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
|
|---|---|---|---|---|---|
Chromosome 19, position 54122500, gene PRPF31: benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Retinal_dystrophy']
|
CGCTGCCTGAGTCTTAAGGACTTAAAGAGCCATTTGAGCATCAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCCAGAATGCAGTGGCACGATCCCAGCTCACTGCAGCCTTGACCTTGTGGGCTCAGGCGTTCCTGCCTCAGCCTCCCAGGCAGCTGGGACCACAGGTGTACACCACCATGCCTGGCTAATTTTTTTTCTTTAATTATGTGTAGAGATGGGGTCTCCCTATGTCGCCCAGGTTGCTCTCCAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGACCTCTTATTACTAAAGCACAAAGAAGCGTTTTCCAGAAACAGACGTGGGGTAAGGGATGCTCTGGGGAGAGGGAGCAGCACATGCAGAGGCCAGGAGGGGTCTGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGTGGTCAAGGCAGATGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACAAACAAAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTATACTCTAGCCTGGGCAACCAGAGCGAAATTATGTCTCAAAAAAAAAAAAAAAAGGCTAGGAGGAGTGGGTGTCTGGGGCACTGTGATCACTCCTTTATGGCTGGAGTGGAATAAAATGAGGTGTGGTGAGAGGATGGGGCGGGAAGGGCGGGAGGCCAGACTGCAGAGCTGCTGAGTCAGCAAACAGGAACGGGGGAACTCCCTGTGTGCCAGGTGCTGTCCTGGGTACTCGGCTGTGGGTACAGCCAACGCAGGCACAGCACTGGTCCCTGCAGAGCTTCCGGAGTTGGGGAGGCCCTGAATGTCAGTCTGAGGACTCGGTCATTAGCCTTGGGGCTGTGGGGAGCCGTAGGAGGTTTCACACGGTCAGTTCTGGGGTAGATGGGGTCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACAT
|
CGCTGCCTGAGTCTTAAGGACTTAAAGAGCCATTTGAGCATCAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCCAGAATGCAGTGGCACGATCCCAGCTCACTGCAGCCTTGACCTTGTGGGCTCAGGCGTTCCTGCCTCAGCCTCCCAGGCAGCTGGGACCACAGGTGTACACCACCATGCCTGGCTAATTTTTTTTCTTTAATTATGTGTAGAGATGGGGTCTCCCTATGTCGCCCAGGTTGCTCTCCAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGACCTCTTATTACTAAAGCACAAAGAAGCGTTTTCCAGAAACAGACGTGGGGTAAGGGATGCTCTGGGGAGAGGGAGCAGCACATGCAGAGGCCAGGAGGGGTCTGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGTGGTCAAGGCAGATGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACAAACAAAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTATACTCTAGCCTGGGCAACCAGAGCGAAATTATGTCTCAAAAAAAAAAAAAAAAGGCTAGGAGGAGTGGGTGTCTGGGGCACTGTGATCACTCCTTTATGGCTGGAGTGGAATAAAATGAGGTGTGGTGAGAGGATGGGGCGGGAAGGGCGGGAGGCCAGACTGCAGAGCTGCTGAGTCAGCAAACAGGAACGGGGGAACTCCCTGTGTGCCAGGTGCTGTCCTGGGTACTCGGCTGTGGGTACAGCCAACGCAGGCACAGCACTGGTCCCTGCAGAGCTTCCGGAGTTGGGGAGGCCCTGAATGTCAGTCTGAGGACTCGGTCATTAGCCTTGGGGCTGTGGGGAGCCGTAGGAGGTTTCACACGGTCAGTTCTGGGGTAGATGGGGTCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATNNNN
|
pathogenic
| 309,819 |
Does the genetic variant at chromosome 19, position 54122530, impacting gene PRPF31, appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic
|
CATTTGAGCATCAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCCAGAATGCAGTGGCACGATCCCAGCTCACTGCAGCCTTGACCTTGTGGGCTCAGGCGTTCCTGCCTCAGCCTCCCAGGCAGCTGGGACCACAGGTGTACACCACCATGCCTGGCTAATTTTTTTTCTTTAATTATGTGTAGAGATGGGGTCTCCCTATGTCGCCCAGGTTGCTCTCCAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGACCTCTTATTACTAAAGCACAAAGAAGCGTTTTCCAGAAACAGACGTGGGGTAAGGGATGCTCTGGGGAGAGGGAGCAGCACATGCAGAGGCCAGGAGGGGTCTGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGTGGTCAAGGCAGATGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACAAACAAAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTATACTCTAGCCTGGGCAACCAGAGCGAAATTATGTCTCAAAAAAAAAAAAAAAAGGCTAGGAGGAGTGGGTGTCTGGGGCACTGTGATCACTCCTTTATGGCTGGAGTGGAATAAAATGAGGTGTGGTGAGAGGATGGGGCGGGAAGGGCGGGAGGCCAGACTGCAGAGCTGCTGAGTCAGCAAACAGGAACGGGGGAACTCCCTGTGTGCCAGGTGCTGTCCTGGGTACTCGGCTGTGGGTACAGCCAACGCAGGCACAGCACTGGTCCCTGCAGAGCTTCCGGAGTTGGGGAGGCCCTGAATGTCAGTCTGAGGACTCGGTCATTAGCCTTGGGGCTGTGGGGAGCCGTAGGAGGTTTCACACGGTCAGTTCTGGGGTAGATGGGGTCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCT
|
CATTTGAGCATCAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCCAGAATGCAGTGGCACGATCCCAGCTCACTGCAGCCTTGACCTTGTGGGCTCAGGCGTTCCTGCCTCAGCCTCCCAGGCAGCTGGGACCACAGGTGTACACCACCATGCCTGGCTAATTTTTTTTCTTTAATTATGTGTAGAGATGGGGTCTCCCTATGTCGCCCAGGTTGCTCTCCAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGACCTCTTATTACTAAAGCACAAAGAAGCGTTTTCCAGAAACAGACGTGGGGTAAGGGATGCTCTGGGGAGAGGGAGCAGCACATGCAGAGGCCAGGAGGGGTCTGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGTGGTCAAGGCAGATGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACAAACAAAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTATACTCTAGCCTGGGCAACCAGAGCGAAATTATGTCTCAAAAAAAAAAAAAAAAGGCTAGGAGGAGTGGGTGTCTGGGGCACTGTGATCACTCCTTTATGGCTGGAGTGGAATAAAATGAGGTGTGGTGAGAGGATGGGGCGGGAAGGGCGGGAGGCCAGACTGCAGAGCTGCTGAGTCAGCAAACAGGAACGGGGGAACTCCCTGTGTGCCAGGTGCTGTCCTGGGTACTCGGCTGTGGGTACAGCCAACGCAGGCACAGCACTGGTCCCTGCAGAGCTTCCGGAGTTGGGGAGGCCCTGAATGTCAGTCTGAGGACTCGGTCATTAGCCTTGGGGCTGTGGGGAGCCGTAGGAGGTTTCACACGGTCAGTTCTGGGGTAGATGGGGTCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTNN
|
pathogenic
| 309,820 |
Is the genetic mutation found on chromosome 19 at position 54122541, within the gene PRPF31, considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Retinitis_pigmentosa']
|
CAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCCAGAATGCAGTGGCACGATCCCAGCTCACTGCAGCCTTGACCTTGTGGGCTCAGGCGTTCCTGCCTCAGCCTCCCAGGCAGCTGGGACCACAGGTGTACACCACCATGCCTGGCTAATTTTTTTTCTTTAATTATGTGTAGAGATGGGGTCTCCCTATGTCGCCCAGGTTGCTCTCCAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGACCTCTTATTACTAAAGCACAAAGAAGCGTTTTCCAGAAACAGACGTGGGGTAAGGGATGCTCTGGGGAGAGGGAGCAGCACATGCAGAGGCCAGGAGGGGTCTGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGTGGTCAAGGCAGATGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACAAACAAAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTATACTCTAGCCTGGGCAACCAGAGCGAAATTATGTCTCAAAAAAAAAAAAAAAAGGCTAGGAGGAGTGGGTGTCTGGGGCACTGTGATCACTCCTTTATGGCTGGAGTGGAATAAAATGAGGTGTGGTGAGAGGATGGGGCGGGAAGGGCGGGAGGCCAGACTGCAGAGCTGCTGAGTCAGCAAACAGGAACGGGGGAACTCCCTGTGTGCCAGGTGCTGTCCTGGGTACTCGGCTGTGGGTACAGCCAACGCAGGCACAGCACTGGTCCCTGCAGAGCTTCCGGAGTTGGGGAGGCCCTGAATGTCAGTCTGAGGACTCGGTCATTAGCCTTGGGGCTGTGGGGAGCCGTAGGAGGTTTCACACGGTCAGTTCTGGGGTAGATGGGGTCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCT
|
CAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCCAGAATGCAGTGGCACGATCCCAGCTCACTGCAGCCTTGACCTTGTGGGCTCAGGCGTTCCTGCCTCAGCCTCCCAGGCAGCTGGGACCACAGGTGTACACCACCATGCCTGGCTAATTTTTTTTCTTTAATTATGTGTAGAGATGGGGTCTCCCTATGTCGCCCAGGTTGCTCTCCAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGACCTCTTATTACTAAAGCACAAAGAAGCGTTTTCCAGAAACAGACGTGGGGTAAGGGATGCTCTGGGGAGAGGGAGCAGCACATGCAGAGGCCAGGAGGGGTCTGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGTGGTCAAGGCAGATGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACAAACAAAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTATACTCTAGCCTGGGCAACCAGAGCGAAATTATGTCTCAAAAAAAAAAAAAAAAGGCTAGGAGGAGTGGGTGTCTGGGGCACTGTGATCACTCCTTTATGGCTGGAGTGGAATAAAATGAGGTGTGGTGAGAGGATGGGGCGGGAAGGGCGGGAGGCCAGACTGCAGAGCTGCTGAGTCAGCAAACAGGAACGGGGGAACTCCCTGTGTGCCAGGTGCTGTCCTGGGTACTCGGCTGTGGGTACAGCCAACGCAGGCACAGCACTGGTCCCTGCAGAGCTTCCGGAGTTGGGGAGGCCCTGAATGTCAGTCTGAGGACTCGGTCATTAGCCTTGGGGCTGTGGGGAGCCGTAGGAGGTTTCACACGGTCAGTTCTGGGGTAGATGGGGTCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTNNNNN
|
pathogenic
| 309,821 |
Variant at chromosome 19, position 54123702, gene PRPF31 (pre-mRNA processing factor 31): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_11']
|
TCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAA
|
TCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 309,831 |
Does the chromosome 19 mutation at position 54123800 within gene PRPF31 (pre-mRNA processing factor 31) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Retinitis_pigmentosa']
|
CCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTG
|
CCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTGNN
|
pathogenic
| 309,835 |
Variant at chromosome 19, position 54123856, gene PRPF31 (pre-mRNA processing factor 31): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Retinal_dystrophy']
|
GAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTGCCTCACTGCACCCCTGCCATCGCCACCGCCTCACAGCCCTGGGCATATGGGTTAAA
|
GAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTGCCTCACTGCACCCCTGCCATCGCCACCGCCTCACAGCCCTGGGCATATGGGTTAAAN
|
pathogenic
| 309,836 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 54124556, gene PRPF31 (pre-mRNA processing factor 31): what disease(s) if pathogenic?
|
pathogenic
|
AAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTGCCTCACTGCACCCCTGCCATCGCCACCGCCTCACAGCCCTGGGCATATGGGTTAAACCTGCCCCAGGGAGCCTGATGTCTTGTCACCCAGGCCTCTGCCTCTTCATTTGGCCATCTCACATCGGTCCAGGCACAGGCCGTAGACACCACAGGCCTGTAAGGGAGGCCAGGGCTGGCCATCGCTTCACTGTGGCTGACAGCTGGGCTCTGTTTGCAGTTTGGATTGGAACCCTGGCTCCATCACCTGCTGGCTGTCTCCCTGGCCACATGACTTGAAGCCTTGGTTTCCACATCTGAAAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGA
|
AAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTGCCTCACTGCACCCCTGCCATCGCCACCGCCTCACAGCCCTGGGCATATGGGTTAAACCTGCCCCAGGGAGCCTGATGTCTTGTCACCCAGGCCTCTGCCTCTTCATTTGGCCATCTCACATCGGTCCAGGCACAGGCCGTAGACACCACAGGCCTGTAAGGGAGGCCAGGGCTGGCCATCGCTTCACTGTGGCTGACAGCTGGGCTCTGTTTGCAGTTTGGATTGGAACCCTGGCTCCATCACCTGCTGGCTGTCTCCCTGGCCACATGACTTGAAGCCTTGGTTTCCACATCTGAAAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGANNNNNNNNNN
|
pathogenic
| 309,840 |
Is the genetic mutation found on chromosome 19 at position 54126537, within the gene PRPF31 (pre-mRNA processing factor 31), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Retinitis_pigmentosa_11']
|
CCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTGCCTCACTGCACCCCTGCCATCGCCACCGCCTCACAGCCCTGGGCATATGGGTTAAACCTGCCCCAGGGAGCCTGATGTCTTGTCACCCAGGCCTCTGCCTCTTCATTTGGCCATCTCACATCGGTCCAGGCACAGGCCGTAGACACCACAGGCCTGTAAGGGAGGCCAGGGCTGGCCATCGCTTCACTGTGGCTGACAGCTGGGCTCTGTTTGCAGTTTGGATTGGAACCCTGGCTCCATCACCTGCTGGCTGTCTCCCTGGCCACATGACTTGAAGCCTTGGTTTCCACATCTGAAAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCT
|
CCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTGCCTCACTGCACCCCTGCCATCGCCACCGCCTCACAGCCCTGGGCATATGGGTTAAACCTGCCCCAGGGAGCCTGATGTCTTGTCACCCAGGCCTCTGCCTCTTCATTTGGCCATCTCACATCGGTCCAGGCACAGGCCGTAGACACCACAGGCCTGTAAGGGAGGCCAGGGCTGGCCATCGCTTCACTGTGGCTGACAGCTGGGCTCTGTTTGCAGTTTGGATTGGAACCCTGGCTCCATCACCTGCTGGCTGTCTCCCTGGCCACATGACTTGAAGCCTTGGTTTCCACATCTGAAAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTNNNNNNNNNNNNNN
|
pathogenic
| 309,845 |
Does the variant on chromosome 19 at location 54126574 affecting gene PRPF31 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Retinitis_pigmentosa_11']
|
CCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTGCCTCACTGCACCCCTGCCATCGCCACCGCCTCACAGCCCTGGGCATATGGGTTAAACCTGCCCCAGGGAGCCTGATGTCTTGTCACCCAGGCCTCTGCCTCTTCATTTGGCCATCTCACATCGGTCCAGGCACAGGCCGTAGACACCACAGGCCTGTAAGGGAGGCCAGGGCTGGCCATCGCTTCACTGTGGCTGACAGCTGGGCTCTGTTTGCAGTTTGGATTGGAACCCTGGCTCCATCACCTGCTGGCTGTCTCCCTGGCCACATGACTTGAAGCCTTGGTTTCCACATCTGAAAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTC
|
CCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTGCCTCACTGCACCCCTGCCATCGCCACCGCCTCACAGCCCTGGGCATATGGGTTAAACCTGCCCCAGGGAGCCTGATGTCTTGTCACCCAGGCCTCTGCCTCTTCATTTGGCCATCTCACATCGGTCCAGGCACAGGCCGTAGACACCACAGGCCTGTAAGGGAGGCCAGGGCTGGCCATCGCTTCACTGTGGCTGACAGCTGGGCTCTGTTTGCAGTTTGGATTGGAACCCTGGCTCCATCACCTGCTGGCTGTCTCCCTGGCCACATGACTTGAAGCCTTGGTTTCCACATCTGAAAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCN
|
pathogenic
| 309,847 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 54128074, gene PRPF31 (pre-mRNA processing factor 31): what disease(s) if pathogenic?
|
pathogenic; ['Retinitis_pigmentosa']
|
TCGCTTCACTGTGGCTGACAGCTGGGCTCTGTTTGCAGTTTGGATTGGAACCCTGGCTCCATCACCTGCTGGCTGTCTCCCTGGCCACATGACTTGAAGCCTTGGTTTCCACATCTGAAAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGG
|
TCGCTTCACTGTGGCTGACAGCTGGGCTCTGTTTGCAGTTTGGATTGGAACCCTGGCTCCATCACCTGCTGGCTGTCTCCCTGGCCACATGACTTGAAGCCTTGGTTTCCACATCTGAAAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGN
|
pathogenic
| 309,851 |
Chromosome 19, position 54128166, gene PRPF31 (pre-mRNA processing factor 31): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
pathogenic; ['Retinal_dystrophy']
|
CTTGAAGCCTTGGTTTCCACATCTGAAAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAG
|
CTTGAAGCCTTGGTTTCCACATCTGAAAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGN
|
pathogenic
| 309,854 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 54128192, gene PRPF31 (pre-mRNA processing factor 31): what disease(s) if pathogenic?
|
pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa']
|
AAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCTGGGC
|
AAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCTGGGCNNNNNNNNNNNNNNN
|
pathogenic
| 309,857 |
Clinical classification of chromosome 19, position 54128314, gene PRPF31 (pre-mRNA processing factor 31): benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Retinal_dystrophy']
|
ACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCTGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGCCCAGTGTAGTAGAAGGCAGAAATGCCAGGCCGGGCGCGGTGGCTC
|
ACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGTGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCTGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGCCCAGTGTAGTAGAAGGCAGAAATGCCAGGCCGGGCGCGGTGGCTCN
|
pathogenic
| 309,862 |
A genetic variant on chromosome 19, position 54128354, affects the gene PRPF31 (pre-mRNA processing factor 31). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Retinal_dystrophy']
|
ACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCTGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGCCCAGTGTAGTAGAAGGCAGAAATGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTG
|
ACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCTGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGCCCAGTGTAGTAGAAGGCAGAAATGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCA
|
pathogenic
| 309,865 |
Gene PRPF31 (pre-mRNA processing factor 31) variant at chromosome position 54129137 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Retinal_dystrophy']
|
CAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCTGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGCCCAGTGTAGTAGAAGGCAGAAATGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACTTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTTCAGCCTGGGCGACAGAGCCAGACTCTGTCTCAAAAAAAAAAAAAAGAAGGCAGAAATGCCAGGGAGGGGAGGAGGTGGAAGGTAGGAGGTGGGACAGGGGAGGCTCTCGTTTCGGAGCAGCCAGGGAGGGCCTCTTTGAGAAGATGAGGCCAGTGGCTGTGCCTTTCCAAGCCTCCCCTCCTCCATCATGAGGTGCTCAGGACTGAAAAGAACGCACAGGAAGCACTTGGCACTGGGCTCACCATTAGAGCCCAATGACTGGGTCCTGTTATTATTTTTAGAGACGGGGGCTCGCTCTGTTGCCTTGAAAATATTTAGGAAGTGCCAGCCAGGTGTTGGCTCCCATTGCTGCCACTATGATCGTCAGTGGTGTTGGTGTGATTTGTGCTAGGACCTCGGGCCAGCCATGTCCCCCAGGGACTCAGTTTCCTTATGCAGAAACTGGGCAGGATTGGCTGTCCTCAAGCATTGGTTGTTTTTAGCACCCCTGAGGAACTTCGTACAAATCCAGGCGCCCTGGTTCCTCCCCACCCTCTCCCTCTAGACCCACTGAGTCAGAATCTCCCAAGACAGGGCAACTCCAGGGACAGG
|
CAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCTGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGCCCAGTGTAGTAGAAGGCAGAAATGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACTTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTTCAGCCTGGGCGACAGAGCCAGACTCTGTCTCAAAAAAAAAAAAAAGAAGGCAGAAATGCCAGGGAGGGGAGGAGGTGGAAGGTAGGAGGTGGGACAGGGGAGGCTCTCGTTTCGGAGCAGCCAGGGAGGGCCTCTTTGAGAAGATGAGGCCAGTGGCTGTGCCTTTCCAAGCCTCCCCTCCTCCATCATGAGGTGCTCAGGACTGAAAAGAACGCACAGGAAGCACTTGGCACTGGGCTCACCATTAGAGCCCAATGACTGGGTCCTGTTATTATTTTTAGAGACGGGGGCTCGCTCTGTTGCCTTGAAAATATTTAGGAAGTGCCAGCCAGGTGTTGGCTCCCATTGCTGCCACTATGATCGTCAGTGGTGTTGGTGTGATTTGTGCTAGGACCTCGGGCCAGCCATGTCCCCCAGGGACTCAGTTTCCTTATGCAGAAACTGGGCAGGATTGGCTGTCCTCAAGCATTGGTTGTTTTTAGCACCCCTGAGGAACTTCGTACAAATCCAGGCGCCCTGGTTCCTCCCCACCCTCTCCCTCTAGACCCACTGAGTCAGAATCTCCCAAGACAGGGCAACTCCAGGGACAGGNN
|
pathogenic
| 309,871 |
A genetic variant at chromosome 19, position 54146018, affecting gene CNOT3 (CCR4-NOT transcription complex subunit 3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Intellectual_developmental_disorder_with_speech_delay,_autism,_and_dysmorphic_facies']
|
CTTTGAGAGCCCCCCTGCCAACTGCACTCTCTACAGCAAATGGAACGGTTCAAAGTTGTGGAACGAGAGACCAAAACCAAAGCTTACAGCAAAGAGGGCCTGGGCCTGGCCCAGAAGGTAGATCCTGCCCAGAAGGAGAAGGAAGAGGTTGGCCAGTGGCTCACGGTGAGTTGGGGTAGAGAAGAGGAGGTGAACTCTGAGGATCCTGAGCCCTGGGTGTAGGCGGAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATGGGGATGGGCATGGGAATGGGCTGGCCAGCAGGAGGCCAGTCATTTATGCTCCTGGGAGTTGGGGCCTGGATTCCTCAGGCGGACAGGGCCAACAGCCGGGATTAGGGATTTGAGAGACAGGATTGGGAGGGCTTAGCAGCTGCACGCGTGGGGCAGGAAGGAGGTCAGACAGAATCTCAGGGTCCCCTGGGTGTCTGGGTAGACCGTGGGGCCTTTGTGAAGAGGAGCGACTTGGGGGAAGGTGAGTGCAGGTTGAGCTTGGGCCACAGAGTAAAAGTGAGACCTGAAGGACACCCATGGCAAGAGGCCTCCTGGCACCCAGAGGGCCCTGGTCCTAGGGAGAGCACAGTGGGTAGAGACAAGGCAGAACATGGAGAAGGCAGAGAACCAGGCCTGAAGGAAGACAGGAGTCTGGGACAAAGCTGGATGTTGGGGTCCCAGGTTCTAAAATCCGGGATTGTGGGGTATGAGTTCAAAGGGATACAAACTGTACAGACTTGCTGAAACCAGAAAGACAGGGAGGGGAGAGCCGGGTCCTCAGGGAAGCTGTGGGTGGGAGAGGGTCAGGAAGTGGAAGATGACAGGGTTGGGTGTCAGACTCTGAGGGGTTTGGGAACCAGGGGCTTTCGGGGAGATGATGGGTCCTTGAACAGAGCAGAGATTTGGAACCAAGGCTAAGATGTTAAATCCTAAAGGGGCCTTGAGGGGAGGGCAGGAGCGAGGCTTAGGAATCTGGGCTCTCTCAGGGATAAATGGGTAGGGTTGGGGGCCTAGTGATGACAGATATCACAATTCTAAACAGCAAGCTCCTCACAAATGGGGGTTATCATTGTTACTGCTGGAGCAGGTCGGAGGGTATCTGTATGCCAGAGGCAGTCACAGTGGTGGGCGGGCTCAGTTGAGAAATCTGGGCTGTCAGGTGAGGTGCAGATGGAGGCCAAGTCGTGGGATGGCACAAGGACCTCTGGGTCTTTTAGAGGTTTCCAAGGACTCCTGGAGCCAGAAAGGTGTGGGGAGAGGAGGGAGCAGTGGGATCCCAAGATGTCAAGGCTAAGATTGGTCCCCACAGGGCTCAGAGGGTGGGTGGACCCCATACTGCCCCACCCCGAAGGGGATGGCGTGGAGGCTTTGGGTCTCCACAGGGGTCAGGGACTGAGGACAGGTTCTGTGGGGGCAGGAGGGGCCAAGCAGGTGCTCTGCAGCCCCTGAGCCTGGCCCTGGGCTCGCCAGCAGAAGCAGGACCGGATTGAGGGCTTGAAGCGGCACATCGAGAAGCACCGCTACCACGTGCGCATGCTAGAGACCATCCTGCGCATGCTGGACAATGACTCCATCCTCGTTGACGCCATCCGCAAGATCAAGGACGACGTTGAGTACTATGTTGACTCATCCCAGGACCCCGACTTCGAGGAGAACGAGTTTCTCTACGATGACCTGGACCTCGAGGACATTCGTGAGGCCCTGGGGCTGATCGTGGCACAGGAAGTGAGGGCCCAGAATGGGCTGTGTGAGCCAGCTAAGCATGCCCTTCTTCTGCCCCCACAGCACAGGCGCTGGTCGCCACCTCCCCCCCCAGCCACAGCCACATGGAGGATGAGATCTTCAACCAGTCCAGCAGCACGCCCACCTCAACCACCTCCAGCTCTCCCATCCCGCCCAGCCCAGCCAACTGTACCACGGTGAGGCCCCACGGGACACTAGTACCTTGTGTTTCCAGCAGGGCAGGACTCGAGGAGACAAATCTGGGTCACTCCAAAGTGGCTATGGGAGCGTAATTGAGGAAACACAGATCTAGGTATCCAGGGTCTAGGCTCTTGGAGCACACGCTAAGGTCCTATATCTGGGTCCCTAAAGGACATAAAGAGCAATAGGGTGCATCCCGCGCCAGTTTAGGTCCTGGATCTGGGAAGTGGGAGGGGCCGGTGCCTGGGCTGCCTGAGGAGGCTGGGTAGCTGGCCACCTTGGGCAGGGATCCAAGGGTTGGCTTCCCTGTGGAGAGCAGGTTCCCAGATCCTTAAGAGGCTGGTGGGTCAGTGCTGGCTCCCAGAAAACAAGAAGACTGGAGAGCCTGAATTGAGATGGTTTCTCCAGGCAGATTAAGGACAGCCATTTGACCAGCTCTGGGGCCGCAATGGCAGTCAATTGGGCCCAGGTCCCCGGGGCATTCAGAGATTGGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTTCCCAAAGGCATCTTGAGGCCTGAGCGCCGGCCACTGTGCTGGGCTGGTGGACACAGGTGGCTCAGAAATCAGTGCTGCCCTGAGGGCAGGTGGGCAGGGCAAGTGGACAGGTGACTGGTGCTGTGGTCAAGGGGGTAGCACACAGGTCACCCTTGGCCTGGCCAGGCAGTCAGGAGATGCTGCTGTGGAGTGCCCTGGGCTTCACAGTCAGGTGAGTTTGCCTGGCAGGGAGAGGTGGCAGCCAGTAACATGGGCAAGTTGTGACAGAAAGTTTGGAAGTGAGGAGAGATGAGTCTGGCCAGGTCTGCAGGGCCAGGGGCCCAACTGTGAGCACAGGGACTGGGACTGTCAGGCTGAGGGGCTCAGGCTTTGTGGACCTGAGTGGCCTCCAGAGTCCAATAAGCCTAGGAAGCGATGGGGCCTTTGCTGTGCTGATAATACACACTGCAAATTTCTGAGAGGAGACGGTGGCGGGCAGTGCTTCTTCAACTCCTTTGACATCTCCCAGGACAGGAGCACGCTTTCGGAAACGCTGCTACAGAACAATGTTAGGCAGGAGCAGCATGGGCCTGAGGCCCCTCTGTGGGCTAACGGGATGGATGGTTCCAAGGGGACACCCTGAGTGGGCATTGAGGAGGCTGGTGTGGAGACTAAGGGGACCCGCAGGTAGTAGTGAGGGCGGGCAACAGGGCCAGGAGGTGATGAGGAGAGACACTGAGGCAGGTACTCCAGGGGCCAGGCTGGGCTCTGCCACCTTCCCAGGCCCCCACTGCCAAGCAGCGATGCCCAGGAGAGAAGTGGGTAGTCAGTCCTGTTGGGCGCTTGGTAAGCGCAAGGTGCCTGTGGGGTGGCTGGAAAGAAGCCCAGGAGGTGGTTAGGCTCAGCAGCCCGAGTGCTGTCCGCAGATTGCCTGCGGTAGGGATACCATGAGCACATTTACCCTCCCACCACTTTCTGGAGTGCTGGTAACTTCCAGCCCTGTGAGTAGCTTCTGTGACCCTTCAGGTGACATTCAGAATTACTATCCAATTTCCAGCTGTTTTTCCTTCTACTCTTGGACATTAGGCGGCTCCAGCTAATCTCATATTGAGAACACTTAAGTGTTTCCCACTAGTCCTCTGGCTTCCAACAGATGGATCTTCTCTGGCTGACAACCTAAGTTGTGTGTCAGATCCCTGTGGGGGTGTCCATGGGGCGGTGTCCAGGCAGGACTTGGGAAGCTGGGCAGGCTGGAAATCAGTGTGAGTGTTTTAAGCATGAAGGTGATTGAAGCCATGAGGGTGAGTAAGGTCACCCAGGTCCCCAAGAGGGCAGGAGCAGGTGGGGGCAGCGAGGCCAGAGAGGAGGCTGCTGGGAC
|
CTTTGAGAGCCCCCCTGCCAACTGCACTCTCTACAGCAAATGGAACGGTTCAAAGTTGTGGAACGAGAGACCAAAACCAAAGCTTACAGCAAAGAGGGCCTGGGCCTGGCCCAGAAGGTAGATCCTGCCCAGAAGGAGAAGGAAGAGGTTGGCCAGTGGCTCACGGTGAGTTGGGGTAGAGAAGAGGAGGTGAACTCTGAGGATCCTGAGCCCTGGGTGTAGGCGGAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATGGGGATGGGCATGGGAATGGGCTGGCCAGCAGGAGGCCAGTCATTTATGCTCCTGGGAGTTGGGGCCTGGATTCCTCAGGCGGACAGGGCCAACAGCCGGGATTAGGGATTTGAGAGACAGGATTGGGAGGGCTTAGCAGCTGCACGCGTGGGGCAGGAAGGAGGTCAGACAGAATCTCAGGGTCCCCTGGGTGTCTGGGTAGACCGTGGGGCCTTTGTGAAGAGGAGCGACTTGGGGGAAGGTGAGTGCAGGTTGAGCTTGGGCCACAGAGTAAAAGTGAGACCTGAAGGACACCCATGGCAAGAGGCCTCCTGGCACCCAGAGGGCCCTGGTCCTAGGGAGAGCACAGTGGGTAGAGACAAGGCAGAACATGGAGAAGGCAGAGAACCAGGCCTGAAGGAAGACAGGAGTCTGGGACAAAGCTGGATGTTGGGGTCCCAGGTTCTAAAATCCGGGATTGTGGGGTATGAGTTCAAAGGGATACAAACTGTACAGACTTGCTGAAACCAGAAAGACAGGGAGGGGAGAGCCGGGTCCTCAGGGAAGCTGTGGGTGGGAGAGGGTCAGGAAGTGGAAGATGACAGGGTTGGGTGTCAGACTCTGAGGGGTTTGGGAACCAGGGGCTTTCGGGGAGATGATGGGTCCTTGAACAGAGCAGAGATTTGGAACCAAGGCTAAGATGTTAAATCCTAAAGGGGCCTTGAGGGGAGGGCAGGAGCGAGGCTTAGGAATCTGGGCTCTCTCAGGGATAAATGGGTAGGGTTGGGGGCCTAGTGATGACAGATATCACAATTCTAAACAGCAAGCTCCTCACAAATGGGGGTTATCATTGTTACTGCTGGAGCAGGTCGGAGGGTATCTGTATGCCAGAGGCAGTCACAGTGGTGGGCGGGCTCAGTTGAGAAATCTGGGCTGTCAGGTGAGGTGCAGATGGAGGCCAAGTCGTGGGATGGCACAAGGACCTCTGGGTCTTTTAGAGGTTTCCAAGGACTCCTGGAGCCAGAAAGGTGTGGGGAGAGGAGGGAGCAGTGGGATCCCAAGATGTCAAGGCTAAGATTGGTCCCCACAGGGCTCAGAGGGTGGGTGGACCCCATACTGCCCCACCCCGAAGGGGATGGCGTGGAGGCTTTGGGTCTCCACAGGGGTCAGGGACTGAGGACAGGTTCTGTGGGGGCAGGAGGGGCCAAGCAGGTGCTCTGCAGCCCCTGAGCCTGGCCCTGGGCTCGCCAGCAGAAGCAGGACCGGATTGAGGGCTTGAAGCGGCACATCGAGAAGCACCGCTACCACGTGCGCATGCTAGAGACCATCCTGCGCATGCTGGACAATGACTCCATCCTCGTTGACGCCATCCGCAAGATCAAGGACGACGTTGAGTACTATGTTGACTCATCCCAGGACCCCGACTTCGAGGAGAACGAGTTTCTCTACGATGACCTGGACCTCGAGGACATTCGTGAGGCCCTGGGGCTGATCGTGGCACAGGAAGTGAGGGCCCAGAATGGGCTGTGTGAGCCAGCTAAGCATGCCCTTCTTCTGCCCCCACAGCACAGGCGCTGGTCGCCACCTCCCCCCCCAGCCACAGCCACATGGAGGATGAGATCTTCAACCAGTCCAGCAGCACGCCCACCTCAACCACCTCCAGCTCTCCCATCCCGCCCAGCCCAGCCCAGCCAACTGTACCACGGTGAGGCCCCACGGGACACTAGTACCTTGTGTTTCCAGCAGGGCAGGACTCGAGGAGACAAATCTGGGTCACTCCAAAGTGGCTATGGGAGCGTAATTGAGGAAACACAGATCTAGGTATCCAGGGTCTAGGCTCTTGGAGCACACGCTAAGGTCCTATATCTGGGTCCCTAAAGGACATAAAGAGCAATAGGGTGCATCCCGCGCCAGTTTAGGTCCTGGATCTGGGAAGTGGGAGGGGCCGGTGCCTGGGCTGCCTGAGGAGGCTGGGTAGCTGGCCACCTTGGGCAGGGATCCAAGGGTTGGCTTCCCTGTGGAGAGCAGGTTCCCAGATCCTTAAGAGGCTGGTGGGTCAGTGCTGGCTCCCAGAAAACAAGAAGACTGGAGAGCCTGAATTGAGATGGTTTCTCCAGGCAGATTAAGGACAGCCATTTGACCAGCTCTGGGGCCGCAATGGCAGTCAATTGGGCCCAGGTCCCCGGGGCATTCAGAGATTGGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTTCCCAAAGGCATCTTGAGGCCTGAGCGCCGGCCACTGTGCTGGGCTGGTGGACACAGGTGGCTCAGAAATCAGTGCTGCCCTGAGGGCAGGTGGGCAGGGCAAGTGGACAGGTGACTGGTGCTGTGGTCAAGGGGGTAGCACACAGGTCACCCTTGGCCTGGCCAGGCAGTCAGGAGATGCTGCTGTGGAGTGCCCTGGGCTTCACAGTCAGGTGAGTTTGCCTGGCAGGGAGAGGTGGCAGCCAGTAACATGGGCAAGTTGTGACAGAAAGTTTGGAAGTGAGGAGAGATGAGTCTGGCCAGGTCTGCAGGGCCAGGGGCCCAACTGTGAGCACAGGGACTGGGACTGTCAGGCTGAGGGGCTCAGGCTTTGTGGACCTGAGTGGCCTCCAGAGTCCAATAAGCCTAGGAAGCGATGGGGCCTTTGCTGTGCTGATAATACACACTGCAAATTTCTGAGAGGAGACGGTGGCGGGCAGTGCTTCTTCAACTCCTTTGACATCTCCCAGGACAGGAGCACGCTTTCGGAAACGCTGCTACAGAACAATGTTAGGCAGGAGCAGCATGGGCCTGAGGCCCCTCTGTGGGCTAACGGGATGGATGGTTCCAAGGGGACACCCTGAGTGGGCATTGAGGAGGCTGGTGTGGAGACTAAGGGGACCCGCAGGTAGTAGTGAGGGCGGGCAACAGGGCCAGGAGGTGATGAGGAGAGACACTGAGGCAGGTACTCCAGGGGCCAGGCTGGGCTCTGCCACCTTCCCAGGCCCCCACTGCCAAGCAGCGATGCCCAGGAGAGAAGTGGGTAGTCAGTCCTGTTGGGCGCTTGGTAAGCGCAAGGTGCCTGTGGGGTGGCTGGAAAGAAGCCCAGGAGGTGGTTAGGCTCAGCAGCCCGAGTGCTGTCCGCAGATTGCCTGCGGTAGGGATACCATGAGCACATTTACCCTCCCACCACTTTCTGGAGTGCTGGTAACTTCCAGCCCTGTGAGTAGCTTCTGTGACCCTTCAGGTGACATTCAGAATTACTATCCAATTTCCAGCTGTTTTTCCTTCTACTCTTGGACATTAGGCGGCTCCAGCTAATCTCATATTGAGAACACTTAAGTGTTTCCCACTAGTCCTCTGGCTTCCAACAGATGGATCTTCTCTGGCTGACAACCTAAGTTGTGTGTCAGATCCCTGTGGGGGTGTCCATGGGGCGGTGTCCAGGCAGGACTTGGGAAGCTGGGCAGGCTGGAAATCAGTGTGAGTGTTTTAAGCATGAAGGTGATTGAAGCCATGAGGGTGAGTAAGGTCACCCAGGTCCCCAAGAGGGCAGGAGCAGGTGGGGGCAGCGAGGCCAGAGAGGAGGCTGCT
|
pathogenic
| 309,892 |
Does the variant on chromosome 19 at location 54152897 affecting gene CNOT3 (CCR4-NOT transcription complex subunit 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; []
|
GGTGCAATCTCAGCTGAATGCAACATCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCGCAGCCTACTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCAGGCTAATTTTTATATTTTTAATAGAGATGGGGTTTTGCCATGTTGGTCAGGCAGGTCTTGAACTCCGAACCTCAGGTGATCCACCCACCTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCAAATTTTAGAAGTAGGTGGACAGGATATTTATAGTGCGTGCATTTTTCTGGAAAAAGGGAAACAGCAGCTTTGAGATTTTCAGAAGGGGTCCATATCTTTTAACACCACCAACAACAAAAATGAATCGCTGGGGTGGGTGGTCGGGAACCATGGCAAGGTTTGGAGTAGAGAAGGAACAACATGACTTCATTGGAAAGGTCCCCTGGGGCTGGTGAGGACAGGATAGAGGGAGGGTGGTCTGGGCAGGAGAGGACAGGCCTGGGCTGTGTGGGACATGGTGGCACGACAGGGAAGGGAGCCATCCAGTGGGGTTTAGAAGCAGGACGGATAGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCTCTTAGGGAGGCAGAGGCGGGAGGATAGCTTGAGCCCAGGAGTTTGAGACCTGCCTGGGCGATATAGCGAGACAGGATGGATAAGCCTTGGCGACTGACTCGTTGTGGAGAGTCCAGCACAGGGCTGGGGTTTGGGACAGCTGCACGTGGCTGGAGGAGATGGGAGGAACCAGCCCTGACTTTGGGGAACAGAAGCCTGCTGTAACCTTTGTAATAGGAAACGAGGCTGTGGCTGCGGGGCTGGAGACCCAACCTACCTGTTTCCAGCAAGGAGACTGAAGCCTAGCCGGGCTGGGCCCACCCCGATTCCAGTCACCCCATGCCAGTCACAGGCAGACAGCTGAGCATGTAGACCTCCTGCCTCCTTCAAGACAGGCGGGAGCTCTCCCAGCGTGTAGGTGTCCCTAGTGAAGGAGCGTGTACTATTGGCACATCCTTTGACAAAAATGGTAGCGCACTGTACATATTCTGCAGGTTGGCGTTTACTTCTGTAGTATGTCACGAACTTGTATTTTGAAAATCTCGGCGTAGTATTCCATGCTGCAGAGTCCCACTCACGAGACGTTCCTCTGCTGATGAATGCGTCGTGGTCTCCGATTGTTTCCCTACAGTTTGATGCTTTTACCTGTCATGGGTAGATTGTGGGGAGTGGGTCGTTGGCCCTCCACGGCCCCCAAACAGGGCAGGTGAGAGCATCTGGGGCCTGTGTCAGGCTGCACTTGCTCCTGCAGCCCAAGTGCTCAGGCCAGGCCTCTTGTTTCCTCCCCAGGCCCCTGAGCCTCTGAGCTCCTTGAAGTCCATGGCGGAACGGGCAGCCATCAGCTCTGGCATTGAGGACCCTGTGCCAACGCTGCACCTGACCGAGCGAGGTGAGGGACCCAGGATGGTGGGGAAGCAGCGGGCCAAAGAGGAGGGGCTGCCCCTGACCCATCCTCACCACTGAGGGGGCCGGACCCCCACCCTCCCCACAGACATCATCCTGAGCAGTACATCAGCACCTCCGGCCTCAGCCCAGCCGCCCCTGCAGCTGTCAGAGGTGAACATACCGCTGTCGCTGGGTGTCTGTCCACTGGGCCCTGTGCCCCTCACCAAGGAGCAGCTCTATCAGCAGGCCATGGAAGAGGCCGCCTGGCACCACATGCCTCACCCCTCTGACTCTGAGCGTATTCGGTGAGGGGCCACAGGGAAGGGGGATGGTCTGGGACTTGAGTCTTACGGAGGAGGCAGTGGCTGAACCTGTGAGGCTGTGGGTAGAGCACCAGGCCCCTGACTTGGGCTCTCCACTGAAGGTCAGCACCGCCCTGGGTCTTTCTGTACCACCTCCCCCCGCAGGGATGCATGTCTGAGCACCCTTTTGATCACGACAGGACTAGTAGGCAGCTGGCACTGACCTTCCTGTTGCTCTCACAGGCAGTACCTCCCCCGGAACCCCTGTCCGACGCCCCCCTACCACCACCAGATGCCACCCCCACACTCGGACACTGTGGAATTCTACCAGCGCCTGTCGACCGAGACACTCTTCTTCATCTTCTACTATCTGGAGGTACAGCAGGGCCCCCGGGGCAGCCTCGGGCCCCCCGGCTTCGCCGCCACCGCCGCCGTCCCCCCTCGGGCTGGAGGGGTGAGGTGGGTGCCCCACTGCGGCCACTGGGACCGCACCCCCTCCCTATTCCCACTCCTGGGCCCCTGCCCCAAATCCACCTGTCCCCGTCCCCGCCTTCCAGCCCAGAGATGTTAGAACTGCTTGGGTTGACAGCGAGGCTGGTCCACTGAGGCACACCTCAGCCCCGCTTCCAGTTGCCCACTGGCTCACCCGCGGCCCCTCCCCAGCCCTGCTCCAGCAGCCCCAGTCTAGGCCGACCCCACTCTGCTCATTGGCACATTCTCAGGCCTCCCTGGAGACCACTGGGGAGCTGTCCAGCCCCCTCCCAACCCCAGTGAGTCATGAGTGACCTCCACCCTCATCCCCACTTGGGAAATTTTCTAAATTGCCTCCTCTCTCAGCTCTCATCACACATTAGTTTTTCTTCCTTCTCAAAGCTTCTCTGAAAGCAATTTTCACCTCCTGTCTCATTTTCCTTCTCCTGATCAGCATTGGTATGTTCTGTGCCCCCAGCCCCATCTCCAAGAGGATTGTCCAGCCCAACTGTGGTCTGTGGCGGGGGCCGGGGTTCAGCCCTGATGTCCTGCCCCATTCCCCTGGCTCCCCACCCAGTTTGGGGGCCCCCTGATCCCCCTCTCCACTGTTCCTCCCCCAGGGCACTAAGGCACAGTATCTGGCAGCCAAGGCCCTAAAGAAGCAGTCATGGCGATTCCACACCAAGTACATGATGTGGTTCCAGAGGCACGAGGAGCCCAAGACCATCACTGACGAGTTTGAGCAGGTGAGGGCCCCGCCCCCTCTCTTCCCGCTGCTAGGGTTGGGGTAGAGTCCCCAGGCTCCAGGCAGCCCCTGCTGGCCTCTGCTCCCTTGCCTCCACCTTTCAGCTGGCGCAGTCCCTCAGCCTGACCAAGTACTCCTCCCTCTGGCTGTCTGCTCAGCCTGGAACACCGCCCTCTCATCCTCCACTTGGCCAGCTCCTAGGCCTCCTGTAGGTCTCAGCCCAAATGTCCCTTCCTCAAAGAAACCTTCCTGGAGCCACCCAGCCCAGTGCCTCCCCTTTGCAGTGCTGGGCACACTCGCCTGGGGTGTGGGATTTTCCCAGTATGTGTCCCTGCACCAGGCTGTGGGCTCTGCTGCCGAGGGACCTTGATGGCCCCCACTTCACCTCCAGGTCCCAGCACTCAGCAGGGCAGGGGCTCAGTGCGGAAACTATTTTTTTTGAATGGGCTTCTCAAGTTCTAATACTGGGAAATTCCTGCTGCTTGCAAACACTCTGGAACCAACCTACCTGGGTTTCAGCCCAGTCCAGCTGGGCGACTCTAGGCAAGTCACTCGAACCTCTGTGTCTCAATTAACTTATCTGTAAAAATGGGGGGAAGACCACCTACCTAATGCAGTTGTTATGAAGATTAAATGAGTTAATAACATGTAAGTACTTAATGGTGACTGCTACATAGTCAGTGTCATGGATTTTTTTTTTCAAATTACTTTCAGTTGGTGTGTTCTACAGTGATGTTTTTTTCCACCAAATACTTCCCTGATGCCGAGCCCCTTCATGGGGATGAAGTAGTACAAGGTCCTTGTCCTCAGAGAACTCAGTCCCCTCTCCTGGTTCTCCCAGGTTGCCATCTTTGAAGCACTTAAGACATTCATTTAGAACCTAGGTCCTCTCCCATTGTGTCCTCAGATGTTAACCACAGACTTCCTGTCCTTTCCTGGTTTGGCCCAAAACCATCCTCCAAGTTAGTACATTTCAGGGCATCCAGTCATTCAGAAATTCCCACACCACTTCGTCACCAATAAAATGTCCCTGCAGAGTGCTTGGATTTAGACTCTGAGACTGTTCCATTCTCTAGAACAAGGGTGACAGTACCCACTGCCTCGA
|
GGTGCAATCTCAGCTGAATGCAACATCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCGCAGCCTACTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCAGGCTAATTTTTATATTTTTAATAGAGATGGGGTTTTGCCATGTTGGTCAGGCAGGTCTTGAACTCCGAACCTCAGGTGATCCACCCACCTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCAAATTTTAGAAGTAGGTGGACAGGATATTTATAGTGCGTGCATTTTTCTGGAAAAAGGGAAACAGCAGCTTTGAGATTTTCAGAAGGGGTCCATATCTTTTAACACCACCAACAACAAAAATGAATCGCTGGGGTGGGTGGTCGGGAACCATGGCAAGGTTTGGAGTAGAGAAGGAACAACATGACTTCATTGGAAAGGTCCCCTGGGGCTGGTGAGGACAGGATAGAGGGAGGGTGGTCTGGGCAGGAGAGGACAGGCCTGGGCTGTGTGGGACATGGTGGCACGACAGGGAAGGGAGCCATCCAGTGGGGTTTAGAAGCAGGACGGATAGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCTCTTAGGGAGGCAGAGGCGGGAGGATAGCTTGAGCCCAGGAGTTTGAGACCTGCCTGGGCGATATAGCGAGACAGGATGGATAAGCCTTGGCGACTGACTCGTTGTGGAGAGTCCAGCACAGGGCTGGGGTTTGGGACAGCTGCACGTGGCTGGAGGAGATGGGAGGAACCAGCCCTGACTTTGGGGAACAGAAGCCTGCTGTAACCTTTGTAATAGGAAACGAGGCTGTGGCTGCGGGGCTGGAGACCCAACCTACCTGTTTCCAGCAAGGAGACTGAAGCCTAGCCGGGCTGGGCCCACCCCGATTCCAGTCACCCCATGCCAGTCACAGGCAGACAGCTGAGCATGTAGACCTCCTGCCTCCTTCAAGACAGGCGGGAGCTCTCCCAGCGTGTAGGTGTCCCTAGTGAAGGAGCGTGTACTATTGGCACATCCTTTGACAAAAATGGTAGCGCACTGTACATATTCTGCAGGTTGGCGTTTACTTCTGTAGTATGTCACGAACTTGTATTTTGAAAATCTCGGCGTAGTATTCCATGCTGCAGAGTCCCACTCACGAGACGTTCCTCTGCTGATGAATGCGTCGTGGTCTCCGATTGTTTCCCTACAGTTTGATGCTTTTACCTGTCATGGGTAGATTGTGGGGAGTGGGTCGTTGGCCCTCCACGGCCCCCAAACAGGGCAGGTGAGAGCATCTGGGGCCTGTGTCAGGCTGCACTTGCTCCTGCAGCCCAAGTGCTCAGGCCAGGCCTCTTGTTTCCTCCCCAGGCCCCTGAGCCTCTGAGCTCCTTGAAGTCCATGGCGGAACGGGCAGCCATCAGCTCTGGCATTGAGGACCCTGTGCCAACGCTGCACCTGACCGAGCGAGGTGAGGGACCCAGGATGGTGGGGAAGCAGCGGGCCAAAGAGGAGGGGCTGCCCCTGACCCATCCTCACCACTGAGGGGGCCGGACCCCCACCCTCCCCACAGACATCATCCTGAGCAGTACATCAGCACCTCCGGCCTCAGCCCAGCCGCCCCTGCAGCTGTCAGAGGTGAACATACCGCTGTCGCTGGGTGTCTGTCCACTGGGCCCTGTGCCCCTCACCAAGGAGCAGCTCTATCAGCAGGCCATGGAAGAGGCCGCCTGGCACCACATGCCTCACCCCTCTGACTCTGAGCGTATTCGGTGAGGGGCCACAGGGAAGGGGGATGGTCTGGGACTTGAGTCTTACGGAGGAGGCAGTGGCTGAACCTGTGAGGCTGTGGGTAGAGCACCAGGCCCCTGACTTGGGCTCTCCACTGAAGGTCAGCACCGCCCTGGGTCTTTCTGTACCACCTCCCCCCGCAGGGATGCATGTCTGAGCACCCTTTTGATCACGACAGGACTAGTAGGCAGCTGGCACTGACCTTCCTGTTGCTCTCACAGGCAGTACCTCCCCCGGAACCCCTGTCCGACGCCCCCCCTACCACCACCAGATGCCACCCCCACACTCGGACACTGTGGAATTCTACCAGCGCCTGTCGACCGAGACACTCTTCTTCATCTTCTACTATCTGGAGGTACAGCAGGGCCCCCGGGGCAGCCTCGGGCCCCCCGGCTTCGCCGCCACCGCCGCCGTCCCCCCTCGGGCTGGAGGGGTGAGGTGGGTGCCCCACTGCGGCCACTGGGACCGCACCCCCTCCCTATTCCCACTCCTGGGCCCCTGCCCCAAATCCACCTGTCCCCGTCCCCGCCTTCCAGCCCAGAGATGTTAGAACTGCTTGGGTTGACAGCGAGGCTGGTCCACTGAGGCACACCTCAGCCCCGCTTCCAGTTGCCCACTGGCTCACCCGCGGCCCCTCCCCAGCCCTGCTCCAGCAGCCCCAGTCTAGGCCGACCCCACTCTGCTCATTGGCACATTCTCAGGCCTCCCTGGAGACCACTGGGGAGCTGTCCAGCCCCCTCCCAACCCCAGTGAGTCATGAGTGACCTCCACCCTCATCCCCACTTGGGAAATTTTCTAAATTGCCTCCTCTCTCAGCTCTCATCACACATTAGTTTTTCTTCCTTCTCAAAGCTTCTCTGAAAGCAATTTTCACCTCCTGTCTCATTTTCCTTCTCCTGATCAGCATTGGTATGTTCTGTGCCCCCAGCCCCATCTCCAAGAGGATTGTCCAGCCCAACTGTGGTCTGTGGCGGGGGCCGGGGTTCAGCCCTGATGTCCTGCCCCATTCCCCTGGCTCCCCACCCAGTTTGGGGGCCCCCTGATCCCCCTCTCCACTGTTCCTCCCCCAGGGCACTAAGGCACAGTATCTGGCAGCCAAGGCCCTAAAGAAGCAGTCATGGCGATTCCACACCAAGTACATGATGTGGTTCCAGAGGCACGAGGAGCCCAAGACCATCACTGACGAGTTTGAGCAGGTGAGGGCCCCGCCCCCTCTCTTCCCGCTGCTAGGGTTGGGGTAGAGTCCCCAGGCTCCAGGCAGCCCCTGCTGGCCTCTGCTCCCTTGCCTCCACCTTTCAGCTGGCGCAGTCCCTCAGCCTGACCAAGTACTCCTCCCTCTGGCTGTCTGCTCAGCCTGGAACACCGCCCTCTCATCCTCCACTTGGCCAGCTCCTAGGCCTCCTGTAGGTCTCAGCCCAAATGTCCCTTCCTCAAAGAAACCTTCCTGGAGCCACCCAGCCCAGTGCCTCCCCTTTGCAGTGCTGGGCACACTCGCCTGGGGTGTGGGATTTTCCCAGTATGTGTCCCTGCACCAGGCTGTGGGCTCTGCTGCCGAGGGACCTTGATGGCCCCCACTTCACCTCCAGGTCCCAGCACTCAGCAGGGCAGGGGCTCAGTGCGGAAACTATTTTTTTTGAATGGGCTTCTCAAGTTCTAATACTGGGAAATTCCTGCTGCTTGCAAACACTCTGGAACCAACCTACCTGGGTTTCAGCCCAGTCCAGCTGGGCGACTCTAGGCAAGTCACTCGAACCTCTGTGTCTCAATTAACTTATCTGTAAAAATGGGGGGAAGACCACCTACCTAATGCAGTTGTTATGAAGATTAAATGAGTTAATAACATGTAAGTACTTAATGGTGACTGCTACATAGTCAGTGTCATGGATTTTTTTTTTCAAATTACTTTCAGTTGGTGTGTTCTACAGTGATGTTTTTTTCCACCAAATACTTCCCTGATGCCGAGCCCCTTCATGGGGATGAAGTAGTACAAGGTCCTTGTCCTCAGAGAACTCAGTCCCCTCTCCTGGTTCTCCCAGGTTGCCATCTTTGAAGCACTTAAGACATTCATTTAGAACCTAGGTCCTCTCCCATTGTGTCCTCAGATGTTAACCACAGACTTCCTGTCCTTTCCTGGTTTGGCCCAAAACCATCCTCCAAGTTAGTACATTTCAGGGCATCCAGTCATTCAGAAATTCCCACACCACTTCGTCACCAATAAAATGTCCCTGCAGAGTGCTTGGATTTAGACTCTGAGACTGTTCCATTCTCTAGAACAAGGGTGACAGTACCCACTGCCTCG
|
pathogenic
| 309,906 |
Variant chromosome 19, position 54152938, gene CNOT3 (CCR4-NOT transcription complex subunit 3): benign or pathogenic? Disease(s)?
|
pathogenic
|
AAGCGATTCTCCTGCCGCAGCCTACTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCAGGCTAATTTTTATATTTTTAATAGAGATGGGGTTTTGCCATGTTGGTCAGGCAGGTCTTGAACTCCGAACCTCAGGTGATCCACCCACCTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCAAATTTTAGAAGTAGGTGGACAGGATATTTATAGTGCGTGCATTTTTCTGGAAAAAGGGAAACAGCAGCTTTGAGATTTTCAGAAGGGGTCCATATCTTTTAACACCACCAACAACAAAAATGAATCGCTGGGGTGGGTGGTCGGGAACCATGGCAAGGTTTGGAGTAGAGAAGGAACAACATGACTTCATTGGAAAGGTCCCCTGGGGCTGGTGAGGACAGGATAGAGGGAGGGTGGTCTGGGCAGGAGAGGACAGGCCTGGGCTGTGTGGGACATGGTGGCACGACAGGGAAGGGAGCCATCCAGTGGGGTTTAGAAGCAGGACGGATAGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCTCTTAGGGAGGCAGAGGCGGGAGGATAGCTTGAGCCCAGGAGTTTGAGACCTGCCTGGGCGATATAGCGAGACAGGATGGATAAGCCTTGGCGACTGACTCGTTGTGGAGAGTCCAGCACAGGGCTGGGGTTTGGGACAGCTGCACGTGGCTGGAGGAGATGGGAGGAACCAGCCCTGACTTTGGGGAACAGAAGCCTGCTGTAACCTTTGTAATAGGAAACGAGGCTGTGGCTGCGGGGCTGGAGACCCAACCTACCTGTTTCCAGCAAGGAGACTGAAGCCTAGCCGGGCTGGGCCCACCCCGATTCCAGTCACCCCATGCCAGTCACAGGCAGACAGCTGAGCATGTAGACCTCCTGCCTCCTTCAAGACAGGCGGGAGCTCTCCCAGCGTGTAGGTGTCCCTAGTGAAGGAGCGTGTACTATTGGCACATCCTTTGACAAAAATGGTAGCGCACTGTACATATTCTGCAGGTTGGCGTTTACTTCTGTAGTATGTCACGAACTTGTATTTTGAAAATCTCGGCGTAGTATTCCATGCTGCAGAGTCCCACTCACGAGACGTTCCTCTGCTGATGAATGCGTCGTGGTCTCCGATTGTTTCCCTACAGTTTGATGCTTTTACCTGTCATGGGTAGATTGTGGGGAGTGGGTCGTTGGCCCTCCACGGCCCCCAAACAGGGCAGGTGAGAGCATCTGGGGCCTGTGTCAGGCTGCACTTGCTCCTGCAGCCCAAGTGCTCAGGCCAGGCCTCTTGTTTCCTCCCCAGGCCCCTGAGCCTCTGAGCTCCTTGAAGTCCATGGCGGAACGGGCAGCCATCAGCTCTGGCATTGAGGACCCTGTGCCAACGCTGCACCTGACCGAGCGAGGTGAGGGACCCAGGATGGTGGGGAAGCAGCGGGCCAAAGAGGAGGGGCTGCCCCTGACCCATCCTCACCACTGAGGGGGCCGGACCCCCACCCTCCCCACAGACATCATCCTGAGCAGTACATCAGCACCTCCGGCCTCAGCCCAGCCGCCCCTGCAGCTGTCAGAGGTGAACATACCGCTGTCGCTGGGTGTCTGTCCACTGGGCCCTGTGCCCCTCACCAAGGAGCAGCTCTATCAGCAGGCCATGGAAGAGGCCGCCTGGCACCACATGCCTCACCCCTCTGACTCTGAGCGTATTCGGTGAGGGGCCACAGGGAAGGGGGATGGTCTGGGACTTGAGTCTTACGGAGGAGGCAGTGGCTGAACCTGTGAGGCTGTGGGTAGAGCACCAGGCCCCTGACTTGGGCTCTCCACTGAAGGTCAGCACCGCCCTGGGTCTTTCTGTACCACCTCCCCCCGCAGGGATGCATGTCTGAGCACCCTTTTGATCACGACAGGACTAGTAGGCAGCTGGCACTGACCTTCCTGTTGCTCTCACAGGCAGTACCTCCCCCGGAACCCCTGTCCGACGCCCCCCTACCACCACCAGATGCCACCCCCACACTCGGACACTGTGGAATTCTACCAGCGCCTGTCGACCGAGACACTCTTCTTCATCTTCTACTATCTGGAGGTACAGCAGGGCCCCCGGGGCAGCCTCGGGCCCCCCGGCTTCGCCGCCACCGCCGCCGTCCCCCCTCGGGCTGGAGGGGTGAGGTGGGTGCCCCACTGCGGCCACTGGGACCGCACCCCCTCCCTATTCCCACTCCTGGGCCCCTGCCCCAAATCCACCTGTCCCCGTCCCCGCCTTCCAGCCCAGAGATGTTAGAACTGCTTGGGTTGACAGCGAGGCTGGTCCACTGAGGCACACCTCAGCCCCGCTTCCAGTTGCCCACTGGCTCACCCGCGGCCCCTCCCCAGCCCTGCTCCAGCAGCCCCAGTCTAGGCCGACCCCACTCTGCTCATTGGCACATTCTCAGGCCTCCCTGGAGACCACTGGGGAGCTGTCCAGCCCCCTCCCAACCCCAGTGAGTCATGAGTGACCTCCACCCTCATCCCCACTTGGGAAATTTTCTAAATTGCCTCCTCTCTCAGCTCTCATCACACATTAGTTTTTCTTCCTTCTCAAAGCTTCTCTGAAAGCAATTTTCACCTCCTGTCTCATTTTCCTTCTCCTGATCAGCATTGGTATGTTCTGTGCCCCCAGCCCCATCTCCAAGAGGATTGTCCAGCCCAACTGTGGTCTGTGGCGGGGGCCGGGGTTCAGCCCTGATGTCCTGCCCCATTCCCCTGGCTCCCCACCCAGTTTGGGGGCCCCCTGATCCCCCTCTCCACTGTTCCTCCCCCAGGGCACTAAGGCACAGTATCTGGCAGCCAAGGCCCTAAAGAAGCAGTCATGGCGATTCCACACCAAGTACATGATGTGGTTCCAGAGGCACGAGGAGCCCAAGACCATCACTGACGAGTTTGAGCAGGTGAGGGCCCCGCCCCCTCTCTTCCCGCTGCTAGGGTTGGGGTAGAGTCCCCAGGCTCCAGGCAGCCCCTGCTGGCCTCTGCTCCCTTGCCTCCACCTTTCAGCTGGCGCAGTCCCTCAGCCTGACCAAGTACTCCTCCCTCTGGCTGTCTGCTCAGCCTGGAACACCGCCCTCTCATCCTCCACTTGGCCAGCTCCTAGGCCTCCTGTAGGTCTCAGCCCAAATGTCCCTTCCTCAAAGAAACCTTCCTGGAGCCACCCAGCCCAGTGCCTCCCCTTTGCAGTGCTGGGCACACTCGCCTGGGGTGTGGGATTTTCCCAGTATGTGTCCCTGCACCAGGCTGTGGGCTCTGCTGCCGAGGGACCTTGATGGCCCCCACTTCACCTCCAGGTCCCAGCACTCAGCAGGGCAGGGGCTCAGTGCGGAAACTATTTTTTTTGAATGGGCTTCTCAAGTTCTAATACTGGGAAATTCCTGCTGCTTGCAAACACTCTGGAACCAACCTACCTGGGTTTCAGCCCAGTCCAGCTGGGCGACTCTAGGCAAGTCACTCGAACCTCTGTGTCTCAATTAACTTATCTGTAAAAATGGGGGGAAGACCACCTACCTAATGCAGTTGTTATGAAGATTAAATGAGTTAATAACATGTAAGTACTTAATGGTGACTGCTACATAGTCAGTGTCATGGATTTTTTTTTTCAAATTACTTTCAGTTGGTGTGTTCTACAGTGATGTTTTTTTCCACCAAATACTTCCCTGATGCCGAGCCCCTTCATGGGGATGAAGTAGTACAAGGTCCTTGTCCTCAGAGAACTCAGTCCCCTCTCCTGGTTCTCCCAGGTTGCCATCTTTGAAGCACTTAAGACATTCATTTAGAACCTAGGTCCTCTCCCATTGTGTCCTCAGATGTTAACCACAGACTTCCTGTCCTTTCCTGGTTTGGCCCAAAACCATCCTCCAAGTTAGTACATTTCAGGGCATCCAGTCATTCAGAAATTCCCACACCACTTCGTCACCAATAAAATGTCCCTGCAGAGTGCTTGGATTTAGACTCTGAGACTGTTCCATTCTCTAGAACAAGGGTGACAGTACCCACTGCCTCGAGGTCTTTGTGAAGATTAAATGCTAGGCTGTGCATCCTGTAC
|
AAGCGATTCTCCTGCCGCAGCCTACTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCAGGCTAATTTTTATATTTTTAATAGAGATGGGGTTTTGCCATGTTGGTCAGGCAGGTCTTGAACTCCGAACCTCAGGTGATCCACCCACCTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCAAATTTTAGAAGTAGGTGGACAGGATATTTATAGTGCGTGCATTTTTCTGGAAAAAGGGAAACAGCAGCTTTGAGATTTTCAGAAGGGGTCCATATCTTTTAACACCACCAACAACAAAAATGAATCGCTGGGGTGGGTGGTCGGGAACCATGGCAAGGTTTGGAGTAGAGAAGGAACAACATGACTTCATTGGAAAGGTCCCCTGGGGCTGGTGAGGACAGGATAGAGGGAGGGTGGTCTGGGCAGGAGAGGACAGGCCTGGGCTGTGTGGGACATGGTGGCACGACAGGGAAGGGAGCCATCCAGTGGGGTTTAGAAGCAGGACGGATAGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCTCTTAGGGAGGCAGAGGCGGGAGGATAGCTTGAGCCCAGGAGTTTGAGACCTGCCTGGGCGATATAGCGAGACAGGATGGATAAGCCTTGGCGACTGACTCGTTGTGGAGAGTCCAGCACAGGGCTGGGGTTTGGGACAGCTGCACGTGGCTGGAGGAGATGGGAGGAACCAGCCCTGACTTTGGGGAACAGAAGCCTGCTGTAACCTTTGTAATAGGAAACGAGGCTGTGGCTGCGGGGCTGGAGACCCAACCTACCTGTTTCCAGCAAGGAGACTGAAGCCTAGCCGGGCTGGGCCCACCCCGATTCCAGTCACCCCATGCCAGTCACAGGCAGACAGCTGAGCATGTAGACCTCCTGCCTCCTTCAAGACAGGCGGGAGCTCTCCCAGCGTGTAGGTGTCCCTAGTGAAGGAGCGTGTACTATTGGCACATCCTTTGACAAAAATGGTAGCGCACTGTACATATTCTGCAGGTTGGCGTTTACTTCTGTAGTATGTCACGAACTTGTATTTTGAAAATCTCGGCGTAGTATTCCATGCTGCAGAGTCCCACTCACGAGACGTTCCTCTGCTGATGAATGCGTCGTGGTCTCCGATTGTTTCCCTACAGTTTGATGCTTTTACCTGTCATGGGTAGATTGTGGGGAGTGGGTCGTTGGCCCTCCACGGCCCCCAAACAGGGCAGGTGAGAGCATCTGGGGCCTGTGTCAGGCTGCACTTGCTCCTGCAGCCCAAGTGCTCAGGCCAGGCCTCTTGTTTCCTCCCCAGGCCCCTGAGCCTCTGAGCTCCTTGAAGTCCATGGCGGAACGGGCAGCCATCAGCTCTGGCATTGAGGACCCTGTGCCAACGCTGCACCTGACCGAGCGAGGTGAGGGACCCAGGATGGTGGGGAAGCAGCGGGCCAAAGAGGAGGGGCTGCCCCTGACCCATCCTCACCACTGAGGGGGCCGGACCCCCACCCTCCCCACAGACATCATCCTGAGCAGTACATCAGCACCTCCGGCCTCAGCCCAGCCGCCCCTGCAGCTGTCAGAGGTGAACATACCGCTGTCGCTGGGTGTCTGTCCACTGGGCCCTGTGCCCCTCACCAAGGAGCAGCTCTATCAGCAGGCCATGGAAGAGGCCGCCTGGCACCACATGCCTCACCCCTCTGACTCTGAGCGTATTCGGTGAGGGGCCACAGGGAAGGGGGATGGTCTGGGACTTGAGTCTTACGGAGGAGGCAGTGGCTGAACCTGTGAGGCTGTGGGTAGAGCACCAGGCCCCTGACTTGGGCTCTCCACTGAAGGTCAGCACCGCCCTGGGTCTTTCTGTACCACCTCCCCCCGCAGGGATGCATGTCTGAGCACCCTTTTGATCACGACAGGACTAGTAGGCAGCTGGCACTGACCTTCCTGTTGCTCTCACAGGCAGTACCTCCCCCGGAACCCCTGTCCGACGCCCCCCTACCACCACCAGATGCCACCCCCACACTCGGACACTGGAATTCTACCAGCGCCTGTCGACCGAGACACTCTTCTTCATCTTCTACTATCTGGAGGTACAGCAGGGCCCCCGGGGCAGCCTCGGGCCCCCCGGCTTCGCCGCCACCGCCGCCGTCCCCCCTCGGGCTGGAGGGGTGAGGTGGGTGCCCCACTGCGGCCACTGGGACCGCACCCCCTCCCTATTCCCACTCCTGGGCCCCTGCCCCAAATCCACCTGTCCCCGTCCCCGCCTTCCAGCCCAGAGATGTTAGAACTGCTTGGGTTGACAGCGAGGCTGGTCCACTGAGGCACACCTCAGCCCCGCTTCCAGTTGCCCACTGGCTCACCCGCGGCCCCTCCCCAGCCCTGCTCCAGCAGCCCCAGTCTAGGCCGACCCCACTCTGCTCATTGGCACATTCTCAGGCCTCCCTGGAGACCACTGGGGAGCTGTCCAGCCCCCTCCCAACCCCAGTGAGTCATGAGTGACCTCCACCCTCATCCCCACTTGGGAAATTTTCTAAATTGCCTCCTCTCTCAGCTCTCATCACACATTAGTTTTTCTTCCTTCTCAAAGCTTCTCTGAAAGCAATTTTCACCTCCTGTCTCATTTTCCTTCTCCTGATCAGCATTGGTATGTTCTGTGCCCCCAGCCCCATCTCCAAGAGGATTGTCCAGCCCAACTGTGGTCTGTGGCGGGGGCCGGGGTTCAGCCCTGATGTCCTGCCCCATTCCCCTGGCTCCCCACCCAGTTTGGGGGCCCCCTGATCCCCCTCTCCACTGTTCCTCCCCCAGGGCACTAAGGCACAGTATCTGGCAGCCAAGGCCCTAAAGAAGCAGTCATGGCGATTCCACACCAAGTACATGATGTGGTTCCAGAGGCACGAGGAGCCCAAGACCATCACTGACGAGTTTGAGCAGGTGAGGGCCCCGCCCCCTCTCTTCCCGCTGCTAGGGTTGGGGTAGAGTCCCCAGGCTCCAGGCAGCCCCTGCTGGCCTCTGCTCCCTTGCCTCCACCTTTCAGCTGGCGCAGTCCCTCAGCCTGACCAAGTACTCCTCCCTCTGGCTGTCTGCTCAGCCTGGAACACCGCCCTCTCATCCTCCACTTGGCCAGCTCCTAGGCCTCCTGTAGGTCTCAGCCCAAATGTCCCTTCCTCAAAGAAACCTTCCTGGAGCCACCCAGCCCAGTGCCTCCCCTTTGCAGTGCTGGGCACACTCGCCTGGGGTGTGGGATTTTCCCAGTATGTGTCCCTGCACCAGGCTGTGGGCTCTGCTGCCGAGGGACCTTGATGGCCCCCACTTCACCTCCAGGTCCCAGCACTCAGCAGGGCAGGGGCTCAGTGCGGAAACTATTTTTTTTGAATGGGCTTCTCAAGTTCTAATACTGGGAAATTCCTGCTGCTTGCAAACACTCTGGAACCAACCTACCTGGGTTTCAGCCCAGTCCAGCTGGGCGACTCTAGGCAAGTCACTCGAACCTCTGTGTCTCAATTAACTTATCTGTAAAAATGGGGGGAAGACCACCTACCTAATGCAGTTGTTATGAAGATTAAATGAGTTAATAACATGTAAGTACTTAATGGTGACTGCTACATAGTCAGTGTCATGGATTTTTTTTTTCAAATTACTTTCAGTTGGTGTGTTCTACAGTGATGTTTTTTTCCACCAAATACTTCCCTGATGCCGAGCCCCTTCATGGGGATGAAGTAGTACAAGGTCCTTGTCCTCAGAGAACTCAGTCCCCTCTCCTGGTTCTCCCAGGTTGCCATCTTTGAAGCACTTAAGACATTCATTTAGAACCTAGGTCCTCTCCCATTGTGTCCTCAGATGTTAACCACAGACTTCCTGTCCTTTCCTGGTTTGGCCCAAAACCATCCTCCAAGTTAGTACATTTCAGGGCATCCAGTCATTCAGAAATTCCCACACCACTTCGTCACCAATAAAATGTCCCTGCAGAGTGCTTGGATTTAGACTCTGAGACTGTTCCATTCTCTAGAACAAGGGTGACAGTACCCACTGCCTCGAGGTCTTTGTGAAGATTAAATGCTAGGCTGTGCATCCTGTACNN
|
pathogenic
| 309,908 |
Does the chromosome 19 mutation at position 54180848 within gene MBOAT7 (membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
|
pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability,_autosomal_recessive_57']
|
GATATACTGCGCCAGCCACCACTGCACCGTCATGTTCCAGTACCGCATGCCATCGCGCACCCGCACGCAGAAATCTGTGCTGTAGCAGTCGATGTTGCGGATGGTCTCATAGTCATACTCCAAGGAAGCCGCCTTCTCCGGACTGGGGGGTGGAGGATGAGGGTGGGGGACAGACATGCAGCTCAGCCAGGCCCCCTCCCGACGCCTGCTAGTGTCCCAGCCCCGGATGCTAAGGAAGGGATCCTGGCCAGGCAATGGCCCTCTGGCTGTCAGACTTGCTAGGGCAGCAAGGGAGGGTGGCCCAGAGGGTGCCTGTAGGGTAGGAAGGTGGGTGGGCTGGGTGGTACAGTCCACTGACAATGGGGTTCTTCTTCTTTTGGTACCTAATGGGGCCCGCCACAGCCATGAAAAGCCTTGAAGGGCTATGGTTGCTAAGCTATGAGTCCTTTAGCAACCAAGCTCAGTATATTCAGAGAAGCCGCCAAGGATGGTCCCTTCTAAATTGTCGGACACTGCAGTTGCCAGGGAAGTTGTGGTTATCATCCCTAATAACAAGGTGCTTCACGGTTGCTAGGGAGATGTTCCAGGCGCCAGTGGGGTCCCCATGATCTTTGTTGCTAAGGAAAAGGCATTCCTTAGCAACAATGCCTAGGATGTTTAGAAAGGCTTTTAGGAAGGGGCTTTTTTCCTGGTCGCAGTGATTATTGGAGAAGTGTCACCTCTAGCAATACAGTGGCTCCCTCATCACTCATGTCGACAGCCCCAGCAGTGGGAAACACTGGCCCATATGAAGCCTTGGTGGCCTCTGATGACAGGAGGGGAGCCATCCTTTAGGAGTGAGGACCGAGCAGATTTAGAAAAACCTTCAATTCCTGCTTGGCTTTACTAGGGGGACATCCTCTCTCTAGCAGCTGGAGGTCAGGGCACGGTTATTAGGGCAGTGGTAACAAATTCCCGTGGGGGTGTCACTACCCCCACAACAGAATGGCAGTTTGTGACGACTAGGGGACAACCCTAGCAGGGAGTAGTAGTTCATCATTTACATCAACAGGCTGTTCCCCCAGCCGCAGTCCAAGCCCCTGGGGGAAGGCTGACTGCAGCTGTCAGGAACACAAGGGCAGTCTACTCCTGGTTGCCGGGGGTGCCATCTCCCTAGCAACACGGGGGCAATACTTCCTCAGCCACAAGAGAGTCCACAGCTATGGCCGTGCGACTTGCCTAGCAATGCAGGTGCCGGGGGGTGGAGCCTCTCTGGCAACAAGGGTCAACCCATAGTTTCCAGGGGGAGGTTTGGCTTCCTTAGCAACAGTGTAACTGTAGTTGGTAGGAATGGCGTGCCCTCTGCTGGGGAACAGCACTGGTCAGGGATTGGAAATTGCTATTTCCTTGCAGAGGGCTGCTGAGGGCTGCTATGTGAGGACATCCCACGGGGTGGAGCAGTGCTAGCTCCTAGCAACAAAGGGGCAGTGCAGGGAGTGCCGTATCTGCAGCAACAGAGCAAAACTTCTGGTAAAAAGGAGGTGAGCTACTGTTGCTAGGGATCCTGCTTCCCTAGCAAATAGTGGCGTTCTGTTGCTAGGGAACCGTTTCCCTAGCAACAGAGGGTGACCCACCACTAGCAAAGGATGGCATCCCCAGCAAGCAGGAACAATCTGGTTCTGGGGGGTGACACTTCTGTGGCAACAGAGGGGTGGCACAGGGTTGCTAAGTTACCACCTTTTCCTAGCGACAGGGGGCAGTTCACCACACTGCGGGGTGACAAGCGCTAGCAACAAGGGGCATCTGTCAGTACCAGGGATCTTTTCCCTACCGACAGGGGCTGGCAGGCCATGGTTGCCGAGGGGGCGACACTCTGCTCAAAAAGGTGGTGGCCCTGGCCCCTTGCTCCCCGCTCTCCTCCCGGCTAGGGGCAGAGCCAGCCCTTGGAGGTGGGGGCTGCTGGGTCTTGGGAAGCCTCCCTCGCGCCGCCTGACCTGCTGGGGGGTGGGCATTGGAGGGTGGGGCCGCCTCCGGCCCGGGCTTTGGCGGCCACGGGGTAGGCCCCAAAGCCGGCGGCAATGCAGCCGCACTCGGCGGCAATCCAGGCCACGTAGAAGCGCATGCGGAAGGCGAAGAAGACGGGGATCATGTAGAAGAGGCGGGCGGGCAGCGGGCGGGCGTAGAAGGCGTCCTCGCGCACGGCCTCCAGCGGGAAGAGGTGAGAGGAGAGCAGGAACAGCAGGCCGAAGAGCGGGGCCGGCCAGGCGCGGCGCAGCAGGGGCCGCAGGCTGGGCACTGCCCCGGGGAAGGGCTGCTCCAGCCAGTCCAGGTAGGTGCGGTAGCGGAAGAACGGGCCTGTGGGGCGGGGAGGGAGGGCCGCGGTCAGACAGGCAGGTGGGCAGAGCTCAAGTCTGCAGGAGGAGGACAGGGAGCTTGGAAGGAAGGTGGGAAGAGGGAGTGAGAGGGGCAGAGACTGGGCGCCGGGGAGACCCCAAGGGTAGGGACTGAGACCCTGAGAGATGGGGATAAGGAACGAGAGACAGGGGGGACAAGAAACTCAGAGAGACAGAGACAGTAACAGAAAAACAGACAGAGGGGCCGGTGCGGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCCTAGCTGGGAGGACTGCTTGAGCCCAACAGTTGGACAGCAGCCTGGGCAAAACGGCAAGACCCCATCACTACAAAAAATAAAAATCAGCCAGGTGTGGAGGGCACCTGAATTCCCAGCTACTGGGGAGGCTGAGGCGGGAGGATCGTTTGAGCCCAGGCTGCAGTGAGCAGTGACTGAGCTACTGCATTCCAGCCAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGTGAAGAAGGGAAGAAAGAAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGAAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGAAGGGAAAAGGGAAGGACGGAGGGAAGGAGGAAGGAAAGAAACTAGGAGATAGCTGTGGCACTTTAGCTACAATATGATGGTGGTCTGGCCTAGGGAGGAAGCAGTGTGATTCACAGAAGGGACCGGGGTTAAAATTTTTATATGTTCACAAAGGCCGTATGTTTAGGTCAATGTAGCATGGGAAGATAAAAGGAAAAAAAAAACAAATTAAAATAAATAAATAAGACCACATGTTGTATGATTCCATTTGTAAGCGCAATGTCCAGAACAGGCAAATCTTTACAGATAGAAAGTCAATTACTGGTTACCAGGGATGGATGGAGGTTTGTGGGATGATGGACATGGGGTTTCTTTGCAGGGTATGAAACTGTTCTGAATATAACTACACAGTGGTCATGTCTGCACAACTCGGTGAATATACTAAAAATCAGGGAGTTGTATGTTTTGTGTTTTGTTTTTTTTCAGGAAATTAAAGAAGCCAAGAGTTGTATGTTTTAAGTGGATGAGTATGTGAATTAGAGTTCCCTAAAGCTGTTATTGGAAAAAAAACCTTTGATGAGGTAAACATTAATGAAAAATATTTTCTTTTTAAAATTTCACATATATATACACATACACACATACATATATATACACACATGCACACACACATACATATGTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGATGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCGTCTCGTGGGTTCAAGCGATTCTCCAGTTTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTT
|
GATATACTGCGCCAGCCACCACTGCACCGTCATGTTCCAGTACCGCATGCCATCGCGCACCCGCACGCAGAAATCTGTGCTGTAGCAGTCGATGTTGCGGATGGTCTCATAGTCATACTCCAAGGAAGCCGCCTTCTCCGGACTGGGGGGTGGAGGATGAGGGTGGGGGACAGACATGCAGCTCAGCCAGGCCCCCTCCCGACGCCTGCTAGTGTCCCAGCCCCGGATGCTAAGGAAGGGATCCTGGCCAGGCAATGGCCCTCTGGCTGTCAGACTTGCTAGGGCAGCAAGGGAGGGTGGCCCAGAGGGTGCCTGTAGGGTAGGAAGGTGGGTGGGCTGGGTGGTACAGTCCACTGACAATGGGGTTCTTCTTCTTTTGGTACCTAATGGGGCCCGCCACAGCCATGAAAAGCCTTGAAGGGCTATGGTTGCTAAGCTATGAGTCCTTTAGCAACCAAGCTCAGTATATTCAGAGAAGCCGCCAAGGATGGTCCCTTCTAAATTGTCGGACACTGCAGTTGCCAGGGAAGTTGTGGTTATCATCCCTAATAACAAGGTGCTTCACGGTTGCTAGGGAGATGTTCCAGGCGCCAGTGGGGTCCCCATGATCTTTGTTGCTAAGGAAAAGGCATTCCTTAGCAACAATGCCTAGGATGTTTAGAAAGGCTTTTAGGAAGGGGCTTTTTTCCTGGTCGCAGTGATTATTGGAGAAGTGTCACCTCTAGCAATACAGTGGCTCCCTCATCACTCATGTCGACAGCCCCAGCAGTGGGAAACACTGGCCCATATGAAGCCTTGGTGGCCTCTGATGACAGGAGGGGAGCCATCCTTTAGGAGTGAGGACCGAGCAGATTTAGAAAAACCTTCAATTCCTGCTTGGCTTTACTAGGGGGACATCCTCTCTCTAGCAGCTGGAGGTCAGGGCACGGTTATTAGGGCAGTGGTAACAAATTCCCGTGGGGGTGTCACTACCCCCACAACAGAATGGCAGTTTGTGACGACTAGGGGACAACCCTAGCAGGGAGTAGTAGTTCATCATTTACATCAACAGGCTGTTCCCCCAGCCGCAGTCCAAGCCCCTGGGGGAAGGCTGACTGCAGCTGTCAGGAACACAAGGGCAGTCTACTCCTGGTTGCCGGGGGTGCCATCTCCCTAGCAACACGGGGGCAATACTTCCTCAGCCACAAGAGAGTCCACAGCTATGGCCGTGCGACTTGCCTAGCAATGCAGGTGCCGGGGGGTGGAGCCTCTCTGGCAACAAGGGTCAACCCATAGTTTCCAGGGGGAGGTTTGGCTTCCTTAGCAACAGTGTAACTGTAGTTGGTAGGAATGGCGTGCCCTCTGCTGGGGAACAGCACTGGTCAGGGATTGGAAATTGCTATTTCCTTGCAGAGGGCTGCTGAGGGCTGCTATGTGAGGACATCCCACGGGGTGGAGCAGTGCTAGCTCCTAGCAACAAAGGGGCAGTGCAGGGAGTGCCGTATCTGCAGCAACAGAGCAAAACTTCTGGTAAAAAGGAGGTGAGCTACTGTTGCTAGGGATCCTGCTTCCCTAGCAAATAGTGGCGTTCTGTTGCTAGGGAACCGTTTCCCTAGCAACAGAGGGTGACCCACCACTAGCAAAGGATGGCATCCCCAGCAAGCAGGAACAATCTGGTTCTGGGGGGTGACACTTCTGTGGCAACAGAGGGGTGGCACAGGGTTGCTAAGTTACCACCTTTTCCTAGCGACAGGGGGCAGTTCACCACACTGCGGGGTGACAAGCGCTAGCAACAAGGGGCATCTGTCAGTACCAGGGATCTTTTCCCTACCGACAGGGGCTGGCAGGCCATGGTTGCCGAGGGGGCGACACTCTGCTCAAAAAGGTGGTGGCCCTGGCCCCTTGCTCCCCGCTCTCCTCCCGGCTAGGGGCAGAGCCAGCCCTTGGAGGTGGGGGCTGCTGGGTCTTGGGAAGCCTCCCTCGCGCCGCCTGACCTGCTGGGGGGTGGGCATTGGAGGGTGGGGCCGCCTCCGGCCCGGGCTTTGGCGGCCACGGGGTAGGCCCCAAAGCCGGCGGCAATCCAGGCCACGTAGAAGCGCATGCGGAAGGCGAAGAAGACGGGGATCATGTAGAAGAGGCGGGCGGGCAGCGGGCGGGCGTAGAAGGCGTCCTCGCGCACGGCCTCCAGCGGGAAGAGGTGAGAGGAGAGCAGGAACAGCAGGCCGAAGAGCGGGGCCGGCCAGGCGCGGCGCAGCAGGGGCCGCAGGCTGGGCACTGCCCCGGGGAAGGGCTGCTCCAGCCAGTCCAGGTAGGTGCGGTAGCGGAAGAACGGGCCTGTGGGGCGGGGAGGGAGGGCCGCGGTCAGACAGGCAGGTGGGCAGAGCTCAAGTCTGCAGGAGGAGGACAGGGAGCTTGGAAGGAAGGTGGGAAGAGGGAGTGAGAGGGGCAGAGACTGGGCGCCGGGGAGACCCCAAGGGTAGGGACTGAGACCCTGAGAGATGGGGATAAGGAACGAGAGACAGGGGGGACAAGAAACTCAGAGAGACAGAGACAGTAACAGAAAAACAGACAGAGGGGCCGGTGCGGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCCTAGCTGGGAGGACTGCTTGAGCCCAACAGTTGGACAGCAGCCTGGGCAAAACGGCAAGACCCCATCACTACAAAAAATAAAAATCAGCCAGGTGTGGAGGGCACCTGAATTCCCAGCTACTGGGGAGGCTGAGGCGGGAGGATCGTTTGAGCCCAGGCTGCAGTGAGCAGTGACTGAGCTACTGCATTCCAGCCAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGTGAAGAAGGGAAGAAAGAAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGAAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGAAGGGAAAAGGGAAGGACGGAGGGAAGGAGGAAGGAAAGAAACTAGGAGATAGCTGTGGCACTTTAGCTACAATATGATGGTGGTCTGGCCTAGGGAGGAAGCAGTGTGATTCACAGAAGGGACCGGGGTTAAAATTTTTATATGTTCACAAAGGCCGTATGTTTAGGTCAATGTAGCATGGGAAGATAAAAGGAAAAAAAAAACAAATTAAAATAAATAAATAAGACCACATGTTGTATGATTCCATTTGTAAGCGCAATGTCCAGAACAGGCAAATCTTTACAGATAGAAAGTCAATTACTGGTTACCAGGGATGGATGGAGGTTTGTGGGATGATGGACATGGGGTTTCTTTGCAGGGTATGAAACTGTTCTGAATATAACTACACAGTGGTCATGTCTGCACAACTCGGTGAATATACTAAAAATCAGGGAGTTGTATGTTTTGTGTTTTGTTTTTTTTCAGGAAATTAAAGAAGCCAAGAGTTGTATGTTTTAAGTGGATGAGTATGTGAATTAGAGTTCCCTAAAGCTGTTATTGGAAAAAAAACCTTTGATGAGGTAAACATTAATGAAAAATATTTTCTTTTTAAAATTTCACATATATATACACATACACACATACATATATATACACACATGCACACACACATACATATGTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGATGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCGTCTCGTGGGTTCAAGCGATTCTCCAGTTTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 309,914 |
Regarding the variant at chromosome 19 and position 54180936, affecting gene MBOAT7 (membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Intellectual_disability,_autosomal_recessive_57']
|
TCGATGTTGCGGATGGTCTCATAGTCATACTCCAAGGAAGCCGCCTTCTCCGGACTGGGGGGTGGAGGATGAGGGTGGGGGACAGACATGCAGCTCAGCCAGGCCCCCTCCCGACGCCTGCTAGTGTCCCAGCCCCGGATGCTAAGGAAGGGATCCTGGCCAGGCAATGGCCCTCTGGCTGTCAGACTTGCTAGGGCAGCAAGGGAGGGTGGCCCAGAGGGTGCCTGTAGGGTAGGAAGGTGGGTGGGCTGGGTGGTACAGTCCACTGACAATGGGGTTCTTCTTCTTTTGGTACCTAATGGGGCCCGCCACAGCCATGAAAAGCCTTGAAGGGCTATGGTTGCTAAGCTATGAGTCCTTTAGCAACCAAGCTCAGTATATTCAGAGAAGCCGCCAAGGATGGTCCCTTCTAAATTGTCGGACACTGCAGTTGCCAGGGAAGTTGTGGTTATCATCCCTAATAACAAGGTGCTTCACGGTTGCTAGGGAGATGTTCCAGGCGCCAGTGGGGTCCCCATGATCTTTGTTGCTAAGGAAAAGGCATTCCTTAGCAACAATGCCTAGGATGTTTAGAAAGGCTTTTAGGAAGGGGCTTTTTTCCTGGTCGCAGTGATTATTGGAGAAGTGTCACCTCTAGCAATACAGTGGCTCCCTCATCACTCATGTCGACAGCCCCAGCAGTGGGAAACACTGGCCCATATGAAGCCTTGGTGGCCTCTGATGACAGGAGGGGAGCCATCCTTTAGGAGTGAGGACCGAGCAGATTTAGAAAAACCTTCAATTCCTGCTTGGCTTTACTAGGGGGACATCCTCTCTCTAGCAGCTGGAGGTCAGGGCACGGTTATTAGGGCAGTGGTAACAAATTCCCGTGGGGGTGTCACTACCCCCACAACAGAATGGCAGTTTGTGACGACTAGGGGACAACCCTAGCAGGGAGTAGTAGTTCATCATTTACATCAACAGGCTGTTCCCCCAGCCGCAGTCCAAGCCCCTGGGGGAAGGCTGACTGCAGCTGTCAGGAACACAAGGGCAGTCTACTCCTGGTTGCCGGGGGTGCCATCTCCCTAGCAACACGGGGGCAATACTTCCTCAGCCACAAGAGAGTCCACAGCTATGGCCGTGCGACTTGCCTAGCAATGCAGGTGCCGGGGGGTGGAGCCTCTCTGGCAACAAGGGTCAACCCATAGTTTCCAGGGGGAGGTTTGGCTTCCTTAGCAACAGTGTAACTGTAGTTGGTAGGAATGGCGTGCCCTCTGCTGGGGAACAGCACTGGTCAGGGATTGGAAATTGCTATTTCCTTGCAGAGGGCTGCTGAGGGCTGCTATGTGAGGACATCCCACGGGGTGGAGCAGTGCTAGCTCCTAGCAACAAAGGGGCAGTGCAGGGAGTGCCGTATCTGCAGCAACAGAGCAAAACTTCTGGTAAAAAGGAGGTGAGCTACTGTTGCTAGGGATCCTGCTTCCCTAGCAAATAGTGGCGTTCTGTTGCTAGGGAACCGTTTCCCTAGCAACAGAGGGTGACCCACCACTAGCAAAGGATGGCATCCCCAGCAAGCAGGAACAATCTGGTTCTGGGGGGTGACACTTCTGTGGCAACAGAGGGGTGGCACAGGGTTGCTAAGTTACCACCTTTTCCTAGCGACAGGGGGCAGTTCACCACACTGCGGGGTGACAAGCGCTAGCAACAAGGGGCATCTGTCAGTACCAGGGATCTTTTCCCTACCGACAGGGGCTGGCAGGCCATGGTTGCCGAGGGGGCGACACTCTGCTCAAAAAGGTGGTGGCCCTGGCCCCTTGCTCCCCGCTCTCCTCCCGGCTAGGGGCAGAGCCAGCCCTTGGAGGTGGGGGCTGCTGGGTCTTGGGAAGCCTCCCTCGCGCCGCCTGACCTGCTGGGGGGTGGGCATTGGAGGGTGGGGCCGCCTCCGGCCCGGGCTTTGGCGGCCACGGGGTAGGCCCCAAAGCCGGCGGCAATGCAGCCGCACTCGGCGGCAATCCAGGCCACGTAGAAGCGCATGCGGAAGGCGAAGAAGACGGGGATCATGTAGAAGAGGCGGGCGGGCAGCGGGCGGGCGTAGAAGGCGTCCTCGCGCACGGCCTCCAGCGGGAAGAGGTGAGAGGAGAGCAGGAACAGCAGGCCGAAGAGCGGGGCCGGCCAGGCGCGGCGCAGCAGGGGCCGCAGGCTGGGCACTGCCCCGGGGAAGGGCTGCTCCAGCCAGTCCAGGTAGGTGCGGTAGCGGAAGAACGGGCCTGTGGGGCGGGGAGGGAGGGCCGCGGTCAGACAGGCAGGTGGGCAGAGCTCAAGTCTGCAGGAGGAGGACAGGGAGCTTGGAAGGAAGGTGGGAAGAGGGAGTGAGAGGGGCAGAGACTGGGCGCCGGGGAGACCCCAAGGGTAGGGACTGAGACCCTGAGAGATGGGGATAAGGAACGAGAGACAGGGGGGACAAGAAACTCAGAGAGACAGAGACAGTAACAGAAAAACAGACAGAGGGGCCGGTGCGGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCCTAGCTGGGAGGACTGCTTGAGCCCAACAGTTGGACAGCAGCCTGGGCAAAACGGCAAGACCCCATCACTACAAAAAATAAAAATCAGCCAGGTGTGGAGGGCACCTGAATTCCCAGCTACTGGGGAGGCTGAGGCGGGAGGATCGTTTGAGCCCAGGCTGCAGTGAGCAGTGACTGAGCTACTGCATTCCAGCCAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGTGAAGAAGGGAAGAAAGAAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGAAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGAAGGGAAAAGGGAAGGACGGAGGGAAGGAGGAAGGAAAGAAACTAGGAGATAGCTGTGGCACTTTAGCTACAATATGATGGTGGTCTGGCCTAGGGAGGAAGCAGTGTGATTCACAGAAGGGACCGGGGTTAAAATTTTTATATGTTCACAAAGGCCGTATGTTTAGGTCAATGTAGCATGGGAAGATAAAAGGAAAAAAAAAACAAATTAAAATAAATAAATAAGACCACATGTTGTATGATTCCATTTGTAAGCGCAATGTCCAGAACAGGCAAATCTTTACAGATAGAAAGTCAATTACTGGTTACCAGGGATGGATGGAGGTTTGTGGGATGATGGACATGGGGTTTCTTTGCAGGGTATGAAACTGTTCTGAATATAACTACACAGTGGTCATGTCTGCACAACTCGGTGAATATACTAAAAATCAGGGAGTTGTATGTTTTGTGTTTTGTTTTTTTTCAGGAAATTAAAGAAGCCAAGAGTTGTATGTTTTAAGTGGATGAGTATGTGAATTAGAGTTCCCTAAAGCTGTTATTGGAAAAAAAACCTTTGATGAGGTAAACATTAATGAAAAATATTTTCTTTTTAAAATTTCACATATATATACACATACACACATACATATATATACACACATGCACACACACATACATATGTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGATGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCGTCTCGTGGGTTCAAGCGATTCTCCAGTTTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTG
|
TCGATGTTGCGGATGGTCTCATAGTCATACTCCAAGGAAGCCGCCTTCTCCGGACTGGGGGGTGGAGGATGAGGGTGGGGGACAGACATGCAGCTCAGCCAGGCCCCCTCCCGACGCCTGCTAGTGTCCCAGCCCCGGATGCTAAGGAAGGGATCCTGGCCAGGCAATGGCCCTCTGGCTGTCAGACTTGCTAGGGCAGCAAGGGAGGGTGGCCCAGAGGGTGCCTGTAGGGTAGGAAGGTGGGTGGGCTGGGTGGTACAGTCCACTGACAATGGGGTTCTTCTTCTTTTGGTACCTAATGGGGCCCGCCACAGCCATGAAAAGCCTTGAAGGGCTATGGTTGCTAAGCTATGAGTCCTTTAGCAACCAAGCTCAGTATATTCAGAGAAGCCGCCAAGGATGGTCCCTTCTAAATTGTCGGACACTGCAGTTGCCAGGGAAGTTGTGGTTATCATCCCTAATAACAAGGTGCTTCACGGTTGCTAGGGAGATGTTCCAGGCGCCAGTGGGGTCCCCATGATCTTTGTTGCTAAGGAAAAGGCATTCCTTAGCAACAATGCCTAGGATGTTTAGAAAGGCTTTTAGGAAGGGGCTTTTTTCCTGGTCGCAGTGATTATTGGAGAAGTGTCACCTCTAGCAATACAGTGGCTCCCTCATCACTCATGTCGACAGCCCCAGCAGTGGGAAACACTGGCCCATATGAAGCCTTGGTGGCCTCTGATGACAGGAGGGGAGCCATCCTTTAGGAGTGAGGACCGAGCAGATTTAGAAAAACCTTCAATTCCTGCTTGGCTTTACTAGGGGGACATCCTCTCTCTAGCAGCTGGAGGTCAGGGCACGGTTATTAGGGCAGTGGTAACAAATTCCCGTGGGGGTGTCACTACCCCCACAACAGAATGGCAGTTTGTGACGACTAGGGGACAACCCTAGCAGGGAGTAGTAGTTCATCATTTACATCAACAGGCTGTTCCCCCAGCCGCAGTCCAAGCCCCTGGGGGAAGGCTGACTGCAGCTGTCAGGAACACAAGGGCAGTCTACTCCTGGTTGCCGGGGGTGCCATCTCCCTAGCAACACGGGGGCAATACTTCCTCAGCCACAAGAGAGTCCACAGCTATGGCCGTGCGACTTGCCTAGCAATGCAGGTGCCGGGGGGTGGAGCCTCTCTGGCAACAAGGGTCAACCCATAGTTTCCAGGGGGAGGTTTGGCTTCCTTAGCAACAGTGTAACTGTAGTTGGTAGGAATGGCGTGCCCTCTGCTGGGGAACAGCACTGGTCAGGGATTGGAAATTGCTATTTCCTTGCAGAGGGCTGCTGAGGGCTGCTATGTGAGGACATCCCACGGGGTGGAGCAGTGCTAGCTCCTAGCAACAAAGGGGCAGTGCAGGGAGTGCCGTATCTGCAGCAACAGAGCAAAACTTCTGGTAAAAAGGAGGTGAGCTACTGTTGCTAGGGATCCTGCTTCCCTAGCAAATAGTGGCGTTCTGTTGCTAGGGAACCGTTTCCCTAGCAACAGAGGGTGACCCACCACTAGCAAAGGATGGCATCCCCAGCAAGCAGGAACAATCTGGTTCTGGGGGGTGACACTTCTGTGGCAACAGAGGGGTGGCACAGGGTTGCTAAGTTACCACCTTTTCCTAGCGACAGGGGGCAGTTCACCACACTGCGGGGTGACAAGCGCTAGCAACAAGGGGCATCTGTCAGTACCAGGGATCTTTTCCCTACCGACAGGGGCTGGCAGGCCATGGTTGCCGAGGGGGCGACACTCTGCTCAAAAAGGTGGTGGCCCTGGCCCCTTGCTCCCCGCTCTCCTCCCGGCTAGGGGCAGAGCCAGCCCTTGGAGGTGGGGGCTGCTGGGTCTTGGGAAGCCTCCCTCGCGCCGCCTGACCTGCTGGGGGGTGGGCATTGGAGGGTGGGGCCGCCTCCGGCCCGGGCTTTGGCGGCCACGGGGTAGGCCCCAAAGCCGGCGGCAATGCAGCCGCACTCGGCGGCAATCCAGGCCACGTAGAAGCGCATGCGGAAGGCGAAGAAGACGGGGATCATGTAGAAGAGGCGGGCGGGCAGCGGGCGGGCAGCGGGCGGGCGTAGAAGGCGTCCTCGCGCACGGCCTCCAGCGGGAAGAGGTGAGAGGAGAGCAGGAACAGCAGGCCGAAGAGCGGGGCCGGCCAGGCGCGGCGCAGCAGGGGCCGCAGGCTGGGCACTGCCCCGGGGAAGGGCTGCTCCAGCCAGTCCAGGTAGGTGCGGTAGCGGAAGAACGGGCCTGTGGGGCGGGGAGGGAGGGCCGCGGTCAGACAGGCAGGTGGGCAGAGCTCAAGTCTGCAGGAGGAGGACAGGGAGCTTGGAAGGAAGGTGGGAAGAGGGAGTGAGAGGGGCAGAGACTGGGCGCCGGGGAGACCCCAAGGGTAGGGACTGAGACCCTGAGAGATGGGGATAAGGAACGAGAGACAGGGGGGACAAGAAACTCAGAGAGACAGAGACAGTAACAGAAAAACAGACAGAGGGGCCGGTGCGGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCCTAGCTGGGAGGACTGCTTGAGCCCAACAGTTGGACAGCAGCCTGGGCAAAACGGCAAGACCCCATCACTACAAAAAATAAAAATCAGCCAGGTGTGGAGGGCACCTGAATTCCCAGCTACTGGGGAGGCTGAGGCGGGAGGATCGTTTGAGCCCAGGCTGCAGTGAGCAGTGACTGAGCTACTGCATTCCAGCCAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGTGAAGAAGGGAAGAAAGAAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGAAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGAAGGGAAAAGGGAAGGACGGAGGGAAGGAGGAAGGAAAGAAACTAGGAGATAGCTGTGGCACTTTAGCTACAATATGATGGTGGTCTGGCCTAGGGAGGAAGCAGTGTGATTCACAGAAGGGACCGGGGTTAAAATTTTTATATGTTCACAAAGGCCGTATGTTTAGGTCAATGTAGCATGGGAAGATAAAAGGAAAAAAAAAACAAATTAAAATAAATAAATAAGACCACATGTTGTATGATTCCATTTGTAAGCGCAATGTCCAGAACAGGCAAATCTTTACAGATAGAAAGTCAATTACTGGTTACCAGGGATGGATGGAGGTTTGTGGGATGATGGACATGGGGTTTCTTTGCAGGGTATGAAACTGTTCTGAATATAACTACACAGTGGTCATGTCTGCACAACTCGGTGAATATACTAAAAATCAGGGAGTTGTATGTTTTGTGTTTTGTTTTTTTTCAGGAAATTAAAGAAGCCAAGAGTTGTATGTTTTAAGTGGATGAGTATGTGAATTAGAGTTCCCTAAAGCTGTTATTGGAAAAAAAACCTTTGATGAGGTAAACATTAATGAAAAATATTTTCTTTTTAAAATTTCACATATATATACACATACACACATACATATATATACACACATGCACACACACATACATATGTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGATGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCGTCTCGTGGGTTCAAGCGATTCTCCAGTTTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGA
|
pathogenic
| 309,915 |
Evaluate if the mutation on chromosome 19 at position 55014735 in GP6 (glycoprotein VI platelet) is benign or pathogenic. Disease name(s) if pathogenic?
