACCAGAACCCCACACACCCGGTGTGTGCACTCTGCCCCAGTGTGCCCCAGGTCCTCCGTGAGCAGAGCCTGTGCTTGGAGGAGAGCTGGGCTTGGCCCTGTCTCTCTGTGGCAGAAACATAGCCAGGAAGAGAAAGCTGGCTGGATGCCCGCGGGTGCCAGGCTGTGTGCCAGGAAGAGAAAGCTGGCTTGATGCCCGCGGGTGCCAAGCTGTGTGCTAGGCCTGCCCAGGAGCCCTGCAGTCCCTGCCAGGTGGGAAAAAAAGTCACCTGACTTGCCCAAGCCACCAGTTGCCGGGGTCCTGCCCTTTTGTTTCCAGATACACACCCACCCCGTCCTTAACCCACGCATCCACAGCCAGGGGCGGCTCAGTGGTCACTCACAGGCCCTCGGCCCCAGAGGCAAAATGACGGAAGCAGGCCTCAGCCTGGTGCTGGAGGCCGGCAGCACCTCCTAGCGGGCAGCAGGGCCGTTCCACCCCTGGGTTCCCTTCCCTCCATCCGGGAGGTGCCCAAACCAGGCCTAGGTCGGCTCCTTGGGGGGTCTTAGGGCTTCCTAGGTGGGGTGGGCCCCTGGGTCTGACCTCCCAGGACCTGAGAACATTATAGCTGGCTGGGACCCTTTTATCTGGCACCAAGAAGGTGGAGAGGTACTGAGAAGGGGTACCCAGGAGCCTTCCTGTCATGGTGGGCAGGAAGACATTTCCGTTACCCTGGGGCTGTTGTCAGAAGCAAAGATCAACACACCTCCTCCAGCAAATGCCAGTTCCTGTCACGGCCTCCCAGGCTGCTGGGGCGTTCCTGCCCCACACCCTTCCCTCGGGTGGTGCTGGCAGGGCCACCCAAGGTTCAGTGGGCAGACCCAAGCCAGCAGAGCCCCAAACTAGGGCCTGCCGGCTTTGAAGACAGCGCTGGGTGCTGTGCTGTGGCCCGGGAGGCTCGGGTGCCCTCAGCCACAGGCCCTGGCTCCCCTCCATCCCCCGAAAGCCCTGCACCTGTGC
|
TCTTCTCCACCCCCTCCCCTTCTCTAGTTTATAAGACAGGAGAAAAGAGAGAAAGCAAAAAGTTGGAAAGAAACAGAAGTAAGATAAATAGCCAGATGACCTTGGCGCCACCACCCGGCCCTGGTGGTTAAACTAATAATATTATTATTATTATTATTATTAACCCCTGACCAAAACTACTGGTGTTATCTGTAAATTCCAGACATTGTATGAAAAAGCATTGCAAAACTTTCTGTTCTGTCAGCTGATGCATGTAACCCCCAGTCAAGTTCCCCACACTTGCTCTATCTATCACAACCCTTTCATGTGGACCCCTTAGAGTTGTAAGCCCTTAAAAGGGCTAGGAATTTCTTTTTCGGGGAGCTCGGCTCTTAAGACGCAAGTCTGCTGACACTCCTGGCCAAATAAAGCCCTTCCTTCTTTAACCGAGTGTCTGAGGAATTCTGTCTGCGGCTTGTCCGGCTACAACGGTGCTGGAGCCCAGACTCTCAGGGAAAGGAACCCGAGCCGTCAGAAAACCATCTGATTCCAGGCTGGGGCAAGGGACATGGAGATGGGCCTGCAGCATCATGTTGCTCCAGAAAGCAAGAAAGTGCTCAGAACGGTAGAACGGGGATGCATGGACAGGACACGCAGCCAGACCCAGCGGATTTGAGCAACTCGGGGAAGAAAGGACAGCCACAGATCATGCACTACTGAACAAAATAAAACTGTGGGTCACGCTGATGAGAGAGAGGCTGCAGAGAAGGAGAGACCCTTCCTTAGGTTGGCAGCCGTGAGTGGCAGGCGGGGACCAGCACGGCACCAATCTGCAGCCATCGCAGTGATGGCGGCTTCAGGCGGGGACCTCCGCGGATGCTGAGCCTGCGGGTGCGATTTGATGAGGGCAGAACCTCACCAGCCCACAGTGGCTGCGAGGGGATCATGCAGCGGGATGGGGAGGCCGGGGGGATGCCGTCTCAGCAGAGCCGTCCACGCTGACCTCATCAAGACTGGGACGGGGCCACAGCAGTGCCTCTCATGGGCACTTAGGACACCGTCACTGAGGGGCTCCTGCCAAAGCACACCTGAGTCCAGGCAGAGGAAACTCCAGACAAGACCCCCGAGGGTCATGCTACAAAGCTGCTCTCCTGACTTCCTCAGAAACGCCCAAGGACAGGAAAGACAAAGAAAGCTGAGGACTTGTCCAGATTCAAGAAGCCCAAGGAGACGGCTGAGCGTAGGGCGAGCCTGGGTGAGGAGATTCAGAGCGTTAGACGGCTGAGCGCAGTGTGTGAACCTGGGTTAGGAGATTTGGGGCCTGAGATGGCTGAGTGCAGGGTGAGCCTGAGTGAGGAGATTCTGAGCCTGAGACAGCTGAGCACAGGGTGAGCCTGGGTGACAAAATCCACCAGGAAAATATGCTCACGAAGACATCATTGGGACAACCAATAAAATATGCGTAGTGTGTAGGTTTGATGATAATGAGATACCAATGCTGAATTTCCTGAATTTGATACATGAATTTATCAAATATAGATATACATGTATCAAAATACATTTACATCAAAGTACATTTCCTCTTGGCCACCTTGTCCCTGCAAAGCCCCTGGATTCTGATAAGGGCTGTGTTTGGTGGGTCCCGTCACTGGCCCCAAACCTGCTGACTCTGCAGGAAAGCGTGCTGGCGATGCGGGGCCAGAAGCGCGCGTGTTTCTGCACTTGCTTACGTAGTTTTGTAAGTGAAAACCTTGTTCTTAAGAAAGACCTCCCTTGAAGTACTAAGAGACAAAGGGCTCCATGTCTACAACCTACTCGGAAATGGCTGAGAAAAAATACAAGTGTGTGTTCTGTGTGTGTTTCCAAACAGACCACACATCAGAACCTCAGGGGCCCCTTGAGGGGAGGGTGAGGCCAGGGTCTGGGGACCCCCTCAAAAAGAAAATGGAGTTGTTGGTCCTCTGGGTGCCACTGGCTTCAGGGGCAGGAAAGGGCCCTCACCCAGGAGCTGGGCAGGTGGGGAGGGGTCCAGGAGGCACTTACCAGCTTCTGGCACCAGGTGCAGCCGGGCCCGACTCGATGCATTCCCGGCAGCTGCTGACCTTGAACTTCGTGCACTCCTGAGAGAGGACTGAGGGACGAGGCCGGCTGGTGAGTGGGTGCTCTGGGCCGCCCTGCCCACACCCAAGGGGGAGTAGAGCAGGAAGGTCAGAGGAGGCCCAAAAAGACAGGGAGGCAGCCTCCAGGAGGAGACCCCGCATTCGCCACCACCCCCAGGTGCAAAGAGGGGCCCTCGGGAAACAGCACAGCTACAGCCTCCTGGCACGTGCGGAGACGAGGCCTGAGTCCCCGACCTACCCCCAGTGGCAAGGTCCTTCCCCAGCCTCCCGGGAACTTCTGTCTATGGGAAAGTGAGGGCAGGCCCTGTTCTCCCTGATTGGAATGTCACGCGTGGAGTCCCCTCCGTGGAACACAGAACTCACCGCACCCGAGGGAGAGCAGCCCCACCAGGGCGAGCAGTGGGGGGCGCAGGCCCAGCATGTCCTGTGGAGGGAAGGGGTCTTGGTGACGGTCTCAGGCCCAACCCCTGGGGCTGACCACCCATGAAGCTCCCCTCCAGCTGGCCTGGGACAAGGAGCTGGGGCCCTGTCCCTGCTGCAGGGGGTGGGTTAGGGTCAGGCCAGCACAGCTGCACTGGGCCCAGCTGCCAACAGCCAGGGAGGGAGGGATCCCGGGCTCAGCAGTGCGGGCAGCACACCTGCTCAGCCAGGCACCCAGGACAGCTGCAGCGGGCCCCTGCAGAGGCACACAACACAGGCACACACACACATGCAGACGTGTACACACACCACACATGCACGTGTACGTGCATACAGATGTGTGCCTGACTGCATGTACACACCACGTGCATGCACACACCACACATATACATGCATCACACCACACATATGTACACACAGAGATGTATACACCCCTTACCCACACCATACTCCCCGCAAGACACTACACACCACACACAAATATACACATGCACACGTACACACACATACACACCACACAGACACACACACCACACGCACACACCATACACACGTGCAAATGTACACGCACACAAACACCAGAACCCCACACACCCGGTGTGTGCACTCTGCCCCAGTGTGCCCCAGGTCCTCCGTGAGCAGAGCCTGTGCTTGGAGGAGAGCTGGGCTTGGCCCTGTCTCTCTGTGGCAGAAACATAGCCAGGAAGAGAAAGCTGGCTGGATGCCCGCGGGTGCCAGGCTGTGTGCCAGGAAGAGAAAGCTGGCTTGATGCCCGCGGGTGCCAAGCTGTGTGCTAGGCCTGCCCAGGAGCCCTGCAGTCCCTGCCAGGTGGGAAAAAAAGTCACCTGACTTGCCCAAGCCACCAGTTGCCGGGGTCCTGCCCTTTTGTTTCCAGATACACACCCACCCCGTCCTTAACCCACGCATCCACAGCCAGGGGCGGCTCAGTGGTCACTCACAGGCCCTCGGCCCCAGAGGCAAAATGACGGAAGCAGGCCTCAGCCTGGTGCTGGAGGCCGGCAGCACCTCCTAGCGGGCAGCAGGGCCGTTCCACCCCTGGGTTCCCTTCCCTCCATCCGGGAGGTGCCCAAACCAGGCCTAGGTCGGCTCCTTGGGGGGTCTTAGGGCTTCCTAGGTGGGGTGGGCCCCTGGGTCTGACCTCCCAGGACCTGAGAACATTATAGCTGGCTGGGACCCTTTTATCTGGCACCAAGAAGGTGGAGAGGTACTGAGAAGGGGTACCCAGGAGCCTTCCTGTCATGGTGGGCAGGAAGACATTTCCGTTACCCTGGGGCTGTTGTCAGAAGCAAAGATCAACACACCTCCTCCAGCAAATGCCAGTTCCTGTCACGGCCTCCCAGGCTGCTGGGGCGTTCCTGCCCCACACCCTTCCCTCGGGTGGTGCTGGCAGGGCCACCCAAGGTTCAGTGGGCAGACCCAAGCCAGCAGAGCCCCAAACTAGGGCCTGCCGGCTTTGAAGACAGCGCTGGGTGCTGTGCTGTGGCCCGGGAGGCTCGGGTGCCCTCAGCCACAGGCCCTGGCTCCCCTCCATCCCCCGAAAGCCCTGCACCTGTGCN