|
benign
|
CTGCATATCAACATTCAGTATCACATTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCACGACTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTGAGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCAGTATCACATGTTTATACCCACAGATATTCGCAGCCGAGAATTTTCGGGTAATATAACTTGCTTCTTTTATTTTTGTTGTTGTTATTGTTCCCCTAAAGTTTATATTTGTTTTTTATTTTTATTTTCTTTTGAGGCAGGGTCTCACTCTGTCACCCAGGTTTGACAGCAGTGGTGCAATCATGGCTCACTGCAGCCTCAACCTCCCCGGGCTCAGGTGATCCCCAACCTCAGCCTCCTGAGTACCTGAGAGTAGGCATGTGGTACCACACCCAGCTAATTTTTTATATTTTTTGTATATGAGACAAGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCTTAGGCTCAAGCGATCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTAGGCTATACTGGTCTTTTTAAAATCTACTTAGTTTACTTGACCTCTAAAATTATTTTTCCTCTGTCTTCTGATAGCATCTCAGTATGATTTTCCACTATGTTAAGACGAGGAATTGACCCATTCTTACATTTGGAGGCTTCTCTAAGCAACTTTCCCATTCCCCCTTCACCCAAGCTGTGTGCTCACTAGCCCTGATTCACAGCCGTCGTCCTGGAACTTCTTGGTGCCATCCTTCTGTCTTTTCCCAAGTGACTCACCTACCTCAACCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACTGTGGCCAGCCATTCTTTTCCTTTTTTAAAACAATTTTTATCTTCTTTATTTTAAGTAGAGATGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATCCTCCTGCCTTGGCCTCCCACAGTGCTAGGATTACAGACATGATCCACTGCACTTGGCCCAGTGGTACAGTTTTACACTCATTAGATGGTCAAGAAATGCCTAAACGCTATAATAAATATAGAACTTTACCTTGAGAAGACCTAACATTTCCTTCAGAAAGTAAATATGAGAGGGGTGGAGACGGTGCATTATCTTATTTTTATGATTTTAAAAATGTATACAGAATTGTACATATTTATGGGGTGGACAGCAATATTGCAGTACATGTATACAACGTGCTATGATCAAATCAGGGTAATTGACATATTCATCCCTGTATTTTTTGAGACAAAGTCAGGCTTCGTCACCCGAGCTAGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCCATTCTCCCACCTCAGCCCCCTGAGTTGCTGGGAGTATAGGGATGCACCACCACACCTGGCTAATTTTTGTGTTTTTTTGTTTTGTTGGTAGAGATGAGGTTTCACCATGTTGCACAGGCTGATCTTGTTTTCTAATGTGAAGGGAAGCGGGCAACGTGCTAGTTTTACACTAAGGAAAATGAATGACATACCCAAACTGCCTGCAAGACCCGTTCTGAGAGACGAAAGGAGATTTGTTAGACCGCAGTGGGAGATGGAGTGAGGGTGAGAGTTTCTGGGGAAAACCAGACAAGAGCACAGAGGGCCAAAGGGAAGCACGGGAGGATTTTGCACAGAGGATGGAACAGAGTCAACCCTGAGAGCTGGGAACCTTAGAGATCCGTCTGGAGCCCATATTAGAGAGGTTGAAGAAAGAGGCCAGTATGTGGTCCAGCCAGGGTACCATGTCATCCACAGTGTGCAGGGAGGAGGATGGGGTCTCCACAGATTCCTTCCATCCCAAATGGAGGGTGCCCTCAGACAGAGAGGCAGACAGACAGACAGACACTGGCCGAACGGCTCCCTGATGGAACACCAGGAGGAGGCAGCATGGCCTCGTTTCCACAGCTGTAGCCTCTGCCCTCCTGCTTCCACGCTCCACACACGCCAGTCTTTGAGTCGCCTCCCATGCCATGATCCCTCCCTTGGATACGACCGTGCCTGGGGTTCAGCGGTCATGAACATAACCCGCGGCTGTGAACATCCTGTCGGCCTCCATCCTGACCCCCGTTTGATTTCCGGGTCAGCGGGAGGGGCGGGAGGGGCGGAAGCGGCCTCTGCACAGCCCTGCCCCTGTGCCGCAGGCGCTTCCTCCGGCTGTGCCAGTCCTCTGCCAGAAACCCCGCCAGGATTATTAGGATCACAGCCCCGAGGCATATCCGGACCAGGTTGCCCTTGGTGTAGTACTGGCGGGCAGGACCTGGAGGAATGAGGAGAGGCAGGAGCAGGTGAAAGAGCCCACCTCCAGGACCCCCTCCAAGCCACATCTGGGCTTCTCAGAGATCCTATTATTCTCTACTAGCTAGGGGATGCCGCTCACTTTCCTGGAGGGTCCCTCCCTTCCCGAGTAGGGGTCAGGGCCAGATGACCCCAATTCTCTAAGTAGCACCTCTCCCTCCTGTGCTCTCACAGGGCTCTGAGACAACTCCTCCCCAGACACAGATGCTGCCTCGTTATCTGATGCATTGCAAAAGAGAGGACAGTTATAAGGGGTGGGGAAGAGATGGAATCTCTCTTTCTCTGACCCTTTTTAAAATCTCAACCTTCCCACCTGATCTTAATGCCCAATTCTGAACCCCATACGCTGATATTCTGCCTTTACTCTACACACTGGAACCCAAGATCTGAGAGCTGCAGCCCCTGCGTAGACAAAGGAGTTGGCTTTGGTGAAGAGACGGGTGAGAAGGAAGGGGGTCTGGAGAGGATGACTTACTCACCAGCTGGAGAGTCTGACTCCTTTGGACTGGCGGTGATACTCCTAGAAGTCTCTGGGAACCAAACAAAGGCTAAGTGTGAAATGAAACCATATTCCCGCCCCCTGTCACTGTGCCTACTCCGAACACACACACACATGGGGAGGCACAATTCCACAGCATTTAAGAAAAGCATGGGCCGGGCACGGTGCCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTAGGAGGCTGGCTTGAGTCCAGGAGTTCAAGACCAACCTGAGCAACATAGAAAAACCCTATCTCTACAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGCCAGTAATCCCAGCTACTCAGTGGAGGCTGAGGCAGGAAGATCACCTGAGCCCTGGGAGGTTGAGGCTGCAGTGAGCCAGGATTGTACCACTGCACTCTAGCCTGGGAAACAGAGCGAGACCCTGTCCAAAAAAAAAAAAGCAAGAACTGTAGAGTCAGGCTGTCCTCCAGATTTGAACCCCAACTCTATCACCTATTAGATGTCAGTTATCTGGCAAGTGACTCAGCATCTGTGAGCCAGTTCCCCATGTGTCCAATAAAATTAACAAGATCCCTTATAGGTTGATGTGAAAGTCAAGATAATAATAATGGTAGAAATATAAAGCACCGTGCTTGACATATGAGCACCTCATACGTGCCAGCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTGGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCCCGATGTCGGCTCACTTCAACCTCCGCCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTCCGCCACCACGCCCAGCTAAGTTTTGTATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGTTGGTTTTGAACTCCTGACCTTGTGATCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCTCCAGCTCTCTTATTCCTCAAGTATCTCCTGAGACTCGCCAGGTACTCAGCCATGTGCTGGGCCATGGGAACCCAAATATTAATAAGACATTGTCAGGCCAGGCATGAC
|
CTGCATATCAACATTCAGTATCACATTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCACGACTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTGAGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCAGTATCACATGTTTATACCCACAGATATTCGCAGCCGAGAATTTTCGGGTAATATAACTTGCTTCTTTTATTTTTGTTGTTGTTATTGTTCCCCTAAAGTTTATATTTGTTTTTTATTTTTATTTTCTTTTGAGGCAGGGTCTCACTCTGTCACCCAGGTTTGACAGCAGTGGTGCAATCATGGCTCACTGCAGCCTCAACCTCCCCGGGCTCAGGTGATCCCCAACCTCAGCCTCCTGAGTACCTGAGAGTAGGCATGTGGTACCACACCCAGCTAATTTTTTATATTTTTTGTATATGAGACAAGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCTTAGGCTCAAGCGATCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTAGGCTATACTGGTCTTTTTAAAATCTACTTAGTTTACTTGACCTCTAAAATTATTTTTCCTCTGTCTTCTGATAGCATCTCAGTATGATTTTCCACTATGTTAAGACGAGGAATTGACCCATTCTTACATTTGGAGGCTTCTCTAAGCAACTTTCCCATTCCCCCTTCACCCAAGCTGTGTGCTCACTAGCCCTGATTCACAGCCGTCGTCCTGGAACTTCTTGGTGCCATCCTTCTGTCTTTTCCCAAGTGACTCACCTACCTCAACCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACTGTGGCCAGCCATTCTTTTCCTTTTTTAAAACAATTTTTATCTTCTTTATTTTAAGTAGAGATGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATCCTCCTGCCTTGGCCTCCCACAGTGCTAGGATTACAGACATGATCCACTGCACTTGGCCCAGTGGTACAGTTTTACACTCATTAGATGGTCAAGAAATGCCTAAACGCTATAATAAATATAGAACTTTACCTTGAGAAGACCTAACATTTCCTTCAGAAAGTAAATATGAGAGGGGTGGAGACGGTGCATTATCTTATTTTTATGATTTTAAAAATGTATACAGAATTGTACATATTTATGGGGTGGACAGCAATATTGCAGTACATGTATACAACGTGCTATGATCAAATCAGGGTAATTGACATATTCATCCCTGTATTTTTTGAGACAAAGTCAGGCTTCGTCACCCGAGCTAGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCCATTCTCCCACCTCAGCCCCCTGAGTTGCTGGGAGTATAGGGATGCACCACCACACCTGGCTAATTTTTGTGTTTTTTTGTTTTGTTGGTAGAGATGAGGTTTCACCATGTTGCACAGGCTGATCTTGTTTTCTAATGTGAAGGGAAGCGGGCAACGTGCTAGTTTTACACTAAGGAAAATGAATGACATACCCAAACTGCCTGCAAGACCCGTTCTGAGAGACGAAAGGAGATTTGTTAGACCGCAGTGGGAGATGGAGTGAGGGTGAGAGTTTCTGGGGAAAACCAGACAAGAGCACAGAGGGCCAAAGGGAAGCACGGGAGGATTTTGCACAGAGGATGGAACAGAGTCAACCCTGAGAGCTGGGAACCTTAGAGATCCGTCTGGAGCCCATATTAGAGAGGTTGAAGAAAGAGGCCAGTATGTGGTCCAGCCAGGGTACCATGTCATCCACAGTGTGCAGGGAGGAGGATGGGGTCTCCACAGATTCCTTCCATCCCAAATGGAGGGTGCCCTCAGACAGAGAGGCAGACAGACAGACAGACAGACACTGGCCGAACGGCTCCCTGATGGAACACCAGGAGGAGGCAGCATGGCCTCGTTTCCACAGCTGTAGCCTCTGCCCTCCTGCTTCCACGCTCCACACACGCCAGTCTTTGAGTCGCCTCCCATGCCATGATCCCTCCCTTGGATACGACCGTGCCTGGGGTTCAGCGGTCATGAACATAACCCGCGGCTGTGAACATCCTGTCGGCCTCCATCCTGACCCCCGTTTGATTTCCGGGTCAGCGGGAGGGGCGGGAGGGGCGGAAGCGGCCTCTGCACAGCCCTGCCCCTGTGCCGCAGGCGCTTCCTCCGGCTGTGCCAGTCCTCTGCCAGAAACCCCGCCAGGATTATTAGGATCACAGCCCCGAGGCATATCCGGACCAGGTTGCCCTTGGTGTAGTACTGGCGGGCAGGACCTGGAGGAATGAGGAGAGGCAGGAGCAGGTGAAAGAGCCCACCTCCAGGACCCCCTCCAAGCCACATCTGGGCTTCTCAGAGATCCTATTATTCTCTACTAGCTAGGGGATGCCGCTCACTTTCCTGGAGGGTCCCTCCCTTCCCGAGTAGGGGTCAGGGCCAGATGACCCCAATTCTCTAAGTAGCACCTCTCCCTCCTGTGCTCTCACAGGGCTCTGAGACAACTCCTCCCCAGACACAGATGCTGCCTCGTTATCTGATGCATTGCAAAAGAGAGGACAGTTATAAGGGGTGGGGAAGAGATGGAATCTCTCTTTCTCTGACCCTTTTTAAAATCTCAACCTTCCCACCTGATCTTAATGCCCAATTCTGAACCCCATACGCTGATATTCTGCCTTTACTCTACACACTGGAACCCAAGATCTGAGAGCTGCAGCCCCTGCGTAGACAAAGGAGTTGGCTTTGGTGAAGAGACGGGTGAGAAGGAAGGGGGTCTGGAGAGGATGACTTACTCACCAGCTGGAGAGTCTGACTCCTTTGGACTGGCGGTGATACTCCTAGAAGTCTCTGGGAACCAAACAAAGGCTAAGTGTGAAATGAAACCATATTCCCGCCCCCTGTCACTGTGCCTACTCCGAACACACACACACATGGGGAGGCACAATTCCACAGCATTTAAGAAAAGCATGGGCCGGGCACGGTGCCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTAGGAGGCTGGCTTGAGTCCAGGAGTTCAAGACCAACCTGAGCAACATAGAAAAACCCTATCTCTACAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGCCAGTAATCCCAGCTACTCAGTGGAGGCTGAGGCAGGAAGATCACCTGAGCCCTGGGAGGTTGAGGCTGCAGTGAGCCAGGATTGTACCACTGCACTCTAGCCTGGGAAACAGAGCGAGACCCTGTCCAAAAAAAAAAAAGCAAGAACTGTAGAGTCAGGCTGTCCTCCAGATTTGAACCCCAACTCTATCACCTATTAGATGTCAGTTATCTGGCAAGTGACTCAGCATCTGTGAGCCAGTTCCCCATGTGTCCAATAAAATTAACAAGATCCCTTATAGGTTGATGTGAAAGTCAAGATAATAATAATGGTAGAAATATAAAGCACCGTGCTTGACATATGAGCACCTCATACGTGCCAGCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTGGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCCCGATGTCGGCTCACTTCAACCTCCGCCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTCCGCCACCACGCCCAGCTAAGTTTTGTATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGTTGGTTTTGAACTCCTGACCTTGTGATCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCTCCAGCTCTCTTATTCCTCAAGTATCTCCTGAGACTCGCCAGGTACTCAGCCATGTGCTGGGCCATGGGAACCCAAATATTAATAAGACATTGTCAGGCCAGGCA
|
benign
| 310,010 |
A genetic alteration at chromosome 19, position 55133961, in gene TNNT1 (troponin T1, slow skeletal type)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
benign
|
CCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCGGTGAGCCGAGATCTTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGGCATGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGAGGATCAGCTGAGGTCAGGAGTCTGAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGTTGGTGGGCACCTGTAGTCCCAGCTGCTTGGGAGGCTGAGACAGGAAAATTGCTTGAACCCGGGAGGTGGAGGTTGCGGTGAGCCGAGATCATGCCACTGCACTCCAGGCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGATGCTGCGGCCGGTGCAGTGATTCACACCTAAAATCCCAACACTTTCAGAGGCTGTTGTGGGAGGATCACTTGAGCCCAGGAATTCAAGGCTGCAGTGAGCCGTGATCACGCCACTGCACTGCAGCCTGGGCGACAGAGCAAGACCCTGTCTCTAAAAATTAAAAATAAAAATGCTACTATGAACATTCATGTACAAGCTTTTGTGTGGACAAAGGTTCTTGGTTCTCTTGGATATACATCCAGGAGGGGAACTGCTGGGTCCTGCAGAAATGCTTTCACTTGTTGAGGAACCGCCAGGCTGCTTGCAAAGCTGTTGCATTTTCCATTCCCACCAGCAGTGTGTGAAGGTTCAGCCTGCCGTACTTTAATGATTATTGGTGACACTCTTTCAAGTAACTTGTTGGTAATAAGAAGTCAATTAACCAGGAGAGACCAGCTGCATCTCAACCATAATAACATCAGAGAACCCAGCGGGTGTCTGAGGGGAGCGTTTATTTCAAGCTACCGATGGGACAAACACTCCCAGGCTTCCCAGGTGCCACTGTCCGGGGCGGCATCCTCACTTCCAGCGGCCTCCAACGCGGCCCTTCCCTGCCCCCTTCCGGCTGTAGAAGAATGAGGTGGTATCAGGAAAAAGGGGCCCCTCCAGTCTCTGAAATGGGCCCCAGGCCCTCAATTCAGGAAGCCCATTCCCCAAAATATTAGCCCTCCCTGCCCAGAGGAAGCAGTGAGCAAAACAACTGTCACCTCTTTTGGGTTCTATGACTGGGGGGCAGCGGCTGGTGGTCAAAGCCTCGCTGACATGTGGGAGCTGATATTTGGGGGCGAGTGCAGGGTGTTCATGGGGGAGCTGATGAATGTTTATGAGTCAGGGGCCAGGGTGGGGGGAGGAAGGGTTGGATGATCTGGGCATGGGTGGGTAACACGCAGGAAGGGCTGGGGTGAAAGAGACAGGAAATGGGAGAAGAGGAGAAGGGAGAGGGAGAGGAGGGAGGAAGGAAGAGGGAGTGGAGAAACAGAGAGATTCAGGGAAGACCCTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCACGCTTGGTGGCGCGCACCTGTAATCCCAGCTACTCAGGGGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGATGGAAGTTGCAGTGAGCTGAGATCACTCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACGCAGTCTCAATAAAAAAAAAAAAAAAGAAAGAAAAAGAAAAAGGAACTGAGACCCAGGATTCCGAGAGCAGAGAGAGGAGGACAGAGAAGGAAGGACAAAGAGAAAGGGGCAGAAACTCAGGCAGTGGGGGATGGAGCCCACAGAGGGAGGGAAAGAGGCCTGAGAGTCAGCGGGAGGGTAGGGACAAGAGCAAGGGCTTGAGACGGTCACACTCACAACTTCTGGGCGTGGCTGATGCGGTTGTACAGCACGTTGATCTGCGGAGGCAGAAGACAGATGCTGGGACAGCCGGTGGGGACGTGGGGACGGGCCACCCACCCCTGCCTGGAGTTTGCTGGTCCCTCCCAGCCCAGCCCTGCCCTCTCTCCCTCCCTCCCTGCGGAGCTGGGTCTCACCTCATATTTCTGCTGTTTCAGCTTCGCCATCAGGTCGAACTTCTCAGACTCCAGCTGGTGGATCCAGTCCGACAGCTCCTGGGCTTTCTCCCTGGCAGGGCAGGAGGGCTGTGATGGAGGCAGCCAGGCAGACCGGGCCCTAGGCCCAGGGACGGAGAGGAACTTGGGCCCAGAGAGGTTGTGGGAACCACCCAAAGCCACACAGCGAGACTGTGAGTTCAGCGTTGTCGGCACCATTTTGTTCATATTTGAGGCCGAGAGTTTTAAAATCTGTGCCCACTTTCTCCACATCCGAGCTGGAGCTCTCGCATTTCCCAAGGGGAGAGAAGGGTGTCATGATTAAGAGACCAGGCTCGGCACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCCAGCAGAACACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAAAGAGAGACCCCGTCTCTGCTAAAAATAATTAAAAAAATTAGCCAGGCAGGGTGTTTCCGGCTACTTGGGAGGCTGAGGCAGAAGGAACCTGGGAGGTCAAAGCTGCAGTGAGCTGTGATTGCACCACTGTATTCCTGCCTGGCAACAGAGCAAGACAAAAGAAAGGAAAGAAAAGGAGAAAGGAAAGTGGGGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGGGAAGAAGAAGGGGAGGGAGGGAGGGGAGGGGAGACGAGGGGAGGGGAGGGGAGGGGAGACGAGGGGAAGGGAGGGGAGGGGAGAGGGGAAAGAAAAGGAAGAAAGAAAAGACCGAGCCCAGGCTCTGCAGTTAGAAGCCCCTGGTTCAATTCCCAGCCATGCCATTCTCTGGTTTATGAATATGTCACATGACTTCCTTTAGAATCCTGTTTCCTTCTCTAGAAAATATGGAAATAAAACTGTGGAAGAGATGGCTGCTTGCCTACCTGTTAGCCCTTCTCCCTTTCTTCTAGAAATAGCCTCTTGTGCATTAGGCTGAGTTGAAAAACTACTTTGCCCAATCTCCCTTGCAGGTAGGGGTGGCTACTCAGACGAAAGCAGGTCACTGGGTGCGGCTTCCAAAAGAGACTGTGTGGCTCTTCTCTTGCGTCTTCTTTCTGCTGCTTGGATCATCCATGTGAGGCTGGAGCTAGCAGCTATATTGGACTAAGTGATTTTGAGGATGGAAATATTGGGCTAAAAGTAGTGAGTGAAGCAGAAAACATAGGAGTCTGGTCTCTGATTTTGTAGAATTGCCATACCAGCCCTGGACTAAAACCTACCTTTCCTTCCTTCCTTCCTTCCTTCTTTTCTTTCTTTTCTTTTTTTTTTGATAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGACACCATCACAGCTCACCGCAGTCTCAACCTCTCAGGCTCTAGTGATCCTCTCACCTCAGCCTTTTTTTTTTTTTTTTTTTAAGACAGAGTTTCGCTCATGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACCGCAACCTCCGCCTCCTGGGTTCAGTGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCATCATATTGGTCAGGCTGGTCTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCGCCCGCCCGGCCAACAATACTTTACATGAACCATGTGCACAGGAAGGAGGGCCCACAGCGCCCCCCAGAGGGCTTCCAGGAGCCTGCTGTGCACATCCTTTCCCGTCTCCACACTCAGTGTCCCCACACGGGTAGTTTGAAAGGAGCAAGGTGGAAGTATTTACGCCCTGGGAATGGGCATGTGCTAAATCTAGAC
|
CCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCGGTGAGCCGAGATCTTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGGCATGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGAGGATCAGCTGAGGTCAGGAGTCTGAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGTTGGTGGGCACCTGTAGTCCCAGCTGCTTGGGAGGCTGAGACAGGAAAATTGCTTGAACCCGGGAGGTGGAGGTTGCGGTGAGCCGAGATCATGCCACTGCACTCCAGGCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGATGCTGCGGCCGGTGCAGTGATTCACACCTAAAATCCCAACACTTTCAGAGGCTGTTGTGGGAGGATCACTTGAGCCCAGGAATTCAAGGCTGCAGTGAGCCGTGATCACGCCACTGCACTGCAGCCTGGGCGACAGAGCAAGACCCTGTCTCTAAAAATTAAAAATAAAAATGCTACTATGAACATTCATGTACAAGCTTTTGTGTGGACAAAGGTTCTTGGTTCTCTTGGATATACATCCAGGAGGGGAACTGCTGGGTCCTGCAGAAATGCTTTCACTTGTTGAGGAACCGCCAGGCTGCTTGCAAAGCTGTTGCATTTTCCATTCCCACCAGCAGTGTGTGAAGGTTCAGCCTGCCGTACTTTAATGATTATTGGTGACACTCTTTCAAGTAACTTGTTGGTAATAAGAAGTCAATTAACCAGGAGAGACCAGCTGCATCTCAACCATAATAACATCAGAGAACCCAGCGGGTGTCTGAGGGGAGCGTTTATTTCAAGCTACCGATGGGACAAACACTCCCAGGCTTCCCAGGTGCCACTGTCCGGGGCGGCATCCTCACTTCCAGCGGCCTCCAACGCGGCCCTTCCCTGCCCCCTTCCGGCTGTAGAAGAATGAGGTGGTATCAGGAAAAAGGGGCCCCTCCAGTCTCTGAAATGGGCCCCAGGCCCTCAATTCAGGAAGCCCATTCCCCAAAATATTAGCCCTCCCTGCCCAGAGGAAGCAGTGAGCAAAACAACTGTCACCTCTTTTGGGTTCTATGACTGGGGGGCAGCGGCTGGTGGTCAAAGCCTCGCTGACATGTGGGAGCTGATATTTGGGGGCGAGTGCAGGGTGTTCATGGGGGAGCTGATGAATGTTTATGAGTCAGGGGCCAGGGTGGGGGGAGGAAGGGTTGGATGATCTGGGCATGGGTGGGTAACACGCAGGAAGGGCTGGGGTGAAAGAGACAGGAAATGGGAGAAGAGGAGAAGGGAGAGGGAGAGGAGGGAGGAAGGAAGAGGGAGTGGAGAAACAGAGAGATTCAGGGAAGACCCTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCACGCTTGGTGGCGCGCACCTGTAATCCCAGCTACTCAGGGGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGATGGAAGTTGCAGTGAGCTGAGATCACTCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACGCAGTCTCAATAAAAAAAAAAAAAAAGAAAGAAAAAGAAAAAGGAACTGAGACCCAGGATTCCGAGAGCAGAGAGAGGAGGACAGAGAAGGAAGGACAAAGAGAAAGGGGCAGAAACTCAGGCAGTGGGGGATGGAGCCCACAGAGGGAGGGAAAGAGGCCTGAGAGTCAGCGGGAGGGTAGGGACAAGAGCAAGGGCTTGAGACGGTCACACTCACAACTTCTGGGCGTGGCTGATGCGGTTGTACAGCACGTTGATCTGCGGAGGCAGAAGACAGATGCTGGGACAGCCGGTGGGGACGGGCCACCCACCCCTGCCTGGAGTTTGCTGGTCCCTCCCAGCCCAGCCCTGCCCTCTCTCCCTCCCTCCCTGCGGAGCTGGGTCTCACCTCATATTTCTGCTGTTTCAGCTTCGCCATCAGGTCGAACTTCTCAGACTCCAGCTGGTGGATCCAGTCCGACAGCTCCTGGGCTTTCTCCCTGGCAGGGCAGGAGGGCTGTGATGGAGGCAGCCAGGCAGACCGGGCCCTAGGCCCAGGGACGGAGAGGAACTTGGGCCCAGAGAGGTTGTGGGAACCACCCAAAGCCACACAGCGAGACTGTGAGTTCAGCGTTGTCGGCACCATTTTGTTCATATTTGAGGCCGAGAGTTTTAAAATCTGTGCCCACTTTCTCCACATCCGAGCTGGAGCTCTCGCATTTCCCAAGGGGAGAGAAGGGTGTCATGATTAAGAGACCAGGCTCGGCACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCCAGCAGAACACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAAAGAGAGACCCCGTCTCTGCTAAAAATAATTAAAAAAATTAGCCAGGCAGGGTGTTTCCGGCTACTTGGGAGGCTGAGGCAGAAGGAACCTGGGAGGTCAAAGCTGCAGTGAGCTGTGATTGCACCACTGTATTCCTGCCTGGCAACAGAGCAAGACAAAAGAAAGGAAAGAAAAGGAGAAAGGAAAGTGGGGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGGGAAGAAGAAGGGGAGGGAGGGAGGGGAGGGGAGACGAGGGGAGGGGAGGGGAGGGGAGACGAGGGGAAGGGAGGGGAGGGGAGAGGGGAAAGAAAAGGAAGAAAGAAAAGACCGAGCCCAGGCTCTGCAGTTAGAAGCCCCTGGTTCAATTCCCAGCCATGCCATTCTCTGGTTTATGAATATGTCACATGACTTCCTTTAGAATCCTGTTTCCTTCTCTAGAAAATATGGAAATAAAACTGTGGAAGAGATGGCTGCTTGCCTACCTGTTAGCCCTTCTCCCTTTCTTCTAGAAATAGCCTCTTGTGCATTAGGCTGAGTTGAAAAACTACTTTGCCCAATCTCCCTTGCAGGTAGGGGTGGCTACTCAGACGAAAGCAGGTCACTGGGTGCGGCTTCCAAAAGAGACTGTGTGGCTCTTCTCTTGCGTCTTCTTTCTGCTGCTTGGATCATCCATGTGAGGCTGGAGCTAGCAGCTATATTGGACTAAGTGATTTTGAGGATGGAAATATTGGGCTAAAAGTAGTGAGTGAAGCAGAAAACATAGGAGTCTGGTCTCTGATTTTGTAGAATTGCCATACCAGCCCTGGACTAAAACCTACCTTTCCTTCCTTCCTTCCTTCCTTCTTTTCTTTCTTTTCTTTTTTTTTTGATAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGACACCATCACAGCTCACCGCAGTCTCAACCTCTCAGGCTCTAGTGATCCTCTCACCTCAGCCTTTTTTTTTTTTTTTTTTTAAGACAGAGTTTCGCTCATGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACCGCAACCTCCGCCTCCTGGGTTCAGTGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCATCATATTGGTCAGGCTGGTCTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCGCCCGCCCGGCCAACAATACTTTACATGAACCATGTGCACAGGAAGGAGGGCCCACAGCGCCCCCCAGAGGGCTTCCAGGAGCCTGCTGTGCACATCCTTTCCCGTCTCCACACTCAGTGTCCCCACACGGGTAGTTTGAAAGGAGCAAGGTGGAAGTATTTACGCCCTGGGAATGGGCATGTGCTAAATCTAGACNNNNNNNN
|
benign
| 310,064 |
Variant on chromosome 19, at position 55137107, affecting TNNT1 (troponin T1, slow skeletal type): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Nemaline_myopathy_5']
|
TCTTCTAGAAATAGCCTCTTGTGCATTAGGCTGAGTTGAAAAACTACTTTGCCCAATCTCCCTTGCAGGTAGGGGTGGCTACTCAGACGAAAGCAGGTCACTGGGTGCGGCTTCCAAAAGAGACTGTGTGGCTCTTCTCTTGCGTCTTCTTTCTGCTGCTTGGATCATCCATGTGAGGCTGGAGCTAGCAGCTATATTGGACTAAGTGATTTTGAGGATGGAAATATTGGGCTAAAAGTAGTGAGTGAAGCAGAAAACATAGGAGTCTGGTCTCTGATTTTGTAGAATTGCCATACCAGCCCTGGACTAAAACCTACCTTTCCTTCCTTCCTTCCTTCCTTCTTTTCTTTCTTTTCTTTTTTTTTTGATAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGACACCATCACAGCTCACCGCAGTCTCAACCTCTCAGGCTCTAGTGATCCTCTCACCTCAGCCTTTTTTTTTTTTTTTTTTTAAGACAGAGTTTCGCTCATGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACCGCAACCTCCGCCTCCTGGGTTCAGTGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCATCATATTGGTCAGGCTGGTCTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCGCCCGCCCGGCCAACAATACTTTACATGAACCATGTGCACAGGAAGGAGGGCCCACAGCGCCCCCCAGAGGGCTTCCAGGAGCCTGCTGTGCACATCCTTTCCCGTCTCCACACTCAGTGTCCCCACACGGGTAGTTTGAAAGGAGCAAGGTGGAAGTATTTACGCCCTGGGAATGGGCATGTGCTAAATCTAGACATTTTGCCCCCTGGAGAGCAGCTGTTAAACATTTACCATGAAGCCACTTTACAGCACACTAGCAAAGAGTACGGACTATTGCACCAGACTGCCGGGTTCAAATCCCAGCTCTTCCACTTGCTAGCTGTGCAACCCTGGAAGGGTTACTTAACCTCTCTGTGCCTCAGGTTCCTCACTATTAACACAAGGATAATAATAGTATCTACCTCACAGGGTTGTAAACCCTCCACAGGAAGCTGCTGCTGTAATTATTATTTTTTTAAGGATGGGGTCTCACTACATTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGCAATCCTCCCATCTTAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGGGCCCAGCCTGTAATTATTATTACTATCTCACTGCCCTTTCACAGCTCTGTGAGGTCAATTTTGTGATTATATCCTTGTTCTGCCAATGAGGAATGGGAGCCCCAGAGAAGTCAGATAACGTGCGCAAGATCACAAAGTAGCCGGCAAAGCTGGCACTGAGCCCTGGGCAGGGGCTTTCGGTGCAAGCGGCAAACCCGATCACGGCGCCACTCTGGGGTGGTTGAAGTTTCTGAGCCACAGCCCAGGCCAGAGAACATGGAGAAACAGGCGGGCTCCTGAAGGCAAGCCCCCACCAGCCTGCCGTCCTGTAGCTTATCATGAGAGGCAGGCTGTCTTGGCTATAGATGCGAGGGACTCAGCTGGAAAATTCTCACCCGCATTCCTGGCTTGAATTTAGGTAAAAGGCACAGCCCATCCTGAGCTCCAAGGCACATCACGGAGTTAACAAAATCTCCTAAACTTGGGGGAGGGAAGTCATCTTGTCTGGCTTCCTTGGTAACACCTGTCAGATGCTACAGGCCACGGCAGCCACGAAAAGTGGGTTCAGTGACATGTTTCACAAAGAAGGCAGCAGAGGCCCAGAGAGGGGAAGCCACTTGCCCAAAGTCACATAGCACTGGAGCTGAGACCCGGAGTATCTGCCCACCCAGATCTGGGTGTGAGCTCCTTTATCCCCCTGTCTCACACCCAGGCCCCTACACCCCGAGCCCCCCACAGCACCTACCGGAGCTGTTCCTCCCCCATGTAGTCAATGTCCAGAGGCTTCTTACGCTCGGAGAGGATGCGCACCTTCATCTCCCGCCCCGTCTGCCGCTTACCACGCTTCTGTTCTGCCTGAGGGTGGGGGAGGCGGAACAGTAAACTGGGGGCCACATCCCACAGAGCACTGCCGTGTCGGGACCCACACGTCGGATCCCACAGACCATTTCCATGTTGGGACCACAGGTCTGCACCCCAGGCCCATCTCCTTCAGACCTAGGAGTCCAGCCCCACTCCCTCCTCCCTCAGATTCAGGAGGAGTCCAGACCCCCAGTCCCTTCTCTTAGACTGAGTCCAAGCCCCAGACCCTCTCGCATTAGGAACCAGAAGTCTGGCCCCCAGCCCCTCCTCCCTCAGCCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGATTGCAGGCCCCGAGCCCCTCCTCCCTCAGACCCAGGAGTGCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCTCAGACTGAGTCCAAGCCCCAGACCCTCTCGCATTAGGAACCAGAAGTCTGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGCGTCCAGGCCCTCAGCCCCTCCTCCCTCAGCCCAGGAGTCCAGGACCCCAGCCCCTCCTCCCTCAGACCCAGGCGTCCAGACCCCAGCTCCTCCTCCCTCAGACCCAGGAGTTCAGGGCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGGCCTCAGCCCCTCCTCCGTTAGGAACCAGAGGTCTGGCCCCCAGCCCCTGCCCCCTCAGAACTCAGACCTCAGGCTCCTGCAGGCTGACTCACCTTGACCAGGTAGCCGCCAAAATGGGCCCCCATGTTGGACAGCACCTTCTTTTTCTTGGCATCATCCTCTGCCCGCTTCTTGGCCTCTTCCTCTTCCTTCCTCATCTTCTCCTCCTGTGGGAAGTAAGGGGTTAACCTCATGGACTCCCCTGTAGGACTGAGGGAGGAGGGCCCTGGGATGTGGAACTGGGGCACAGGGATCAGCAGACCCAGTGCCGCAGAGGCTGCTGGGACATCAGAACCAGCAGAAACGCAGGGGTACCCACTCCCGGCCCTGCCACGTCTCCCCGTGTGACCACCTACAAGTCCCTTCCCCTCTGTTTTTTTTTTTTTTTGAGACGGACTCTCGCTCTGTTGCTCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCAATTCTCCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCGCGCCCAACTAATTTTTGTATTTTTAGTGGAGACGCGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTACTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCGGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCCTTCTCTGGGTCTTAATATCCTCCCAGAAAAAATCGAAATGAAGGAGAAGAAGAAATGCCTGCTTTTTCTGCATGTCTCCACCCTGAAATAGCCGATAGTGAACTCTGCTGTACGACCTCACTCCAGATGCTCAGCCTGTCTGGGCCACAGTCGCCCTTAGTCTCAGGATATGAGAATGTCTGTTTTGAGGGGGTCAAGGGAAGTAACTGGTGATAAGACCAGGGACTGGGGAGATTAAAGAGGCTGATGGCCTTGAGCCTGAGGAAGGGGTTCTGGAATATTGAGCGAAGGCATTACGACATTCGAGAAACTCTTCATTGAATGTTCCAGAAACAGTGGTTTGTCCAGGCTGAGCCCCGTCTCCTTATGGTGGACATGAGGCTTTTTGTACACCCAGCACTCCGTACCTGAATTAGTTTCCTTTCTGTTTTTGAGATGGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGTGCAATCTCTGCTCTGTTCACTGCAACCCCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAAGTAACTGGGATTACAGACATGTGCCACC
|
TCTTCTAGAAATAGCCTCTTGTGCATTAGGCTGAGTTGAAAAACTACTTTGCCCAATCTCCCTTGCAGGTAGGGGTGGCTACTCAGACGAAAGCAGGTCACTGGGTGCGGCTTCCAAAAGAGACTGTGTGGCTCTTCTCTTGCGTCTTCTTTCTGCTGCTTGGATCATCCATGTGAGGCTGGAGCTAGCAGCTATATTGGACTAAGTGATTTTGAGGATGGAAATATTGGGCTAAAAGTAGTGAGTGAAGCAGAAAACATAGGAGTCTGGTCTCTGATTTTGTAGAATTGCCATACCAGCCCTGGACTAAAACCTACCTTTCCTTCCTTCCTTCCTTCCTTCTTTTCTTTCTTTTCTTTTTTTTTTGATAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGACACCATCACAGCTCACCGCAGTCTCAACCTCTCAGGCTCTAGTGATCCTCTCACCTCAGCCTTTTTTTTTTTTTTTTTTTAAGACAGAGTTTCGCTCATGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACCGCAACCTCCGCCTCCTGGGTTCAGTGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCATCATATTGGTCAGGCTGGTCTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCGCCCGCCCGGCCAACAATACTTTACATGAACCATGTGCACAGGAAGGAGGGCCCACAGCGCCCCCCAGAGGGCTTCCAGGAGCCTGCTGTGCACATCCTTTCCCGTCTCCACACTCAGTGTCCCCACACGGGTAGTTTGAAAGGAGCAAGGTGGAAGTATTTACGCCCTGGGAATGGGCATGTGCTAAATCTAGACATTTTGCCCCCTGGAGAGCAGCTGTTAAACATTTACCATGAAGCCACTTTACAGCACACTAGCAAAGAGTACGGACTATTGCACCAGACTGCCGGGTTCAAATCCCAGCTCTTCCACTTGCTAGCTGTGCAACCCTGGAAGGGTTACTTAACCTCTCTGTGCCTCAGGTTCCTCACTATTAACACAAGGATAATAATAGTATCTACCTCACAGGGTTGTAAACCCTCCACAGGAAGCTGCTGCTGTAATTATTATTTTTTTAAGGATGGGGTCTCACTACATTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGCAATCCTCCCATCTTAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGGGCCCAGCCTGTAATTATTATTACTATCTCACTGCCCTTTCACAGCTCTGTGAGGTCAATTTTGTGATTATATCCTTGTTCTGCCAATGAGGAATGGGAGCCCCAGAGAAGTCAGATAACGTGCGCAAGATCACAAAGTAGCCGGCAAAGCTGGCACTGAGCCCTGGGCAGGGGCTTTCGGTGCAAGCGGCAAACCCGATCACGGCGCCACTCTGGGGTGGTTGAAGTTTCTGAGCCACAGCCCAGGCCAGAGAACATGGAGAAACAGGCGGGCTCCTGAAGGCAAGCCCCCACCAGCCTGCCGTCCTGTAGCTTATCATGAGAGGCAGGCTGTCTTGGCTATAGATGCGAGGGACTCAGCTGGAAAATTCTCACCCGCATTCCTGGCTTGAATTTAGGTAAAAGGCACAGCCCATCCTGAGCTCCAAGGCACATCACGGAGTTAACAAAATCTCCTAAACTTGGGGGAGGGAAGTCATCTTGTCTGGCTTCCTTGGTAACACCTGTCAGATGCTACAGGCCACGGCAGCCACGAAAAGTGGGTTCAGTGACATGTTTCACAAAGAAGGCAGCAGAGGCCCAGAGAGGGGAAGCCACTTGCCCAAAGTCACATAGCACTGGAGCTGAGACCCGGAGTATCTGCCCACCCAGATCTGGGTGTGAGCTCCTTTATCCCCCTGTCTCACACCCAGGCCCCTACACCCCGAGCCCCCCACAGCACCTACCGGAGCACTACTGTTCCTCCCCCATGTAGTCAATGTCCAGAGGCTTCTTACGCTCGGAGAGGATGCGCACCTTCATCTCCCGCCCCGTCTGCCGCTTACCACGCTTCTGTTCTGCCTGAGGGTGGGGGAGGCGGAACAGTAAACTGGGGGCCACATCCCACAGAGCACTGCCGTGTCGGGACCCACACGTCGGATCCCACAGACCATTTCCATGTTGGGACCACAGGTCTGCACCCCAGGCCCATCTCCTTCAGACCTAGGAGTCCAGCCCCACTCCCTCCTCCCTCAGATTCAGGAGGAGTCCAGACCCCCAGTCCCTTCTCTTAGACTGAGTCCAAGCCCCAGACCCTCTCGCATTAGGAACCAGAAGTCTGGCCCCCAGCCCCTCCTCCCTCAGCCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGATTGCAGGCCCCGAGCCCCTCCTCCCTCAGACCCAGGAGTGCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCTCAGACTGAGTCCAAGCCCCAGACCCTCTCGCATTAGGAACCAGAAGTCTGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGCGTCCAGGCCCTCAGCCCCTCCTCCCTCAGCCCAGGAGTCCAGGACCCCAGCCCCTCCTCCCTCAGACCCAGGCGTCCAGACCCCAGCTCCTCCTCCCTCAGACCCAGGAGTTCAGGGCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGGCCTCAGCCCCTCCTCCGTTAGGAACCAGAGGTCTGGCCCCCAGCCCCTGCCCCCTCAGAACTCAGACCTCAGGCTCCTGCAGGCTGACTCACCTTGACCAGGTAGCCGCCAAAATGGGCCCCCATGTTGGACAGCACCTTCTTTTTCTTGGCATCATCCTCTGCCCGCTTCTTGGCCTCTTCCTCTTCCTTCCTCATCTTCTCCTCCTGTGGGAAGTAAGGGGTTAACCTCATGGACTCCCCTGTAGGACTGAGGGAGGAGGGCCCTGGGATGTGGAACTGGGGCACAGGGATCAGCAGACCCAGTGCCGCAGAGGCTGCTGGGACATCAGAACCAGCAGAAACGCAGGGGTACCCACTCCCGGCCCTGCCACGTCTCCCCGTGTGACCACCTACAAGTCCCTTCCCCTCTGTTTTTTTTTTTTTTTGAGACGGACTCTCGCTCTGTTGCTCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCAATTCTCCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCGCGCCCAACTAATTTTTGTATTTTTAGTGGAGACGCGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTACTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCGGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCCTTCTCTGGGTCTTAATATCCTCCCAGAAAAAATCGAAATGAAGGAGAAGAAGAAATGCCTGCTTTTTCTGCATGTCTCCACCCTGAAATAGCCGATAGTGAACTCTGCTGTACGACCTCACTCCAGATGCTCAGCCTGTCTGGGCCACAGTCGCCCTTAGTCTCAGGATATGAGAATGTCTGTTTTGAGGGGGTCAAGGGAAGTAACTGGTGATAAGACCAGGGACTGGGGAGATTAAAGAGGCTGATGGCCTTGAGCCTGAGGAAGGGGTTCTGGAATATTGAGCGAAGGCATTACGACATTCGAGAAACTCTTCATTGAATGTTCCAGAAACAGTGGTTTGTCCAGGCTGAGCCCCGTCTCCTTATGGTGGACATGAGGCTTTTTGTACACCCAGCACTCCGTACCTGAATTAGTTTCCTTTCTGTTTTTGAGATGGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGTGCAATCTCTGCTCTGTTCACTGCAACCCCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAAGTAACTGGGATTACAGACATGTG
|
pathogenic
| 310,068 |
The chromosome 19, position 55154219 genetic variant in gene TNNI3 (troponin I3, cardiac type): benign or pathogenic? If pathogenic, indicate disease(s).
|
benign
|
TTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAGCCGGTACCTGCAGCTCCGCGAAGCCCAGCCCGGCCAACTCCAGCGGCTGGCAGCGGGTGCTCAGAGCGCGCCC
|
TTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAGCCGGTACCTGCAGCTCCGCGAAGCCCAGCCCGGCCAACTCCAGCGGCTGGCAGCGGGTGCTCAGAGCGCGCCCN
|
benign
| 310,155 |
Variant at chromosome position 55156184, chromosome 19, gene TNNI3 (troponin I3, cardiac type): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
benign
|
CTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAGCCGGTACCTGCAGCTCCGCGAAGCCCAGCCCGGCCAACTCCAGCGGCTGGCAGCGGGTGCTCAGAGCGCGCCCCTTCTCTCCGCGCCGCTCCTCCGCCTCTCGCTCCAGCTCTTGCTTTGCAATCTGCAGCAGCAGAGTCTGCAGAGGGGTGGGAGGGAAGCGCAGCCCACCCGGGGCTTCAGGATAAAGACCAGGCGTGGGGAACCGCCTCTGCCCTTCTAAACCCTCCAGTTTGGTCTCCACTGTTCCAAGGCCCCGTCCCACCCCGAGCAGTACTCCCCGCTAAAGCCACGCCCCGAGCGGCCAAACCCCGCCCACTTCCGCCCACCTACCCCGAAAGCCCCACCCATTCTCAAGCTCCGCCCCCTGAGCACCTGCCTGCTCTTTCCCAGTCCCGCCCGTCCTCACCTTCAGCTGCAATTTTCTCGAGGCGGAGATCTTAGATTTTTTCTGCCAGGGTGAGATGGAGCAAGGAAGGATCATGGAGGGGGATTCGGAGACGACGGTGGAGGGGACCTCAAGACACCCCCAGCAAACCCAGCCGGTCCAGATTTGGGCCCACGTCCAACTTGAGCCCTGAGTCTACGGGAGGCCACGCCCCTCATTCCCATCCACCAATCTGGGTCTCTTCCTTTGGATAGGCACTTCCCATCTATCCCTAAGCAAGTCCGAGGGCAACGGAGTTCCGCCCGCAGGCTGCTGTCACCAATCCGAGCATGACCCTCTGCAAAACTCCGCCCCTGAAGCCCCTCCGCGTAGTCCCCGCCCCCTTCGCAGCCCTGGCTCCTCCCCCCACTCCCAGGGTCTTGGATCCCTCCGGCGCCTGTACTCTGCCCCCAGGAAGCCCCGTCCCACCTTGGCGTGCGGCTCCGTGGCATAAGCGCGGTAGTTGGAGGAGCGGCGTCTGATTGGGGCTGGTGCAGGGCGAGGTTCCCTAGCCTGGGTTAGGAGGAGTGGGGACCCCATCACCACCAAGACCCCACCCAGCCCTTACCGTACCGCACCCTCTGCTAGGGCTGCAGCCTCCCGCCCCAGACCCCTCACTGCAGCGCCCACCCTGGCCCTGGGGGTCCCAGCCACGCCTTAGCCCGCTGCTCTCACCGCATCGCTGCTCCTGGAAGGAGAGAAACCAAGGAGGGGGGTTAGTGGTGGGCTGTGTCCTGTCTCCTAAGGGACCCCTGGAGTCCCCTCTGAACAAGAGGTCGGGGGACCGCGCTTCCCCTTCCTTGGGTTCCAGGAGTCTGACTCGCAAACCCACTTCCTCTCTTCACCCAAGAGTCCCTACGCCTACCTCGCAGGCCAAGGGTCCAGCCTCTCAGCTGCGACCCCTCTTGGGAACCCGGGAGGTCGCCCCCAACTCCCACTGCCTTGGGGCATCACTCACCCATCCGCCATGCTGAGACTCAGGCCGGGAATGGCAGGAGGCAGGGCGAGGACAGGGGCGTTTGGAGGGTCAGTGAGGGGGCCGCCCGGGTGACCTTCAGGGTCCCAGGGACCGTCAGTCTCCTCCGGGCTGCTTGAGACTCCCCGAGGACACTGAGATAAAGGGCGAGGACACAGACTAAATATACTGTCACCTCCTCCTCCCCCTGCCCACTATGCCAGATAACGGGGGCGCGTGAGGGGCGGGGTGGGCCCTGCTCCAGCTGGATCACCAGCCACCTCCGGGCACAGGAATCCGGACCCTCCTCCCTCTGATCCTGGAGTCCTAGACCCCTCCTCCCTCAGACCCAGAGAATGCCCGACCTCCCAACCTCCTCCTCCCTCAGTCCCAGGACCCTGGGAGACCCTGGCCACTCCCTCACACAAGGAGTCCAGGCCCCCAGCCCCCTTTTCCCTCAGACTCAAGTGTCTGGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCC
|
CTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCAAACTTGGGAGCCGGTACCTGCAGCTCCGCGAAGCCCAGCCCGGCCAACTCCAGCGGCTGGCAGCGGGTGCTCAGAGCGCGCCCCTTCTCTCCGCGCCGCTCCTCCGCCTCTCGCTCCAGCTCTTGCTTTGCAATCTGCAGCAGCAGAGTCTGCAGAGGGGTGGGAGGGAAGCGCAGCCCACCCGGGGCTTCAGGATAAAGACCAGGCGTGGGGAACCGCCTCTGCCCTTCTAAACCCTCCAGTTTGGTCTCCACTGTTCCAAGGCCCCGTCCCACCCCGAGCAGTACTCCCCGCTAAAGCCACGCCCCGAGCGGCCAAACCCCGCCCACTTCCGCCCACCTACCCCGAAAGCCCCACCCATTCTCAAGCTCCGCCCCCTGAGCACCTGCCTGCTCTTTCCCAGTCCCGCCCGTCCTCACCTTCAGCTGCAATTTTCTCGAGGCGGAGATCTTAGATTTTTTCTGCCAGGGTGAGATGGAGCAAGGAAGGATCATGGAGGGGGATTCGGAGACGACGGTGGAGGGGACCTCAAGACACCCCCAGCAAACCCAGCCGGTCCAGATTTGGGCCCACGTCCAACTTGAGCCCTGAGTCTACGGGAGGCCACGCCCCTCATTCCCATCCACCAATCTGGGTCTCTTCCTTTGGATAGGCACTTCCCATCTATCCCTAAGCAAGTCCGAGGGCAACGGAGTTCCGCCCGCAGGCTGCTGTCACCAATCCGAGCATGACCCTCTGCAAAACTCCGCCCCTGAAGCCCCTCCGCGTAGTCCCCGCCCCCTTCGCAGCCCTGGCTCCTCCCCCCACTCCCAGGGTCTTGGATCCCTCCGGCGCCTGTACTCTGCCCCCAGGAAGCCCCGTCCCACCTTGGCGTGCGGCTCCGTGGCATAAGCGCGGTAGTTGGAGGAGCGGCGTCTGATTGGGGCTGGTGCAGGGCGAGGTTCCCTAGCCTGGGTTAGGAGGAGTGGGGACCCCATCACCACCAAGACCCCACCCAGCCCTTACCGTACCGCACCCTCTGCTAGGGCTGCAGCCTCCCGCCCCAGACCCCTCACTGCAGCGCCCACCCTGGCCCTGGGGGTCCCAGCCACGCCTTAGCCCGCTGCTCTCACCGCATCGCTGCTCCTGGAAGGAGAGAAACCAAGGAGGGGGGTTAGTGGTGGGCTGTGTCCTGTCTCCTAAGGGACCCCTGGAGTCCCCTCTGAACAAGAGGTCGGGGGACCGCGCTTCCCCTTCCTTGGGTTCCAGGAGTCTGACTCGCAAACCCACTTCCTCTCTTCACCCAAGAGTCCCTACGCCTACCTCGCAGGCCAAGGGTCCAGCCTCTCAGCTGCGACCCCTCTTGGGAACCCGGGAGGTCGCCCCCAACTCCCACTGCCTTGGGGCATCACTCACCCATCCGCCATGCTGAGACTCAGGCCGGGAATGGCAGGAGGCAGGGCGAGGACAGGGGCGTTTGGAGGGTCAGTGAGGGGGCCGCCCGGGTGACCTTCAGGGTCCCAGGGACCGTCAGTCTCCTCCGGGCTGCTTGAGACTCCCCGAGGACACTGAGATAAAGGGCGAGGACACAGACTAAATATACTGTCACCTCCTCCTCCCCCTGCCCACTATGCCAGATAACGGGGGCGCGTGAGGGGCGGGGTGGGCCCTGCTCCAGCTGGATCACCAGCCACCTCCGGGCACAGGAATCCGGACCCTCCTCCCTCTGATCCTGGAGTCCTAGACCCCTCCTCCCTCAGACCCAGAGAATGCCCGACCTCCCAACCTCCTCCTCCCTCAGTCCCAGGACCCTGGGAGACCCTGGCCACTCCCTCACACAAGGAGTCCAGGCCCCCAGCCCCCTTTTCCCTCAGACTCAAGTGTCTGGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCC
|
benign
| 310,172 |
Gene mutation in DNAAF3 at chromosome 19, position 55159416—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_2']
|
GACCCCTGGAGTCCCCTCTGAACAAGAGGTCGGGGGACCGCGCTTCCCCTTCCTTGGGTTCCAGGAGTCTGACTCGCAAACCCACTTCCTCTCTTCACCCAAGAGTCCCTACGCCTACCTCGCAGGCCAAGGGTCCAGCCTCTCAGCTGCGACCCCTCTTGGGAACCCGGGAGGTCGCCCCCAACTCCCACTGCCTTGGGGCATCACTCACCCATCCGCCATGCTGAGACTCAGGCCGGGAATGGCAGGAGGCAGGGCGAGGACAGGGGCGTTTGGAGGGTCAGTGAGGGGGCCGCCCGGGTGACCTTCAGGGTCCCAGGGACCGTCAGTCTCCTCCGGGCTGCTTGAGACTCCCCGAGGACACTGAGATAAAGGGCGAGGACACAGACTAAATATACTGTCACCTCCTCCTCCCCCTGCCCACTATGCCAGATAACGGGGGCGCGTGAGGGGCGGGGTGGGCCCTGCTCCAGCTGGATCACCAGCCACCTCCGGGCACAGGAATCCGGACCCTCCTCCCTCTGATCCTGGAGTCCTAGACCCCTCCTCCCTCAGACCCAGAGAATGCCCGACCTCCCAACCTCCTCCTCCCTCAGTCCCAGGACCCTGGGAGACCCTGGCCACTCCCTCACACAAGGAGTCCAGGCCCCCAGCCCCCTTTTCCCTCAGACTCAAGTGTCTGGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCCTCAGACAAGGGAGTCCAGGCAGGCCCCCAGCACACTTCCTCTCTCAGACTCAAGAGTCTGCACCCTCAGCTCCTCCTCCCTCAGACCAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCGAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCCAGGAGTCCAGGCCACTCAATAAATGTTGTTGATTAATTTGAGGATGCAGCTGTGCTCGGGGCTAGCTCTCAGTCAATAGCACTGGGAAATCCATCCCTCGTCCACTTGGAAACCCAGGAATCTGGTTTCTGGCTTCCTCTGTCCAGCACTCCTGGGCCTTTCTCTCCCAGCCCTGGAGACGGACATAGGACAGGAAAGACGCTTGGACACACAGAAGGGTGGACACAACTTGCTTTACTTGAACCATCTGGGTGCTGACCAGGCCCTGGTGAGGAGACACCCCAGCCCCTAGTCAGCCACAGGGTGCCTGGGAACAAGGGGGCCAAAGTCAAGGGCCTGAGACTCAGTGTCAGATCCTAGGCTGGGCTTAGAGCCTCAGAAGTGGAATTTGGAATTCTGAGAGAACAATCTAGAATTCTAGGAATAGACCATAGAATCTCAGAAATGGAATTTGAAAGTCTACCAACACTCCCGGGGTGGGGGTGGCGGGTACTGAGTGGGAATGATTAGAATAAAATTGAGGACTCTAGCAGCGGACTTAGAATGGTATCAGCGGGTTCTCATCCTACAACCTGACTTTGGAAGTTGGAGATAAGGGGTGTCTAGGGGTTGGGTCAGACTCCAGTTTTGGAGTCTGACTCACAGTTGGGCGGAGCCAAGGCCCCCTGAGGCTGAGCCAGAACCTCTGAGAGTGAACCTGGAGACTCAGAGGGCAGCTGGCAGGGCTCACAGTGTGGGGTCCCACCCTGCAGAGGCTGGGTCAGGCCCTCAAGGGCTGGGTTGCTGGCTTCAAGAGGCTGGGCCAGGATGTCAAGGGGCGGAGTTCCGGGTTCCACAGCTGGGACAGTGTTGCCCAGAGCTGATTCCTGGGACTTGCAGAAACGTGCGAAGGTCTCTGAAGGCCTGGCCCCGGTCTGTGGAGCAAATCCAGCTGCCTGAGCTAGCTCCCTGACCCGGGTGTTGAATCCCTGCAGCTGCTCCTGCCGCACGTCCACCAGGTACCTGCAGATGGGAAGCGCCCTGTCAGGGACCCAGATTTTGATCCCCAGCCAGGATGTTCCCCACCCTCCACCCCACTGACTCACCGGGCTAATTCCACAATCAAGTTCCCTCCGGGTGCCACACAGGCCCCAAGCTCAGGGATGAGAAGATGGACCATACTGCAGAGAGGACGGAGGACAGGCTGAGATTCAGCTCCAAATCCGGAGGGAGGATGGGGCTCTGGGATCCCAGACAATGAGGGAGGAGGGGTGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCG
|
GACCCCTGGAGTCCCCTCTGAACAAGAGGTCGGGGGACCGCGCTTCCCCTTCCTTGGGTTCCAGGAGTCTGACTCGCAAACCCACTTCCTCTCTTCACCCAAGAGTCCCTACGCCTACCTCGCAGGCCAAGGGTCCAGCCTCTCAGCTGCGACCCCTCTTGGGAACCCGGGAGGTCGCCCCCAACTCCCACTGCCTTGGGGCATCACTCACCCATCCGCCATGCTGAGACTCAGGCCGGGAATGGCAGGAGGCAGGGCGAGGACAGGGGCGTTTGGAGGGTCAGTGAGGGGGCCGCCCGGGTGACCTTCAGGGTCCCAGGGACCGTCAGTCTCCTCCGGGCTGCTTGAGACTCCCCGAGGACACTGAGATAAAGGGCGAGGACACAGACTAAATATACTGTCACCTCCTCCTCCCCCTGCCCACTATGCCAGATAACGGGGGCGCGTGAGGGGCGGGGTGGGCCCTGCTCCAGCTGGATCACCAGCCACCTCCGGGCACAGGAATCCGGACCCTCCTCCCTCTGATCCTGGAGTCCTAGACCCCTCCTCCCTCAGACCCAGAGAATGCCCGACCTCCCAACCTCCTCCTCCCTCAGTCCCAGGACCCTGGGAGACCCTGGCCACTCCCTCACACAAGGAGTCCAGGCCCCCAGCCCCCTTTTCCCTCAGACTCAAGTGTCTGGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCCTCAGACAAGGGAGTCCAGGCAGGCCCCCAGCACACTTCCTCTCTCAGACTCAAGAGTCTGCACCCTCAGCTCCTCCTCCCTCAGACCAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCGAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCCAGGAGTCCAGGCCACTCAATAAATGTTGTTGATTAATTTGAGGATGCAGCTGTGCTCGGGGCTAGCTCTCAGTCAATAGCACTGGGAAATCCATCCCTCGTCCACTTGGAAACCCAGGAATCTGGTTTCTGGCTTCCTCTGTCCAGCACTCCTGGGCCTTTCTCTCCCAGCCCTGGAGACGGACATAGGACAGGAAAGACGCTTGGACACACAGAAGGGTGGACACAACTTGCTTTACTTGAACCATCTGGGTGCTGACCAGGCCCTGGTGAGGAGACACCCCAGCCCCTAGTCAGCCACAGGGTGCCTGGGAACAAGGGGGCCAAAGTCAAGGGCCTGAGACTCAGTGTCAGATCCTAGGCTGGGCTTAGAGCCTCAGAAGTGGAATTTGGAATTCTGAGAGAACAATCTAGAATTCTAGGAATAGACCATAGAATCTCAGAAATGGAATTTGAAAGTCTACCAACACTCCCGGGGTGGGGGTGGCGGGTACTGAGTGGGAATGATTAGAATAAAATTGAGGACTCTAGCAGCGGACTTAGAATGGTATCAGCGGGTTCTCATCCTACAACCTGACTTTGGAAGTTGGAGATAAGGGGTGTCTAGGGGTTGGGTCAGACTCCAGTTTTGGAGTCTGACTCACAGTTGGGCGGAGCCAAGGCCCCCTGAGGCTGAGCCAGAACCTCTGAGAGTGAACCTGGAGACTCAGAGGGCAGCTGGCAGGGCTCACAGTGTGGGGTCCCACCCTGCAGAGGCTGGGTCAGGCCCTCAAGGGCTGGGTTGCTGGCTTCAAGAGGCTGGGCCAGGATGTCAAGGGGCGGAGTTCCGGGTTCCACAGCTGGGACAGTGTTGCCCAGAGCTGATTCCTGGGACTTGCAGAAACGTGCGAAGGTCTCTGAAGGCCTGGCCCCGGTCTGTGGAGCAAATCCAGCTGCCTGAGCTAGCTCCCTGACCCGGGTGTTGAATCCCTTGCAGCTGCTCCTGCCGCACGTCCACCAGGTACCTGCAGATGGGAAGCGCCCTGTCAGGGACCCAGATTTTGATCCCCAGCCAGGATGTTCCCCACCCTCCACCCCACTGACTCACCGGGCTAATTCCACAATCAAGTTCCCTCCGGGTGCCACACAGGCCCCAAGCTCAGGGATGAGAAGATGGACCATACTGCAGAGAGGACGGAGGACAGGCTGAGATTCAGCTCCAAATCCGGAGGGAGGATGGGGCTCTGGGATCCCAGACAATGAGGGAGGAGGGGTGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGC
|
pathogenic
| 310,227 |
A genetic variant at chromosome 19, position 55159575, affecting gene DNAAF3—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_2']
|
TGGGAACCCGGGAGGTCGCCCCCAACTCCCACTGCCTTGGGGCATCACTCACCCATCCGCCATGCTGAGACTCAGGCCGGGAATGGCAGGAGGCAGGGCGAGGACAGGGGCGTTTGGAGGGTCAGTGAGGGGGCCGCCCGGGTGACCTTCAGGGTCCCAGGGACCGTCAGTCTCCTCCGGGCTGCTTGAGACTCCCCGAGGACACTGAGATAAAGGGCGAGGACACAGACTAAATATACTGTCACCTCCTCCTCCCCCTGCCCACTATGCCAGATAACGGGGGCGCGTGAGGGGCGGGGTGGGCCCTGCTCCAGCTGGATCACCAGCCACCTCCGGGCACAGGAATCCGGACCCTCCTCCCTCTGATCCTGGAGTCCTAGACCCCTCCTCCCTCAGACCCAGAGAATGCCCGACCTCCCAACCTCCTCCTCCCTCAGTCCCAGGACCCTGGGAGACCCTGGCCACTCCCTCACACAAGGAGTCCAGGCCCCCAGCCCCCTTTTCCCTCAGACTCAAGTGTCTGGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCCTCAGACAAGGGAGTCCAGGCAGGCCCCCAGCACACTTCCTCTCTCAGACTCAAGAGTCTGCACCCTCAGCTCCTCCTCCCTCAGACCAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCGAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCCAGGAGTCCAGGCCACTCAATAAATGTTGTTGATTAATTTGAGGATGCAGCTGTGCTCGGGGCTAGCTCTCAGTCAATAGCACTGGGAAATCCATCCCTCGTCCACTTGGAAACCCAGGAATCTGGTTTCTGGCTTCCTCTGTCCAGCACTCCTGGGCCTTTCTCTCCCAGCCCTGGAGACGGACATAGGACAGGAAAGACGCTTGGACACACAGAAGGGTGGACACAACTTGCTTTACTTGAACCATCTGGGTGCTGACCAGGCCCTGGTGAGGAGACACCCCAGCCCCTAGTCAGCCACAGGGTGCCTGGGAACAAGGGGGCCAAAGTCAAGGGCCTGAGACTCAGTGTCAGATCCTAGGCTGGGCTTAGAGCCTCAGAAGTGGAATTTGGAATTCTGAGAGAACAATCTAGAATTCTAGGAATAGACCATAGAATCTCAGAAATGGAATTTGAAAGTCTACCAACACTCCCGGGGTGGGGGTGGCGGGTACTGAGTGGGAATGATTAGAATAAAATTGAGGACTCTAGCAGCGGACTTAGAATGGTATCAGCGGGTTCTCATCCTACAACCTGACTTTGGAAGTTGGAGATAAGGGGTGTCTAGGGGTTGGGTCAGACTCCAGTTTTGGAGTCTGACTCACAGTTGGGCGGAGCCAAGGCCCCCTGAGGCTGAGCCAGAACCTCTGAGAGTGAACCTGGAGACTCAGAGGGCAGCTGGCAGGGCTCACAGTGTGGGGTCCCACCCTGCAGAGGCTGGGTCAGGCCCTCAAGGGCTGGGTTGCTGGCTTCAAGAGGCTGGGCCAGGATGTCAAGGGGCGGAGTTCCGGGTTCCACAGCTGGGACAGTGTTGCCCAGAGCTGATTCCTGGGACTTGCAGAAACGTGCGAAGGTCTCTGAAGGCCTGGCCCCGGTCTGTGGAGCAAATCCAGCTGCCTGAGCTAGCTCCCTGACCCGGGTGTTGAATCCCTGCAGCTGCTCCTGCCGCACGTCCACCAGGTACCTGCAGATGGGAAGCGCCCTGTCAGGGACCCAGATTTTGATCCCCAGCCAGGATGTTCCCCACCCTCCACCCCACTGACTCACCGGGCTAATTCCACAATCAAGTTCCCTCCGGGTGCCACACAGGCCCCAAGCTCAGGGATGAGAAGATGGACCATACTGCAGAGAGGACGGAGGACAGGCTGAGATTCAGCTCCAAATCCGGAGGGAGGATGGGGCTCTGGGATCCCAGACAATGAGGGAGGAGGGGTGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCGTGGAGAGACCCCTACACCAGCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAAACCCTCCTCCCTCAGACTCAGGAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGC
|
TGGGAACCCGGGAGGTCGCCCCCAACTCCCACTGCCTTGGGGCATCACTCACCCATCCGCCATGCTGAGACTCAGGCCGGGAATGGCAGGAGGCAGGGCGAGGACAGGGGCGTTTGGAGGGTCAGTGAGGGGGCCGCCCGGGTGACCTTCAGGGTCCCAGGGACCGTCAGTCTCCTCCGGGCTGCTTGAGACTCCCCGAGGACACTGAGATAAAGGGCGAGGACACAGACTAAATATACTGTCACCTCCTCCTCCCCCTGCCCACTATGCCAGATAACGGGGGCGCGTGAGGGGCGGGGTGGGCCCTGCTCCAGCTGGATCACCAGCCACCTCCGGGCACAGGAATCCGGACCCTCCTCCCTCTGATCCTGGAGTCCTAGACCCCTCCTCCCTCAGACCCAGAGAATGCCCGACCTCCCAACCTCCTCCTCCCTCAGTCCCAGGACCCTGGGAGACCCTGGCCACTCCCTCACACAAGGAGTCCAGGCCCCCAGCCCCCTTTTCCCTCAGACTCAAGTGTCTGGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCCTCAGACAAGGGAGTCCAGGCAGGCCCCCAGCACACTTCCTCTCTCAGACTCAAGAGTCTGCACCCTCAGCTCCTCCTCCCTCAGACCAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCGAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCCAGGAGTCCAGGCCACTCAATAAATGTTGTTGATTAATTTGAGGATGCAGCTGTGCTCGGGGCTAGCTCTCAGTCAATAGCACTGGGAAATCCATCCCTCGTCCACTTGGAAACCCAGGAATCTGGTTTCTGGCTTCCTCTGTCCAGCACTCCTGGGCCTTTCTCTCCCAGCCCTGGAGACGGACATAGGACAGGAAAGACGCTTGGACACACAGAAGGGTGGACACAACTTGCTTTACTTGAACCATCTGGGTGCTGACCAGGCCCTGGTGAGGAGACACCCCAGCCCCTAGTCAGCCACAGGGTGCCTGGGAACAAGGGGGCCAAAGTCAAGGGCCTGAGACTCAGTGTCAGATCCTAGGCTGGGCTTAGAGCCTCAGAAGTGGAATTTGGAATTCTGAGAGAACAATCTAGAATTCTAGGAATAGACCATAGAATCTCAGAAATGGAATTTGAAAGTCTACCAACACTCCCGGGGTGGGGGTGGCGGGTACTGAGTGGGAATGATTAGAATAAAATTGAGGACTCTAGCAGCGGACTTAGAATGGTATCAGCGGGTTCTCATCCTACAACCTGACTTTGGAAGTTGGAGATAAGGGGTGTCTAGGGGTTGGGTCAGACTCCAGTTTTGGAGTCTGACTCACAGTTGGGCGGAGCCAAGGCCCCCTGAGGCTGAGCCAGAACCTCTGAGAGTGAACCTGGAGACTCAGAGGGCAGCTGGCAGGGCTCACAGTGTGGGGTCCCACCCTGCAGAGGCTGGGTCAGGCCCTCAAGGGCTGGGTTGCTGGCTTCAAGAGGCTGGGCCAGGATGTCAAGGGGCGGAGTTCCGGGTTCCACAGCTGGGACAGTGTTGCCCAGAGCTGATTCCTGGGACTTGCAGAAACGTGCGAAGGTCTCTGAAGGCCTGGCCCCGGTCTGTGGAGCAAATCCAGCTGCCTGAGCTAGCTCCCTGACCCGGGTGTTGAATCCCTGCAGCTGCTCCTGCCGCACGTCCACCAGGTACCTGCAGATGGGAAGCGCCCTGTCAGGGACCCAGATTTTGATCCCCAGCCAGGATGTTCCCCACCCTCCACCCCACTGACTCACCGGGCTAATTCCACAATCAAGTTCCCTCCGGGTGCCACACAGGCCCAAGCTCAGGGATGAGAAGATGGACCATACTGCAGAGAGGACGGAGGACAGGCTGAGATTCAGCTCCAAATCCGGAGGGAGGATGGGGCTCTGGGATCCCAGACAATGAGGGAGGAGGGGTGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCGTGGAGAGACCCCTACACCAGCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAAACCCTCCTCCCTCAGACTCAGGAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCN
|
pathogenic
| 310,230 |
A genetic alteration at chromosome 19, position 55160605, in gene DNAAF3—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
benign
|
AAACCCAGGAATCTGGTTTCTGGCTTCCTCTGTCCAGCACTCCTGGGCCTTTCTCTCCCAGCCCTGGAGACGGACATAGGACAGGAAAGACGCTTGGACACACAGAAGGGTGGACACAACTTGCTTTACTTGAACCATCTGGGTGCTGACCAGGCCCTGGTGAGGAGACACCCCAGCCCCTAGTCAGCCACAGGGTGCCTGGGAACAAGGGGGCCAAAGTCAAGGGCCTGAGACTCAGTGTCAGATCCTAGGCTGGGCTTAGAGCCTCAGAAGTGGAATTTGGAATTCTGAGAGAACAATCTAGAATTCTAGGAATAGACCATAGAATCTCAGAAATGGAATTTGAAAGTCTACCAACACTCCCGGGGTGGGGGTGGCGGGTACTGAGTGGGAATGATTAGAATAAAATTGAGGACTCTAGCAGCGGACTTAGAATGGTATCAGCGGGTTCTCATCCTACAACCTGACTTTGGAAGTTGGAGATAAGGGGTGTCTAGGGGTTGGGTCAGACTCCAGTTTTGGAGTCTGACTCACAGTTGGGCGGAGCCAAGGCCCCCTGAGGCTGAGCCAGAACCTCTGAGAGTGAACCTGGAGACTCAGAGGGCAGCTGGCAGGGCTCACAGTGTGGGGTCCCACCCTGCAGAGGCTGGGTCAGGCCCTCAAGGGCTGGGTTGCTGGCTTCAAGAGGCTGGGCCAGGATGTCAAGGGGCGGAGTTCCGGGTTCCACAGCTGGGACAGTGTTGCCCAGAGCTGATTCCTGGGACTTGCAGAAACGTGCGAAGGTCTCTGAAGGCCTGGCCCCGGTCTGTGGAGCAAATCCAGCTGCCTGAGCTAGCTCCCTGACCCGGGTGTTGAATCCCTGCAGCTGCTCCTGCCGCACGTCCACCAGGTACCTGCAGATGGGAAGCGCCCTGTCAGGGACCCAGATTTTGATCCCCAGCCAGGATGTTCCCCACCCTCCACCCCACTGACTCACCGGGCTAATTCCACAATCAAGTTCCCTCCGGGTGCCACACAGGCCCCAAGCTCAGGGATGAGAAGATGGACCATACTGCAGAGAGGACGGAGGACAGGCTGAGATTCAGCTCCAAATCCGGAGGGAGGATGGGGCTCTGGGATCCCAGACAATGAGGGAGGAGGGGTGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCGTGGAGAGACCCCTACACCAGCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAAACCCTCCTCCCTCAGACTCAGGAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCTCCTGGGCCCCTCACCCCGCGGTCATGCAGCTTCATGCGCAGGTCCCAGTCGCTGACACCGCGCCGGGCGTCGTAGCGGGAGCCCAGGTAGTGGCGCAGGCGCGAGTCCCAGAGGCGGCTCATGGGGAACGCCTGGGGCCCTTTCTCGCCGCCAGCCCAGAAGCGGAATACGGCCTCCAGGGCATCCCGCTCGCGGAACTGCGGGGCCAGGCACGCGGTGGGACAGAGGAAGGCAGAGAGGGATGCAGGGAGAGCGGATTCTAATTGACCCTCTCTTCCATCCCAGAACAGGGGAACGATTCCCCCGTTTCTCGGATGGAAAAACTGAGGCTCCGAAAGCAGAAGCCACCTCCTGCCCCCAGGCCAAATCCCACAGTGGGAGTCGGGGAACTGGGATTCGAACCCCCTAGCCCGCCGCCTGCTCCATCAACGCACGTCCTTTGGACTGTGCGCTTCCATTATTCCCGCGGCCACCCGATCCCAGATGGAGGCCGGGCGGCGGCACCTTGAGGGCGCGGAGGCTGAGCCAGGGCAGCTGTTCCTCCAGGCGGTCGGGCTCGGGGACCAGGTGCGCCAGCAGGTCGGCCTGGGCACGCACGAAGGCGGCCACTGGCGGGCGCAGCAGCGCGTTCCCCCACACTTCCAGGAAGGTCTCGCTTCGCTCTACGGAGAGAGGGAGATAATTGCGGGAATGTGTGGAGGAGGGAGCCCAGAAATTACACCCTTAATATGTTATTATGTCATAGTCATCTAATGAAAACAATGAACCCCCGCAAACTCCCCACGCATCCCAAAAACTACATGAAGAACAGGGCCGGACATGGTGGCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAGGCGGAGGTTGCAATGGGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGCCTCTAAAATAAATAAATAAATAACCACCTAGAAGAGGGAATTAGAGTTGCAGATTCCACACTCACCGCAG
|
AAACCCAGGAATCTGGTTTCTGGCTTCCTCTGTCCAGCACTCCTGGGCCTTTCTCTCCCAGCCCTGGAGACGGACATAGGACAGGAAAGACGCTTGGACACACAGAAGGGTGGACACAACTTGCTTTACTTGAACCATCTGGGTGCTGACCAGGCCCTGGTGAGGAGACACCCCAGCCCCTAGTCAGCCACAGGGTGCCTGGGAACAAGGGGGCCAAAGTCAAGGGCCTGAGACTCAGTGTCAGATCCTAGGCTGGGCTTAGAGCCTCAGAAGTGGAATTTGGAATTCTGAGAGAACAATCTAGAATTCTAGGAATAGACCATAGAATCTCAGAAATGGAATTTGAAAGTCTACCAACACTCCCGGGGTGGGGGTGGCGGGTACTGAGTGGGAATGATTAGAATAAAATTGAGGACTCTAGCAGCGGACTTAGAATGGTATCAGCGGGTTCTCATCCTACAACCTGACTTTGGAAGTTGGAGATAAGGGGTGTCTAGGGGTTGGGTCAGACTCCAGTTTTGGAGTCTGACTCACAGTTGGGCGGAGCCAAGGCCCCCTGAGGCTGAGCCAGAACCTCTGAGAGTGAACCTGGAGACTCAGAGGGCAGCTGGCAGGGCTCACAGTGTGGGGTCCCACCCTGCAGAGGCTGGGTCAGGCCCTCAAGGGCTGGGTTGCTGGCTTCAAGAGGCTGGGCCAGGATGTCAAGGGGCGGAGTTCCGGGTTCCACAGCTGGGACAGTGTTGCCCAGAGCTGATTCCTGGGACTTGCAGAAACGTGCGAAGGTCTCTGAAGGCCTGGCCCCGGTCTGTGGAGCAAATCCAGCTGCCTGAGCTAGCTCCCTGACCCGGGTGTTGAATCCCTGCAGCTGCTCCTGCCGCACGTCCACCAGGTACCTGCAGATGGGAAGCGCCCTGTCAGGGACCCAGATTTTGATCCCCAGCCAGGATGTTCCCCACCCTCCACCCCACTGACTCACCGGGCTAATTCCACAATCAAGTTCCCTCCGGGTGCCACACAGGCCCCAAGCTCAGGGATGAGAAGATGGACCATACTGCAGAGAGGACGGAGGACAGGCTGAGATTCAGCTCCAAATCCGGAGGGAGGATGGGGCTCTGGGATCCCAGACAATGAGGGAGGAGGGGTGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCGTGGAGAGACCCCTACACCAGCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAAACCCTCCTCCCTCAGACTCAGGAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCTCCTGGGCCCCTCACCCCGCGGTCATGCAGCTTCATGCGCAGGTCCCAGTCGCTGACACCGCGCCGGGCGTCGTAGCGGGAGCCCAGGTAGTGGCGCAGGCGCGAGTCCCAGAGGCGGCTCATGGGGAACGCCTGGGGCCCTTTCTCGCCGCCAGCCCAGAAGCGGAATACGGCCTCCAGGGCATCCCGCTCGCGGAACTGCGGGGCCAGGCACGCGGTGGGACAGAGGAAGGCAGAGAGGGATGCAGGGAGAGCGGATTCTAATTGACCCTCTCTTCCATCCCAGAACAGGGGAACGATTCCCCCGTTTCTCGGATGGAAAAACTGAGGCTCCGAAAGCAGAAGCCACCTCCTGCCCCCAGGCCAAATCCCACAGTGGGAGTCGGGGAACTGGGATTCGAACCCCCTAGCCCGCCGCCTGCTCCATCAACGCACGTCCTTTGGACTGTGCGCTTCCATTATTCCCGCGGCCACCCGATCCCAGATGGAGGCCGGGCGGCGGCACCTTGAGGGCGCGGAGGCTGAGCCAGGGCAGCTGTTCCTCCAGGCGGTCGGGCTCGGGGACCAGGTGCGCCAGCAGGTCGGCCTGGGCACGCACGAAGGCGGCCACTGGCGGGCGCAGCAGCGCGTTCCCCCACACTTCCAGGAAGGTCTCGCTTCGCTCTACGGAGAGAGGGAGATAATTGCGGGAATGTGTGGAGGAGGGAGCCCAGAAATTACACCCTTAATATGTTATTATGTCATAGTCATCTAATGAAAACAATGAACCCCCGCAAACTCCCCACGCATCCCAAAAACTACATGAAGAACAGGGCCGGACATGGTGGCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAGGCGGAGGTTGCAATGGGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGCCTCTAAAATAAATAAATAAATAACCACCTAGAAGAGGGAATTAGAGTTGCAGATTCCACACTCACCGCAGNNNNNNNNNNNNNNNNNNNNN
|
benign
| 310,235 |
The genetic variant at chromosome 19, position 55160690, affecting gene DNAAF3: benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_2']
|
AAAGACGCTTGGACACACAGAAGGGTGGACACAACTTGCTTTACTTGAACCATCTGGGTGCTGACCAGGCCCTGGTGAGGAGACACCCCAGCCCCTAGTCAGCCACAGGGTGCCTGGGAACAAGGGGGCCAAAGTCAAGGGCCTGAGACTCAGTGTCAGATCCTAGGCTGGGCTTAGAGCCTCAGAAGTGGAATTTGGAATTCTGAGAGAACAATCTAGAATTCTAGGAATAGACCATAGAATCTCAGAAATGGAATTTGAAAGTCTACCAACACTCCCGGGGTGGGGGTGGCGGGTACTGAGTGGGAATGATTAGAATAAAATTGAGGACTCTAGCAGCGGACTTAGAATGGTATCAGCGGGTTCTCATCCTACAACCTGACTTTGGAAGTTGGAGATAAGGGGTGTCTAGGGGTTGGGTCAGACTCCAGTTTTGGAGTCTGACTCACAGTTGGGCGGAGCCAAGGCCCCCTGAGGCTGAGCCAGAACCTCTGAGAGTGAACCTGGAGACTCAGAGGGCAGCTGGCAGGGCTCACAGTGTGGGGTCCCACCCTGCAGAGGCTGGGTCAGGCCCTCAAGGGCTGGGTTGCTGGCTTCAAGAGGCTGGGCCAGGATGTCAAGGGGCGGAGTTCCGGGTTCCACAGCTGGGACAGTGTTGCCCAGAGCTGATTCCTGGGACTTGCAGAAACGTGCGAAGGTCTCTGAAGGCCTGGCCCCGGTCTGTGGAGCAAATCCAGCTGCCTGAGCTAGCTCCCTGACCCGGGTGTTGAATCCCTGCAGCTGCTCCTGCCGCACGTCCACCAGGTACCTGCAGATGGGAAGCGCCCTGTCAGGGACCCAGATTTTGATCCCCAGCCAGGATGTTCCCCACCCTCCACCCCACTGACTCACCGGGCTAATTCCACAATCAAGTTCCCTCCGGGTGCCACACAGGCCCCAAGCTCAGGGATGAGAAGATGGACCATACTGCAGAGAGGACGGAGGACAGGCTGAGATTCAGCTCCAAATCCGGAGGGAGGATGGGGCTCTGGGATCCCAGACAATGAGGGAGGAGGGGTGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCGTGGAGAGACCCCTACACCAGCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAAACCCTCCTCCCTCAGACTCAGGAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCTCCTGGGCCCCTCACCCCGCGGTCATGCAGCTTCATGCGCAGGTCCCAGTCGCTGACACCGCGCCGGGCGTCGTAGCGGGAGCCCAGGTAGTGGCGCAGGCGCGAGTCCCAGAGGCGGCTCATGGGGAACGCCTGGGGCCCTTTCTCGCCGCCAGCCCAGAAGCGGAATACGGCCTCCAGGGCATCCCGCTCGCGGAACTGCGGGGCCAGGCACGCGGTGGGACAGAGGAAGGCAGAGAGGGATGCAGGGAGAGCGGATTCTAATTGACCCTCTCTTCCATCCCAGAACAGGGGAACGATTCCCCCGTTTCTCGGATGGAAAAACTGAGGCTCCGAAAGCAGAAGCCACCTCCTGCCCCCAGGCCAAATCCCACAGTGGGAGTCGGGGAACTGGGATTCGAACCCCCTAGCCCGCCGCCTGCTCCATCAACGCACGTCCTTTGGACTGTGCGCTTCCATTATTCCCGCGGCCACCCGATCCCAGATGGAGGCCGGGCGGCGGCACCTTGAGGGCGCGGAGGCTGAGCCAGGGCAGCTGTTCCTCCAGGCGGTCGGGCTCGGGGACCAGGTGCGCCAGCAGGTCGGCCTGGGCACGCACGAAGGCGGCCACTGGCGGGCGCAGCAGCGCGTTCCCCCACACTTCCAGGAAGGTCTCGCTTCGCTCTACGGAGAGAGGGAGATAATTGCGGGAATGTGTGGAGGAGGGAGCCCAGAAATTACACCCTTAATATGTTATTATGTCATAGTCATCTAATGAAAACAATGAACCCCCGCAAACTCCCCACGCATCCCAAAAACTACATGAAGAACAGGGCCGGACATGGTGGCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAGGCGGAGGTTGCAATGGGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGCCTCTAAAATAAATAAATAAATAACCACCTAGAAGAGGGAATTAGAGTTGCAGATTCCACACTCACCGCAGACAGAGAATATTTGGGGGAAAAGATAACAACACAACAGTAAAAAATAATACAAATTGTAAAATATGGTGTAAGCATTTACATTGT
|
AAAGACGCTTGGACACACAGAAGGGTGGACACAACTTGCTTTACTTGAACCATCTGGGTGCTGACCAGGCCCTGGTGAGGAGACACCCCAGCCCCTAGTCAGCCACAGGGTGCCTGGGAACAAGGGGGCCAAAGTCAAGGGCCTGAGACTCAGTGTCAGATCCTAGGCTGGGCTTAGAGCCTCAGAAGTGGAATTTGGAATTCTGAGAGAACAATCTAGAATTCTAGGAATAGACCATAGAATCTCAGAAATGGAATTTGAAAGTCTACCAACACTCCCGGGGTGGGGGTGGCGGGTACTGAGTGGGAATGATTAGAATAAAATTGAGGACTCTAGCAGCGGACTTAGAATGGTATCAGCGGGTTCTCATCCTACAACCTGACTTTGGAAGTTGGAGATAAGGGGTGTCTAGGGGTTGGGTCAGACTCCAGTTTTGGAGTCTGACTCACAGTTGGGCGGAGCCAAGGCCCCCTGAGGCTGAGCCAGAACCTCTGAGAGTGAACCTGGAGACTCAGAGGGCAGCTGGCAGGGCTCACAGTGTGGGGTCCCACCCTGCAGAGGCTGGGTCAGGCCCTCAAGGGCTGGGTTGCTGGCTTCAAGAGGCTGGGCCAGGATGTCAAGGGGCGGAGTTCCGGGTTCCACAGCTGGGACAGTGTTGCCCAGAGCTGATTCCTGGGACTTGCAGAAACGTGCGAAGGTCTCTGAAGGCCTGGCCCCGGTCTGTGGAGCAAATCCAGCTGCCTGAGCTAGCTCCCTGACCCGGGTGTTGAATCCCTGCAGCTGCTCCTGCCGCACGTCCACCAGGTACCTGCAGATGGGAAGCGCCCTGTCAGGGACCCAGATTTTGATCCCCAGCCAGGATGTTCCCCACCCTCCACCCCACTGACTCACCGGGCTAATTCCACAATCAAGTTCCCTCCGGGTGCCACACAGGCCCCAAGCTCAGGGATGAGAAGATGGACCATACTGCAGAGAGGACGGAGGACAGGCTGAGATTCAGCTCCAAATCCGGAGGGAGGATGGGGCTCTGGGATCCCAGACAATGAGGGAGGAGGGGTGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCGTGGAGAGACCCCTACACCAGCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAAACCCTCCTCCCTCAGACTCAGGAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCTCCTGGGCCCCTCACCCCGCGGTCATGCAGCTTCATGCGCAGGTCCCAGTCGCTGACACCGCGCCGGGCGTCGTAGCGGGAGCCCAGGTAGTGGCGCAGGCGCGAGTCCCAGAGGCGGCTCATGGGGAACGCCTGGGGCCCTTTCTCGCCGCCAGCCCAGAAGCGGAATACGGCCTCCAGGGCATCCCGCTCGCGGAACTGCGGGGCCAGGCACGCGGTGGGACAGAGGAAGGCAGAGAGGGATGCAGGGAGAGCGGATTCTAATTGACCCTCTCTTCCATCCCAGAACAGGGGAACGATTCCCCCGTTTCTCGGATGGAAAAACTGAGGCTCCGAAAGCAGAAGCCACCTCCTGCCCCCAGGCCAAATCCCACAGTGGGAGTCGGGGAACTGGGATTCGAACCCCCTAGCCCGCCGCCTGCTCCATCAACGCACGTCCTTTGGACTGTGCGCTTCCATTATTCCCGCGGCCACCCGATCCCAGATGGAGGCCGGGCGGCGGCACCTTGAGGGCGCGGAGGCTGAGCCAGGGCAGCTGTTCCTCCAGGCGGTCGGGCTCGGGGACCAGGTGCGCCAGCAGGTCGGCCTGGGCACGCACGAAGGCGGCCACTGGCGGGCGCAGCAGCGCGTTCCCCCACACTTCCAGGAAGGTCTCGCTTCGCTCTACGGAGAGAGGGAGATAATTGCGGGAATGTGTGGAGGAGGGAGCCCAGAAATTACACCCTTAATATGTTATTATGTCATAGTCATCTAATGAAAACAATGAACCCCCGCAAACTCCCCACGCATCCCAAAAACTACATGAAGAACAGGGCCGGACATGGTGGCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAGGCGGAGGTTGCAATGGGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGCCTCTAAAATAAATAAATAAATAACCACCTAGAAGAGGGAATTAGAGTTGCAGATTCCACACTCACCGCAGACAGAGAATATTTGGGGGAAAAGATAACAACACAACAGTAAAAAATAATACAAATTGTAAAATATGGTGTAAGCATTTACATTG
|
pathogenic
| 310,237 |
Considering the variant on chromosome 19, location 55161694, involving gene DNAAF3, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_2']
|
AAATCCGGAGGGAGGATGGGGCTCTGGGATCCCAGACAATGAGGGAGGAGGGGTGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCGTGGAGAGACCCCTACACCAGCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAAACCCTCCTCCCTCAGACTCAGGAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCTCCTGGGCCCCTCACCCCGCGGTCATGCAGCTTCATGCGCAGGTCCCAGTCGCTGACACCGCGCCGGGCGTCGTAGCGGGAGCCCAGGTAGTGGCGCAGGCGCGAGTCCCAGAGGCGGCTCATGGGGAACGCCTGGGGCCCTTTCTCGCCGCCAGCCCAGAAGCGGAATACGGCCTCCAGGGCATCCCGCTCGCGGAACTGCGGGGCCAGGCACGCGGTGGGACAGAGGAAGGCAGAGAGGGATGCAGGGAGAGCGGATTCTAATTGACCCTCTCTTCCATCCCAGAACAGGGGAACGATTCCCCCGTTTCTCGGATGGAAAAACTGAGGCTCCGAAAGCAGAAGCCACCTCCTGCCCCCAGGCCAAATCCCACAGTGGGAGTCGGGGAACTGGGATTCGAACCCCCTAGCCCGCCGCCTGCTCCATCAACGCACGTCCTTTGGACTGTGCGCTTCCATTATTCCCGCGGCCACCCGATCCCAGATGGAGGCCGGGCGGCGGCACCTTGAGGGCGCGGAGGCTGAGCCAGGGCAGCTGTTCCTCCAGGCGGTCGGGCTCGGGGACCAGGTGCGCCAGCAGGTCGGCCTGGGCACGCACGAAGGCGGCCACTGGCGGGCGCAGCAGCGCGTTCCCCCACACTTCCAGGAAGGTCTCGCTTCGCTCTACGGAGAGAGGGAGATAATTGCGGGAATGTGTGGAGGAGGGAGCCCAGAAATTACACCCTTAATATGTTATTATGTCATAGTCATCTAATGAAAACAATGAACCCCCGCAAACTCCCCACGCATCCCAAAAACTACATGAAGAACAGGGCCGGACATGGTGGCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAGGCGGAGGTTGCAATGGGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGCCTCTAAAATAAATAAATAAATAACCACCTAGAAGAGGGAATTAGAGTTGCAGATTCCACACTCACCGCAGACAGAGAATATTTGGGGGAAAAGATAACAACACAACAGTAAAAAATAATACAAATTGTAAAATATGGTGTAAGCATTTACATTGTATTACATATTATAGGTAATCTAGAGATGATTTGCGGTGTATGGGACCATGTGTACAGGCTATTTGTAAGTACATCTTTTTTGTTTTGAGACAGTGTCTCACTCTGTTGCCCAGGCTGAATGCAGTTGTGCCATCATAGTTCACTGTTACCTCGACCACCTGAGCTTAAGGGACCCTCCTCCTCCAGCTTCCCAGCTAGCTGGGGCTAGGCATTAGCTACCACACCCAGCTAATGTTTTATTTCTTTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCTAGACTGTAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATATTTTATTTCTTGTAGAGACGGGGTCTCACTATGTTGACCAGGCCAGTCTCAAACTCGTGGTCTCAAGCAGTCCTCCCACCTCAGGCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACCGCCCCTGGCAATACTATACAATTTTATAAGGGACTTGAGCATCCTTGGATCTTGGTATCTGCAGGGGTCCTGGAACCAGTCCCCAGTGTTACTGAGGGATGACTGTATATACCTTTGCATATAATATATATACACATAGACATACAAATAGTTTCATGTT
|
AAATCCGGAGGGAGGATGGGGCTCTGGGATCCCAGACAATGAGGGAGGAGGGGTGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCGTGGAGAGACCCCTACACCAGCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAAACCCTCCTCCCTCAGACTCAGGAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCTCCTGGGCCCCTCACCCCGCGGTCATGCAGCTTCATGCGCAGGTCCCAGTCGCTGACACCGCGCCGGGCGTCGCGTCGTAGCGGGAGCCCAGGTAGTGGCGCAGGCGCGAGTCCCAGAGGCGGCTCATGGGGAACGCCTGGGGCCCTTTCTCGCCGCCAGCCCAGAAGCGGAATACGGCCTCCAGGGCATCCCGCTCGCGGAACTGCGGGGCCAGGCACGCGGTGGGACAGAGGAAGGCAGAGAGGGATGCAGGGAGAGCGGATTCTAATTGACCCTCTCTTCCATCCCAGAACAGGGGAACGATTCCCCCGTTTCTCGGATGGAAAAACTGAGGCTCCGAAAGCAGAAGCCACCTCCTGCCCCCAGGCCAAATCCCACAGTGGGAGTCGGGGAACTGGGATTCGAACCCCCTAGCCCGCCGCCTGCTCCATCAACGCACGTCCTTTGGACTGTGCGCTTCCATTATTCCCGCGGCCACCCGATCCCAGATGGAGGCCGGGCGGCGGCACCTTGAGGGCGCGGAGGCTGAGCCAGGGCAGCTGTTCCTCCAGGCGGTCGGGCTCGGGGACCAGGTGCGCCAGCAGGTCGGCCTGGGCACGCACGAAGGCGGCCACTGGCGGGCGCAGCAGCGCGTTCCCCCACACTTCCAGGAAGGTCTCGCTTCGCTCTACGGAGAGAGGGAGATAATTGCGGGAATGTGTGGAGGAGGGAGCCCAGAAATTACACCCTTAATATGTTATTATGTCATAGTCATCTAATGAAAACAATGAACCCCCGCAAACTCCCCACGCATCCCAAAAACTACATGAAGAACAGGGCCGGACATGGTGGCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAGGCGGAGGTTGCAATGGGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGCCTCTAAAATAAATAAATAAATAACCACCTAGAAGAGGGAATTAGAGTTGCAGATTCCACACTCACCGCAGACAGAGAATATTTGGGGGAAAAGATAACAACACAACAGTAAAAAATAATACAAATTGTAAAATATGGTGTAAGCATTTACATTGTATTACATATTATAGGTAATCTAGAGATGATTTGCGGTGTATGGGACCATGTGTACAGGCTATTTGTAAGTACATCTTTTTTGTTTTGAGACAGTGTCTCACTCTGTTGCCCAGGCTGAATGCAGTTGTGCCATCATAGTTCACTGTTACCTCGACCACCTGAGCTTAAGGGACCCTCCTCCTCCAGCTTCCCAGCTAGCTGGGGCTAGGCATTAGCTACCACACCCAGCTAATGTTTTATTTCTTTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCTAGACTGTAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATATTTTATTTCTTGTAGAGACGGGGTCTCACTATGTTGACCAGGCCAGTCTCAAACTCGTGGTCTCAAGCAGTCCTCCCACCTCAGGCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACCGCCCCTGGCAATACTATACAATTTTATAAGGGACTTGAGCATCCTTGGATCTTGGTATCTGCAGGGGTCCTGGAACCAGTCCCCAGTGTTACTGAGGGATGACTGTATATACCTTTGCATATAATATATATACACATAGACATACAAATAGTTTC
|
pathogenic
| 310,261 |
A genetic variant on chromosome 19, position 55161747, affects the gene DNAAF3. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_2']
|
TGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCGTGGAGAGACCCCTACACCAGCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAAACCCTCCTCCCTCAGACTCAGGAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCTCCTGGGCCCCTCACCCCGCGGTCATGCAGCTTCATGCGCAGGTCCCAGTCGCTGACACCGCGCCGGGCGTCGTAGCGGGAGCCCAGGTAGTGGCGCAGGCGCGAGTCCCAGAGGCGGCTCATGGGGAACGCCTGGGGCCCTTTCTCGCCGCCAGCCCAGAAGCGGAATACGGCCTCCAGGGCATCCCGCTCGCGGAACTGCGGGGCCAGGCACGCGGTGGGACAGAGGAAGGCAGAGAGGGATGCAGGGAGAGCGGATTCTAATTGACCCTCTCTTCCATCCCAGAACAGGGGAACGATTCCCCCGTTTCTCGGATGGAAAAACTGAGGCTCCGAAAGCAGAAGCCACCTCCTGCCCCCAGGCCAAATCCCACAGTGGGAGTCGGGGAACTGGGATTCGAACCCCCTAGCCCGCCGCCTGCTCCATCAACGCACGTCCTTTGGACTGTGCGCTTCCATTATTCCCGCGGCCACCCGATCCCAGATGGAGGCCGGGCGGCGGCACCTTGAGGGCGCGGAGGCTGAGCCAGGGCAGCTGTTCCTCCAGGCGGTCGGGCTCGGGGACCAGGTGCGCCAGCAGGTCGGCCTGGGCACGCACGAAGGCGGCCACTGGCGGGCGCAGCAGCGCGTTCCCCCACACTTCCAGGAAGGTCTCGCTTCGCTCTACGGAGAGAGGGAGATAATTGCGGGAATGTGTGGAGGAGGGAGCCCAGAAATTACACCCTTAATATGTTATTATGTCATAGTCATCTAATGAAAACAATGAACCCCCGCAAACTCCCCACGCATCCCAAAAACTACATGAAGAACAGGGCCGGACATGGTGGCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAGGCGGAGGTTGCAATGGGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGCCTCTAAAATAAATAAATAAATAACCACCTAGAAGAGGGAATTAGAGTTGCAGATTCCACACTCACCGCAGACAGAGAATATTTGGGGGAAAAGATAACAACACAACAGTAAAAAATAATACAAATTGTAAAATATGGTGTAAGCATTTACATTGTATTACATATTATAGGTAATCTAGAGATGATTTGCGGTGTATGGGACCATGTGTACAGGCTATTTGTAAGTACATCTTTTTTGTTTTGAGACAGTGTCTCACTCTGTTGCCCAGGCTGAATGCAGTTGTGCCATCATAGTTCACTGTTACCTCGACCACCTGAGCTTAAGGGACCCTCCTCCTCCAGCTTCCCAGCTAGCTGGGGCTAGGCATTAGCTACCACACCCAGCTAATGTTTTATTTCTTTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCTAGACTGTAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATATTTTATTTCTTGTAGAGACGGGGTCTCACTATGTTGACCAGGCCAGTCTCAAACTCGTGGTCTCAAGCAGTCCTCCCACCTCAGGCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACCGCCCCTGGCAATACTATACAATTTTATAAGGGACTTGAGCATCCTTGGATCTTGGTATCTGCAGGGGTCCTGGAACCAGTCCCCAGTGTTACTGAGGGATGACTGTATATACCTTTGCATATAATATATATACACATAGACATACAAATAGTTTCATGTTAGTTGTTTAAGAACTTAATAGAAGAGAACTATGTGCCTTTAGTAAAATAGATC
|
TGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCGTGGAGAGACCCCTACACCAGCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAAACCCTCCTCCCTCAGACTCAGGAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCTCCTGGGCCCCTCACCCCGCGGTCATGCAGCTTCATGCGCAGGTCCCAGTCGCTGACACCGCGCCGGGCGTCGTAGCGGGAGCCCAGGTAGTGGCGCAGGCGCGAGTCCCAGAGGCGGCTCATGGGGAACGCATGGGGAACGCCTGGGGCCCTTTCTCGCCGCCAGCCCAGAAGCGGAATACGGCCTCCAGGGCATCCCGCTCGCGGAACTGCGGGGCCAGGCACGCGGTGGGACAGAGGAAGGCAGAGAGGGATGCAGGGAGAGCGGATTCTAATTGACCCTCTCTTCCATCCCAGAACAGGGGAACGATTCCCCCGTTTCTCGGATGGAAAAACTGAGGCTCCGAAAGCAGAAGCCACCTCCTGCCCCCAGGCCAAATCCCACAGTGGGAGTCGGGGAACTGGGATTCGAACCCCCTAGCCCGCCGCCTGCTCCATCAACGCACGTCCTTTGGACTGTGCGCTTCCATTATTCCCGCGGCCACCCGATCCCAGATGGAGGCCGGGCGGCGGCACCTTGAGGGCGCGGAGGCTGAGCCAGGGCAGCTGTTCCTCCAGGCGGTCGGGCTCGGGGACCAGGTGCGCCAGCAGGTCGGCCTGGGCACGCACGAAGGCGGCCACTGGCGGGCGCAGCAGCGCGTTCCCCCACACTTCCAGGAAGGTCTCGCTTCGCTCTACGGAGAGAGGGAGATAATTGCGGGAATGTGTGGAGGAGGGAGCCCAGAAATTACACCCTTAATATGTTATTATGTCATAGTCATCTAATGAAAACAATGAACCCCCGCAAACTCCCCACGCATCCCAAAAACTACATGAAGAACAGGGCCGGACATGGTGGCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAGGCGGAGGTTGCAATGGGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGCCTCTAAAATAAATAAATAAATAACCACCTAGAAGAGGGAATTAGAGTTGCAGATTCCACACTCACCGCAGACAGAGAATATTTGGGGGAAAAGATAACAACACAACAGTAAAAAATAATACAAATTGTAAAATATGGTGTAAGCATTTACATTGTATTACATATTATAGGTAATCTAGAGATGATTTGCGGTGTATGGGACCATGTGTACAGGCTATTTGTAAGTACATCTTTTTTGTTTTGAGACAGTGTCTCACTCTGTTGCCCAGGCTGAATGCAGTTGTGCCATCATAGTTCACTGTTACCTCGACCACCTGAGCTTAAGGGACCCTCCTCCTCCAGCTTCCCAGCTAGCTGGGGCTAGGCATTAGCTACCACACCCAGCTAATGTTTTATTTCTTTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCTAGACTGTAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATATTTTATTTCTTGTAGAGACGGGGTCTCACTATGTTGACCAGGCCAGTCTCAAACTCGTGGTCTCAAGCAGTCCTCCCACCTCAGGCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACCGCCCCTGGCAATACTATACAATTTTATAAGGGACTTGAGCATCCTTGGATCTTGGTATCTGCAGGGGTCCTGGAACCAGTCCCCAGTGTTACTGAGGGATGACTGTATATACCTTTGCATATAATATATATACACATAGACATACAAATAGTTTCATGTTAGTTGTTTAAGAACTTAATAGAAGAGAACTATGTGCCTTTAG
|
pathogenic
| 310,262 |
Does the variant impacting AURKC (aurora kinase C) on chromosome 19, position 57232069, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Infertility_associated_with_multi-tailed_spermatozoa_and_excessive_DNA']
|
CTTTTTTGTTTTTGGGTTTTTTTGTTTTTGTTTTTGTTTTTTTTGAGACAGAGTCTCGTTCTCCTTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCGATTCTCTTGCCTCAGCCTTTTGAGTAGGTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTAGTAGAAACGGGGTTTCGCCCTGTTGGCCAGGCTGGTCTCGAACTGCCTACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATCACGCCAGGCCTTCAATTATATTTCTGCAAGATATGTTCCCTGTCTAAAAGAATTCAATTTTTAATGTTTTTGAAACTTATGTGTTTGCTAAACAAATACGTGGGGGCTGATTTTACGATCTGAGGCCAAATCCACAAACTGATTACAGGGTCCAACAAATATTTGGCGAGTGGGAGGAGAGGGGTAAGTGAGCTGGACTGGTGGCGTCCTGGCTGTGAGCAGGCACAGCCGCAGGCTTCAGGGAGCCCCATCGCGGTGACCCTGGAGAGTGGCCTGAATCGGACGTGACCTTGAAGCAAGGTGGTTTTGGGGTCGCCGGCTGCACAAGGCGCGAAGTGGTTTAGGGTCACGGGCTGCACGAGGCTCCAGCACGTCAGGAGTGGGCGTCTGTTCATTCCCACGTGCATCGCGGCTCTCTCCTAGTTGACGCATGCACACCCCGTGGGTGTATGCGTTGTTCATTCCCACAACGGCCATCACCACCTCTCCGCACCCTCTGTCTCCTTCCTTCTCGGGCCTCACCCCTGGCCCTCGCTTTCAGTGCCCAGCCCGGACCGCAGCACTCCAGTTCCGCCCCAACCCGGGAACCCTGGACTGAGGCTCCCGTTTCTGTCCTTTCTATTGGGCGCACTTCCGATGGCGTCAGGAATTTCAGCCAATAGGAGCCAGCCAGGAAGTACCTCTCTGAGCGGTTGGTGCCGGGTATAAAAGAAGGCCGCGCAGCCACGGCTGCTCACGACGCCGCGGATCCCGAAGCCTGTGTAGCAGTGAGACATCAGTGAGGCTGCAGGACGAGCAGGATTGGAAGCGCCCCGGCCAGAAAGTGACCCCCCACCCCTTTCAGGACCCTGTGAACGGGAACAGCCATCCAGAGGGTTCAGGAAGGCGTCCGCGCCCTCACCTCTTCTCCCCATGAGCTCCCCCAGAGCTGTGGTGCAGCTGGGCAAAGCTCAACCTGCAGGCGAAGAGTGTGAGAGCCAGCGCCAGAGAAAGGACGCAGGGAAGGCTGGGGACTGGGCCAGGGGTCGGGTGCACAGAAGACACATGTGTTGACATCTCCCCTCCCTCTCCTCCTCCCCAACGCTCTTCTTTTCTCCCCACTCCCTCCCTTCCCTCCAATTCTTTCTTTCACCTCTCCCTCCCCTACTCTCTCCTCCCCTTCCTTTCTCTCTGCCTCTTCTTCACCTCCTCCTCCCCTCCCTACCTTACCTTACTCTTTCTTCTTCCCCTTACCTCTCCCTCCCCCTCTCCCTGCCTTCCCCTTCCCTCTCTTTCTCTCCTCCCCTTCTTCCCCTCACCTCTCGCTCCCTATTCCCTTCTCTACTGTTCTCCTCTCCTCTCTTTCTCTCCCCTTCTCCTTCCCTCCCCTCTCCCTTCCTATCTCCCTCCTCCTCCTCTCTTTCAGTGGCTACAGCAAACCAAACAGCCCAGCAGCCCAGCAGCCCAGCCATGTGAGTCCCTTGGGATTGGTATCTGGAAAAGGAAGGAAGGTGGGACGTGGGGATGAAGAACAGACTGGGTGTGTGGGGTGCTGGCTCCTGGGAACGAGAACTACTGATAGGGCTGGGTCTGTGTGAGAAGGGAAAGCGGCAGAGGAAGGATACAATGAAAGAGGAAGGGGAGCATTGGCATCCCTGACTTTCCCTCCGCCTACCCTACCTCCCAAGCTGAGGCTTTTTTCTTCCTCTCCTGTCAGGCGGCGCCTCACAGTCGATGACTTTGAAATCGGGCGTCCCCTGGGCAAGGGGAAATTTGGGAATGTGTACCTGGCTCGGCTCAAGGAAAGCCATTTCATTGTGGCCCTGAAGGTTCTCTTCAAGTCGCAGATAGAGAAGGAAGGACTGGAGCACCAGCTGCGCCGGGAAATTGAGATCCAGGCTCATCTACAGTAAGGACAGTCTCTGCTTCCTCTTTCATCTTTGACGTCTGAGCCCAGCATTTTCCCCAAATACTAACCCCAAGTAAACCCTGCACTTGTACCTTGAAGACTTCTCTGCAGTTCATTCCATTTACACTACCTCCTACCCTGGGTCAGACACTCGAATCCTGGTTCCTGTTCTCCGTTCTCCCCTCACTTGCTCCCAGATAGGGCTGTTGTTATTCTGGTCCCAGCATAATTTGCCACTTGTGTGACCAGGCAGTGACGGTGGCATCATATGATAGGCCTCAGGGAGAAATCTGACTCTTCCAACATTAATCCTTCAGACACCCCAATATCCTGCGCCTGTATAACTATTTCCATGATGCACGCCGGGTGTACCTGATTCTGGAATATGCTCCAAGGGGTGAGCTCTACAAGGAGCTGCAGAAAAGCGAGAAATTAGATGAACAGCGCACAGCCACGGTGAGGTGCGGGTCTGGAGGCTCTGGGGTCTCTGAGTTTACTGTGGGCTGGTGGGAGCTCTGTTTGTGGCTGTCAGGAGGGTCCGCATTGCCTTCTGAGAAGTTTACTTCTGAATGTTATTGTGTAAATTTAATATAATGGCACGTATGTTCTACAGCTTTATCCTTGGATACCCTAATTAACCTCATTGTATCTCCAGAATATTAATAAGTACTGCGTATAGGTTTGGATTCTTTGGTTATAAGCAACAGAATCTAACTCCACTGCCTTATGTAAAGAAACATATTGAAAGGCTCTGAAGGAGTTCACTGAATAAATAGCTAGAACTGGCTTAGAGATAGGTACAAAGAGATTTCTAGAGGGTTCCGGAAAGGGAACCATGGCAATGATTTTCCCAGGAGCAATGGTCCAATCAGCTTGCTGTGTCAGGATGAGTGGTCTTCCATCTTTCCTCCTGTTTCTGTTTCACTTCCTCGGGCCTCAAGTCCTGTGAGAGATCATCTGAGTGGCTCAATGTAGGTTCTATGTCTGGCTACTTGCTGTGCTAGGACAACAGGGAGGATCTGTGTCCATGTTACCATCCATCCTATAAGACCACATAAAAAGGAGAGGAAAACCACACCCCACACACCAGTAACTGGTGCAATTTAAAAGGAGGAAATGGAGTTACTGGACCAAAAAGATTCCACTGTAATCATACAATTCATGGTAAGTGTTCCACCTCAGACGGAAATTGTGGCAGGCTTCACTTCCAGGGTGACTTTTCTTTGCACCCACAGATAATAGAGGAGTTGGCAGATGCCCTGACCTACTGCCATGACAAGAAAGTGATTCACAGAGATATTAAGCCAGAGAACCTGCTGCTGGGGTTCAGGGGTGAGGTGAAGATTGCAGATTTTGGCTGGTCTGTGCACACCCCCTCCCTGAGGTAGGTCAGGTGGTGGTGGTAGGGTGAGTTCTGAGTACCAGTTAGGAATGACCCAGTTTAATGTATTTCATGTGTCCATGTGTAAAACCTAGATACGAACTTGGGGTTTCTATTGGAATACTGCCTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTGAGACAGAGTCTAACTCTTTCACCCAGGCTGGAGTGCAGGGGCACAATCTCGGCCTCCCAGGTTAAAGCGGTTCTACTGCCTCAGTCTCCCAAGTAGCTGGGATAACAGGCATGTGCCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCTATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCTGGCTGAACTACTGCCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTAGATTGCAATA
|
CTTTTTTGTTTTTGGGTTTTTTTGTTTTTGTTTTTGTTTTTTTTGAGACAGAGTCTCGTTCTCCTTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCGATTCTCTTGCCTCAGCCTTTTGAGTAGGTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTAGTAGAAACGGGGTTTCGCCCTGTTGGCCAGGCTGGTCTCGAACTGCCTACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATCACGCCAGGCCTTCAATTATATTTCTGCAAGATATGTTCCCTGTCTAAAAGAATTCAATTTTTAATGTTTTTGAAACTTATGTGTTTGCTAAACAAATACGTGGGGGCTGATTTTACGATCTGAGGCCAAATCCACAAACTGATTACAGGGTCCAACAAATATTTGGCGAGTGGGAGGAGAGGGGTAAGTGAGCTGGACTGGTGGCGTCCTGGCTGTGAGCAGGCACAGCCGCAGGCTTCAGGGAGCCCCATCGCGGTGACCCTGGAGAGTGGCCTGAATCGGACGTGACCTTGAAGCAAGGTGGTTTTGGGGTCGCCGGCTGCACAAGGCGCGAAGTGGTTTAGGGTCACGGGCTGCACGAGGCTCCAGCACGTCAGGAGTGGGCGTCTGTTCATTCCCACGTGCATCGCGGCTCTCTCCTAGTTGACGCATGCACACCCCGTGGGTGTATGCGTTGTTCATTCCCACAACGGCCATCACCACCTCTCCGCACCCTCTGTCTCCTTCCTTCTCGGGCCTCACCCCTGGCCCTCGCTTTCAGTGCCCAGCCCGGACCGCAGCACTCCAGTTCCGCCCCAACCCGGGAACCCTGGACTGAGGCTCCCGTTTCTGTCCTTTCTATTGGGCGCACTTCCGATGGCGTCAGGAATTTCAGCCAATAGGAGCCAGCCAGGAAGTACCTCTCTGAGCGGTTGGTGCCGGGTATAAAAGAAGGCCGCGCAGCCACGGCTGCTCACGACGCCGCGGATCCCGAAGCCTGTGTAGCAGTGAGACATCAGTGAGGCTGCAGGACGAGCAGGATTGGAAGCGCCCCGGCCAGAAAGTGACCCCCCACCCCTTTCAGGACCCTGTGAACGGGAACAGCCATCCAGAGGGTTCAGGAAGGCGTCCGCGCCCTCACCTCTTCTCCCCATGAGCTCCCCCAGAGCTGTGGTGCAGCTGGGCAAAGCTCAACCTGCAGGCGAAGAGTGTGAGAGCCAGCGCCAGAGAAAGGACGCAGGGAAGGCTGGGGACTGGGCCAGGGGTCGGGTGCACAGAAGACACATGTGTTGACATCTCCCCTCCCTCTCCTCCTCCCCAACGCTCTTCTTTTCTCCCCACTCCCTCCCTTCCCTCCAATTCTTTCTTTCACCTCTCCCTCCCCTACTCTCTCCTCCCCTTCCTTTCTCTCTGCCTCTTCTTCACCTCCTCCTCCCCTCCCTACCTTACCTTACTCTTTCTTCTTCCCCTTACCTCTCCCTCCCCCTCTCCCTGCCTTCCCCTTCCCTCTCTTTCTCTCCTCCCCTTCTTCCCCTCACCTCTCGCTCCCTATTCCCTTCTCTACTGTTCTCCTCTCCTCTCTTTCTCTCCCCTTCTCCTTCCCTCCCCTCTCCCTTCCTATCTCCCTCCTCCTCCTCTCTTTCAGTGGCTACAGCAAACCAAACAGCCCAGCAGCCCAGCAGCCCAGCCATGTGAGTCCCTTGGGATTGGTATCTGGAAAAGGAAGGAAGGTGGGACGTGGGGATGAAGAACAGACTGGGTGTGTGGGGTGCTGGCTCCTGGGAACGAGAACTACTGATAGGGCTGGGTCTGTGTGAGAAGGGAAAGCGGCAGAGGAAGGATACAATGAAAGAGGAAGGGGAGCATTGGCATCCCTGACTTTCCCTCCGCCTACCCTACCTCCCAAGCTGAGGCTTTTTTCTTCCTCTCCTGTCAGGCGGCGCCTCACAGTCGATGACTTTGAAATCGGGCGTCCCTGGGCAAGGGGAAATTTGGGAATGTGTACCTGGCTCGGCTCAAGGAAAGCCATTTCATTGTGGCCCTGAAGGTTCTCTTCAAGTCGCAGATAGAGAAGGAAGGACTGGAGCACCAGCTGCGCCGGGAAATTGAGATCCAGGCTCATCTACAGTAAGGACAGTCTCTGCTTCCTCTTTCATCTTTGACGTCTGAGCCCAGCATTTTCCCCAAATACTAACCCCAAGTAAACCCTGCACTTGTACCTTGAAGACTTCTCTGCAGTTCATTCCATTTACACTACCTCCTACCCTGGGTCAGACACTCGAATCCTGGTTCCTGTTCTCCGTTCTCCCCTCACTTGCTCCCAGATAGGGCTGTTGTTATTCTGGTCCCAGCATAATTTGCCACTTGTGTGACCAGGCAGTGACGGTGGCATCATATGATAGGCCTCAGGGAGAAATCTGACTCTTCCAACATTAATCCTTCAGACACCCCAATATCCTGCGCCTGTATAACTATTTCCATGATGCACGCCGGGTGTACCTGATTCTGGAATATGCTCCAAGGGGTGAGCTCTACAAGGAGCTGCAGAAAAGCGAGAAATTAGATGAACAGCGCACAGCCACGGTGAGGTGCGGGTCTGGAGGCTCTGGGGTCTCTGAGTTTACTGTGGGCTGGTGGGAGCTCTGTTTGTGGCTGTCAGGAGGGTCCGCATTGCCTTCTGAGAAGTTTACTTCTGAATGTTATTGTGTAAATTTAATATAATGGCACGTATGTTCTACAGCTTTATCCTTGGATACCCTAATTAACCTCATTGTATCTCCAGAATATTAATAAGTACTGCGTATAGGTTTGGATTCTTTGGTTATAAGCAACAGAATCTAACTCCACTGCCTTATGTAAAGAAACATATTGAAAGGCTCTGAAGGAGTTCACTGAATAAATAGCTAGAACTGGCTTAGAGATAGGTACAAAGAGATTTCTAGAGGGTTCCGGAAAGGGAACCATGGCAATGATTTTCCCAGGAGCAATGGTCCAATCAGCTTGCTGTGTCAGGATGAGTGGTCTTCCATCTTTCCTCCTGTTTCTGTTTCACTTCCTCGGGCCTCAAGTCCTGTGAGAGATCATCTGAGTGGCTCAATGTAGGTTCTATGTCTGGCTACTTGCTGTGCTAGGACAACAGGGAGGATCTGTGTCCATGTTACCATCCATCCTATAAGACCACATAAAAAGGAGAGGAAAACCACACCCCACACACCAGTAACTGGTGCAATTTAAAAGGAGGAAATGGAGTTACTGGACCAAAAAGATTCCACTGTAATCATACAATTCATGGTAAGTGTTCCACCTCAGACGGAAATTGTGGCAGGCTTCACTTCCAGGGTGACTTTTCTTTGCACCCACAGATAATAGAGGAGTTGGCAGATGCCCTGACCTACTGCCATGACAAGAAAGTGATTCACAGAGATATTAAGCCAGAGAACCTGCTGCTGGGGTTCAGGGGTGAGGTGAAGATTGCAGATTTTGGCTGGTCTGTGCACACCCCCTCCCTGAGGTAGGTCAGGTGGTGGTGGTAGGGTGAGTTCTGAGTACCAGTTAGGAATGACCCAGTTTAATGTATTTCATGTGTCCATGTGTAAAACCTAGATACGAACTTGGGGTTTCTATTGGAATACTGCCTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTGAGACAGAGTCTAACTCTTTCACCCAGGCTGGAGTGCAGGGGCACAATCTCGGCCTCCCAGGTTAAAGCGGTTCTACTGCCTCAGTCTCCCAAGTAGCTGGGATAACAGGCATGTGCCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCTATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCTGGCTGAACTACTGCCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTAGATTGCAATAN
|
pathogenic
| 310,388 |
Is the variant located on chromosome 20 at position 417395, gene RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
benign
|
GACAGAAGTGAGACCCTGTCTCAAAAAAAACAAAAACAAACAAAACCCCTCAATACTATTATCACACCTTAGAAAAGGAATAAGAATTCCTTAAAATCCGCTAATGCCCTGTTTATATTCACATTTTCCTATTTCATTAGTGCTTTTTACAATTGGTTTCTTCAAATCAGGAGCCAAACAAGATCTACATGTAGCATTTCTTACTATGTCTTAAGTCCCTTTTACTCTCCTCTATTTTTATGCCACTAGTTTTTTTTTTAAGAAACCTGGTCTTTTGACCTCTAGAATTTTCCCCATATTCTGGATCTATCCATTACCTCTTCATGGTATGTATTAGACCACTCTAGCATTGCTACAAAGAAATATCTGAGACTGGGTAATTTGTAAAGAAAAGAGGTTTAATTGACTCAGTTCTGCAGGTGGTGTAGGAAGCATGGTCCTGACATTTGCTTGGCTTCTGGGGAGGCCTCAGTGAACTTTTACTGAAGCGGGAGCAGGCACTTCACATGGTGAGAGAGGGAGCAAGAGAGAGAGTTGGTGGGGAGGTGCCACACTTTACAACAGCCAGATCTCACGAGGACTCACTATGGCGAGAAGTCACTACAGTGAGCGCAGCACCAGGCTGTGAGGGAGCTGCCCCTATGACCCAAACACCTCCCACCAGGCCTCACCTTCAACACTGAGGATTACAGTTCAAGGTAAGATTTGGGCAGGGACAAATACCCAGACTATCATGGTGTCATTTACTATCTCCCGTTTTTCCTGTAACTGGTAGTTAGAGATAAAGTTTCAATTAGTCAGCAGTCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTGGAGTGCGGTGGCGCAATCTTGGCTCACTGCACGGTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAATCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCGTGCCTGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTCAGCAGTCACTTTTAATGTGCAGGAACTCTTCCTCATTTTTTGGTTGCTTCATGCCTTTCCTTGCTTTCTGAATGCAGTGTTTTCCCAAATCTCTCTGAAGGTACTAGTTAGACTTCACTGTTGCTTATTGTTCCATACCCTAAATGATCTCTGTTTCCTTTGGGGTCGGTTCTGTTTTTTCATCTTTTCATGCTTTTGATTTTCCAAACATGTTGGAGGATCCTCAAGAAAGTTAAAACCACTTTCTCTGGAATAATACCATGTAGATTTAAATCCTGCCTCTGGCTGAACACAGTGGCTTACTCCTGTAATCCCACTTCGGGAGGCCAAGGCAGGAGGATCACTTGAGGCCAAGAGTTCAAGACCAGCTTTGGCAACATAGTGAGACCCTGTCTCTACAAAAACTTAAAAAATTAGCCAGGCATGGTGGCATGAGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGATGGGAAGAGCCCAGGAGGTTGATACTGCAGTGAGCCAAGGTAGCACTACTGCACTCCAGCCTGGGCCACAGAAAGAGAGCCTGTGTCTTAAAATTAAATCAAGACATACAAATGAATCCTGCCTCTAACAGTTATTAGTTGCTTAGTTTGGCAGAGTCACTGGAACCTATCTGTGCCTCACATTTTTATCTGTAAAACAGGGATACAGCAGTACCTGTCTGATGGGTTGGTTGAGAGGATTAAATGAGTTAATACACATGAAGTGCATTAAATAGTCTTAGCACGTAGTTAACAACAACTTCTGGTGGTTTCACTAAGGAGCAGGGGAGAGAAGACAGAAGAGGTTGGAGAGGTCAGGGAGGTGCCAGATCATGGAGGCCCTCGTGTGCTGCCACGAGTTGATTCTAAGAGTAGCGTGGAGCCATTGGAGGGGCCTAACTGGTGGGTTCTAATAAAGGAAGAAGCATGGGTGGGGCCTACCCCAGACTGGGGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATGGCCATGTGCCTGTGTGCAAATATGTACATGTCTGTAGCCGGTGGCTGAGGCTGGACCCCTGGCCAGAGCCCATGCTGAGCCCCTGCTGTTCTCTGCAGGCTGTGGGTGAGCGTGGAGGATGCTCAGATGCACACCGTCACCATCTGGCTCACAGTGCGCCCTGATATGACAGTGGCGTCTCTCAAGGACATGGTGAGTGAGGAGGCGGAGGGCGACACTGGGGTGAAGGCTCTCCCTTTCACTCCTGCTTCCTCTCTCTCCTCTGGCCCTCCCTTCCCACTCTCCCTCTCTTTGCCCCCACCAGGTTTTTCTGGACTATGGCTTCCCACCAGTCTTGCAGCAGTGGGTGATTGGGCAGCGGCTGGCACGAGACCAGGAGACCCTGCACTCCCATGGGGTGCGGCAGAATGGGGACAGTGCCTACCTCTATCTGCTGTCAGCCCGCAACACCTCCCTCAACCCTCAGGAGCTGCAGCGGGAGCGGCAGCTGCGGATGCTGGAAGGTGAGGCTCTGCCCTGAGCACCGCCGGACCCAGCGGGGGCCCTGGACTCACTTGAGGGCATAGGGCAAGCAGGGGCAGAGCCCCTGGGTTTTTAGTCAGGGACTCACCCAGAGGACCCTATCCAAGTGGGGAAGAGAGGACCTAAGACACATGGGAGGGAGCATTTCAGGGACCCATCATGAGAACAGCTGGCACGGGGAGGGGTGGACTCCGTCCAGGCTCCGGCATTCCCAGCTGTGTGACCTTGGGCAAGGTTGCTCCTATCTGCTGCCCAGTTTGCTAAAATCATAAATTGGGTATGACAGTGATCGTGATAACTAGTGTTTATTCTTAATTTTTAACTTCTGAAATGTTTCAGACCTACAGAAAAGTTGCTAAATTTTACAAAGTAGTACATAAAGAATTCCCATGTACCTTTCATGTGGGTTTTACCACATGTGCTTTCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGACTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAACCCACATTTGCTTTCTTTTATCATTCTCTTTCTATATAAAATTATTTTTTTTCTGAACCATTTTGAGAGTAAGTTGCAGACATGATGTCTCTTTCCCCTAAATAATTCAGTGTGCATTTCCTTGAAAAGAAAGGTCATTTTCTTACATTACTGGGTATAACAATCCAACTCAGGAAACTAACGCTGATACAGTACTGGTATCCAGTCTACAGATCTTACTCAGATTTTACCAGTTGTCCCACTATTGTCATTTATAGCAAAAGACTTGGCATTCTGCTGTCATGTCTCAGTCCCTTTCAAAGAGTCCAGGCCAGTTTCTTTTTTTTGGCGGGGGTTGGGGGCTGATGTTTCCTCCGGAGTGGATCAAGTCACTGTTTTGGCAGGACCGCCTCAGCGGTGCTCTTGGGTCCCTCTTGGTGCATCCTTCAGGAGGCACGGAAGGGCTGGTGTTGTGCTGGGTTTTGAAGCTCAAAGGACATAGAAGCATTTATCGGTGGAATAGGGACCCTGACCCTGGGGGAGCCAGGATGCCCACTTGGCCAGATGGAAGCTGGAGGTACCCCCAGGGAGGAGGGAGAGGATAGGGGGAGGGTCTGCCTGGCTGGCTCAGGGAGACCCACCCCCATGGGTGTGGACCAAGTGGGCCGCGTGGAACCACCACCCTTTAACCCTCCTCCACAGATCTGGGCTTCAAGGACCTCACGCTGCAGCCGCGGGGCCCTCTGGAGCCAGGCCCCCCAAAGCCCGGGGTCCCCCAGGAACCCGGACGGGGGCAGC
|