|
pathogenic
| 320,248 |
Variant at chromosome position 44910314, chromosome 21, gene ITGB2 (integrin subunit beta 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
pathogenic; ['ITGB2-related_disorder', 'Leukocyte_adhesion_deficiency_1']
|
CTCCACCCCCTCCCCTTCTCTAGTTTATAAGACAGGAGAAAAGAGAGAAAGCAAAAAGTTGGAAAGAAACAGAAGTAAGATAAATAGCCAGATGACCTTGGCGCCACCACCCGGCCCTGGTGGTTAAACTAATAATATTATTATTATTATTATTATTAACCCCTGACCAAAACTACTGGTGTTATCTGTAAATTCCAGACATTGTATGAAAAAGCATTGCAAAACTTTCTGTTCTGTCAGCTGATGCATGTAACCCCCAGTCAAGTTCCCCACACTTGCTCTATCTATCACAACCCTTTCATGTGGACCCCTTAGAGTTGTAAGCCCTTAAAAGGGCTAGGAATTTCTTTTTCGGGGAGCTCGGCTCTTAAGACGCAAGTCTGCTGACACTCCTGGCCAAATAAAGCCCTTCCTTCTTTAACCGAGTGTCTGAGGAATTCTGTCTGCGGCTTGTCCGGCTACAACGGTGCTGGAGCCCAGACTCTCAGGGAAAGGAACCCGAGCCGTCAGAAAACCATCTGATTCCAGGCTGGGGCAAGGGACATGGAGATGGGCCTGCAGCATCATGTTGCTCCAGAAAGCAAGAAAGTGCTCAGAACGGTAGAACGGGGATGCATGGACAGGACACGCAGCCAGACCCAGCGGATTTGAGCAACTCGGGGAAGAAAGGACAGCCACAGATCATGCACTACTGAACAAAATAAAACTGTGGGTCACGCTGATGAGAGAGAGGCTGCAGAGAAGGAGAGACCCTTCCTTAGGTTGGCAGCCGTGAGTGGCAGGCGGGGACCAGCACGGCACCAATCTGCAGCCATCGCAGTGATGGCGGCTTCAGGCGGGGACCTCCGCGGATGCTGAGCCTGCGGGTGCGATTTGATGAGGGCAGAACCTCACCAGCCCACAGTGGCTGCGAGGGGATCATGCAGCGGGATGGGGAGGCCGGGGGGATGCCGTCTCAGCAGAGCCGTCCACGCTGACCTCATCAAGACTGGGACGGGGCCACAGCAGTGCCTCTCATGGGCACTTAGGACACCGTCACTGAGGGGCTCCTGCCAAAGCACACCTGAGTCCAGGCAGAGGAAACTCCAGACAAGACCCCCGAGGGTCATGCTACAAAGCTGCTCTCCTGACTTCCTCAGAAACGCCCAAGGACAGGAAAGACAAAGAAAGCTGAGGACTTGTCCAGATTCAAGAAGCCCAAGGAGACGGCTGAGCGTAGGGCGAGCCTGGGTGAGGAGATTCAGAGCGTTAGACGGCTGAGCGCAGTGTGTGAACCTGGGTTAGGAGATTTGGGGCCTGAGATGGCTGAGTGCAGGGTGAGCCTGAGTGAGGAGATTCTGAGCCTGAGACAGCTGAGCACAGGGTGAGCCTGGGTGACAAAATCCACCAGGAAAATATGCTCACGAAGACATCATTGGGACAACCAATAAAATATGCGTAGTGTGTAGGTTTGATGATAATGAGATACCAATGCTGAATTTCCTGAATTTGATACATGAATTTATCAAATATAGATATACATGTATCAAAATACATTTACATCAAAGTACATTTCCTCTTGGCCACCTTGTCCCTGCAAAGCCCCTGGATTCTGATAAGGGCTGTGTTTGGTGGGTCCCGTCACTGGCCCCAAACCTGCTGACTCTGCAGGAAAGCGTGCTGGCGATGCGGGGCCAGAAGCGCGCGTGTTTCTGCACTTGCTTACGTAGTTTTGTAAGTGAAAACCTTGTTCTTAAGAAAGACCTCCCTTGAAGTACTAAGAGACAAAGGGCTCCATGTCTACAACCTACTCGGAAATGGCTGAGAAAAAATACAAGTGTGTGTTCTGTGTGTGTTTCCAAACAGACCACACATCAGAACCTCAGGGGCCCCTTGAGGGGAGGGTGAGGCCAGGGTCTGGGGACCCCCTCAAAAAGAAAATGGAGTTGTTGGTCCTCTGGGTGCCACTGGCTTCAGGGGCAGGAAAGGGCCCTCACCCAGGAGCTGGGCAGGTGGGGAGGGGTCCAGGAGGCACTTACCAGCTTCTGGCACCAGGTGCAGCCGGGCCCCGACTCGATGCATTCCCGGCAGCTGCTGACCTTGAACTTCGTGCACTCCTGAGAGAGGACTGAGGGACGAGGCCGGCTGGTGAGTGGGTGCTCTGGGCCGCCCTGCCCACACCCAAGGGGGAGTAGAGCAGGAAGGTCAGAGGAGGCCCAAAAAGACAGGGAGGCAGCCTCCAGGAGGAGACCCCGCATTCGCCACCACCCCCAGGTGCAAAGAGGGGCCCTCGGGAAACAGCACAGCTACAGCCTCCTGGCACGTGCGGAGACGAGGCCTGAGTCCCCGACCTACCCCCAGTGGCAAGGTCCTTCCCCAGCCTCCCGGGAACTTCTGTCTATGGGAAAGTGAGGGCAGGCCCTGTTCTCCCTGATTGGAATGTCACGCGTGGAGTCCCCTCCGTGGAACACAGAACTCACCGCACCCGAGGGAGAGCAGCCCCACCAGGGCGAGCAGTGGGGGGCGCAGGCCCAGCATGTCCTGTGGAGGGAAGGGGTCTTGGTGACGGTCTCAGGCCCAACCCCTGGGGCTGACCACCCATGAAGCTCCCCTCCAGCTGGCCTGGGACAAGGAGCTGGGGCCCTGTCCCTGCTGCAGGGGGTGGGTTAGGGTCAGGCCAGCACAGCTGCACTGGGCCCAGCTGCCAACAGCCAGGGAGGGAGGGATCCCGGGCTCAGCAGTGCGGGCAGCACACCTGCTCAGCCAGGCACCCAGGACAGCTGCAGCGGGCCCCTGCAGAGGCACACAACACAGGCACACACACACATGCAGACGTGTACACACACCACACATGCACGTGTACGTGCATACAGATGTGTGCCTGACTGCATGTACACACCACGTGCATGCACACACCACACATATACATGCATCACACCACACATATGTACACACAGAGATGTATACACCCCTTACCCACACCATACTCCCCGCAAGACACTACACACCACACACAAATATACACATGCACACGTACACACACATACACACCACACAGACACACACACCACACGCACACACCATACACACGTGCAAATGTACACGCACACAAACACCAGAACCCCACACACCCGGTGTGTGCACTCTGCCCCAGTGTGCCCCAGGTCCTCCGTGAGCAGAGCCTGTGCTTGGAGGAGAGCTGGGCTTGGCCCTGTCTCTCTGTGGCAGAAACATAGCCAGGAAGAGAAAGCTGGCTGGATGCCCGCGGGTGCCAGGCTGTGTGCCAGGAAGAGAAAGCTGGCTTGATGCCCGCGGGTGCCAAGCTGTGTGCTAGGCCTGCCCAGGAGCCCTGCAGTCCCTGCCAGGTGGGAAAAAAAGTCACCTGACTTGCCCAAGCCACCAGTTGCCGGGGTCCTGCCCTTTTGTTTCCAGATACACACCCACCCCGTCCTTAACCCACGCATCCACAGCCAGGGGCGGCTCAGTGGTCACTCACAGGCCCTCGGCCCCAGAGGCAAAATGACGGAAGCAGGCCTCAGCCTGGTGCTGGAGGCCGGCAGCACCTCCTAGCGGGCAGCAGGGCCGTTCCACCCCTGGGTTCCCTTCCCTCCATCCGGGAGGTGCCCAAACCAGGCCTAGGTCGGCTCCTTGGGGGGTCTTAGGGCTTCCTAGGTGGGGTGGGCCCCTGGGTCTGACCTCCCAGGACCTGAGAACATTATAGCTGGCTGGGACCCTTTTATCTGGCACCAAGAAGGTGGAGAGGTACTGAGAAGGGGTACCCAGGAGCCTTCCTGTCATGGTGGGCAGGAAGACATTTCCGTTACCCTGGGGCTGTTGTCAGAAGCAAAGATCAACACACCTCCTCCAGCAAATGCCAGTTCCTGTCACGGCCTCCCAGGCTGCTGGGGCGTTCCTGCCCCACACCCTTCCCTCGGGTGGTGCTGGCAGGGCCACCCAAGGTTCAGTGGGCAGACCCAAGCCAGCAGAGCCCCAAACTAGGGCCTGCCGGCTTTGAAGACAGCGCTGGGTGCTGTGCTGTGGCCCGGGAGGCTCGGGTGCCCTCAGCCACAGGCCCTGGCTCCCCTCCATCCCCCGAAAGCCCTGCACCTGTGCTGGG
|