GACAGAAGTGAGACCCTGTCTCAAAAAAAACAAAAACAAACAAAACCCCTCAATACTATTATCACACCTTAGAAAAGGAATAAGAATTCCTTAAAATCCGCTAATGCCCTGTTTATATTCACATTTTCCTATTTCATTAGTGCTTTTTACAATTGGTTTCTTCAAATCAGGAGCCAAACAAGATCTACATGTAGCATTTCTTACTATGTCTTAAGTCCCTTTTACTCTCCTCTATTTTTATGCCACTAGTTTTTTTTTTAAGAAACCTGGTCTTTTGACCTCTAGAATTTTCCCCATATTCTGGATCTATCCATTACCTCTTCATGGTATGTATTAGACCACTCTAGCATTGCTACAAAGAAATATCTGAGACTGGGTAATTTGTAAAGAAAAGAGGTTTAATTGACTCAGTTCTGCAGGTGGTGTAGGAAGCATGGTCCTGACATTTGCTTGGCTTCTGGGGAGGCCTCAGTGAACTTTTACTGAAGCGGGAGCAGGCACTTCACATGGTGAGAGAGGGAGCAAGAGAGAGAGTTGGTGGGGAGGTGCCACACTTTACAACAGCCAGATCTCACGAGGACTCACTATGGCGAGAAGTCACTACAGTGAGCGCAGCACCAGGCTGTGAGGGAGCTGCCCCTATGACCCAAACACCTCCCACCAGGCCTCACCTTCAACACTGAGGATTACAGTTCAAGGTAAGATTTGGGCAGGGACAAATACCCAGACTATCATGGTGTCATTTACTATCTCCCGTTTTTCCTGTAACTGGTAGTTAGAGATAAAGTTTCAATTAGTCAGCAGTCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTGGAGTGCGGTGGCGCAATCTTGGCTCACTGCACGGTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAATCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCGTGCCTGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTCAGCAGTCACTTTTAATGTGCAGGAACTCTTCCTCATTTTTTGGTTGCTTCATGCCTTTCCTTGCTTTCTGAATGCAGTGTTTTCCCAAATCTCTCTGAAGGTACTAGTTAGACTTCACTGTTGCTTATTGTTCCATACCCTAAATGATCTCTGTTTCCTTTGGGGTCGGTTCTGTTTTTTCATCTTTTCATGCTTTTGATTTTCCAAACATGTTGGAGGATCCTCAAGAAAGTTAAAACCACTTTCTCTGGAATAATACCATGTAGATTTAAATCCTGCCTCTGGCTGAACACAGTGGCTTACTCCTGTAATCCCACTTCGGGAGGCCAAGGCAGGAGGATCACTTGAGGCCAAGAGTTCAAGACCAGCTTTGGCAACATAGTGAGACCCTGTCTCTACAAAAACTTAAAAAATTAGCCAGGCATGGTGGCATGAGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGATGGGAAGAGCCCAGGAGGTTGATACTGCAGTGAGCCAAGGTAGCACTACTGCACTCCAGCCTGGGCCACAGAAAGAGAGCCTGTGTCTTAAAATTAAATCAAGACATACAAATGAATCCTGCCTCTAACAGTTATTAGTTGCTTAGTTTGGCAGAGTCACTGGAACCTATCTGTGCCTCACATTTTTATCTGTAAAACAGGGATACAGCAGTACCTGTCTGATGGGTTGGTTGAGAGGATTAAATGAGTTAATACACATGAAGTGCATTAAATAGTCTTAGCACGTAGTTAACAACAACTTCTGGTGGTTTCACTAAGGAGCAGGGGAGAGAAGACAGAAGAGGTTGGAGAGGTCAGGGAGGTGCCAGATCATGGAGGCCCTCGTGTGCTGCCACGAGTTGATTCTAAGAGTAGCGTGGAGCCATTGGAGGGGCCTAACTGGTGGGTTCTAATAAAGGAAGAAGCATGGGTGGGGCCTACCCCAGACTGGGGTTTGTGTGTGTGTGTGTGTGTGTGTGTGCATGGCCATGTGCCTGTGTGCAAATATGTACATGTCTGTAGCCGGTGGCTGAGGCTGGACCCCTGGCCAGAGCCCATGCTGAGCCCCTGCTGTTCTCTGCAGGCTGTGGGTGAGCGTGGAGGATGCTCAGATGCACACCGTCACCATCTGGCTCACAGTGCGCCCTGATATGACAGTGGCGTCTCTCAAGGACATGGTGAGTGAGGAGGCGGAGGGCGACACTGGGGTGAAGGCTCTCCCTTTCACTCCTGCTTCCTCTCTCTCCTCTGGCCCTCCCTTCCCACTCTCCCTCTCTTTGCCCCCACCAGGTTTTTCTGGACTATGGCTTCCCACCAGTCTTGCAGCAGTGGGTGATTGGGCAGCGGCTGGCACGAGACCAGGAGACCCTGCACTCCCATGGGGTGCGGCAGAATGGGGACAGTGCCTACCTCTATCTGCTGTCAGCCCGCAACACCTCCCTCAACCCTCAGGAGCTGCAGCGGGAGCGGCAGCTGCGGATGCTGGAAGGTGAGGCTCTGCCCTGAGCACCGCCGGACCCAGCGGGGGCCCTGGACTCACTTGAGGGCATAGGGCAAGCAGGGGCAGAGCCCCTGGGTTTTTAGTCAGGGACTCACCCAGAGGACCCTATCCAAGTGGGGAAGAGAGGACCTAAGACACATGGGAGGGAGCATTTCAGGGACCCATCATGAGAACAGCTGGCACGGGGAGGGGTGGACTCCGTCCAGGCTCCGGCATTCCCAGCTGTGTGACCTTGGGCAAGGTTGCTCCTATCTGCTGCCCAGTTTGCTAAAATCATAAATTGGGTATGACAGTGATCGTGATAACTAGTGTTTATTCTTAATTTTTAACTTCTGAAATGTTTCAGACCTACAGAAAAGTTGCTAAATTTTACAAAGTAGTACATAAAGAATTCCCATGTACCTTTCATGTGGGTTTTACCACATGTGCTTTCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGACTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAACCCACATTTGCTTTCTTTTATCATTCTCTTTCTATATAAAATTATTTTTTTTCTGAACCATTTTGAGAGTAAGTTGCAGACATGATGTCTCTTTCCCCTAAATAATTCAGTGTGCATTTCCTTGAAAAGAAAGGTCATTTTCTTACATTACTGGGTATAACAATCCAACTCAGGAAACTAACGCTGATACAGTACTGGTATCCAGTCTACAGATCTTACTCAGATTTTACCAGTTGTCCCACTATTGTCATTTATAGCAAAAGACTTGGCATTCTGCTGTCATGTCTCAGTCCCTTTCAAAGAGTCCAGGCCAGTTTCTTTTTTTTGGCGGGGGTTGGGGGCTGATGTTTCCTCCGGAGTGGATCAAGTCACTGTTTTGGCAGGACCGCCTCAGCGGTGCTCTTGGGTCCCTCTTGGTGCATCCTTCAGGAGGCACGGAAGGGCTGGTGTTGTGCTGGGTTTTGAAGCTCAAAGGACATAGAAGCATTTATCGGTGGAATAGGGACCCTGACCCTGGGGGAGCCAGGATGCCCACTTGGCCAGATGGAAGCTGGAGGTACCCCCAGGGAGGAGGGAGAGGATAGGGGGAGGGTCTGCCTGGCTGGCTCAGGGAGACCCACCCCCATGGGTGTGGACCAAGTGGGCCGCGTGGAACCACCACCCTTTAACCCTCCTCCACAGATCTGGGCTTCAAGGACCTCACGCTGCAGCCGCGGGGCCCTCTGGAGCCAGGCCCCCCAAAGCCCGGGGTCCCCCAGGAACCCGGACGGGGGCAGCNN
|
benign
| 310,468 |
Considering the variant on chromosome 20, location 419860, involving gene RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
benign
|
GCACTCCCATGGGGTGCGGCAGAATGGGGACAGTGCCTACCTCTATCTGCTGTCAGCCCGCAACACCTCCCTCAACCCTCAGGAGCTGCAGCGGGAGCGGCAGCTGCGGATGCTGGAAGGTGAGGCTCTGCCCTGAGCACCGCCGGACCCAGCGGGGGCCCTGGACTCACTTGAGGGCATAGGGCAAGCAGGGGCAGAGCCCCTGGGTTTTTAGTCAGGGACTCACCCAGAGGACCCTATCCAAGTGGGGAAGAGAGGACCTAAGACACATGGGAGGGAGCATTTCAGGGACCCATCATGAGAACAGCTGGCACGGGGAGGGGTGGACTCCGTCCAGGCTCCGGCATTCCCAGCTGTGTGACCTTGGGCAAGGTTGCTCCTATCTGCTGCCCAGTTTGCTAAAATCATAAATTGGGTATGACAGTGATCGTGATAACTAGTGTTTATTCTTAATTTTTAACTTCTGAAATGTTTCAGACCTACAGAAAAGTTGCTAAATTTTACAAAGTAGTACATAAAGAATTCCCATGTACCTTTCATGTGGGTTTTACCACATGTGCTTTCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGACTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAACCCACATTTGCTTTCTTTTATCATTCTCTTTCTATATAAAATTATTTTTTTTCTGAACCATTTTGAGAGTAAGTTGCAGACATGATGTCTCTTTCCCCTAAATAATTCAGTGTGCATTTCCTTGAAAAGAAAGGTCATTTTCTTACATTACTGGGTATAACAATCCAACTCAGGAAACTAACGCTGATACAGTACTGGTATCCAGTCTACAGATCTTACTCAGATTTTACCAGTTGTCCCACTATTGTCATTTATAGCAAAAGACTTGGCATTCTGCTGTCATGTCTCAGTCCCTTTCAAAGAGTCCAGGCCAGTTTCTTTTTTTTGGCGGGGGTTGGGGGCTGATGTTTCCTCCGGAGTGGATCAAGTCACTGTTTTGGCAGGACCGCCTCAGCGGTGCTCTTGGGTCCCTCTTGGTGCATCCTTCAGGAGGCACGGAAGGGCTGGTGTTGTGCTGGGTTTTGAAGCTCAAAGGACATAGAAGCATTTATCGGTGGAATAGGGACCCTGACCCTGGGGGAGCCAGGATGCCCACTTGGCCAGATGGAAGCTGGAGGTACCCCCAGGGAGGAGGGAGAGGATAGGGGGAGGGTCTGCCTGGCTGGCTCAGGGAGACCCACCCCCATGGGTGTGGACCAAGTGGGCCGCGTGGAACCACCACCCTTTAACCCTCCTCCACAGATCTGGGCTTCAAGGACCTCACGCTGCAGCCGCGGGGCCCTCTGGAGCCAGGCCCCCCAAAGCCCGGGGTCCCCCAGGAACCCGGACGGGGGCAGCCAGATGCAGTGCCTGAGCCCCCACCGGTAAGCTGTCCTTGGCCTCAGTATCCTCTTCTGTGCCCCTCCCTTGCCTCACCCTGCCCAGTCGGGCTCACAGCACCCTCTGCTCCCAGGTGGGCTGGCAGTGCCCCGGGTGCACCTTCATCAACAAGCCCACGCGGCCTGGCTGTGAGATGTGCTGCCGGGCGCGCCCCGAGGCCTACCAGGTCCCCGCCTCATACCAGCCCGACGAGGAGGAGCGAGCGCGCCTGGCGGGCGAGGAGGAGGCGCTGCGTCAGTACCAGCAGGTGGGCGGGAAAGTCCCTGGACAGACACCTGCAGACCGCACGGGGGAGGTGTAGGCCAGGAAGGGAGACACCTGCGCACTGCCGCGCCTCTCCGTTACTGCCTTGCCCCTCCCAACCATGCTGCTGGCAGTGACCCTGCACCTGGCTGTGACCCTGCACCTGGCTGTGACCTGCCCTCTCTCAAAGGTCACCCTGTGGCTGAGACCCGCTCCCTGGCTGTGGCGCACATCCAGGTTCACATGCCCCACTCCCACGTGGGCTGTGGCTCCATCCCCAGCTTTGACACACCACACGAGTATGGCTGGCCATGACCCCAGCACCCTAGCCATGACCCCAGCACCCTAGCCATGACCACACCTCAGCTCGGACCTCACCCCCACCCGTCTGTGACCTAAGCCTGCTCCACCTCGCCGTGACCTCACCCTGGACTCTCCTACTCCTGACCTCTTCCCTCTCGGGCTGGGCCCACCCCTGACTTCCTGAGAGCCTGGCCTGGACCCTCGCTGCGCCCTAGGGGGATGACCCCCGACCCCGGTCCTACGCCTTAGCCCTACCCCGCCCCCATCGTGACACACGCACTAATGACACAGACATTGATCCCCGAGTGCTCCCCATTCTGATCTCACCCCTGGCCCCACCTGCATTCCCCTTGGACCCGGTGCTGCCCCTGGCCACCCCACTCCTGTTCCCGTCTCAGCTCCTCGGCTTCGTCACTTCCCCACCCCTGACGTTGAGTGGCTCCACCAGCCCTGGCCCGGGCCCTGCCCTGCTACCTGACTCACCACTCAGACCCCGGCCCCCTTCCTTACCTTGCTGCCATTGCTGTCTCACCTGGCGCCTTCCGTGGCTACCTGGCCGGCCTCCCCTCCCTTGGCTTCCCCACCTCCACCTGGCCTCACTCCCAGCCCCGCCCCTCCCAACCTGCCTGCTCCTGCCCATCCCCCACCCCCCACCCCCCATCCCCCAGCCCCACCCCCATCCCCCACCCCCGTCCCCCATCCCCCATCCCTACTGGCTCCCAGCTTTGCCTGTGGCTGGTCTGACCCAGCCCTGACCACGCCCCCTGGCCCTTCCCCCTTCGGGGTCTGACCCGCCCCCGAGGCCCTGACCCGCCCCGTGGCCCCGCCCCGTGTGCCCAGCGGAAGCAGCAGCAGCAGGAGGGGAACTACCTGCAGCACGTCCAGCTGGACCAGAGGAGCCTGGTGCTGAACACGGAGCCCGCCGAGTGCCCCGTGTGCTACTCGGTGCTGGCGCCCGGCGAGGCCGTGGTGCTGCGTGAGTGTCTGCACACCTTCTGCAGGTGCGGCCCCCAGTCCCACCCCCGGCAATGCAGCTTAATCAAAGCCGCCAATTACGCAGGGCTGGACGTGGGTGGGGCCCTGTGCTCTGATACCTCATTGGACGCCCGCGAAAACCTACGAGGTAGGCTCCGTCTCCCCATGTTGCGGACGAGGAACCTGAGGGAAAGAGAGGCCCAGCGCCTTACCCCAGGCCCACGGCTCATGAGAGAAGCAGCCTAGACGTGAGCGCAGGCGTGGGGGGAGACTCCCTTCCCCTCTACCTTTCGCCGCCCGGGCTCCTGCAGCCACGCTGCTCTCAGCCTCGCTGTGGGCATCTGCCAGTTTCTGAGTCTCCTGTCATGGCCCCCCCACCCCTGAATGTGGGGAACACAGACCCGCTCACCACAGCGGACCCTTGTGGAGCCGCCCCTGGGTGACAGGCTCCGTGCCTGCCTCCTGCAGCTTACATTCCAGCAGAGAGGCTGATGAGAATCGGATAATCGCTGGTTGATGTCTTTGTGAATTGTGTCAAATGCTACATACAGTACATTAAGAGACAACAGGAGTCCTTCCCAGAGAGGGTGGTCTGGAAGCTTCCAAGGAGGTAGCCCCAGAGCAGGGACCGGAAGGCCTGCTGTAGGTGTGGGGTGTGGGCCTGGCCTGTTGGAGGAGACTGAGGAGGTCTCTTGGTGGCTGGAGCAGAGGGATGAAGGGGGTAATCAGAGCAGGATAGAGAGGTGTTGGGTACGTGAGCAGCAGTGAGGAGTTGGGATTTGTTCTGGGTAGGATGGGAGTCACTGGGGAGACATGGCTGCTGTTCTGAGATAGACTCTAGGGGCCAGATGGATGCAGGGAGCCCAGCGAGGAGGCTCCTGGAGTCACCCAGGTGGGGGATG
|
GCACTCCCATGGGGTGCGGCAGAATGGGGACAGTGCCTACCTCTATCTGCTGTCAGCCCGCAACACCTCCCTCAACCCTCAGGAGCTGCAGCGGGAGCGGCAGCTGCGGATGCTGGAAGGTGAGGCTCTGCCCTGAGCACCGCCGGACCCAGCGGGGGCCCTGGACTCACTTGAGGGCATAGGGCAAGCAGGGGCAGAGCCCCTGGGTTTTTAGTCAGGGACTCACCCAGAGGACCCTATCCAAGTGGGGAAGAGAGGACCTAAGACACATGGGAGGGAGCATTTCAGGGACCCATCATGAGAACAGCTGGCACGGGGAGGGGTGGACTCCGTCCAGGCTCCGGCATTCCCAGCTGTGTGACCTTGGGCAAGGTTGCTCCTATCTGCTGCCCAGTTTGCTAAAATCATAAATTGGGTATGACAGTGATCGTGATAACTAGTGTTTATTCTTAATTTTTAACTTCTGAAATGTTTCAGACCTACAGAAAAGTTGCTAAATTTTACAAAGTAGTACATAAAGAATTCCCATGTACCTTTCATGTGGGTTTTACCACATGTGCTTTCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGACTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAACCCACATTTGCTTTCTTTTATCATTCTCTTTCTATATAAAATTATTTTTTTTCTGAACCATTTTGAGAGTAAGTTGCAGACATGATGTCTCTTTCCCCTAAATAATTCAGTGTGCATTTCCTTGAAAAGAAAGGTCATTTTCTTACATTACTGGGTATAACAATCCAACTCAGGAAACTAACGCTGATACAGTACTGGTATCCAGTCTACAGATCTTACTCAGATTTTACCAGTTGTCCCACTATTGTCATTTATAGCAAAAGACTTGGCATTCTGCTGTCATGTCTCAGTCCCTTTCAAAGAGTCCAGGCCAGTTTCTTTTTTTTGGCGGGGGTTGGGGGCTGATGTTTCCTCCGGAGTGGATCAAGTCACTGTTTTGGCAGGACCGCCTCAGCGGTGCTCTTGGGTCCCTCTTGGTGCATCCTTCAGGAGGCACGGAAGGGCTGGTGTTGTGCTGGGTTTTGAAGCTCAAAGGACATAGAAGCATTTATCGGTGGAATAGGGACCCTGACCCTGGGGGAGCCAGGATGCCCACTTGGCCAGATGGAAGCTGGAGGTACCCCCAGGGAGGAGGGAGAGGATAGGGGGAGGGTCTGCCTGGCTGGCTCAGGGAGACCCACCCCCATGGGTGTGGACCAAGTGGGCCGCGTGGAACCACCACCCTTTAACCCTCCTCCACAGATCTGGGCTTCAAGGACCTCACGCTGCAGCCGCGGGGCCCTCTGGAGCCAGGCCCCCCAAAGCCCGGGGTCCCCCAGGAACCCGGACGGGGGCAGCCAGATGCAGTGCCTGAGCCCCCACCGGTAAGCTGTCCTTGGCCTCAGTATCCTCTTCTGTGCCCCTCCCTTGCCTCACCCTGCCCAGTCGGGCTCACAGCACCCTCTGCTCCCAGGTGGGCTGGCAGTGCCCCGGGTGCACCTTCATCAACAAGCCCACGCGGCCTGGCTGTGAGATGTGCTGCCGGGCGCGCCCCGAGGCCTACCAGGTCCCCGCCTCATACCAGCCCGACGAGGAGGAGCGAGCGCGCCTGGCGGGCGAGGAGGAGGCGCTGCGTCAGTACCAGCAGGTGGGCGGGAAAGTCCCTGGACAGACACCTGCAGACCGCACGGGGGAGGTGTAGGCCAGGAAGGGAGACACCTGCGCACTGCCGCGCCTCTCCGTTACTGCCTTGCCCCTCCCAACCATGCTGCTGGCAGTGACCCTGCACCTGGCTGTGACCTGCCCTCTCTCAAAGGTCACCCTGTGGCTGAGACCCGCTCCCTGGCTGTGGCGCACATCCAGGTTCACATGCCCCACTCCCACGTGGGCTGTGGCTCCATCCCCAGCTTTGACACACCACACGAGTATGGCTGGCCATGACCCCAGCACCCTAGCCATGACCCCAGCACCCTAGCCATGACCACACCTCAGCTCGGACCTCACCCCCACCCGTCTGTGACCTAAGCCTGCTCCACCTCGCCGTGACCTCACCCTGGACTCTCCTACTCCTGACCTCTTCCCTCTCGGGCTGGGCCCACCCCTGACTTCCTGAGAGCCTGGCCTGGACCCTCGCTGCGCCCTAGGGGGATGACCCCCGACCCCGGTCCTACGCCTTAGCCCTACCCCGCCCCCATCGTGACACACGCACTAATGACACAGACATTGATCCCCGAGTGCTCCCCATTCTGATCTCACCCCTGGCCCCACCTGCATTCCCCTTGGACCCGGTGCTGCCCCTGGCCACCCCACTCCTGTTCCCGTCTCAGCTCCTCGGCTTCGTCACTTCCCCACCCCTGACGTTGAGTGGCTCCACCAGCCCTGGCCCGGGCCCTGCCCTGCTACCTGACTCACCACTCAGACCCCGGCCCCCTTCCTTACCTTGCTGCCATTGCTGTCTCACCTGGCGCCTTCCGTGGCTACCTGGCCGGCCTCCCCTCCCTTGGCTTCCCCACCTCCACCTGGCCTCACTCCCAGCCCCGCCCCTCCCAACCTGCCTGCTCCTGCCCATCCCCCACCCCCCACCCCCCATCCCCCAGCCCCACCCCCATCCCCCACCCCCGTCCCCCATCCCCCATCCCTACTGGCTCCCAGCTTTGCCTGTGGCTGGTCTGACCCAGCCCTGACCACGCCCCCTGGCCCTTCCCCCTTCGGGGTCTGACCCGCCCCCGAGGCCCTGACCCGCCCCGTGGCCCCGCCCCGTGTGCCCAGCGGAAGCAGCAGCAGCAGGAGGGGAACTACCTGCAGCACGTCCAGCTGGACCAGAGGAGCCTGGTGCTGAACACGGAGCCCGCCGAGTGCCCCGTGTGCTACTCGGTGCTGGCGCCCGGCGAGGCCGTGGTGCTGCGTGAGTGTCTGCACACCTTCTGCAGGTGCGGCCCCCAGTCCCACCCCCGGCAATGCAGCTTAATCAAAGCCGCCAATTACGCAGGGCTGGACGTGGGTGGGGCCCTGTGCTCTGATACCTCATTGGACGCCCGCGAAAACCTACGAGGTAGGCTCCGTCTCCCCATGTTGCGGACGAGGAACCTGAGGGAAAGAGAGGCCCAGCGCCTTACCCCAGGCCCACGGCTCATGAGAGAAGCAGCCTAGACGTGAGCGCAGGCGTGGGGGGAGACTCCCTTCCCCTCTACCTTTCGCCGCCCGGGCTCCTGCAGCCACGCTGCTCTCAGCCTCGCTGTGGGCATCTGCCAGTTTCTGAGTCTCCTGTCATGGCCCCCCCACCCCTGAATGTGGGGAACACAGACCCGCTCACCACAGCGGACCCTTGTGGAGCCGCCCCTGGGTGACAGGCTCCGTGCCTGCCTCCTGCAGCTTACATTCCAGCAGAGAGGCTGATGAGAATCGGATAATCGCTGGTTGATGTCTTTGTGAATTGTGTCAAATGCTACATACAGTACATTAAGAGACAACAGGAGTCCTTCCCAGAGAGGGTGGTCTGGAAGCTTCCAAGGAGGTAGCCCCAGAGCAGGGACCGGAAGGCCTGCTGTAGGTGTGGGGTGTGGGCCTGGCCTGTTGGAGGAGACTGAGGAGGTCTCTTGGTGGCTGGAGCAGAGGGATGAAGGGGGTAATCAGAGCAGGATAGAGAGGTGTTGGGTACGTGAGCAGCAGTGAGGAGTTGGGATTTGTTCTGGGTAGGATGGGAGTCACTGGGGAGACATGGCTGCTGTTCTGAGATAGACTCTAGGGGCCAGATGGATGCAGGGAGCCCAGCGAGGAGGCTCCTGGAGTCACCCAGGTGGGGGATGNNNNNNNNNNNNNNNNNN
|
benign
| 310,478 |
The mutation impacting CSNK2A1 (casein kinase 2 alpha 1) on chromosome 20 at position 499923: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Okur-Chung_neurodevelopmental_syndrome']
|
TTACCGTTGTTCCAAGATCTGTCCATTCACTGCCCTCTATTTCTCCAACATTACATTAACTTTAAAGAGATACTTTGGGTCTTCAACTCTTAAAAATGAAGAATTACTTAAACATATATTGCGGAAGCTATAATCCACTGTCAGAAACATACTGATCTAGATACGTTAATATGCACTGACACCCACCTATAATTTAGTTTGCTTTTCATGTATCTTCAGACCTTCTCAAAAGAGGCATTTTGGCAAATATACTGCCTCCTTAGTAGGGAACTAACTCATCTTTGCCTTACATAGTTGGCCCTGCAGATCACCAGTGGGTATGCAGATGGCATGATACCAAACCTGTTGAGTCAATTTAACAAAACTATTCTTGTTCCAATTGGAAAGTAAACTCTGAACAACTGTTATGTATCCTTTCCAGTTTCCAAAGAGTTGCAGAATGTTTTTTACATGGACATATCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCCTCACTCTGCTGCCCAGGCTGGAGTGCCGTGCTGCAATCATAACTCACTGCAACCTCAAACTCCTGGGCTCAAGCGATCCTCCTACCTCAGCTTCCCCAGTAGCTAGGACTACAGGCGAAAGCCACCATGCCCAGCCACAGGTACGTCTCTTTAATGGTTAGCAACGTCTTCTGACAAAGTTTTTCTTGAAATTATCATTCTGACTCTAAAGCAGTTCCTCTTCCTTTCTCCCTATCTCTGCAACAGAATTCACTAATTTATTAATATATAACATTCTGGATACTGGACTGGTGGAAAGGCAAATCGAAGATTTTTACTTTTACTCCAAAAGAGTAGCTATATTCTTCTGTAAAATTGGAACTGTGTGAAATAAGTAGGCCACTGGATAGACTGGAATTCTGAGATATCTCTTATAGAGGTTTGTGTTATGGCAGAATTTGACATTATCCTTCCTCGATCCCTGCCTTTTAAGATCTATAGCCCACAGTTTATGAGGAATCCTAAGAAATAAGCAGTCCCTACTTTTATACATACAATATATTTCTTCCTGAACACTATTGTTTAAAGCGAATTGCCATATGGCCAGATCCTAAGTGAACGTGTGTTACTGCCTTCATTAGGTTGGACATCAGCAGAAACTGTCAACTAAGTAGTGAGAAGTCAATGTGTTGGTCATTAAAAAGAACATTAAACAAATGGGCAAAATATCAAGATGCAGAAAGTGGGCACTGCTTATATAGGAGTTCTTCTATCTTAAAATTTGCACTGTAAGGATGAAAAGCTTTTTAAAAACAAATGCGAAGCAAGCTCTTCTAACAGCATCATCCCCAAAGGCTATGTGGTCTAAAAACCCACTAGCCCGAAACAGTTGGTTATATATTATACCTTGAAGTCTGTGTTGTTTACGTGTTCAAAAACCAAGGCGGGGGTTCGTGACTAGGGGAAAAGAACAAAAACAAAAACACACATTAGCAATAGCCCTGACAGCTTTAATGGGGACAATGTTTGCGGATGCTGCGTGGTGAAATTTGGCAGTCCTCGCCTCAGTAGTAAGAAACCCTCTATTGCTACAAGCCCTCCCCGCTCTGATCATCACCGCACTTAGGTCATTTTTGGGATGGATTTCAAACAGAAGACATGGAGCTGAAGTCTCACCAGGCTCTAGGCAGCCCGACAATGCGCCCATCGCCCATCGGCATCGGACCTGAGTTTGCAAAATGGATTAACACATTTCAGTTTCCAGTGCTATCAGTCTCTTAGCCTAGAAGAATAAGAAATAGTCTGTGGGTGGAGGTCTCTTTGAAAGAAAGACCCAAGCTAGTTAAATGGTATATCTGATTAAGCACTTTCAAAGCAGGACTTAATGATGAGGGTTGGGGGAGGGAACAAAAAGAGGCCAGTTGTGCTCCAGGTCAAACACCATCTCAGCTCTGGCGGGCCTTGCTAACACCTACTATACTCACCACAGGGTCTTTTACAATGTCTGCCAGTGTGATGATGTTGGGACCTCCTCTCAAATTCTCCAAAATCTTTATTTCACGCTTAATTTTCTTCTTTTTTACTGGCTGAAAGGGGAAAAGTACATCAGCAAAAAAAAAAAAAAAAAATTTTTTCAGAGTATTTCAACACGTAGTGTAATACATAAATGATAAATGGCTTACTTATGAGCACACCTTGAAGGAAGAAAATGTGTCACATTCGTCTCTGAATCCTTCTCCTAGCACTGTGCCAGGTATTCTGCAGGTACTTACAAATGTTGAATTGAAAGAAAAAAAGATTTCTATTCCAAAGACCAGACACTTCTGCAGAATTAGCATTTCAATCATCAGTCTTGATGTTAATGTTTTAAAACATGTTAAACATGTTAATGTCTTAAAACCTTACAAAGTAGCAATTTAAATCGTTAGTAATACTAAAGTATATCAAACTTTTTATCAATTAGGATGAAACATGGGCCCTTTCCATTTCTTCCTCTAATTAGGGCCAACAACAAGGATGGCCAAAACATCTTTGTGTAGCACAACCCTGAGGGTAAAGGGTGAGTCTTGGAGTCACAATGCCCAATGTGAAACCTACCTTTACTACCTGCTGGCTGTTAATGGCAAACTACATAACCTCTCTAAGCCTTTCATTAAGTGTAAAATGAGTAACAAGAGTACCCATCTCATAAGATTGTTGCAAGAATCAAATGAGGTATTCGAAAGATTTCGGAATATGGCTGAAACATAACATAATAATAACTGTCTAGCCTGATCACCAATGCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCACGCCATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCAGGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCCAATACTCTTATAAATGAACCCCTCCATTCTAAAGAGTATTCTGCAGAGCATATCTTAAACATTCCTTTGTCCTTACCCATTCTTTCCACATCTGTTCTAGTATGGAATCCTTTTCATTTTTTTCTGAGGAGGGCCTTGGTCCCACTGCACCTCCTTTATAAAGCCTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGTAGTAGCATGATCTCAGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCAGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTCAGGATCGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCTGGGCTTATATTATAAAGCCTTCTCCTGAATAGTCTAAAACAGTGCTGGCCCAAAGGAAATATAATACAAACCACATGTGTAATTTTAAATGTGTTAGTAGCCACATCAAGAAAATTTTAAAAAGGACAAAATTAATGTACTTTATTAATCTAAAATCTTAACATATAAATCAATATAAAAATTATTAATCTATTTTACCTTTTTTTGTATTAAACCCTTGAAATCTAATGTATTTTACTCTTACAGCATATCTCAATTCAGCCCAGCCATATTTCAAGTGCTTAACAGCCTCATGTGGCCTGCGTGCCTGCTGTACTGGACTGTGCAGGTCTTTTCCTAGGGTGTTGGTCACCTCAGACTAGATGCACTGCATATAACTCTTAGAAGTTAAGTACATCTCATCTCTTCATTAACAAGATTGGTGGTTACTAAAGTTTGATGACCAACAATCACCTGGATTTTTTTAATATACAGACTCACAGAACCCACCAAGATTCACTAAATCAAAATCTTGAGAGGGAAACGGGGGATTTATTTTTAGATACTTTCCAGGCTGATGATCCAGGTCCAGAAACTACCAAATAATACTATAAATTCTTTTAACTTTGTCTT
|
TTACCGTTGTTCCAAGATCTGTCCATTCACTGCCCTCTATTTCTCCAACATTACATTAACTTTAAAGAGATACTTTGGGTCTTCAACTCTTAAAAATGAAGAATTACTTAAACATATATTGCGGAAGCTATAATCCACTGTCAGAAACATACTGATCTAGATACGTTAATATGCACTGACACCCACCTATAATTTAGTTTGCTTTTCATGTATCTTCAGACCTTCTCAAAAGAGGCATTTTGGCAAATATACTGCCTCCTTAGTAGGGAACTAACTCATCTTTGCCTTACATAGTTGGCCCTGCAGATCACCAGTGGGTATGCAGATGGCATGATACCAAACCTGTTGAGTCAATTTAACAAAACTATTCTTGTTCCAATTGGAAAGTAAACTCTGAACAACTGTTATGTATCCTTTCCAGTTTCCAAAGAGTTGCAGAATGTTTTTTACATGGACATATCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCCTCACTCTGCTGCCCAGGCTGGAGTGCCGTGCTGCAATCATAACTCACTGCAACCTCAAACTCCTGGGCTCAAGCGATCCTCCTACCTCAGCTTCCCCAGTAGCTAGGACTACAGGCGAAAGCCACCATGCCCAGCCACAGGTACGTCTCTTTAATGGTTAGCAACGTCTTCTGACAAAGTTTTTCTTGAAATTATCATTCTGACTCTAAAGCAGTTCCTCTTCCTTTCTCCCTATCTCTGCAACAGAATTCACTAATTTATTAATATATAACATTCTGGATACTGGACTGGTGGAAAGGCAAATCGAAGATTTTTACTTTTACTCCAAAAGAGTAGCTATATTCTTCTGTAAAATTGGAACTGTGTGAAATAAGTAGGCCACTGGATAGACTGGAATTCTGAGATATCTCTTATAGAGGTTTGTGTTATGGCAGAATTTGACATTATCCTTCCTCGATCCCTGCCTTTTAAGATCTATAGCCCACAGTTTATGAGGAATCCTAAGAAATAAGCAGTCCCTACTTTTATACATACAATATATTTCTTCCTGAACACTATTGTTTAAAGCGAATTGCCATATGGCCAGATCCTAAGTGAACGTGTGTTACTGCCTTCATTAGGTTGGACATCAGCAGAAACTGTCAACTAAGTAGTGAGAAGTCAATGTGTTGGTCATTAAAAAGAACATTAAACAAATGGGCAAAATATCAAGATGCAGAAAGTGGGCACTGCTTATATAGGAGTTCTTCTATCTTAAAATTTGCACTGTAAGGATGAAAAGCTTTTTAAAAACAAATGCGAAGCAAGCTCTTCTAACAGCATCATCCCCAAAGGCTATGTGGTCTAAAAACCCACTAGCCCGAAACAGTTGGTTATATATTATACCTTGAAGTCTGTGTTGTTTACGTGTTCAAAAACCAAGGCGGGGGTTCGTGACTAGGGGAAAAGAACAAAAACAAAAACACACATTAGCAATAGCCCTGACAGCTTTAATGGGGACAATGTTTGCGGATGCTGCGTGGTGAAATTTGGCAGTCCTCGCCTCAGTAGTAAGAAACCCTCTATTGCTACAAGCCCTCCCCGCTCTGATCATCACCGCACTTAGGTCATTTTTGGGATGGATTTCAAACAGAAGACATGGAGCTGAAGTCTCACCAGGCTCTAGGCAGCCCGACAATGCGCCCATCGCCCATCGGCATCGGACCTGAGTTTGCAAAATGGATTAACACATTTCAGTTTCCAGTGCTATCAGTCTCTTAGCCTAGAAGAATAAGAAATAGTCTGTGGGTGGAGGTCTCTTTGAAAGAAAGACCCAAGCTAGTTAAATGGTATATCTGATTAAGCACTTTCAAAGCAGGACTTAATGATGAGGGTTGGGGGAGGGAACAAAAAGAGGCCAGTTGTGCTCCAGGTCAAACACCATCTCAGCTCTGGCGGGCCTTGCTAACACCTACTATACTCACCACAGGGTCTTTTACAATGTCTGCCAGTGTGATGATGTTGGGACCTCCTCTCAAATTCTCCAAAATCTTTATTTCACGCTTAATTTTCTTCTTTTTTTACTGGCTGAAAGGGGAAAAGTACATCAGCAAAAAAAAAAAAAAAAAATTTTTTCAGAGTATTTCAACACGTAGTGTAATACATAAATGATAAATGGCTTACTTATGAGCACACCTTGAAGGAAGAAAATGTGTCACATTCGTCTCTGAATCCTTCTCCTAGCACTGTGCCAGGTATTCTGCAGGTACTTACAAATGTTGAATTGAAAGAAAAAAAGATTTCTATTCCAAAGACCAGACACTTCTGCAGAATTAGCATTTCAATCATCAGTCTTGATGTTAATGTTTTAAAACATGTTAAACATGTTAATGTCTTAAAACCTTACAAAGTAGCAATTTAAATCGTTAGTAATACTAAAGTATATCAAACTTTTTATCAATTAGGATGAAACATGGGCCCTTTCCATTTCTTCCTCTAATTAGGGCCAACAACAAGGATGGCCAAAACATCTTTGTGTAGCACAACCCTGAGGGTAAAGGGTGAGTCTTGGAGTCACAATGCCCAATGTGAAACCTACCTTTACTACCTGCTGGCTGTTAATGGCAAACTACATAACCTCTCTAAGCCTTTCATTAAGTGTAAAATGAGTAACAAGAGTACCCATCTCATAAGATTGTTGCAAGAATCAAATGAGGTATTCGAAAGATTTCGGAATATGGCTGAAACATAACATAATAATAACTGTCTAGCCTGATCACCAATGCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCACGCCATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCAGGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCCAATACTCTTATAAATGAACCCCTCCATTCTAAAGAGTATTCTGCAGAGCATATCTTAAACATTCCTTTGTCCTTACCCATTCTTTCCACATCTGTTCTAGTATGGAATCCTTTTCATTTTTTTCTGAGGAGGGCCTTGGTCCCACTGCACCTCCTTTATAAAGCCTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGTAGTAGCATGATCTCAGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCAGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTCAGGATCGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCTGGGCTTATATTATAAAGCCTTCTCCTGAATAGTCTAAAACAGTGCTGGCCCAAAGGAAATATAATACAAACCACATGTGTAATTTTAAATGTGTTAGTAGCCACATCAAGAAAATTTTAAAAAGGACAAAATTAATGTACTTTATTAATCTAAAATCTTAACATATAAATCAATATAAAAATTATTAATCTATTTTACCTTTTTTTGTATTAAACCCTTGAAATCTAATGTATTTTACTCTTACAGCATATCTCAATTCAGCCCAGCCATATTTCAAGTGCTTAACAGCCTCATGTGGCCTGCGTGCCTGCTGTACTGGACTGTGCAGGTCTTTTCCTAGGGTGTTGGTCACCTCAGACTAGATGCACTGCATATAACTCTTAGAAGTTAAGTACATCTCATCTCTTCATTAACAAGATTGGTGGTTACTAAAGTTTGATGACCAACAATCACCTGGATTTTTTTAATATACAGACTCACAGAACCCACCAAGATTCACTAAATCAAAATCTTGAGAGGGAAACGGGGGATTTATTTTTAGATACTTTCCAGGCTGATGATCCAGGTCCAGAAACTACCAAATAATACTATAAATTCTTTTAACTTTGTCT
|
pathogenic
| 310,549 |
The genetic variant at chromosome 20, position 761009, affecting gene SLC52A3 (solute carrier family 52 member 3): benign or pathogenic? Disease name(s) if pathogenic?
|
benign
|
ATAAAAGTGCTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAGAGAAACTGGGCAGATGAGGGAGAGGAAAGGGATGAAAACCTTTCTCTGTACACCTTATATTTTCTGATTTTTTGAAACACGTGACTGTATTACCTATTCACAGTAAGTTAACAGGGATGGGAAGCATGGTGGTGGCAAGCAAACGAAACCTCTAAAAAGAAGTCCCAGGGGCCGGGCGCAGTGGCTAACTCTTATGATCTTAGCGCTTTGAGAGGCCAAGGTGGGCAGATTGCCTGAACTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAGACCTCGTCTCTACTGAAAATACAAAAAATATGCCAGGTGTGGTAGTGCGCACCTGTAGTCCCAGCTACTCCGGAGACTGAGAGGCAGGAGAGTCACTTAAACCTGGGAGGCAGAGGTTGCAGTGAGCCGGGATCACACCACTGCACTCCAGCCTGAGCAACAGGCAGGACTCTGCTTCCAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGACCTGAGATTGCGCCACGGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAACAAAAAAAGCCCCAGAACCAGACATCCTTAAGCACTTGATTCTGTTCATTTCTGAGCTCAGCCTTGAGCTTAGAACCAAGTGAAAACTAATTACACATTTTCGGAGTTCACATTAAACTTCTTCTTTTTAAAATTATTATTTTTGAGACAGAATCTTGCTCTGTCACCCAGGCTGGAGGGCAGTGGCACGATCTCAGCTCACTGCAGCCTCCACCTCTGGGGTTCAAGCAATTCTCAGTCTCCTGAGTAGCTGGGACTACAAGCATGTGCCACCATGACCAGCAATTTTTTGTATTTTTAGTAGAGATGGGTTTTTGCCATGTTGGCCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCATGCCTGAACTTCTCCTTTGAAGGAAGATCTGAGTGTAAAAGCAGGGAATGCCTTTATTTAAAAAAATGAAAAACAGAAACTAAAACAAAATAACAATCACCTCTGTTGCCTCCATTTGAGAGAATACTTCCAGGGGCTCTGCATGTCTGGTCCCCAACCTGGTCGGGGAGTTCACTTTCAGAGGCTCAGGGATGGGCCTTCCCCAGCCCCACCAGCAAATCATCTCTCCCGGCTTCCAGGAGGGTACTTACTCTCCAACTAGTGGGCTTTATGGGCCAGGAAGGATGACAGGAAGGGGTGTGTGGGGTACTACGTCCCTCCACACTGAGAATCCGAAAGCCAAGATGCCCAAGATTCTATCGTTATCTGCTTGTCTTGTAGAAGCCCCTCTGTGAGACTGAGGGGCAAAGGAGAGAGGGCAGGGGCGTGTCTCAACCCTTCTGGCCACTTCTAGGTTGTGCAGACTGCCACTCTTGTTACTACGATGGACTGTCAGATCAGCAGGTGGCCCAGGAGGGCTTGCTTGATGCGGGCTGCTTTTTCCTTTTGCCTCCGTGCCATGCCTGTGAGGTAGTTGGTACTTACTGGAATCCCCACTGCATGCATGAAGAAACAGGCACAGAGAAGCCAAATGACTTTCCCAAGGTCACACAGCCTGAAGGGACAGCCGGCTGTCCCAGCTGTTTCCCTTCTAACACCCTTGGGCCTGCCTCCAGCTAGATGCTGCAAATCAGTCCTCTCTTGAGAGTCAAAGCAAAGGAGATCTGAGCTGGTCGTCACAGGTAGTGTGACACAGAGTTGGGGATAGAGCCGCACCTTGCATTTCCAGGTGCCATCTTCCCCACAGTCCCCAGTGGGCACTTGCGTTCATGATTCAATTACTCAGGCTCTGTCTCTCTGTTCCTGCCCCTTGCTCTGTGACCTGGCCTCTCTGGACCCCAGTTCCGTCCGTGAGCGATGGGGGCGGGGTCGGCGGCCTGCCTAGGCTGGACAGTGCAGATTGCAGAAGTCCGCGGACGAGAAGAGCCGCAGCACGTTGACCAGAGGGAACATGAGCAGCGCTCCGAGCAGCGAGCCCAGCTGCACCGCCGCCCCGCACCACAAGAGGGCGCTGCGGCTGAGGTCGCGCAGGACCACGCCCAGCATCACCTTGACGTAACTGAGGCAGCCGCTGAAAAGCACCCACGAGGCCACCTGCGGGGCCGGGAGGGAAGAGGTGCAGAGTCACGGGGCTTGCGGGGCGAGCGCCGGAGCAAAGAACTCTCACAGGGCTCAGGGGAACCCACGGAATACTCTCTAGGTGCGAGGAGCGCCTTCTGGGAGTGAGCCTGCGGGGCCGACGGGTCCCATGAGTTGGCCGCCCGGGGGCGAAGGAGAATCCAGTGGCTTTTCTGGGTTCACGTGCCCATGATCAGGGCAAGGGCCCTTGAGAGAAGGCCCCTGCTGAGGTACACATGGTGGGAAGAGGCCTACCAGTCACCTCGATTCCCTAAGCCTCCACTCCCAAATGAGGAAGGGGCGCTTCCCCCACCTGGGGCTTCCCGGGAGGGTCCCACAGACCCCGCTCGCTGGAAAGGGCCGCGCCCAAGCTCTCCCAGGCCTTGGCTAGGGGTGAGGGGTACGCAGCGGGAGCAGCCCCACCGGCCGGATACTCACAATGAGGACTTCCCCACCCCAGTGGCCCTGCAAGAGGGGGCAGGGGCTCATCACCGCCATGGCCATGTTGTAGCCCCCAAAGCAGGTCCCAAGCACGGAGAGGACCCCCAGGAACAGCAGAGACCTAGAGGAAAGTAGGGGAGGTGAGTGGAGGTGAGAAGCCTGACCTCTGACCCCCCCGCCCCACTGGGCGGCATGTGGATGGCCAGTGTCTCCATAGTTAGTTTAGACCCATGTGGAAAATTCCAGGTTGCCTGGCTCAAGTGGGTCAGGGAGGCTCCTGAGCAGGCAGGGCTGGCCTGAGTCATCCCCAGCATTAACGGCAGGGCCTGGCACCCCGGCAAGAAAAACATAATGGACTCTGGCACCGGATGGTCCTGGTTCAAATCCCAGTTCTACTGTTTAAGCTGAGACTCGCCTCTGAGCCTCCAAATCGGAGTTTTGCAAGGCTGCATGACCTCCAGGAGCAGAGCATGCAGGCCTGGCGCCGCTGTGGGCCCACCTGGTGTTTACCTGCTGGCATTTCCTCCTGCAACACACCCTCAGCCTCAGCCAGGAAGCTGAGTTGAAGTGAAGATGGCTGGATCGGGCATTGGCACAGTAGGGTTTGCTGTGCCTCCTCAGGAGACCCCTCCCCTTCTGGCCTCAGCTACCTGCCTCTGCAATGTGGAGTGTGCTGATCTCCAGGGGTCCTGGCAGCTGGCTTGTTGCTGCTAGGAGCATCTCTCTACAGGTGGCCTTCCATGCAAACCTACATCTGGGACCACTGTCCTTCCTCACAGGTCCTTGTCCCTGGGGTCCCAATCTCTAGAACCCCAAGACTGGTCCACGCCCTGGGTAAGAACAGACAGAGGTCTGCCTATACCCTTAAAGACTCTTTCTGCTCCAAGATTCTTGGATTCCATGACTCAGATTCTGTAATTCTAACATTTGGGGTTTCTTGGATTTGCAGGTCTGAGCCTTTGGTCCTGCTTCCCTCAAATCCTCCATCCTCTTTCCAGTTTCTAGGTCCCAAGGTAGAAAATCCAGCTTCCTGGCAAGCTTTCTGTCAAGCTCTTCTGTCCTCACTGTCCTTCTTCTGGGCTGGGAGAGTGGGTGTAAGCAGGCCAGTGAGGACAGGCAGGCCAGCGTGGATACGAGGCTGTAGGACCCACCTCAAATGTCAAGATCCCAAGGTGGTAGTTCTCCTACAGGGGTCTGAAGCCCCTGCCTCAGAACCGTCTGGTTTCCTTACTAAAAATTGAAATCCCAGGTCCCAGTCTAGGCTGGTTCAATCTGCATTTTATCAACTTGCCCAGCCATTCTTCTAGAACTGTGGCTCTAAGGGAACCAGCAGGAGGTTAGAGGCAGGAAGGC
|
ATAAAAGTGCTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAGAGAAACTGGGCAGATGAGGGAGAGGAAAGGGATGAAAACCTTTCTCTGTACACCTTATATTTTCTGATTTTTTGAAACACGTGACTGTATTACCTATTCACAGTAAGTTAACAGGGATGGGAAGCATGGTGGTGGCAAGCAAACGAAACCTCTAAAAAGAAGTCCCAGGGGCCGGGCGCAGTGGCTAACTCTTATGATCTTAGCGCTTTGAGAGGCCAAGGTGGGCAGATTGCCTGAACTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAGACCTCGTCTCTACTGAAAATACAAAAAATATGCCAGGTGTGGTAGTGCGCACCTGTAGTCCCAGCTACTCCGGAGACTGAGAGGCAGGAGAGTCACTTAAACCTGGGAGGCAGAGGTTGCAGTGAGCCGGGATCACACCACTGCACTCCAGCCTGAGCAACAGGCAGGACTCTGCTTCCAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGACCTGAGATTGCGCCACGGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAACAAAAAAAGCCCCAGAACCAGACATCCTTAAGCACTTGATTCTGTTCATTTCTGAGCTCAGCCTTGAGCTTAGAACCAAGTGAAAACTAATTACACATTTTCGGAGTTCACATTAAACTTCTTCTTTTTAAAATTATTATTTTTGAGACAGAATCTTGCTCTGTCACCCAGGCTGGAGGGCAGTGGCACGATCTCAGCTCACTGCAGCCTCCACCTCTGGGGTTCAAGCAATTCTCAGTCTCCTGAGTAGCTGGGACTACAAGCATGTGCCACCATGACCAGCAATTTTTTGTATTTTTAGTAGAGATGGGTTTTTGCCATGTTGGCCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCATGCCTGAACTTCTCCTTTGAAGGAAGATCTGAGTGTAAAAGCAGGGAATGCCTTTATTTAAAAAAATGAAAAACAGAAACTAAAACAAAATAACAATCACCTCTGTTGCCTCCATTTGAGAGAATACTTCCAGGGGCTCTGCATGTCTGGTCCCCAACCTGGTCGGGGAGTTCACTTTCAGAGGCTCAGGGATGGGCCTTCCCCAGCCCCACCAGCAAATCATCTCTCCCGGCTTCCAGGAGGGTACTTACTCTCCAACTAGTGGGCTTTATGGGCCAGGAAGGATGACAGGAAGGGGTGTGTGGGGTACTACGTCCCTCCACACTGAGAATCCGAAAGCCAAGATGCCCAAGATTCTATCGTTATCTGCTTGTCTTGTAGAAGCCCCTCTGTGAGACTGAGGGGCAAAGGAGAGAGGGCAGGGGCGTGTCTCAACCCTTCTGGCCACTTCTAGGTTGTGCAGACTGCCACTCTTGTTACTACGATGGACTGTCAGATCAGCAGGTGGCCCAGGAGGGCTTGCTTGATGCGGGCTGCTTTTTCCTTTTGCCTCCGTGCCATGCCTGTGAGGTAGTTGGTACTTACTGGAATCCCCACTGCATGCATGAAGAAACAGGCACAGAGAAGCCAAATGACTTTCCCAAGGTCACACAGCCTGAAGGGACAGCCGGCTGTCCCAGCTGTTTCCCTTCTAACACCCTTGGGCCTGCCTCCAGCTAGATGCTGCAAATCAGTCCTCTCTTGAGAGTCAAAGCAAAGGAGATCTGAGCTGGTCGTCACAGGTAGTGTGACACAGAGTTGGGGATAGAGCCGCACCTTGCATTTCCAGGTGCCATCTTCCCCACAGTCCCCAGTGGGCACTTGCGTTCATGATTCAATTACTCAGGCTCTGTCTCTCTGTTCCTGCCCCTTGCTCTGTGACCTGGCCTCTCTGGACCCCAGTTCCGTCCGTGAGCGATGGGGGCGGGTCGGCGGCCTGCCTAGGCTGGACAGTGCAGATTGCAGAAGTCCGCGGACGAGAAGAGCCGCAGCACGTTGACCAGAGGGAACATGAGCAGCGCTCCGAGCAGCGAGCCCAGCTGCACCGCCGCCCCGCACCACAAGAGGGCGCTGCGGCTGAGGTCGCGCAGGACCACGCCCAGCATCACCTTGACGTAACTGAGGCAGCCGCTGAAAAGCACCCACGAGGCCACCTGCGGGGCCGGGAGGGAAGAGGTGCAGAGTCACGGGGCTTGCGGGGCGAGCGCCGGAGCAAAGAACTCTCACAGGGCTCAGGGGAACCCACGGAATACTCTCTAGGTGCGAGGAGCGCCTTCTGGGAGTGAGCCTGCGGGGCCGACGGGTCCCATGAGTTGGCCGCCCGGGGGCGAAGGAGAATCCAGTGGCTTTTCTGGGTTCACGTGCCCATGATCAGGGCAAGGGCCCTTGAGAGAAGGCCCCTGCTGAGGTACACATGGTGGGAAGAGGCCTACCAGTCACCTCGATTCCCTAAGCCTCCACTCCCAAATGAGGAAGGGGCGCTTCCCCCACCTGGGGCTTCCCGGGAGGGTCCCACAGACCCCGCTCGCTGGAAAGGGCCGCGCCCAAGCTCTCCCAGGCCTTGGCTAGGGGTGAGGGGTACGCAGCGGGAGCAGCCCCACCGGCCGGATACTCACAATGAGGACTTCCCCACCCCAGTGGCCCTGCAAGAGGGGGCAGGGGCTCATCACCGCCATGGCCATGTTGTAGCCCCCAAAGCAGGTCCCAAGCACGGAGAGGACCCCCAGGAACAGCAGAGACCTAGAGGAAAGTAGGGGAGGTGAGTGGAGGTGAGAAGCCTGACCTCTGACCCCCCCGCCCCACTGGGCGGCATGTGGATGGCCAGTGTCTCCATAGTTAGTTTAGACCCATGTGGAAAATTCCAGGTTGCCTGGCTCAAGTGGGTCAGGGAGGCTCCTGAGCAGGCAGGGCTGGCCTGAGTCATCCCCAGCATTAACGGCAGGGCCTGGCACCCCGGCAAGAAAAACATAATGGACTCTGGCACCGGATGGTCCTGGTTCAAATCCCAGTTCTACTGTTTAAGCTGAGACTCGCCTCTGAGCCTCCAAATCGGAGTTTTGCAAGGCTGCATGACCTCCAGGAGCAGAGCATGCAGGCCTGGCGCCGCTGTGGGCCCACCTGGTGTTTACCTGCTGGCATTTCCTCCTGCAACACACCCTCAGCCTCAGCCAGGAAGCTGAGTTGAAGTGAAGATGGCTGGATCGGGCATTGGCACAGTAGGGTTTGCTGTGCCTCCTCAGGAGACCCCTCCCCTTCTGGCCTCAGCTACCTGCCTCTGCAATGTGGAGTGTGCTGATCTCCAGGGGTCCTGGCAGCTGGCTTGTTGCTGCTAGGAGCATCTCTCTACAGGTGGCCTTCCATGCAAACCTACATCTGGGACCACTGTCCTTCCTCACAGGTCCTTGTCCCTGGGGTCCCAATCTCTAGAACCCCAAGACTGGTCCACGCCCTGGGTAAGAACAGACAGAGGTCTGCCTATACCCTTAAAGACTCTTTCTGCTCCAAGATTCTTGGATTCCATGACTCAGATTCTGTAATTCTAACATTTGGGGTTTCTTGGATTTGCAGGTCTGAGCCTTTGGTCCTGCTTCCCTCAAATCCTCCATCCTCTTTCCAGTTTCTAGGTCCCAAGGTAGAAAATCCAGCTTCCTGGCAAGCTTTCTGTCAAGCTCTTCTGTCCTCACTGTCCTTCTTCTGGGCTGGGAGAGTGGGTGTAAGCAGGCCAGTGAGGACAGGCAGGCCAGCGTGGATACGAGGCTGTAGGACCCACCTCAAATGTCAAGATCCCAAGGTGGTAGTTCTCCTACAGGGGTCTGAAGCCCCTGCCTCAGAACCGTCTGGTTTCCTTACTAAAAATTGAAATCCCAGGTCCCAGTCTAGGCTGGTTCAATCTGCATTTTATCAACTTGCCCAGCCATTCTTCTAGAACTGTGGCTCTAAGGGAACCAGCAGGAGGTTAGAGGCAGGAAGGCN
|
benign
| 310,561 |
Determine if the mutation at chromosome 20, position 761109 in gene SLC52A3 (solute carrier family 52 member 3) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Brown-Vialetto-van_Laere_syndrome_1']
|
CACCTTATATTTTCTGATTTTTTGAAACACGTGACTGTATTACCTATTCACAGTAAGTTAACAGGGATGGGAAGCATGGTGGTGGCAAGCAAACGAAACCTCTAAAAAGAAGTCCCAGGGGCCGGGCGCAGTGGCTAACTCTTATGATCTTAGCGCTTTGAGAGGCCAAGGTGGGCAGATTGCCTGAACTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAGACCTCGTCTCTACTGAAAATACAAAAAATATGCCAGGTGTGGTAGTGCGCACCTGTAGTCCCAGCTACTCCGGAGACTGAGAGGCAGGAGAGTCACTTAAACCTGGGAGGCAGAGGTTGCAGTGAGCCGGGATCACACCACTGCACTCCAGCCTGAGCAACAGGCAGGACTCTGCTTCCAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGACCTGAGATTGCGCCACGGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAACAAAAAAAGCCCCAGAACCAGACATCCTTAAGCACTTGATTCTGTTCATTTCTGAGCTCAGCCTTGAGCTTAGAACCAAGTGAAAACTAATTACACATTTTCGGAGTTCACATTAAACTTCTTCTTTTTAAAATTATTATTTTTGAGACAGAATCTTGCTCTGTCACCCAGGCTGGAGGGCAGTGGCACGATCTCAGCTCACTGCAGCCTCCACCTCTGGGGTTCAAGCAATTCTCAGTCTCCTGAGTAGCTGGGACTACAAGCATGTGCCACCATGACCAGCAATTTTTTGTATTTTTAGTAGAGATGGGTTTTTGCCATGTTGGCCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCATGCCTGAACTTCTCCTTTGAAGGAAGATCTGAGTGTAAAAGCAGGGAATGCCTTTATTTAAAAAAATGAAAAACAGAAACTAAAACAAAATAACAATCACCTCTGTTGCCTCCATTTGAGAGAATACTTCCAGGGGCTCTGCATGTCTGGTCCCCAACCTGGTCGGGGAGTTCACTTTCAGAGGCTCAGGGATGGGCCTTCCCCAGCCCCACCAGCAAATCATCTCTCCCGGCTTCCAGGAGGGTACTTACTCTCCAACTAGTGGGCTTTATGGGCCAGGAAGGATGACAGGAAGGGGTGTGTGGGGTACTACGTCCCTCCACACTGAGAATCCGAAAGCCAAGATGCCCAAGATTCTATCGTTATCTGCTTGTCTTGTAGAAGCCCCTCTGTGAGACTGAGGGGCAAAGGAGAGAGGGCAGGGGCGTGTCTCAACCCTTCTGGCCACTTCTAGGTTGTGCAGACTGCCACTCTTGTTACTACGATGGACTGTCAGATCAGCAGGTGGCCCAGGAGGGCTTGCTTGATGCGGGCTGCTTTTTCCTTTTGCCTCCGTGCCATGCCTGTGAGGTAGTTGGTACTTACTGGAATCCCCACTGCATGCATGAAGAAACAGGCACAGAGAAGCCAAATGACTTTCCCAAGGTCACACAGCCTGAAGGGACAGCCGGCTGTCCCAGCTGTTTCCCTTCTAACACCCTTGGGCCTGCCTCCAGCTAGATGCTGCAAATCAGTCCTCTCTTGAGAGTCAAAGCAAAGGAGATCTGAGCTGGTCGTCACAGGTAGTGTGACACAGAGTTGGGGATAGAGCCGCACCTTGCATTTCCAGGTGCCATCTTCCCCACAGTCCCCAGTGGGCACTTGCGTTCATGATTCAATTACTCAGGCTCTGTCTCTCTGTTCCTGCCCCTTGCTCTGTGACCTGGCCTCTCTGGACCCCAGTTCCGTCCGTGAGCGATGGGGGCGGGGTCGGCGGCCTGCCTAGGCTGGACAGTGCAGATTGCAGAAGTCCGCGGACGAGAAGAGCCGCAGCACGTTGACCAGAGGGAACATGAGCAGCGCTCCGAGCAGCGAGCCCAGCTGCACCGCCGCCCCGCACCACAAGAGGGCGCTGCGGCTGAGGTCGCGCAGGACCACGCCCAGCATCACCTTGACGTAACTGAGGCAGCCGCTGAAAAGCACCCACGAGGCCACCTGCGGGGCCGGGAGGGAAGAGGTGCAGAGTCACGGGGCTTGCGGGGCGAGCGCCGGAGCAAAGAACTCTCACAGGGCTCAGGGGAACCCACGGAATACTCTCTAGGTGCGAGGAGCGCCTTCTGGGAGTGAGCCTGCGGGGCCGACGGGTCCCATGAGTTGGCCGCCCGGGGGCGAAGGAGAATCCAGTGGCTTTTCTGGGTTCACGTGCCCATGATCAGGGCAAGGGCCCTTGAGAGAAGGCCCCTGCTGAGGTACACATGGTGGGAAGAGGCCTACCAGTCACCTCGATTCCCTAAGCCTCCACTCCCAAATGAGGAAGGGGCGCTTCCCCCACCTGGGGCTTCCCGGGAGGGTCCCACAGACCCCGCTCGCTGGAAAGGGCCGCGCCCAAGCTCTCCCAGGCCTTGGCTAGGGGTGAGGGGTACGCAGCGGGAGCAGCCCCACCGGCCGGATACTCACAATGAGGACTTCCCCACCCCAGTGGCCCTGCAAGAGGGGGCAGGGGCTCATCACCGCCATGGCCATGTTGTAGCCCCCAAAGCAGGTCCCAAGCACGGAGAGGACCCCCAGGAACAGCAGAGACCTAGAGGAAAGTAGGGGAGGTGAGTGGAGGTGAGAAGCCTGACCTCTGACCCCCCCGCCCCACTGGGCGGCATGTGGATGGCCAGTGTCTCCATAGTTAGTTTAGACCCATGTGGAAAATTCCAGGTTGCCTGGCTCAAGTGGGTCAGGGAGGCTCCTGAGCAGGCAGGGCTGGCCTGAGTCATCCCCAGCATTAACGGCAGGGCCTGGCACCCCGGCAAGAAAAACATAATGGACTCTGGCACCGGATGGTCCTGGTTCAAATCCCAGTTCTACTGTTTAAGCTGAGACTCGCCTCTGAGCCTCCAAATCGGAGTTTTGCAAGGCTGCATGACCTCCAGGAGCAGAGCATGCAGGCCTGGCGCCGCTGTGGGCCCACCTGGTGTTTACCTGCTGGCATTTCCTCCTGCAACACACCCTCAGCCTCAGCCAGGAAGCTGAGTTGAAGTGAAGATGGCTGGATCGGGCATTGGCACAGTAGGGTTTGCTGTGCCTCCTCAGGAGACCCCTCCCCTTCTGGCCTCAGCTACCTGCCTCTGCAATGTGGAGTGTGCTGATCTCCAGGGGTCCTGGCAGCTGGCTTGTTGCTGCTAGGAGCATCTCTCTACAGGTGGCCTTCCATGCAAACCTACATCTGGGACCACTGTCCTTCCTCACAGGTCCTTGTCCCTGGGGTCCCAATCTCTAGAACCCCAAGACTGGTCCACGCCCTGGGTAAGAACAGACAGAGGTCTGCCTATACCCTTAAAGACTCTTTCTGCTCCAAGATTCTTGGATTCCATGACTCAGATTCTGTAATTCTAACATTTGGGGTTTCTTGGATTTGCAGGTCTGAGCCTTTGGTCCTGCTTCCCTCAAATCCTCCATCCTCTTTCCAGTTTCTAGGTCCCAAGGTAGAAAATCCAGCTTCCTGGCAAGCTTTCTGTCAAGCTCTTCTGTCCTCACTGTCCTTCTTCTGGGCTGGGAGAGTGGGTGTAAGCAGGCCAGTGAGGACAGGCAGGCCAGCGTGGATACGAGGCTGTAGGACCCACCTCAAATGTCAAGATCCCAAGGTGGTAGTTCTCCTACAGGGGTCTGAAGCCCCTGCCTCAGAACCGTCTGGTTTCCTTACTAAAAATTGAAATCCCAGGTCCCAGTCTAGGCTGGTTCAATCTGCATTTTATCAACTTGCCCAGCCATTCTTCTAGAACTGTGGCTCTAAGGGAACCAGCAGGAGGTTAGAGGCAGGAAGGCAGGGCCGAAATCCTGGGAATTAGACCAGGTCAAGCTCTTTCTCCAAGCCTCAGGGTTTCCCCTTATAAACGGGAACCTCAGTGGCTATCTGCTCCTCCTC
|
CACCTTATATTTTCTGATTTTTTGAAACACGTGACTGTATTACCTATTCACAGTAAGTTAACAGGGATGGGAAGCATGGTGGTGGCAAGCAAACGAAACCTCTAAAAAGAAGTCCCAGGGGCCGGGCGCAGTGGCTAACTCTTATGATCTTAGCGCTTTGAGAGGCCAAGGTGGGCAGATTGCCTGAACTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAGACCTCGTCTCTACTGAAAATACAAAAAATATGCCAGGTGTGGTAGTGCGCACCTGTAGTCCCAGCTACTCCGGAGACTGAGAGGCAGGAGAGTCACTTAAACCTGGGAGGCAGAGGTTGCAGTGAGCCGGGATCACACCACTGCACTCCAGCCTGAGCAACAGGCAGGACTCTGCTTCCAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGACCTGAGATTGCGCCACGGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAACAAAAAAAGCCCCAGAACCAGACATCCTTAAGCACTTGATTCTGTTCATTTCTGAGCTCAGCCTTGAGCTTAGAACCAAGTGAAAACTAATTACACATTTTCGGAGTTCACATTAAACTTCTTCTTTTTAAAATTATTATTTTTGAGACAGAATCTTGCTCTGTCACCCAGGCTGGAGGGCAGTGGCACGATCTCAGCTCACTGCAGCCTCCACCTCTGGGGTTCAAGCAATTCTCAGTCTCCTGAGTAGCTGGGACTACAAGCATGTGCCACCATGACCAGCAATTTTTTGTATTTTTAGTAGAGATGGGTTTTTGCCATGTTGGCCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCATGCCTGAACTTCTCCTTTGAAGGAAGATCTGAGTGTAAAAGCAGGGAATGCCTTTATTTAAAAAAATGAAAAACAGAAACTAAAACAAAATAACAATCACCTCTGTTGCCTCCATTTGAGAGAATACTTCCAGGGGCTCTGCATGTCTGGTCCCCAACCTGGTCGGGGAGTTCACTTTCAGAGGCTCAGGGATGGGCCTTCCCCAGCCCCACCAGCAAATCATCTCTCCCGGCTTCCAGGAGGGTACTTACTCTCCAACTAGTGGGCTTTATGGGCCAGGAAGGATGACAGGAAGGGGTGTGTGGGGTACTACGTCCCTCCACACTGAGAATCCGAAAGCCAAGATGCCCAAGATTCTATCGTTATCTGCTTGTCTTGTAGAAGCCCCTCTGTGAGACTGAGGGGCAAAGGAGAGAGGGCAGGGGCGTGTCTCAACCCTTCTGGCCACTTCTAGGTTGTGCAGACTGCCACTCTTGTTACTACGATGGACTGTCAGATCAGCAGGTGGCCCAGGAGGGCTTGCTTGATGCGGGCTGCTTTTTCCTTTTGCCTCCGTGCCATGCCTGTGAGGTAGTTGGTACTTACTGGAATCCCCACTGCATGCATGAAGAAACAGGCACAGAGAAGCCAAATGACTTTCCCAAGGTCACACAGCCTGAAGGGACAGCCGGCTGTCCCAGCTGTTTCCCTTCTAACACCCTTGGGCCTGCCTCCAGCTAGATGCTGCAAATCAGTCCTCTCTTGAGAGTCAAAGCAAAGGAGATCTGAGCTGGTCGTCACAGGTAGTGTGACACAGAGTTGGGGATAGAGCCGCACCTTGCATTTCCAGGTGCCATCTTCCCCACAGTCCCCAGTGGGCACTTGCGTTCATGATTCAATTACTCAGGCTCTGTCTCTCTGTTCCTGCCCCTTGCTCTGTGACCTGGCCTCTCTGGACCCCAGTTCCGTCCGTGAGCGATGGGGGCGGGGTCGGCGGCCTGCCTAGGCTGGACAGTGCAGATTGCAGAAGTCCGCGGACGAGAAGAGCCGCAGCACGTTGACCAGAGGGAACATGAGCAGCGCTCCGCAGCGAGCCCAGCTGCACCGCCGCCCCGCACCACAAGAGGGCGCTGCGGCTGAGGTCGCGCAGGACCACGCCCAGCATCACCTTGACGTAACTGAGGCAGCCGCTGAAAAGCACCCACGAGGCCACCTGCGGGGCCGGGAGGGAAGAGGTGCAGAGTCACGGGGCTTGCGGGGCGAGCGCCGGAGCAAAGAACTCTCACAGGGCTCAGGGGAACCCACGGAATACTCTCTAGGTGCGAGGAGCGCCTTCTGGGAGTGAGCCTGCGGGGCCGACGGGTCCCATGAGTTGGCCGCCCGGGGGCGAAGGAGAATCCAGTGGCTTTTCTGGGTTCACGTGCCCATGATCAGGGCAAGGGCCCTTGAGAGAAGGCCCCTGCTGAGGTACACATGGTGGGAAGAGGCCTACCAGTCACCTCGATTCCCTAAGCCTCCACTCCCAAATGAGGAAGGGGCGCTTCCCCCACCTGGGGCTTCCCGGGAGGGTCCCACAGACCCCGCTCGCTGGAAAGGGCCGCGCCCAAGCTCTCCCAGGCCTTGGCTAGGGGTGAGGGGTACGCAGCGGGAGCAGCCCCACCGGCCGGATACTCACAATGAGGACTTCCCCACCCCAGTGGCCCTGCAAGAGGGGGCAGGGGCTCATCACCGCCATGGCCATGTTGTAGCCCCCAAAGCAGGTCCCAAGCACGGAGAGGACCCCCAGGAACAGCAGAGACCTAGAGGAAAGTAGGGGAGGTGAGTGGAGGTGAGAAGCCTGACCTCTGACCCCCCCGCCCCACTGGGCGGCATGTGGATGGCCAGTGTCTCCATAGTTAGTTTAGACCCATGTGGAAAATTCCAGGTTGCCTGGCTCAAGTGGGTCAGGGAGGCTCCTGAGCAGGCAGGGCTGGCCTGAGTCATCCCCAGCATTAACGGCAGGGCCTGGCACCCCGGCAAGAAAAACATAATGGACTCTGGCACCGGATGGTCCTGGTTCAAATCCCAGTTCTACTGTTTAAGCTGAGACTCGCCTCTGAGCCTCCAAATCGGAGTTTTGCAAGGCTGCATGACCTCCAGGAGCAGAGCATGCAGGCCTGGCGCCGCTGTGGGCCCACCTGGTGTTTACCTGCTGGCATTTCCTCCTGCAACACACCCTCAGCCTCAGCCAGGAAGCTGAGTTGAAGTGAAGATGGCTGGATCGGGCATTGGCACAGTAGGGTTTGCTGTGCCTCCTCAGGAGACCCCTCCCCTTCTGGCCTCAGCTACCTGCCTCTGCAATGTGGAGTGTGCTGATCTCCAGGGGTCCTGGCAGCTGGCTTGTTGCTGCTAGGAGCATCTCTCTACAGGTGGCCTTCCATGCAAACCTACATCTGGGACCACTGTCCTTCCTCACAGGTCCTTGTCCCTGGGGTCCCAATCTCTAGAACCCCAAGACTGGTCCACGCCCTGGGTAAGAACAGACAGAGGTCTGCCTATACCCTTAAAGACTCTTTCTGCTCCAAGATTCTTGGATTCCATGACTCAGATTCTGTAATTCTAACATTTGGGGTTTCTTGGATTTGCAGGTCTGAGCCTTTGGTCCTGCTTCCCTCAAATCCTCCATCCTCTTTCCAGTTTCTAGGTCCCAAGGTAGAAAATCCAGCTTCCTGGCAAGCTTTCTGTCAAGCTCTTCTGTCCTCACTGTCCTTCTTCTGGGCTGGGAGAGTGGGTGTAAGCAGGCCAGTGAGGACAGGCAGGCCAGCGTGGATACGAGGCTGTAGGACCCACCTCAAATGTCAAGATCCCAAGGTGGTAGTTCTCCTACAGGGGTCTGAAGCCCCTGCCTCAGAACCGTCTGGTTTCCTTACTAAAAATTGAAATCCCAGGTCCCAGTCTAGGCTGGTTCAATCTGCATTTTATCAACTTGCCCAGCCATTCTTCTAGAACTGTGGCTCTAAGGGAACCAGCAGGAGGTTAGAGGCAGGAAGGCAGGGCCGAAATCCTGGGAATTAGACCAGGTCAAGCTCTTTCTCCAAGCCTCAGGGTTTCCCCTTATAAACGGGAACCTCAGTGGCTATCTGCTCCTCCTCNN
|
pathogenic
| 310,563 |
The mutation impacting SLC52A3 (solute carrier family 52 member 3) on chromosome 20 at position 763817: benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Brown-Vialetto-van_Laere_syndrome_1', 'Inborn_genetic_diseases']
|
TGTAGCCCCCAAAGCAGGTCCCAAGCACGGAGAGGACCCCCAGGAACAGCAGAGACCTAGAGGAAAGTAGGGGAGGTGAGTGGAGGTGAGAAGCCTGACCTCTGACCCCCCCGCCCCACTGGGCGGCATGTGGATGGCCAGTGTCTCCATAGTTAGTTTAGACCCATGTGGAAAATTCCAGGTTGCCTGGCTCAAGTGGGTCAGGGAGGCTCCTGAGCAGGCAGGGCTGGCCTGAGTCATCCCCAGCATTAACGGCAGGGCCTGGCACCCCGGCAAGAAAAACATAATGGACTCTGGCACCGGATGGTCCTGGTTCAAATCCCAGTTCTACTGTTTAAGCTGAGACTCGCCTCTGAGCCTCCAAATCGGAGTTTTGCAAGGCTGCATGACCTCCAGGAGCAGAGCATGCAGGCCTGGCGCCGCTGTGGGCCCACCTGGTGTTTACCTGCTGGCATTTCCTCCTGCAACACACCCTCAGCCTCAGCCAGGAAGCTGAGTTGAAGTGAAGATGGCTGGATCGGGCATTGGCACAGTAGGGTTTGCTGTGCCTCCTCAGGAGACCCCTCCCCTTCTGGCCTCAGCTACCTGCCTCTGCAATGTGGAGTGTGCTGATCTCCAGGGGTCCTGGCAGCTGGCTTGTTGCTGCTAGGAGCATCTCTCTACAGGTGGCCTTCCATGCAAACCTACATCTGGGACCACTGTCCTTCCTCACAGGTCCTTGTCCCTGGGGTCCCAATCTCTAGAACCCCAAGACTGGTCCACGCCCTGGGTAAGAACAGACAGAGGTCTGCCTATACCCTTAAAGACTCTTTCTGCTCCAAGATTCTTGGATTCCATGACTCAGATTCTGTAATTCTAACATTTGGGGTTTCTTGGATTTGCAGGTCTGAGCCTTTGGTCCTGCTTCCCTCAAATCCTCCATCCTCTTTCCAGTTTCTAGGTCCCAAGGTAGAAAATCCAGCTTCCTGGCAAGCTTTCTGTCAAGCTCTTCTGTCCTCACTGTCCTTCTTCTGGGCTGGGAGAGTGGGTGTAAGCAGGCCAGTGAGGACAGGCAGGCCAGCGTGGATACGAGGCTGTAGGACCCACCTCAAATGTCAAGATCCCAAGGTGGTAGTTCTCCTACAGGGGTCTGAAGCCCCTGCCTCAGAACCGTCTGGTTTCCTTACTAAAAATTGAAATCCCAGGTCCCAGTCTAGGCTGGTTCAATCTGCATTTTATCAACTTGCCCAGCCATTCTTCTAGAACTGTGGCTCTAAGGGAACCAGCAGGAGGTTAGAGGCAGGAAGGCAGGGCCGAAATCCTGGGAATTAGACCAGGTCAAGCTCTTTCTCCAAGCCTCAGGGTTTCCCCTTATAAACGGGAACCTCAGTGGCTATCTGCTCCTCCTCATGGACTGATGACAATGATGGTCAACGCTTAGGCTGGACCTGCCACGTGCCAGGCACCGCTCCAAGAGCTTTATAGAATCAGCTCATATCATGCTTCCAGCAGTCCTAGGAGGTGGAATGTTACACTCCCATTTTCCGATAAATATCCCTGAGGCACAGAGAACTGAAGTGACTTGTCTTACACACAGCTGACAGGTGGCAGAGCTGGGATTTGGACCAGGGTGCTCCCCAAACATGTTCTTAACCACTACATGTACAGCCCAGTAGGTGCGTTTGGAATTCTGGGTTCTGAAATGAAGTGTTCCCCCACTAGGATTCCCTAGGACCAGATGAGGGCACACCTGTTAGGCAGGAACATGGAGACCAACGAGGCAAGAGGGTTGGCCACAATGCTGAGGGTGGCAGCCAGGTGGTAGGCAACTGGCCCATAGGACAGGCAGGAGTAGGTCTGCACAGAGGGCAGCATGCCGTTGGTGAGCGCGTTGACGAAGGCCACCAGGGTATAGATGAAGGCCAGGTGCGCCGGGCAGCAGGGGGCTGCTTTCTCCTCTAGATACCCCTGGCCCTGGCTGCTGTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGGAACTCCCTGCAAAGGACAAGACAGATCCCTGGTCAGGGGAGGGGATCAGGCTGCAGAACAACAATCATGACAGTGATAACAGAATACAGATCACCTGTTATTATTAATGGATAATGAATAAATAAACATAACTAACAAGGTGGCAATAATGACTGCTCATACTGACTGCCCACTGAGCACGGGCACTGTGCATGGATAAGCCCCTATGCCTCCTAACAGGGCTGCACAGTGGGCACCATCATCCCCCATTTTAGAGGGAACTGAGGTATCAGAATGCTTCGTCCCTTACCTGAGGGTCACAGGGAGAATGTGGCAAAGCCAGACTCCACCTGGTGCTTTCTGACTTGGAAGCTACACCTTTTATCACCCCACAGCAGTGGCAACCACAAACATGTTCAGAGGAGGAGCTAGCTGGAGACTGAGCAGTGGAGCCGCCCACCTAAGAGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGAAGAACACTGCTCCACCCATCGTCTAGGAAATAAGGGCCTTCAGGACATGCCATCCCAAAATATGACTGTAGGAGGCCAGAATATGCCACCCCAAAATTGACCTATTGGCATATTTTTTATTTCTAGCTGGTTATTTTGAAAAATTGCAGGCTAAGGAGTAGCTCTGAAAAGTTGCCATTTTGTAAGATAAATTTACATCTAAAGGAAATTTTTATTAGTAAAGCTATCTTATCTGTACCAAGAAAAGGTATCTGTACCACGAAGGGGTATCTGAACCAGGAAGAGAAAGGTGATGGCCTTTATCACCCGAGGAACTTTTATCTGCATAACAGTGCAATGTTTATTCACCATAAGTTTCCTCCCTTCACTCTCCCATAATTTGTCTCCACCATCCTGCAGTAGCCTCAAGCCCCTATTCCCTTTTGTAGCTCAGGATGCTATAGAAGCTGAAATCATCTGGCCCTTTTTTGAGTCTCATATTTTTTGGGGACTCCCATGCGTATGTATGTAAGTAATTAAAATGAGTTTCCTGCTGTTGATCTGCCTTATGTCAGTTTAACTCATAGGCCGACCAAAGAACCTAGAAGGATGGAGGTGAGCAGTTTTTCCCTCCCCTACATTTGTGATAAAGCCAAGTGCTGAGATGGCTCCGGGTGATGCTGGGTACCTGTGCGATGTCAGTCTCCCTCGTGGGTACAGGGCTTGGTACGCTGTCTGATATCTCAGTGACATTGACGCAGGTAGTGAGACCGGAGCCCTGGGCAAGAGCCACCAGGGCGGGCAAGAGGCCGCTGAGTCCTTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCTCATGAACGGCAGGAAGGTCACTGAAGAGGTGCAGTCCACCAGGGCCAGGAAGAAGGTGAGGACCAAGAAGGCGATGCTGTGGTGGCCGTCCAGCACCCAGGAGGTCATATTCCAGAGGAAGGCAAAGATGATGCAGGTGACGGTTCCCACGCCCAGCAGGGTGAAGATGATGGGCACTTCGGAAAGGCAGCTGGGCCGGAAGTGATGGAGCAGGGTGACCAGGAGGGGCCCGATGTTGGCCAGCTGGATGACCACCGTGAGGTAGGAGGGCAGGTACCAGCCCTCGGGCAGCTCCATCACCAGCAGGGGCAGCTCTACCCAGAGCCCATTGATGGTCACCCAGGAGCCCATTCCGAAGACGCAGACCAGCAGGTGCATCAGGAAGGCCATGGCGGTATCTGCCCTGGGCCAGAGGCTTTCTCAGATCAGCCTGCAGCGGGGCTGGCAGAGAAGGACACCAGGTGAGTAATTCCAGCTTCA
|
TGTAGCCCCCAAAGCAGGTCCCAAGCACGGAGAGGACCCCCAGGAACAGCAGAGACCTAGAGGAAAGTAGGGGAGGTGAGTGGAGGTGAGAAGCCTGACCTCTGACCCCCCCGCCCCACTGGGCGGCATGTGGATGGCCAGTGTCTCCATAGTTAGTTTAGACCCATGTGGAAAATTCCAGGTTGCCTGGCTCAAGTGGGTCAGGGAGGCTCCTGAGCAGGCAGGGCTGGCCTGAGTCATCCCCAGCATTAACGGCAGGGCCTGGCACCCCGGCAAGAAAAACATAATGGACTCTGGCACCGGATGGTCCTGGTTCAAATCCCAGTTCTACTGTTTAAGCTGAGACTCGCCTCTGAGCCTCCAAATCGGAGTTTTGCAAGGCTGCATGACCTCCAGGAGCAGAGCATGCAGGCCTGGCGCCGCTGTGGGCCCACCTGGTGTTTACCTGCTGGCATTTCCTCCTGCAACACACCCTCAGCCTCAGCCAGGAAGCTGAGTTGAAGTGAAGATGGCTGGATCGGGCATTGGCACAGTAGGGTTTGCTGTGCCTCCTCAGGAGACCCCTCCCCTTCTGGCCTCAGCTACCTGCCTCTGCAATGTGGAGTGTGCTGATCTCCAGGGGTCCTGGCAGCTGGCTTGTTGCTGCTAGGAGCATCTCTCTACAGGTGGCCTTCCATGCAAACCTACATCTGGGACCACTGTCCTTCCTCACAGGTCCTTGTCCCTGGGGTCCCAATCTCTAGAACCCCAAGACTGGTCCACGCCCTGGGTAAGAACAGACAGAGGTCTGCCTATACCCTTAAAGACTCTTTCTGCTCCAAGATTCTTGGATTCCATGACTCAGATTCTGTAATTCTAACATTTGGGGTTTCTTGGATTTGCAGGTCTGAGCCTTTGGTCCTGCTTCCCTCAAATCCTCCATCCTCTTTCCAGTTTCTAGGTCCCAAGGTAGAAAATCCAGCTTCCTGGCAAGCTTTCTGTCAAGCTCTTCTGTCCTCACTGTCCTTCTTCTGGGCTGGGAGAGTGGGTGTAAGCAGGCCAGTGAGGACAGGCAGGCCAGCGTGGATACGAGGCTGTAGGACCCACCTCAAATGTCAAGATCCCAAGGTGGTAGTTCTCCTACAGGGGTCTGAAGCCCCTGCCTCAGAACCGTCTGGTTTCCTTACTAAAAATTGAAATCCCAGGTCCCAGTCTAGGCTGGTTCAATCTGCATTTTATCAACTTGCCCAGCCATTCTTCTAGAACTGTGGCTCTAAGGGAACCAGCAGGAGGTTAGAGGCAGGAAGGCAGGGCCGAAATCCTGGGAATTAGACCAGGTCAAGCTCTTTCTCCAAGCCTCAGGGTTTCCCCTTATAAACGGGAACCTCAGTGGCTATCTGCTCCTCCTCATGGACTGATGACAATGATGGTCAACGCTTAGGCTGGACCTGCCACGTGCCAGGCACCGCTCCAAGAGCTTTATAGAATCAGCTCATATCATGCTTCCAGCAGTCCTAGGAGGTGGAATGTTACACTCCCATTTTCCGATAAATATCCCTGAGGCACAGAGAACTGAAGTGACTTGTCTTACACACAGCTGACAGGTGGCAGAGCTGGGATTTGGACCAGGGTGCTCCCCAAACATGTTCTTAACCACTACATGTACAGCCCAGTAGGTGCGTTTGGAATTCTGGGTTCTGAAATGAAGTGTTCCCCCACTAGGATTCCCTAGGACCAGATGAGGGCACACCTGTTAGGCAGGAACATGGAGACCAACGAGGCAAGAGGGTTGGCCACAATGCTGAGGGTGGCAGCCAGGTGGTAGGCAACTGGCCCATAGGACAGGCAGGAGTAGGTCTGCACAGAGGGCAGCATGCCGTTGGTGAGCGCGTTGACGAAGGCCACCAGGGTATAGATGAAGGCCAGGTGCGCCGGGCAGCAGGGGGCTGCTTTCTCCTCTAGATACCCCTGGCCCTGGCTGCTGTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGGAACTCCCTGCAAAGGACAAGACAGATCCCTGGTCAGGGGAGGGGATCAGGCTGCAGAACAACAATCATGACAGTGATAACAGAATACAGATCACCTGTTATTATTAATGGATAATGAATAAATAAACATAACTAACAAGGTGGCAATAATGACTGCTCATACTGACTGCCCACTGAGCACGGGCACTGTGCATGGATAAGCCCCTATGCCTCCTAACAGGGCTGCACAGTGGGCACCATCATCCCCCATTTTAGAGGGAACTGAGGTATCAGAATGCTTCGTCCCTTACCTGAGGGTCACAGGGAGAATGTGGCAAAGCCAGACTCCACCTGGTGCTTTCTGACTTGGAAGCTACACCTTTTATCACCCCACAGCAGTGGCAACCACAAACATGTTCAGAGGAGGAGCTAGCTGGAGACTGAGCAGTGGAGCCGCCCACCTAAGAGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGAAGAACACTGCTCCACCCATCGTCTAGGAAATAAGGGCCTTCAGGACATGCCATCCCAAAATATGACTGTAGGAGGCCAGAATATGCCACCCCAAAATTGACCTATTGGCATATTTTTTATTTCTAGCTGGTTATTTTGAAAAATTGCAGGCTAAGGAGTAGCTCTGAAAAGTTGCCATTTTGTAAGATAAATTTACATCTAAAGGAAATTTTTATTAGTAAAGCTATCTTATCTGTACCAAGAAAAGGTATCTGTACCACGAAGGGGTATCTGAACCAGGAAGAGAAAGGTGATGGCCTTTATCACCCGAGGAACTTTTATCTGCATAACAGTGCAATGTTTATTCACCATAAGTTTCCTCCCTTCACTCTCCCATAATTTGTCTCCACCATCCTGCAGTAGCCTCAAGCCCCTATTCCCTTTTGTAGCTCAGGATGCTATAGAAGCTGAAATCATCTGGCCCTTTTTTGAGTCTCATATTTTTTGGGGACTCCCATGCGTATGTATGTAAGTAATTAAAATGAGTTTCCTGCTGTTGATCTGCCTTATGTCAGTTTAACTCATAGGCCGACCAAAGAACCTAGAAGGATGGAGGTGAGCAGTTTTTCCCTCCCCTACATTTGTGATAAAGCCAAGTGCTGAGATGGCTCCGGGTGATGCTGGGTACCTGTGCGATGTCAGTCTCCCTCGTGGGTACAGGGCTTGGTACGCTGTCTGATATCTCAGTGACATTGACGCAGGTAGTGAGACCGGAGCCCTGGGCAAGAGCCACCAGGGCGGGCAAGAGGCCGCTGAGTCCTTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCTCATGAACGGCAGGAAGGTCACTGAAGAGGTGCAGTCCACCAGGGCCAGGAAGAAGGTGAGGACCAAGAAGGCGATGCTGTGGTGGCCGTCCAGCACCCAGGAGGTCATATTCCAGAGGAAGGCAAAGATGATGCAGGTGACGGTTCCCACGCCCAGCAGGGTGAAGATGATGGGCACTTCGGAAAGGCAGCTGGGCCGGAAGTGATGGAGCAGGGTGACCAGGAGGGGCCCGATGTTGGCCAGCTGGATGACCACCGTGAGGTAGGAGGGCAGGTACCAGCCCTCGGGCAGCTCCATCACCAGCAGGGGCAGCTCTACCCAGAGCCCATTGATGGTCACCCAGGAGCCCATTCCGAAGACGCAGACCAGCAGGTGCATCAGGAAGGCCATGGCGGTATCTGCCCTGGGCCAGAGGCTTTCTCAGATCAGCCTGCAGCGGGGCTGGCAGAGAAGGACACCAGGTGAGTAATTCCAGCTTCAN
|
pathogenic
| 310,592 |
Clinical significance of chromosome 20, position 764018, gene SLC52A3 (solute carrier family 52 member 3): benign or pathogenic? Name the disease(s) if pathogenic.