CTCCACCCCCTCCCCTTCTCTAGTTTATAAGACAGGAGAAAAGAGAGAAAGCAAAAAGTTGGAAAGAAACAGAAGTAAGATAAATAGCCAGATGACCTTGGCGCCACCACCCGGCCCTGGTGGTTAAACTAATAATATTATTATTATTATTATTATTAACCCCTGACCAAAACTACTGGTGTTATCTGTAAATTCCAGACATTGTATGAAAAAGCATTGCAAAACTTTCTGTTCTGTCAGCTGATGCATGTAACCCCCAGTCAAGTTCCCCACACTTGCTCTATCTATCACAACCCTTTCATGTGGACCCCTTAGAGTTGTAAGCCCTTAAAAGGGCTAGGAATTTCTTTTTCGGGGAGCTCGGCTCTTAAGACGCAAGTCTGCTGACACTCCTGGCCAAATAAAGCCCTTCCTTCTTTAACCGAGTGTCTGAGGAATTCTGTCTGCGGCTTGTCCGGCTACAACGGTGCTGGAGCCCAGACTCTCAGGGAAAGGAACCCGAGCCGTCAGAAAACCATCTGATTCCAGGCTGGGGCAAGGGACATGGAGATGGGCCTGCAGCATCATGTTGCTCCAGAAAGCAAGAAAGTGCTCAGAACGGTAGAACGGGGATGCATGGACAGGACACGCAGCCAGACCCAGCGGATTTGAGCAACTCGGGGAAGAAAGGACAGCCACAGATCATGCACTACTGAACAAAATAAAACTGTGGGTCACGCTGATGAGAGAGAGGCTGCAGAGAAGGAGAGACCCTTCCTTAGGTTGGCAGCCGTGAGTGGCAGGCGGGGACCAGCACGGCACCAATCTGCAGCCATCGCAGTGATGGCGGCTTCAGGCGGGGACCTCCGCGGATGCTGAGCCTGCGGGTGCGATTTGATGAGGGCAGAACCTCACCAGCCCACAGTGGCTGCGAGGGGATCATGCAGCGGGATGGGGAGGCCGGGGGGATGCCGTCTCAGCAGAGCCGTCCACGCTGACCTCATCAAGACTGGGACGGGGCCACAGCAGTGCCTCTCATGGGCACTTAGGACACCGTCACTGAGGGGCTCCTGCCAAAGCACACCTGAGTCCAGGCAGAGGAAACTCCAGACAAGACCCCCGAGGGTCATGCTACAAAGCTGCTCTCCTGACTTCCTCAGAAACGCCCAAGGACAGGAAAGACAAAGAAAGCTGAGGACTTGTCCAGATTCAAGAAGCCCAAGGAGACGGCTGAGCGTAGGGCGAGCCTGGGTGAGGAGATTCAGAGCGTTAGACGGCTGAGCGCAGTGTGTGAACCTGGGTTAGGAGATTTGGGGCCTGAGATGGCTGAGTGCAGGGTGAGCCTGAGTGAGGAGATTCTGAGCCTGAGACAGCTGAGCACAGGGTGAGCCTGGGTGACAAAATCCACCAGGAAAATATGCTCACGAAGACATCATTGGGACAACCAATAAAATATGCGTAGTGTGTAGGTTTGATGATAATGAGATACCAATGCTGAATTTCCTGAATTTGATACATGAATTTATCAAATATAGATATACATGTATCAAAATACATTTACATCAAAGTACATTTCCTCTTGGCCACCTTGTCCCTGCAAAGCCCCTGGATTCTGATAAGGGCTGTGTTTGGTGGGTCCCGTCACTGGCCCCAAACCTGCTGACTCTGCAGGAAAGCGTGCTGGCGATGCGGGGCCAGAAGCGCGCGTGTTTCTGCACTTGCTTACGTAGTTTTGTAAGTGAAAACCTTGTTCTTAAGAAAGACCTCCCTTGAAGTACTAAGAGACAAAGGGCTCCATGTCTACAACCTACTCGGAAATGGCTGAGAAAAAATACAAGTGTGTGTTCTGTGTGTGTTTCCAAACAGACCACACATCAGAACCTCAGGGGCCCCTTGAGGGGAGGGTGAGGCCAGGGTCTGGGGACCCCCTCAAAAAGAAAATGGAGTTGTTGGTCCTCTGGGTGCCACTGGCTTCAGGGGCAGGAAAGGGCCCTCACCCAGGAGCTGGGCAGGTGGGGAGGGGTCCAGGAGGCACTTACCAGCTTCTGGCACCAGGTGCAGCCGGGCCCCACTCGATGCATTCCCGGCAGCTGCTGACCTTGAACTTCGTGCACTCCTGAGAGAGGACTGAGGGACGAGGCCGGCTGGTGAGTGGGTGCTCTGGGCCGCCCTGCCCACACCCAAGGGGGAGTAGAGCAGGAAGGTCAGAGGAGGCCCAAAAAGACAGGGAGGCAGCCTCCAGGAGGAGACCCCGCATTCGCCACCACCCCCAGGTGCAAAGAGGGGCCCTCGGGAAACAGCACAGCTACAGCCTCCTGGCACGTGCGGAGACGAGGCCTGAGTCCCCGACCTACCCCCAGTGGCAAGGTCCTTCCCCAGCCTCCCGGGAACTTCTGTCTATGGGAAAGTGAGGGCAGGCCCTGTTCTCCCTGATTGGAATGTCACGCGTGGAGTCCCCTCCGTGGAACACAGAACTCACCGCACCCGAGGGAGAGCAGCCCCACCAGGGCGAGCAGTGGGGGGCGCAGGCCCAGCATGTCCTGTGGAGGGAAGGGGTCTTGGTGACGGTCTCAGGCCCAACCCCTGGGGCTGACCACCCATGAAGCTCCCCTCCAGCTGGCCTGGGACAAGGAGCTGGGGCCCTGTCCCTGCTGCAGGGGGTGGGTTAGGGTCAGGCCAGCACAGCTGCACTGGGCCCAGCTGCCAACAGCCAGGGAGGGAGGGATCCCGGGCTCAGCAGTGCGGGCAGCACACCTGCTCAGCCAGGCACCCAGGACAGCTGCAGCGGGCCCCTGCAGAGGCACACAACACAGGCACACACACACATGCAGACGTGTACACACACCACACATGCACGTGTACGTGCATACAGATGTGTGCCTGACTGCATGTACACACCACGTGCATGCACACACCACACATATACATGCATCACACCACACATATGTACACACAGAGATGTATACACCCCTTACCCACACCATACTCCCCGCAAGACACTACACACCACACACAAATATACACATGCACACGTACACACACATACACACCACACAGACACACACACCACACGCACACACCATACACACGTGCAAATGTACACGCACACAAACACCAGAACCCCACACACCCGGTGTGTGCACTCTGCCCCAGTGTGCCCCAGGTCCTCCGTGAGCAGAGCCTGTGCTTGGAGGAGAGCTGGGCTTGGCCCTGTCTCTCTGTGGCAGAAACATAGCCAGGAAGAGAAAGCTGGCTGGATGCCCGCGGGTGCCAGGCTGTGTGCCAGGAAGAGAAAGCTGGCTTGATGCCCGCGGGTGCCAAGCTGTGTGCTAGGCCTGCCCAGGAGCCCTGCAGTCCCTGCCAGGTGGGAAAAAAAGTCACCTGACTTGCCCAAGCCACCAGTTGCCGGGGTCCTGCCCTTTTGTTTCCAGATACACACCCACCCCGTCCTTAACCCACGCATCCACAGCCAGGGGCGGCTCAGTGGTCACTCACAGGCCCTCGGCCCCAGAGGCAAAATGACGGAAGCAGGCCTCAGCCTGGTGCTGGAGGCCGGCAGCACCTCCTAGCGGGCAGCAGGGCCGTTCCACCCCTGGGTTCCCTTCCCTCCATCCGGGAGGTGCCCAAACCAGGCCTAGGTCGGCTCCTTGGGGGGTCTTAGGGCTTCCTAGGTGGGGTGGGCCCCTGGGTCTGACCTCCCAGGACCTGAGAACATTATAGCTGGCTGGGACCCTTTTATCTGGCACCAAGAAGGTGGAGAGGTACTGAGAAGGGGTACCCAGGAGCCTTCCTGTCATGGTGGGCAGGAAGACATTTCCGTTACCCTGGGGCTGTTGTCAGAAGCAAAGATCAACACACCTCCTCCAGCAAATGCCAGTTCCTGTCACGGCCTCCCAGGCTGCTGGGGCGTTCCTGCCCCACACCCTTCCCTCGGGTGGTGCTGGCAGGGCCACCCAAGGTTCAGTGGGCAGACCCAAGCCAGCAGAGCCCCAAACTAGGGCCTGCCGGCTTTGAAGACAGCGCTGGGTGCTGTGCTGTGGCCCGGGAGGCTCGGGTGCCCTCAGCCACAGGCCCTGGCTCCCCTCCATCCCCCGAAAGCCCTGCACCTGTGCTGGGN
|
pathogenic
| 320,250 |
Gene COL18A1 (collagen type XVIII alpha 1 chain) variant at chromosome 21, position 45473926—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Knobloch_syndrome_1', 'Retinal_dystrophy']
|
CCGAAGTCCCTTAAATATTTACAATGGGCCTGTGGCTTTTGCACTAGCGCCTCCTGCCCCACCCCCGGAGCCAGCGGCCACCACGGGCTCAGAGCTTCTCTGCCCTCTGTAGTCGCCCCCCACCCAGGCACCCTGTAGCCCCGTGCAGGAGGCGTCGGCCCCTCGGGGGCACTCTCAGGAGAGCGCTGTGGCCACCTGTGGGGGGGTCAGGGCCTCACGGGCCTCTCTGGACAGTGCATGTCTGTGTGGGGATCGGGTGTCAGGAATGCCCAGTCCCTCCCCGACACCAAGACCACCCAAGATGCACCCCCCGCCCGGGCTGCCCCAGTGGAGAAGCGCAGTTTTTTTTTTTTGTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATTGCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCAGGCCAGGCTGATTTTTTGTATTATTAGTAGAGACGGGGTTTCCCCATGGTCTCAATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGAAGCGCAGTTTTCTAGAATTCAACCCCAGCTCCTCCCTGGGCCTGACCTGGGGGCTCCTGAATGTGAAGGCTCAGCTGCTGGGCTGCTGCCCCACCCCCACGCAGTAGGTCCTGGTGGACAGTGGACCCTGGACCCCACGGTGCTGCCCCTGGCCGACCTGGGGGCACTGTAGGCAACGCCCTCCCCCGCAGTGTGACGCTGAGAGCCGCTGGTGCGCTCTGTGAGGCTGAGAACCGCTGGTGCGTTTTGTGGGAAACCTGTGGGAAACCCAGGGGGCCCACAGGGTCCACACCCCCCCACGCATGAGCTCACACGCGTGCATACGTGATCTCATGTTTGCACACATGTGTCCATGCAGATGCATGCTCTCACGCACATGTGCCCACACACTCAGCACTCACACCCCGTCCTGCAGGCTCAGCCCCACTCCTGAGCCACCTGCCTGGGCTTTGGGGGCCCAGCCGGCATGGGGAGCCCCAGGCTCCAGCTGGCCTCGCTTGGCTCTGAAATCTAGGCCAGGATGCAGAACCCGCAGTGCGGCCAGTGGAGCCCCTGGTACTGTGCGCAGCCCCCACCTGGCAGCCCCTTTTCCTGTCAAAGCCCCTCCCAGCGTCCTCTCCCCACCAGGCAAGCTACCCGCTTGAGGCTTAGGACGTTGCGCCCTCCTGTGTCCTTGCCCAGCATCCCCGGCCTGCATCTCACCAGGCACCGCCGGCCGCGCCAGGGCCCGAGAGGGCAGGGTCAGGCACCCTGGCACTCAGCCCAGGACTGAAGATGCCAGAGGGAGCGGTGGGTAGGTGGGTGAGTGAGTGAGATTGGGTCCGGACGGAATGGGCGCAGAGATCCAGGAAACTCCCCTACATCTGCGGCGTTTCTGTCCTTGGCTTCTGGGTTTTGTTTTTGATGAAAAGGTGAAGTTCAAAGAAAGCAAAGCCATGGTGCCACCTCGGTTGGTCCGAGTCGGGAGATGAGGCCGCCTGGTGCTTGCGTAAAGCTCCCGGGACTTGGGGTTGGGGGACTTGACCTGCAGCCCCTCGAATCTGCCCGCCCTCCCAGGCCTTGGATCGAGCCACACCTGCTGTGGTTCTAAACCCGTAGCCCTCAGGTGGCCCATCAGCTGCCTCAGATGAGCCAAGTCTGAGGGAGCAGCCTCCGCCCAGCCGGGTGCTTTCCACATGAAAGCGCCCAGGACGCCCCTGGGTCTCACCACTTCTTCCTACCATGAGGCATACCGCACCCCCAGGGAGGCTGCCCGAGACCCCTTCCCTCTCCGAGACTCTCCTGCCCTTTGTGGGCCCCCCGAAATCTGGAGCTCAAGCAGCACCGGGGTTGCCACTGCCACCTCAGGACCGCTGGTGACCCCTTTCTCTGTCTGCATTTAGGGGGTGATCGCTGAGCTGAAGGTGCGCAGGGACCCCCAGGTGAGCCCCATGCACTGCCTGGACGAGGAAGGCGATGACTCAGATGGGGTGAGTGACATCTGGGGCACGGGTGGGGTCTCCCCTCAATCCCTGGCACGCGGAGTTCAGGGCCAAGGTCTATGACAGGAAAAGTCCCAAAATATACCACTTGGGGCACTGGGAAGCTGCGATACCATTTCTGTGCTCTCCTGTAGCACCTCAGAGCCCTTCCTTGCCCTGAACTTTCCCATAAAAACAAATACAAAGCATGATATAAACACCAGAAACCACCCTCCATGGCAGCTGGTGAGACAGAGGATGTGAGGCAGCTCAGCAAAGTGTGTGTGTGTGTCTGTGTCTGTGTGGTGTGTCTCTGTGTCTTGTGTGGTGTGTCTCTGTGGTGTGTCTGTCTTGTGTGTTGTGTGTGGATGTGTGTGTGTCTGTGTGGTGTGTCTGTCTTGTGTGTTGTGTGTGTTGTATGTGTGTCTCTGGTGTGTCTGTCTTGTGTGTCGTGTGTGTCTGTGGTGTGTCTCTGTGTGTAGTGTGTCTCTGTGTGTGGTGTGTCTCTGTGTGTGTGGTGTGTCTCTGTGGTGTGTCTGTCTTGTGTGTTGTGTCTGCATGTCTGCATGGTGCGTGTGTCTCTGTGTCTGTGTCTGTGTGTTGTGTGGCGTGTGTGTTGGTGGGGTGTGTGGAATCACGTGGTACCCAAGGGGAGAATCCCCCAGCCCCAGGTGTGAGGAACAGCAGGGAATTCTCACTCAGGGGCCCAGATCACAACATGCCCCACGTGAACATGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACACCGTGGCTGGACTGTGGGCAGTGTGTGAACATCCATGTTACTTTCATGCTTTTTCTTTATTTTGCCCAATAAGCCCGTTGTTTTTGCCTGGAACATGCCAGAAGACGCCAGATCGTTCACATGGCGGCCATGACAAGGCTGCGCCCTGGGACAGCTTGCTGGGTGCGGGGGGTCGCCGAGGCGCCGCACCCCTCCCCTGGCCTGTCTTGCCCTCAGGGGTCAGTAGCGGTCCCTGAGGATGTTTCTCCTCCGGGTTTTCCTGAAGTTTAAAACATCCAGCCGCCTTGGCGCGTGTTCGGCCCAGCCGGGCGTGCGCTGGGGAAACCTGTGCGGGGAGCATCTGCGGTGCGGCCTCCTCCAGGGCAGGGCTCTGGCCAGAAGAGAGGAGCGCGTTCCCCCTCCCGCCTCCGCATGTCTGACCACCGGCCGAGGCAGGTTCAGAAGCGTCACTGTCCTCGACCCGATTGGACACGACTTACTGAAGCTCAGATGGTGCCTGGGCAGGGAAGGCCAGCGTGCCCACCCCAGCGGCCCCCCGGAGAGCACCAGAGAGGGCTGGACGAGGCGAGAGGGGGCCTGGAGGAGGCGAGAGCAGCGTCCTTTGCTTCCCAGGCCTGCCGGGCTCGGGGCCTGGCCTGGCTGCCATCTCTCCAGCCTTTCCCTTTTCAAACTCCTCAGGCATCCGGAGACTCTGGCAGCGGGCTCGGGGACGCCCGGGAGCTTCTCAGGGAGGAGACGGTGAGTAGCCGGACGGGGCCCAGCCCACGCTGCAGGGTCCCGGGAGAGCCCCTCCCAGCAGTGGGGTGACACATGTGCACACGCAGGTGTGGCTCCAAGAGCTCCCTCTATGCCACGAAGACATATTCCTGGCTGGGGACAGGGATGCTGGGCTGGGCAGACGCTCGGAGCCTGGGCACAGGCCCCGCTCCGGCCCTGCCTGGCCGCCGCGTGTCTCTGGTGAGAGGATATTCCTTTAAAACGAGGTCCTGCCCTGCACACTCCTTGGTCTTCGAGGCAACCTTGGCCTTCCCTTCGCCCCATCCCTCCGTTAGCTCGTGCGTGGCCATCAGGGAATGAACGCGTGTGTGAGCCTGACGACCAGGAGGAGAAGGCGGCGCAGGGAGCGCGCGGAAGGCTTTCCCCAGCTCGGGCCACCTGAGAAAACACAGGAGGGGC
|
CCGAAGTCCCTTAAATATTTACAATGGGCCTGTGGCTTTTGCACTAGCGCCTCCTGCCCCACCCCCGGAGCCAGCGGCCACCACGGGCTCAGAGCTTCTCTGCCCTCTGTAGTCGCCCCCCACCCAGGCACCCTGTAGCCCCGTGCAGGAGGCGTCGGCCCCTCGGGGGCACTCTCAGGAGAGCGCTGTGGCCACCTGTGGGGGGGTCAGGGCCTCACGGGCCTCTCTGGACAGTGCATGTCTGTGTGGGGATCGGGTGTCAGGAATGCCCAGTCCCTCCCCGACACCAAGACCACCCAAGATGCACCCCCCGCCCGGGCTGCCCCAGTGGAGAAGCGCAGTTTTTTTTTTTTGTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATTGCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCAGGCCAGGCTGATTTTTTGTATTATTAGTAGAGACGGGGTTTCCCCATGGTCTCAATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGAAGCGCAGTTTTCTAGAATTCAACCCCAGCTCCTCCCTGGGCCTGACCTGGGGGCTCCTGAATGTGAAGGCTCAGCTGCTGGGCTGCTGCCCCACCCCCACGCAGTAGGTCCTGGTGGACAGTGGACCCTGGACCCCACGGTGCTGCCCCTGGCCGACCTGGGGGCACTGTAGGCAACGCCCTCCCCCGCAGTGTGACGCTGAGAGCCGCTGGTGCGCTCTGTGAGGCTGAGAACCGCTGGTGCGTTTTGTGGGAAACCTGTGGGAAACCCAGGGGGCCCACAGGGTCCACACCCCCCCACGCATGAGCTCACACGCGTGCATACGTGATCTCATGTTTGCACACATGTGTCCATGCAGATGCATGCTCTCACGCACATGTGCCCACACACTCAGCACTCACACCCCGTCCTGCAGGCTCAGCCCCACTCCTGAGCCACCTGCCTGGGCTTTGGGGGCCCAGCCGGCATGGGGAGCCCCAGGCTCCAGCTGGCCTCGCTTGGCTCTGAAATCTAGGCCAGGATGCAGAACCCGCAGTGCGGCCAGTGGAGCCCCTGGTACTGTGCGCAGCCCCCACCTGGCAGCCCCTTTTCCTGTCAAAGCCCCTCCCAGCGTCCTCTCCCCACCAGGCAAGCTACCCGCTTGAGGCTTAGGACGTTGCGCCCTCCTGTGTCCTTGCCCAGCATCCCCGGCCTGCATCTCACCAGGCACCGCCGGCCGCGCCAGGGCCCGAGAGGGCAGGGTCAGGCACCCTGGCACTCAGCCCAGGACTGAAGATGCCAGAGGGAGCGGTGGGTAGGTGGGTGAGTGAGTGAGATTGGGTCCGGACGGAATGGGCGCAGAGATCCAGGAAACTCCCCTACATCTGCGGCGTTTCTGTCCTTGGCTTCTGGGTTTTGTTTTTGATGAAAAGGTGAAGTTCAAAGAAAGCAAAGCCATGGTGCCACCTCGGTTGGTCCGAGTCGGGAGATGAGGCCGCCTGGTGCTTGCGTAAAGCTCCCGGGACTTGGGGTTGGGGGACTTGACCTGCAGCCCCTCGAATCTGCCCGCCCTCCCAGGCCTTGGATCGAGCCACACCTGCTGTGGTTCTAAACCCGTAGCCCTCAGGTGGCCCATCAGCTGCCTCAGATGAGCCAAGTCTGAGGGAGCAGCCTCCGCCCAGCCGGGTGCTTTCCACATGAAAGCGCCCAGGACGCCCCTGGGTCTCACCACTTCTTCCTACCATGAGGCATACCGCACCCCCAGGGAGGCTGCCCGAGACCCCTTCCCTCTCCGAGACTCTCCTGCCCTTTGTGGGCCCCCCGAAATCTGGAGCTCAAGCAGCACCGGGGTTGCCACTGCCACCTCAGGACCGCTGGTGACCCCTTTCTCTGTCTGCATTTAGGGGGTGATCGCTGAGCTGAAGGTGCGCAGGGACCCCCCAGGTGAGCCCCATGCACTGCCTGGACGAGGAAGGCGATGACTCAGATGGGGTGAGTGACATCTGGGGCACGGGTGGGGTCTCCCCTCAATCCCTGGCACGCGGAGTTCAGGGCCAAGGTCTATGACAGGAAAAGTCCCAAAATATACCACTTGGGGCACTGGGAAGCTGCGATACCATTTCTGTGCTCTCCTGTAGCACCTCAGAGCCCTTCCTTGCCCTGAACTTTCCCATAAAAACAAATACAAAGCATGATATAAACACCAGAAACCACCCTCCATGGCAGCTGGTGAGACAGAGGATGTGAGGCAGCTCAGCAAAGTGTGTGTGTGTGTCTGTGTCTGTGTGGTGTGTCTCTGTGTCTTGTGTGGTGTGTCTCTGTGGTGTGTCTGTCTTGTGTGTTGTGTGTGGATGTGTGTGTGTCTGTGTGGTGTGTCTGTCTTGTGTGTTGTGTGTGTTGTATGTGTGTCTCTGGTGTGTCTGTCTTGTGTGTCGTGTGTGTCTGTGGTGTGTCTCTGTGTGTAGTGTGTCTCTGTGTGTGGTGTGTCTCTGTGTGTGTGGTGTGTCTCTGTGGTGTGTCTGTCTTGTGTGTTGTGTCTGCATGTCTGCATGGTGCGTGTGTCTCTGTGTCTGTGTCTGTGTGTTGTGTGGCGTGTGTGTTGGTGGGGTGTGTGGAATCACGTGGTACCCAAGGGGAGAATCCCCCAGCCCCAGGTGTGAGGAACAGCAGGGAATTCTCACTCAGGGGCCCAGATCACAACATGCCCCACGTGAACATGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACACCGTGGCTGGACTGTGGGCAGTGTGTGAACATCCATGTTACTTTCATGCTTTTTCTTTATTTTGCCCAATAAGCCCGTTGTTTTTGCCTGGAACATGCCAGAAGACGCCAGATCGTTCACATGGCGGCCATGACAAGGCTGCGCCCTGGGACAGCTTGCTGGGTGCGGGGGGTCGCCGAGGCGCCGCACCCCTCCCCTGGCCTGTCTTGCCCTCAGGGGTCAGTAGCGGTCCCTGAGGATGTTTCTCCTCCGGGTTTTCCTGAAGTTTAAAACATCCAGCCGCCTTGGCGCGTGTTCGGCCCAGCCGGGCGTGCGCTGGGGAAACCTGTGCGGGGAGCATCTGCGGTGCGGCCTCCTCCAGGGCAGGGCTCTGGCCAGAAGAGAGGAGCGCGTTCCCCCTCCCGCCTCCGCATGTCTGACCACCGGCCGAGGCAGGTTCAGAAGCGTCACTGTCCTCGACCCGATTGGACACGACTTACTGAAGCTCAGATGGTGCCTGGGCAGGGAAGGCCAGCGTGCCCACCCCAGCGGCCCCCCGGAGAGCACCAGAGAGGGCTGGACGAGGCGAGAGGGGGCCTGGAGGAGGCGAGAGCAGCGTCCTTTGCTTCCCAGGCCTGCCGGGCTCGGGGCCTGGCCTGGCTGCCATCTCTCCAGCCTTTCCCTTTTCAAACTCCTCAGGCATCCGGAGACTCTGGCAGCGGGCTCGGGGACGCCCGGGAGCTTCTCAGGGAGGAGACGGTGAGTAGCCGGACGGGGCCCAGCCCACGCTGCAGGGTCCCGGGAGAGCCCCTCCCAGCAGTGGGGTGACACATGTGCACACGCAGGTGTGGCTCCAAGAGCTCCCTCTATGCCACGAAGACATATTCCTGGCTGGGGACAGGGATGCTGGGCTGGGCAGACGCTCGGAGCCTGGGCACAGGCCCCGCTCCGGCCCTGCCTGGCCGCCGCGTGTCTCTGGTGAGAGGATATTCCTTTAAAACGAGGTCCTGCCCTGCACACTCCTTGGTCTTCGAGGCAACCTTGGCCTTCCCTTCGCCCCATCCCTCCGTTAGCTCGTGCGTGGCCATCAGGGAATGAACGCGTGTGTGAGCCTGACGACCAGGAGGAGAAGGCGGCGCAGGGAGCGCGCGGAAGGCTTTCCCCAGCTCGGGCCACCTGAGAAAACACAGGAGGGG
|
pathogenic
| 320,309 |
Chromosome 21, position 45477469, gene COL18A1 (collagen type XVIII alpha 1 chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Hereditary_glaucoma,_primary_closed-angle']
|
TCGGGGCCTGGCCTGGCTGCCATCTCTCCAGCCTTTCCCTTTTCAAACTCCTCAGGCATCCGGAGACTCTGGCAGCGGGCTCGGGGACGCCCGGGAGCTTCTCAGGGAGGAGACGGTGAGTAGCCGGACGGGGCCCAGCCCACGCTGCAGGGTCCCGGGAGAGCCCCTCCCAGCAGTGGGGTGACACATGTGCACACGCAGGTGTGGCTCCAAGAGCTCCCTCTATGCCACGAAGACATATTCCTGGCTGGGGACAGGGATGCTGGGCTGGGCAGACGCTCGGAGCCTGGGCACAGGCCCCGCTCCGGCCCTGCCTGGCCGCCGCGTGTCTCTGGTGAGAGGATATTCCTTTAAAACGAGGTCCTGCCCTGCACACTCCTTGGTCTTCGAGGCAACCTTGGCCTTCCCTTCGCCCCATCCCTCCGTTAGCTCGTGCGTGGCCATCAGGGAATGAACGCGTGTGTGAGCCTGACGACCAGGAGGAGAAGGCGGCGCAGGGAGCGCGCGGAAGGCTTTCCCCAGCTCGGGCCACCTGAGAAAACACAGGAGGGGCGGGGAGTGGGGAGGCCCCAGCCGCGGGACTGAGGCGCGGTGCTGTCCGTGAGAGACGGGTGCGGGAACGTGTTCCCTGCGGGGACCCTCTGCAGATTCACATCAGCTTCCCAGCATGGCCTGTCGGGCGCCGGGAGGCCTCTGTGGTGACGGCAGGCGCGGTCCTGGGTCCTGGGGAGCCGGGGAGCCCACAGGCGGCCACACCCCTGCGGCCCACGGAAGGAAGCCCCTCGCGCACGGCCCTGGAGCACCCTCCTGTTTCAGAGGATTTTTCTTTATCTTTCTTGCGATCTTAAGTATTTCATTTCACAAACCAAGCAAGTCTCCACCGGGCATCTGCCGGCCGAATAACAGGCCACCTCCCCTCTCGTCCTCCAGGGCGCGGCCCTAAAACCCAGGCTCCCCGCGCCACCCCCCGTCACCACGCCACCCTTGGCTGGAGGCAGCAGCACGGAAGATTCCAGAAGTGAAGAAGTCGAGGAGCAGACCACGGTGGCTTCGTTAGGAGGTAAGCTCTTTTCTGGATGTGGTGTGTGTGTGGTGTGGGGTGTGTGTGGTGTGTAACGTGTGTTTGTGTGATGGTGAGGTATGTGTGTGATGTATGGTGTGTGTAGTGTGTGGTGTATATGGTACATGTGTGTGTGATATGGCACGTGTTTGTGTGAAATATATGGCAGGTGTTTGATGTGTGGTGTGTGATGTGCATGTTTGTGACATGTGTGATGTTTATGTGATGTGTATGTAGTGTGTATGGTGCATGCATGTGGGCATGTGTGTGTGCAGTGTGTGGTGTGTGTATTGTGTGTGGTGTGGTGTGTGTGTTGCGTGTAGTGTACGTGTGTGGTGTGCAGTGCATGTTGTGTTGTATGTGATGTGTAGTGTGCGTATTGTGTGTATGTGTGTGATGTGCATGTGTAATGTACATGTGTGTGATGTGTATTATGTGTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGCAGGTGGGGAGATGCCGAGGCCCGGATGGTGGCTCTGGGTACAGGCTCTGGGTGTTCACTGTGCTTCTCTTGCAGGATTTCTGTTGGTTTTCATTTTTATTTTAAGTAAAAGTTAAGAGGGAAAAAGGAAAAGGGACAAAGCATGCTGGGTGATAAGAAGGCATTCTGGGGGGCCAGGGTCTCTTGTAACAAATTCAGGAAGCATCTCCCAGACTTCAGCTGTCATTGGCTTAGATGGCCACACCGGCCTCACTGTTGATTTTAAATTCTGTCTCCCTGTTGCCTTTGCCTGGGAGCTGGAGCTCAGGGGAGTGCGGCCTGAGGCTGGGGATCTGACAGTGTCCAGCCGGGCTCCAGGACTGAAAGCGTTTGGGCTGCCGGGGCCGTCTGGGGTGCCGAGAGCAGAGCTGGGGCCACCCGGGGGGCGTGACCGTGGCCACCTCTGCTTCTCTTCCCAGCTCAGACACTTCCTGGCTCAGATTCTGTCTCCACGTGGGACGGGAGTGTCCGGACCCCTGGGGGCCGCGTGAAAGAGGTAAGGCCACCTCCCTGTGCTCCTGAACCATTCTGAACCAGAGCACCTGTGGCCTTTTGGGCCACTCACTGGTGAGCCCTGATGAAGCCCCTCTGTGCCCGTGCCTCCTTTGTGCCCAGCACTCGGTGCCAGCATGCGTCCACCCTGCGTGTCCACTGTGGGAAGCAGCCCAGCCTGGGACTCTGGAGGGCGCAGCGGGACACGTGGGCAGGGTGTGTGGGGCCCCACCCCAGCCCGAGCCCTGTGTTCTGTTTATTCCCAGGGCGGCCTGAAGGGGCAGAAAGGGGAGCCAGGTGTTCCGGGCCCACCTGGCCGGGCAGGCCCCCCAGGATCCCCATGCCTACCTGGTCCCCCGGGTCTCCCGTGCCCAGTGAGTCCCCTGGGTCCTGCAGGCCCAGCGTTGCAAACTGTCCCCGGACCACAAGGACCCCCAGGGCCTCCGGGGAGGGACGGCACCCCTGGAAGGGACGGCGAGCCGGTGAGTCCTCACGTCCCCCCGAGTCCGGCCCGGTCTGGAGGGTGGGGGCTTGGGTAGGAGGGGGAGAGGCTGCGGCCGACATGGGAGTGAGCTGAGCTGGGATCGGGGCAGGTCAGCAGCCTCCTTAGGCCCACCGTTGCTCGGGGTTGGTGCTGGAAGGTGGTCAGACGTGGGAGGCGGAGCTGCTCAGACACAGCCCTTGTGGGTGTGAGGAGGCTCCTGGCGCGGGTGCGAGGACATCGGGGGAAGGCGTCTGCCGCCTCGTGGGGACTTGGAGCGTGGGGTGCATTTCCATGTAGACACTGTAGGTGGCGCCGGAGGAGTCATTTCCCATCACTAATGGCTTCTCTTGCACACCCAGGGCGACCCCGGTGAAGACGGAAAGCCGGTGAGTCTGCTTTTCTTTCTGACCCCTGTGTTATCTGTGATGTTTGCTTAGACCCCAGGGCTTTGTTGCCAGTGACACTCTTTTTAAACGCGACCCAGTGAGGAGACTGTACAGCAAAACCATTTTGAAAGTGGAATTTTGTAAAGAAAAGATGAGTGTAACTGTTGATGGGAAATAGCAGTTATGCATTTGTGTTGAGACATTTGGGCCACAACTACCATGAAGAAGGAAAGGAAGTGAGAAAAGGCAGAGCTTCCAAACCCTTAGAGGGAAGACGCACAGCAAAGAAAAAGGAAGTCGGGCGGGGCAGGGGGTGGTGCAAGTCGGCGGGGGAGGGAAGCACGGGGCGACCTGAGACTCTGTGAAGTCCGAGCTTCGTCGCAAAACACGCAGTTCAGTCTTTAAAAATCAGCAAACACCGTTTCCAAGCACAGTAATGACGTGATCGACTGCGAATAAAGACCTGGGAACAGCCTGCCCAGCAAATGGTAACACTCGGCAGAAAGTGGGGCCGTCACGAACGCTGGACAGGAGGGTTCAAGTTAAAAACAGTCTAGAAGGTCTGAAAGGACAGGGAGGGCATCTCATGGTGCCCACCGAACGGTCATTACCGACCGCCTGGCACCCCACAGCCAAGCTGCCTGCGATGAGGACCACGGCAGACAAAGGACAGTCGGCTGGGGGGCGGCACGGGGCCCACCCACTGCAACAGGGTACACGCACGCGTGTGAGTGTGGGGTGATGATCCACGGGGCCCACCCACAGGGCACACACACGTGTGTATGTATGTGCATGTGTTTGAGTGTGTGAATGTGTGACTGCGCGTGTGTGTGGGGGGGTGAGGATCCACACGTACACATACCACACATGCACACACAGCACATATCACACACCACACATTACACACCACACGTGGACACATGCACACACATTACACACATGTGTGCACACACCACACATTACACCACACGTGGATACACTTGCATACACACACTACACACACGTGTGTGCACACACACCACAGGTGGACGCATGCACACATGCTACACGCACGTGCACACATCACACGTGGACACATGCACACACACCACACATTACACATACCACACGTGGATACACACATACACATACCACGTGTGCACACATGTGCACACCATGGATTA
|
TCGGGGCCTGGCCTGGCTGCCATCTCTCCAGCCTTTCCCTTTTCAAACTCCTCAGGCATCCGGAGACTCTGGCAGCGGGCTCGGGGACGCCCGGGAGCTTCTCAGGGAGGAGACGGTGAGTAGCCGGACGGGGCCCAGCCCACGCTGCAGGGTCCCGGGAGAGCCCCTCCCAGCAGTGGGGTGACACATGTGCACACGCAGGTGTGGCTCCAAGAGCTCCCTCTATGCCACGAAGACATATTCCTGGCTGGGGACAGGGATGCTGGGCTGGGCAGACGCTCGGAGCCTGGGCACAGGCCCCGCTCCGGCCCTGCCTGGCCGCCGCGTGTCTCTGGTGAGAGGATATTCCTTTAAAACGAGGTCCTGCCCTGCACACTCCTTGGTCTTCGAGGCAACCTTGGCCTTCCCTTCGCCCCATCCCTCCGTTAGCTCGTGCGTGGCCATCAGGGAATGAACGCGTGTGTGAGCCTGACGACCAGGAGGAGAAGGCGGCGCAGGGAGCGCGCGGAAGGCTTTCCCCAGCTCGGGCCACCTGAGAAAACACAGGAGGGGCGGGGAGTGGGGAGGCCCCAGCCGCGGGACTGAGGCGCGGTGCTGTCCGTGAGAGACGGGTGCGGGAACGTGTTCCCTGCGGGGACCCTCTGCAGATTCACATCAGCTTCCCAGCATGGCCTGTCGGGCGCCGGGAGGCCTCTGTGGTGACGGCAGGCGCGGTCCTGGGTCCTGGGGAGCCGGGGAGCCCACAGGCGGCCACACCCCTGCGGCCCACGGAAGGAAGCCCCTCGCGCACGGCCCTGGAGCACCCTCCTGTTTCAGAGGATTTTTCTTTATCTTTCTTGCGATCTTAAGTATTTCATTTCACAAACCAAGCAAGTCTCCACCGGGCATCTGCCGGCCGAATAACAGGCCACCTCCCCTCTCGTCCTCCAGGGCGCGGCCCTAAAACCCAGGCTCCCCGCGCCACCCCCCGTCACCACGCCACCCTTGGCTGGAGGCAGCAGCACGGAAGATTCCAGAAGTGAAGAAGTCGAGGAGCAGACCACGGTGGCTTCGTTAGGAGGTAAGCTCTTTTCTGGATGTGGTGTGTGTGTGGTGTGGGGTGTGTGTGGTGTGTAACGTGTGTTTGTGTGATGGTGAGGTATGTGTGTGATGTATGGTGTGTGTAGTGTGTGGTGTATATGGTACATGTGTGTGTGATATGGCACGTGTTTGTGTGAAATATATGGCAGGTGTTTGATGTGTGGTGTGTGATGTGCATGTTTGTGACATGTGTGATGTTTATGTGATGTGTATGTAGTGTGTATGGTGCATGCATGTGGGCATGTGTGTGTGCAGTGTGTGGTGTGTGTATTGTGTGTGGTGTGGTGTGTGTGTTGCGTGTAGTGTACGTGTGTGGTGTGCAGTGCATGTTGTGTTGTATGTGATGTGTAGTGTGCGTATTGTGTGTATGTGTGTGATGTGCATGTGTAATGTACATGTGTGTGATGTGTATTATGTGTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGCAGGTGGGGAGATGCCGAGGCCCGGATGGTGGCTCTGGGTACAGGCTCTGGGTGTTCACTGTGCTTCTCTTGCAGGATTTCTGTTGGTTTTCATTTTTATTTTAAGTAAAAGTTAAGAGGGAAAAAGGAAAAGGGACAAAGCATGCTGGGTGATAAGAAGGCATTCTGGGGGGCCAGGGTCTCTTGTAACAAATTCAGGAAGCATCTCCCAGACTTCAGCTGTCATTGGCTTAGATGGCCACACCGGCCTCACTGTTGATTTTAAATTCTGTCTCCCTGTTGCCTTTGCCTGGGAGCTGGAGCTCAGGGGAGTGCGGCCTGAGGCTGGGGATCTGACAGTGTCCAGCCGGGCTCCAGGACTGAAAGCGTTTGGGCTGCCGGGGCCGTCTGGGGTGCCGAGAGCAGAGCTGGGGCCACCCGGGGGGCGTGACCGTGGCCACCTCTGCTTCTCTTCCCAGCTCAGACACTTCCTGGCTCAGATTCTGTCTCCACGTGGGACGGGAGTGTCCGGACCCCTGGGGGGCCGCGTGAAAGAGGTAAGGCCACCTCCCTGTGCTCCTGAACCATTCTGAACCAGAGCACCTGTGGCCTTTTGGGCCACTCACTGGTGAGCCCTGATGAAGCCCCTCTGTGCCCGTGCCTCCTTTGTGCCCAGCACTCGGTGCCAGCATGCGTCCACCCTGCGTGTCCACTGTGGGAAGCAGCCCAGCCTGGGACTCTGGAGGGCGCAGCGGGACACGTGGGCAGGGTGTGTGGGGCCCCACCCCAGCCCGAGCCCTGTGTTCTGTTTATTCCCAGGGCGGCCTGAAGGGGCAGAAAGGGGAGCCAGGTGTTCCGGGCCCACCTGGCCGGGCAGGCCCCCCAGGATCCCCATGCCTACCTGGTCCCCCGGGTCTCCCGTGCCCAGTGAGTCCCCTGGGTCCTGCAGGCCCAGCGTTGCAAACTGTCCCCGGACCACAAGGACCCCCAGGGCCTCCGGGGAGGGACGGCACCCCTGGAAGGGACGGCGAGCCGGTGAGTCCTCACGTCCCCCCGAGTCCGGCCCGGTCTGGAGGGTGGGGGCTTGGGTAGGAGGGGGAGAGGCTGCGGCCGACATGGGAGTGAGCTGAGCTGGGATCGGGGCAGGTCAGCAGCCTCCTTAGGCCCACCGTTGCTCGGGGTTGGTGCTGGAAGGTGGTCAGACGTGGGAGGCGGAGCTGCTCAGACACAGCCCTTGTGGGTGTGAGGAGGCTCCTGGCGCGGGTGCGAGGACATCGGGGGAAGGCGTCTGCCGCCTCGTGGGGACTTGGAGCGTGGGGTGCATTTCCATGTAGACACTGTAGGTGGCGCCGGAGGAGTCATTTCCCATCACTAATGGCTTCTCTTGCACACCCAGGGCGACCCCGGTGAAGACGGAAAGCCGGTGAGTCTGCTTTTCTTTCTGACCCCTGTGTTATCTGTGATGTTTGCTTAGACCCCAGGGCTTTGTTGCCAGTGACACTCTTTTTAAACGCGACCCAGTGAGGAGACTGTACAGCAAAACCATTTTGAAAGTGGAATTTTGTAAAGAAAAGATGAGTGTAACTGTTGATGGGAAATAGCAGTTATGCATTTGTGTTGAGACATTTGGGCCACAACTACCATGAAGAAGGAAAGGAAGTGAGAAAAGGCAGAGCTTCCAAACCCTTAGAGGGAAGACGCACAGCAAAGAAAAAGGAAGTCGGGCGGGGCAGGGGGTGGTGCAAGTCGGCGGGGGAGGGAAGCACGGGGCGACCTGAGACTCTGTGAAGTCCGAGCTTCGTCGCAAAACACGCAGTTCAGTCTTTAAAAATCAGCAAACACCGTTTCCAAGCACAGTAATGACGTGATCGACTGCGAATAAAGACCTGGGAACAGCCTGCCCAGCAAATGGTAACACTCGGCAGAAAGTGGGGCCGTCACGAACGCTGGACAGGAGGGTTCAAGTTAAAAACAGTCTAGAAGGTCTGAAAGGACAGGGAGGGCATCTCATGGTGCCCACCGAACGGTCATTACCGACCGCCTGGCACCCCACAGCCAAGCTGCCTGCGATGAGGACCACGGCAGACAAAGGACAGTCGGCTGGGGGGCGGCACGGGGCCCACCCACTGCAACAGGGTACACGCACGCGTGTGAGTGTGGGGTGATGATCCACGGGGCCCACCCACAGGGCACACACACGTGTGTATGTATGTGCATGTGTTTGAGTGTGTGAATGTGTGACTGCGCGTGTGTGTGGGGGGGTGAGGATCCACACGTACACATACCACACATGCACACACAGCACATATCACACACCACACATTACACACCACACGTGGACACATGCACACACATTACACACATGTGTGCACACACCACACATTACACCACACGTGGATACACTTGCATACACACACTACACACACGTGTGTGCACACACACCACAGGTGGACGCATGCACACATGCTACACGCACGTGCACACATCACACGTGGACACATGCACACACACCACACATTACACATACCACACGTGGATACACACATACACATACCACGTGTGCACACATGTGCACACCATGGATT
|
pathogenic
| 320,326 |
Located at chromosome 21 position 45477898, the variant affecting gene COL18A1 (collagen type XVIII alpha 1 chain)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Knobloch_syndrome']
|
CTCGTGCGTGGCCATCAGGGAATGAACGCGTGTGTGAGCCTGACGACCAGGAGGAGAAGGCGGCGCAGGGAGCGCGCGGAAGGCTTTCCCCAGCTCGGGCCACCTGAGAAAACACAGGAGGGGCGGGGAGTGGGGAGGCCCCAGCCGCGGGACTGAGGCGCGGTGCTGTCCGTGAGAGACGGGTGCGGGAACGTGTTCCCTGCGGGGACCCTCTGCAGATTCACATCAGCTTCCCAGCATGGCCTGTCGGGCGCCGGGAGGCCTCTGTGGTGACGGCAGGCGCGGTCCTGGGTCCTGGGGAGCCGGGGAGCCCACAGGCGGCCACACCCCTGCGGCCCACGGAAGGAAGCCCCTCGCGCACGGCCCTGGAGCACCCTCCTGTTTCAGAGGATTTTTCTTTATCTTTCTTGCGATCTTAAGTATTTCATTTCACAAACCAAGCAAGTCTCCACCGGGCATCTGCCGGCCGAATAACAGGCCACCTCCCCTCTCGTCCTCCAGGGCGCGGCCCTAAAACCCAGGCTCCCCGCGCCACCCCCCGTCACCACGCCACCCTTGGCTGGAGGCAGCAGCACGGAAGATTCCAGAAGTGAAGAAGTCGAGGAGCAGACCACGGTGGCTTCGTTAGGAGGTAAGCTCTTTTCTGGATGTGGTGTGTGTGTGGTGTGGGGTGTGTGTGGTGTGTAACGTGTGTTTGTGTGATGGTGAGGTATGTGTGTGATGTATGGTGTGTGTAGTGTGTGGTGTATATGGTACATGTGTGTGTGATATGGCACGTGTTTGTGTGAAATATATGGCAGGTGTTTGATGTGTGGTGTGTGATGTGCATGTTTGTGACATGTGTGATGTTTATGTGATGTGTATGTAGTGTGTATGGTGCATGCATGTGGGCATGTGTGTGTGCAGTGTGTGGTGTGTGTATTGTGTGTGGTGTGGTGTGTGTGTTGCGTGTAGTGTACGTGTGTGGTGTGCAGTGCATGTTGTGTTGTATGTGATGTGTAGTGTGCGTATTGTGTGTATGTGTGTGATGTGCATGTGTAATGTACATGTGTGTGATGTGTATTATGTGTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGCAGGTGGGGAGATGCCGAGGCCCGGATGGTGGCTCTGGGTACAGGCTCTGGGTGTTCACTGTGCTTCTCTTGCAGGATTTCTGTTGGTTTTCATTTTTATTTTAAGTAAAAGTTAAGAGGGAAAAAGGAAAAGGGACAAAGCATGCTGGGTGATAAGAAGGCATTCTGGGGGGCCAGGGTCTCTTGTAACAAATTCAGGAAGCATCTCCCAGACTTCAGCTGTCATTGGCTTAGATGGCCACACCGGCCTCACTGTTGATTTTAAATTCTGTCTCCCTGTTGCCTTTGCCTGGGAGCTGGAGCTCAGGGGAGTGCGGCCTGAGGCTGGGGATCTGACAGTGTCCAGCCGGGCTCCAGGACTGAAAGCGTTTGGGCTGCCGGGGCCGTCTGGGGTGCCGAGAGCAGAGCTGGGGCCACCCGGGGGGCGTGACCGTGGCCACCTCTGCTTCTCTTCCCAGCTCAGACACTTCCTGGCTCAGATTCTGTCTCCACGTGGGACGGGAGTGTCCGGACCCCTGGGGGCCGCGTGAAAGAGGTAAGGCCACCTCCCTGTGCTCCTGAACCATTCTGAACCAGAGCACCTGTGGCCTTTTGGGCCACTCACTGGTGAGCCCTGATGAAGCCCCTCTGTGCCCGTGCCTCCTTTGTGCCCAGCACTCGGTGCCAGCATGCGTCCACCCTGCGTGTCCACTGTGGGAAGCAGCCCAGCCTGGGACTCTGGAGGGCGCAGCGGGACACGTGGGCAGGGTGTGTGGGGCCCCACCCCAGCCCGAGCCCTGTGTTCTGTTTATTCCCAGGGCGGCCTGAAGGGGCAGAAAGGGGAGCCAGGTGTTCCGGGCCCACCTGGCCGGGCAGGCCCCCCAGGATCCCCATGCCTACCTGGTCCCCCGGGTCTCCCGTGCCCAGTGAGTCCCCTGGGTCCTGCAGGCCCAGCGTTGCAAACTGTCCCCGGACCACAAGGACCCCCAGGGCCTCCGGGGAGGGACGGCACCCCTGGAAGGGACGGCGAGCCGGTGAGTCCTCACGTCCCCCCGAGTCCGGCCCGGTCTGGAGGGTGGGGGCTTGGGTAGGAGGGGGAGAGGCTGCGGCCGACATGGGAGTGAGCTGAGCTGGGATCGGGGCAGGTCAGCAGCCTCCTTAGGCCCACCGTTGCTCGGGGTTGGTGCTGGAAGGTGGTCAGACGTGGGAGGCGGAGCTGCTCAGACACAGCCCTTGTGGGTGTGAGGAGGCTCCTGGCGCGGGTGCGAGGACATCGGGGGAAGGCGTCTGCCGCCTCGTGGGGACTTGGAGCGTGGGGTGCATTTCCATGTAGACACTGTAGGTGGCGCCGGAGGAGTCATTTCCCATCACTAATGGCTTCTCTTGCACACCCAGGGCGACCCCGGTGAAGACGGAAAGCCGGTGAGTCTGCTTTTCTTTCTGACCCCTGTGTTATCTGTGATGTTTGCTTAGACCCCAGGGCTTTGTTGCCAGTGACACTCTTTTTAAACGCGACCCAGTGAGGAGACTGTACAGCAAAACCATTTTGAAAGTGGAATTTTGTAAAGAAAAGATGAGTGTAACTGTTGATGGGAAATAGCAGTTATGCATTTGTGTTGAGACATTTGGGCCACAACTACCATGAAGAAGGAAAGGAAGTGAGAAAAGGCAGAGCTTCCAAACCCTTAGAGGGAAGACGCACAGCAAAGAAAAAGGAAGTCGGGCGGGGCAGGGGGTGGTGCAAGTCGGCGGGGGAGGGAAGCACGGGGCGACCTGAGACTCTGTGAAGTCCGAGCTTCGTCGCAAAACACGCAGTTCAGTCTTTAAAAATCAGCAAACACCGTTTCCAAGCACAGTAATGACGTGATCGACTGCGAATAAAGACCTGGGAACAGCCTGCCCAGCAAATGGTAACACTCGGCAGAAAGTGGGGCCGTCACGAACGCTGGACAGGAGGGTTCAAGTTAAAAACAGTCTAGAAGGTCTGAAAGGACAGGGAGGGCATCTCATGGTGCCCACCGAACGGTCATTACCGACCGCCTGGCACCCCACAGCCAAGCTGCCTGCGATGAGGACCACGGCAGACAAAGGACAGTCGGCTGGGGGGCGGCACGGGGCCCACCCACTGCAACAGGGTACACGCACGCGTGTGAGTGTGGGGTGATGATCCACGGGGCCCACCCACAGGGCACACACACGTGTGTATGTATGTGCATGTGTTTGAGTGTGTGAATGTGTGACTGCGCGTGTGTGTGGGGGGGTGAGGATCCACACGTACACATACCACACATGCACACACAGCACATATCACACACCACACATTACACACCACACGTGGACACATGCACACACATTACACACATGTGTGCACACACCACACATTACACCACACGTGGATACACTTGCATACACACACTACACACACGTGTGTGCACACACACCACAGGTGGACGCATGCACACATGCTACACGCACGTGCACACATCACACGTGGACACATGCACACACACCACACATTACACATACCACACGTGGATACACACATACACATACCACGTGTGCACACATGTGCACACCATGGATTATGCACACCATACATGCACACTCACACATCACACATACATATCACACATGTACACACCACACTCCTCACACACACACCATGCATACCACACACACACACACATGTATGTAACACCCAAGCACCAGCTGTTGTGGAGGCCTTCGGGGAACCTGCTGTGACCTCCCGAGGGATGCTGCCCGCAGCTTCCCCCAGGCGTGGCTGGCGAAATGGGCTCAGGCGGGAGACAGTCTGCTGGGCCTGGCGCCCTCGTACTTTCCGGGCCCCAGAGACTCCCCTGAAGGGCTCAGCTCCCGTCCGTCCCCTGCTTGGGGGAGGAGCACTGAGAGTGCTGGGTGCGGCCCATGGTGGTGCCTTCCCTGACCGGGCCCCCGGATGTTGTGTTCCAGGGCGACACCGGGCCACAAGGCTTCCCCGGGACTCCAGGGGACGT