|
benign
|
CAGGGAGGCTCCTGAGCAGGCAGGGCTGGCCTGAGTCATCCCCAGCATTAACGGCAGGGCCTGGCACCCCGGCAAGAAAAACATAATGGACTCTGGCACCGGATGGTCCTGGTTCAAATCCCAGTTCTACTGTTTAAGCTGAGACTCGCCTCTGAGCCTCCAAATCGGAGTTTTGCAAGGCTGCATGACCTCCAGGAGCAGAGCATGCAGGCCTGGCGCCGCTGTGGGCCCACCTGGTGTTTACCTGCTGGCATTTCCTCCTGCAACACACCCTCAGCCTCAGCCAGGAAGCTGAGTTGAAGTGAAGATGGCTGGATCGGGCATTGGCACAGTAGGGTTTGCTGTGCCTCCTCAGGAGACCCCTCCCCTTCTGGCCTCAGCTACCTGCCTCTGCAATGTGGAGTGTGCTGATCTCCAGGGGTCCTGGCAGCTGGCTTGTTGCTGCTAGGAGCATCTCTCTACAGGTGGCCTTCCATGCAAACCTACATCTGGGACCACTGTCCTTCCTCACAGGTCCTTGTCCCTGGGGTCCCAATCTCTAGAACCCCAAGACTGGTCCACGCCCTGGGTAAGAACAGACAGAGGTCTGCCTATACCCTTAAAGACTCTTTCTGCTCCAAGATTCTTGGATTCCATGACTCAGATTCTGTAATTCTAACATTTGGGGTTTCTTGGATTTGCAGGTCTGAGCCTTTGGTCCTGCTTCCCTCAAATCCTCCATCCTCTTTCCAGTTTCTAGGTCCCAAGGTAGAAAATCCAGCTTCCTGGCAAGCTTTCTGTCAAGCTCTTCTGTCCTCACTGTCCTTCTTCTGGGCTGGGAGAGTGGGTGTAAGCAGGCCAGTGAGGACAGGCAGGCCAGCGTGGATACGAGGCTGTAGGACCCACCTCAAATGTCAAGATCCCAAGGTGGTAGTTCTCCTACAGGGGTCTGAAGCCCCTGCCTCAGAACCGTCTGGTTTCCTTACTAAAAATTGAAATCCCAGGTCCCAGTCTAGGCTGGTTCAATCTGCATTTTATCAACTTGCCCAGCCATTCTTCTAGAACTGTGGCTCTAAGGGAACCAGCAGGAGGTTAGAGGCAGGAAGGCAGGGCCGAAATCCTGGGAATTAGACCAGGTCAAGCTCTTTCTCCAAGCCTCAGGGTTTCCCCTTATAAACGGGAACCTCAGTGGCTATCTGCTCCTCCTCATGGACTGATGACAATGATGGTCAACGCTTAGGCTGGACCTGCCACGTGCCAGGCACCGCTCCAAGAGCTTTATAGAATCAGCTCATATCATGCTTCCAGCAGTCCTAGGAGGTGGAATGTTACACTCCCATTTTCCGATAAATATCCCTGAGGCACAGAGAACTGAAGTGACTTGTCTTACACACAGCTGACAGGTGGCAGAGCTGGGATTTGGACCAGGGTGCTCCCCAAACATGTTCTTAACCACTACATGTACAGCCCAGTAGGTGCGTTTGGAATTCTGGGTTCTGAAATGAAGTGTTCCCCCACTAGGATTCCCTAGGACCAGATGAGGGCACACCTGTTAGGCAGGAACATGGAGACCAACGAGGCAAGAGGGTTGGCCACAATGCTGAGGGTGGCAGCCAGGTGGTAGGCAACTGGCCCATAGGACAGGCAGGAGTAGGTCTGCACAGAGGGCAGCATGCCGTTGGTGAGCGCGTTGACGAAGGCCACCAGGGTATAGATGAAGGCCAGGTGCGCCGGGCAGCAGGGGGCTGCTTTCTCCTCTAGATACCCCTGGCCCTGGCTGCTGTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGGAACTCCCTGCAAAGGACAAGACAGATCCCTGGTCAGGGGAGGGGATCAGGCTGCAGAACAACAATCATGACAGTGATAACAGAATACAGATCACCTGTTATTATTAATGGATAATGAATAAATAAACATAACTAACAAGGTGGCAATAATGACTGCTCATACTGACTGCCCACTGAGCACGGGCACTGTGCATGGATAAGCCCCTATGCCTCCTAACAGGGCTGCACAGTGGGCACCATCATCCCCCATTTTAGAGGGAACTGAGGTATCAGAATGCTTCGTCCCTTACCTGAGGGTCACAGGGAGAATGTGGCAAAGCCAGACTCCACCTGGTGCTTTCTGACTTGGAAGCTACACCTTTTATCACCCCACAGCAGTGGCAACCACAAACATGTTCAGAGGAGGAGCTAGCTGGAGACTGAGCAGTGGAGCCGCCCACCTAAGAGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGAAGAACACTGCTCCACCCATCGTCTAGGAAATAAGGGCCTTCAGGACATGCCATCCCAAAATATGACTGTAGGAGGCCAGAATATGCCACCCCAAAATTGACCTATTGGCATATTTTTTATTTCTAGCTGGTTATTTTGAAAAATTGCAGGCTAAGGAGTAGCTCTGAAAAGTTGCCATTTTGTAAGATAAATTTACATCTAAAGGAAATTTTTATTAGTAAAGCTATCTTATCTGTACCAAGAAAAGGTATCTGTACCACGAAGGGGTATCTGAACCAGGAAGAGAAAGGTGATGGCCTTTATCACCCGAGGAACTTTTATCTGCATAACAGTGCAATGTTTATTCACCATAAGTTTCCTCCCTTCACTCTCCCATAATTTGTCTCCACCATCCTGCAGTAGCCTCAAGCCCCTATTCCCTTTTGTAGCTCAGGATGCTATAGAAGCTGAAATCATCTGGCCCTTTTTTGAGTCTCATATTTTTTGGGGACTCCCATGCGTATGTATGTAAGTAATTAAAATGAGTTTCCTGCTGTTGATCTGCCTTATGTCAGTTTAACTCATAGGCCGACCAAAGAACCTAGAAGGATGGAGGTGAGCAGTTTTTCCCTCCCCTACATTTGTGATAAAGCCAAGTGCTGAGATGGCTCCGGGTGATGCTGGGTACCTGTGCGATGTCAGTCTCCCTCGTGGGTACAGGGCTTGGTACGCTGTCTGATATCTCAGTGACATTGACGCAGGTAGTGAGACCGGAGCCCTGGGCAAGAGCCACCAGGGCGGGCAAGAGGCCGCTGAGTCCTTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCTCATGAACGGCAGGAAGGTCACTGAAGAGGTGCAGTCCACCAGGGCCAGGAAGAAGGTGAGGACCAAGAAGGCGATGCTGTGGTGGCCGTCCAGCACCCAGGAGGTCATATTCCAGAGGAAGGCAAAGATGATGCAGGTGACGGTTCCCACGCCCAGCAGGGTGAAGATGATGGGCACTTCGGAAAGGCAGCTGGGCCGGAAGTGATGGAGCAGGGTGACCAGGAGGGGCCCGATGTTGGCCAGCTGGATGACCACCGTGAGGTAGGAGGGCAGGTACCAGCCCTCGGGCAGCTCCATCACCAGCAGGGGCAGCTCTACCCAGAGCCCATTGATGGTCACCCAGGAGCCCATTCCGAAGACGCAGACCAGCAGGTGCATCAGGAAGGCCATGGCGGTATCTGCCCTGGGCCAGAGGCTTTCTCAGATCAGCCTGCAGCGGGGCTGGCAGAGAAGGACACCAGGTGAGTAATTCCAGCTTCACCACCTAGCAAGATGCTGGGACCTGGGGCCCAGAGTTTTCTCTTATTACTCCCCTTCCTGTGAACAAGCTGGCTTTTTTTTTTTTCCTTTGAGACATAGTTTCACTCTTTTAGTCCAGGCTGGAGTGCAATGGGATGATCTCGGCTCAGTGACCCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTTTCCCAAAT
|
CAGGGAGGCTCCTGAGCAGGCAGGGCTGGCCTGAGTCATCCCCAGCATTAACGGCAGGGCCTGGCACCCCGGCAAGAAAAACATAATGGACTCTGGCACCGGATGGTCCTGGTTCAAATCCCAGTTCTACTGTTTAAGCTGAGACTCGCCTCTGAGCCTCCAAATCGGAGTTTTGCAAGGCTGCATGACCTCCAGGAGCAGAGCATGCAGGCCTGGCGCCGCTGTGGGCCCACCTGGTGTTTACCTGCTGGCATTTCCTCCTGCAACACACCCTCAGCCTCAGCCAGGAAGCTGAGTTGAAGTGAAGATGGCTGGATCGGGCATTGGCACAGTAGGGTTTGCTGTGCCTCCTCAGGAGACCCCTCCCCTTCTGGCCTCAGCTACCTGCCTCTGCAATGTGGAGTGTGCTGATCTCCAGGGGTCCTGGCAGCTGGCTTGTTGCTGCTAGGAGCATCTCTCTACAGGTGGCCTTCCATGCAAACCTACATCTGGGACCACTGTCCTTCCTCACAGGTCCTTGTCCCTGGGGTCCCAATCTCTAGAACCCCAAGACTGGTCCACGCCCTGGGTAAGAACAGACAGAGGTCTGCCTATACCCTTAAAGACTCTTTCTGCTCCAAGATTCTTGGATTCCATGACTCAGATTCTGTAATTCTAACATTTGGGGTTTCTTGGATTTGCAGGTCTGAGCCTTTGGTCCTGCTTCCCTCAAATCCTCCATCCTCTTTCCAGTTTCTAGGTCCCAAGGTAGAAAATCCAGCTTCCTGGCAAGCTTTCTGTCAAGCTCTTCTGTCCTCACTGTCCTTCTTCTGGGCTGGGAGAGTGGGTGTAAGCAGGCCAGTGAGGACAGGCAGGCCAGCGTGGATACGAGGCTGTAGGACCCACCTCAAATGTCAAGATCCCAAGGTGGTAGTTCTCCTACAGGGGTCTGAAGCCCCTGCCTCAGAACCGTCTGGTTTCCTTACTAAAAATTGAAATCCCAGGTCCCAGTCTAGGCTGGTTCAATCTGCATTTTATCAACTTGCCCAGCCATTCTTCTAGAACTGTGGCTCTAAGGGAACCAGCAGGAGGTTAGAGGCAGGAAGGCAGGGCCGAAATCCTGGGAATTAGACCAGGTCAAGCTCTTTCTCCAAGCCTCAGGGTTTCCCCTTATAAACGGGAACCTCAGTGGCTATCTGCTCCTCCTCATGGACTGATGACAATGATGGTCAACGCTTAGGCTGGACCTGCCACGTGCCAGGCACCGCTCCAAGAGCTTTATAGAATCAGCTCATATCATGCTTCCAGCAGTCCTAGGAGGTGGAATGTTACACTCCCATTTTCCGATAAATATCCCTGAGGCACAGAGAACTGAAGTGACTTGTCTTACACACAGCTGACAGGTGGCAGAGCTGGGATTTGGACCAGGGTGCTCCCCAAACATGTTCTTAACCACTACATGTACAGCCCAGTAGGTGCGTTTGGAATTCTGGGTTCTGAAATGAAGTGTTCCCCCACTAGGATTCCCTAGGACCAGATGAGGGCACACCTGTTAGGCAGGAACATGGAGACCAACGAGGCAAGAGGGTTGGCCACAATGCTGAGGGTGGCAGCCAGGTGGTAGGCAACTGGCCCATAGGACAGGCAGGAGTAGGTCTGCACAGAGGGCAGCATGCCGTTGGTGAGCGCGTTGACGAAGGCCACCAGGGTATAGATGAAGGCCAGGTGCGCCGGGCAGCAGGGGGCTGCTTTCTCCTCTAGATACCCCTGGCCCTGGCTGCTGTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGGAACTCCCTGCAAAGGACAAGACAGGTCAATCAGATCCCTGGTCAGGGGAGGGGATCAGGCTGCAGAACAACAATCATGACAGTGATAACAGAATACAGATCACCTGTTATTATTAATGGATAATGAATAAATAAACATAACTAACAAGGTGGCAATAATGACTGCTCATACTGACTGCCCACTGAGCACGGGCACTGTGCATGGATAAGCCCCTATGCCTCCTAACAGGGCTGCACAGTGGGCACCATCATCCCCCATTTTAGAGGGAACTGAGGTATCAGAATGCTTCGTCCCTTACCTGAGGGTCACAGGGAGAATGTGGCAAAGCCAGACTCCACCTGGTGCTTTCTGACTTGGAAGCTACACCTTTTATCACCCCACAGCAGTGGCAACCACAAACATGTTCAGAGGAGGAGCTAGCTGGAGACTGAGCAGTGGAGCCGCCCACCTAAGAGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGAAGAACACTGCTCCACCCATCGTCTAGGAAATAAGGGCCTTCAGGACATGCCATCCCAAAATATGACTGTAGGAGGCCAGAATATGCCACCCCAAAATTGACCTATTGGCATATTTTTTATTTCTAGCTGGTTATTTTGAAAAATTGCAGGCTAAGGAGTAGCTCTGAAAAGTTGCCATTTTGTAAGATAAATTTACATCTAAAGGAAATTTTTATTAGTAAAGCTATCTTATCTGTACCAAGAAAAGGTATCTGTACCACGAAGGGGTATCTGAACCAGGAAGAGAAAGGTGATGGCCTTTATCACCCGAGGAACTTTTATCTGCATAACAGTGCAATGTTTATTCACCATAAGTTTCCTCCCTTCACTCTCCCATAATTTGTCTCCACCATCCTGCAGTAGCCTCAAGCCCCTATTCCCTTTTGTAGCTCAGGATGCTATAGAAGCTGAAATCATCTGGCCCTTTTTTGAGTCTCATATTTTTTGGGGACTCCCATGCGTATGTATGTAAGTAATTAAAATGAGTTTCCTGCTGTTGATCTGCCTTATGTCAGTTTAACTCATAGGCCGACCAAAGAACCTAGAAGGATGGAGGTGAGCAGTTTTTCCCTCCCCTACATTTGTGATAAAGCCAAGTGCTGAGATGGCTCCGGGTGATGCTGGGTACCTGTGCGATGTCAGTCTCCCTCGTGGGTACAGGGCTTGGTACGCTGTCTGATATCTCAGTGACATTGACGCAGGTAGTGAGACCGGAGCCCTGGGCAAGAGCCACCAGGGCGGGCAAGAGGCCGCTGAGTCCTTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCTCATGAACGGCAGGAAGGTCACTGAAGAGGTGCAGTCCACCAGGGCCAGGAAGAAGGTGAGGACCAAGAAGGCGATGCTGTGGTGGCCGTCCAGCACCCAGGAGGTCATATTCCAGAGGAAGGCAAAGATGATGCAGGTGACGGTTCCCACGCCCAGCAGGGTGAAGATGATGGGCACTTCGGAAAGGCAGCTGGGCCGGAAGTGATGGAGCAGGGTGACCAGGAGGGGCCCGATGTTGGCCAGCTGGATGACCACCGTGAGGTAGGAGGGCAGGTACCAGCCCTCGGGCAGCTCCATCACCAGCAGGGGCAGCTCTACCCAGAGCCCATTGATGGTCACCCAGGAGCCCATTCCGAAGACGCAGACCAGCAGGTGCATCAGGAAGGCCATGGCGGTATCTGCCCTGGGCCAGAGGCTTTCTCAGATCAGCCTGCAGCGGGGCTGGCAGAGAAGGACACCAGGTGAGTAATTCCAGCTTCACCACCTAGCAAGATGCTGGGACCTGGGGCCCAGAGTTTTCTCTTATTACTCCCCTTCCTGTGAACAAGCTGGCTTTTTTTTTTTTCCTTTGAGACATAGTTTCACTCTTTTAGTCCAGGCTGGAGTGCAATGGGATGATCTCGGCTCAGTGACCCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGT
|
benign
| 310,600 |
The genetic variant at chromosome 20, position 765779, affecting gene SLC52A3 (solute carrier family 52 member 3): benign or pathogenic? Disease name(s) if pathogenic?
|
benign
|
GTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGGAACTCCCTGCAAAGGACAAGACAGATCCCTGGTCAGGGGAGGGGATCAGGCTGCAGAACAACAATCATGACAGTGATAACAGAATACAGATCACCTGTTATTATTAATGGATAATGAATAAATAAACATAACTAACAAGGTGGCAATAATGACTGCTCATACTGACTGCCCACTGAGCACGGGCACTGTGCATGGATAAGCCCCTATGCCTCCTAACAGGGCTGCACAGTGGGCACCATCATCCCCCATTTTAGAGGGAACTGAGGTATCAGAATGCTTCGTCCCTTACCTGAGGGTCACAGGGAGAATGTGGCAAAGCCAGACTCCACCTGGTGCTTTCTGACTTGGAAGCTACACCTTTTATCACCCCACAGCAGTGGCAACCACAAACATGTTCAGAGGAGGAGCTAGCTGGAGACTGAGCAGTGGAGCCGCCCACCTAAGAGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGAAGAACACTGCTCCACCCATCGTCTAGGAAATAAGGGCCTTCAGGACATGCCATCCCAAAATATGACTGTAGGAGGCCAGAATATGCCACCCCAAAATTGACCTATTGGCATATTTTTTATTTCTAGCTGGTTATTTTGAAAAATTGCAGGCTAAGGAGTAGCTCTGAAAAGTTGCCATTTTGTAAGATAAATTTACATCTAAAGGAAATTTTTATTAGTAAAGCTATCTTATCTGTACCAAGAAAAGGTATCTGTACCACGAAGGGGTATCTGAACCAGGAAGAGAAAGGTGATGGCCTTTATCACCCGAGGAACTTTTATCTGCATAACAGTGCAATGTTTATTCACCATAAGTTTCCTCCCTTCACTCTCCCATAATTTGTCTCCACCATCCTGCAGTAGCCTCAAGCCCCTATTCCCTTTTGTAGCTCAGGATGCTATAGAAGCTGAAATCATCTGGCCCTTTTTTGAGTCTCATATTTTTTGGGGACTCCCATGCGTATGTATGTAAGTAATTAAAATGAGTTTCCTGCTGTTGATCTGCCTTATGTCAGTTTAACTCATAGGCCGACCAAAGAACCTAGAAGGATGGAGGTGAGCAGTTTTTCCCTCCCCTACATTTGTGATAAAGCCAAGTGCTGAGATGGCTCCGGGTGATGCTGGGTACCTGTGCGATGTCAGTCTCCCTCGTGGGTACAGGGCTTGGTACGCTGTCTGATATCTCAGTGACATTGACGCAGGTAGTGAGACCGGAGCCCTGGGCAAGAGCCACCAGGGCGGGCAAGAGGCCGCTGAGTCCTTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCTCATGAACGGCAGGAAGGTCACTGAAGAGGTGCAGTCCACCAGGGCCAGGAAGAAGGTGAGGACCAAGAAGGCGATGCTGTGGTGGCCGTCCAGCACCCAGGAGGTCATATTCCAGAGGAAGGCAAAGATGATGCAGGTGACGGTTCCCACGCCCAGCAGGGTGAAGATGATGGGCACTTCGGAAAGGCAGCTGGGCCGGAAGTGATGGAGCAGGGTGACCAGGAGGGGCCCGATGTTGGCCAGCTGGATGACCACCGTGAGGTAGGAGGGCAGGTACCAGCCCTCGGGCAGCTCCATCACCAGCAGGGGCAGCTCTACCCAGAGCCCATTGATGGTCACCCAGGAGCCCATTCCGAAGACGCAGACCAGCAGGTGCATCAGGAAGGCCATGGCGGTATCTGCCCTGGGCCAGAGGCTTTCTCAGATCAGCCTGCAGCGGGGCTGGCAGAGAAGGACACCAGGTGAGTAATTCCAGCTTCACCACCTAGCAAGATGCTGGGACCTGGGGCCCAGAGTTTTCTCTTATTACTCCCCTTCCTGTGAACAAGCTGGCTTTTTTTTTTTTCCTTTGAGACATAGTTTCACTCTTTTAGTCCAGGCTGGAGTGCAATGGGATGATCTCGGCTCAGTGACCCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTTTCCCAAATAGCTGGGATTACAGGTGCATGCCACCATGCCAGCTAATTTTGTATTTTTAGTGGAAACAGGGTTTCCCCACGTTGGTCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGTGTGAGCCACCACGCCTGGCCCAAGCTGTCTTTTTATTAGCAGAAAACAAGAGAAGCCTTTCCTAACCGTGATTCATGAAAGAAAAGTTCAATCCGACACACAAAAGCAAACAAAGCAGCTTCTGCAAAAGATACCAACAGCAAGGTCAAAAGTTAAATGAAAACACGGGGAAAACATTTGCCACATAAATCACAGACAAAGGGCTCATCTTCCTTGTCAGGCCTCTGAGCCCAAGCCTGCGCGTGTACATCCAGATGGCCTGAAGTAACTGAAGAATCACAAAAGAAGTGAAAATGGCCGGTTCCTGCCTTAACTGATGATATTACCTTGTGAAATTCCTTCTCCTGGCTCAGAAGCTCCCCTACTGAGCACCTTGTGACCCCCACCCCTGCCCGCCAGGGAACAACCCCCTTTGACTGTAATTTTCCACTACCTACCCAAATCCTATAAAACTGCCCCACCCCTATCTCCCTTCGCTGACTCTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCTTGTTGCTCACACAAAGCCTGTTTGATGGTCTCTTCACATGGACGCGCGTGACATTCCTAATATATAAAGAGTTTTTAAAAATCAAGAACAAAGAGACCCCATATAGAAGAGGGCCAAGGATATGAACAATTCAGAGAAAAAGGTACAAATAAGCTTTAAACACATGAAAATATTATCACCTTCATTCACAATAGGAAAACTACTCCAGGTGCCATTTCTCACCATGAGATTGTCCCAAAGCCTGACAAAATGACTCATGTTCAAGGTTATTATAGATTGCGATCTTGTTGGTAATAGCAAGTTATGGGAAATTTTCTCCTGGGTGGCTACCAACAGAGAGGGGGCTAATTAAAGGGACCTGCTGGAATACCACATACCTGTTTAAAGGAATAAGAAATAAGGAAAGCAGATCTTGGTGACTGATAAGGAAAGGTCTCCAGGCTATAATAATAATCTTGAAACAAAATCAAGGCAGGTAAATGGAACCAGGAAAAAGTGTACTGCCTTTTGGTCATAGAAGAGGAGGAAAAACATGTTTTCTTTGCTTGTACTTGCACAAAGCAACCCTTGAAGGACACACAGGGACTGCAGGGATGTTGGTGATGCCTCTGTATATCTTTTTTTTTTTTCTTGTGACAGAGTCTTACTCTGTCACCAGGCTGGAGTGAAGTGGCACAATCTCAGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACTACGCCCAGCTAATTTTTTGTATTTTTATTAGAGATGGGGTTTCTCCGTGTTAGCCAGGATGGTCTCAATCTCCTGATCTTGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCTGGCCCTGCCTCTGTATATCTTTTAATAAGAGTTTTGATTTGTGAACCATGTAAACATATTACCTGATGCAAATATATGGTTACCTGAAATAAGATTTCAATCTGGCTTTTTTTCCTCCTGAAATTATATCACTCTCTACGTGGCCTTTGGAGACCACTTCCTCTAGCCCTCCAGAG
|
GTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGGAACTCCCTGCAAAGGACAAGACAGATCCCTGGTCAGGGGAGGGGATCAGGCTGCAGAACAACAATCATGACAGTGATAACAGAATACAGATCACCTGTTATTATTAATGGATAATGAATAAATAAACATAACTAACAAGGTGGCAATAATGACTGCTCATACTGACTGCCCACTGAGCACGGGCACTGTGCATGGATAAGCCCCTATGCCTCCTAACAGGGCTGCACAGTGGGCACCATCATCCCCCATTTTAGAGGGAACTGAGGTATCAGAATGCTTCGTCCCTTACCTGAGGGTCACAGGGAGAATGTGGCAAAGCCAGACTCCACCTGGTGCTTTCTGACTTGGAAGCTACACCTTTTATCACCCCACAGCAGTGGCAACCACAAACATGTTCAGAGGAGGAGCTAGCTGGAGACTGAGCAGTGGAGCCGCCCACCTAAGAGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGAAGAACACTGCTCCACCCATCGTCTAGGAAATAAGGGCCTTCAGGACATGCCATCCCAAAATATGACTGTAGGAGGCCAGAATATGCCACCCCAAAATTGACCTATTGGCATATTTTTTATTTCTAGCTGGTTATTTTGAAAAATTGCAGGCTAAGGAGTAGCTCTGAAAAGTTGCCATTTTGTAAGATAAATTTACATCTAAAGGAAATTTTTATTAGTAAAGCTATCTTATCTGTACCAAGAAAAGGTATCTGTACCACGAAGGGGTATCTGAACCAGGAAGAGAAAGGTGATGGCCTTTATCACCCGAGGAACTTTTATCTGCATAACAGTGCAATGTTTATTCACCATAAGTTTCCTCCCTTCACTCTCCCATAATTTGTCTCCACCATCCTGCAGTAGCCTCAAGCCCCTATTCCCTTTTGTAGCTCAGGATGCTATAGAAGCTGAAATCATCTGGCCCTTTTTTGAGTCTCATATTTTTTGGGGACTCCCATGCGTATGTATGTAAGTAATTAAAATGAGTTTCCTGCTGTTGATCTGCCTTATGTCAGTTTAACTCATAGGCCGACCAAAGAACCTAGAAGGATGGAGGTGAGCAGTTTTTCCCTCCCCTACATTTGTGATAAAGCCAAGTGCTGAGATGGCTCCGGGTGATGCTGGGTACCTGTGCGATGTCAGTCTCCCTCGTGGGTACAGGGCTTGGTACGCTGTCTGATATCTCAGTGACATTGACGCAGGTAGTGAGACCGGAGCCCTGGGCAAGAGCCACCAGGGCGGGCAAGAGGCCGCTGAGTCCTTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCTCATGAACGGCAGGAAGGTCACTGAAGAGGTGCAGTCCACCAGGGCCAGGAAGAAGGTGAGGACCAAGAAGGCGATGCTGTGGTGGCCGTCCAGCACCCAGGAGGTCATATTCCAGAGGAAGGCAAAGATGATGCAGGTGACGGTTCCCACGCCCAGCAGGGTGAAGATGATGGGCACTTCGGAAAGGCAGCTGGGCCGGAAGTGATGGAGCAGGGTGACCAGGAGGGGCCCGATGTTGGCCAGCTGGATGACCACCGTGAGGTAGGAGGGCAGGTACCAGCCCTCGGGCAGCTCCATCACCAGCAGGGGCAGCTCTACCCAGAGCCCATTGATGGTCACCCAGGAGCCCATTCCGAAGACGCAGACCAGCAGGTGCATCAGGAAGGCCATGGCGGTGGGCCAGAGGCTTTCTCAGATCAGCCTGCAGCGGGGCTGGCAGAGAAGGACACCAGGTGAGTAATTCCAGCTTCACCACCTAGCAAGATGCTGGGACCTGGGGCCCAGAGTTTTCTCTTATTACTCCCCTTCCTGTGAACAAGCTGGCTTTTTTTTTTTTCCTTTGAGACATAGTTTCACTCTTTTAGTCCAGGCTGGAGTGCAATGGGATGATCTCGGCTCAGTGACCCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTTTCCCAAATAGCTGGGATTACAGGTGCATGCCACCATGCCAGCTAATTTTGTATTTTTAGTGGAAACAGGGTTTCCCCACGTTGGTCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGTGTGAGCCACCACGCCTGGCCCAAGCTGTCTTTTTATTAGCAGAAAACAAGAGAAGCCTTTCCTAACCGTGATTCATGAAAGAAAAGTTCAATCCGACACACAAAAGCAAACAAAGCAGCTTCTGCAAAAGATACCAACAGCAAGGTCAAAAGTTAAATGAAAACACGGGGAAAACATTTGCCACATAAATCACAGACAAAGGGCTCATCTTCCTTGTCAGGCCTCTGAGCCCAAGCCTGCGCGTGTACATCCAGATGGCCTGAAGTAACTGAAGAATCACAAAAGAAGTGAAAATGGCCGGTTCCTGCCTTAACTGATGATATTACCTTGTGAAATTCCTTCTCCTGGCTCAGAAGCTCCCCTACTGAGCACCTTGTGACCCCCACCCCTGCCCGCCAGGGAACAACCCCCTTTGACTGTAATTTTCCACTACCTACCCAAATCCTATAAAACTGCCCCACCCCTATCTCCCTTCGCTGACTCTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCTTGTTGCTCACACAAAGCCTGTTTGATGGTCTCTTCACATGGACGCGCGTGACATTCCTAATATATAAAGAGTTTTTAAAAATCAAGAACAAAGAGACCCCATATAGAAGAGGGCCAAGGATATGAACAATTCAGAGAAAAAGGTACAAATAAGCTTTAAACACATGAAAATATTATCACCTTCATTCACAATAGGAAAACTACTCCAGGTGCCATTTCTCACCATGAGATTGTCCCAAAGCCTGACAAAATGACTCATGTTCAAGGTTATTATAGATTGCGATCTTGTTGGTAATAGCAAGTTATGGGAAATTTTCTCCTGGGTGGCTACCAACAGAGAGGGGGCTAATTAAAGGGACCTGCTGGAATACCACATACCTGTTTAAAGGAATAAGAAATAAGGAAAGCAGATCTTGGTGACTGATAAGGAAAGGTCTCCAGGCTATAATAATAATCTTGAAACAAAATCAAGGCAGGTAAATGGAACCAGGAAAAAGTGTACTGCCTTTTGGTCATAGAAGAGGAGGAAAAACATGTTTTCTTTGCTTGTACTTGCACAAAGCAACCCTTGAAGGACACACAGGGACTGCAGGGATGTTGGTGATGCCTCTGTATATCTTTTTTTTTTTTCTTGTGACAGAGTCTTACTCTGTCACCAGGCTGGAGTGAAGTGGCACAATCTCAGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACTACGCCCAGCTAATTTTTTGTATTTTTATTAGAGATGGGGTTTCTCCGTGTTAGCCAGGATGGTCTCAATCTCCTGATCTTGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCTGGCCCTGCCTCTGTATATCTTTTAATAAGAGTTTTGATTTGTGAACCATGTAAACATATTACCTGATGCAAATATATGGTTACCTGAAATAAGATTTCAATCTGGCTTTTTTTCCTCCTGAAATTATATCACTCTCTACGTGGCCTTTGGAGACCACTTCCTCTAGCCCTCCAGAGNNNNNNNNN
|
benign
| 310,623 |
Variant at chromosome position 2431011, chromosome 20, gene TGM6 (transglutaminase 6): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
|
benign
|
ATAGGCACAACACCACGCCCTGCTAATTTTGTAATTTTTTTTAGTAGAGACAGGGTTTCAACATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTCACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACGGCACCCGGCCTATAATTATTATTTATTACTGTTATTGTAATAAAGGTTCTTCCAATAATGACCTACTGAACTAAGGGAGCCCATAAAACAAAATCATACTTTAACACATGAATCACCCTACTGGCATTCAGGAGAATCTACGATATGCAAAGCCCTGGGGTAGCAGAGCGCATGAGCCAAGTTGAGCCCTTTAAGGACCTTTTCCATGAGTTAAAAACTCAGATGCCTTCAGAGTCAGAAAGAAAACAGAAATAAAGGAAGCAGTGGGAGTAGAACAATAGGGAATGAGAGGGCCTGGGAGCAAACCAGAAAGAGCACATTGAACCTAAAAGAAAGAATATATAGTAGTCAGAAAAAAAAAAAAAACAAATATGGTCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCAAGGCGAGAGGATCATGAGGTCAAAAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAGAATACAAAAATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTCGCGACAGAGCGAGACTCCGTCTCCAAAAAAAAAAAAAGACTGAGGTTTATGGTGATCCATGCTTACAAGAAAAGAACACCTAGGAAGGATGTTTCTGACTGGTGAGAGGGAGACAGAGATGGCCAGGACCACAGGAGCTCAGAGAGCATGAGAGCACTGGGAGGAGGTGTCAGTGAAGACTTCCCTCAGTTGGTGGGGCTGACCAGGACTGGGCCTTCATGGAGGGGGGCATTTGGAAAAGTTGTAGGGAATTGGCCTCACAGGATTGGAAGATTGAGGCATGCCTTTGGTCTTCCTCTTCTCTGCTCCTAGCACATAGTAGGTGCTCAATAAACAGAGAAGGATGGGATGAATGGATGATGGGCTGAGAGATTTTCATCTTGAATAAGTAGGGAAAGCTTGGAAACATCTCTGGGGGCTCTTGGAGAAATTATCTGGTATTGTGGTAGCTCCCTGACCTAAATTTGACTCCCACCTCATCTTAATTTCTTGGTTTACTTCCTATATGAGTTTGAACAGGAAAATACCCACTCTGGGCCTTAGGTTTCTTCATCTGAGAACCGAGGAAAATAAAGCCTGTCTCAGAATGGTTGCAAGGACCAGAGAGAAAGGAGCTATTAGTTGTGCATTCCCTTCCTTCTTCCCAGTGCCATTGAAGAAAGACATCAAGCCCCAACTCCCACTTCTGCTTTCCCTTCCAGAGAAGAGAATCCCAATTACAATATCTTACTCTAAGTATAAAGAAGACCTGACAGAGGACAAGAAGATCCTGTTGGCTGCCATGTGCCTTGTCACCAAAGGAGAGAAGCTTCTGGTGGAGAAGGACATTACTCTAGAGGACTTCATCACCATCAAGGTGACCTCAGCCTGCATCTACCATGCTGTTCCTAGTGGCACCCACTCCCCAGAGCTGGGGGAGGGCGTCAGAAGCTGGGGGGGTTTGTGCCTTTAACTCCAGCTTTAGCTCTCCAGGGTGGGAGGAGTGGGTTGGACATAAGGGGATGGGTGCAATAGTGGCACTCAGCAATGGGGTATATGGAGGTGGGGGTGGACATGACTAATGATCCATCCTCTAACTCAGCCAGGACCATCGGTTTCCTGGAGGGAGGAGGGGTAGGCGCGATGGCTCATGGGTGTTGTCCCCTTCAGGTTCTGGGCCCAGCCATGGTGGGAGTGGCAGTTACAGTGGAAGTGACAGTAGTCAACCCCCTCATAGAGAGAGTGAAGGACTGTGCGCTGATGGTGGAGGGCAGCGGCCTTCTCCAGGAACAGCTCAGCATCGAGTAAGTGCCAGCCTGGGGGGCTGGCAGGGAATGGGGCTCTCTTCCTTGTGGATGAGCCAGAGAGAAGTTGCCAGGGATGGGGGTGTGAGAGAGATTCTGGACACCCCAGGAACCAGCCCACAGACTATACATATCAGCCTTCATTCACTTATTTATTCCTTCATTCATCCAATCATTCATTTACTCAAATCATATAACTCATTCACTCAGTCATTCACTCATATCATTCATTCATACTTTCATTTATTTATCCATTTATTCACTCACTTTCATTCATTTGCTCTCTTTCACTCATTCATTCATGCATTCTTCAATTTGCTTACTCTTTATTCACTCATTTGTTCATTTTTTCATTCACTTATTCCTACATTTATGCTTCACTCATTCATTCACACATGTTCCCATTTGTTCATGGATTCGTTTATTTACTTATTCATTGTCAATCATTCATTCACTCCTTCATTCTTCCATTCATCCACTTGCAACTCATGTGGTCCTTGATTATACTGACCTGTACTCTGGCCCATGTGTAATTGTTAGGAACACTAAGATGGACAGAAACAGTTTTGCCTGGAGAAGGGCTCTCAGATACAGATGGCCCTTCACATGAGGACAGTGTGATTTGTGAAAAAGATCTTGTCCAAGGTCTGGGGGAGCAAAAGCAGCCCTTAAGTGAGGGTGGGGCCAGGAAGAAGTCCCAGTGGAGCTGGTGTTTGAGCTGAGCCTTAAATGATGAATTGAGATTTTCAGGTATCAAGAAGTAAGGACGGTTTGCCAGGCAAAGGTCTTGGTGTCAACACCTGATGGCTGGTGTTGTCAGGGAAGGTCTCCTGGAAAAAGAGAACTTGATTTGGGCCTTGGGTGGATTGGAATAAGAAAGGCATCCTAGGTGGAACAGAGCAGATGAAAGCCCAGAGGGGGGAAGTTCAGGGCACAGACAGAAAACTAGCCTGGCTAGATGGGAAGAGTGTGGGTGGTAGAAGAGAAAATTAAATTGGAAATATGTTTTTTTGGTTGTTGTTTTTGTTTGTTTGTTTTTGAGACAGAGTCTCACTCTGTTGCCCCAGCTGGAGTGCAGTGGTGCAGTCTTGGCTCACTGCAACCTCTCCCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACTGCACCCGGCTAATTTTTGTATTTTAGTAGAGATGAGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCTGCCTCAGCCTCCCAGTGTGCTGGGATTACAGGAGTGAGCCACCGCACCTGGCCTGCAAACATGTTGATAAGGCTTGAATGTCAAGCCACAAGGTGAACTTGATCCTGAGGAGCCTGGGGAGCCGTGGATTGGCAGGCCAGACTCAGAATGGCAAGAGGACTGACAGTCTGCCTTTCTCCCCTCCCCTTCCTCCAGCGTGCCTACCCTGGAGCCTCAGGAGAGGGCCTCAGTCCAGTTTGACATCACCCCCTCCAAAAGTGGCCCAAGGCAGCTGCAGGTGGACCTTGTAAGCCCTCACTTCCCGGACATCAAGGGCTTTGTGATCGTCCATGTGGCCACTGCCAAGTGATGGATCATGAGGGACTGAGAGGGGTGGATTTGGCCCCTGTCCTCCTCCTGCCCATTCTTTGTCTCTTCCACATGGGAGCCAGGAGGCCTCAGTTAATCCTGCCTCAACCTCTGCCCTACTTTGTAAACTTAGGCAAGTTCCTTCTCCTCCTGGGCCTCAGTTTACTCTTCTGTAAAATGAAGTGTTGCACTCAGTAATCCTTAAACTTTTGGACAACCATAGATGATGTAAGAACCGAGGGAGCCTCTCCAACCTTCATCTCTCATCCCCATGGCTGGGAGGTTGACAGACCCGAGCATCAGAGAAACCCTGGCCCACTCAGCTCTGCCATCTTCCACCCTGCCACCTCGCTGTCACCCTGGCTGACCCTTGGACTCTCCTTGCTTTTCAAATGCCCTGGCCACATCAAGAGCCA
|
ATAGGCACAACACCACGCCCTGCTAATTTTGTAATTTTTTTTAGTAGAGACAGGGTTTCAACATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTCACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACGGCACCCGGCCTATAATTATTATTTATTACTGTTATTGTAATAAAGGTTCTTCCAATAATGACCTACTGAACTAAGGGAGCCCATAAAACAAAATCATACTTTAACACATGAATCACCCTACTGGCATTCAGGAGAATCTACGATATGCAAAGCCCTGGGGTAGCAGAGCGCATGAGCCAAGTTGAGCCCTTTAAGGACCTTTTCCATGAGTTAAAAACTCAGATGCCTTCAGAGTCAGAAAGAAAACAGAAATAAAGGAAGCAGTGGGAGTAGAACAATAGGGAATGAGAGGGCCTGGGAGCAAACCAGAAAGAGCACATTGAACCTAAAAGAAAGAATATATAGTAGTCAGAAAAAAAAAAAAAACAAATATGGTCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCAAGGCGAGAGGATCATGAGGTCAAAAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAGAATACAAAAATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTCGCGACAGAGCGAGACTCCGTCTCCAAAAAAAAAAAAAGACTGAGGTTTATGGTGATCCATGCTTACAAGAAAAGAACACCTAGGAAGGATGTTTCTGACTGGTGAGAGGGAGACAGAGATGGCCAGGACCACAGGAGCTCAGAGAGCATGAGAGCACTGGGAGGAGGTGTCAGTGAAGACTTCCCTCAGTTGGTGGGGCTGACCAGGACTGGGCCTTCATGGAGGGGGGCATTTGGAAAAGTTGTAGGGAATTGGCCTCACAGGATTGGAAGATTGAGGCATGCCTTTGGTCTTCCTCTTCTCTGCTCCTAGCACATAGTAGGTGCTCAATAAACAGAGAAGGATGGGATGAATGGATGATGGGCTGAGAGATTTTCATCTTGAATAAGTAGGGAAAGCTTGGAAACATCTCTGGGGGCTCTTGGAGAAATTATCTGGTATTGTGGTAGCTCCCTGACCTAAATTTGACTCCCACCTCATCTTAATTTCTTGGTTTACTTCCTATATGAGTTTGAACAGGAAAATACCCACTCTGGGCCTTAGGTTTCTTCATCTGAGAACCGAGGAAAATAAAGCCTGTCTCAGAATGGTTGCAAGGACCAGAGAGAAAGGAGCTATTAGTTGTGCATTCCCTTCCTTCTTCCCAGTGCCATTGAAGAAAGACATCAAGCCCCAACTCCCACTTCTGCTTTCCCTTCCAGAGAAGAGAATCCCAATTACAATATCTTACTCTAAGTATAAAGAAGACCTGACAGAGGACAAGAAGATCCTGTTGGCTGCCATGTGCCTTGTCACCAAAGGAGAGAAGCTTCTGGTGGAGAAGGACATTACTCTAGAGGACTTCATCACCATCAAGGTGACCTCAGCCTGCATCTACCATGCTGTTCCTAGTGGCACCCACTCCCCAGAGCTGGGGGAGGGCGTCAGAAGCTGGGGGGGTTTGTGCCTTTAACTCCAGCTTTAGCTCTCCAGGGTGGGAGGAGTGGGTTGGACATAAGGGGATGGGTGCAATAGTGGCACTCAGCAATGGGGTATATGGAGGTGGGGGTGGACATGACTAATGATCCATCCTCTAACTCAGCCAGGACCATCGGTTTCCTGGAGGGAGGAGGGGTAGGCGCGATGGCTCATGGGTGTTGTCCCCTTCAGGTTCTGGGCCCAGCCATGGTGGGAGTGGCAGTTACAGTGGAAGTGACAGTAGTCAACCCCCTCATAGAGAGAGTGAAGGACTGTGCGCTGATGGTGGAGGGCAGCGGCCTTCTCCAGGAACAACAGCTCAGCATCGAGTAAGTGCCAGCCTGGGGGGCTGGCAGGGAATGGGGCTCTCTTCCTTGTGGATGAGCCAGAGAGAAGTTGCCAGGGATGGGGGTGTGAGAGAGATTCTGGACACCCCAGGAACCAGCCCACAGACTATACATATCAGCCTTCATTCACTTATTTATTCCTTCATTCATCCAATCATTCATTTACTCAAATCATATAACTCATTCACTCAGTCATTCACTCATATCATTCATTCATACTTTCATTTATTTATCCATTTATTCACTCACTTTCATTCATTTGCTCTCTTTCACTCATTCATTCATGCATTCTTCAATTTGCTTACTCTTTATTCACTCATTTGTTCATTTTTTCATTCACTTATTCCTACATTTATGCTTCACTCATTCATTCACACATGTTCCCATTTGTTCATGGATTCGTTTATTTACTTATTCATTGTCAATCATTCATTCACTCCTTCATTCTTCCATTCATCCACTTGCAACTCATGTGGTCCTTGATTATACTGACCTGTACTCTGGCCCATGTGTAATTGTTAGGAACACTAAGATGGACAGAAACAGTTTTGCCTGGAGAAGGGCTCTCAGATACAGATGGCCCTTCACATGAGGACAGTGTGATTTGTGAAAAAGATCTTGTCCAAGGTCTGGGGGAGCAAAAGCAGCCCTTAAGTGAGGGTGGGGCCAGGAAGAAGTCCCAGTGGAGCTGGTGTTTGAGCTGAGCCTTAAATGATGAATTGAGATTTTCAGGTATCAAGAAGTAAGGACGGTTTGCCAGGCAAAGGTCTTGGTGTCAACACCTGATGGCTGGTGTTGTCAGGGAAGGTCTCCTGGAAAAAGAGAACTTGATTTGGGCCTTGGGTGGATTGGAATAAGAAAGGCATCCTAGGTGGAACAGAGCAGATGAAAGCCCAGAGGGGGGAAGTTCAGGGCACAGACAGAAAACTAGCCTGGCTAGATGGGAAGAGTGTGGGTGGTAGAAGAGAAAATTAAATTGGAAATATGTTTTTTTGGTTGTTGTTTTTGTTTGTTTGTTTTTGAGACAGAGTCTCACTCTGTTGCCCCAGCTGGAGTGCAGTGGTGCAGTCTTGGCTCACTGCAACCTCTCCCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACTGCACCCGGCTAATTTTTGTATTTTAGTAGAGATGAGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCTGCCTCAGCCTCCCAGTGTGCTGGGATTACAGGAGTGAGCCACCGCACCTGGCCTGCAAACATGTTGATAAGGCTTGAATGTCAAGCCACAAGGTGAACTTGATCCTGAGGAGCCTGGGGAGCCGTGGATTGGCAGGCCAGACTCAGAATGGCAAGAGGACTGACAGTCTGCCTTTCTCCCCTCCCCTTCCTCCAGCGTGCCTACCCTGGAGCCTCAGGAGAGGGCCTCAGTCCAGTTTGACATCACCCCCTCCAAAAGTGGCCCAAGGCAGCTGCAGGTGGACCTTGTAAGCCCTCACTTCCCGGACATCAAGGGCTTTGTGATCGTCCATGTGGCCACTGCCAAGTGATGGATCATGAGGGACTGAGAGGGGTGGATTTGGCCCCTGTCCTCCTCCTGCCCATTCTTTGTCTCTTCCACATGGGAGCCAGGAGGCCTCAGTTAATCCTGCCTCAACCTCTGCCCTACTTTGTAAACTTAGGCAAGTTCCTTCTCCTCCTGGGCCTCAGTTTACTCTTCTGTAAAATGAAGTGTTGCACTCAGTAATCCTTAAACTTTTGGACAACCATAGATGATGTAAGAACCGAGGGAGCCTCTCCAACCTTCATCTCTCATCCCCATGGCTGGGAGGTTGACAGACCCGAGCATCAGAGAAACCCTGGCCCACTCAGCTCTGCCATCTTCCACCCTGCCACCTCGCTGTCACCCTGGCTGACCCTTGGACTCTCCTTGCTTTTCAAATGCCCTGGCCACATCAAGAG
|
benign
| 310,737 |
A genetic variant at chromosome 20, position 2660567, affecting gene IDH3B (isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Retinitis_pigmentosa_46']
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GAACCTGTGGGGGAGAATCATCATCATCCATGTGGCCTGGGCTCCATCCTAACAATCCCCATCACCACCCAACAGTCTGTCCCCTAAGGAAGCCGGCCCAAGGACAACCTAGGCTCTACCCAGCAAGGTGACCATGGTCCACTGCTTAGAGGCACAAGGTCTCTTCCCTGGTACACTGCACTGAAGGGTATGGGGAGTGTGGTCCTTGCAAGGTTGGAAGAAATAAAGGGCTCTAGCTCCCTTTAGTCTGCAGGTGACCGATGACAGACTTGATGAAGTCGGTTGTGGTGCTGTAGCCGCCCATGTCTCGAGTCCGCACCTACAGCCACCACCGGCAACAGCCGTGGGGAGGGAGAAAAGAGAGCCCATGAAGGGAGGTAGGGCAATGTGATTGAGGAAATGGAAGCCAAGAATGCGTGACAGCCAGAAAAAAGGCAATGCACAGGAATGGAAGGAGGAGCCAGGATGGGAAGCACATGGACCTGCCACTCCTCTTAAGCCACTATTAGCTGTGCTGCAGCCAGGGCAGGACAGGAGGCTGAGCAGGCAAAGATGATGGGAAACGCAGATCAGAGGCAGGATGTGGCTACCTTCCTTGGAAGAAATAGAGACAAGACCAGGTGGAAGGAAAGAATCACAGCGAAAAGGAGATGGGGCGTGAAGGTGAAGCTGATGCTTCAGCCTGCCTGTATCCCTTGCTGTTCCACCCCCAAGGAGAGCTGCAAGTTCTGCATTCAGATGGCCCATGAAAAGGGCAGTGGATGGAGCAGGAAAGAGGGAACAGCAGATGGGATCTAAGAGGCAAAAGAGATCAAGAGGATGAAACAGCCAAGAGAAGGGAGATGAAGAACAGCCCTGAGAGGGATGCAGGGATGTCAGGGAGCAGATGTTCTGGGGACCTGGGGGGAAAGGAGACCCCCATTCAGGTTCCCCAGAGGGTAGTGCCGAGGTGCTGACACCAGAACTACTCTAAATCCTGAAGCCAGCACTACTCTTCTCAACTCACCTTGCCAACTTTGATCACCTTCTTCACCGCATCTGCGATCATGCTGGAGTGATACTCAAGACTGTGGATATGGACAGGAAGAAACTGTGACTCCCCCAAGACACCTCCCGCTAATTTCCCCACCTGCTCCTCCTCACGACACCCAACCTCTGCCGACAGCCTCCCATGACCTACTTAAGATGCCGCAGCATGTTGGAAGCCGACAGCAGCATGGCCGTGGGATTGGCTATATTCCTGCCCACTGCCTGGGCAAATGGGTGCCGGGCACCCTGTGGAGAGAGGGGCAGGCTAGACACTGGGAGGAGGCAGGAGGGGTATGCAGAGGCTTAGGTTGGAAAAGGACATTATGGGAGGGGGAGCTCAGGCCAGGGTCACTGAAAAGAGGCATGGTGGGCAGCGTGGGGGAAGAACAGGCCAAGATCACTTAGGAAGTGGAGATATTGGGATGGGAGAGGAATGGCGGACTTGAGGTCAGAGGAAGGGCCGAGGGAGAAAGCAGCCTCACCGTCTCAAAGACTGCGTATTCTGCACTATAGCTCTCACCAGGGACCACACCAGCTCCCCCAACCAGGCCAGCAGCCAGATTGTCAATAATGTTCCCATAGAGATTGGGCATCACAAGCACATCAAACTGGTAAGGATTCTGCACCAGCTAGAGGGTGAGATGCAGGCATGAAGTAAATTCCACTCCCCACCCTCCTCCTCCGCCCCATGAGTAGAGATGTGGGGAGGCCTCACCTGCATGCAGCAGTTGTCTATGATCATTGTCTCAAATTTGATTTTGGGGTACAGTTCAGCAACTTCCTCACAGCACTGCAGGAACAACCCATCCCCAAGTTTCCTGTCCATGGGCCAAAGGGGACAGAATCAGCCAAGAAAGTACAGGGGCTACCTTCCCAGGAACCCATCCTACACAAAGCCATGCCCCTCACATGATGTTGGCCTTGTGGACAGCAGTGACCTTGCCCCGCCCCTTCTTGGTGGCATAGTCAAAGGCGAACTTTGCAATCCGCTGAGACTTGGCTCGTGTGACAATCTTCAAACACTCAATCACACCCCTTGCACTCTGGGTAAGAAGAAAGCAGCAGCTAGGTGACACTGGGAAGGGAAACAAGGAGCTCCACCTCTCTCCCATCTTCATCCTTGCCCTCCCCCAGTTTCTGGGGCCTCACCTCATGTTCCAGAGAGCTGTACTCCCCTTCTGTCTGCTCTCGAATGATCACCAGGTCTAGATTGTTGTGCCGAGTCATATACCCAGGAAGTGACTTCACATGGACTACGTTGGCAAATAAGTCCAACTTACGCCTGAGGGTGGGCAGGGCCATCAGCTCTGCTCCTGGTGCCCTGGCACCTCTCAACCATTCACCCCACCCAGACCACCTACCTCAGCCGCATATCATAGGAGGCTAGCTCCCCCTTATACTCCATCGGGGTATGAATCTTTCCTGTGAAAACAAAGTGGGAAAAGGAGTGTCAGCCACAGGCCAAGCCCAAGGGAACTCAGACCAGTGTCTAACCCCCTTAGGAACATCATGTAACCCAGACTCCCATCTCCCATTCCCACATCAGTAAACTTTTAAATTGTCTCTGGGGGCAAGGGACAAAAGAGAATAATGTAGTTAAAGCCAGAAACATTTCATCTATTGCATTTTCTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGAGAGACACAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGACCTGGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGGCAGTGTCTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCCCGGCCTTAATGCTTTATTTTTAGTCAACATATTTAATTTATGTTGAAACTTCAAAACGGAGAACAGATTTTTTCTATTTATCAAAAAAGAGCCTGGGTTTAACAACAAGTTGAAAAACAATGCTAGCAGATCTGTGATCTTTTTATCTGTGCCTTCTCCTTATTTGACATTTTTTAACCCAACACCTACTGATGAATATCAATTATATGTCAGGCAATAAGGATAACAACTAAAACCATACAACTCCTGCCCTTGAGAAGCAAACGGTACACTGGGAAAGACAGAAAATATGAAAGACATGATAAGTACCATGGGAAACTTGCATAGCAACACAAAGAGGAAATCCTCTCCAGTAATATCAGGATACAGCACAGAAGAGCTGGCACTTCAGCCATGCCTTGAGCCCCAGAACCTATGTATGTGACCTTATTTGGGAAAAGAGGCTTTGCAGATGTAATTAAGTTAAGGATCTTGAGAAAAAATCGTCCCATCCAGGGCTAAATATTTGAGGAGAAAAATGATACCGAGACAGAGAGGGAAGAAAACCACAGATATTGGAGTGATGCATCTACAAGTCAAAAAACAGCAAGAGCCACCAGAAGAGGCAAGAAAGGTTTCTCCCCTAAACCTTCAGAGGGAGCAGGGCCCTGCCAACACCTTAATTTCAGACTGATGGCCTCCAGCACTGTGAGAGAATACATTTCTGTTAATGATAAGCCACCAGGTTCATGGTAGTGTGTTACGGCAGCTATGGGAAACTAATACAGTGAATGAGTGAGAAGGACTCTAACAGGTAGCACCAAAGAAAGAACGTTCTGGGTGGAGGGAACAATATAAGTCAGGTAGTACATATTTGGAATCTAACACACAATCTAGTGTGATTGAAGCACAGAACAAGAGTTGTGGAACCAAGGCAGAAAATTAAGGGCCAACTTATAAAGTACTGACTTTCCTATGGTAAGGCTGGGCCTGGAAAATCAGGCTGTTCTTTCCAAGAAGAGATATGGAAGATGAACTATAGGGGCAGAACTAGAAGCCAAAAAAATCAAATGAGGAGATTAAAGCGCGGAAGACAAAAGAAAAGGGGCAGCTAGGCACGGTGGCTCACGCCTATAATCGCAGCAGTTTGGGATGCAGAGGTGGGTGGATCACTTGAGGTCAAGAGT
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GAACCTGTGGGGGAGAATCATCATCATCCATGTGGCCTGGGCTCCATCCTAACAATCCCCATCACCACCCAACAGTCTGTCCCCTAAGGAAGCCGGCCCAAGGACAACCTAGGCTCTACCCAGCAAGGTGACCATGGTCCACTGCTTAGAGGCACAAGGTCTCTTCCCTGGTACACTGCACTGAAGGGTATGGGGAGTGTGGTCCTTGCAAGGTTGGAAGAAATAAAGGGCTCTAGCTCCCTTTAGTCTGCAGGTGACCGATGACAGACTTGATGAAGTCGGTTGTGGTGCTGTAGCCGCCCATGTCTCGAGTCCGCACCTACAGCCACCACCGGCAACAGCCGTGGGGAGGGAGAAAAGAGAGCCCATGAAGGGAGGTAGGGCAATGTGATTGAGGAAATGGAAGCCAAGAATGCGTGACAGCCAGAAAAAAGGCAATGCACAGGAATGGAAGGAGGAGCCAGGATGGGAAGCACATGGACCTGCCACTCCTCTTAAGCCACTATTAGCTGTGCTGCAGCCAGGGCAGGACAGGAGGCTGAGCAGGCAAAGATGATGGGAAACGCAGATCAGAGGCAGGATGTGGCTACCTTCCTTGGAAGAAATAGAGACAAGACCAGGTGGAAGGAAAGAATCACAGCGAAAAGGAGATGGGGCGTGAAGGTGAAGCTGATGCTTCAGCCTGCCTGTATCCCTTGCTGTTCCACCCCCAAGGAGAGCTGCAAGTTCTGCATTCAGATGGCCCATGAAAAGGGCAGTGGATGGAGCAGGAAAGAGGGAACAGCAGATGGGATCTAAGAGGCAAAAGAGATCAAGAGGATGAAACAGCCAAGAGAAGGGAGATGAAGAACAGCCCTGAGAGGGATGCAGGGATGTCAGGGAGCAGATGTTCTGGGGACCTGGGGGGAAAGGAGACCCCCATTCAGGTTCCCCAGAGGGTAGTGCCGAGGTGCTGACACCAGAACTACTCTAAATCCTGAAGCCAGCACTACTCTTCTCAACTCACCTTGCCAACTTTGATCACCTTCTTCACCGCATCTGCGATCATGCTGGAGTGATACTCAAGACTGTGGATATGGACAGGAAGAAACTGTGACTCCCCCAAGACACCTCCCGCTAATTTCCCCACCTGCTCCTCCTCACGACACCCAACCTCTGCCGACAGCCTCCCATGACCTACTTAAGATGCCGCAGCATGTTGGAAGCCGACAGCAGCATGGCCGTGGGATTGGCTATATTCCTGCCCACTGCCTGGGCAAATGGGTGCCGGGCACCCTGTGGAGAGAGGGGCAGGCTAGACACTGGGAGGAGGCAGGAGGGGTATGCAGAGGCTTAGGTTGGAAAAGGACATTATGGGAGGGGGAGCTCAGGCCAGGGTCACTGAAAAGAGGCATGGTGGGCAGCGTGGGGGAAGAACAGGCCAAGATCACTTAGGAAGTGGAGATATTGGGATGGGAGAGGAATGGCGGACTTGAGGTCAGAGGAAGGGCCGAGGGAGAAAGCAGCCTCACCGTCTCAAAGACTGCGTATTCTGCACTATAGCTCTCACCAGGGACCACACCAGCTCCCCCAACCAGGCCAGCAGCCAGATTGTCAATAATGTTCCCATAGAGATTGGGCATCACAAGCACATCAAACTGGTAAGGATTCTGCACCAGCTAGAGGGTGAGATGCAGGCATGAAGTAAATTCCACTCCCCACCCTCCTCCTCCGCCCCATGAGTAGAGATGTGGGGAGGCCTCACCTGCATGCAGCAGTTGTCTATGATCATTGTCTCAAATTTGATTTTGGGGTACAGTTCAGCAACTTCCTCACAGCACTGCAGGAACAACCCATCCCCAAGTTTCCTGTCCATGGGCCAAAGGGGACAGAATCAGCCAAGAAAGTACAGGGGCTACCTTCCCAGGAACCCATCCTACACAAAGCCATGCCCCTCACATGATGTTGGCCTTGTGGACAGCAGTGACCTTGCCCCGCCCCTTCTTGGTGGCATAGTCAAAGGCGAACTTTGCAATCCGCTGAGACTTGGCTCGTGTGACAATCTTCAAACAATCACACCCCTTGCACTCTGGGTAAGAAGAAAGCAGCAGCTAGGTGACACTGGGAAGGGAAACAAGGAGCTCCACCTCTCTCCCATCTTCATCCTTGCCCTCCCCCAGTTTCTGGGGCCTCACCTCATGTTCCAGAGAGCTGTACTCCCCTTCTGTCTGCTCTCGAATGATCACCAGGTCTAGATTGTTGTGCCGAGTCATATACCCAGGAAGTGACTTCACATGGACTACGTTGGCAAATAAGTCCAACTTACGCCTGAGGGTGGGCAGGGCCATCAGCTCTGCTCCTGGTGCCCTGGCACCTCTCAACCATTCACCCCACCCAGACCACCTACCTCAGCCGCATATCATAGGAGGCTAGCTCCCCCTTATACTCCATCGGGGTATGAATCTTTCCTGTGAAAACAAAGTGGGAAAAGGAGTGTCAGCCACAGGCCAAGCCCAAGGGAACTCAGACCAGTGTCTAACCCCCTTAGGAACATCATGTAACCCAGACTCCCATCTCCCATTCCCACATCAGTAAACTTTTAAATTGTCTCTGGGGGCAAGGGACAAAAGAGAATAATGTAGTTAAAGCCAGAAACATTTCATCTATTGCATTTTCTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGAGAGACACAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGACCTGGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGGCAGTGTCTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCCCGGCCTTAATGCTTTATTTTTAGTCAACATATTTAATTTATGTTGAAACTTCAAAACGGAGAACAGATTTTTTCTATTTATCAAAAAAGAGCCTGGGTTTAACAACAAGTTGAAAAACAATGCTAGCAGATCTGTGATCTTTTTATCTGTGCCTTCTCCTTATTTGACATTTTTTAACCCAACACCTACTGATGAATATCAATTATATGTCAGGCAATAAGGATAACAACTAAAACCATACAACTCCTGCCCTTGAGAAGCAAACGGTACACTGGGAAAGACAGAAAATATGAAAGACATGATAAGTACCATGGGAAACTTGCATAGCAACACAAAGAGGAAATCCTCTCCAGTAATATCAGGATACAGCACAGAAGAGCTGGCACTTCAGCCATGCCTTGAGCCCCAGAACCTATGTATGTGACCTTATTTGGGAAAAGAGGCTTTGCAGATGTAATTAAGTTAAGGATCTTGAGAAAAAATCGTCCCATCCAGGGCTAAATATTTGAGGAGAAAAATGATACCGAGACAGAGAGGGAAGAAAACCACAGATATTGGAGTGATGCATCTACAAGTCAAAAAACAGCAAGAGCCACCAGAAGAGGCAAGAAAGGTTTCTCCCCTAAACCTTCAGAGGGAGCAGGGCCCTGCCAACACCTTAATTTCAGACTGATGGCCTCCAGCACTGTGAGAGAATACATTTCTGTTAATGATAAGCCACCAGGTTCATGGTAGTGTGTTACGGCAGCTATGGGAAACTAATACAGTGAATGAGTGAGAAGGACTCTAACAGGTAGCACCAAAGAAAGAACGTTCTGGGTGGAGGGAACAATATAAGTCAGGTAGTACATATTTGGAATCTAACACACAATCTAGTGTGATTGAAGCACAGAACAAGAGTTGTGGAACCAAGGCAGAAAATTAAGGGCCAACTTATAAAGTACTGACTTTCCTATGGTAAGGCTGGGCCTGGAAAATCAGGCTGTTCTTTCCAAGAAGAGATATGGAAGATGAACTATAGGGGCAGAACTAGAAGCCAAAAAAATCAAATGAGGAGATTAAAGCGCGGAAGACAAAAGAAAAGGGGCAGCTAGGCACGGTGGCTCACGCCTATAATCGCAGCAGTTTGGGATGCAGAGGTGGGTGGATCACTTGAGGTCAAGAGTNNNN
|
pathogenic
| 310,791 |
Determine if the mutation at chromosome 20, position 3218578 in gene ITPA (inosine triphosphatase) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_35', 'Hypodontia', 'Inosine_triphosphatase_deficiency']
|
TACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCTGCCACCATGACCAGCTAATTTTTTGTATTTTTTGTAGAGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCACCCATCGCAGCCTCCCAAAGTGCTGGGTTTACAGGCGTGATCCACTGAGCCCGGCTTAATTTTTGTATTTTTAGTAGACACGGAGTTTCGCCATGTTGGCCAGGCTAGTTTCAAACACCTGACCTCAGGTGGTCCCACCTCGGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACCACTCCCAGCCTATTTTATTTTTTTGAGACAGAACCTCACTCCATCGCCCAGGCTAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCATGCTGATCTCGAATTCCTAACCTCAGGTGATCCACCCACCTCGGCCTTCCAAAATGCTGAGATTACAGGCATGAGTTACCGCACCCATCCTTATGTGCTTTTAAAAACACTTTACATTATAGAGCATTTCAAACCTGCATAGTAGAATATCATAATAGGATAATGGGCATAAATATATACAGTTATTATTTGTCAATTAAAAAAAGCATAGTAGAATAATGAACCTCAGTTGCCATCAACCAGCTTCCAGGGTTATCAGCACGAGGCCTATTTTGTGACATCTGTAACCCCCCTTATTTTTCCTCAGTCCAGTATTTTAAGGCAAATCACAGACATCATATCATCAGTAAGTTCTTCAGCTTGTATTTATTTTTATTTTTATTTGTTTTAATTTTTTTTGGAGACAAGGGTCTCCCTGTGTTGCCCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGCCCACCATCAGGGCTCAAGCCATCCTCCCACCTTAGCCTCCTGAGGAGCTGGGACTACAGGTGTAAGCCACCATGCCTAGCTAATTTTTGTGTTTTTTGTAGAGGTGAGGTCTTGCTATGTTGCTGGGGCTGATATCAAACTCCTGAGCTCAAGCAACCCACCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTATGAGCCACCGAGTGCAGCCACTGTATTTCTAAAAGGTGAAAAATTTAAAAACTGTTAAACAAGTAAACTATAATCATTTTAAAATACTACATAATCATTTTTTGGATTTCCTTGGTTGTAGAAAAAGTGCCTATTACAGTTGGTTAGTTTTTGTGGGTTTTTTTTTGTTTTTGTTTTTTCTTTCCTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCCGATCTCGGCTCACTGCAAGCTCCGCCTCCCTTGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGAGCTACAGGCATCAGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATAATCTGCCCGACCCGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGCCACCACGCCCGGCCTACAGTTGGTTAGTTTTGAATCAGGAAATCAAACAAGGTCCACACTGCATTGGCTAGTTTTCTGACTTTAAATAAAGCCTTGTATCGTCAGCCTGTGCCAGAGGGAAGCGAGAATGCCCAGAGACTTCCATTTCAAGCCTAGTCCCACTGCCTTGGGCTCTGCCGCCCCCGCTACCCCAATTGAGACCTAATTTCCCCTTTTAGGGAATTCCTCCCTCCCCACCCTTAGTGGGCGTCTTGGGAGTGGGGGTGGGAGTTGGCCATTAGGGATGCACTGAGCCCTCACTGCCCACCCGCAGGTCTCCACCAGCTCCTGGCCGGGTTCGAGGACAAGTCAGCCTATGCGCTCTGCACGTTTGCACTCAGCACCGGGGACCCAAGCCAGCCCGTGCGCCTGTTCAGGGGCCGGACCTCGGTGCGTACCCACCTTGATGCAGTTCCCGCCGCGCGCCGCCAGGGGGTGCCGCGACCCGAGCCGACCGCCCCGAGTCTGCGGGAGGGTGGTGGGAGGGGCGCCTTGGGGCCAGAGATATCTGTGCCTTGCTGAGAGGCTCCCCTGCGCAGCATAGGTAGAAGTGCTGTGGATCCTAGGAGGGTGGTGGAAAGGGTTCCCTGGGGCCAGAGTAGTTGCCTACGCCTTGCTGAGGGGTGCCCCTGGGCAGGACAATGGAAGTGTTGTCAATTCTGAAACCTGTTTGACCCCTGAGGCTGTTGTTTCAGGGAAACAGTTGGCTAACAGCTCCTGAGGCCTGATAGACCCAGAAGTGCAAACTGAAGGTGACAATTCCCAAAGCTATTTTTTTCTGTTTATTTTATTTATTTATTTATTTTTTGTTAGTGAGAAACCACACTTGGATCAAAGCTACATCTATAGCCCAGACTTCTCTAACCTCAGATTTCCTTATTCAACTGCCAAGGTGCTTGACTATCTCTCAGCCTTTCCAGCTTTTCATGTTTATGTATAATAGAATCTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGTGTCGTCTCGGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCATAGAATGTTAATTCTTGGCCAGGTTTGGTGATTTACACCTGTAATCCTAGCACTTTGCGAGGCCCCAGCGGGAGGCTTTCTTGAGCCCAGGTGTTCAAGATCAGCCTGGACACCATAACAAGACCCCATCTTTGCAAAAAATTTTAAAATGAGGCCGGGCGTGATGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGAACAGCCTGGATAACACAGCAAAACCCCGTCTCAACTAAAAATACAAAAAATATCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAGACTCCGTCTCCAAAAAAAAAAAAAAAAGAGGCTGAGCACAGAGGCTCACACATGTAATCCCAGCACTTTGTGAAGCAAAGGCAGGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGTAACATAGCCAGACCCTGTCTCAAAAATAAATAAATAGCCGGACATGGTGGTGCACACCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTCGGAGTTTGACGGGACAGTGAGCTATGATCGCACTCCTGCACTCCAGCCATGGAGTGACGGAGTGAGACCCAGTCTCAAAAAAAAAAAAAAAAAAACAAACCTTAATTATTTGCCCAAACTTATTCCTTCCGTGAGATGTATTCAACACCCCCTACTGCCTATCACTGCTCACGACAGCCTCCACCTCCCAGGCTCAGGTGATCTCCCACCCTGGAGAGTAACTGGGACTACAGGCGTGCACCACCACACCCGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCCGACCTTAAGTGATCCGCTGGCCTCATTCTCCCAAAGTGCAACCTCCATCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGATTATAGGCGTGAGCAAAAAACATTTGTTGCGTGGTTGAGGTTCAGTAACTGGCCTTAGTCACGCAGCTCCTCACGGCAGAAGCAGAATTTGCCTTTGGGTCTAAATTACTTGGCATCTATGTGACTAATCCCAATCATGTACCACCTCCGTTGTATTTTTTAAAGAGTAAAAAAAAATGTTTTTGAGACAGGGTCTTGCTTTGTCACCCAGGCTGGAGTGTAGTGGCATGACTACCGTTCATA
|
TACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCTGCCACCATGACCAGCTAATTTTTTGTATTTTTTGTAGAGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCACCCATCGCAGCCTCCCAAAGTGCTGGGTTTACAGGCGTGATCCACTGAGCCCGGCTTAATTTTTGTATTTTTAGTAGACACGGAGTTTCGCCATGTTGGCCAGGCTAGTTTCAAACACCTGACCTCAGGTGGTCCCACCTCGGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACCACTCCCAGCCTATTTTATTTTTTTGAGACAGAACCTCACTCCATCGCCCAGGCTAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCATGCTGATCTCGAATTCCTAACCTCAGGTGATCCACCCACCTCGGCCTTCCAAAATGCTGAGATTACAGGCATGAGTTACCGCACCCATCCTTATGTGCTTTTAAAAACACTTTACATTATAGAGCATTTCAAACCTGCATAGTAGAATATCATAATAGGATAATGGGCATAAATATATACAGTTATTATTTGTCAATTAAAAAAAGCATAGTAGAATAATGAACCTCAGTTGCCATCAACCAGCTTCCAGGGTTATCAGCACGAGGCCTATTTTGTGACATCTGTAACCCCCCTTATTTTTCCTCAGTCCAGTATTTTAAGGCAAATCACAGACATCATATCATCAGTAAGTTCTTCAGCTTGTATTTATTTTTATTTTTATTTGTTTTAATTTTTTTTGGAGACAAGGGTCTCCCTGTGTTGCCCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGCCCACCATCAGGGCTCAAGCCATCCTCCCACCTTAGCCTCCTGAGGAGCTGGGACTACAGGTGTAAGCCACCATGCCTAGCTAATTTTTGTGTTTTTTGTAGAGGTGAGGTCTTGCTATGTTGCTGGGGCTGATATCAAACTCCTGAGCTCAAGCAACCCACCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTATGAGCCACCGAGTGCAGCCACTGTATTTCTAAAAGGTGAAAAATTTAAAAACTGTTAAACAAGTAAACTATAATCATTTTAAAATACTACATAATCATTTTTTGGATTTCCTTGGTTGTAGAAAAAGTGCCTATTACAGTTGGTTAGTTTTTGTGGGTTTTTTTTTGTTTTTGTTTTTTCTTTCCTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCCGATCTCGGCTCACTGCAAGCTCCGCCTCCCTTGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGAGCTACAGGCATCAGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATAATCTGCCCGACCCGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGCCACCACGCCCGGCCTACAGTTGGTTAGTTTTGAATCAGGAAATCAAACAAGGTCCACACTGCATTGGCTAGTTTTCTGACTTTAAATAAAGCCTTGTATCGTCAGCCTGTGCCAGAGGGAAGCGAGAATGCCCAGAGACTTCCATTTCAAGCCTAGTCCCACTGCCTTGGGCTCTGCCGCCCCCGCTACCCCAATTGAGACCTAATTTCCCCTTTTAGGGAATTCCTCCCTCCCCACCCTTAGTGGGCGTCTTGGGAGTGGGGGTGGGAGTTGGCCATTAGGGATGCACTGAGCCCTCACTGCCCACCCGCAGGTCTCCACCAGCTCCTGGCCGGGTTCGAGGACAAGTCAGCCTATGCGCTCTGCACGTTTGCACTCAGCACCTCAGCACCGGGGACCCAAGCCAGCCCGTGCGCCTGTTCAGGGGCCGGACCTCGGTGCGTACCCACCTTGATGCAGTTCCCGCCGCGCGCCGCCAGGGGGTGCCGCGACCCGAGCCGACCGCCCCGAGTCTGCGGGAGGGTGGTGGGAGGGGCGCCTTGGGGCCAGAGATATCTGTGCCTTGCTGAGAGGCTCCCCTGCGCAGCATAGGTAGAAGTGCTGTGGATCCTAGGAGGGTGGTGGAAAGGGTTCCCTGGGGCCAGAGTAGTTGCCTACGCCTTGCTGAGGGGTGCCCCTGGGCAGGACAATGGAAGTGTTGTCAATTCTGAAACCTGTTTGACCCCTGAGGCTGTTGTTTCAGGGAAACAGTTGGCTAACAGCTCCTGAGGCCTGATAGACCCAGAAGTGCAAACTGAAGGTGACAATTCCCAAAGCTATTTTTTTCTGTTTATTTTATTTATTTATTTATTTTTTGTTAGTGAGAAACCACACTTGGATCAAAGCTACATCTATAGCCCAGACTTCTCTAACCTCAGATTTCCTTATTCAACTGCCAAGGTGCTTGACTATCTCTCAGCCTTTCCAGCTTTTCATGTTTATGTATAATAGAATCTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGTGTCGTCTCGGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCATAGAATGTTAATTCTTGGCCAGGTTTGGTGATTTACACCTGTAATCCTAGCACTTTGCGAGGCCCCAGCGGGAGGCTTTCTTGAGCCCAGGTGTTCAAGATCAGCCTGGACACCATAACAAGACCCCATCTTTGCAAAAAATTTTAAAATGAGGCCGGGCGTGATGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGAACAGCCTGGATAACACAGCAAAACCCCGTCTCAACTAAAAATACAAAAAATATCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAGACTCCGTCTCCAAAAAAAAAAAAAAAAGAGGCTGAGCACAGAGGCTCACACATGTAATCCCAGCACTTTGTGAAGCAAAGGCAGGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGTAACATAGCCAGACCCTGTCTCAAAAATAAATAAATAGCCGGACATGGTGGTGCACACCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTCGGAGTTTGACGGGACAGTGAGCTATGATCGCACTCCTGCACTCCAGCCATGGAGTGACGGAGTGAGACCCAGTCTCAAAAAAAAAAAAAAAAAAACAAACCTTAATTATTTGCCCAAACTTATTCCTTCCGTGAGATGTATTCAACACCCCCTACTGCCTATCACTGCTCACGACAGCCTCCACCTCCCAGGCTCAGGTGATCTCCCACCCTGGAGAGTAACTGGGACTACAGGCGTGCACCACCACACCCGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCCGACCTTAAGTGATCCGCTGGCCTCATTCTCCCAAAGTGCAACCTCCATCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGATTATAGGCGTGAGCAAAAAACATTTGTTGCGTGGTTGAGGTTCAGTAACTGGCCTTAGTCACGCAGCTCCTCACGGCAGAAGCAGAATTTGCCTTTGGGTCTAAATTACTTGGCATCTATGTGACTAATCCCAATCATGTACCACCTCCGTTGTATTTTTTAAAGAGTAAAAAAAAATGTTTTTGAGACAGGGTCTTGCTTTGTCACCCAGGCTGGAGTGTAGTGGCATGACTAC
|
pathogenic
| 310,862 |
Clinical impact (benign or pathogenic) of the variant at chromosome 20, location 3218622, gene ITPA: what disease(s) if pathogenic?
|
pathogenic; ['Inborn_genetic_diseases', 'Inosine_triphosphatase_deficiency']
|
CTCCCTAGTAGCTGGGATTACAGGCACCTGCCACCATGACCAGCTAATTTTTTGTATTTTTTGTAGAGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCACCCATCGCAGCCTCCCAAAGTGCTGGGTTTACAGGCGTGATCCACTGAGCCCGGCTTAATTTTTGTATTTTTAGTAGACACGGAGTTTCGCCATGTTGGCCAGGCTAGTTTCAAACACCTGACCTCAGGTGGTCCCACCTCGGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACCACTCCCAGCCTATTTTATTTTTTTGAGACAGAACCTCACTCCATCGCCCAGGCTAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCATGCTGATCTCGAATTCCTAACCTCAGGTGATCCACCCACCTCGGCCTTCCAAAATGCTGAGATTACAGGCATGAGTTACCGCACCCATCCTTATGTGCTTTTAAAAACACTTTACATTATAGAGCATTTCAAACCTGCATAGTAGAATATCATAATAGGATAATGGGCATAAATATATACAGTTATTATTTGTCAATTAAAAAAAGCATAGTAGAATAATGAACCTCAGTTGCCATCAACCAGCTTCCAGGGTTATCAGCACGAGGCCTATTTTGTGACATCTGTAACCCCCCTTATTTTTCCTCAGTCCAGTATTTTAAGGCAAATCACAGACATCATATCATCAGTAAGTTCTTCAGCTTGTATTTATTTTTATTTTTATTTGTTTTAATTTTTTTTGGAGACAAGGGTCTCCCTGTGTTGCCCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGCCCACCATCAGGGCTCAAGCCATCCTCCCACCTTAGCCTCCTGAGGAGCTGGGACTACAGGTGTAAGCCACCATGCCTAGCTAATTTTTGTGTTTTTTGTAGAGGTGAGGTCTTGCTATGTTGCTGGGGCTGATATCAAACTCCTGAGCTCAAGCAACCCACCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTATGAGCCACCGAGTGCAGCCACTGTATTTCTAAAAGGTGAAAAATTTAAAAACTGTTAAACAAGTAAACTATAATCATTTTAAAATACTACATAATCATTTTTTGGATTTCCTTGGTTGTAGAAAAAGTGCCTATTACAGTTGGTTAGTTTTTGTGGGTTTTTTTTTGTTTTTGTTTTTTCTTTCCTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCCGATCTCGGCTCACTGCAAGCTCCGCCTCCCTTGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGAGCTACAGGCATCAGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATAATCTGCCCGACCCGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGCCACCACGCCCGGCCTACAGTTGGTTAGTTTTGAATCAGGAAATCAAACAAGGTCCACACTGCATTGGCTAGTTTTCTGACTTTAAATAAAGCCTTGTATCGTCAGCCTGTGCCAGAGGGAAGCGAGAATGCCCAGAGACTTCCATTTCAAGCCTAGTCCCACTGCCTTGGGCTCTGCCGCCCCCGCTACCCCAATTGAGACCTAATTTCCCCTTTTAGGGAATTCCTCCCTCCCCACCCTTAGTGGGCGTCTTGGGAGTGGGGGTGGGAGTTGGCCATTAGGGATGCACTGAGCCCTCACTGCCCACCCGCAGGTCTCCACCAGCTCCTGGCCGGGTTCGAGGACAAGTCAGCCTATGCGCTCTGCACGTTTGCACTCAGCACCGGGGACCCAAGCCAGCCCGTGCGCCTGTTCAGGGGCCGGACCTCGGTGCGTACCCACCTTGATGCAGTTCCCGCCGCGCGCCGCCAGGGGGTGCCGCGACCCGAGCCGACCGCCCCGAGTCTGCGGGAGGGTGGTGGGAGGGGCGCCTTGGGGCCAGAGATATCTGTGCCTTGCTGAGAGGCTCCCCTGCGCAGCATAGGTAGAAGTGCTGTGGATCCTAGGAGGGTGGTGGAAAGGGTTCCCTGGGGCCAGAGTAGTTGCCTACGCCTTGCTGAGGGGTGCCCCTGGGCAGGACAATGGAAGTGTTGTCAATTCTGAAACCTGTTTGACCCCTGAGGCTGTTGTTTCAGGGAAACAGTTGGCTAACAGCTCCTGAGGCCTGATAGACCCAGAAGTGCAAACTGAAGGTGACAATTCCCAAAGCTATTTTTTTCTGTTTATTTTATTTATTTATTTATTTTTTGTTAGTGAGAAACCACACTTGGATCAAAGCTACATCTATAGCCCAGACTTCTCTAACCTCAGATTTCCTTATTCAACTGCCAAGGTGCTTGACTATCTCTCAGCCTTTCCAGCTTTTCATGTTTATGTATAATAGAATCTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGTGTCGTCTCGGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCATAGAATGTTAATTCTTGGCCAGGTTTGGTGATTTACACCTGTAATCCTAGCACTTTGCGAGGCCCCAGCGGGAGGCTTTCTTGAGCCCAGGTGTTCAAGATCAGCCTGGACACCATAACAAGACCCCATCTTTGCAAAAAATTTTAAAATGAGGCCGGGCGTGATGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGAACAGCCTGGATAACACAGCAAAACCCCGTCTCAACTAAAAATACAAAAAATATCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAGACTCCGTCTCCAAAAAAAAAAAAAAAAGAGGCTGAGCACAGAGGCTCACACATGTAATCCCAGCACTTTGTGAAGCAAAGGCAGGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGTAACATAGCCAGACCCTGTCTCAAAAATAAATAAATAGCCGGACATGGTGGTGCACACCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTCGGAGTTTGACGGGACAGTGAGCTATGATCGCACTCCTGCACTCCAGCCATGGAGTGACGGAGTGAGACCCAGTCTCAAAAAAAAAAAAAAAAAAACAAACCTTAATTATTTGCCCAAACTTATTCCTTCCGTGAGATGTATTCAACACCCCCTACTGCCTATCACTGCTCACGACAGCCTCCACCTCCCAGGCTCAGGTGATCTCCCACCCTGGAGAGTAACTGGGACTACAGGCGTGCACCACCACACCCGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCCGACCTTAAGTGATCCGCTGGCCTCATTCTCCCAAAGTGCAACCTCCATCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGATTATAGGCGTGAGCAAAAAACATTTGTTGCGTGGTTGAGGTTCAGTAACTGGCCTTAGTCACGCAGCTCCTCACGGCAGAAGCAGAATTTGCCTTTGGGTCTAAATTACTTGGCATCTATGTGACTAATCCCAATCATGTACCACCTCCGTTGTATTTTTTAAAGAGTAAAAAAAAATGTTTTTGAGACAGGGTCTTGCTTTGTCACCCAGGCTGGAGTGTAGTGGCATGACTACCGTTCATAGCAGCCTTGATCTCTCAGGCTCAAGTCATCCTCCCACCTCAGCC
|
CTCCCTAGTAGCTGGGATTACAGGCACCTGCCACCATGACCAGCTAATTTTTTGTATTTTTTGTAGAGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCACCCATCGCAGCCTCCCAAAGTGCTGGGTTTACAGGCGTGATCCACTGAGCCCGGCTTAATTTTTGTATTTTTAGTAGACACGGAGTTTCGCCATGTTGGCCAGGCTAGTTTCAAACACCTGACCTCAGGTGGTCCCACCTCGGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACCACTCCCAGCCTATTTTATTTTTTTGAGACAGAACCTCACTCCATCGCCCAGGCTAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCATGCTGATCTCGAATTCCTAACCTCAGGTGATCCACCCACCTCGGCCTTCCAAAATGCTGAGATTACAGGCATGAGTTACCGCACCCATCCTTATGTGCTTTTAAAAACACTTTACATTATAGAGCATTTCAAACCTGCATAGTAGAATATCATAATAGGATAATGGGCATAAATATATACAGTTATTATTTGTCAATTAAAAAAAGCATAGTAGAATAATGAACCTCAGTTGCCATCAACCAGCTTCCAGGGTTATCAGCACGAGGCCTATTTTGTGACATCTGTAACCCCCCTTATTTTTCCTCAGTCCAGTATTTTAAGGCAAATCACAGACATCATATCATCAGTAAGTTCTTCAGCTTGTATTTATTTTTATTTTTATTTGTTTTAATTTTTTTTGGAGACAAGGGTCTCCCTGTGTTGCCCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGCCCACCATCAGGGCTCAAGCCATCCTCCCACCTTAGCCTCCTGAGGAGCTGGGACTACAGGTGTAAGCCACCATGCCTAGCTAATTTTTGTGTTTTTTGTAGAGGTGAGGTCTTGCTATGTTGCTGGGGCTGATATCAAACTCCTGAGCTCAAGCAACCCACCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTATGAGCCACCGAGTGCAGCCACTGTATTTCTAAAAGGTGAAAAATTTAAAAACTGTTAAACAAGTAAACTATAATCATTTTAAAATACTACATAATCATTTTTTGGATTTCCTTGGTTGTAGAAAAAGTGCCTATTACAGTTGGTTAGTTTTTGTGGGTTTTTTTTTGTTTTTGTTTTTTCTTTCCTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCCGATCTCGGCTCACTGCAAGCTCCGCCTCCCTTGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGAGCTACAGGCATCAGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATAATCTGCCCGACCCGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGCCACCACGCCCGGCCTACAGTTGGTTAGTTTTGAATCAGGAAATCAAACAAGGTCCACACTGCATTGGCTAGTTTTCTGACTTTAAATAAAGCCTTGTATCGTCAGCCTGTGCCAGAGGGAAGCGAGAATGCCCAGAGACTTCCATTTCAAGCCTAGTCCCACTGCCTTGGGCTCTGCCGCCCCCGCTACCCCAATTGAGACCTAATTTCCCCTTTTAGGGAATTCCTCCCTCCCCACCCTTAGTGGGCGTCTTGGGAGTGGGGGTGGGAGTTGGCCATTAGGGATGCACTGAGCCCTCACTGCCCACCCGCAGGTCTCCACCAGCTCCTGGCCGGGTTCGAGGACAAGTCAGCCTATGCGCTCTGCACGTTTGCACTCAGCACCGGGGACCCAAGCCAGCCCGTGCGCCTGTTCAGGGGCGGACCTCGGTGCGTACCCACCTTGATGCAGTTCCCGCCGCGCGCCGCCAGGGGGTGCCGCGACCCGAGCCGACCGCCCCGAGTCTGCGGGAGGGTGGTGGGAGGGGCGCCTTGGGGCCAGAGATATCTGTGCCTTGCTGAGAGGCTCCCCTGCGCAGCATAGGTAGAAGTGCTGTGGATCCTAGGAGGGTGGTGGAAAGGGTTCCCTGGGGCCAGAGTAGTTGCCTACGCCTTGCTGAGGGGTGCCCCTGGGCAGGACAATGGAAGTGTTGTCAATTCTGAAACCTGTTTGACCCCTGAGGCTGTTGTTTCAGGGAAACAGTTGGCTAACAGCTCCTGAGGCCTGATAGACCCAGAAGTGCAAACTGAAGGTGACAATTCCCAAAGCTATTTTTTTCTGTTTATTTTATTTATTTATTTATTTTTTGTTAGTGAGAAACCACACTTGGATCAAAGCTACATCTATAGCCCAGACTTCTCTAACCTCAGATTTCCTTATTCAACTGCCAAGGTGCTTGACTATCTCTCAGCCTTTCCAGCTTTTCATGTTTATGTATAATAGAATCTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGTGTCGTCTCGGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCATAGAATGTTAATTCTTGGCCAGGTTTGGTGATTTACACCTGTAATCCTAGCACTTTGCGAGGCCCCAGCGGGAGGCTTTCTTGAGCCCAGGTGTTCAAGATCAGCCTGGACACCATAACAAGACCCCATCTTTGCAAAAAATTTTAAAATGAGGCCGGGCGTGATGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGAACAGCCTGGATAACACAGCAAAACCCCGTCTCAACTAAAAATACAAAAAATATCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAGACTCCGTCTCCAAAAAAAAAAAAAAAAGAGGCTGAGCACAGAGGCTCACACATGTAATCCCAGCACTTTGTGAAGCAAAGGCAGGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGTAACATAGCCAGACCCTGTCTCAAAAATAAATAAATAGCCGGACATGGTGGTGCACACCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTCGGAGTTTGACGGGACAGTGAGCTATGATCGCACTCCTGCACTCCAGCCATGGAGTGACGGAGTGAGACCCAGTCTCAAAAAAAAAAAAAAAAAAACAAACCTTAATTATTTGCCCAAACTTATTCCTTCCGTGAGATGTATTCAACACCCCCTACTGCCTATCACTGCTCACGACAGCCTCCACCTCCCAGGCTCAGGTGATCTCCCACCCTGGAGAGTAACTGGGACTACAGGCGTGCACCACCACACCCGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCCGACCTTAAGTGATCCGCTGGCCTCATTCTCCCAAAGTGCAACCTCCATCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGATTATAGGCGTGAGCAAAAAACATTTGTTGCGTGGTTGAGGTTCAGTAACTGGCCTTAGTCACGCAGCTCCTCACGGCAGAAGCAGAATTTGCCTTTGGGTCTAAATTACTTGGCATCTATGTGACTAATCCCAATCATGTACCACCTCCGTTGTATTTTTTAAAGAGTAAAAAAAAATGTTTTTGAGACAGGGTCTTGCTTTGTCACCCAGGCTGGAGTGTAGTGGCATGACTACCGTTCATAGCAGCCTTGATCTCTCAGGCTCAAGTCATCCTCCCACCTCAGCCN
|
pathogenic
| 310,864 |
Clinical classification of chromosome 20, position 3218631, gene ITPA: benign or pathogenic? Disease(s) if pathogenic?
|
pathogenic; ['Developmental_and_epileptic_encephalopathy,_35', 'Inosine_triphosphatase_deficiency']
|
AGCTGGGATTACAGGCACCTGCCACCATGACCAGCTAATTTTTTGTATTTTTTGTAGAGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCACCCATCGCAGCCTCCCAAAGTGCTGGGTTTACAGGCGTGATCCACTGAGCCCGGCTTAATTTTTGTATTTTTAGTAGACACGGAGTTTCGCCATGTTGGCCAGGCTAGTTTCAAACACCTGACCTCAGGTGGTCCCACCTCGGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACCACTCCCAGCCTATTTTATTTTTTTGAGACAGAACCTCACTCCATCGCCCAGGCTAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCATGCTGATCTCGAATTCCTAACCTCAGGTGATCCACCCACCTCGGCCTTCCAAAATGCTGAGATTACAGGCATGAGTTACCGCACCCATCCTTATGTGCTTTTAAAAACACTTTACATTATAGAGCATTTCAAACCTGCATAGTAGAATATCATAATAGGATAATGGGCATAAATATATACAGTTATTATTTGTCAATTAAAAAAAGCATAGTAGAATAATGAACCTCAGTTGCCATCAACCAGCTTCCAGGGTTATCAGCACGAGGCCTATTTTGTGACATCTGTAACCCCCCTTATTTTTCCTCAGTCCAGTATTTTAAGGCAAATCACAGACATCATATCATCAGTAAGTTCTTCAGCTTGTATTTATTTTTATTTTTATTTGTTTTAATTTTTTTTGGAGACAAGGGTCTCCCTGTGTTGCCCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGCCCACCATCAGGGCTCAAGCCATCCTCCCACCTTAGCCTCCTGAGGAGCTGGGACTACAGGTGTAAGCCACCATGCCTAGCTAATTTTTGTGTTTTTTGTAGAGGTGAGGTCTTGCTATGTTGCTGGGGCTGATATCAAACTCCTGAGCTCAAGCAACCCACCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTATGAGCCACCGAGTGCAGCCACTGTATTTCTAAAAGGTGAAAAATTTAAAAACTGTTAAACAAGTAAACTATAATCATTTTAAAATACTACATAATCATTTTTTGGATTTCCTTGGTTGTAGAAAAAGTGCCTATTACAGTTGGTTAGTTTTTGTGGGTTTTTTTTTGTTTTTGTTTTTTCTTTCCTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCCGATCTCGGCTCACTGCAAGCTCCGCCTCCCTTGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGAGCTACAGGCATCAGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATAATCTGCCCGACCCGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGCCACCACGCCCGGCCTACAGTTGGTTAGTTTTGAATCAGGAAATCAAACAAGGTCCACACTGCATTGGCTAGTTTTCTGACTTTAAATAAAGCCTTGTATCGTCAGCCTGTGCCAGAGGGAAGCGAGAATGCCCAGAGACTTCCATTTCAAGCCTAGTCCCACTGCCTTGGGCTCTGCCGCCCCCGCTACCCCAATTGAGACCTAATTTCCCCTTTTAGGGAATTCCTCCCTCCCCACCCTTAGTGGGCGTCTTGGGAGTGGGGGTGGGAGTTGGCCATTAGGGATGCACTGAGCCCTCACTGCCCACCCGCAGGTCTCCACCAGCTCCTGGCCGGGTTCGAGGACAAGTCAGCCTATGCGCTCTGCACGTTTGCACTCAGCACCGGGGACCCAAGCCAGCCCGTGCGCCTGTTCAGGGGCCGGACCTCGGTGCGTACCCACCTTGATGCAGTTCCCGCCGCGCGCCGCCAGGGGGTGCCGCGACCCGAGCCGACCGCCCCGAGTCTGCGGGAGGGTGGTGGGAGGGGCGCCTTGGGGCCAGAGATATCTGTGCCTTGCTGAGAGGCTCCCCTGCGCAGCATAGGTAGAAGTGCTGTGGATCCTAGGAGGGTGGTGGAAAGGGTTCCCTGGGGCCAGAGTAGTTGCCTACGCCTTGCTGAGGGGTGCCCCTGGGCAGGACAATGGAAGTGTTGTCAATTCTGAAACCTGTTTGACCCCTGAGGCTGTTGTTTCAGGGAAACAGTTGGCTAACAGCTCCTGAGGCCTGATAGACCCAGAAGTGCAAACTGAAGGTGACAATTCCCAAAGCTATTTTTTTCTGTTTATTTTATTTATTTATTTATTTTTTGTTAGTGAGAAACCACACTTGGATCAAAGCTACATCTATAGCCCAGACTTCTCTAACCTCAGATTTCCTTATTCAACTGCCAAGGTGCTTGACTATCTCTCAGCCTTTCCAGCTTTTCATGTTTATGTATAATAGAATCTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGTGTCGTCTCGGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCATAGAATGTTAATTCTTGGCCAGGTTTGGTGATTTACACCTGTAATCCTAGCACTTTGCGAGGCCCCAGCGGGAGGCTTTCTTGAGCCCAGGTGTTCAAGATCAGCCTGGACACCATAACAAGACCCCATCTTTGCAAAAAATTTTAAAATGAGGCCGGGCGTGATGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGAACAGCCTGGATAACACAGCAAAACCCCGTCTCAACTAAAAATACAAAAAATATCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAGACTCCGTCTCCAAAAAAAAAAAAAAAAGAGGCTGAGCACAGAGGCTCACACATGTAATCCCAGCACTTTGTGAAGCAAAGGCAGGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGTAACATAGCCAGACCCTGTCTCAAAAATAAATAAATAGCCGGACATGGTGGTGCACACCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTCGGAGTTTGACGGGACAGTGAGCTATGATCGCACTCCTGCACTCCAGCCATGGAGTGACGGAGTGAGACCCAGTCTCAAAAAAAAAAAAAAAAAAACAAACCTTAATTATTTGCCCAAACTTATTCCTTCCGTGAGATGTATTCAACACCCCCTACTGCCTATCACTGCTCACGACAGCCTCCACCTCCCAGGCTCAGGTGATCTCCCACCCTGGAGAGTAACTGGGACTACAGGCGTGCACCACCACACCCGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCCGACCTTAAGTGATCCGCTGGCCTCATTCTCCCAAAGTGCAACCTCCATCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGATTATAGGCGTGAGCAAAAAACATTTGTTGCGTGGTTGAGGTTCAGTAACTGGCCTTAGTCACGCAGCTCCTCACGGCAGAAGCAGAATTTGCCTTTGGGTCTAAATTACTTGGCATCTATGTGACTAATCCCAATCATGTACCACCTCCGTTGTATTTTTTAAAGAGTAAAAAAAAATGTTTTTGAGACAGGGTCTTGCTTTGTCACCCAGGCTGGAGTGTAGTGGCATGACTACCGTTCATAGCAGCCTTGATCTCTCAGGCTCAAGTCATCCTCCCACCTCAGCCTTCCGAGTA
|
AGCTGGGATTACAGGCACCTGCCACCATGACCAGCTAATTTTTTGTATTTTTTGTAGAGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCACCCATCGCAGCCTCCCAAAGTGCTGGGTTTACAGGCGTGATCCACTGAGCCCGGCTTAATTTTTGTATTTTTAGTAGACACGGAGTTTCGCCATGTTGGCCAGGCTAGTTTCAAACACCTGACCTCAGGTGGTCCCACCTCGGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACCACTCCCAGCCTATTTTATTTTTTTGAGACAGAACCTCACTCCATCGCCCAGGCTAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCATGCTGATCTCGAATTCCTAACCTCAGGTGATCCACCCACCTCGGCCTTCCAAAATGCTGAGATTACAGGCATGAGTTACCGCACCCATCCTTATGTGCTTTTAAAAACACTTTACATTATAGAGCATTTCAAACCTGCATAGTAGAATATCATAATAGGATAATGGGCATAAATATATACAGTTATTATTTGTCAATTAAAAAAAGCATAGTAGAATAATGAACCTCAGTTGCCATCAACCAGCTTCCAGGGTTATCAGCACGAGGCCTATTTTGTGACATCTGTAACCCCCCTTATTTTTCCTCAGTCCAGTATTTTAAGGCAAATCACAGACATCATATCATCAGTAAGTTCTTCAGCTTGTATTTATTTTTATTTTTATTTGTTTTAATTTTTTTTGGAGACAAGGGTCTCCCTGTGTTGCCCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGCCCACCATCAGGGCTCAAGCCATCCTCCCACCTTAGCCTCCTGAGGAGCTGGGACTACAGGTGTAAGCCACCATGCCTAGCTAATTTTTGTGTTTTTTGTAGAGGTGAGGTCTTGCTATGTTGCTGGGGCTGATATCAAACTCCTGAGCTCAAGCAACCCACCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTATGAGCCACCGAGTGCAGCCACTGTATTTCTAAAAGGTGAAAAATTTAAAAACTGTTAAACAAGTAAACTATAATCATTTTAAAATACTACATAATCATTTTTTGGATTTCCTTGGTTGTAGAAAAAGTGCCTATTACAGTTGGTTAGTTTTTGTGGGTTTTTTTTTGTTTTTGTTTTTTCTTTCCTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCCGATCTCGGCTCACTGCAAGCTCCGCCTCCCTTGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGAGCTACAGGCATCAGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATAATCTGCCCGACCCGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGCCACCACGCCCGGCCTACAGTTGGTTAGTTTTGAATCAGGAAATCAAACAAGGTCCACACTGCATTGGCTAGTTTTCTGACTTTAAATAAAGCCTTGTATCGTCAGCCTGTGCCAGAGGGAAGCGAGAATGCCCAGAGACTTCCATTTCAAGCCTAGTCCCACTGCCTTGGGCTCTGCCGCCCCCGCTACCCCAATTGAGACCTAATTTCCCCTTTTAGGGAATTCCTCCCTCCCCACCCTTAGTGGGCGTCTTGGGAGTGGGGGTGGGAGTTGGCCATTAGGGATGCACTGAGCCCTCACTGCCCACCCGCAGGTCTCCACCAGCTCCTGGCCGGGTTCGAGGACAAGTCAGCCTATGCGCTCTGCACGTTTGCACTCAGCACCGGGGACCCAAGCCAGCCCGTGCGCCTGTTCAGGGGCCGGACCTCGTGCGTACCCACCTTGATGCAGTTCCCGCCGCGCGCCGCCAGGGGGTGCCGCGACCCGAGCCGACCGCCCCGAGTCTGCGGGAGGGTGGTGGGAGGGGCGCCTTGGGGCCAGAGATATCTGTGCCTTGCTGAGAGGCTCCCCTGCGCAGCATAGGTAGAAGTGCTGTGGATCCTAGGAGGGTGGTGGAAAGGGTTCCCTGGGGCCAGAGTAGTTGCCTACGCCTTGCTGAGGGGTGCCCCTGGGCAGGACAATGGAAGTGTTGTCAATTCTGAAACCTGTTTGACCCCTGAGGCTGTTGTTTCAGGGAAACAGTTGGCTAACAGCTCCTGAGGCCTGATAGACCCAGAAGTGCAAACTGAAGGTGACAATTCCCAAAGCTATTTTTTTCTGTTTATTTTATTTATTTATTTATTTTTTGTTAGTGAGAAACCACACTTGGATCAAAGCTACATCTATAGCCCAGACTTCTCTAACCTCAGATTTCCTTATTCAACTGCCAAGGTGCTTGACTATCTCTCAGCCTTTCCAGCTTTTCATGTTTATGTATAATAGAATCTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGTGTCGTCTCGGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCATAGAATGTTAATTCTTGGCCAGGTTTGGTGATTTACACCTGTAATCCTAGCACTTTGCGAGGCCCCAGCGGGAGGCTTTCTTGAGCCCAGGTGTTCAAGATCAGCCTGGACACCATAACAAGACCCCATCTTTGCAAAAAATTTTAAAATGAGGCCGGGCGTGATGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGAACAGCCTGGATAACACAGCAAAACCCCGTCTCAACTAAAAATACAAAAAATATCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAGACTCCGTCTCCAAAAAAAAAAAAAAAAGAGGCTGAGCACAGAGGCTCACACATGTAATCCCAGCACTTTGTGAAGCAAAGGCAGGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGTAACATAGCCAGACCCTGTCTCAAAAATAAATAAATAGCCGGACATGGTGGTGCACACCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTCGGAGTTTGACGGGACAGTGAGCTATGATCGCACTCCTGCACTCCAGCCATGGAGTGACGGAGTGAGACCCAGTCTCAAAAAAAAAAAAAAAAAAACAAACCTTAATTATTTGCCCAAACTTATTCCTTCCGTGAGATGTATTCAACACCCCCTACTGCCTATCACTGCTCACGACAGCCTCCACCTCCCAGGCTCAGGTGATCTCCCACCCTGGAGAGTAACTGGGACTACAGGCGTGCACCACCACACCCGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCCGACCTTAAGTGATCCGCTGGCCTCATTCTCCCAAAGTGCAACCTCCATCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGATTATAGGCGTGAGCAAAAAACATTTGTTGCGTGGTTGAGGTTCAGTAACTGGCCTTAGTCACGCAGCTCCTCACGGCAGAAGCAGAATTTGCCTTTGGGTCTAAATTACTTGGCATCTATGTGACTAATCCCAATCATGTACCACCTCCGTTGTATTTTTTAAAGAGTAAAAAAAAATGTTTTTGAGACAGGGTCTTGCTTTGTCACCCAGGCTGGAGTGTAGTGGCATGACTACCGTTCATAGCAGCCTTGATCTCTCAGGCTCAAGTCATCCTCCCACCTCAGCCTTCCGAGTAN
|
pathogenic
| 310,865 |
Mutation found at chromosome 20 position 3228592, gene SLC4A11 (solute carrier family 4 member 11): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
|
pathogenic; ['Congenital_hereditary_endothelial_dystrophy_of_cornea', 'Corneal_dystrophy,_Fuchs_endothelial,_4', 'Corneal_dystrophy-perceptive_deafness_syndrome']
|
GGGGTCTGAGCACCTCTCGCTACTCCTGTTACGGTTGGGCCTCCTTCTTCCCCTGTTCACGGCCTCTGCCTCTTCTGTTGGGGCTGCTGTCCTTTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGAC
|
GGGGTCTGAGCACCTCTCGCTACTCCTGTTACGGTTGGGCCTCCTTCTTCCCCTGTTCACGGCCTCTGCCTCTTCTGTTGGGGCTGCTGTCCTTTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACNN
|
pathogenic
| 310,889 |
Clinically, how would you classify the variant at chromosome 20, position 3228698, gene SLC4A11 (solute carrier family 4 member 11): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Congenital_hereditary_endothelial_dystrophy_of_cornea', 'Corneal_dystrophy,_Fuchs_endothelial,_4', 'Corneal_dystrophy-perceptive_deafness_syndrome']
|
GGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGC
|
GGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCNNNNNNNNNNNNNNNNNNNNN
|
pathogenic
| 310,893 |
Is the genetic change at chromosome 20, position 3228837, within gene SLC4A11 (solute carrier family 4 member 11) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Congenital_hereditary_endothelial_dystrophy_of_cornea', 'Corneal_dystrophy,_Fuchs_endothelial,_4', 'Corneal_dystrophy-perceptive_deafness_syndrome']
|
TGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAG
|
TGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCG
|
pathogenic
| 310,896 |
Located at chromosome 20 position 3228889, the variant affecting gene SLC4A11 (solute carrier family 4 member 11)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Congenital_hereditary_endothelial_dystrophy_of_cornea', 'Corneal_dystrophy,_Fuchs_endothelial,_4', 'Corneal_dystrophy-perceptive_deafness_syndrome']
|
GCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGAT
|
GCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATN
|
pathogenic
| 310,899 |
Is the genetic variant on chromosome 20, position 3228937, gene SLC4A11 (solute carrier family 4 member 11), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
pathogenic; ['SLC4A11-related_disorder']
|
CACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGG
|
CACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGNNNN
|
pathogenic
| 310,901 |
A mutation at chromosome position 3231075 on chromosome 20 in gene SLC4A11 (solute carrier family 4 member 11): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
|
benign
|
ACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGCAGGAGGCAGGCGAAGTAGAGGAACAGGGTGGTGGTGATGTATTTGCCCACAGCCTTGTTTTTCCCAATAATGCCTAGGAATGGGGGATGGGAGAGAGGGTTTGCTGGGGATGCAGGACAGGCACACGTGTGGGCCCAAGGCCTGGAAAGCAGAGGCCACGTACCATCAGTGAAGTCCAAGGGGTACAAGGGGAACCTGCGTGCGATGTCCTCCCGGATGCCCTTCCCAAAAGGGACAAAGTCCTTGCACTTTGGGGGCTGGAGGAGAGGACAGAGCGCCTGTTAGCCCTGTCCGGCCCATGCCCCCGCCGACCCTGCCGGCCCCCGCCGGCCTCTACCCTGTACCTCTGGGTGTCTGTGGGCAGGGAGGGAGACTGTGCTGCGTTCCTTCGTTCTCGGCGCCACTGGACCGTGGCTCACCATGGTGAGCAGCTGTCTCTGATGCACCAAGGCCTCCTTGAATTCCTCCTCTGTGCGGGTCTCCAGGAGCTTCTGGCGGAAGGCGATATCCGAGAACATGGTGGCAAACGTGCGCGCCACCTCCATCGCAGTCTTAGTGCTTTTCTAGGGGTGGAGGATGGGAGTCACCCCTAGAAACAGAGGAGGCCCTGCCCGGGCCGAGCAGGTGAAGGTGCTCTCCCCATGAACTGGCAGCAGGTTTTTTGTCTGTTTGTTTTTTGTGTTTTTTTGAGACAGGGTCTCACTGTCACCCAGGCTGAGTGCAGTGGCACACTCACGGCTTATCGTAGCCTCGACCTCCCGGGCTCAAGTGATTCTCCCACATCAGTCCCCTGAGTAGCTGGGACCACAGGCACGCACCACCATGCCAGGCAATTTTTAATTTTTAACTTTTTGTAGAGACGAGGTCTCACTATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATC
|
ACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGCAGGAGGCAGGCGAAGTAGAGGAACAGGGTGGTGGTGATGTATTTGCCCACAGCCTTGTTTTTCCCAATAATGCCTAGGAATGGGGGATGGGAGAGGGTTTGCTGGGGATGCAGGACAGGCACACGTGTGGGCCCAAGGCCTGGAAAGCAGAGGCCACGTACCATCAGTGAAGTCCAAGGGGTACAAGGGGAACCTGCGTGCGATGTCCTCCCGGATGCCCTTCCCAAAAGGGACAAAGTCCTTGCACTTTGGGGGCTGGAGGAGAGGACAGAGCGCCTGTTAGCCCTGTCCGGCCCATGCCCCCGCCGACCCTGCCGGCCCCCGCCGGCCTCTACCCTGTACCTCTGGGTGTCTGTGGGCAGGGAGGGAGACTGTGCTGCGTTCCTTCGTTCTCGGCGCCACTGGACCGTGGCTCACCATGGTGAGCAGCTGTCTCTGATGCACCAAGGCCTCCTTGAATTCCTCCTCTGTGCGGGTCTCCAGGAGCTTCTGGCGGAAGGCGATATCCGAGAACATGGTGGCAAACGTGCGCGCCACCTCCATCGCAGTCTTAGTGCTTTTCTAGGGGTGGAGGATGGGAGTCACCCCTAGAAACAGAGGAGGCCCTGCCCGGGCCGAGCAGGTGAAGGTGCTCTCCCCATGAACTGGCAGCAGGTTTTTTGTCTGTTTGTTTTTTGTGTTTTTTTGAGACAGGGTCTCACTGTCACCCAGGCTGAGTGCAGTGGCACACTCACGGCTTATCGTAGCCTCGACCTCCCGGGCTCAAGTGATTCTCCCACATCAGTCCCCTGAGTAGCTGGGACCACAGGCACGCACCACCATGCCAGGCAATTTTTAATTTTTAACTTTTTGTAGAGACGAGGTCTCACTATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCNN
|
benign
| 310,921 |
Does the genetic variant at chromosome 20, position 3233950, impacting gene SLC4A11 (solute carrier family 4 member 11), appear benign or pathogenic? If pathogenic, name the associated disease(s).
|
pathogenic; ['Corneal_dystrophy-perceptive_deafness_syndrome']
|
TCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGAATTCTCCCCCCAGTTCTGTGGGCGAACCAGGCGGCTGATGCACACGTGCCGCTTCTGTAGGGCCTTCATGGTACAGCTGGCAGGGGCGGGGAGGACACAGTGCACAGTTGCACCCCAGGGAGCTGGGGCTCCCCGACCCAGAACCCCCTCGACCTTGACCCCTGGCGACCTCTGCTAGGGAGGGAAAAGAAGAGCAAATGGGACGTTCCTTGGCAGTGCTCCAGCCCTCTTCTCCCAAGTTGGTTGGGCCGCCAGAGCCCCAGGACTCACAGGTGGGCTGGCCTCTGCAGGGCACAGGGGACATGGGACACCCAGTTCCACTGCGACAAGAAGGGGGGCCAAGTGGCCTGGCAACTCACATGATGCAGAGCCACGACTGCTGGTACCGCACCCCTGTCACTGTGGCGGTGACCCCTTGGATGGTATCTGACAGCAGGTGGACTGAGGAAAGAGTGAGGGGGAGGGTGGTGGGTCAACAGCCCCTCCCAACGCCCCCGCCCGGGCCGGGAGACCGGCCTCACCTTTACCCCGCATGGGTGCCCCGGCATCGGTGAAGAGCATGGCCATGAGCAGGTCCAGGTTGCAGTTGGGCTCATTGTTGTCAGGGTCCCTGGCGAAGCGGCGAAGCATGGTCCGCAGCACGTTATCCAGGGAGGTGGCCGTCTCGTTCAGGACGATGCTGGCCTGCGCCAGGAAGCCATCTAGGTCGCGGTGCGCACGGATCTCTTCCTTGAAGTTCTTTAACTTCAGGTACTGAGGGGACCCCAGGGACAGAACCACACGGGCCCATGTATGAGATGCTGTCACTGCCTGGTCCCTCCCTCCCAGCCAGCCGCAGCAGTCCAGCCCCCAGCCCCCAGCCCCCAGCCCTGGGCTGGTGCGAGCTCCCTGTTGAGCTGCTCCTGGAGGCATGGGAAGAGGGGAGCAGCGGGAGGATTCTCAGGGAAGCCATCACCTCAGCCCCCAGGTAGAGGCCCCAGGACCACCTGCAGGACAGGCCATTCACCTTTCGGGAGGTGTGCAGGAGCACACAGCCACCGGAAGTCGCTTCATTCTCTGCCGGAGAAAAGCGGGGAGGGCTCAGGGTGCCACCCTCTCCTCAGGTCTTTCTTAGTAAGGCGAGTCACACCTGCCCAGTCCCGTGCCTTCCCCCAGTCTGCCCCTGCTGCAGCCCCCATACCAGTGTTGGTGGCCTGCATCTCAAGGTTGACATTGACAAAAAAACGGATACTCTCGCCAGACACGATGGAGGAGTTGGCAGTGTCGAAGGCCTCATCCCCCAGGATCTCCTCTCGGGCTTCGAAGGTGTCATCTGTGTCACACTTGTAGTAGCCTAGAGACCCCCAAGAGCAAGAGGGCCTGGCTGTTAAAGTGCCACACACAGGAAGGAGGGGCTCCAAGCCCAGGGAGCAGGGACCCCTGGACTGTCCCACTCTCGGGCCGTGGTGGGAGAGGCCATCCCATAGGCGAGGAAGGCAGCTTCTAGTCCTGCCCCAGCCCCACACAGGACATGGCAGCTGCCACAAAGTGAGTCTCCAGCATTCCCTAGCCGCTGAGACCAGGACCCTGCGCAGCTTTGACCCTTCAGCGTGAGAAAAACATGTCCACTCCAGACACATTGGGGCAGGCACGGAGTGCAATAATGCAGATGAGACTGCCTGGCCCCTGCCCTCCCAAAGTAGGGAACACAGGGAAGGCAGAGAAGCTGCAGTATCCACGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGCTGCCTTGTGGGCACAGGGTCTTAGAGCTCCGCCTCCCCAGGAGGGCAGGTGGGGAGAAGCATCGAGGCTGAGAGACCCAGGACAGGTATCAGACAAGGTCTAGGGAGCAGGAAAACCAGGGAAACAGAGCCAGGGGCTGACAGGGGAGAGGACCCCAAGGCCTCATGTCAGCCCTGCCCCCATCGTGCTCCTCTTCATGTTCTGGGGGCCCTGGGTAAGGGCACATGGAGAGTGAGGGTGTGTAATGGCACCTGTGGGATGTGGGACCCCAGAGGTGAGAGCCTGCTCCCCTTGGTCCTCAATTCCTGCAGCTGGCCAGCAGCACACCCCTCTTCCTACAGGAAGATTTCCTGGTAACATGCAAATATTCCTCTGCCCTGAGCCCTGCAGTGGCTCCCTGCAGCCTACAGATCACAGCCTGAGCCAGCCCTGCTCCCCCTGCCCTGACCACTGGCTCCTCAGGCCATCCGGTCAGCACCCTAGGCATGCAAGGTCCTGTCCTCCAAGCTGAGGGCTTCCCTCCCTGGAGGGCCTTTTTCAAGACTCACTTGGAACCTCCTCCTCCAGGAAGTCCTCCTAGATCCCTGCCTCACCCCTGGCCACTGGCAGCCCTTCCTGTCTTGTGGGTCCCCTAAGGTTCC
|
TCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGAATTCTCCCCCCAGTTCTGTGGGCGAACCAGGCGGCTGATGCACACGTGCCGCTTCTGTAGGGCCTTCATGGTACAGCTGGCAGGGGCGGGGAGGACACAGTGCACAGTTGCACCCCAGGGAGCTGGGGCTCCCCGACCCAGAACCCCCTCGACCTTGACCCCTGGCGACCTCTGCTAGGGAGGGAAAAGAAGAGCAAATGGGACGTTCCTTGGCAGTGCTCCAGCCCTCTTCTCCCAAGTTGGTTGGGCCGCCAGAGCCCCAGGACTCACAGGTGGGCTGGCCTCTGCAGGGCACAGGGGACATGGGACACCCAGTTCCACTGCGACAAGAAGGGGGGCCAAGTGGCCTGGCAACTCACATGATGCAGAGCCACGACTGCTGGTACCGCCCCCTGTCACTGTGGCGGTGACCCCTTGGATGGTATCTGACAGCAGGTGGACTGAGGAAAGAGTGAGGGGGAGGGTGGTGGGTCAACAGCCCCTCCCAACGCCCCCGCCCGGGCCGGGAGACCGGCCTCACCTTTACCCCGCATGGGTGCCCCGGCATCGGTGAAGAGCATGGCCATGAGCAGGTCCAGGTTGCAGTTGGGCTCATTGTTGTCAGGGTCCCTGGCGAAGCGGCGAAGCATGGTCCGCAGCACGTTATCCAGGGAGGTGGCCGTCTCGTTCAGGACGATGCTGGCCTGCGCCAGGAAGCCATCTAGGTCGCGGTGCGCACGGATCTCTTCCTTGAAGTTCTTTAACTTCAGGTACTGAGGGGACCCCAGGGACAGAACCACACGGGCCCATGTATGAGATGCTGTCACTGCCTGGTCCCTCCCTCCCAGCCAGCCGCAGCAGTCCAGCCCCCAGCCCCCAGCCCCCAGCCCTGGGCTGGTGCGAGCTCCCTGTTGAGCTGCTCCTGGAGGCATGGGAAGAGGGGAGCAGCGGGAGGATTCTCAGGGAAGCCATCACCTCAGCCCCCAGGTAGAGGCCCCAGGACCACCTGCAGGACAGGCCATTCACCTTTCGGGAGGTGTGCAGGAGCACACAGCCACCGGAAGTCGCTTCATTCTCTGCCGGAGAAAAGCGGGGAGGGCTCAGGGTGCCACCCTCTCCTCAGGTCTTTCTTAGTAAGGCGAGTCACACCTGCCCAGTCCCGTGCCTTCCCCCAGTCTGCCCCTGCTGCAGCCCCCATACCAGTGTTGGTGGCCTGCATCTCAAGGTTGACATTGACAAAAAAACGGATACTCTCGCCAGACACGATGGAGGAGTTGGCAGTGTCGAAGGCCTCATCCCCCAGGATCTCCTCTCGGGCTTCGAAGGTGTCATCTGTGTCACACTTGTAGTAGCCTAGAGACCCCCAAGAGCAAGAGGGCCTGGCTGTTAAAGTGCCACACACAGGAAGGAGGGGCTCCAAGCCCAGGGAGCAGGGACCCCTGGACTGTCCCACTCTCGGGCCGTGGTGGGAGAGGCCATCCCATAGGCGAGGAAGGCAGCTTCTAGTCCTGCCCCAGCCCCACACAGGACATGGCAGCTGCCACAAAGTGAGTCTCCAGCATTCCCTAGCCGCTGAGACCAGGACCCTGCGCAGCTTTGACCCTTCAGCGTGAGAAAAACATGTCCACTCCAGACACATTGGGGCAGGCACGGAGTGCAATAATGCAGATGAGACTGCCTGGCCCCTGCCCTCCCAAAGTAGGGAACACAGGGAAGGCAGAGAAGCTGCAGTATCCACGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGCTGCCTTGTGGGCACAGGGTCTTAGAGCTCCGCCTCCCCAGGAGGGCAGGTGGGGAGAAGCATCGAGGCTGAGAGACCCAGGACAGGTATCAGACAAGGTCTAGGGAGCAGGAAAACCAGGGAAACAGAGCCAGGGGCTGACAGGGGAGAGGACCCCAAGGCCTCATGTCAGCCCTGCCCCCATCGTGCTCCTCTTCATGTTCTGGGGGCCCTGGGTAAGGGCACATGGAGAGTGAGGGTGTGTAATGGCACCTGTGGGATGTGGGACCCCAGAGGTGAGAGCCTGCTCCCCTTGGTCCTCAATTCCTGCAGCTGGCCAGCAGCACACCCCTCTTCCTACAGGAAGATTTCCTGGTAACATGCAAATATTCCTCTGCCCTGAGCCCTGCAGTGGCTCCCTGCAGCCTACAGATCACAGCCTGAGCCAGCCCTGCTCCCCCTGCCCTGACCACTGGCTCCTCAGGCCATCCGGTCAGCACCCTAGGCATGCAAGGTCCTGTCCTCCAAGCTGAGGGCTTCCCTCCCTGGAGGGCCTTTTTCAAGACTCACTTGGAACCTCCTCCTCCAGGAAGTCCTCCTAGATCCCTGCCTCACCCCTGGCCACTGGCAGCCCTTCCTGTCTTGTGGGTCCCCTAAGGTTCCN
|
pathogenic
| 310,932 |
The mutation in gene SLC4A11 (solute carrier family 4 member 11) at chromosome 20, position 3234173—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Congenital_hereditary_endothelial_dystrophy_of_cornea', 'Corneal_dystrophy,_Fuchs_endothelial,_4', 'Corneal_dystrophy-perceptive_deafness_syndrome']
|
TGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGAATTCTCCCCCCAGTTCTGTGGGCGAACCAGGCGGCTGATGCACACGTGCCGCTTCTGTAGGGCCTTCATGGTACAGCTGGCAGGGGCGGGGAGGACACAGTGCACAGTTGCACCCCAGGGAGCTGGGGCTCCCCGACCCAGAACCCCCTCGACCTTGACCCCTGGCGACCTCTGCTAGGGAGGGAAAAGAAGAGCAAATGGGACGTTCCTTGGCAGTGCTCCAGCCCTCTTCTCCCAAGTTGGTTGGGCCGCCAGAGCCCCAGGACTCACAGGTGGGCTGGCCTCTGCAGGGCACAGGGGACATGGGACACCCAGTTCCACTGCGACAAGAAGGGGGGCCAAGTGGCCTGGCAACTCACATGATGCAGAGCCACGACTGCTGGTACCGCACCCCTGTCACTGTGGCGGTGACCCCTTGGATGGTATCTGACAGCAGGTGGACTGAGGAAAGAGTGAGGGGGAGGGTGGTGGGTCAACAGCCCCTCCCAACGCCCCCGCCCGGGCCGGGAGACCGGCCTCACCTTTACCCCGCATGGGTGCCCCGGCATCGGTGAAGAGCATGGCCATGAGCAGGTCCAGGTTGCAGTTGGGCTCATTGTTGTCAGGGTCCCTGGCGAAGCGGCGAAGCATGGTCCGCAGCACGTTATCCAGGGAGGTGGCCGTCTCGTTCAGGACGATGCTGGCCTGCGCCAGGAAGCCATCTAGGTCGCGGTGCGCACGGATCTCTTCCTTGAAGTTCTTTAACTTCAGGTACTGAGGGGACCCCAGGGACAGAACCACACGGGCCCATGTATGAGATGCTGTCACTGCCTGGTCCCTCCCTCCCAGCCAGCCGCAGCAGTCCAGCCCCCAGCCCCCAGCCCCCAGCCCTGGGCTGGTGCGAGCTCCCTGTTGAGCTGCTCCTGGAGGCATGGGAAGAGGGGAGCAGCGGGAGGATTCTCAGGGAAGCCATCACCTCAGCCCCCAGGTAGAGGCCCCAGGACCACCTGCAGGACAGGCCATTCACCTTTCGGGAGGTGTGCAGGAGCACACAGCCACCGGAAGTCGCTTCATTCTCTGCCGGAGAAAAGCGGGGAGGGCTCAGGGTGCCACCCTCTCCTCAGGTCTTTCTTAGTAAGGCGAGTCACACCTGCCCAGTCCCGTGCCTTCCCCCAGTCTGCCCCTGCTGCAGCCCCCATACCAGTGTTGGTGGCCTGCATCTCAAGGTTGACATTGACAAAAAAACGGATACTCTCGCCAGACACGATGGAGGAGTTGGCAGTGTCGAAGGCCTCATCCCCCAGGATCTCCTCTCGGGCTTCGAAGGTGTCATCTGTGTCACACTTGTAGTAGCCTAGAGACCCCCAAGAGCAAGAGGGCCTGGCTGTTAAAGTGCCACACACAGGAAGGAGGGGCTCCAAGCCCAGGGAGCAGGGACCCCTGGACTGTCCCACTCTCGGGCCGTGGTGGGAGAGGCCATCCCATAGGCGAGGAAGGCAGCTTCTAGTCCTGCCCCAGCCCCACACAGGACATGGCAGCTGCCACAAAGTGAGTCTCCAGCATTCCCTAGCCGCTGAGACCAGGACCCTGCGCAGCTTTGACCCTTCAGCGTGAGAAAAACATGTCCACTCCAGACACATTGGGGCAGGCACGGAGTGCAATAATGCAGATGAGACTGCCTGGCCCCTGCCCTCCCAAAGTAGGGAACACAGGGAAGGCAGAGAAGCTGCAGTATCCACGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGCTGCCTTGTGGGCACAGGGTCTTAGAGCTCCGCCTCCCCAGGAGGGCAGGTGGGGAGAAGCATCGAGGCTGAGAGACCCAGGACAGGTATCAGACAAGGTCTAGGGAGCAGGAAAACCAGGGAAACAGAGCCAGGGGCTGACAGGGGAGAGGACCCCAAGGCCTCATGTCAGCCCTGCCCCCATCGTGCTCCTCTTCATGTTCTGGGGGCCCTGGGTAAGGGCACATGGAGAGTGAGGGTGTGTAATGGCACCTGTGGGATGTGGGACCCCAGAGGTGAGAGCCTGCTCCCCTTGGTCCTCAATTCCTGCAGCTGGCCAGCAGCACACCCCTCTTCCTACAGGAAGATTTCCTGGTAACATGCAAATATTCCTCTGCCCTGAGCCCTGCAGTGGCTCCCTGCAGCCTACAGATCACAGCCTGAGCCAGCCCTGCTCCCCCTGCCCTGACCACTGGCTCCTCAGGCCATCCGGTCAGCACCCTAGGCATGCAAGGTCCTGTCCTCCAAGCTGAGGGCTTCCCTCCCTGGAGGGCCTTTTTCAAGACTCACTTGGAACCTCCTCCTCCAGGAAGTCCTCCTAGATCCCTGCCTCACCCCTGGCCACTGGCAGCCCTTCCTGTCTTGTGGGTCCCCTAAGGTTCCTCACTTGTAGGTACTCCCAGGAAAGGGGCCCTTATAGCCCAGACCCCACTGATGCCTGACAGACACCTGTGCAGAAACAAGGATGGGTCAGCAGCACGCCTGCACCTGCCAGGGAGTGACTCACCCTGACTCACTTCTACTCCCGCCGCCAGTTTCCTTGGCACATCCCAGGCCCTGTTCCCCCAGTGTCCTGAGTTTAGCCTGGGCCCCTTCTGGGTAGGAA
|
TGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGAATTCTCCCCCCAGTTCTGTGGGCGAACCAGGCGGCTGATGCACACGTGCCGCTTCTGTAGGGCCTTCATGGTACAGCTGGCAGGGGCGGGGAGGACACAGTGCACAGTTGCACCCCAGGGAGCTGGGGCTCCCCGACCCAGAACCCCCTCGACCTTGACCCCTGGCGACCTCTGCTAGGGAGGGAAAAGAAGAGCAAATGGGACGTTCCTTGGCAGTGCTCCAGCCCTCTTCTCCCAAGTTGGTTGGGCCGCCAGAGCCCCAGGACTCACAGGTGGGCTGGCCTCTGCAGGGCACAGGGGACATGGGACACCCAGTTCCACTGCGACAAGAAGGGGGGCCAAGTGGCCTGGCAACTCACATGATGCAGAGCCACGACTGCTGGTACCGCACCCCTGTCACTGTGGCGGTGACCCCTTGGATGGTATCTGACAGCAGGTGGACTGAGGAAAGAGTGAGGGGGAGGGTGGTGGGTCAACAGCCCCTCCCAACGCCCCCGCCCGGGCCGGGAGACCGGCCTCACCTTTACCCCGCATGGGTGCCCCGGCATCGGTGAAGAGCATGGCCATGAGCAGGTCCAGGTTGCAGTTGGGCTCATTGTTGTCAGGGTCCCTGGCGAAGCGGCGAAGCGGCGAAGCATGGTCCGCAGCACGTTATCCAGGGAGGTGGCCGTCTCGTTCAGGACGATGCTGGCCTGCGCCAGGAAGCCATCTAGGTCGCGGTGCGCACGGATCTCTTCCTTGAAGTTCTTTAACTTCAGGTACTGAGGGGACCCCAGGGACAGAACCACACGGGCCCATGTATGAGATGCTGTCACTGCCTGGTCCCTCCCTCCCAGCCAGCCGCAGCAGTCCAGCCCCCAGCCCCCAGCCCCCAGCCCTGGGCTGGTGCGAGCTCCCTGTTGAGCTGCTCCTGGAGGCATGGGAAGAGGGGAGCAGCGGGAGGATTCTCAGGGAAGCCATCACCTCAGCCCCCAGGTAGAGGCCCCAGGACCACCTGCAGGACAGGCCATTCACCTTTCGGGAGGTGTGCAGGAGCACACAGCCACCGGAAGTCGCTTCATTCTCTGCCGGAGAAAAGCGGGGAGGGCTCAGGGTGCCACCCTCTCCTCAGGTCTTTCTTAGTAAGGCGAGTCACACCTGCCCAGTCCCGTGCCTTCCCCCAGTCTGCCCCTGCTGCAGCCCCCATACCAGTGTTGGTGGCCTGCATCTCAAGGTTGACATTGACAAAAAAACGGATACTCTCGCCAGACACGATGGAGGAGTTGGCAGTGTCGAAGGCCTCATCCCCCAGGATCTCCTCTCGGGCTTCGAAGGTGTCATCTGTGTCACACTTGTAGTAGCCTAGAGACCCCCAAGAGCAAGAGGGCCTGGCTGTTAAAGTGCCACACACAGGAAGGAGGGGCTCCAAGCCCAGGGAGCAGGGACCCCTGGACTGTCCCACTCTCGGGCCGTGGTGGGAGAGGCCATCCCATAGGCGAGGAAGGCAGCTTCTAGTCCTGCCCCAGCCCCACACAGGACATGGCAGCTGCCACAAAGTGAGTCTCCAGCATTCCCTAGCCGCTGAGACCAGGACCCTGCGCAGCTTTGACCCTTCAGCGTGAGAAAAACATGTCCACTCCAGACACATTGGGGCAGGCACGGAGTGCAATAATGCAGATGAGACTGCCTGGCCCCTGCCCTCCCAAAGTAGGGAACACAGGGAAGGCAGAGAAGCTGCAGTATCCACGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGCTGCCTTGTGGGCACAGGGTCTTAGAGCTCCGCCTCCCCAGGAGGGCAGGTGGGGAGAAGCATCGAGGCTGAGAGACCCAGGACAGGTATCAGACAAGGTCTAGGGAGCAGGAAAACCAGGGAAACAGAGCCAGGGGCTGACAGGGGAGAGGACCCCAAGGCCTCATGTCAGCCCTGCCCCCATCGTGCTCCTCTTCATGTTCTGGGGGCCCTGGGTAAGGGCACATGGAGAGTGAGGGTGTGTAATGGCACCTGTGGGATGTGGGACCCCAGAGGTGAGAGCCTGCTCCCCTTGGTCCTCAATTCCTGCAGCTGGCCAGCAGCACACCCCTCTTCCTACAGGAAGATTTCCTGGTAACATGCAAATATTCCTCTGCCCTGAGCCCTGCAGTGGCTCCCTGCAGCCTACAGATCACAGCCTGAGCCAGCCCTGCTCCCCCTGCCCTGACCACTGGCTCCTCAGGCCATCCGGTCAGCACCCTAGGCATGCAAGGTCCTGTCCTCCAAGCTGAGGGCTTCCCTCCCTGGAGGGCCTTTTTCAAGACTCACTTGGAACCTCCTCCTCCAGGAAGTCCTCCTAGATCCCTGCCTCACCCCTGGCCACTGGCAGCCCTTCCTGTCTTGTGGGTCCCCTAAGGTTCCTCACTTGTAGGTACTCCCAGGAAAGGGGCCCTTATAGCCCAGACCCCACTGATGCCTGACAGACACCTGTGCAGAAACAAGGATGGGTCAGCAGCACGCCTGCACCTGCCAGGGAGTGACTCACCCTGACTCACTTCTACTCCCGCCGCCAGTTTCCTTGGCACATCCCAGGCCCTGTTCCCCCAGTGTCCTGAGTTTAGCCTGGGCCCCTTCTG
|
pathogenic
| 310,933 |
Clinically, how would you classify the variant at chromosome 20, position 3234173, gene SLC4A11 (solute carrier family 4 member 11): benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Congenital_hereditary_endothelial_dystrophy_of_cornea', 'Corneal_dystrophy,_Fuchs_endothelial,_4', 'Corneal_dystrophy-perceptive_deafness_syndrome']
|
TGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGAATTCTCCCCCCAGTTCTGTGGGCGAACCAGGCGGCTGATGCACACGTGCCGCTTCTGTAGGGCCTTCATGGTACAGCTGGCAGGGGCGGGGAGGACACAGTGCACAGTTGCACCCCAGGGAGCTGGGGCTCCCCGACCCAGAACCCCCTCGACCTTGACCCCTGGCGACCTCTGCTAGGGAGGGAAAAGAAGAGCAAATGGGACGTTCCTTGGCAGTGCTCCAGCCCTCTTCTCCCAAGTTGGTTGGGCCGCCAGAGCCCCAGGACTCACAGGTGGGCTGGCCTCTGCAGGGCACAGGGGACATGGGACACCCAGTTCCACTGCGACAAGAAGGGGGGCCAAGTGGCCTGGCAACTCACATGATGCAGAGCCACGACTGCTGGTACCGCACCCCTGTCACTGTGGCGGTGACCCCTTGGATGGTATCTGACAGCAGGTGGACTGAGGAAAGAGTGAGGGGGAGGGTGGTGGGTCAACAGCCCCTCCCAACGCCCCCGCCCGGGCCGGGAGACCGGCCTCACCTTTACCCCGCATGGGTGCCCCGGCATCGGTGAAGAGCATGGCCATGAGCAGGTCCAGGTTGCAGTTGGGCTCATTGTTGTCAGGGTCCCTGGCGAAGCGGCGAAGCATGGTCCGCAGCACGTTATCCAGGGAGGTGGCCGTCTCGTTCAGGACGATGCTGGCCTGCGCCAGGAAGCCATCTAGGTCGCGGTGCGCACGGATCTCTTCCTTGAAGTTCTTTAACTTCAGGTACTGAGGGGACCCCAGGGACAGAACCACACGGGCCCATGTATGAGATGCTGTCACTGCCTGGTCCCTCCCTCCCAGCCAGCCGCAGCAGTCCAGCCCCCAGCCCCCAGCCCCCAGCCCTGGGCTGGTGCGAGCTCCCTGTTGAGCTGCTCCTGGAGGCATGGGAAGAGGGGAGCAGCGGGAGGATTCTCAGGGAAGCCATCACCTCAGCCCCCAGGTAGAGGCCCCAGGACCACCTGCAGGACAGGCCATTCACCTTTCGGGAGGTGTGCAGGAGCACACAGCCACCGGAAGTCGCTTCATTCTCTGCCGGAGAAAAGCGGGGAGGGCTCAGGGTGCCACCCTCTCCTCAGGTCTTTCTTAGTAAGGCGAGTCACACCTGCCCAGTCCCGTGCCTTCCCCCAGTCTGCCCCTGCTGCAGCCCCCATACCAGTGTTGGTGGCCTGCATCTCAAGGTTGACATTGACAAAAAAACGGATACTCTCGCCAGACACGATGGAGGAGTTGGCAGTGTCGAAGGCCTCATCCCCCAGGATCTCCTCTCGGGCTTCGAAGGTGTCATCTGTGTCACACTTGTAGTAGCCTAGAGACCCCCAAGAGCAAGAGGGCCTGGCTGTTAAAGTGCCACACACAGGAAGGAGGGGCTCCAAGCCCAGGGAGCAGGGACCCCTGGACTGTCCCACTCTCGGGCCGTGGTGGGAGAGGCCATCCCATAGGCGAGGAAGGCAGCTTCTAGTCCTGCCCCAGCCCCACACAGGACATGGCAGCTGCCACAAAGTGAGTCTCCAGCATTCCCTAGCCGCTGAGACCAGGACCCTGCGCAGCTTTGACCCTTCAGCGTGAGAAAAACATGTCCACTCCAGACACATTGGGGCAGGCACGGAGTGCAATAATGCAGATGAGACTGCCTGGCCCCTGCCCTCCCAAAGTAGGGAACACAGGGAAGGCAGAGAAGCTGCAGTATCCACGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGCTGCCTTGTGGGCACAGGGTCTTAGAGCTCCGCCTCCCCAGGAGGGCAGGTGGGGAGAAGCATCGAGGCTGAGAGACCCAGGACAGGTATCAGACAAGGTCTAGGGAGCAGGAAAACCAGGGAAACAGAGCCAGGGGCTGACAGGGGAGAGGACCCCAAGGCCTCATGTCAGCCCTGCCCCCATCGTGCTCCTCTTCATGTTCTGGGGGCCCTGGGTAAGGGCACATGGAGAGTGAGGGTGTGTAATGGCACCTGTGGGATGTGGGACCCCAGAGGTGAGAGCCTGCTCCCCTTGGTCCTCAATTCCTGCAGCTGGCCAGCAGCACACCCCTCTTCCTACAGGAAGATTTCCTGGTAACATGCAAATATTCCTCTGCCCTGAGCCCTGCAGTGGCTCCCTGCAGCCTACAGATCACAGCCTGAGCCAGCCCTGCTCCCCCTGCCCTGACCACTGGCTCCTCAGGCCATCCGGTCAGCACCCTAGGCATGCAAGGTCCTGTCCTCCAAGCTGAGGGCTTCCCTCCCTGGAGGGCCTTTTTCAAGACTCACTTGGAACCTCCTCCTCCAGGAAGTCCTCCTAGATCCCTGCCTCACCCCTGGCCACTGGCAGCCCTTCCTGTCTTGTGGGTCCCCTAAGGTTCCTCACTTGTAGGTACTCCCAGGAAAGGGGCCCTTATAGCCCAGACCCCACTGATGCCTGACAGACACCTGTGCAGAAACAAGGATGGGTCAGCAGCACGCCTGCACCTGCCAGGGAGTGACTCACCCTGACTCACTTCTACTCCCGCCGCCAGTTTCCTTGGCACATCCCAGGCCCTGTTCCCCCAGTGTCCTGAGTTTAGCCTGGGCCCCTTCTGGGTAGGAA
|
TGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGAATTCTCCCCCCAGTTCTGTGGGCGAACCAGGCGGCTGATGCACACGTGCCGCTTCTGTAGGGCCTTCATGGTACAGCTGGCAGGGGCGGGGAGGACACAGTGCACAGTTGCACCCCAGGGAGCTGGGGCTCCCCGACCCAGAACCCCCTCGACCTTGACCCCTGGCGACCTCTGCTAGGGAGGGAAAAGAAGAGCAAATGGGACGTTCCTTGGCAGTGCTCCAGCCCTCTTCTCCCAAGTTGGTTGGGCCGCCAGAGCCCCAGGACTCACAGGTGGGCTGGCCTCTGCAGGGCACAGGGGACATGGGACACCCAGTTCCACTGCGACAAGAAGGGGGGCCAAGTGGCCTGGCAACTCACATGATGCAGAGCCACGACTGCTGGTACCGCACCCCTGTCACTGTGGCGGTGACCCCTTGGATGGTATCTGACAGCAGGTGGACTGAGGAAAGAGTGAGGGGGAGGGTGGTGGGTCAACAGCCCCTCCCAACGCCCCCGCCCGGGCCGGGAGACCGGCCTCACCTTTACCCCGCATGGGTGCCCCGGCATCGGTGAAGAGCATGGCCATGAGCAGGTCCAGGTTGCAGTTGGGCTCATTGTTGTCAGGGTCCCGGGCGAAGCATGGTCCGCAGCACGTTATCCAGGGAGGTGGCCGTCTCGTTCAGGACGATGCTGGCCTGCGCCAGGAAGCCATCTAGGTCGCGGTGCGCACGGATCTCTTCCTTGAAGTTCTTTAACTTCAGGTACTGAGGGGACCCCAGGGACAGAACCACACGGGCCCATGTATGAGATGCTGTCACTGCCTGGTCCCTCCCTCCCAGCCAGCCGCAGCAGTCCAGCCCCCAGCCCCCAGCCCCCAGCCCTGGGCTGGTGCGAGCTCCCTGTTGAGCTGCTCCTGGAGGCATGGGAAGAGGGGAGCAGCGGGAGGATTCTCAGGGAAGCCATCACCTCAGCCCCCAGGTAGAGGCCCCAGGACCACCTGCAGGACAGGCCATTCACCTTTCGGGAGGTGTGCAGGAGCACACAGCCACCGGAAGTCGCTTCATTCTCTGCCGGAGAAAAGCGGGGAGGGCTCAGGGTGCCACCCTCTCCTCAGGTCTTTCTTAGTAAGGCGAGTCACACCTGCCCAGTCCCGTGCCTTCCCCCAGTCTGCCCCTGCTGCAGCCCCCATACCAGTGTTGGTGGCCTGCATCTCAAGGTTGACATTGACAAAAAAACGGATACTCTCGCCAGACACGATGGAGGAGTTGGCAGTGTCGAAGGCCTCATCCCCCAGGATCTCCTCTCGGGCTTCGAAGGTGTCATCTGTGTCACACTTGTAGTAGCCTAGAGACCCCCAAGAGCAAGAGGGCCTGGCTGTTAAAGTGCCACACACAGGAAGGAGGGGCTCCAAGCCCAGGGAGCAGGGACCCCTGGACTGTCCCACTCTCGGGCCGTGGTGGGAGAGGCCATCCCATAGGCGAGGAAGGCAGCTTCTAGTCCTGCCCCAGCCCCACACAGGACATGGCAGCTGCCACAAAGTGAGTCTCCAGCATTCCCTAGCCGCTGAGACCAGGACCCTGCGCAGCTTTGACCCTTCAGCGTGAGAAAAACATGTCCACTCCAGACACATTGGGGCAGGCACGGAGTGCAATAATGCAGATGAGACTGCCTGGCCCCTGCCCTCCCAAAGTAGGGAACACAGGGAAGGCAGAGAAGCTGCAGTATCCACGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGCTGCCTTGTGGGCACAGGGTCTTAGAGCTCCGCCTCCCCAGGAGGGCAGGTGGGGAGAAGCATCGAGGCTGAGAGACCCAGGACAGGTATCAGACAAGGTCTAGGGAGCAGGAAAACCAGGGAAACAGAGCCAGGGGCTGACAGGGGAGAGGACCCCAAGGCCTCATGTCAGCCCTGCCCCCATCGTGCTCCTCTTCATGTTCTGGGGGCCCTGGGTAAGGGCACATGGAGAGTGAGGGTGTGTAATGGCACCTGTGGGATGTGGGACCCCAGAGGTGAGAGCCTGCTCCCCTTGGTCCTCAATTCCTGCAGCTGGCCAGCAGCACACCCCTCTTCCTACAGGAAGATTTCCTGGTAACATGCAAATATTCCTCTGCCCTGAGCCCTGCAGTGGCTCCCTGCAGCCTACAGATCACAGCCTGAGCCAGCCCTGCTCCCCCTGCCCTGACCACTGGCTCCTCAGGCCATCCGGTCAGCACCCTAGGCATGCAAGGTCCTGTCCTCCAAGCTGAGGGCTTCCCTCCCTGGAGGGCCTTTTTCAAGACTCACTTGGAACCTCCTCCTCCAGGAAGTCCTCCTAGATCCCTGCCTCACCCCTGGCCACTGGCAGCCCTTCCTGTCTTGTGGGTCCCCTAAGGTTCCTCACTTGTAGGTACTCCCAGGAAAGGGGCCCTTATAGCCCAGACCCCACTGATGCCTGACAGACACCTGTGCAGAAACAAGGATGGGTCAGCAGCACGCCTGCACCTGCCAGGGAGTGACTCACCCTGACTCACTTCTACTCCCGCCGCCAGTTTCCTTGGCACATCCCAGGCCCTGTTCCCCCAGTGTCCTGAGTTTAGCCTGGGCCCCTTCTGGGTAGGAANNNNNNNN
|
pathogenic
| 310,934 |
Does the variant on chromosome 20 at location 3234173 affecting gene SLC4A11 (solute carrier family 4 member 11) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Congenital_hereditary_endothelial_dystrophy_of_cornea', 'Corneal_dystrophy-perceptive_deafness_syndrome']
|
TGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGAATTCTCCCCCCAGTTCTGTGGGCGAACCAGGCGGCTGATGCACACGTGCCGCTTCTGTAGGGCCTTCATGGTACAGCTGGCAGGGGCGGGGAGGACACAGTGCACAGTTGCACCCCAGGGAGCTGGGGCTCCCCGACCCAGAACCCCCTCGACCTTGACCCCTGGCGACCTCTGCTAGGGAGGGAAAAGAAGAGCAAATGGGACGTTCCTTGGCAGTGCTCCAGCCCTCTTCTCCCAAGTTGGTTGGGCCGCCAGAGCCCCAGGACTCACAGGTGGGCTGGCCTCTGCAGGGCACAGGGGACATGGGACACCCAGTTCCACTGCGACAAGAAGGGGGGCCAAGTGGCCTGGCAACTCACATGATGCAGAGCCACGACTGCTGGTACCGCACCCCTGTCACTGTGGCGGTGACCCCTTGGATGGTATCTGACAGCAGGTGGACTGAGGAAAGAGTGAGGGGGAGGGTGGTGGGTCAACAGCCCCTCCCAACGCCCCCGCCCGGGCCGGGAGACCGGCCTCACCTTTACCCCGCATGGGTGCCCCGGCATCGGTGAAGAGCATGGCCATGAGCAGGTCCAGGTTGCAGTTGGGCTCATTGTTGTCAGGGTCCCTGGCGAAGCGGCGAAGCATGGTCCGCAGCACGTTATCCAGGGAGGTGGCCGTCTCGTTCAGGACGATGCTGGCCTGCGCCAGGAAGCCATCTAGGTCGCGGTGCGCACGGATCTCTTCCTTGAAGTTCTTTAACTTCAGGTACTGAGGGGACCCCAGGGACAGAACCACACGGGCCCATGTATGAGATGCTGTCACTGCCTGGTCCCTCCCTCCCAGCCAGCCGCAGCAGTCCAGCCCCCAGCCCCCAGCCCCCAGCCCTGGGCTGGTGCGAGCTCCCTGTTGAGCTGCTCCTGGAGGCATGGGAAGAGGGGAGCAGCGGGAGGATTCTCAGGGAAGCCATCACCTCAGCCCCCAGGTAGAGGCCCCAGGACCACCTGCAGGACAGGCCATTCACCTTTCGGGAGGTGTGCAGGAGCACACAGCCACCGGAAGTCGCTTCATTCTCTGCCGGAGAAAAGCGGGGAGGGCTCAGGGTGCCACCCTCTCCTCAGGTCTTTCTTAGTAAGGCGAGTCACACCTGCCCAGTCCCGTGCCTTCCCCCAGTCTGCCCCTGCTGCAGCCCCCATACCAGTGTTGGTGGCCTGCATCTCAAGGTTGACATTGACAAAAAAACGGATACTCTCGCCAGACACGATGGAGGAGTTGGCAGTGTCGAAGGCCTCATCCCCCAGGATCTCCTCTCGGGCTTCGAAGGTGTCATCTGTGTCACACTTGTAGTAGCCTAGAGACCCCCAAGAGCAAGAGGGCCTGGCTGTTAAAGTGCCACACACAGGAAGGAGGGGCTCCAAGCCCAGGGAGCAGGGACCCCTGGACTGTCCCACTCTCGGGCCGTGGTGGGAGAGGCCATCCCATAGGCGAGGAAGGCAGCTTCTAGTCCTGCCCCAGCCCCACACAGGACATGGCAGCTGCCACAAAGTGAGTCTCCAGCATTCCCTAGCCGCTGAGACCAGGACCCTGCGCAGCTTTGACCCTTCAGCGTGAGAAAAACATGTCCACTCCAGACACATTGGGGCAGGCACGGAGTGCAATAATGCAGATGAGACTGCCTGGCCCCTGCCCTCCCAAAGTAGGGAACACAGGGAAGGCAGAGAAGCTGCAGTATCCACGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGCTGCCTTGTGGGCACAGGGTCTTAGAGCTCCGCCTCCCCAGGAGGGCAGGTGGGGAGAAGCATCGAGGCTGAGAGACCCAGGACAGGTATCAGACAAGGTCTAGGGAGCAGGAAAACCAGGGAAACAGAGCCAGGGGCTGACAGGGGAGAGGACCCCAAGGCCTCATGTCAGCCCTGCCCCCATCGTGCTCCTCTTCATGTTCTGGGGGCCCTGGGTAAGGGCACATGGAGAGTGAGGGTGTGTAATGGCACCTGTGGGATGTGGGACCCCAGAGGTGAGAGCCTGCTCCCCTTGGTCCTCAATTCCTGCAGCTGGCCAGCAGCACACCCCTCTTCCTACAGGAAGATTTCCTGGTAACATGCAAATATTCCTCTGCCCTGAGCCCTGCAGTGGCTCCCTGCAGCCTACAGATCACAGCCTGAGCCAGCCCTGCTCCCCCTGCCCTGACCACTGGCTCCTCAGGCCATCCGGTCAGCACCCTAGGCATGCAAGGTCCTGTCCTCCAAGCTGAGGGCTTCCCTCCCTGGAGGGCCTTTTTCAAGACTCACTTGGAACCTCCTCCTCCAGGAAGTCCTCCTAGATCCCTGCCTCACCCCTGGCCACTGGCAGCCCTTCCTGTCTTGTGGGTCCCCTAAGGTTCCTCACTTGTAGGTACTCCCAGGAAAGGGGCCCTTATAGCCCAGACCCCACTGATGCCTGACAGACACCTGTGCAGAAACAAGGATGGGTCAGCAGCACGCCTGCACCTGCCAGGGAGTGACTCACCCTGACTCACTTCTACTCCCGCCGCCAGTTTCCTTGGCACATCCCAGGCCCTGTTCCCCCAGTGTCCTGAGTTTAGCCTGGGCCCCTTCTGGGTAGGAA
|
TGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGAATTCTCCCCCCAGTTCTGTGGGCGAACCAGGCGGCTGATGCACACGTGCCGCTTCTGTAGGGCCTTCATGGTACAGCTGGCAGGGGCGGGGAGGACACAGTGCACAGTTGCACCCCAGGGAGCTGGGGCTCCCCGACCCAGAACCCCCTCGACCTTGACCCCTGGCGACCTCTGCTAGGGAGGGAAAAGAAGAGCAAATGGGACGTTCCTTGGCAGTGCTCCAGCCCTCTTCTCCCAAGTTGGTTGGGCCGCCAGAGCCCCAGGACTCACAGGTGGGCTGGCCTCTGCAGGGCACAGGGGACATGGGACACCCAGTTCCACTGCGACAAGAAGGGGGGCCAAGTGGCCTGGCAACTCACATGATGCAGAGCCACGACTGCTGGTACCGCACCCCTGTCACTGTGGCGGTGACCCCTTGGATGGTATCTGACAGCAGGTGGACTGAGGAAAGAGTGAGGGGGAGGGTGGTGGGTCAACAGCCCCTCCCAACGCCCCCGCCCGGGCCGGGAGACCGGCCTCACCTTTACCCCGCATGGGTGCCCCGGCATCGGTGAAGAGCATGGCCATGAGCAGGTCCAGGTTGCAGTTGGGCTCATTGTTGTCAGGGTCCCTGGCGAAGCATGGTCCGCAGCACGTTATCCAGGGAGGTGGCCGTCTCGTTCAGGACGATGCTGGCCTGCGCCAGGAAGCCATCTAGGTCGCGGTGCGCACGGATCTCTTCCTTGAAGTTCTTTAACTTCAGGTACTGAGGGGACCCCAGGGACAGAACCACACGGGCCCATGTATGAGATGCTGTCACTGCCTGGTCCCTCCCTCCCAGCCAGCCGCAGCAGTCCAGCCCCCAGCCCCCAGCCCCCAGCCCTGGGCTGGTGCGAGCTCCCTGTTGAGCTGCTCCTGGAGGCATGGGAAGAGGGGAGCAGCGGGAGGATTCTCAGGGAAGCCATCACCTCAGCCCCCAGGTAGAGGCCCCAGGACCACCTGCAGGACAGGCCATTCACCTTTCGGGAGGTGTGCAGGAGCACACAGCCACCGGAAGTCGCTTCATTCTCTGCCGGAGAAAAGCGGGGAGGGCTCAGGGTGCCACCCTCTCCTCAGGTCTTTCTTAGTAAGGCGAGTCACACCTGCCCAGTCCCGTGCCTTCCCCCAGTCTGCCCCTGCTGCAGCCCCCATACCAGTGTTGGTGGCCTGCATCTCAAGGTTGACATTGACAAAAAAACGGATACTCTCGCCAGACACGATGGAGGAGTTGGCAGTGTCGAAGGCCTCATCCCCCAGGATCTCCTCTCGGGCTTCGAAGGTGTCATCTGTGTCACACTTGTAGTAGCCTAGAGACCCCCAAGAGCAAGAGGGCCTGGCTGTTAAAGTGCCACACACAGGAAGGAGGGGCTCCAAGCCCAGGGAGCAGGGACCCCTGGACTGTCCCACTCTCGGGCCGTGGTGGGAGAGGCCATCCCATAGGCGAGGAAGGCAGCTTCTAGTCCTGCCCCAGCCCCACACAGGACATGGCAGCTGCCACAAAGTGAGTCTCCAGCATTCCCTAGCCGCTGAGACCAGGACCCTGCGCAGCTTTGACCCTTCAGCGTGAGAAAAACATGTCCACTCCAGACACATTGGGGCAGGCACGGAGTGCAATAATGCAGATGAGACTGCCTGGCCCCTGCCCTCCCAAAGTAGGGAACACAGGGAAGGCAGAGAAGCTGCAGTATCCACGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGCTGCCTTGTGGGCACAGGGTCTTAGAGCTCCGCCTCCCCAGGAGGGCAGGTGGGGAGAAGCATCGAGGCTGAGAGACCCAGGACAGGTATCAGACAAGGTCTAGGGAGCAGGAAAACCAGGGAAACAGAGCCAGGGGCTGACAGGGGAGAGGACCCCAAGGCCTCATGTCAGCCCTGCCCCCATCGTGCTCCTCTTCATGTTCTGGGGGCCCTGGGTAAGGGCACATGGAGAGTGAGGGTGTGTAATGGCACCTGTGGGATGTGGGACCCCAGAGGTGAGAGCCTGCTCCCCTTGGTCCTCAATTCCTGCAGCTGGCCAGCAGCACACCCCTCTTCCTACAGGAAGATTTCCTGGTAACATGCAAATATTCCTCTGCCCTGAGCCCTGCAGTGGCTCCCTGCAGCCTACAGATCACAGCCTGAGCCAGCCCTGCTCCCCCTGCCCTGACCACTGGCTCCTCAGGCCATCCGGTCAGCACCCTAGGCATGCAAGGTCCTGTCCTCCAAGCTGAGGGCTTCCCTCCCTGGAGGGCCTTTTTCAAGACTCACTTGGAACCTCCTCCTCCAGGAAGTCCTCCTAGATCCCTGCCTCACCCCTGGCCACTGGCAGCCCTTCCTGTCTTGTGGGTCCCCTAAGGTTCCTCACTTGTAGGTACTCCCAGGAAAGGGGCCCTTATAGCCCAGACCCCACTGATGCCTGACAGACACCTGTGCAGAAACAAGGATGGGTCAGCAGCACGCCTGCACCTGCCAGGGAGTGACTCACCCTGACTCACTTCTACTCCCGCCGCCAGTTTCCTTGGCACATCCCAGGCCCTGTTCCCCCAGTGTCCTGAGTTTAGCCTGGGCCCCTTCTGGGTAGGAANNNNNNNN
|
pathogenic
| 310,935 |
Does the variant on chromosome 20 at location 3668985 affecting gene ADAM33 (ADAM metallopeptidase domain 33) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
benign
|
GGTTTCACCACATTGGCCAGGCTGGTCTCGAACTTCTGACCTCAAATGATCCTCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTAGATTCTCTATTTTATGATGGTTTAACATCTCGGGGTGGGGGCTTGTTGGCTGGAGAGAAACTGCTTGATTCCTGGAGATCAGAAACAACTCATGCCTTTCATATGCAAACCGACCAGTCTTGAGTCCATACACCAACCACCCCCTTCAAGGAACTCTCACATACGAAACCAGTATTTCCCCTGCCCTAAACCAGCTCAGGGCCAGGCACCTACCCAGACAATTAGAGCCCAACCCCACGCCCCAAACCCCACCAGAATGATTCAAAATGCCAATCCTACCCTCTTCCCCTGGCCTGCCTTGCCTCCCCAGTGGAAACGGCACTGTGGGCTGTGGCCTGTGCCTTCCACTCGCTCCTGATTCTGTCCCTGGACCAAACCTAGTGCCTCCCCACTGTGGCCCTGCATGGTGGGAAACTGTGAGTAATAACTTATTTCAACAGCATTGGCCTCTGTGTCATCAGTCACCTTCATAAATTAAAATTTTGCAACTACAACTGAGGCAGGAGGGGGCTTTAGAGAGCACTCTCACCTGGCCCCTTGGGCTTGTGGAGTGGAGCCCGAGGTGAAGTTGCCTCCCTGCACTCAGTTTTGGGATGGTTTTGTTATGCGGCAACAGCTGGCTGATATAGGCCACTCAGCAGCTCTTGCATGAAGCAATGGGAGAATGTGAACGCCCAAGGGAAGCAGGAGTGACAGAGCAAAGAGGGTGTTCAAACTAGGCAACACCGTCCTGTGCCCAGACACATGCCTGGGGCTCTGGCTGCCACCTAGGCTCGGCCTGCCAGCCACCACCCCGTCAGCCACCACCCCATCAGCCACCACCCCACCAACCACCACCCCGCCAACCACCACCCCGTGTGGTCCTCAGGGCACCCCATGGGTTGAATTTACATACAGAAAAGACTAACCAAGGTCCAAGTGTAATATGTCTTTTTAAAATTTATTTTAGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCCACCATAGCTCACTGCAGTGTTGAACTCAGGCTCAAGTGATCCTCCTGCTTCAGCCTCCTGAGCAGCTAGGCCTACAGGTACACACCACCACGCCCAGCTAATTTTAAAATTTTTCTGTAGATGCGGTGTCTTGCTGTGTTGCCCAGGCTGGTGTGGACCTGCTGGCCTCTGGTGATCCTCCTACCCCGGCTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCACGCCTATAGCCAACATGTCTTTCTTTTGACTTCTACTTTGGTATCTTTTCTTAAATGGTTCCCTCTGTCCCCCCGACACACACAGAATGGGGGAGAGGCTGTCAGATTCTGAGCTCCAGAACCTCAGGTGTAGCACTGGGATTGGGGGTGGGGGCTCAGGAACCACCTAGGGGAGAAGACAGGGTGGGAAGAAACAGGAAGGAAGGTCCCCAAAATTATGTTTGTTTGCAGAGGCCAGCCAGGCTCCAGGGGAGTGTGGACTCAGTCGAACCATAGGGCCCCAGGACCACTAGCTTCTGGCCAGCAGTCATGCCCTCCACAGAGCTGGGTCCGTGGAAATTGCATGTAGGAGACACACCAGACTCCCAGGACAGAGCCCTTTTGGGATGGCCAGCACTACCCAGCCTCCACTGGTGAGGGAGGTCAGGGGCTGTGTGACCTTTGCTTCTGGGACTGATGGTTTATTGAGCTGGAGAGTGTGCCCAGCAGTGTTCTCCAGCCCTCAGGAACTTCTAATGTGGCTCTGGGTTCCTGGAGTGGGTGGGTCGAAGCTCCACTCGGGGAAGAAACTTCCAAGCTGCCTGCAGGTGCTGGAGGTCCGGTGATTCACTGGCTCTGCCCCTGCAGTTCAAGTTCCTGGAGTGGCTGTCAGTGGCCACCTGTCTTTAAATCTGTTCATTTTAGGAGCTACCTCTCACCAGAGGCAGGATCTTGGCATCTGGACTTGATCTGCTGAGAATGAGGAGGATATGTTGTCCCCTAAGGACTGGGGCCCCAGGCTGCAAGCTGTGTGGCAGAGAGCCCATCCTCACTCAGTGAGGACCAGTGATCCAGGAAAAGCCACAGCTTCTCCCTCCCCAGCCCAGGGGCTTCCAGCATCCTGGTCTGCATGATAACCAAGAGGTCATAAACTCATTTCCATAATAACCTGAGCCCAGAAACCTGATTAGGGGGCAGCAAACTGAGGGGTGGGAGAGGTGGGAGGGTGGGCGATGAGAGGGGGAGGCTTTGAATCCAGGTCCCTGCCTACCTTGGGGGTCAGGCGAGACTGCTGGCAGAGGCTTCTCAGGGTGGCTGCTGGGCTCATGAGAGTTCTCAGGGTCTGGGAGAAATGGTGGAGGGTAAATGTTGTGAATATGGTCAGCAGGAGCCCCTGGGGCTGGGGAGGGGCATAGGGGACTCAAGGTGACTGGGTGCTGCCCATCTGGAAGGAGGCAGGAGGCATGAGCCCTTCCCTTCTCCCTTCCCTCTCCACCTCCCCCTGGTGCCTCACTCACCCAGGGGCCAGGGCTGTCCAGTGGCTGTGGGGCCCAACTCCATGGGGTGAACGCCGCCCAGGGGGTGGTCCCTGTGTGGGCCATCTTTGGGGCTGAGCAACGTGATAAGAGTCCAGGAGGTTGGCACAGTGATCCTGAGTGGGTTATTGCCTCCCCGCAGCATGGTGTCCAGCCCAGGGAGTTCTGCGTTTACTGAGTTTCTTGGGGCACCCATCTGCTCCAAGTCACCCTCTCAGCTCCCTTCCTGCTCCCTCTTCAGGGGAGCCTTGGGATCCAGGCTCCAAGTGAGCCTCATGCCCTCGGCTGGCACCTCCTCTCTCTAGTCCTAACATTTCCTCCAGGCTCTGACAGCAGCCTGGCACTCTCCAGATGCTGGCATCGCTCAGCTTCCAAAGAACCTTGGATGTCCGCCCCTTCGGCAGCTATGTCTGCTCTCCTTGCCCCTGGGTGCCCTGCTGCCCTTGATGATTCCAAGCCATCTTTGACTGTCCCCATCCCATCCCCCAAGGCCTTGTCATTTCCTGTGATGTTCCTTCAAAACATTCTCCCCTGCCCTGAGACTCCCGCCTGGGGATGAGAAGCAGCCGCCACCCTCTGCAGCGCCCCCTCCGTGCTGACACGCCAGGCTCTGGCCACCTTGCTCCTCTGCCCACAGACCCTCAATCACAACTCGCTTTGTCAGGGTCCTCTTAGCTGCCACCCGGGGCCCAGGTGGTGCCCTGCCCCTGTCTGTTATGCCCTCTGCCCCCATCTCTGGCCCAAATCATGCCATCTCCCTTGGCTTGCCCGGAGCACTCCCAAGACCAGGCTATGTCAGACATGGCCACAGAGTGCCTGCCCTGCCTAGGGCCCTGGTGCAGGGTGAGTCCTAGGACAGCCATGCTTAGTATTATGTGACTCCCCACTCCGCCACCACCCAGGTCACAGAGAACTGGGTTAAGGCAGGGCCCTGGCACAGGGGCAGCCAGCACCGCAGCTGACCAGTGGTATGGAGTGAAAAGATGTGCTGGGCCCAGCATTTGGGAACTTCAAGGGGGTGACAGAGGTGATTTGTGCAGAGGAAGTGGCAAAGGGCCGAAAACTGGTGAGACAGAGGCTGGACAGGCCTCCGGGGGCAGCATGGTACAGGGACTGCAATCTGAGCCAGGGAAAAACAGGGCGAAGTCAAGGGTGAGGCAGCCAGCTGGTGGGAGAAGCAGGAGAGTGGACAAGAGGAGCTGTACTGGGAGGTAGAGGGCCATGCCTTGCGGTGCTGGTGGTGGGGCAGGGATCCACCCCCTCGCTTGACTGGGAGGCCACTGGAACCTCCTGTTCAAAGCTACTTCTTTCCATGGCCTCTGGGGCTGCTCTCTGCACCTGGGGGCAAGGCTGAGGGCCTGCCCCAGCTCCCACAGCCCCAGCAGAGCTCTGAGGAGGGGAACCGCAGGAGTAGGCTCAGGAAGCAGGCGCTCGGAGCCTACCCACTGCACGCAGGGTCCCTTCTGCAG
|
GGTTTCACCACATTGGCCAGGCTGGTCTCGAACTTCTGACCTCAAATGATCCTCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTAGATTCTCTATTTTATGATGGTTTAACATCTCGGGGTGGGGGCTTGTTGGCTGGAGAGAAACTGCTTGATTCCTGGAGATCAGAAACAACTCATGCCTTTCATATGCAAACCGACCAGTCTTGAGTCCATACACCAACCACCCCCTTCAAGGAACTCTCACATACGAAACCAGTATTTCCCCTGCCCTAAACCAGCTCAGGGCCAGGCACCTACCCAGACAATTAGAGCCCAACCCCACGCCCCAAACCCCACCAGAATGATTCAAAATGCCAATCCTACCCTCTTCCCCTGGCCTGCCTTGCCTCCCCAGTGGAAACGGCACTGTGGGCTGTGGCCTGTGCCTTCCACTCGCTCCTGATTCTGTCCCTGGACCAAACCTAGTGCCTCCCCACTGTGGCCCTGCATGGTGGGAAACTGTGAGTAATAACTTATTTCAACAGCATTGGCCTCTGTGTCATCAGTCACCTTCATAAATTAAAATTTTGCAACTACAACTGAGGCAGGAGGGGGCTTTAGAGAGCACTCTCACCTGGCCCCTTGGGCTTGTGGAGTGGAGCCCGAGGTGAAGTTGCCTCCCTGCACTCAGTTTTGGGATGGTTTTGTTATGCGGCAACAGCTGGCTGATATAGGCCACTCAGCAGCTCTTGCATGAAGCAATGGGAGAATGTGAACGCCCAAGGGAAGCAGGAGTGACAGAGCAAAGAGGGTGTTCAAACTAGGCAACACCGTCCTGTGCCCAGACACATGCCTGGGGCTCTGGCTGCCACCTAGGCTCGGCCTGCCAGCCACCACCCCGTCAGCCACCACCCCATCAGCCACCACCCCACCAACCACCACCCCGCCAACCACCACCCCGTGTGGTCCTCAGGGCACCCCATGGGTTGAATTTACATACAGAAAAGACTAACCAAGGTCCAAGTGTAATATGTCTTTTTAAAATTTATTTTAGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCCACCATAGCTCACTGCAGTGTTGAACTCAGGCTCAAGTGATCCTCCTGCTTCAGCCTCCTGAGCAGCTAGGCCTACAGGTACACACCACCACGCCCAGCTAATTTTAAAATTTTTCTGTAGATGCGGTGTCTTGCTGTGTTGCCCAGGCTGGTGTGGACCTGCTGGCCTCTGGTGATCCTCCTACCCCGGCTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCACGCCTATAGCCAACATGTCTTTCTTTTGACTTCTACTTTGGTATCTTTTCTTAAATGGTTCCCTCTGTCCCCCCGACACACACAGAATGGGGGAGAGGCTGTCAGATTCTGAGCTCCAGAACCTCAGGTGTAGCACTGGGATTGGGGGTGGGGGCTCAGGAACCACCTAGGGGAGAAGACAGGGTGGGAAGAAACAGGAAGGAAGGTCCCCAAAATTATGTTTGTTTGCAGAGGCCAGCCAGGCTCCAGGGGAGTGTGGACTCAGTCGAACCATAGGGCCCCAGGACCACTAGCTTCTGGCCAGCAGTCATGCCCTCCACAGAGCTGGGTCCGTGGAAATTGCATGTAGGAGACACACCAGACTCCCAGGACAGAGCCCTTTTGGGATGGCCAGCACTACCCAGCCTCCACTGGTGAGGGAGGTCAGGGGCTGTGTGACCTTTGCTTCTGGGACTGATGGTTTATTGAGCTGGAGAGTGTGCCCAGCAGTGTTCTCCAGCCCTCAGGAACTTCTAATGTGGCTCTGGGTTCCTGGAGTGGGTGGGTCGAAGCTCCACTCGGGGAAGAAACTTCCAAGCTGCCTGCAGGTGCTGGAGGTCCGGTGATTCACTGGCTCTGCCCCTGCAGTTCAAGTTCCTGGAGTGGCTGTCAGTGGCCACCTGTCTTTAAATCTGTTCATTTTAGGAGCTACCTCTCACCAGAGGCAGGATCTTGGCATGATCTGCTGAGAATGAGGAGGATATGTTGTCCCCTAAGGACTGGGGCCCCAGGCTGCAAGCTGTGTGGCAGAGAGCCCATCCTCACTCAGTGAGGACCAGTGATCCAGGAAAAGCCACAGCTTCTCCCTCCCCAGCCCAGGGGCTTCCAGCATCCTGGTCTGCATGATAACCAAGAGGTCATAAACTCATTTCCATAATAACCTGAGCCCAGAAACCTGATTAGGGGGCAGCAAACTGAGGGGTGGGAGAGGTGGGAGGGTGGGCGATGAGAGGGGGAGGCTTTGAATCCAGGTCCCTGCCTACCTTGGGGGTCAGGCGAGACTGCTGGCAGAGGCTTCTCAGGGTGGCTGCTGGGCTCATGAGAGTTCTCAGGGTCTGGGAGAAATGGTGGAGGGTAAATGTTGTGAATATGGTCAGCAGGAGCCCCTGGGGCTGGGGAGGGGCATAGGGGACTCAAGGTGACTGGGTGCTGCCCATCTGGAAGGAGGCAGGAGGCATGAGCCCTTCCCTTCTCCCTTCCCTCTCCACCTCCCCCTGGTGCCTCACTCACCCAGGGGCCAGGGCTGTCCAGTGGCTGTGGGGCCCAACTCCATGGGGTGAACGCCGCCCAGGGGGTGGTCCCTGTGTGGGCCATCTTTGGGGCTGAGCAACGTGATAAGAGTCCAGGAGGTTGGCACAGTGATCCTGAGTGGGTTATTGCCTCCCCGCAGCATGGTGTCCAGCCCAGGGAGTTCTGCGTTTACTGAGTTTCTTGGGGCACCCATCTGCTCCAAGTCACCCTCTCAGCTCCCTTCCTGCTCCCTCTTCAGGGGAGCCTTGGGATCCAGGCTCCAAGTGAGCCTCATGCCCTCGGCTGGCACCTCCTCTCTCTAGTCCTAACATTTCCTCCAGGCTCTGACAGCAGCCTGGCACTCTCCAGATGCTGGCATCGCTCAGCTTCCAAAGAACCTTGGATGTCCGCCCCTTCGGCAGCTATGTCTGCTCTCCTTGCCCCTGGGTGCCCTGCTGCCCTTGATGATTCCAAGCCATCTTTGACTGTCCCCATCCCATCCCCCAAGGCCTTGTCATTTCCTGTGATGTTCCTTCAAAACATTCTCCCCTGCCCTGAGACTCCCGCCTGGGGATGAGAAGCAGCCGCCACCCTCTGCAGCGCCCCCTCCGTGCTGACACGCCAGGCTCTGGCCACCTTGCTCCTCTGCCCACAGACCCTCAATCACAACTCGCTTTGTCAGGGTCCTCTTAGCTGCCACCCGGGGCCCAGGTGGTGCCCTGCCCCTGTCTGTTATGCCCTCTGCCCCCATCTCTGGCCCAAATCATGCCATCTCCCTTGGCTTGCCCGGAGCACTCCCAAGACCAGGCTATGTCAGACATGGCCACAGAGTGCCTGCCCTGCCTAGGGCCCTGGTGCAGGGTGAGTCCTAGGACAGCCATGCTTAGTATTATGTGACTCCCCACTCCGCCACCACCCAGGTCACAGAGAACTGGGTTAAGGCAGGGCCCTGGCACAGGGGCAGCCAGCACCGCAGCTGACCAGTGGTATGGAGTGAAAAGATGTGCTGGGCCCAGCATTTGGGAACTTCAAGGGGGTGACAGAGGTGATTTGTGCAGAGGAAGTGGCAAAGGGCCGAAAACTGGTGAGACAGAGGCTGGACAGGCCTCCGGGGGCAGCATGGTACAGGGACTGCAATCTGAGCCAGGGAAAAACAGGGCGAAGTCAAGGGTGAGGCAGCCAGCTGGTGGGAGAAGCAGGAGAGTGGACAAGAGGAGCTGTACTGGGAGGTAGAGGGCCATGCCTTGCGGTGCTGGTGGTGGGGCAGGGATCCACCCCCTCGCTTGACTGGGAGGCCACTGGAACCTCCTGTTCAAAGCTACTTCTTTCCATGGCCTCTGGGGCTGCTCTCTGCACCTGGGGGCAAGGCTGAGGGCCTGCCCCAGCTCCCACAGCCCCAGCAGAGCTCTGAGGAGGGGAACCGCAGGAGTAGGCTCAGGAAGCAGGCGCTCGGAGCCTACCCACTGCACGCAGGGTCCCTTCTGCAGNNNNNNNN
|
benign
| 310,965 |
The chromosome 20, position 3889432 genetic variant in gene PANK2: benign or pathogenic? If pathogenic, indicate disease(s).
|
pathogenic; ['Pigmentary_pallidal_degeneration']
|
CTGCAACCTCCGCCTACCGGATTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCAACTAATTTTTGTGTTTGTTTTTTTTAGTAGAGACGGGGTTTCCCTGTGTTGGCCAGGCTGGTCTCGGACTCCTGACCTTGTGATTCGCACGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTTGAGCCACTGCGCCCGGCCGCTTTCTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACGAGGCGGGATCGACTGGGCTCTTACAGCGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGTG
|
CTGCAACCTCCGCCTACCGGATTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCAACTAATTTTTGTGTTTGTTTTTTTTAGTAGAGACGGGGTTTCCCTGTGTTGGCCAGGCTGGTCTCGGACTCCTGACCTTGTGATTCGCACGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTTGAGCCACTGCGCCCGGCCGCTTTCTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACGAGGCGGGATCGACTGGGCTCTTACAGCGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGT
|
pathogenic
| 310,992 |
Clinically, how would you classify the variant at chromosome 20, position 3889603, gene PANK2: benign or pathogenic? If pathogenic, specify the associated illness(es).
|
pathogenic; ['Hypoprebetalipoproteinemia,_acanthocytosis,_retinitis_pigmentosa,_and_pallidal_degeneration', 'Pigmentary_pallidal_degeneration']
|
TCGCACGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTTGAGCCACTGCGCCCGGCCGCTTTCTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACGAGGCGGGATCGACTGGGCTCTTACAGCGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGTGCGTTGTGAAATAGAAATGTAAACTCAGAATTGCTAGCTTCATAGCTTTTGCGGTGGACCACTGTGTTTTTCTGAATTATTTACGTTCTGTTAGTTATTTCTTCATTGCTCTAAGACCAAGCATAAGTTTGATCTTTTGTGTTCAAGACTGACTTACTTGAGGCGAAAATTT
|
TCGCACGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTTGAGCCACTGCGCCCGGCCGCTTTCTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACGAGGCGGGATCGACTGGGCTCTTACAGCGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGTGCGTTGTGAAATAGAAATGTAAACTCAGAATTGCTAGCTTCATAGCTTTTGCGGTGGACCACTGTGTTTTTCTGAATTATTTACGTTCTGTTAGTTATTTCTTCATTGCTCTAAGACCAAGCATAAGTTTGATCTTTTGTGTTCAAGACTGACTTACTTGAGGCGAAAATTTNNNNNNNN
|
pathogenic
| 310,999 |
Chromosome 20, position 3889645, gene PANK2: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Pigmentary_pallidal_degeneration', 'Retinal_dystrophy']
|
GAGCCACTGCGCCCGGCCGCTTTCTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACGAGGCGGGATCGACTGGGCTCTTACAGCGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGTGCGTTGTGAAATAGAAATGTAAACTCAGAATTGCTAGCTTCATAGCTTTTGCGGTGGACCACTGTGTTTTTCTGAATTATTTACGTTCTGTTAGTTATTTCTTCATTGCTCTAAGACCAAGCATAAGTTTGATCTTTTGTGTTCAAGACTGACTTACTTGAGGCGAAAATTTTTAGATACTGTGGAAGTACTTCCAAATATTGAGCATGAGAAT
|
GAGCCACTGCGCCCGGCCGCTTTCTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACAGAGGCGGGATCGACTGGGCTCTTACAGCGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGTGCGTTGTGAAATAGAAATGTAAACTCAGAATTGCTAGCTTCATAGCTTTTGCGGTGGACCACTGTGTTTTTCTGAATTATTTACGTTCTGTTAGTTATTTCTTCATTGCTCTAAGACCAAGCATAAGTTTGATCTTTTGTGTTCAAGACTGACTTACTTGAGGCGAAAATTTTTAGATACTGTGGAAGTACTTCCAAATATTGAGCATGAGAA
|
pathogenic
| 311,002 |
Does the variant on chromosome 20 at location 3889668 affecting gene PANK2 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
|
pathogenic; ['Hypoprebetalipoproteinemia,_acanthocytosis,_retinitis_pigmentosa,_and_pallidal_degeneration', 'Pigmentary_pallidal_degeneration']
|
CTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACGAGGCGGGATCGACTGGGCTCTTACAGCGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGTGCGTTGTGAAATAGAAATGTAAACTCAGAATTGCTAGCTTCATAGCTTTTGCGGTGGACCACTGTGTTTTTCTGAATTATTTACGTTCTGTTAGTTATTTCTTCATTGCTCTAAGACCAAGCATAAGTTTGATCTTTTGTGTTCAAGACTGACTTACTTGAGGCGAAAATTTTTAGATACTGTGGAAGTACTTCCAAATATTGAGCATGAGAATGACCTGGTAAAAGTGCAGATTCA
|
CTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACGAGGCGGGATCGACTGGGCTCTTAGCGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGTGCGTTGTGAAATAGAAATGTAAACTCAGAATTGCTAGCTTCATAGCTTTTGCGGTGGACCACTGTGTTTTTCTGAATTATTTACGTTCTGTTAGTTATTTCTTCATTGCTCTAAGACCAAGCATAAGTTTGATCTTTTGTGTTCAAGACTGACTTACTTGAGGCGAAAATTTTTAGATACTGTGGAAGTACTTCCAAATATTGAGCATGAGAATGACCTGGTAAAAGTGCAGATTCANN
|
pathogenic
| 311,003 |
Variant chromosome 20, position 3889672, gene PANK2: benign or pathogenic? Disease(s)?
|
pathogenic; ['Pigmentary_pallidal_degeneration']
|
TGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACGAGGCGGGATCGACTGGGCTCTTACAGCGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGTGCGTTGTGAAATAGAAATGTAAACTCAGAATTGCTAGCTTCATAGCTTTTGCGGTGGACCACTGTGTTTTTCTGAATTATTTACGTTCTGTTAGTTATTTCTTCATTGCTCTAAGACCAAGCATAAGTTTGATCTTTTGTGTTCAAGACTGACTTACTTGAGGCGAAAATTTTTAGATACTGTGGAAGTACTTCCAAATATTGAGCATGAGAATGACCTGGTAAAAGTGCAGATTCAGTGG
|
TGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACGAGGCGGGATCGACTGGGCTCTTACAGGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGTGCGTTGTGAAATAGAAATGTAAACTCAGAATTGCTAGCTTCATAGCTTTTGCGGTGGACCACTGTGTTTTTCTGAATTATTTACGTTCTGTTAGTTATTTCTTCATTGCTCTAAGACCAAGCATAAGTTTGATCTTTTGTGTTCAAGACTGACTTACTTGAGGCGAAAATTTTTAGATACTGTGGAAGTACTTCCAAATATTGAGCATGAGAATGACCTGGTAAAAGTGCAGATTCAGTGGN
|
pathogenic
| 311,005 |
Variant on chromosome 20, at position 3908117, affecting PANK2 (pantothenate kinase 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Pigmentary_pallidal_degeneration']
|
ACAGATGCTTTTTGACTTACGATGTTTATGCTACATTCCATAAACCCATCAGAAGTTCAAAATACTGTAAATCAGGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAAAAAGAGAAAAAGAAAATACTGTAAGTCAAAATGCATTTAATATACCCAGCCTATTGAACATCATAGCTTAGCCAAACCTACCTTAAATGTGCTTAGAACCCTTATATTAGCCTACAGTTGGGCAAAATCTTCTAGCATAAAGCTAGATGATTTAATAATGAATAATATAAAAGATAATTATTTTACAATAAAATGTCGAATATCTTGTAATTTATTGAATACTGTACTAAAAATAAAAAAAACAATAAATACTTGAAGTAGAGTTTCTACTGAATGCTTATTGCACCATTGTAAATTTGAAAAATCATTACTTTGAGCCCTCATTAAATTGGGACCTTCCATATGTCTGTGCAGTCCACTTTGATCCAATCTCTTCAGGCCTTTTTTTTCTTTGAGACGGAGTGTCACTCTGTCGCCAGGCTAGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCTTCTGCCTCATGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCACGCCACCACAGCCAGCTGATTTCTGTATTTTTAGTAGAGATAGTTTCACCATGTTGGCCAGGATGATCTTGGTCTCTTGACCTTGTGATTCACCTGCCTTAGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTGAAGCAGTTCTGGTTTAGATTTCCTGAGTAGCTGGTACTACAGGTGCACGTCACCATGCCTGGCTAATTTTTGTTTTAGTAGAGATGGGGTTTTACCATATTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGAAATTACAGGTGTGAGCCACTGCGCTTGGCCTAAAGGACATTTTGGGAACCGGTGTTAATGTCTATTGAAACCTTTTATTTTTGGAATATCAGATTTTGAAAGATAAATTGACCATTGGAGGTTATATGTTACATAGGTTTGGGAATTTCCTGTTTCTAGTTTGCTGCTAAACCAGAACTCTGAAGTCTCAATGTTTTTTTTTAAGCCGATAGGAAAGAGAGATTTTCATTCTGAATCTTTGTTTTTCACAGTTGAGGCTTACGAGTAGTCATCTTGTTATTTTTAAAACACTTCATAGTGCGGTTTGCGCTTGTCTGACAGAATGGTTGGGTTGGCTCAATACTTTGATATTTTTCTTTTTCGTCTTTGCCGTAGTATTTTTTTTTTAAGTTATGCATCTAAATCAAGACAGAATCACATTTCTTTGCCCCAAAACCCTTTTGCCTAGAATTATGTTCTTTGGAAACCCTAGCGTTTGAAATAAGTTGCTACTGTGGTAAGGGTAAATTTAATTTTCAGAAAAAAGCTGTTCTGACTTATTTTTCTTCCCCATTTAGTTTTTCCATGGTTTGGACTGGATATCGGTGGAACTCTGGTCAAGCTGGTATATTTTGAACCCAAAGACATCACTGCTGAAGAAGAAGAGGAAGAAGTGGAAAGTCTTAAAAGCATTCGGAAGTACCTGACCTCCAATGTGGCTTATGGGTCTACAGGCATTCGGGACGTGCACCTCGAGCTGAAGGACCTGACTCTGTGTGGACGCAAAGGCAATCTGCACTTTATACGCTTTCCCACTCATGACATGCCTGCTTTTATTCAAATGGGCAGAGATAAAAACTTCTCGAGTCTCCACACTGTCTTTTGTGCCACTGGAGGTGGAGCGTACAAATTTGAGCAGGATTTTCTCACAGTATGCATTTTTTAGCTTATATACAATTTATGGTAATTTGATTGTTAAAAATAATGCCAGTAGCAAGTGGTGAAATAATTTCCATCTCTAATGGAACTTGAATTTTCTTGAGTCAAATGAAGATTAAAGGTACGCTAGTGATAGGAGTTGGCCATCTAGAGGTGGTTGTCTAGTTCAGATGTATGGACGACAATCAGAACCACTAAAAGGGTAGCATTTTATTGCTCCTTTAGTATGAAAAATTAGGGCATCTGCTATACGTTGAGGAAGAAACTACCTAAAAGGAACATCATTAGATCATGAACAATGAGATTGAAATATAATTAAAATCATTTCATGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCA
|
ACAGATGCTTTTTGACTTACGATGTTTATGCTACATTCCATAAACCCATCAGAAGTTCAAAATACTGTAAATCAGGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAAAAAGAGAAAAAGAAAATACTGTAAGTCAAAATGCATTTAATATACCCAGCCTATTGAACATCATAGCTTAGCCAAACCTACCTTAAATGTGCTTAGAACCCTTATATTAGCCTACAGTTGGGCAAAATCTTCTAGCATAAAGCTAGATGATTTAATAATGAATAATATAAAAGATAATTATTTTACAATAAAATGTCGAATATCTTGTAATTTATTGAATACTGTACTAAAAATAAAAAAAACAATAAATACTTGAAGTAGAGTTTCTACTGAATGCTTATTGCACCATTGTAAATTTGAAAAATCATTACTTTGAGCCCTCATTAAATTGGGACCTTCCATATGTCTGTGCAGTCCACTTTGATCCAATCTCTTCAGGCCTTTTTTTTCTTTGAGACGGAGTGTCACTCTGTCGCCAGGCTAGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCTTCTGCCTCATGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCACGCCACCACAGCCAGCTGATTTCTGTATTTTTAGTAGAGATAGTTTCACCATGTTGGCCAGGATGATCTTGGTCTCTTGACCTTGTGATTCACCTGCCTTAGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTGAAGCAGTTCTGGTTTAGATTTCCTGAGTAGCTGGTACTACAGGTGCACGTCACCATGCCTGGCTAATTTTTGTTTTAGTAGAGATGGGGTTTTACCATATTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGAAATTACAGGTGTGAGCCACTGCGCTTGGCCTAAAGGACATTTTGGGAACCGGTGTTAATGTCTATTGAAACCTTTTATTTTTGGAATATCAGATTTTGAAAGATAAATTGACCATTGGAGGTTATATGTTACATAGGTTTGGGAATTTCCTGTTTCTAGTTTGCTGCTAAACCAGAACTCTGAAGTCTCAATGTTTTTTTTTAAGCCGATAGGAAAGAGAGATTTTCATTCTGAATCTTTGTTTTTCACAGTTGAGGCTTACGAGTAGTCATCTTGTTATTTTTAAAACACTTCATAGTGCGGTTTGCGCTTGTCTGACAGAATGGTTGGGTTGGCTCAATACTTTGATATTTTTCTTTTTCGTCTTTGCCGTAGTATTTTTTTTTTAAGTTATGCATCTAAATCAAGACAGAATCACATTTCTTTGCCCCAAAACCCTTTTGCCTAGAATTATGTTCTTTGGAAACCCTAGCGTTTGAAATAAGTTGCTACTGTGGTAAGGGTAAATTTAATTTTCAGAAAAAAGCTGTTCTGACTTATTTTTCTTCCCCATTTAGTTTTTCCATGGTTTGGACTGGATATCGGTGGAACTCTGGTCAAGCTGGTATATTTTGAACCCAAAGACATCACTGCTGAAGAAGAAGAGGAAGAAGTGGAAAGTCTTAAAAGCATTCGGAAGTACCTGACCTCCAATGTGGCTTATGGGTCTACAGGCATTCGGGACGTGCACCTCGAGCTGAAGGACCTGACTGTGTGGACGCAAAGGCAATCTGCACTTTATACGCTTTCCCACTCATGACATGCCTGCTTTTATTCAAATGGGCAGAGATAAAAACTTCTCGAGTCTCCACACTGTCTTTTGTGCCACTGGAGGTGGAGCGTACAAATTTGAGCAGGATTTTCTCACAGTATGCATTTTTTAGCTTATATACAATTTATGGTAATTTGATTGTTAAAAATAATGCCAGTAGCAAGTGGTGAAATAATTTCCATCTCTAATGGAACTTGAATTTTCTTGAGTCAAATGAAGATTAAAGGTACGCTAGTGATAGGAGTTGGCCATCTAGAGGTGGTTGTCTAGTTCAGATGTATGGACGACAATCAGAACCACTAAAAGGGTAGCATTTTATTGCTCCTTTAGTATGAAAAATTAGGGCATCTGCTATACGTTGAGGAAGAAACTACCTAAAAGGAACATCATTAGATCATGAACAATGAGATTGAAATATAATTAAAATCATTTCATGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCANN
|
pathogenic
| 311,019 |
Evaluate this variant at chromosome 20, position 3908120, gene PANK2 (pantothenate kinase 2): benign or pathogenic? If pathogenic, what are the disease connection(s)?
|
pathogenic; ['Pigmentary_pallidal_degeneration']
|
GATGCTTTTTGACTTACGATGTTTATGCTACATTCCATAAACCCATCAGAAGTTCAAAATACTGTAAATCAGGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAAAAAGAGAAAAAGAAAATACTGTAAGTCAAAATGCATTTAATATACCCAGCCTATTGAACATCATAGCTTAGCCAAACCTACCTTAAATGTGCTTAGAACCCTTATATTAGCCTACAGTTGGGCAAAATCTTCTAGCATAAAGCTAGATGATTTAATAATGAATAATATAAAAGATAATTATTTTACAATAAAATGTCGAATATCTTGTAATTTATTGAATACTGTACTAAAAATAAAAAAAACAATAAATACTTGAAGTAGAGTTTCTACTGAATGCTTATTGCACCATTGTAAATTTGAAAAATCATTACTTTGAGCCCTCATTAAATTGGGACCTTCCATATGTCTGTGCAGTCCACTTTGATCCAATCTCTTCAGGCCTTTTTTTTCTTTGAGACGGAGTGTCACTCTGTCGCCAGGCTAGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCTTCTGCCTCATGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCACGCCACCACAGCCAGCTGATTTCTGTATTTTTAGTAGAGATAGTTTCACCATGTTGGCCAGGATGATCTTGGTCTCTTGACCTTGTGATTCACCTGCCTTAGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTGAAGCAGTTCTGGTTTAGATTTCCTGAGTAGCTGGTACTACAGGTGCACGTCACCATGCCTGGCTAATTTTTGTTTTAGTAGAGATGGGGTTTTACCATATTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGAAATTACAGGTGTGAGCCACTGCGCTTGGCCTAAAGGACATTTTGGGAACCGGTGTTAATGTCTATTGAAACCTTTTATTTTTGGAATATCAGATTTTGAAAGATAAATTGACCATTGGAGGTTATATGTTACATAGGTTTGGGAATTTCCTGTTTCTAGTTTGCTGCTAAACCAGAACTCTGAAGTCTCAATGTTTTTTTTTAAGCCGATAGGAAAGAGAGATTTTCATTCTGAATCTTTGTTTTTCACAGTTGAGGCTTACGAGTAGTCATCTTGTTATTTTTAAAACACTTCATAGTGCGGTTTGCGCTTGTCTGACAGAATGGTTGGGTTGGCTCAATACTTTGATATTTTTCTTTTTCGTCTTTGCCGTAGTATTTTTTTTTTAAGTTATGCATCTAAATCAAGACAGAATCACATTTCTTTGCCCCAAAACCCTTTTGCCTAGAATTATGTTCTTTGGAAACCCTAGCGTTTGAAATAAGTTGCTACTGTGGTAAGGGTAAATTTAATTTTCAGAAAAAAGCTGTTCTGACTTATTTTTCTTCCCCATTTAGTTTTTCCATGGTTTGGACTGGATATCGGTGGAACTCTGGTCAAGCTGGTATATTTTGAACCCAAAGACATCACTGCTGAAGAAGAAGAGGAAGAAGTGGAAAGTCTTAAAAGCATTCGGAAGTACCTGACCTCCAATGTGGCTTATGGGTCTACAGGCATTCGGGACGTGCACCTCGAGCTGAAGGACCTGACTCTGTGTGGACGCAAAGGCAATCTGCACTTTATACGCTTTCCCACTCATGACATGCCTGCTTTTATTCAAATGGGCAGAGATAAAAACTTCTCGAGTCTCCACACTGTCTTTTGTGCCACTGGAGGTGGAGCGTACAAATTTGAGCAGGATTTTCTCACAGTATGCATTTTTTAGCTTATATACAATTTATGGTAATTTGATTGTTAAAAATAATGCCAGTAGCAAGTGGTGAAATAATTTCCATCTCTAATGGAACTTGAATTTTCTTGAGTCAAATGAAGATTAAAGGTACGCTAGTGATAGGAGTTGGCCATCTAGAGGTGGTTGTCTAGTTCAGATGTATGGACGACAATCAGAACCACTAAAAGGGTAGCATTTTATTGCTCCTTTAGTATGAAAAATTAGGGCATCTGCTATACGTTGAGGAAGAAACTACCTAAAAGGAACATCATTAGATCATGAACAATGAGATTGAAATATAATTAAAATCATTTCATGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAG
|
GATGCTTTTTGACTTACGATGTTTATGCTACATTCCATAAACCCATCAGAAGTTCAAAATACTGTAAATCAGGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAAAAAGAGAAAAAGAAAATACTGTAAGTCAAAATGCATTTAATATACCCAGCCTATTGAACATCATAGCTTAGCCAAACCTACCTTAAATGTGCTTAGAACCCTTATATTAGCCTACAGTTGGGCAAAATCTTCTAGCATAAAGCTAGATGATTTAATAATGAATAATATAAAAGATAATTATTTTACAATAAAATGTCGAATATCTTGTAATTTATTGAATACTGTACTAAAAATAAAAAAAACAATAAATACTTGAAGTAGAGTTTCTACTGAATGCTTATTGCACCATTGTAAATTTGAAAAATCATTACTTTGAGCCCTCATTAAATTGGGACCTTCCATATGTCTGTGCAGTCCACTTTGATCCAATCTCTTCAGGCCTTTTTTTTCTTTGAGACGGAGTGTCACTCTGTCGCCAGGCTAGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCTTCTGCCTCATGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCACGCCACCACAGCCAGCTGATTTCTGTATTTTTAGTAGAGATAGTTTCACCATGTTGGCCAGGATGATCTTGGTCTCTTGACCTTGTGATTCACCTGCCTTAGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTGAAGCAGTTCTGGTTTAGATTTCCTGAGTAGCTGGTACTACAGGTGCACGTCACCATGCCTGGCTAATTTTTGTTTTAGTAGAGATGGGGTTTTACCATATTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGAAATTACAGGTGTGAGCCACTGCGCTTGGCCTAAAGGACATTTTGGGAACCGGTGTTAATGTCTATTGAAACCTTTTATTTTTGGAATATCAGATTTTGAAAGATAAATTGACCATTGGAGGTTATATGTTACATAGGTTTGGGAATTTCCTGTTTCTAGTTTGCTGCTAAACCAGAACTCTGAAGTCTCAATGTTTTTTTTTAAGCCGATAGGAAAGAGAGATTTTCATTCTGAATCTTTGTTTTTCACAGTTGAGGCTTACGAGTAGTCATCTTGTTATTTTTAAAACACTTCATAGTGCGGTTTGCGCTTGTCTGACAGAATGGTTGGGTTGGCTCAATACTTTGATATTTTTCTTTTTCGTCTTTGCCGTAGTATTTTTTTTTTAAGTTATGCATCTAAATCAAGACAGAATCACATTTCTTTGCCCCAAAACCCTTTTGCCTAGAATTATGTTCTTTGGAAACCCTAGCGTTTGAAATAAGTTGCTACTGTGGTAAGGGTAAATTTAATTTTCAGAAAAAAGCTGTTCTGACTTATTTTTCTTCCCCATTTAGTTTTTCCATGGTTTGGACTGGATATCGGTGGAACTCTGGTCAAGCTGGTATATTTTGAACCCAAAGACATCACTGCTGAAGAAGAAGAGGAAGAAGTGGAAAGTCTTAAAAGCATTCGGAAGTACCTGACCTCCAATGTGGCTTATGGGTCTACAGGCATTCGGGACGTGCACCTCGAGCTGAAGGACCTGACTCTGTGGACGCAAAGGCAATCTGCACTTTATACGCTTTCCCACTCATGACATGCCTGCTTTTATTCAAATGGGCAGAGATAAAAACTTCTCGAGTCTCCACACTGTCTTTTGTGCCACTGGAGGTGGAGCGTACAAATTTGAGCAGGATTTTCTCACAGTATGCATTTTTTAGCTTATATACAATTTATGGTAATTTGATTGTTAAAAATAATGCCAGTAGCAAGTGGTGAAATAATTTCCATCTCTAATGGAACTTGAATTTTCTTGAGTCAAATGAAGATTAAAGGTACGCTAGTGATAGGAGTTGGCCATCTAGAGGTGGTTGTCTAGTTCAGATGTATGGACGACAATCAGAACCACTAAAAGGGTAGCATTTTATTGCTCCTTTAGTATGAAAAATTAGGGCATCTGCTATACGTTGAGGAAGAAACTACCTAAAAGGAACATCATTAGATCATGAACAATGAGATTGAAATATAATTAAAATCATTTCATGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGNN
|
pathogenic
| 311,020 |
Considering the genetic mutation at chromosome 20, position 3910677, impacting PANK2 (pantothenate kinase 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
|
pathogenic; ['Pigmentary_pallidal_degeneration']
|
TTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGGTTTCTGATAGTGCTGTGGCCTGAGCTTGGTATCAGCCCCATTGTCCCTGTAAGCAGAGATCTGAATTTCTGTTTGAAGGTTGATAAATGCTGTGGTTTTTTTTTTTTGTTTTTTTTGTTTTTTTTTTGGTCACACTTATTCAGCTGCTGCAGTAGTTTCTATGTAGAGTGTATTTGGGTCTGTAGTAGCAGGAGTCTGTCTCAGCACTGTGTCCCTAGGTTTGCTCCTAAATCTGTTCTGTAAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGG
|
TTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGGTTTCTGATAGTGCTGTGGCCTGAGCTTGGTATCAGCCCCATTGTCCCTGTAAGCAGAGATCTGAATTTCTGTTTGAAGGTTGATAAATGCTGTGGTTTTTTTTTTTTGTTTTTTTTGTTTTTTTTTTGGTCACACTTATTCAGCTGCTGCAGTAGTTTCTATGTAGAGTGTATTTGGGTCTGTAGTAGCAGGAGTCTGTCTCAGCACTGTGTCCCTAGGTTTGCTCCTAAATCTGTTCTGTAAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGGNNNN
|
pathogenic
| 311,032 |
Is the genetic change at chromosome 20, position 3910770, within gene PANK2 (pantothenate kinase 2) benign or pathogenic? Name the disease(s) if pathogenic.
|
pathogenic; ['Pigmentary_pallidal_degeneration']
|
AAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGGTTTCTGATAGTGCTGTGGCCTGAGCTTGGTATCAGCCCCATTGTCCCTGTAAGCAGAGATCTGAATTTCTGTTTGAAGGTTGATAAATGCTGTGGTTTTTTTTTTTTGTTTTTTTTGTTTTTTTTTTGGTCACACTTATTCAGCTGCTGCAGTAGTTTCTATGTAGAGTGTATTTGGGTCTGTAGTAGCAGGAGTCTGTCTCAGCACTGTGTCCCTAGGTTTGCTCCTAAATCTGTTCTGTAAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGGGCAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGG
|
AAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGGTTTCTGATAGTGCTGTGGCCTGAGCTTGGTATCAGCCCCATTGTCCCTGTAAGCAGAGATCTGAATTTCTGTTTGAAGGTTGATAAATGCTGTGGTTTTTTTTTTTTGTTTTTTTTGTTTTTTTTTTGGTCACACTTATTCAGCTGCTGCAGTAGTTTCTATGTAGAGTGTATTTGGGTCTGTAGTAGCAGGAGTCTGTCTCAGCACTGTGTCCCTAGGTTTGCTCCTAAATCTGTTCTGTAAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGGGCAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGNN
|
pathogenic
| 311,033 |
For chromosome 20, position 3912471, gene PANK2 (pantothenate kinase 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
pathogenic; ['Pigmentary_pallidal_degeneration']
|
GCTCCTAAATCTGTTCTGTAAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGGGCAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGTGCGCGCCTGTAGACCCAGGTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGTGGAGGGTGCGGTGAGCTCCAGCCTAGGTAACGGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACATAAAATAATAATATTGGGCATATTTTTTAAAAAAGCTCTATTGAGATATAATTTACGTACTATAAAGTCAGCTGTTTGAAGCGTACAATTTAGTGGTTTCTAGTATATTTACAGGATTGTGCAACCATCACTGTAATCCCAATTTTAGGACATTTTTATCATCCTAGAAAGAAACCTTGTGTTCATTAGCTACGACTCTCCATTCCCCCCACAGCCCCTGCCAAACAGTAATTTATTTTCAATGTAGGTTTGCCTCTTCTGAACATTTCATATAAGTGGTATCATACAGTATATGATCTTTTGTGATTACTTCTTCATATAGCATATGTTTTCAAACATTCACATTACAGTGTGAATCAGTACTTTATTCCTTTTTATTGCCAAATAATATTTCTTTTTTCTGAGACGGCGTTTTACTCTTTTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCACAACCCCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCAAGCCTGGCTAATTTTGTATTTTTTAGTAGGGAAAGGATTTCTCCATGTTGGCCGGGCAGGTCTCGAACTCAGGTGATCTGCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGCGCCCGGCTGCCACATAATATTTCATTACGTGGATAATACTACATTTTATCCATTTATTGGTTGATGAACATTTGGGTTGTTTCCATTTTTTGGTTATAATGTTGAACATTTATATGTAAGTCTTTGTATGTATGCACACACACACACACATATATATATATATATTTTTTTTTTTTTTTTGAGACGGAGTCTTGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTAGCTCCTGGGTTCATGCCATTCTTCTGCTTCAGCCTTCCAAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCGGCTATTTTTTTTGTATTTTTAGCAGAGATGGGGTTTCACTATGTTGGCCAGGATGGTCTCGATCTGCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGCACATATATTTCTAATTCTATTGGGTATATACCTGAGAGTAGAATTGCTGAGTCATATGGTCACTTAATGTTTAATCTTTTGAGGAACTGCTACACTGTTTTCCAAAGTGGCAGTCCCATTTTACAATCTTAGCAGTTTATGAGCGTTTATATTTCTTGTCAACATTTGTTATTATCTGTCTTCTTGGTTTTAGTTGTCTTAATAGGAGTGAAGTGATATCTTGTAGCGTTTTTATTTTTTAAGAGGCAGGGTCTCGCCCTGTTGCCCACATGAGAGTGCAGTGTTGCGATCATAACTGGCTGCAGCCTGTGTCTCCTGGGCTCAGGTGTTTCTCCTGCCTCAGTCTCCTGAGTCACTAGGACTACAGCTGTGCACTGCCTTGCCTAATTTTTTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCTAG
|
GCTCCTAAATCTGTTCTGTAAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTCTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGGGCAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGTGCGCGCCTGTAGACCCAGGTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGTGGAGGGTGCGGTGAGCTCCAGCCTAGGTAACGGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACATAAAATAATAATATTGGGCATATTTTTTAAAAAAGCTCTATTGAGATATAATTTACGTACTATAAAGTCAGCTGTTTGAAGCGTACAATTTAGTGGTTTCTAGTATATTTACAGGATTGTGCAACCATCACTGTAATCCCAATTTTAGGACATTTTTATCATCCTAGAAAGAAACCTTGTGTTCATTAGCTACGACTCTCCATTCCCCCCACAGCCCCTGCCAAACAGTAATTTATTTTCAATGTAGGTTTGCCTCTTCTGAACATTTCATATAAGTGGTATCATACAGTATATGATCTTTTGTGATTACTTCTTCATATAGCATATGTTTTCAAACATTCACATTACAGTGTGAATCAGTACTTTATTCCTTTTTATTGCCAAATAATATTTCTTTTTTCTGAGACGGCGTTTTACTCTTTTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCACAACCCCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCAAGCCTGGCTAATTTTGTATTTTTTAGTAGGGAAAGGATTTCTCCATGTTGGCCGGGCAGGTCTCGAACTCAGGTGATCTGCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGCGCCCGGCTGCCACATAATATTTCATTACGTGGATAATACTACATTTTATCCATTTATTGGTTGATGAACATTTGGGTTGTTTCCATTTTTTGGTTATAATGTTGAACATTTATATGTAAGTCTTTGTATGTATGCACACACACACACACATATATATATATATATTTTTTTTTTTTTTTTGAGACGGAGTCTTGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTAGCTCCTGGGTTCATGCCATTCTTCTGCTTCAGCCTTCCAAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCGGCTATTTTTTTTGTATTTTTAGCAGAGATGGGGTTTCACTATGTTGGCCAGGATGGTCTCGATCTGCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGCACATATATTTCTAATTCTATTGGGTATATACCTGAGAGTAGAATTGCTGAGTCATATGGTCACTTAATGTTTAATCTTTTGAGGAACTGCTACACTGTTTTCCAAAGTGGCAGTCCCATTTTACAATCTTAGCAGTTTATGAGCGTTTATATTTCTTGTCAACATTTGTTATTATCTGTCTTCTTGGTTTTAGTTGTCTTAATAGGAGTGAAGTGATATCTTGTAGCGTTTTTATTTTTTAAGAGGCAGGGTCTCGCCCTGTTGCCCACATGAGAGTGCAGTGTTGCGATCATAACTGGCTGCAGCCTGTGTCTCCTGGGCTCAGGTGTTTCTCCTGCCTCAGTCTCCTGAGTCACTAGGACTACAGCTGTGCACTGCCTTGCCTAATTTTTTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCT
|
pathogenic
| 311,037 |
A genetic variant at chromosome 20, position 3912490, affecting gene PANK2 (pantothenate kinase 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
|
pathogenic; ['Pigmentary_pallidal_degeneration']
|
AAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGGGCAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGTGCGCGCCTGTAGACCCAGGTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGTGGAGGGTGCGGTGAGCTCCAGCCTAGGTAACGGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACATAAAATAATAATATTGGGCATATTTTTTAAAAAAGCTCTATTGAGATATAATTTACGTACTATAAAGTCAGCTGTTTGAAGCGTACAATTTAGTGGTTTCTAGTATATTTACAGGATTGTGCAACCATCACTGTAATCCCAATTTTAGGACATTTTTATCATCCTAGAAAGAAACCTTGTGTTCATTAGCTACGACTCTCCATTCCCCCCACAGCCCCTGCCAAACAGTAATTTATTTTCAATGTAGGTTTGCCTCTTCTGAACATTTCATATAAGTGGTATCATACAGTATATGATCTTTTGTGATTACTTCTTCATATAGCATATGTTTTCAAACATTCACATTACAGTGTGAATCAGTACTTTATTCCTTTTTATTGCCAAATAATATTTCTTTTTTCTGAGACGGCGTTTTACTCTTTTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCACAACCCCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCAAGCCTGGCTAATTTTGTATTTTTTAGTAGGGAAAGGATTTCTCCATGTTGGCCGGGCAGGTCTCGAACTCAGGTGATCTGCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGCGCCCGGCTGCCACATAATATTTCATTACGTGGATAATACTACATTTTATCCATTTATTGGTTGATGAACATTTGGGTTGTTTCCATTTTTTGGTTATAATGTTGAACATTTATATGTAAGTCTTTGTATGTATGCACACACACACACACATATATATATATATATTTTTTTTTTTTTTTTGAGACGGAGTCTTGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTAGCTCCTGGGTTCATGCCATTCTTCTGCTTCAGCCTTCCAAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCGGCTATTTTTTTTGTATTTTTAGCAGAGATGGGGTTTCACTATGTTGGCCAGGATGGTCTCGATCTGCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGCACATATATTTCTAATTCTATTGGGTATATACCTGAGAGTAGAATTGCTGAGTCATATGGTCACTTAATGTTTAATCTTTTGAGGAACTGCTACACTGTTTTCCAAAGTGGCAGTCCCATTTTACAATCTTAGCAGTTTATGAGCGTTTATATTTCTTGTCAACATTTGTTATTATCTGTCTTCTTGGTTTTAGTTGTCTTAATAGGAGTGAAGTGATATCTTGTAGCGTTTTTATTTTTTAAGAGGCAGGGTCTCGCCCTGTTGCCCACATGAGAGTGCAGTGTTGCGATCATAACTGGCTGCAGCCTGTGTCTCCTGGGCTCAGGTGTTTCTCCTGCCTCAGTCTCCTGAGTCACTAGGACTACAGCTGTGCACTGCCTTGCCTAATTTTTTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCTAGGCTGTCCTGGCCTCAAGTG
|
AAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGGGCAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGTGCGCGCCTGTAGACCCAGGTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGTGGAGGGTGCGGTGAGCTCCAGCCTAGGTAACGGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACATAAAATAATAATATTGGGCATATTTTTTAAAAAAGCTCTATTGAGATATAATTTACGTACTATAAAGTCAGCTGTTTGAAGCGTACAATTTAGTGGTTTCTAGTATATTTACAGGATTGTGCAACCATCACTGTAATCCCAATTTTAGGACATTTTTATCATCCTAGAAAGAAACCTTGTGTTCATTAGCTACGACTCTCCATTCCCCCCACAGCCCCTGCCAAACAGTAATTTATTTTCAATGTAGGTTTGCCTCTTCTGAACATTTCATATAAGTGGTATCATACAGTATATGATCTTTTGTGATTACTTCTTCATATAGCATATGTTTTCAAACATTCACATTACAGTGTGAATCAGTACTTTATTCCTTTTTATTGCCAAATAATATTTCTTTTTTCTGAGACGGCGTTTTACTCTTTTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCACAACCCCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCAAGCCTGGCTAATTTTGTATTTTTTAGTAGGGAAAGGATTTCTCCATGTTGGCCGGGCAGGTCTCGAACTCAGGTGATCTGCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGCGCCCGGCTGCCACATAATATTTCATTACGTGGATAATACTACATTTTATCCATTTATTGGTTGATGAACATTTGGGTTGTTTCCATTTTTTGGTTATAATGTTGAACATTTATATGTAAGTCTTTGTATGTATGCACACACACACACACATATATATATATATATTTTTTTTTTTTTTTTGAGACGGAGTCTTGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTAGCTCCTGGGTTCATGCCATTCTTCTGCTTCAGCCTTCCAAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCGGCTATTTTTTTTGTATTTTTAGCAGAGATGGGGTTTCACTATGTTGGCCAGGATGGTCTCGATCTGCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGCACATATATTTCTAATTCTATTGGGTATATACCTGAGAGTAGAATTGCTGAGTCATATGGTCACTTAATGTTTAATCTTTTGAGGAACTGCTACACTGTTTTCCAAAGTGGCAGTCCCATTTTACAATCTTAGCAGTTTATGAGCGTTTATATTTCTTGTCAACATTTGTTATTATCTGTCTTCTTGGTTTTAGTTGTCTTAATAGGAGTGAAGTGATATCTTGTAGCGTTTTTATTTTTTAAGAGGCAGGGTCTCGCCCTGTTGCCCACATGAGAGTGCAGTGTTGCGATCATAACTGGCTGCAGCCTGTGTCTCCTGGGCTCAGGTGTTTCTCCTGCCTCAGTCTCCTGAGTCACTAGGACTACAGCTGTGCACTGCCTTGCCTAATTTTTTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCTAGGCTGTCCTGGCCTCAAGTGNNN
|
pathogenic
| 311,038 |
Evaluate the clinical significance of the mutation at chromosome 20, position 3916912 in gene PANK2 (pantothenate kinase 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
benign
|
CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCCGAACATCTTTTCATGTGTTTACTGGCCATCTGTCTGTAGTCTTTGGATAAATGTCTGCTGAAGTCTATTGCTAAGTTTTTAGTTGGATTGTCTTTTTATTATTGAGTTCTGGATACAAGTCCCTTATTAGATACATAATTCGCAAATGTTTTGTCCCATTTTGTTAGTTGTCTTTTCACTTCCTTGATGGTGTCCTTTGCAGCATGGAAATTTTAAATTTTGATGAAGTTAATCTTATCTATCTTCTGTCACTTGTGCTTTTGGTGTTATGTGTAAGAAATCTAAGATCATGAAGAATTGCCTAATTTAAGATCATGAAGAATTGTTTATTTTCTTTTAAGAGTTTTATAGTTTTAGCTCATATATATATATGTGTGTGTGTGTATTTTTTTCTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTGCGTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGCCAGTTTTAGCTCTTATATTTAGCTCTTATATTTGATCCATTTTGAGTAAGTTTTTGTGTATGGTGTGAGGTAGAGCTCCAAGTTCATTTCTTTTTGCGTGTGGATATCCAGTTGTCCTAGTACCATTTGTTGAAAAGATGATTCTTTCCCTGTTAAATTCTCTTGGCCCCTTTGTCAAAAATTAGTTGACCATAGATGTTTGGGTTTACTCCTGGACTCTTAAGTTATGTTCCATTGATATATATGTCTGTTTTTATACCAGTACCATACTGCCTTGATACTGTAGCGTTGTATTAAGTTCTGAAGTAAGAAAGTGTGAGTCATCCAACTTGTTCTTTTTTCGAGATTATTTTGGCTATTCTGGGTACCTTGAGAATATGAATTGTAGGGTTAACTTGGCAAGGTCTGTAAATAAGACAACTGGGATTTTAATAGAGATTACATTGAATCTTTTGGCCATCCTAATACAAAGTCTTCTGATCCAAAAAGATGGAATGTCTTCCCATTGATTTAGATCTTTGCTTTCTTTCAGCAGTGTTTTGTAGATTTTATTGTACAGGTGTTAATACTTTTGTTAGATATATCCGTAAGTGTTTTATTCTCTAATGCTATTATAAATGAAATCATTGTCTCCATTTTGAGATCGTTTAGAAGTACAATTGTTTTTCGTATATTGGGGCACATGGCTTTTACTAATAGAAAAATCATATGTATACATGCTTGTTTACTAAGTTTTAGGCACTTGGTCAATGCTGTTGATTTTCTGTTTGTAACATTTGCTCGTTGGTCATCACTTCCTTTTCTGATTGGAAAATTATTGTAGCAGTTCTGCTGAGCATGTACTTTGAAGTACTTTATCTTCTAGGGAAACCTGAAATTCTTAAGCAGCTCACTCTGGGACTCAGCTGTCTGTGCTTTACTCTGCTCTGATAGAGCAGTTTACCAGATGTGCATGTGGCCATCTGAGTGGAACAGCTGTGCAGTTGAGATGAATTGCTGTTAGAGGTGTTGTCCTGGAACTGTCTGGTTGCAGGAGCAATGGTGCCTTCCAGTGCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTG
|
CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCCGAACATCTTTTCATGTGTTTACTGGCCATCTGTCTGTAGTCTTTGGATAAATGTCTGCTGAAGTCTATTGCTAAGTTTTTAGTTGGATTGTCTTTTTATTATTGAGTTCTGGATACAAGTCCCTTATTAGATACATAATTCGCAAATGTTTTGTCCCATTTTGTTAGTTGTCTTTTCACTTCCTTGATGGTGTCCTTTGCAGCATGGAAATTTTAAATTTTGATGAAGTTAATCTTATCTATCTTCTGTCACTTGTGCTTTTGGTGTTATGTGTAAGAAATCTAAGATCATGAAGAATTGCCTAATTTAAGATCATGAAGAATTGTTTATTTTCTTTTAAGAGTTTTATAGTTTTAGCTCATATATATATATGTGTGTGTGTGTATTTTTTTCTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTGCGTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGCCAGTTTTAGCTCTTATATTTAGCTCTTATATTTGATCCATTTTGAGTAAGTTTTTGTGTATGGTGTGAGGTAGAGCTCCAAGTTCATTTCTTTTTGCGTGTGGATATCCAGTTGTCCTAGTACCATTTGTTGAAAAGATGATTCTTTCCCTGTTAAATTCTCTTGGCCCCTTTGTCAAAAATTAGTTGACCATAGATGTTTGGGTTTACTCCTGGACTCTTAAGTTATGTTCCATTGATATATATGTCTGTTTTTATACCAGTACCATACTGCCTTGATACTGTAGCGTTGTATTAAGTTCTGAAGTAAGAAAGTGTGAGTCATCCAACTTGTTCTTTTTTCGAGATTATTTTGGCTATTCTGGGTACCTTGAGAATATGAATTGTAGGGTTAACTTGGCAAGGTCTGTAAATAAGACAACTGGGATTTTAATAGAGATTACATTGAATCTTTTGGCCATCCTAATACAAAGTCTTCTGATCCAAAAAGATGGAATGTCTTCCCATTGATTTAGATCTTTGCTTTCTTTCAGCAGTGTTTTGTAGATTTTATTGTACAGGTGTTAATACTTTTGTTAGATATATCCGTAAGTGTTTTATTCTCTAATGCTATTATAAATGAAATCATTGTCTCCATTTTGAGATCGTTTAGAAGTACAATTGTTTTTCGTATATTGGGGCACATGGCTTTTACTAATAGAAAAATCATATGTATACATGCTTGTTTACTAAGTTTTAGGCACTTGGTCAATGCTGTTGATTTTCTGTTTGTAACATTTGCTCGTTGGTCATCACTTCCTTTTCTGATTGGAAAATTATTGTAGCAGTTCTGCTGAGCATGTACTTTGAAGTACTTTATCTTCTAGGGAAACCTGAAATTCTTAAGCAGCTCACTCTGGGACTCAGCTGTCTGTGCTTTACTCTGCTCTGATAGAGCAGTTTACCAGATGTGCATGTGGCCATCTGAGTGGAACAGCTGTGCAGTTGAGATGAATTGCTGTTAGAGGTGTTGTCCTGGAACTGTCTGGTTGCAGGAGCAATGGTGCCTTCCAGTGCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTCCCCCTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTT
|
benign
| 311,043 |
Is the variant located on chromosome 20 at position 3916912, gene PANK2 (pantothenate kinase 2), benign or pathogenic? If pathogenic, specify the disease(s) linked.
|
benign
|
CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCCGAACATCTTTTCATGTGTTTACTGGCCATCTGTCTGTAGTCTTTGGATAAATGTCTGCTGAAGTCTATTGCTAAGTTTTTAGTTGGATTGTCTTTTTATTATTGAGTTCTGGATACAAGTCCCTTATTAGATACATAATTCGCAAATGTTTTGTCCCATTTTGTTAGTTGTCTTTTCACTTCCTTGATGGTGTCCTTTGCAGCATGGAAATTTTAAATTTTGATGAAGTTAATCTTATCTATCTTCTGTCACTTGTGCTTTTGGTGTTATGTGTAAGAAATCTAAGATCATGAAGAATTGCCTAATTTAAGATCATGAAGAATTGTTTATTTTCTTTTAAGAGTTTTATAGTTTTAGCTCATATATATATATGTGTGTGTGTGTATTTTTTTCTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTGCGTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGCCAGTTTTAGCTCTTATATTTAGCTCTTATATTTGATCCATTTTGAGTAAGTTTTTGTGTATGGTGTGAGGTAGAGCTCCAAGTTCATTTCTTTTTGCGTGTGGATATCCAGTTGTCCTAGTACCATTTGTTGAAAAGATGATTCTTTCCCTGTTAAATTCTCTTGGCCCCTTTGTCAAAAATTAGTTGACCATAGATGTTTGGGTTTACTCCTGGACTCTTAAGTTATGTTCCATTGATATATATGTCTGTTTTTATACCAGTACCATACTGCCTTGATACTGTAGCGTTGTATTAAGTTCTGAAGTAAGAAAGTGTGAGTCATCCAACTTGTTCTTTTTTCGAGATTATTTTGGCTATTCTGGGTACCTTGAGAATATGAATTGTAGGGTTAACTTGGCAAGGTCTGTAAATAAGACAACTGGGATTTTAATAGAGATTACATTGAATCTTTTGGCCATCCTAATACAAAGTCTTCTGATCCAAAAAGATGGAATGTCTTCCCATTGATTTAGATCTTTGCTTTCTTTCAGCAGTGTTTTGTAGATTTTATTGTACAGGTGTTAATACTTTTGTTAGATATATCCGTAAGTGTTTTATTCTCTAATGCTATTATAAATGAAATCATTGTCTCCATTTTGAGATCGTTTAGAAGTACAATTGTTTTTCGTATATTGGGGCACATGGCTTTTACTAATAGAAAAATCATATGTATACATGCTTGTTTACTAAGTTTTAGGCACTTGGTCAATGCTGTTGATTTTCTGTTTGTAACATTTGCTCGTTGGTCATCACTTCCTTTTCTGATTGGAAAATTATTGTAGCAGTTCTGCTGAGCATGTACTTTGAAGTACTTTATCTTCTAGGGAAACCTGAAATTCTTAAGCAGCTCACTCTGGGACTCAGCTGTCTGTGCTTTACTCTGCTCTGATAGAGCAGTTTACCAGATGTGCATGTGGCCATCTGAGTGGAACAGCTGTGCAGTTGAGATGAATTGCTGTTAGAGGTGTTGTCCTGGAACTGTCTGGTTGCAGGAGCAATGGTGCCTTCCAGTGCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTG
|
CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCCGAACATCTTTTCATGTGTTTACTGGCCATCTGTCTGTAGTCTTTGGATAAATGTCTGCTGAAGTCTATTGCTAAGTTTTTAGTTGGATTGTCTTTTTATTATTGAGTTCTGGATACAAGTCCCTTATTAGATACATAATTCGCAAATGTTTTGTCCCATTTTGTTAGTTGTCTTTTCACTTCCTTGATGGTGTCCTTTGCAGCATGGAAATTTTAAATTTTGATGAAGTTAATCTTATCTATCTTCTGTCACTTGTGCTTTTGGTGTTATGTGTAAGAAATCTAAGATCATGAAGAATTGCCTAATTTAAGATCATGAAGAATTGTTTATTTTCTTTTAAGAGTTTTATAGTTTTAGCTCATATATATATATGTGTGTGTGTGTATTTTTTTCTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTGCGTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGCCAGTTTTAGCTCTTATATTTAGCTCTTATATTTGATCCATTTTGAGTAAGTTTTTGTGTATGGTGTGAGGTAGAGCTCCAAGTTCATTTCTTTTTGCGTGTGGATATCCAGTTGTCCTAGTACCATTTGTTGAAAAGATGATTCTTTCCCTGTTAAATTCTCTTGGCCCCTTTGTCAAAAATTAGTTGACCATAGATGTTTGGGTTTACTCCTGGACTCTTAAGTTATGTTCCATTGATATATATGTCTGTTTTTATACCAGTACCATACTGCCTTGATACTGTAGCGTTGTATTAAGTTCTGAAGTAAGAAAGTGTGAGTCATCCAACTTGTTCTTTTTTCGAGATTATTTTGGCTATTCTGGGTACCTTGAGAATATGAATTGTAGGGTTAACTTGGCAAGGTCTGTAAATAAGACAACTGGGATTTTAATAGAGATTACATTGAATCTTTTGGCCATCCTAATACAAAGTCTTCTGATCCAAAAAGATGGAATGTCTTCCCATTGATTTAGATCTTTGCTTTCTTTCAGCAGTGTTTTGTAGATTTTATTGTACAGGTGTTAATACTTTTGTTAGATATATCCGTAAGTGTTTTATTCTCTAATGCTATTATAAATGAAATCATTGTCTCCATTTTGAGATCGTTTAGAAGTACAATTGTTTTTCGTATATTGGGGCACATGGCTTTTACTAATAGAAAAATCATATGTATACATGCTTGTTTACTAAGTTTTAGGCACTTGGTCAATGCTGTTGATTTTCTGTTTGTAACATTTGCTCGTTGGTCATCACTTCCTTTTCTGATTGGAAAATTATTGTAGCAGTTCTGCTGAGCATGTACTTTGAAGTACTTTATCTTCTAGGGAAACCTGAAATTCTTAAGCAGCTCACTCTGGGACTCAGCTGTCTGTGCTTTACTCTGCTCTGATAGAGCAGTTTACCAGATGTGCATGTGGCCATCTGAGTGGAACAGCTGTGCAGTTGAGATGAATTGCTGTTAGAGGTGTTGTCCTGGAACTGTCTGGTTGCAGGAGCAATGGTGCCTTCCAGTGCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTT
|
benign
| 311,044 |
Determine if the mutation at chromosome 20, position 3916955 in gene PANK2 (pantothenate kinase 2) is benign or pathogenic. If pathogenic, what disease(s) is associated?
|
pathogenic; ['Pigmentary_pallidal_degeneration']
|
GCCCGAACATCTTTTCATGTGTTTACTGGCCATCTGTCTGTAGTCTTTGGATAAATGTCTGCTGAAGTCTATTGCTAAGTTTTTAGTTGGATTGTCTTTTTATTATTGAGTTCTGGATACAAGTCCCTTATTAGATACATAATTCGCAAATGTTTTGTCCCATTTTGTTAGTTGTCTTTTCACTTCCTTGATGGTGTCCTTTGCAGCATGGAAATTTTAAATTTTGATGAAGTTAATCTTATCTATCTTCTGTCACTTGTGCTTTTGGTGTTATGTGTAAGAAATCTAAGATCATGAAGAATTGCCTAATTTAAGATCATGAAGAATTGTTTATTTTCTTTTAAGAGTTTTATAGTTTTAGCTCATATATATATATGTGTGTGTGTGTATTTTTTTCTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTGCGTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGCCAGTTTTAGCTCTTATATTTAGCTCTTATATTTGATCCATTTTGAGTAAGTTTTTGTGTATGGTGTGAGGTAGAGCTCCAAGTTCATTTCTTTTTGCGTGTGGATATCCAGTTGTCCTAGTACCATTTGTTGAAAAGATGATTCTTTCCCTGTTAAATTCTCTTGGCCCCTTTGTCAAAAATTAGTTGACCATAGATGTTTGGGTTTACTCCTGGACTCTTAAGTTATGTTCCATTGATATATATGTCTGTTTTTATACCAGTACCATACTGCCTTGATACTGTAGCGTTGTATTAAGTTCTGAAGTAAGAAAGTGTGAGTCATCCAACTTGTTCTTTTTTCGAGATTATTTTGGCTATTCTGGGTACCTTGAGAATATGAATTGTAGGGTTAACTTGGCAAGGTCTGTAAATAAGACAACTGGGATTTTAATAGAGATTACATTGAATCTTTTGGCCATCCTAATACAAAGTCTTCTGATCCAAAAAGATGGAATGTCTTCCCATTGATTTAGATCTTTGCTTTCTTTCAGCAGTGTTTTGTAGATTTTATTGTACAGGTGTTAATACTTTTGTTAGATATATCCGTAAGTGTTTTATTCTCTAATGCTATTATAAATGAAATCATTGTCTCCATTTTGAGATCGTTTAGAAGTACAATTGTTTTTCGTATATTGGGGCACATGGCTTTTACTAATAGAAAAATCATATGTATACATGCTTGTTTACTAAGTTTTAGGCACTTGGTCAATGCTGTTGATTTTCTGTTTGTAACATTTGCTCGTTGGTCATCACTTCCTTTTCTGATTGGAAAATTATTGTAGCAGTTCTGCTGAGCATGTACTTTGAAGTACTTTATCTTCTAGGGAAACCTGAAATTCTTAAGCAGCTCACTCTGGGACTCAGCTGTCTGTGCTTTACTCTGCTCTGATAGAGCAGTTTACCAGATGTGCATGTGGCCATCTGAGTGGAACAGCTGTGCAGTTGAGATGAATTGCTGTTAGAGGTGTTGTCCTGGAACTGTCTGGTTGCAGGAGCAATGGTGCCTTCCAGTGCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGG
|
GCCCGAACATCTTTTCATGTGTTTACTGGCCATCTGTCTGTAGTCTTTGGATAAATGTCTGCTGAAGTCTATTGCTAAGTTTTTAGTTGGATTGTCTTTTTATTATTGAGTTCTGGATACAAGTCCCTTATTAGATACATAATTCGCAAATGTTTTGTCCCATTTTGTTAGTTGTCTTTTCACTTCCTTGATGGTGTCCTTTGCAGCATGGAAATTTTAAATTTTGATGAAGTTAATCTTATCTATCTTCTGTCACTTGTGCTTTTGGTGTTATGTGTAAGAAATCTAAGATCATGAAGAATTGCCTAATTTAAGATCATGAAGAATTGTTTATTTTCTTTTAAGAGTTTTATAGTTTTAGCTCATATATATATATGTGTGTGTGTGTATTTTTTTCTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTGCGTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGCCAGTTTTAGCTCTTATATTTAGCTCTTATATTTGATCCATTTTGAGTAAGTTTTTGTGTATGGTGTGAGGTAGAGCTCCAAGTTCATTTCTTTTTGCGTGTGGATATCCAGTTGTCCTAGTACCATTTGTTGAAAAGATGATTCTTTCCCTGTTAAATTCTCTTGGCCCCTTTGTCAAAAATTAGTTGACCATAGATGTTTGGGTTTACTCCTGGACTCTTAAGTTATGTTCCATTGATATATATGTCTGTTTTTATACCAGTACCATACTGCCTTGATACTGTAGCGTTGTATTAAGTTCTGAAGTAAGAAAGTGTGAGTCATCCAACTTGTTCTTTTTTCGAGATTATTTTGGCTATTCTGGGTACCTTGAGAATATGAATTGTAGGGTTAACTTGGCAAGGTCTGTAAATAAGACAACTGGGATTTTAATAGAGATTACATTGAATCTTTTGGCCATCCTAATACAAAGTCTTCTGATCCAAAAAGATGGAATGTCTTCCCATTGATTTAGATCTTTGCTTTCTTTCAGCAGTGTTTTGTAGATTTTATTGTACAGGTGTTAATACTTTTGTTAGATATATCCGTAAGTGTTTTATTCTCTAATGCTATTATAAATGAAATCATTGTCTCCATTTTGAGATCGTTTAGAAGTACAATTGTTTTTCGTATATTGGGGCACATGGCTTTTACTAATAGAAAAATCATATGTATACATGCTTGTTTACTAAGTTTTAGGCACTTGGTCAATGCTGTTGATTTTCTGTTTGTAACATTTGCTCGTTGGTCATCACTTCCTTTTCTGATTGGAAAATTATTGTAGCAGTTCTGCTGAGCATGTACTTTGAAGTACTTTATCTTCTAGGGAAACCTGAAATTCTTAAGCAGCTCACTCTGGGACTCAGCTGTCTGTGCTTTACTCTGCTCTGATAGAGCAGTTTACCAGATGTGCATGTGGCCATCTGAGTGGAACAGCTGTGCAGTTGAGATGAATTGCTGTTAGAGGTGTTGTCCTGGAACTGTCTGGTTGCAGGAGCAATGGTGCCTTCCAGTGCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGNNN
|
pathogenic
| 311,046 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 4699379, gene PRNP (prion protein (Kanno blood group)). What disease(s) is it linked to if pathogenic?