|
CTCGTGCGTGGCCATCAGGGAATGAACGCGTGTGTGAGCCTGACGACCAGGAGGAGAAGGCGGCGCAGGGAGCGCGCGGAAGGCTTTCCCCAGCTCGGGCCACCTGAGAAAACACAGGAGGGGCGGGGAGTGGGGAGGCCCCAGCCGCGGGACTGAGGCGCGGTGCTGTCCGTGAGAGACGGGTGCGGGAACGTGTTCCCTGCGGGGACCCTCTGCAGATTCACATCAGCTTCCCAGCATGGCCTGTCGGGCGCCGGGAGGCCTCTGTGGTGACGGCAGGCGCGGTCCTGGGTCCTGGGGAGCCGGGGAGCCCACAGGCGGCCACACCCCTGCGGCCCACGGAAGGAAGCCCCTCGCGCACGGCCCTGGAGCACCCTCCTGTTTCAGAGGATTTTTCTTTATCTTTCTTGCGATCTTAAGTATTTCATTTCACAAACCAAGCAAGTCTCCACCGGGCATCTGCCGGCCGAATAACAGGCCACCTCCCCTCTCGTCCTCCAGGGCGCGGCCCTAAAACCCAGGCTCCCCGCGCCACCCCCCGTCACCACGCCACCCTTGGCTGGAGGCAGCAGCACGGAAGATTCCAGAAGTGAAGAAGTCGAGGAGCAGACCACGGTGGCTTCGTTAGGAGGTAAGCTCTTTTCTGGATGTGGTGTGTGTGTGGTGTGGGGTGTGTGTGGTGTGTAACGTGTGTTTGTGTGATGGTGAGGTATGTGTGTGATGTATGGTGTGTGTAGTGTGTGGTGTATATGGTACATGTGTGTGTGATATGGCACGTGTTTGTGTGAAATATATGGCAGGTGTTTGATGTGTGGTGTGTGATGTGCATGTTTGTGACATGTGTGATGTTTATGTGATGTGTATGTAGTGTGTATGGTGCATGCATGTGGGCATGTGTGTGTGCAGTGTGTGGTGTGTGTATTGTGTGTGGTGTGGTGTGTGTGTTGCGTGTAGTGTACGTGTGTGGTGTGCAGTGCATGTTGTGTTGTATGTGATGTGTAGTGTGCGTATTGTGTGTATGTGTGTGATGTGCATGTGTAATGTACATGTGTGTGATGTGTATTATGTGTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGCAGGTGGGGAGATGCCGAGGCCCGGATGGTGGCTCTGGGTACAGGCTCTGGGTGTTCACTGTGCTTCTCTTGCAGGATTTCTGTTGGTTTTCATTTTTATTTTAAGTAAAAGTTAAGAGGGAAAAAGGAAAAGGGACAAAGCATGCTGGGTGATAAGAAGGCATTCTGGGGGGCCAGGGTCTCTTGTAACAAATTCAGGAAGCATCTCCCAGACTTCAGCTGTCATTGGCTTAGATGGCCACACCGGCCTCACTGTTGATTTTAAATTCTGTCTCCCTGTTGCCTTTGCCTGGGAGCTGGAGCTCAGGGGAGTGCGGCCTGAGGCTGGGGATCTGACAGTGTCCAGCCGGGCTCCAGGACTGAAAGCGTTTGGGCTGCCGGGGCCGTCTGGGGTGCCGAGAGCAGAGCTGGGGCCACCCGGGGGGCGTGACCGTGGCCACCTCTGCTTCTCTTCCCAGCTCAGACACTTCCTGGCTCAGATTCTGTCTCCACGTGGGACGGGAGTGTCCGGACCCCTGGGGGCCGCGTGAAAGAGGTAAGGCCACCTCCCTGTGCTCCTGAACCATTCTGAACCAGAGCACCTGTGGCCTTTTGGGCCACTCACTGGTGAGCCCTGATGAAGCCCCTCTGTGCCCGTGCCTCCTTTGTGCCCAGCACTCGGTGCCAGCATGCGTCCACCCTGCGTGTCCACTGTGGGAAGCAGCCCAGCCTGGGACTCTGGAGGGCGCAGCGGGACACGTGGGCAGGGTGTGTGGGGCCCCACCCCAGCCCGAGCCCTGTGTTCTGTTTATTCCCAGGGCGGCCTGAAGGGGCAGAAAGGGGAGCCAGGTGTTCCGGGCCCACCTGGCCGGGCAGGCCCCCCAGGATCCCCATGCCTACCTGGTCCCCCGGGTCTCCCGTGCCCAGTGAGTCCCCTGGGTCCTGCAGGCCCAGCGTTGCAAACTGTCCCGGACCACAAGGACCCCCAGGGCCTCCGGGGAGGGACGGCACCCCTGGAAGGGACGGCGAGCCGGTGAGTCCTCACGTCCCCCCGAGTCCGGCCCGGTCTGGAGGGTGGGGGCTTGGGTAGGAGGGGGAGAGGCTGCGGCCGACATGGGAGTGAGCTGAGCTGGGATCGGGGCAGGTCAGCAGCCTCCTTAGGCCCACCGTTGCTCGGGGTTGGTGCTGGAAGGTGGTCAGACGTGGGAGGCGGAGCTGCTCAGACACAGCCCTTGTGGGTGTGAGGAGGCTCCTGGCGCGGGTGCGAGGACATCGGGGGAAGGCGTCTGCCGCCTCGTGGGGACTTGGAGCGTGGGGTGCATTTCCATGTAGACACTGTAGGTGGCGCCGGAGGAGTCATTTCCCATCACTAATGGCTTCTCTTGCACACCCAGGGCGACCCCGGTGAAGACGGAAAGCCGGTGAGTCTGCTTTTCTTTCTGACCCCTGTGTTATCTGTGATGTTTGCTTAGACCCCAGGGCTTTGTTGCCAGTGACACTCTTTTTAAACGCGACCCAGTGAGGAGACTGTACAGCAAAACCATTTTGAAAGTGGAATTTTGTAAAGAAAAGATGAGTGTAACTGTTGATGGGAAATAGCAGTTATGCATTTGTGTTGAGACATTTGGGCCACAACTACCATGAAGAAGGAAAGGAAGTGAGAAAAGGCAGAGCTTCCAAACCCTTAGAGGGAAGACGCACAGCAAAGAAAAAGGAAGTCGGGCGGGGCAGGGGGTGGTGCAAGTCGGCGGGGGAGGGAAGCACGGGGCGACCTGAGACTCTGTGAAGTCCGAGCTTCGTCGCAAAACACGCAGTTCAGTCTTTAAAAATCAGCAAACACCGTTTCCAAGCACAGTAATGACGTGATCGACTGCGAATAAAGACCTGGGAACAGCCTGCCCAGCAAATGGTAACACTCGGCAGAAAGTGGGGCCGTCACGAACGCTGGACAGGAGGGTTCAAGTTAAAAACAGTCTAGAAGGTCTGAAAGGACAGGGAGGGCATCTCATGGTGCCCACCGAACGGTCATTACCGACCGCCTGGCACCCCACAGCCAAGCTGCCTGCGATGAGGACCACGGCAGACAAAGGACAGTCGGCTGGGGGGCGGCACGGGGCCCACCCACTGCAACAGGGTACACGCACGCGTGTGAGTGTGGGGTGATGATCCACGGGGCCCACCCACAGGGCACACACACGTGTGTATGTATGTGCATGTGTTTGAGTGTGTGAATGTGTGACTGCGCGTGTGTGTGGGGGGGTGAGGATCCACACGTACACATACCACACATGCACACACAGCACATATCACACACCACACATTACACACCACACGTGGACACATGCACACACATTACACACATGTGTGCACACACCACACATTACACCACACGTGGATACACTTGCATACACACACTACACACACGTGTGTGCACACACACCACAGGTGGACGCATGCACACATGCTACACGCACGTGCACACATCACACGTGGACACATGCACACACACCACACATTACACATACCACACGTGGATACACACATACACATACCACGTGTGCACACATGTGCACACCATGGATTATGCACACCATACATGCACACTCACACATCACACATACATATCACACATGTACACACCACACTCCTCACACACACACCATGCATACCACACACACACACACATGTATGTAACACCCAAGCACCAGCTGTTGTGGAGGCCTTCGGGGAACCTGCTGTGACCTCCCGAGGGATGCTGCCCGCAGCTTCCCCCAGGCGTGGCTGGCGAAATGGGCTCAGGCGGGAGACAGTCTGCTGGGCCTGGCGCCCTCGTACTTTCCGGGCCCCAGAGACTCCCCTGAAGGGCTCAGCTCCCGTCCGTCCCCTGCTTGGGGGAGGAGCACTGAGAGTGCTGGGTGCGGCCCATGGTGGTGCCTTCCCTGACCGGGCCCCCGGATGTTGTGTTCCAGGGCGACACCGGGCCACAAGGCTTCCCCGGGACTCCAGGGGACGTN
|
pathogenic
| 320,329 |
Subsets and Splits
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