|
benign
|
ACCAAACTCCCGCCCTAAAGGAGCCTGCACTCCCGTGGAGAACATGAATAATAAGCACAGAGGAAATAACATAATATCTCAAGTAGCTGTAACTGCTCCAGAGAATAATGAAGCCAGGAAAGGGGGTGGGCTAGGGGGTGCTGTTTTAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGT
|
ACCAAACTCCCGCCCTAAAGGAGCCTGCACTCCCGTGGAGAACATGAATAATAAGCACAGAGGAAATAACATAATATCTCAAGTAGCTGTAACTGCTCCAGAGAATAATGAAGCCAGGAAAGGGGGTGGGCTAGGGGGTGCTGTTTTAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTNNNNNNNNNNNNNNNNNNNNNNNN
|
benign
| 311,061 |
Chromosome 20, position 4699442, gene PRNP (prion protein (Kanno blood group)): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
benign
|
AAATAACATAATATCTCAAGTAGCTGTAACTGCTCCAGAGAATAATGAAGCCAGGAAAGGGGGTGGGCTAGGGGGTGCTGTTTTAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATAT
|
AAATAACATAATATCTCAAGTAGCTGTAACTGCTCCAGAGAATAATGAAGCCAGGAAAGGGGGTGGGCTAGGGGGTGCTGTTTTAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATNNNNNNNNNNNNNNNNNNNNNNNN
|
benign
| 311,064 |
Chromosome 20, position 4699448, gene PRNP (prion protein (Kanno blood group)): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
|
benign
|
CATAATATCTCAAGTAGCTGTAACTGCTCCAGAGAATAATGAAGCCAGGAAAGGGGGTGGGCTAGGGGGTGCTGTTTTAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTA
|
CATAATATCTCAAGTAGCTGTAACTGCTCCAGAGAATAATGAAGCCAGGAAAGGGGGTGGGCTAGGGGGTGCTGTTTTAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTANNNNNNNNNNNNNNNNNNNNNNNN
|
benign
| 311,067 |
Variant at chromosome 20, position 5314311, gene PROKR2 (prokineticin receptor 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
|
pathogenic; ['Hypogonadotropic_hypogonadism_2_with_or_without_anosmia', 'Hypogonadotropic_hypogonadism_3_with_or_without_anosmia', 'Inborn_genetic_diseases', 'PROKR2-related_disorder', 'likely other unspecified diseases']
|
CGCCCAACTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCTGCCCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCACCCGGGCTGACTTTGTGTCTTTCCATCAAATGATACTTTGCACCATTTTCCCTGGAGAATTGTGTGCAGTTGGTTGATAGGTACACATTTCATAAGGGATGGTTTCAGGGCTGGTGAGCCTGAGTTGTAGCAAAATCGTTTTTCCTGCAGAAATTATGTTATACAAAGGAAGGAGGATGCTTCCTACACCCGTCTGTGTATTTTATTACTAAAATGAAAAATATTAAACTGGCTGAATAAAGAGAAAAAATCTAAGCAGCACTGAGAACAGGGGAAAAATTTAAGAGTTGAAAAGATGAAAGGAAAAAAGATGACTAAGCAGATCATCCTAATGAGCACAGCTTACAATGGTGGACAGCAACCAAGAGAAGGTGACCACTGCCCCCTCGAACAGAGCCAGTGATGGCCCGATGCTGGCCTGCAACTGTTCACATAAACAAAATGTGTGTAAGATTTGTCATAAACTGCTATTATACATTTTACTTTATAAATTTAAAATAGAGCAAGGGCTGGTGACGAGGAATAAGTTCTAGTGTTCTACAGGTCTATAGGGTGAATATAATTACCACAATTTATTATATAATTTCCAAATAGCCAGAAGAGTGGATTTTGAATGTTTCCAACACAAAGAAATGATAAACATTTGAGGTGATGGATATGCTAATTACCTTGGTTGATCATTACACATTGTATACATACATGCATAGAAATATCACTCTGTATGCCATTAAGTATTTACAATTATTATGTGTCAATTAAAAATAATAAAAGCAAAAAATAAAATAATAAATACATAAAGGAAAGGAAAAAATAAAATAGAGCAAGGACTTCTGGAAATATCTCATGCAAATGTATGCAAATGAGCACACCAACATATGCAGAAAAGCAAAAGCAAGCGTGTCCTTTCCTCTTTTGCACAAACAAACCCTGTTATCTTATTTTAAAATGAGCTCTGCAACAAAGTCTATCAGAAACAACAGCACATACGTTATGTTTTTTTATGACATTAAAGAACAGGTGAAACTGAACTGTAATGATAGAAATCAGATTGGTGGTTGCCTGGTGGGGGAGGATTGACTGGTGAGGAGCACAGAAGGTTCTCTAGCTGATGGAAATGTTTCACATCTCCACCTGGAGGGTGGCTACAGGAAAAGCCTAGTACATGTTTTCCTGACTGGAAGCTGCCCTAGTTAACTCTCATGTGGCTTCTAGGTAGTAGCTGCCTGCCCTTTCTGCTTTCCCTTTGTGTTGGTGCCACATACTGTCATGTGGCATGCCTGTATCTGAAGCACATGTGGTATCTGGGGGCATGGCCCAGAGATGGGCCACTCAGCAGCCCCAGTCTTGCTCACATCTGGGGGAACAGAACTCAACTGGAGAAACAAGACCTCCTCTTGCCCTCCAAAGATTGGTGAGCATTCCTATCTGGAGCAATGTCAGCCTGTCAGAGCCTAAATGAGGAAAGAGACAGCCTGGCCCAGCCCCACCACTCACCCCACCCACCATCCTCACCTGTCAATGGCAATGGCCAGCAAGGCATTGGTGGAGACGTAGAGGGAGACGGTGCGCAGGTAGTTGACGGAGGCACAGAGCACGTGGCCATGCTCCCAGGAGAGCTGCCGTACCACGTAGTAGTCCATCTCGAAGGGGCAGCAGATGATGGCCACCAGGAAGTCGGAGATGGCCAGGTTGGCAATGAGCAGATTGGTGAGGTTGCGCAACTTCTTATAGCGGGTGAGGGCAGCGATAAAGACAAAGTTACCGATGCCGCAGACCAGCATGATGCCTGCCAGTGCAATGCCAATGACGATCTTGGCTGCGAAGAAGGTCCGGGTCTTGGTCATGTCCTCATCCTCATCCATAGGGAGGTCATAATCACCATAACTGAAGTTAAAGGAGAGGGAGGAGGCATGGTCTTGGGGTGGATTAAAGTTGGGTGTGAAACTGGTGTTTCCATTCTGGGCTGCCATGGTGATGTCTGCAAGAAAAGTGGTGTGAGGGAGGTGCGAGGGGTGAGGGTCCAGACCTTCTGCTCTTTCAGGGTCAGTGAGCCTAGCACCCTGCCCACATCCTTGGGGAGAGTTGACTCACCGTCCTGGATCCTGGAAGGAGGCACAACCAGTGGGCAACATGCAGGAGAACATCTGGTCACATTCCCTGAGTTCCCCAAGTATAGGCCAACCAGACCCACTGCCTAACCAGATGGAACTACCCGGGATGCGGGGAGAGGAGACCTGAGATCTGTAAGTTGGGAAACCCTCCGTGGCTGCCCAGCTGTCAGGAAGGACAGCATAGGATGGATCAGACTGTCCAGAACTCTCAAGAAGAATGTGCACCTTTGCCCTTTGCCCAGGGGCCAGGGCCTCTTTGTCTGCCCAGTCACATCCTCCAGCCCCCAACACATCAGCTCCCACAGGGGCTTCTGGAACATTTCCAAGGATGCTCCCATGAGCTGGCCAGGCTCCTACAGCTGTCACAACGTTGTGGCACCTGTTGGCCAGGGACAATGAAGCAGGAGGGCCAGGATGCTGCGGGGTCTTCTCTCCAAAGCAGGACACCACTCCTTCTGTACTGACCAAGCCATAGACTTGGAAATCACCAAGTTCACTTTCACATGGACAGACTGAGTCACCCTGGGCCAGTGATTTATGCTCTCTGAGTCCTAATCTTCCTGTAAACCAAATTCCTGCTGCCCAGTCCAGTGCCTGGTGCATAGTGGGGGCTAGACAGACATCTGTTGAGTGCATGACCAGGGCGCTGTAGGTGGAGGAGGTGGTGGTGGGGTGGGGGAGGGGAATTCCCCTGCTGCTCCCCGTTCTGTGGGAACCAGCTCCAGAAAGAAATCCTCTGCCGCCCTTCCCACCCTACTCCAACTTTGGATCTGCTCTCTGACCTCCTTCACTTGGCCCTAGTTCTCCACCCAGAGTCAACCCTGCCTGAAAGGCACCATGTCCTGTCACCAAGGTCTCAAAATAGGGAAAATAGTCTCTGAAGCCCTCAGCCCGCAGGAGATAGGGCACCCCAGGGTACAAGGCTTCACCGAGGGGCTGGAAAAAGAGCCCAGATCCCAACACCTATAGAAAGGGGCCCTGGCTGTCCAGCTGTGAGTGGCCTTCCCCTCGCCTCTCAGCACACCTGGAAACGACTCCACATGTGGGCGCCGCGGGATGCTGGGTAGCAAGGAGATGACCCAGCTGAACAATGCATTTGGTCCACTCCTGCGAGGGGAGGAGAACGCCGAGGGACAGGAACTGCGCGCCAGCAAAAGACACCCTAACCTGGGGTGCGCCCGCCAGCTGCTTTCCCAAGGTGAAAACCTCCAAGAGGCGAGATGCAAATCCCAGTGGCGTCCACACCCGGAGGTGTCTTCTCTCCAGGTCGCCCCTCCGTCTCATGCGACACCCCAATCCCCGCAGCCTCTGCTCAGCGTGGGACCAAGAATGGGGAGTCCTACCCCTCCTCGGCTTTCCAGCCCCCTAACCCAAGACAAGAGGGCGCGCGCCCGGGCTGGGACAGGTCCCAGCCGCATTTTCGTAGATTGCACTCCCCGCCCGGGAGCGACCCGTTCCAGCAGCCCCCTTCCCGCCCCATCAACGCGGCCGCACTGTCGGCGTCTAGAGGCGACATCCTGGCAAAGACAGGAATCAAGTCAGAAATTCAGGCTCTAGAAGCAAAGGCTGCGGTGCCTCCTGGCTGGAAGAAAACGGCGGGTGGGTGGAGGATGCGGTGCGCGGGAATTTCCCCACGGACGCTTGCTGTTTCCTGCTCACCTTTCAGGAAGGTGCCCCTCTACCTGCACCCTCCCCTGCAATTTGGAGCTCGTCCGCGAGCTCAGCTACCCGCTGGCTCCCTCTGCCCGCGCCCGCACACCACAGACTCCGCTTACCGTACCCTACCCGGTCCTAGAGGGCCCAGAGGGGATCTCCTGAAACCAACTCGCCTGCTTGGAGCCAGCCCCG
|
CGCCCAACTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCTGCCCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCACCCGGGCTGACTTTGTGTCTTTCCATCAAATGATACTTTGCACCATTTTCCCTGGAGAATTGTGTGCAGTTGGTTGATAGGTACACATTTCATAAGGGATGGTTTCAGGGCTGGTGAGCCTGAGTTGTAGCAAAATCGTTTTTCCTGCAGAAATTATGTTATACAAAGGAAGGAGGATGCTTCCTACACCCGTCTGTGTATTTTATTACTAAAATGAAAAATATTAAACTGGCTGAATAAAGAGAAAAAATCTAAGCAGCACTGAGAACAGGGGAAAAATTTAAGAGTTGAAAAGATGAAAGGAAAAAAGATGACTAAGCAGATCATCCTAATGAGCACAGCTTACAATGGTGGACAGCAACCAAGAGAAGGTGACCACTGCCCCCTCGAACAGAGCCAGTGATGGCCCGATGCTGGCCTGCAACTGTTCACATAAACAAAATGTGTGTAAGATTTGTCATAAACTGCTATTATACATTTTACTTTATAAATTTAAAATAGAGCAAGGGCTGGTGACGAGGAATAAGTTCTAGTGTTCTACAGGTCTATAGGGTGAATATAATTACCACAATTTATTATATAATTTCCAAATAGCCAGAAGAGTGGATTTTGAATGTTTCCAACACAAAGAAATGATAAACATTTGAGGTGATGGATATGCTAATTACCTTGGTTGATCATTACACATTGTATACATACATGCATAGAAATATCACTCTGTATGCCATTAAGTATTTACAATTATTATGTGTCAATTAAAAATAATAAAAGCAAAAAATAAAATAATAAATACATAAAGGAAAGGAAAAAATAAAATAGAGCAAGGACTTCTGGAAATATCTCATGCAAATGTATGCAAATGAGCACACCAACATATGCAGAAAAGCAAAAGCAAGCGTGTCCTTTCCTCTTTTGCACAAACAAACCCTGTTATCTTATTTTAAAATGAGCTCTGCAACAAAGTCTATCAGAAACAACAGCACATACGTTATGTTTTTTTATGACATTAAAGAACAGGTGAAACTGAACTGTAATGATAGAAATCAGATTGGTGGTTGCCTGGTGGGGGAGGATTGACTGGTGAGGAGCACAGAAGGTTCTCTAGCTGATGGAAATGTTTCACATCTCCACCTGGAGGGTGGCTACAGGAAAAGCCTAGTACATGTTTTCCTGACTGGAAGCTGCCCTAGTTAACTCTCATGTGGCTTCTAGGTAGTAGCTGCCTGCCCTTTCTGCTTTCCCTTTGTGTTGGTGCCACATACTGTCATGTGGCATGCCTGTATCTGAAGCACATGTGGTATCTGGGGGCATGGCCCAGAGATGGGCCACTCAGCAGCCCCAGTCTTGCTCACATCTGGGGGAACAGAACTCAACTGGAGAAACAAGACCTCCTCTTGCCCTCCAAAGATTGGTGAGCATTCCTATCTGGAGCAATGTCAGCCTGTCAGAGCCTAAATGAGGAAAGAGACAGCCTGGCCCAGCCCCACCACTCACCCCACCCACCATCCTCACCTGTCAATGGCAATGGCCAGCAAGGCATTGGTGGAGACGTAGAGGGAGACGGTGCGCAGGTAGTTGACGGAGGCACAGAGCACGTGGCCATGCTCCCAGGAGAGCTGCCGTACCACGTAGTAGTCCATCTCGAAGGGGCAGCAGATGATGGCCACCAGGAAGTCGGAGATGGCCAGGTTGGCAATGAGCAGATTGGTGAGGTTGCGCAACTTCTTATAGCGGGTGAGGGCAGCGATAAAGACAAAGTTACCGATGCCGCAGACCAGCATGATGCCTGCCAGTGCAATGCCAATGACGATCTTGGCTGCGAAGAAGGTCCGGGTCTTGGTCATGTCCTCATCCTCATCCATAGGGAGGTCATAATCACCATAACTGAAGTTAAAGGAGAGGGAGGAGGCATGTCTTGGGGTGGATTAAAGTTGGGTGTGAAACTGGTGTTTCCATTCTGGGCTGCCATGGTGATGTCTGCAAGAAAAGTGGTGTGAGGGAGGTGCGAGGGGTGAGGGTCCAGACCTTCTGCTCTTTCAGGGTCAGTGAGCCTAGCACCCTGCCCACATCCTTGGGGAGAGTTGACTCACCGTCCTGGATCCTGGAAGGAGGCACAACCAGTGGGCAACATGCAGGAGAACATCTGGTCACATTCCCTGAGTTCCCCAAGTATAGGCCAACCAGACCCACTGCCTAACCAGATGGAACTACCCGGGATGCGGGGAGAGGAGACCTGAGATCTGTAAGTTGGGAAACCCTCCGTGGCTGCCCAGCTGTCAGGAAGGACAGCATAGGATGGATCAGACTGTCCAGAACTCTCAAGAAGAATGTGCACCTTTGCCCTTTGCCCAGGGGCCAGGGCCTCTTTGTCTGCCCAGTCACATCCTCCAGCCCCCAACACATCAGCTCCCACAGGGGCTTCTGGAACATTTCCAAGGATGCTCCCATGAGCTGGCCAGGCTCCTACAGCTGTCACAACGTTGTGGCACCTGTTGGCCAGGGACAATGAAGCAGGAGGGCCAGGATGCTGCGGGGTCTTCTCTCCAAAGCAGGACACCACTCCTTCTGTACTGACCAAGCCATAGACTTGGAAATCACCAAGTTCACTTTCACATGGACAGACTGAGTCACCCTGGGCCAGTGATTTATGCTCTCTGAGTCCTAATCTTCCTGTAAACCAAATTCCTGCTGCCCAGTCCAGTGCCTGGTGCATAGTGGGGGCTAGACAGACATCTGTTGAGTGCATGACCAGGGCGCTGTAGGTGGAGGAGGTGGTGGTGGGGTGGGGGAGGGGAATTCCCCTGCTGCTCCCCGTTCTGTGGGAACCAGCTCCAGAAAGAAATCCTCTGCCGCCCTTCCCACCCTACTCCAACTTTGGATCTGCTCTCTGACCTCCTTCACTTGGCCCTAGTTCTCCACCCAGAGTCAACCCTGCCTGAAAGGCACCATGTCCTGTCACCAAGGTCTCAAAATAGGGAAAATAGTCTCTGAAGCCCTCAGCCCGCAGGAGATAGGGCACCCCAGGGTACAAGGCTTCACCGAGGGGCTGGAAAAAGAGCCCAGATCCCAACACCTATAGAAAGGGGCCCTGGCTGTCCAGCTGTGAGTGGCCTTCCCCTCGCCTCTCAGCACACCTGGAAACGACTCCACATGTGGGCGCCGCGGGATGCTGGGTAGCAAGGAGATGACCCAGCTGAACAATGCATTTGGTCCACTCCTGCGAGGGGAGGAGAACGCCGAGGGACAGGAACTGCGCGCCAGCAAAAGACACCCTAACCTGGGGTGCGCCCGCCAGCTGCTTTCCCAAGGTGAAAACCTCCAAGAGGCGAGATGCAAATCCCAGTGGCGTCCACACCCGGAGGTGTCTTCTCTCCAGGTCGCCCCTCCGTCTCATGCGACACCCCAATCCCCGCAGCCTCTGCTCAGCGTGGGACCAAGAATGGGGAGTCCTACCCCTCCTCGGCTTTCCAGCCCCCTAACCCAAGACAAGAGGGCGCGCGCCCGGGCTGGGACAGGTCCCAGCCGCATTTTCGTAGATTGCACTCCCCGCCCGGGAGCGACCCGTTCCAGCAGCCCCCTTCCCGCCCCATCAACGCGGCCGCACTGTCGGCGTCTAGAGGCGACATCCTGGCAAAGACAGGAATCAAGTCAGAAATTCAGGCTCTAGAAGCAAAGGCTGCGGTGCCTCCTGGCTGGAAGAAAACGGCGGGTGGGTGGAGGATGCGGTGCGCGGGAATTTCCCCACGGACGCTTGCTGTTTCCTGCTCACCTTTCAGGAAGGTGCCCCTCTACCTGCACCCTCCCCTGCAATTTGGAGCTCGTCCGCGAGCTCAGCTACCCGCTGGCTCCCTCTGCCCGCGCCCGCACACCACAGACTCCGCTTACCGTACCCTACCCGGTCCTAGAGGGCCCAGAGGGGATCTCCTGAAACCAACTCGCCTGCTTGGAGCCAGCCCCGN
|
pathogenic
| 311,130 |
For chromosome 20, position 6077394, gene FERMT1 (FERM domain containing kindlin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
|
benign
|
AAAATAATAGAACTGAGAAATAGGACTGAGAAATGACCAACATCAAGTATATACGGTACACTTAGCACTTGTTTCTATAGAAAACATTTCAAATCAAGTTCTTTATGATGTGAACCAGATTTTCCAAATGCCTAAACCACTTCTGAGCTTTAAGCAAGGCCTCAGAAATTCAGCGGGTGCCTGGGAGGCTTCATTCACATTCACCTCTAAGGAGAGGCTAAAAGAGGAATTTCCAGATGGCAGCTACTGGCTCAGAACCAGGGGGTCCCTTGCCAAGTCTGTCTCTATGTGGCTCCCGGAATTGCTGAGGTCTCACTTCTCAGAGGGCTTTGATGGAAAATAAAGCAACAGCTGACGCTCACGGGCCTCGGAACTCTGGCCAGGCTCCCTGAGGGGTGCATCCTAGGAGAACTGAAAAATGGGATTGGAGCTTTTGCCTTATCCTTACACCCCAAGTTCTTTGTGTGGCAGAACATCTATGAAAAAATAATAAAATATTGTCTGATATTTCCCTTTACTTCTGGTATTGCTTTTGACCTTCTCAAAACCCACCCCTCCCACCTCTAACAAACCAAAATGGAAAATGACAATTCAGGCAGCTGTTAATTGGCTCACTCTCTCAAGGCAAGCACTGTCTCAAGGCAGTCTCAAGGCAGAGATGACACAGCAAAAAACAGAGGGGGAGAAAAAAGTCTATTATTGGCTTGTGATTTACAAAAGCCAAAGTCCTTTAGATAAAAGGCCAGGAGTCGTACCAACATAGATACCAAATCCAGGAGAACACAGACCAGCGATAAGAGGGACGCTTCCCCATGACCCAGACCAGCCTAAAGCCCCTGTGGGGGCAGCCAGTGGGGAGCTGTCAGACCTTGGACATGGTGGTCTTTGAGAATGGGTCTGCCCTTCTCTCCCTGACCAGTTGGGATAGACACCTGACTGGAATCCTTGACACTGGCAGGTGTTTCTATGAACAGAGAGGACTGTGCCTGTCTTCCTGAATCCCAACCCAGAGTAGAAGCAGTGGAGACATGGATCTGGGTTGAGAAATGGGTTTTCCTGTCCCCCTGTGTCACCCACATCTTCACAAAGGACTTACAGGTGGCTGAGAGATCTGTAGGAATGGAATGGGGCTTGCAGGTGGCCCCAGAAATCTGAGGAGACCAATGACTAAGACCAGATGTGGGTCAGTGGTCATCTTGGCAGGTATCACTGTGGACAGATGACACTGAGGGCCACTCCTCTGACCTTGGGTTGTCAACTGCTACCTGGTAGCCCCACCCCTCCCCTTTCTACCCCTAGACCTTGGCCTCCAGGGAAAAAGTGTGTGTAGGAACTCCCTCTGCCATTTTGAAAAGACAGGAGCTAAAAGCAGTTCCATGAAGGACAGGCGTTTCGTTTCATACCTGAGTTTGTGAAATAAGAGTTGTTCTTGCTACACGTGATTTTTACCTTTCTGTCTTCTCCATTGACTTAGTAATGAGACAGATCAGCACGAGGATAACTTGTAGCCATACACCTGGCAGGTTCTGCAAGTCAGAGAACTGTAACCACATGCTGGGCCTTAGAGCAATCTTAGGGCACCTGCTTTTCTCCTGCCTACCCATTTTATAGAAAAAACAAGAGAGGCTCCTTCCGTGGCTGGTAGCACAGGGCAAAGTAAGGAAAGGGATGTGCCAGCAGTGGGTTTGAATGAGGATCTGGGTGACCAGCGGTGAATGTATGTTGTCTGTTAGTCCAGAATCTACATGCTGGGCACGTTAGGGATCCCTCTGGGGAGGGGCGCCTTTGGCTTGCCTTGTTGGTGTGAGCCGAGCACGCGTGCTTGTTTCAATCCTGACCGCCGGTCAATTTGTGGAACAAGTCCTCATCGAGTGTTTCATTCTGGTCCTTGGAGCGGGTGGACAAGAAAATGTAGCCGCCAATGTACTCGTGCACAATCTTGCAATCTGCACTCAGGCAGGTGAAAGCAGTAAAGACGTTTTGGTCAAACTCGATGACCACCTGGAAGAGGAAGGCACAGAGAAGCTTAAACTCTGACAAGGAATGATGAAAAAAAAAGTGCTTTGCTGGACTGGCCCCTGGAGCTGAGGGCTGCTGAGGTGGATAACAGATGGATATCCCTCTAAAACACACAGAAAACCATCACTTCCATTAAACGCTTCCAGAAAACATCTTTGCTCTCTTTGCGCCCTCTGGTGGTGTCGACTTTGCTGCACGTCTGGTTAAAAAAACTCCCAACACATTTTCTGTCTACAGTTTAGATACAAGGATTTTGCCCAAGCACTCTCTGTCTCCCTGTGTTGAGGGGCAGGGTGCTTCGCAGGCACTTTATTTTTATTTTTATTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCCAGGCTGGGGTACAGTGGCACGATCTCGGGCCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTGTGTGCCACCACACCTGGCTAATTTTTGTATTTTCAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAGTGATCCATGCCTCGGACCCCCAAAGTGTTGGGATTATAGGCGTGAGCCACTGCACCCGGCCTGCAGGCTCTTTAATGAATAAAAGTCTGCCTGAATTTTCCTACAGCCACTGCCCGGAACCCTTTCCTAGCTGCAAGTCATAAACTCTAAGCACTAGAAGAAAGACTTAGAGACTTTGCTGGTTCACAACCTTGGCTGCCCATTGAAATCACTTGTGGACCTTTAAAAATTACTAATGGTTCGTTCCTCCTCCCAGAGATTCAGATTTAACTGGCCTTGGGTGTGGTCTAGGCAGTGGTGTTTTAAAGCTCCCCAGGTGATCCTAATACGCATCAAGGCTTTAGAGCTACCGCCTTAGAGGTCATCTAATCTCTGAACTTGATTTTACAAATAAGCACCCAGATGATTATCAACACTGCTGAGAGGAAGTCAGGGTTCTTAACAAATGTGTGGGTCTCTTACCATCCCTCTACGTCAGTGACTTTCTATTGGAAAATGAGAATGCCAAAGGAATGAGGGAAGATTGAGTCTGTATCAGCAACATCTGAATGTTTTAATTAATTCAAGAATGAATGAAACAGGGTCTTGCTTTGTTACCCAGGCTGGAGTGCAGTGGCACAGTCACTGCTCACTGTAACCTCGAACCTCAACTGATCATCCCTGGCTGAGTAGCTGAAACTACAGGTGCACACCATCACACCTGGCTAGTTCAGCGTTTTTTTTTTTTGTTTTTTTTTTTTTTAATTTTCTGTGGAGACAGGGTCTCATTATGTTGCCCAGGCTGGTCTCGAACTCCCAGCCTCAAGTGATCCTTCCCACCTCGGCCTCCCAAAGCACTGGGCAGAATGTTTTAAATTAGCGGCAGGATGCTAAGCTGCCTCTAACTTCATCTGGAATTTTCCATGATACAGGCTTGGCCTGAACTTAGCTCCTAGGATGGGAGATGATGGGAGGCTGTAACATAGGCTAGGGGTTTGAGGGCTCCTGGTTTTAAGAGGTGAAGCTTTTCTCAGTCATCACTATGGACCTCACTTTCTTCTTCAGCAGTTTTTCCCTTTTGGGCCTGGAATGCTCTCCAGGTGAGCAACTGAATCTTCCAGTCCTCCATCGGGTTTCTTGGCAGCCAGTCAGATGAGGCTTTTTTTGGATTTATTTTGCATAGCAGTTACATCTCCAGTAGTTTCTCATAAGTAAGTATCAAGCTAAATCCTGTATAATCCTATGCTGAGTCAATGAAAATTAATGAAACTGCTCAGCGATTTCAGAACCTGTCTGTATTGAAAGTCTGCATGGAGACTAAGCCAACTTGCAGTGCTAATGCAAGAGCATTTGGCCTGTGCCTGTTAGGAAGCTGCCCAGAATTGCATATGATGATTTTAGCAGACAGACAGTTACCATATGCTTGTGGTTTCTTAGGTCTAAATAGAAGAACACCTTTTAAAACTCAGAATAATCTGCAATTCTGAGGGACACACATTTATAGGCTCAACACTGAAGAGCAAAAACTTTCACTTTACCTGCCG
|
AAAATAATAGAACTGAGAAATAGGACTGAGAAATGACCAACATCAAGTATATACGGTACACTTAGCACTTGTTTCTATAGAAAACATTTCAAATCAAGTTCTTTATGATGTGAACCAGATTTTCCAAATGCCTAAACCACTTCTGAGCTTTAAGCAAGGCCTCAGAAATTCAGCGGGTGCCTGGGAGGCTTCATTCACATTCACCTCTAAGGAGAGGCTAAAAGAGGAATTTCCAGATGGCAGCTACTGGCTCAGAACCAGGGGGTCCCTTGCCAAGTCTGTCTCTATGTGGCTCCCGGAATTGCTGAGGTCTCACTTCTCAGAGGGCTTTGATGGAAAATAAAGCAACAGCTGACGCTCACGGGCCTCGGAACTCTGGCCAGGCTCCCTGAGGGGTGCATCCTAGGAGAACTGAAAAATGGGATTGGAGCTTTTGCCTTATCCTTACACCCCAAGTTCTTTGTGTGGCAGAACATCTATGAAAAAATAATAAAATATTGTCTGATATTTCCCTTTACTTCTGGTATTGCTTTTGACCTTCTCAAAACCCACCCCTCCCACCTCTAACAAACCAAAATGGAAAATGACAATTCAGGCAGCTGTTAATTGGCTCACTCTCTCAAGGCAAGCACTGTCTCAAGGCAGTCTCAAGGCAGAGATGACACAGCAAAAAACAGAGGGGGAGAAAAAAGTCTATTATTGGCTTGTGATTTACAAAAGCCAAAGTCCTTTAGATAAAAGGCCAGGAGTCGTACCAACATAGATACCAAATCCAGGAGAACACAGACCAGCGATAAGAGGGACGCTTCCCCATGACCCAGACCAGCCTAAAGCCCCTGTGGGGGCAGCCAGTGGGGAGCTGTCAGACCTTGGACATGGTGGTCTTTGAGAATGGGTCTGCCCTTCTCTCCCTGACCAGTTGGGATAGACACCTGACTGGAATCCTTGACACTGGCAGGTGTTTCTATGAACAGAGAGGACTGTGCCTGTCTTCCTGAATCCCAACCCAGAGTAGAAGCAGTGGAGACATGGATCTGGGTTGAGAAATGGGTTTTCCTGTCCCCCTGTGTCACCCACATCTTCACAAAGGACTTACAGGTGGCTGAGAGATCTGTAGGAATGGAATGGGGCTTGCAGGTGGCCCCAGAAATCTGAGGAGACCAATGACTAAGACCAGATGTGGGTCAGTGGTCATCTTGGCAGGTATCACTGTGGACAGATGACACTGAGGGCCACTCCTCTGACCTTGGGTTGTCAACTGCTACCTGGTAGCCCCACCCCTCCCCTTTCTACCCCTAGACCTTGGCCTCCAGGGAAAAAGTGTGTGTAGGAACTCCCTCTGCCATTTTGAAAAGACAGGAGCTAAAAGCAGTTCCATGAAGGACAGGCGTTTCGTTTCATACCTGAGTTTGTGAAATAAGAGTTGTTCTTGCTACACGTGATTTTTACCTTTCTGTCTTCTCCATTGACTTAGTAATGAGACAGATCAGCACGAGGATAACTTGTAGCCATACACCTGGCAGGTTCTGCAAGTCAGAGAACTGTAACCACATGCTGGGCCTTAGAGCAATCTTAGGGCACCTGCTTTTCTCCTGCCTACCCATTTTATAGAAAAAACAAGAGAGGCTCCTTCCGTGGCTGGTAGCACAGGGCAAAGTAAGGAAAGGGATGTGCCAGCAGTGGGTTTGAATGAGGATCTGGGTGACCAGCGGTGAATGTATGTTGTCTGTTAGTCCAGAATCTACATGCTGGGCACGTTAGGGATCCCTCTGGGGAGGGGCGCCTTTGGCTTGCCTTGTTGGTGTGAGCCGAGCACGCGTGCTTGTTTCAATCCTGACCGCCGGTCAATTTGTGGAACAAGTCCTCATCGAGTGTTTCATTCTGGTCCTTGGAGCGGGTGGACAAGAAAATGTAGCCGCCAATGTACTCGTGCACAATCTTGCAATCTGCACTCAGGCAGGTGAAAGCAGTAAAGACGTTTTGGTCAAACTCGATGACCACCTGGAAGAGGAAGGCACAGAGAAGCTTAAACTCTGACAAGGAATGATGAAAAAAAAGTGCTTTGCTGGACTGGCCCCTGGAGCTGAGGGCTGCTGAGGTGGATAACAGATGGATATCCCTCTAAAACACACAGAAAACCATCACTTCCATTAAACGCTTCCAGAAAACATCTTTGCTCTCTTTGCGCCCTCTGGTGGTGTCGACTTTGCTGCACGTCTGGTTAAAAAAACTCCCAACACATTTTCTGTCTACAGTTTAGATACAAGGATTTTGCCCAAGCACTCTCTGTCTCCCTGTGTTGAGGGGCAGGGTGCTTCGCAGGCACTTTATTTTTATTTTTATTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCCAGGCTGGGGTACAGTGGCACGATCTCGGGCCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTGTGTGCCACCACACCTGGCTAATTTTTGTATTTTCAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAGTGATCCATGCCTCGGACCCCCAAAGTGTTGGGATTATAGGCGTGAGCCACTGCACCCGGCCTGCAGGCTCTTTAATGAATAAAAGTCTGCCTGAATTTTCCTACAGCCACTGCCCGGAACCCTTTCCTAGCTGCAAGTCATAAACTCTAAGCACTAGAAGAAAGACTTAGAGACTTTGCTGGTTCACAACCTTGGCTGCCCATTGAAATCACTTGTGGACCTTTAAAAATTACTAATGGTTCGTTCCTCCTCCCAGAGATTCAGATTTAACTGGCCTTGGGTGTGGTCTAGGCAGTGGTGTTTTAAAGCTCCCCAGGTGATCCTAATACGCATCAAGGCTTTAGAGCTACCGCCTTAGAGGTCATCTAATCTCTGAACTTGATTTTACAAATAAGCACCCAGATGATTATCAACACTGCTGAGAGGAAGTCAGGGTTCTTAACAAATGTGTGGGTCTCTTACCATCCCTCTACGTCAGTGACTTTCTATTGGAAAATGAGAATGCCAAAGGAATGAGGGAAGATTGAGTCTGTATCAGCAACATCTGAATGTTTTAATTAATTCAAGAATGAATGAAACAGGGTCTTGCTTTGTTACCCAGGCTGGAGTGCAGTGGCACAGTCACTGCTCACTGTAACCTCGAACCTCAACTGATCATCCCTGGCTGAGTAGCTGAAACTACAGGTGCACACCATCACACCTGGCTAGTTCAGCGTTTTTTTTTTTTGTTTTTTTTTTTTTTAATTTTCTGTGGAGACAGGGTCTCATTATGTTGCCCAGGCTGGTCTCGAACTCCCAGCCTCAAGTGATCCTTCCCACCTCGGCCTCCCAAAGCACTGGGCAGAATGTTTTAAATTAGCGGCAGGATGCTAAGCTGCCTCTAACTTCATCTGGAATTTTCCATGATACAGGCTTGGCCTGAACTTAGCTCCTAGGATGGGAGATGATGGGAGGCTGTAACATAGGCTAGGGGTTTGAGGGCTCCTGGTTTTAAGAGGTGAAGCTTTTCTCAGTCATCACTATGGACCTCACTTTCTTCTTCAGCAGTTTTTCCCTTTTGGGCCTGGAATGCTCTCCAGGTGAGCAACTGAATCTTCCAGTCCTCCATCGGGTTTCTTGGCAGCCAGTCAGATGAGGCTTTTTTTGGATTTATTTTGCATAGCAGTTACATCTCCAGTAGTTTCTCATAAGTAAGTATCAAGCTAAATCCTGTATAATCCTATGCTGAGTCAATGAAAATTAATGAAACTGCTCAGCGATTTCAGAACCTGTCTGTATTGAAAGTCTGCATGGAGACTAAGCCAACTTGCAGTGCTAATGCAAGAGCATTTGGCCTGTGCCTGTTAGGAAGCTGCCCAGAATTGCATATGATGATTTTAGCAGACAGACAGTTACCATATGCTTGTGGTTTCTTAGGTCTAAATAGAAGAACACCTTTTAAAACTCAGAATAATCTGCAATTCTGAGGGACACACATTTATAGGCTCAACACTGAAGAGCAAAAACTTTCACTTTACCTGCCGN
|
benign
| 311,160 |
The mutation in gene BMP2 (bone morphogenetic protein 2) at chromosome 20, position 6770351—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Short_stature,_facial_dysmorphism,_and_skeletal_anomalies_with_or_without_cardiac_anomalies_1']
|
CCGAGATCGCCGCCGTGCCCTTCCCTGGACCCGGCGTCGCCCAGGATGGCTGCCCCGAGCCATGGGCCGCGGCGGAGCTAGCGCGGAGCGCCCGACCCTCGACCCCCGAGTCCCGGAGCCGGCCCCGCGCGGGGCCACGCGTCCCTCGGGCGCTGGTTCCTAAGGAGGACGACAGCACCAGCTTCTCCTTTCTCCCTTCCCTTCCCTGCCCCGCACTCCTCCCCCTGCTCGCTGTTGTTGTGTGTCAGCACTTGGCTGGGGACTTCTTGAACTTGCAGGGAGAATAACTTGCGCACCCCACTTTGCGCCGGTGCCTTTGCCCCAGCGGAGCCTGCTTCGCCATCTCCGAGCCCCACCGCCCCTCCACTCCTCGGCCTTGCCCGACACTGAGACGCTGTTCCCAGCGTGAAAAGAGAGACTGCGCGGCCGGCACCCGGGAGAAGGAGGAGGCAAAGAAAAGGAACGGACATTCGGTCCTTGCGCCAGGTCCTTTGACCAGAGTTTTTCCATGTGGACGCTCTTTCAATGGACGTGTCCCCGCGTGCTTCTTAGACGGACTGCGGTCTCCTAAAGGTAGAGGACGCGGGCCAGGGCCCGGGGTGGGTGGTGGGTGGGAGGGGGATTTGGGCAGCCACTGCGGTAGAGCCCTTCCTTACGTCCAGGCCAGAAGTAAACAGACCCCTCTCCAGTCCACGTGCAACGGAGCCCTGCAGGGGCTCCCACTTCCAGCTGCCCCGGGCGACCGTAAGCCTCACCCTCCCGGCCCGCACTCTTCCACCCCTCTTTCTTCCCCTCTCCCTGGAATACTTTTGGAGCTGTTAACACTTAGATGAGGTGTTTTATTTATTTATTTATTTATTTTTAATTTTTTTAAAAACTTTTTTGGGTCAAAGAAATCCCTTTGAGAGGGTAGCCCCTGGGTTTCACCCGTTAGCTGAGAACCTGTCCGCTCTGCCATGGTGATCTCCATTCTTCAAGTGTTTCCGGGAGACTTGGTTTCTTTGCTCAGAGCCGTGTCCCATTTAGGAAAGTACTAGGAGTTTGGGGTTCTCCCTACTTGTTTCCAGAAATGCGAGGGGTCAGTACTGAAGGATCACTTGGTACTGTGTTTTTAACAGCTGACACGTGCATTAATAGATATTCACCATTTACGTAATCCCGGGAAGATACATGTGTATCTTGACTGCACTGTGGGGATGCGGGATGGAGCTGCCTTTCGAGACACCCCTGAGGGTAGGGGCCTGGGACACAAGTCATAAGTGGCTTCAGAAGTTGTGGCCTTGAGCTTACAGGGTCTGGAAGCTATAAGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGAAGTTCTATACAGTGCCTCTAAGGAAGTCACATGCACCATTTATGTGTGTTTATATGCCAGACAGCGCTCAGCACTCCGCATTTGGGTTTGTATAGGGGACGCAGGGTGTCAGATCAAGCGGTGGTTTTCCCAGGTTCCCGGCATTGGCTGTCAGCGCTGTGTCACACACAAAAAAGTGACAGTCATTGGCGCTGGTTTGGTTGGGGGGGAGGGCAAATCCCAAATCTGATGTCAGACGAGCTAAGCGTTGGATGGGAGCGATAAATCATCTGGTTCAGGAACTTGGGACCCTTCATTATCCCAAACGTTTGAGCTTCGGTCGGTCTTACCTAGACTCGTGAGTGTGCCAAGCCAGGAGGGCATCCTGGAGGAGGCACGCCAGCCAAATGGGAGACCGGGCCGCGGGGGCGCGAGGGGGGAGGACTGGGCGGGGAACTCGGGTGACTCACGTCGGTCCTGTCCGCAGGTCGACCATGGTGGCCGGGACCCGCTGTCTTCTAGCGTTGCTGCTTCCCCAGGTCCTCCTGGGCGGCGCGGCTGGCCTCGTTCCGGAGCTGGGCCGCAGGAAGTTCGCGGCGGCGTCGTCGGGCCGCCCCTCATCCCAGCCCTCTGACGAGGTCCTGAGCGAGTTCGAGTTGCGGCTGCTCAGCATGTTCGGCCTGAAACAGAGACCCACCCCCAGCAGGGACGCCGTGGTGCCCCCCTACATGCTAGACCTGTATCGCAGGCACTCAGGTCAGCCGGGCTCACCCGCCCCAGACCACCGGTTGGAGAGGGCAGCCAGCCGAGCCAACACTGTGCGCAGCTTCCACCATGAAGGTGAGGCATGGAGCAGGGCGTGGGGGCGGGGAGTCACCCTGCAAAGCCCTCCACCGTGGGCAGACTGCAGCCGTCCCTGTAGAGGCAGCTTGGCCGGGGCACCAGCGGACGTTTCCACTCTTGCTTCTGTACTATCGTTTCTGAATCTGATTTTAACTCACTGCTTGTGTGGTGGGGGAGCCAGGGATTCCCCTTTAGTAACTCCGCACCCTCTTCCTGGCTTGCAGCCAGAAGAGCTACTCCTCCTGGAAGAATTGGAGAGAAATCAAGTGATGGGGAAGATGAGGGCAAAAGGCATGCCTCTAGTCAGCTAAACGTGCAAGAATTCCACAGAGGGAAAAGGAGAAAAAGGGAGGCAGATTGAGATTTCTTTAAGTCTGTTTGGAAGCTTTTGCTCTATAAATCTGCCGCTTAAGCCAGGGTTTTAGGGTAGACAGAGCCAAGGGCAGAGTTTTCAGAGATAGTATTGAAAAATCAAAGCCCAGGGCCCCAAAGTCTTTCTAATTTATAGTTGATCTGGGCCTGGTTTGGAAGATTTTGAATCCCAATCTAATCCCCGTGGGAGATCAATACTACAATCAATCTTATTGTTTCCACAATGACTTTCTTGTCCTGTGCTTAAATCTGAGATAGGCTCTGAGTAGAGACAAGGCAAGCCTTCAGATAAAAGCGTTTGTAGCAGCTGCCTGTTTTTTTTTCATGTGCACCGAAATGTGGATTTTTTTTTCTTTTATGATACTACATGTGGTTTTTCTAAGGTGGGATATTTCTGCTTGTTTCATCAGAAGGGCATTTAGTGGACTGGAAATGTCTTACAGCAGCTATTGAGGTCTGCTGTACCTAAGTTCTTAGAGCAATTAGTCAAAAATATGTTCCACTTCAATTCTTTTTCTACACTTTTAAATGCTTCTTTGGCTTAATACATTTAAAATAGAGCATGGGTTTCTTCAATTCCTAGAAAAGAGTACAAAAGTGTATATCACAGAGCAACCACTTGGCAGATATTTGGGGAGTTGGGAGTGAAGTTCTCTTTCTTGCCTTTCCCTGCTTAGGTGGTAAATTTCAAGTGGGAAATTTACACTGATAATAGACTAATGGGAAATGGCACTTCCAGATGTTTTCTCCCAGTGTGAAGGGTGACTTATACTTGTGAGAGTATTTGTTGGTAATGGGAATAAGTCCCAAAGGCAAGCCACATAGCAGAAGATACGTTCTCATTGAGGCAGCTACACATTACGACGGGGACACTGAATTGATCATCAGTTCATTTACAAGCACATTTCTAAGTGAGGTGCTCTCTGCTAGCAGAAATCAGATTTGAAAGGCAGTAAGATCTCACTCCACTCTTTCAGAATTCATCCAATGAAAGCAGAAATCACCTGTTGTCATATGTAAAATTTGTGTGTATGTGTACATTCTGCCATCTTAACCCTGAAATGATTATAGATCCAGCTAATCATTCCCAGGTAATGCTGATTAGAATACTTTTTTTTTTGTATAGGAATGTAATAAGAACAACTGTTTTAGACACCTCTTCTGGAAATTTAGCATGGAAGCTCTCAACTTTATTTTTAAGGCCTGGAAGATGCTGTGTCTCTGTTACAACTTAAAAGGAAGATCATTTAAGTTAGTTAACACCTAAAACATTCCATTGTGTGAGGATTTTATCAGTGATGTCTGCATATTCTCATCATTCATCTAGAAGTGGTTTGATCAGAACTAAACAGGCTACACGTTATTCAACTGTGTTATTTTAACTTAAAAAGCATGCTTGAGTTTATAAAATCAGAATTTATATCTTTGTGAGTGTAAATGTTACCTGAGAAACAGTACAGAAGTGACCAACTTGATTAAAATCAACTTGTAATAACTTCAGGTCTTAATGCAGTTAGATAATGGAGAAAAGCTATGTAATTTTGCCCCAAA
|
CCGAGATCGCCGCCGTGCCCTTCCCTGGACCCGGCGTCGCCCAGGATGGCTGCCCCGAGCCATGGGCCGCGGCGGAGCTAGCGCGGAGCGCCCGACCCTCGACCCCCGAGTCCCGGAGCCGGCCCCGCGCGGGGCCACGCGTCCCTCGGGCGCTGGTTCCTAAGGAGGACGACAGCACCAGCTTCTCCTTTCTCCCTTCCCTTCCCTGCCCCGCACTCCTCCCCCTGCTCGCTGTTGTTGTGTGTCAGCACTTGGCTGGGGACTTCTTGAACTTGCAGGGAGAATAACTTGCGCACCCCACTTTGCGCCGGTGCCTTTGCCCCAGCGGAGCCTGCTTCGCCATCTCCGAGCCCCACCGCCCCTCCACTCCTCGGCCTTGCCCGACACTGAGACGCTGTTCCCAGCGTGAAAAGAGAGACTGCGCGGCCGGCACCCGGGAGAAGGAGGAGGCAAAGAAAAGGAACGGACATTCGGTCCTTGCGCCAGGTCCTTTGACCAGAGTTTTTCCATGTGGACGCTCTTTCAATGGACGTGTCCCCGCGTGCTTCTTAGACGGACTGCGGTCTCCTAAAGGTAGAGGACGCGGGCCAGGGCCCGGGGTGGGTGGTGGGTGGGAGGGGGATTTGGGCAGCCACTGCGGTAGAGCCCTTCCTTACGTCCAGGCCAGAAGTAAACAGACCCCTCTCCAGTCCACGTGCAACGGAGCCCTGCAGGGGCTCCCACTTCCAGCTGCCCCGGGCGACCGTAAGCCTCACCCTCCCGGCCCGCACTCTTCCACCCCTCTTTCTTCCCCTCTCCCTGGAATACTTTTGGAGCTGTTAACACTTAGATGAGGTGTTTTATTTATTTATTTATTTATTTTTAATTTTTTTAAAAACTTTTTTGGGTCAAAGAAATCCCTTTGAGAGGGTAGCCCCTGGGTTTCACCCGTTAGCTGAGAACCTGTCCGCTCTGCCATGGTGATCTCCATTCTTCAAGTGTTTCCGGGAGACTTGGTTTCTTTGCTCAGAGCCGTGTCCCATTTAGGAAAGTACTAGGAGTTTGGGGTTCTCCCTACTTGTTTCCAGAAATGCGAGGGGTCAGTACTGAAGGATCACTTGGTACTGTGTTTTTAACAGCTGACACGTGCATTAATAGATATTCACCATTTACGTAATCCCGGGAAGATACATGTGTATCTTGACTGCACTGTGGGGATGCGGGATGGAGCTGCCTTTCGAGACACCCCTGAGGGTAGGGGCCTGGGACACAAGTCATAAGTGGCTTCAGAAGTTGTGGCCTTGAGCTTACAGGGTCTGGAAGCTATAAGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGAAGTTCTATACAGTGCCTCTAAGGAAGTCACATGCACCATTTATGTGTGTTTATATGCCAGACAGCGCTCAGCACTCCGCATTTGGGTTTGTATAGGGGACGCAGGGTGTCAGATCAAGCGGTGGTTTTCCCAGGTTCCCGGCATTGGCTGTCAGCGCTGTGTCACACACAAAAAAGTGACAGTCATTGGCGCTGGTTTGGTTGGGGGGGAGGGCAAATCCCAAATCTGATGTCAGACGAGCTAAGCGTTGGATGGGAGCGATAAATCATCTGGTTCAGGAACTTGGGACCCTTCATTATCCCAAACGTTTGAGCTTCGGTCGGTCTTACCTAGACTCGTGAGTGTGCCAAGCCAGGAGGGCATCCTGGAGGAGGCACGCCAGCCAAATGGGAGACCGGGCCGCGGGGGCGCGAGGGGGGAGGACTGGGCGGGGAACTCGGGTGACTCACGTCGGTCCTGTCCGCAGGTCGACCATGGTGGCCGGGACCCGCTGTCTTCTAGCGTTGCTGCTTCCCCAGGTCCTCCTGGGCGGCGCGGCTGGCCTCGTTCCGGAGCTGGGCCGCAGGAAGTTCGCGGCGGCGTCGTCGGGCCGCCCCTCATCCCAGCCCTCTGACGAGGTCCTGAGCGAGTTCGAGTTGCGGCTGCTCAGCATGTTCGGCCTGAAACAGAGACCCACCCCCAGCAGGGACGCCGTGGTGCCCCCCCTACATGCTAGACCTGTATCGCAGGCACTCAGGTCAGCCGGGCTCACCCGCCCCAGACCACCGGTTGGAGAGGGCAGCCAGCCGAGCCAACACTGTGCGCAGCTTCCACCATGAAGGTGAGGCATGGAGCAGGGCGTGGGGGCGGGGAGTCACCCTGCAAAGCCCTCCACCGTGGGCAGACTGCAGCCGTCCCTGTAGAGGCAGCTTGGCCGGGGCACCAGCGGACGTTTCCACTCTTGCTTCTGTACTATCGTTTCTGAATCTGATTTTAACTCACTGCTTGTGTGGTGGGGGAGCCAGGGATTCCCCTTTAGTAACTCCGCACCCTCTTCCTGGCTTGCAGCCAGAAGAGCTACTCCTCCTGGAAGAATTGGAGAGAAATCAAGTGATGGGGAAGATGAGGGCAAAAGGCATGCCTCTAGTCAGCTAAACGTGCAAGAATTCCACAGAGGGAAAAGGAGAAAAAGGGAGGCAGATTGAGATTTCTTTAAGTCTGTTTGGAAGCTTTTGCTCTATAAATCTGCCGCTTAAGCCAGGGTTTTAGGGTAGACAGAGCCAAGGGCAGAGTTTTCAGAGATAGTATTGAAAAATCAAAGCCCAGGGCCCCAAAGTCTTTCTAATTTATAGTTGATCTGGGCCTGGTTTGGAAGATTTTGAATCCCAATCTAATCCCCGTGGGAGATCAATACTACAATCAATCTTATTGTTTCCACAATGACTTTCTTGTCCTGTGCTTAAATCTGAGATAGGCTCTGAGTAGAGACAAGGCAAGCCTTCAGATAAAAGCGTTTGTAGCAGCTGCCTGTTTTTTTTTCATGTGCACCGAAATGTGGATTTTTTTTTCTTTTATGATACTACATGTGGTTTTTCTAAGGTGGGATATTTCTGCTTGTTTCATCAGAAGGGCATTTAGTGGACTGGAAATGTCTTACAGCAGCTATTGAGGTCTGCTGTACCTAAGTTCTTAGAGCAATTAGTCAAAAATATGTTCCACTTCAATTCTTTTTCTACACTTTTAAATGCTTCTTTGGCTTAATACATTTAAAATAGAGCATGGGTTTCTTCAATTCCTAGAAAAGAGTACAAAAGTGTATATCACAGAGCAACCACTTGGCAGATATTTGGGGAGTTGGGAGTGAAGTTCTCTTTCTTGCCTTTCCCTGCTTAGGTGGTAAATTTCAAGTGGGAAATTTACACTGATAATAGACTAATGGGAAATGGCACTTCCAGATGTTTTCTCCCAGTGTGAAGGGTGACTTATACTTGTGAGAGTATTTGTTGGTAATGGGAATAAGTCCCAAAGGCAAGCCACATAGCAGAAGATACGTTCTCATTGAGGCAGCTACACATTACGACGGGGACACTGAATTGATCATCAGTTCATTTACAAGCACATTTCTAAGTGAGGTGCTCTCTGCTAGCAGAAATCAGATTTGAAAGGCAGTAAGATCTCACTCCACTCTTTCAGAATTCATCCAATGAAAGCAGAAATCACCTGTTGTCATATGTAAAATTTGTGTGTATGTGTACATTCTGCCATCTTAACCCTGAAATGATTATAGATCCAGCTAATCATTCCCAGGTAATGCTGATTAGAATACTTTTTTTTTTGTATAGGAATGTAATAAGAACAACTGTTTTAGACACCTCTTCTGGAAATTTAGCATGGAAGCTCTCAACTTTATTTTTAAGGCCTGGAAGATGCTGTGTCTCTGTTACAACTTAAAAGGAAGATCATTTAAGTTAGTTAACACCTAAAACATTCCATTGTGTGAGGATTTTATCAGTGATGTCTGCATATTCTCATCATTCATCTAGAAGTGGTTTGATCAGAACTAAACAGGCTACACGTTATTCAACTGTGTTATTTTAACTTAAAAAGCATGCTTGAGTTTATAAAATCAGAATTTATATCTTTGTGAGTGTAAATGTTACCTGAGAAACAGTACAGAAGTGACCAACTTGATTAAAATCAACTTGTAATAACTTCAGGTCTTAATGCAGTTAGATAATGGAGAAAAGCTATGTAATTTTGCCCCAA
|
pathogenic
| 311,230 |
Gene BMP2 (bone morphogenetic protein 2) variant at chromosome 20, position 6778297—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
|
pathogenic; ['Short_stature,_facial_dysmorphism,_and_skeletal_anomalies_with_or_without_cardiac_anomalies_1']
|
TGGATGGATCCTGAAAGGTATTCCCCAGAGGTTTGGATTAATAGGCACAAGGGAACCCTAAAGGACTCTATTGGCCTGATACTCCCCATATCCACGTAGAAGAGCTTTAGAAGAACCTTCTGTTCTGAGACCCTGGCTGGGCCCACCCAGAGCTGGCCCATTCAACTCTTACTCCTTTGCCACCACTAATGGTTCTTCTACTAGTTTTTATATTATTTAACAAAAAGGCACTTTAAAAATGCACTCCTGGCAATCTATACTGGAATATGAAAAACATGCTGCAAAACCTTGACACTCCAAGTGTGGTCTTACAGTTCCCAGAATCCCCTCCTTGAGGAGCTGCTAGAAATGCTGAATCTCAAGCATCTCCCCAGACCTACTGAATCAGAGCCTGCATCTGAAGCTTTACGGTGTACAAGCTGTTTTATGTGAAGGCTGAAGTTTGAAAAGCACTGCATTAAAGCGTTAGTTTGGTATAAACTGCCCTGACTGAACTTGGTGTGTCCACTTAGCTTGCATGATGACTGTTGCTTTGATGATGAAGGCTTACACGGGTAGATCCTTTGAGTGAGTGATCTGACATGATTCTCCTTTGCTAAGGCATCTAGATTCAGTGCACAACTTACAGCTGTTTGTCTTTAGGGGAAATACAACTGTAAAATTAATAAAAACATAGTCTCTTCTTATGATAACATGGAACGATGGCAAAATAGATTTTGTTAGCACTTGGGTAGGAATTCTGAATGAAGCAGGCAAATTCTGTTGGCAGTGAAATGATAGGATGTGGTAAAGTTAGAATAAAATAAACTTAAATGTCTCAAACTCTCATGGTATATACTACCAGTTTAATAATAATGTTGTACCTTTGATGATTTGCAGACTACAAGCATTCAAGGTGCTGTGTTATATATTACTTGCTTGGAGAATAATACTTCTTAAAAATTGAAATTCAGAAATTTTAAATCAGACAAAGCTTTTGTGCATGGCCCACTTAAATGGCTATTTTGAAATAATGATAGTGGATATAGAAGGATTATTCTGTAATAGGATGAGACTGTTCCTTTTGTCATGGAGATCATAATCATATTTTTGTAAATTTTTATTATTTTTTTGGTTTTGTGTCCATCCTGCACACTATTACTGGGTAGGTACATGGTTTTTTAACATGGTTTATCTTTCAAAACTATAAAGGCATTGCAAACAGAAGACAGGTCATTTATTTTTCTTCCAAAAGCATCTAAAATGAGATTTTGATATTTGAGGTCATAAAGAGGTGAGAGAACAGACAACAGTTGGGAAAGCTATTTCTCTTGAAATTGTTTGGCCTTAATTACTACAGTGTCCTAGTACCACCCATACGTTTCCAAAGAAGTAGATCCCTGTAAATGCCTTTGTCTCTGGACTTTTGAGTAAAATAGTAGGGTGTGCTTTGCAAAATGTCATCGTTGATGTTGAGTTTCAGAGTCTTTAATTAGGAAGCTGAAATCTGTATATCGAGATTTGTAAATCATCTAAATTGCAGAGTAATGTTTTAGAATACTGCTTAAGGGATTGGCATTAAAGCCTTTTTTAAAAAAGAAATGCAATAATTTCCTCAAATCCTCACTCATTAGACCTCTACTAACTATAGTGCTGACTTTTTTTTTTTTTTACCCTAAAGTCTGGAATTCCAAAGAAATGCTTCACCATTTCCCCCATTATTATAGCCACCTGGAAGCAGTATTCATGTATTAGATCAAAAACACAACAAAGAATTATGAAAGGTTGTTTCCTGGTATGCAATGCATGATGACATGAACTTACAGAACAGAGAGAAGGGAGGCTCCATGTTTATTTAAAGAGGAAATTTTTATTTTCTGGTTACCTACTTTTACATGGGTTACATCAAATCCCACGATGAGGTTTAAAAATTCTCATAGATAATCAAACGTCATTACTTGGCTTACTGAAATTCAGACTTTTCTTTTTTCTTCCCTGTTTTTCTCTATCAAATTAGAATCTTTGGAAGAACTACCAGAAACGAGTGGGAAAACAACCCGGAGATTCTTCTTTAATTTAAGTTCTATCCCCACGGAGGAGTTTATCACCTCAGCAGAGCTTCAGGTTTTCCGAGAACAGATGCAAGATGCTTTAGGAAACAATAGCAGTTTCCATCACCGAATTAATATTTATGAAATCATAAAACCTGCAACAGCCAACTCGAAATTCCCCGTGACCAGACTTTTGGACACCAGGTTGGTGAATCAGAATGCAAGCAGGTGGGAAAGTTTTGATGTCACCCCCGCTGTGATGCGGTGGACTGCACAGGGACACGCCAACCATGGATTCGTGGTGGAAGTGGCCCACTTGGAGGAGAAACAAGGTGTCTCCAAGAGACATGTTAGGATAAGCAGGTCTTTGCACCAAGATGAACACAGCTGGTCACAGATAAGGCCATTGCTAGTAACTTTTGGCCATGATGGAAAAGGGCATCCTCTCCACAAAAGAGAAAAACGTCAAGCCAAACACAAACAGCGGAAACGCCTTAAGTCCAGCTGTAAGAGACACCCTTTGTACGTGGACTTCAGTGACGTGGGGTGGAATGACTGGATTGTGGCTCCCCCGGGGTATCACGCCTTTTACTGCCACGGAGAATGCCCTTTTCCTCTGGCTGATCATCTGAACTCCACTAATCATGCCATTGTTCAGACGTTGGTCAACTCTGTTAACTCTAAGATTCCTAAGGCATGCTGTGTCCCGACAGAACTCAGTGCTATCTCGATGCTGTACCTTGACGAGAATGAAAAGGTTGTATTAAAGAACTATCAGGACATGGTTGTGGAGGGTTGTGGGTGTCGCTAGTACAGCAAAATTAAATACATAAATATATATATATATATATATTTTAGAAAAAAGAAAAAAACAAACAAACAAAAAAACCCCACCCCAGTTGACACTTTAATATTTCCCAATGAAGACTTTATTTATGGAATGGAATGGAAAAAAAAACAGCTATTTTGAAAATATATTTATATCTACGAAAAGAAGTTGGGAAAACAAATATTTTAATCAGAGAATTATTCCTTAAAGATTTAAAATGTATTTAGTTGTACATTTTATATGGGTTCAACCCCAGCACATGAAGTATAATGGTCAGATTTATTTTGTATTTATTTACTATTATAACCACTTTTTAGGAAAAAAATAGCTAATTTGTATTTATATGTAATCAAAAGAAGTATCGGGTTTGTACATAATTTTCCAAAAATTGTAGTTGTTTTCAGTTGTGTGTATTTAAGATGAAAAGTCTACATGGAAGGTTACTCTGGCAAAGTGCTTAGCACGTTTGCTTTTTTGCAGTGCTACTGTTGAGTTCACAAGTTCAAGTCCAGAAAAAAAAAGTGGATAATCCACTCTGCTGACTTTCAAGATTATTATATTATTCAATTCTCAGGAATGTTGCAGAGTGATTGTCCAATCCATGAGAATTTACATCCTTATTAGGTGGAATATTTGGATAAGAACCAGACATTGCTGATCTATTATAGAAACTCTCCTCCTGCCCCTTAATTTACAGAAAGAATAAAGCAGGATCCATAGAAATAATTAGGAAAACGATGAACCTGCAGGAAAGTGAATGATGGTTTGTTGTTCTTCTTTCCTAAATTAGTGATCCCTTCAAAGGGGCTGATCTGGCCAAAGTATTCAATAAAACGTAAGATTTCTTCATTATTGATATTGTGGTCATATATATTTAAAATTGATATCTCGTGGCCCTCATCAAGGGTTGGAAATTTATTTGTGTTTTACCTTTACCTCATCTGAGAGCTCTTTATTCTCCAAAGAACCCAGTTTTCTAACTTTTTGCCCAACACGCAGCAAAATTATGCACATCGTGTTTTCTGCCCACCCTCTGTTCTCTGACCTATCAGCTTGCTTTTCTTTCCAAGGTTGTGTGTTTGAACACATTTCTCCAAATGTTAAACCTATTTCAGATAATAAATATCAAATCTCTGGCATTTCATTCTATAAAGTCCAACCTGTAAGAGAAAATGGTGCATTTGTATAGCGCTTACAATGATGACCTTGTGTTTGCATTTTTGTTTCTGAAGTTATA
|
TGGATGGATCCTGAAAGGTATTCCCCAGAGGTTTGGATTAATAGGCACAAGGGAACCCTAAAGGACTCTATTGGCCTGATACTCCCCATATCCACGTAGAAGAGCTTTAGAAGAACCTTCTGTTCTGAGACCCTGGCTGGGCCCACCCAGAGCTGGCCCATTCAACTCTTACTCCTTTGCCACCACTAATGGTTCTTCTACTAGTTTTTATATTATTTAACAAAAAGGCACTTTAAAAATGCACTCCTGGCAATCTATACTGGAATATGAAAAACATGCTGCAAAACCTTGACACTCCAAGTGTGGTCTTACAGTTCCCAGAATCCCCTCCTTGAGGAGCTGCTAGAAATGCTGAATCTCAAGCATCTCCCCAGACCTACTGAATCAGAGCCTGCATCTGAAGCTTTACGGTGTACAAGCTGTTTTATGTGAAGGCTGAAGTTTGAAAAGCACTGCATTAAAGCGTTAGTTTGGTATAAACTGCCCTGACTGAACTTGGTGTGTCCACTTAGCTTGCATGATGACTGTTGCTTTGATGATGAAGGCTTACACGGGTAGATCCTTTGAGTGAGTGATCTGACATGATTCTCCTTTGCTAAGGCATCTAGATTCAGTGCACAACTTACAGCTGTTTGTCTTTAGGGGAAATACAACTGTAAAATTAATAAAAACATAGTCTCTTCTTATGATAACATGGAACGATGGCAAAATAGATTTTGTTAGCACTTGGGTAGGAATTCTGAATGAAGCAGGCAAATTCTGTTGGCAGTGAAATGATAGGATGTGGTAAAGTTAGAATAAAATAAACTTAAATGTCTCAAACTCTCATGGTATATACTACCAGTTTAATAATAATGTTGTACCTTTGATGATTTGCAGACTACAAGCATTCAAGGTGCTGTGTTATATATTACTTGCTTGGAGAATAATACTTCTTAAAAATTGAAATTCAGAAATTTTAAATCAGACAAAGCTTTTGTGCATGGCCCACTTAAATGGCTATTTTGAAATAATGATAGTGGATATAGAAGGATTATTCTGTAATAGGATGAGACTGTTCCTTTTGTCATGGAGATCATAATCATATTTTTGTAAATTTTTATTATTTTTTTGGTTTTGTGTCCATCCTGCACACTATTACTGGGTAGGTACATGGTTTTTTAACATGGTTTATCTTTCAAAACTATAAAGGCATTGCAAACAGAAGACAGGTCATTTATTTTTCTTCCAAAAGCATCTAAAATGAGATTTTGATATTTGAGGTCATAAAGAGGTGAGAGAACAGACAACAGTTGGGAAAGCTATTTCTCTTGAAATTGTTTGGCCTTAATTACTACAGTGTCCTAGTACCACCCATACGTTTCCAAAGAAGTAGATCCCTGTAAATGCCTTTGTCTCTGGACTTTTGAGTAAAATAGTAGGGTGTGCTTTGCAAAATGTCATCGTTGATGTTGAGTTTCAGAGTCTTTAATTAGGAAGCTGAAATCTGTATATCGAGATTTGTAAATCATCTAAATTGCAGAGTAATGTTTTAGAATACTGCTTAAGGGATTGGCATTAAAGCCTTTTTTAAAAAAGAAATGCAATAATTTCCTCAAATCCTCACTCATTAGACCTCTACTAACTATAGTGCTGACTTTTTTTTTTTTTTACCCTAAAGTCTGGAATTCCAAAGAAATGCTTCACCATTTCCCCCATTATTATAGCCACCTGGAAGCAGTATTCATGTATTAGATCAAAAACACAACAAAGAATTATGAAAGGTTGTTTCCTGGTATGCAATGCATGATGACATGAACTTACAGAACAGAGAGAAGGGAGGCTCCATGTTTATTTAAAGAGGAAATTTTTATTTTCTGGTTACCTACTTTTACATGGGTTACATCAAATCCCACGATGAGGTTTAAAAATTCTCATAGATAATCAAACGTCATTACTTGGCTTACTGAAATTCAGACTTTTCTTTTTTCTTCCCTGTTTTTCTCTATCAAATTAGAATCTTTGGAAGAACTACCAGAAACGAGTGGGAAAACAACCCGGAGATTCTTCTTTAAGTTCTATCCCCACGGAGGAGTTTATCACCTCAGCAGAGCTTCAGGTTTTCCGAGAACAGATGCAAGATGCTTTAGGAAACAATAGCAGTTTCCATCACCGAATTAATATTTATGAAATCATAAAACCTGCAACAGCCAACTCGAAATTCCCCGTGACCAGACTTTTGGACACCAGGTTGGTGAATCAGAATGCAAGCAGGTGGGAAAGTTTTGATGTCACCCCCGCTGTGATGCGGTGGACTGCACAGGGACACGCCAACCATGGATTCGTGGTGGAAGTGGCCCACTTGGAGGAGAAACAAGGTGTCTCCAAGAGACATGTTAGGATAAGCAGGTCTTTGCACCAAGATGAACACAGCTGGTCACAGATAAGGCCATTGCTAGTAACTTTTGGCCATGATGGAAAAGGGCATCCTCTCCACAAAAGAGAAAAACGTCAAGCCAAACACAAACAGCGGAAACGCCTTAAGTCCAGCTGTAAGAGACACCCTTTGTACGTGGACTTCAGTGACGTGGGGTGGAATGACTGGATTGTGGCTCCCCCGGGGTATCACGCCTTTTACTGCCACGGAGAATGCCCTTTTCCTCTGGCTGATCATCTGAACTCCACTAATCATGCCATTGTTCAGACGTTGGTCAACTCTGTTAACTCTAAGATTCCTAAGGCATGCTGTGTCCCGACAGAACTCAGTGCTATCTCGATGCTGTACCTTGACGAGAATGAAAAGGTTGTATTAAAGAACTATCAGGACATGGTTGTGGAGGGTTGTGGGTGTCGCTAGTACAGCAAAATTAAATACATAAATATATATATATATATATATTTTAGAAAAAAGAAAAAAACAAACAAACAAAAAAACCCCACCCCAGTTGACACTTTAATATTTCCCAATGAAGACTTTATTTATGGAATGGAATGGAAAAAAAAACAGCTATTTTGAAAATATATTTATATCTACGAAAAGAAGTTGGGAAAACAAATATTTTAATCAGAGAATTATTCCTTAAAGATTTAAAATGTATTTAGTTGTACATTTTATATGGGTTCAACCCCAGCACATGAAGTATAATGGTCAGATTTATTTTGTATTTATTTACTATTATAACCACTTTTTAGGAAAAAAATAGCTAATTTGTATTTATATGTAATCAAAAGAAGTATCGGGTTTGTACATAATTTTCCAAAAATTGTAGTTGTTTTCAGTTGTGTGTATTTAAGATGAAAAGTCTACATGGAAGGTTACTCTGGCAAAGTGCTTAGCACGTTTGCTTTTTTGCAGTGCTACTGTTGAGTTCACAAGTTCAAGTCCAGAAAAAAAAAGTGGATAATCCACTCTGCTGACTTTCAAGATTATTATATTATTCAATTCTCAGGAATGTTGCAGAGTGATTGTCCAATCCATGAGAATTTACATCCTTATTAGGTGGAATATTTGGATAAGAACCAGACATTGCTGATCTATTATAGAAACTCTCCTCCTGCCCCTTAATTTACAGAAAGAATAAAGCAGGATCCATAGAAATAATTAGGAAAACGATGAACCTGCAGGAAAGTGAATGATGGTTTGTTGTTCTTCTTTCCTAAATTAGTGATCCCTTCAAAGGGGCTGATCTGGCCAAAGTATTCAATAAAACGTAAGATTTCTTCATTATTGATATTGTGGTCATATATATTTAAAATTGATATCTCGTGGCCCTCATCAAGGGTTGGAAATTTATTTGTGTTTTACCTTTACCTCATCTGAGAGCTCTTTATTCTCCAAAGAACCCAGTTTTCTAACTTTTTGCCCAACACGCAGCAAAATTATGCACATCGTGTTTTCTGCCCACCCTCTGTTCTCTGACCTATCAGCTTGCTTTTCTTTCCAAGGTTGTGTGTTTGAACACATTTCTCCAAATGTTAAACCTATTTCAGATAATAAATATCAAATCTCTGGCATTTCATTCTATAAAGTCCAACCTGTAAGAGAAAATGGTGCATTTGTATAGCGCTTACAATGATGACCTTGTGTTTGCATTTTTGTTTCTGAAGTTATANNNNN
|
pathogenic
| 311,234 |
Is the chromosome 20, position 8684855 variant in PLCB1 (phospholipase C beta 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
benign
|
ACAGAAAGAAAATTGGTTATGTGTATTAAAATCCTCAAAAGTATGCGAAGTCTTTGAATCAGAAATTCTATTTCTGGGAATTCATCCTGAAGAAATAATTAAGTATTTATACAAAGATGTAACCATCAGAGCAGTCAATGCAATGTCATTTATACTAGTGAAAAAATTAGAAACAACTTTAATGATCAATGATAATAGAATATTATTTCATATTATACTGCTATATTTTATGATATAAAAATATAGATAGTTGCATATTTTATGCTATAGTTAAATATCCGCATAGAATTTATTTTTACATTAAAAATGTTCATAATATATTGCTCAGTTAATACAAAGGTTACTAAATTATATATATAATTATATGTATGTGTGTATATGCATGATTACAGCTTCATAAAAGAATTATACACACACACGGGTATTTTTCTGGGAGGATACACACCAATGTTTTAGCAGTAGTTATCTCTGAAAGAAAAGTTAGGGATGTTCAAAACAAGTTTTATTTTTTCTCTCTGTTTATCTCATTTCCCAATTTTTCTTTAATGAACATATTCCACTTTTATAGTAATAAAAACTGTTTCAACAAGAAAAAAAAAAGAAATGCTACCCTCCGACATTTGTTGGCAACATATTTACTACCCGCAAATATGTTGTTTGAAGCTTTGATTGTCAAGATTGAAGAAACAAATTGTAGTGATAGACCAAAATACTTAAGATGATCCTATGTATCTATGAAGATTATGACAAAAAATTGTCTCAATACGTGTATCAAAACATCCAGTTGTACACCTTAAATATGTAGTTTTTTAAATTATACCTCAATAAAGTTGACAAAAGAATTTTGTCAATATTTAGTATTAGTCAACTCAGAAAGGTTACAACATAGAAAAATTTCTAAATAGAATCTGAGTAAACTAAATTACCTGTGTCATATTTCTGCCATCTGAAGTAAAATAATTCTTAATATGAGATTTAAAGATCTTTTTTCATGAGCATTCAAATTTTTATTTTCAGGAAAGACTCATTTGTGGGCATCTTTATTTTCTGTTTCAGAGAAAAATATCATTATTTGAAAACACCTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGCGATCTCAGCTCACTGCAAACTCCACCTCCTGGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCACCCGCCACCACACCCGGCTAATTTTTCTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAAACACTTTAACATTATTTTAAATAATAAAACCACTTGTAAATTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTATTTTGAGAAGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCAATGCAACCTCCACCTCCTGGGTGCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGATTACAGGCGCCCACCATGCCCGGGTTAATTTTTGTGTTTTGGGTAGAGAGGAGACTTCGCCATATTGGCCAGGCTGGTCTCGAGCTCCTGACCTCAAGTGATCCACACGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCACTTGTACATAATTTTGATTATAAAGTAACATACATTAATAAGAAAAAAAATTGAAAAATTACCCCAAATTCTATTACACAGAGATAAGCACTGATAACATTTTAGTGCCGATCCATAAAGTTAATACCAGTCTTACATTGGAAAACAGGAGGTTGGTGTTTATTTAAATCCTCTGAAAATTTGGTGGGGCTCATGTAACTACATGTTTTCTCTATTGTCTGTGACATTTGGAAATAATTGTAGTGAAACAGAATAATCCTACACTCTTATTTATCCATACTAAAATGTCTTCTACCTTGGACACTACAAGATATTTCTGGAAAAAAAAAAAAAAAGAGGCGACTTGACACCCATAAAAGAATGCATTCACATCCTTTCTAACTTCATTTCCTCCAGGACAAATATCAGTGGATGGGTTCATGCGCTATCTGAGTGGAGAAGAAAACGGAGTCGTTTCACCTGAGAAACTGGATTTGAATGAAGACATGTCTCAGCCCCTTTCTCACTATTTCATTAATTCCTCGCACAACACCTACCTCACAGGTATGAATTTTCTAGTTCTTTGTTACTTTAGCCAGTCTCACCAAATTTCACCAACCTCTACTTTCTGTTGTTCGGAAGCTGAAGTGTGTTTTCTTCCATTTCCTGCGAAGTGCCTCTGAGAACTCTGGGGTTCCACCACTAAAGCCTCCCGCCTCCCATAAGCAGTCATGTCCACATGTGTATGAAGCAATAGCATCATTTCTCCACAGCCTAAGTTTTTAAGTCTTCTAAAATGCAACCACGGCTGACATTTTCAGATCAATGGGATTTTTGTGTAACTGAACTCATTCTTCAGTGTACTTGAAGCCATGTCCAGTCCTACCCGGTTCTCTGGGCTGTGTTCATCTACATGACAGCTCCGAAGTTCTTAAGTGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGACGGCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGTTCAATATGGCGAAACCCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAATCAGCCAGGCGTGGTGGTGCGTGCCTGTAAACCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACCTGAACCCAAGAGGTGGAGGTTACAGTGAGCCGAGATCACACCACTGCACCCCAACCTGGGTGACAAGAATGAAACTTTGTCTCAAAAGAAAAAAAAAAGAATTAAGTAATTGCTTTTTGTTCAAGGTAGGACAGGGCTTTAGACAAAAACAAATTGACCTGTGAATGACAACTTATACTTTATTGTAAATATTATAATAAAGTAGGATAAAACATCAATGTGTTTCTAATCTGATCTTAAATTAAGCCTTGACCTATTTGGCAGTCTGGTGAAGTGTATGCACCCTTCTCAGAATGCTAAATGCATAAATTAAGTACCTAGAATTAAAGAGGAAATAAATTTCATTGAAATATTTTTATAAAATGTTATGATATATAACCTTGTGTATCTCAGTATTAACACAATTTAAATAAGTATAAGTAAAATGTTGTGATAATTTGCAACAATTGGAATATAATACACAGATCTTGCTAGTGACTTGTAAACTACATACTTAACTGAAGAGAATGTTAAATTTTGTGTAGAGGTTAAAATTAAAACTGTAACCATTCTTTCTCATCCAAGTTCAAGGAGGTTCATGGAATATCACTTTAACAGTCTAGATCTTTGACATGATAAAATTCAAAGAAGTATAATTTTTAAAATCTGAGCACATTATAGAATCTTACATTTATCCTATATTTAGGACCACAAAACTCAAAAATACTTAAATATATGTCCGGTTGAATTTTGGGTATTGTGTGTGATTTTGTTTAAGTGGAAGTCACAATATAGAGTAGATTTTTTACGAATAATCTTTTGAGTCCAAAATACCTTCCAACTGATATATTTATATTCATTACATTCTATTTTATTTGTCATATAATAAATGAGTCAGTAATACCAAAATGATTGAATGACAAGACTGATTGGATATACATTTTATTTTTTCACCTTCTTTCAGAGTATATTAATTTTTCCCTTTCTGACTATCACTAGGGTTTTCAGATTTTATGTATGTTCATTCAATCGCGGCTGCCATTCTCCTTTTGAGAGACCAAATTGTCTCAACTTTGGTTAGTAGGAGACATTTTTAGGCTATCATCTGTGTCCTCTTGACATGACCTATTAATCTTTGAAAGTGTTCTGGCACATAGAGATCTTCCAGACTCACCTTATTCCTTTCTGCTCCAGAGATGGAAACAGACTATTCTCCAGTGAGCCCTGGTTCTTTTTGATGGGAAAGAAAAAGTATGAGTAACAGCAATT
|
ACAGAAAGAAAATTGGTTATGTGTATTAAAATCCTCAAAAGTATGCGAAGTCTTTGAATCAGAAATTCTATTTCTGGGAATTCATCCTGAAGAAATAATTAAGTATTTATACAAAGATGTAACCATCAGAGCAGTCAATGCAATGTCATTTATACTAGTGAAAAAATTAGAAACAACTTTAATGATCAATGATAATAGAATATTATTTCATATTATACTGCTATATTTTATGATATAAAAATATAGATAGTTGCATATTTTATGCTATAGTTAAATATCCGCATAGAATTTATTTTTACATTAAAAATGTTCATAATATATTGCTCAGTTAATACAAAGGTTACTAAATTATATATATAATTATATGTATGTGTGTATATGCATGATTACAGCTTCATAAAAGAATTATACACACACACGGGTATTTTTCTGGGAGGATACACACCAATGTTTTAGCAGTAGTTATCTCTGAAAGAAAAGTTAGGGATGTTCAAAACAAGTTTTATTTTTTCTCTCTGTTTATCTCATTTCCCAATTTTTCTTTAATGAACATATTCCACTTTTATAGTAATAAAAACTGTTTCAACAAGAAAAAAAAAAGAAATGCTACCCTCCGACATTTGTTGGCAACATATTTACTACCCGCAAATATGTTGTTTGAAGCTTTGATTGTCAAGATTGAAGAAACAAATTGTAGTGATAGACCAAAATACTTAAGATGATCCTATGTATCTATGAAGATTATGACAAAAAATTGTCTCAATACGTGTATCAAAACATCCAGTTGTACACCTTAAATATGTAGTTTTTTAAATTATACCTCAATAAAGTTGACAAAAGAATTTTGTCAATATTTAGTATTAGTCAACTCAGAAAGGTTACAACATAGAAAAATTTCTAAATAGAATCTGAGTAAACTAAATTACCTGTGTCATATTTCTGCCATCTGAAGTAAAATAATTCTTAATATGAGATTTAAAGATCTTTTTTCATGAGCATTCAAATTTTTATTTTCAGGAAAGACTCATTTGTGGGCATCTTTATTTTCTGTTTCAGAGAAAAATATCATTATTTGAAAACACCTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGCGATCTCAGCTCACTGCAAACTCCACCTCCTGGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCACCCGCCACCACACCCGGCTAATTTTTCTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAAACACTTTAACATTATTTTAAATAATAAAACCACTTGTAAATTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTATTTTGAGAAGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCAATGCAACCTCCACCTCCTGGGTGCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGATTACAGGCGCCCACCATGCCCGGGTTAATTTTTGTGTTTTGGGTAGAGAGGAGACTTCGCCATATTGGCCAGGCTGGTCTCGAGCTCCTGACCTCAAGTGATCCACACGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCACTTGTACATAATTTTGATTATAAAGTAACATACATTAATAAGAAAAAAAATTGAAAAATTACCCCAAATTCTATTACACAGAGATAAGCACTGATAACATTTTAGTGCCGATCCATAAAGTTAATACCAGTCTTACATTGGAAAACAGGAGGTTGGTGTTTATTTAAATCCTCTGAAAATTTGGTGGGGCTCATGTAACTACATGTTTTCTCTATTGTCTGTGACATTTGGAAATAATTGTAGTGAAACAGAATAATCCTACACTCTTATTTATCCATACTAAAATGTCTTCTACCTTGGACACTACAAGATATTTCTGGAAAAAAAAAAAAAAGAGGCGACTTGACACCCATAAAAGAATGCATTCACATCCTTTCTAACTTCATTTCCTCCAGGACAAATATCAGTGGATGGGTTCATGCGCTATCTGAGTGGAGAAGAAAACGGAGTCGTTTCACCTGAGAAACTGGATTTGAATGAAGACATGTCTCAGCCCCTTTCTCACTATTTCATTAATTCCTCGCACAACACCTACCTCACAGGTATGAATTTTCTAGTTCTTTGTTACTTTAGCCAGTCTCACCAAATTTCACCAACCTCTACTTTCTGTTGTTCGGAAGCTGAAGTGTGTTTTCTTCCATTTCCTGCGAAGTGCCTCTGAGAACTCTGGGGTTCCACCACTAAAGCCTCCCGCCTCCCATAAGCAGTCATGTCCACATGTGTATGAAGCAATAGCATCATTTCTCCACAGCCTAAGTTTTTAAGTCTTCTAAAATGCAACCACGGCTGACATTTTCAGATCAATGGGATTTTTGTGTAACTGAACTCATTCTTCAGTGTACTTGAAGCCATGTCCAGTCCTACCCGGTTCTCTGGGCTGTGTTCATCTACATGACAGCTCCGAAGTTCTTAAGTGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGACGGCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGTTCAATATGGCGAAACCCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAATCAGCCAGGCGTGGTGGTGCGTGCCTGTAAACCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACCTGAACCCAAGAGGTGGAGGTTACAGTGAGCCGAGATCACACCACTGCACCCCAACCTGGGTGACAAGAATGAAACTTTGTCTCAAAAGAAAAAAAAAAGAATTAAGTAATTGCTTTTTGTTCAAGGTAGGACAGGGCTTTAGACAAAAACAAATTGACCTGTGAATGACAACTTATACTTTATTGTAAATATTATAATAAAGTAGGATAAAACATCAATGTGTTTCTAATCTGATCTTAAATTAAGCCTTGACCTATTTGGCAGTCTGGTGAAGTGTATGCACCCTTCTCAGAATGCTAAATGCATAAATTAAGTACCTAGAATTAAAGAGGAAATAAATTTCATTGAAATATTTTTATAAAATGTTATGATATATAACCTTGTGTATCTCAGTATTAACACAATTTAAATAAGTATAAGTAAAATGTTGTGATAATTTGCAACAATTGGAATATAATACACAGATCTTGCTAGTGACTTGTAAACTACATACTTAACTGAAGAGAATGTTAAATTTTGTGTAGAGGTTAAAATTAAAACTGTAACCATTCTTTCTCATCCAAGTTCAAGGAGGTTCATGGAATATCACTTTAACAGTCTAGATCTTTGACATGATAAAATTCAAAGAAGTATAATTTTTAAAATCTGAGCACATTATAGAATCTTACATTTATCCTATATTTAGGACCACAAAACTCAAAAATACTTAAATATATGTCCGGTTGAATTTTGGGTATTGTGTGTGATTTTGTTTAAGTGGAAGTCACAATATAGAGTAGATTTTTTACGAATAATCTTTTGAGTCCAAAATACCTTCCAACTGATATATTTATATTCATTACATTCTATTTTATTTGTCATATAATAAATGAGTCAGTAATACCAAAATGATTGAATGACAAGACTGATTGGATATACATTTTATTTTTTCACCTTCTTTCAGAGTATATTAATTTTTCCCTTTCTGACTATCACTAGGGTTTTCAGATTTTATGTATGTTCATTCAATCGCGGCTGCCATTCTCCTTTTGAGAGACCAAATTGTCTCAACTTTGGTTAGTAGGAGACATTTTTAGGCTATCATCTGTGTCCTCTTGACATGACCTATTAATCTTTGAAAGTGTTCTGGCACATAGAGATCTTCCAGACTCACCTTATTCCTTTCTGCTCCAGAGATGGAAACAGACTATTCTCCAGTGAGCCCTGGTTCTTTTTGATGGGAAAGAAAAAGTATGAGTAACAGCAATTN
|
benign
| 311,272 |
Regarding the variant at chromosome 20 and position 10405546, affecting gene MKKS (MKKS centrosomal shuttling protein): benign or pathogenic? If pathogenic, what are the associated illness(es)?
|
pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']
|
GAATCACCCCAGGCTTCCTCAGGAGGTAGTTCTTTAAGTACAGTTCCTGGAACACAGTTGCTTTCCATCTGTAGACCCATGAAACTAGAGAAAAGTTATCTGCCTTCTACTCACAGCATAAAATTATGGATAAGGCATAACCATAACCATCACCATAACATTCTGTCCACAAAGCTGGGAAATGGGAGACATAAAGGAGTCACTAAGTCTAGCCCATGCTCAAGGGGAGGAAATTATGCAAGGTCTGAAACTAGGAGGTGGGGCCACCTTAGAGGCTGCCTACCACACTGCCCTTCTATTTGATTGTAATAATAAAAGGAGTAAAACTTTTGATAAATATTTTATGAGACTTCAGGTGGGGCTGATACCTAACATATATGGATGGCATTGCTGCTTGTATTGCTAGTTTTTTCCTTTGGCTCAGAGTAAAAATTCTTTTTGATTACAAGAATATCAGAGGAAATTGTTTAACAATTCTATTTCTCTTTATCATGGCTATAGATCTGATCATTGACTATTAGGTTGGTTTGTTTCCCAAAAATTTCCAAAATATTTTCCTAAAGTTTAATACAACATTTGTTATAGCTCCATGCTTATTCATGTGGCTGCCTTCTATATTTCTTCTTCAATTTATCAATACATCTTATATTTGCATAAAATTCAAACTACATCCCTTGGTGAAACATAATGTCTCTACTTTGAACATGGGAGATTTTCTACTTTCTTTTTCATACTATTGACTAGAGAAATAACTTCCCCTTCCCTTTATGCTGCTTTCTGAAGTCCTGCTAGAATACTCCTTATTGTCCTTCCTTTTTCTATCAGTCTATGGTTCTCAACCAACAACAGTTTTGCTCTTCGGGGGACATTTGGCAATGTCTGGAAACATTTTTGGTTGTCACAACAGGAGGGTGCTACTGGCATCTAGTGTGCAGAGGCCAGGGATGCTGCTCAGTAAGCTGTAATGCACAGGGCAGCCTCCGTACAACAAAGAATTATGGGGCTCAGAATGTCAATAATGCCAAAGTTGAGAAACCCCAGTGTAAAACAAACCAGTCCTTCTTCCCACTTTAAAAATGAAGACATTACAATGTTGCTTTAGCCTTGGTTACTATATAAATCTACTTTTTCCCCCCAAAAGCAAACATTTCCCCAAAATAACAAAAATGTGGAGTTGTGATATAAACTACAAATTGCAGGCAAACCAGGTTCTACTCAATTACCTAACCACTGAAGAATATAGCTTGAGATAAAGGGCATGGAGAAAAGTGAAATTTTACTAAATGTGCAGTTTGAATACTTCTTTTGATTGAGCAATATATACTGAATGTTTTGTGACACTTTGAGATCTAGTTTTATACTTTAAGCATATGTAATTACTGCTAACTGGAAAATATCTAAAATATGTATATCCAAACTAGAGCATGGATTAGGAGTCTTTTTTATTTGTTTGCTCTCAAAATGATGCCAACATAACAAAAATTTAGAACAATGTACAGCAGCCAGTATAGAATCCCTAAGATAACTATAATATTTTTAAATAAATAATGCTTCATATTTTTATTGTTTCATGGCATTTCCATTCACGAATCACCTTTTTTCCTAAATAAGTGTATCTATAATTTTATGAGTCATTTGTCCAAATATGTAGAACAGGGCTTTGGGAGAAAACAAATACACTCACAATTTTTCTCAATTGCCAACAGACTAGTTTATTTGTTTCTCTTGTAATACGAACATGCTATTCTCTTAGTTTTTATCTTCAATAACATATGAAAGATCCAAAATCAAATTGGCTGTCTCTACAGCCACCTGTAGGCCACTAAGCTTTGCAGTCAAACAGTCCAAGGTCAGGTTGCTGGCTGAGCCCACAGCTTCATGTGGAAGGCAGCTTTGTGGCACAAATGGACGACGTGTGCTTCTTAAGAAAGACCAGTTGAGTTCTTCCTGGCTATTGTATAATCCACAGCCACACTGTGAAAGCAAATCTGGCCAGTTAGCAACACAGGGAGAATCTGCCTGAACTGACCAAAGGTGTCCATACTTCATGTCAGTGAGAATTTCACCTCCATCATGTTCTAAAGAGCCAACAACAGATTCTAGGGCACTGCAAAATGCTTCAGCAATTAATTGAAGTTCTGTTTGAGTACATTCATCATCTTTGAGAATGCTTTCTGGGTCGTTGTGAGTCTAAAGAGTAATAAAAACATTGAAAACACATACAAAGCAATTAATATAAAATGTTTCAGAAAAATAAGATACTGAAATCAAAATCTTATTCCTAAAGTAATTACTTACTTTCATTTAATTTGGGGTCTGGCACAATGCTAACGGGCTTGTATGGGTCAGCCGGCCGGGTTGCAAACCCTTAACTAGGTTGGTTATAGTAAAAATGTATTAAAAATGTATATACTACCAGTCATGTTACCAGAATGAGTGAATCAGAATAACCCCACCATCAGCTTATTCTGAATGAGGCTTGGTAGTGCCTCCTTAATACATGAAGGACTAGGCATAATACATGTATTACAGGTTTTTCTGCACACAGGAGGAAGTTCCTGAAGACTGATGTCCCAAATGGAGTACTTATTTATCTCTGCAAAATGTTTGAGATTTGCTTAAAATGGGAATGCACATATTTTTATTTGGAAATCATGATGTAAATTTTCATATCAATGTTTTAAAAATGAATATTCTTCTCTTTAAATTAATGAAAAGGTAATAAGACCTTAAACAGTCTTCTGGTTCCACTATTTAAAAATGTTTATCCTAGAAATTCCATGATAAAAAGAAAAATTAATATATAGCCATGCACCACATACCAACACTTCAGTCAATGATAGACTGCATATACAACAGTGGTCCCATAAGATTATAAGGCCATATTTTTACTAACCTTTTCTGTGTGTTGATATGTTTAGATACATAAATACCATTGTGTTACAATTACCTACAGTATTCAGTACAGTAATATGCTGTAAGGGTTTGTAGCCTAGGAGCAATAGGCTATACCACATAGCTTAGGAGTGTGGTAGGCTCTACCATGTAGGTTTGTGCAAGTACACTCTATATTGTTTGCACAACAATATTGTCTAATGATGCATTTCTCAGAATATATCTTTGTTAAGCAACATGTCTGTATTAGCAAACTAATAACTGAATGATGGGTTAAAAAATCCATATCTTAACTGCTTAAAAACAGTGACTACTTTCCTACTCAAGACACCTCCTTCCTCTAAAAAACTTTCTCTAGTTTATCAATTCCATTTCAGAATACATTATTGTCCATTCAGCACCAATAGATTGGCACAAATTTTGTTTTCCATAATGTATATTCTGATAACTTTTCATGAATGTGCTTTATCTTCAAAGAGATTCTAAGTTATTTGGGGAAGGACAGGGCATGTTTACCCAATGAATCGATTGCTAATATCTGGAAAACACCTATACCTTTTTCTATCCATTTTCAAATAAAGTAGGCCAGTACTTATGAAATAATCAGAACAACAATGCACTAAACTTATCTGAGAGCTGTCAGGAAATGGAGTTTCCTAGACCAATCAAAAAATTCTATTTAGTATAATTAATAAATAACATACATAAATACCAATTTTAAAATTATAATAGAATCTAATATGTGAATTGCTTAAATAAATGAAACTTTTCTTGATGCTCTAGAAGATACTGAAGTATTCTGTAGAAACTTGGCCCTTTTGTTTGTGAACATCAATTATTACTGTATTGCAGCAGTTGAGATCTCTAAGAGAACTCCCAATAACAGAATGCTAGCTTCAACATGCAGAACATGTAGACAATACTCAAAGAACGTGATCGCTTGCTTAAATATTTTTATAATAATCATTGTAATAAGGATATTACCTTATATTTACCTTGTTATTTCCCTCAAGTGTTTTTGATTATCTACTTTATTTAGACTACTGAAAAATTCAGTGTTAAAGGCTACAAGTTTACCTGTATAACAAACCTATACATGCACCCCTGAACCTAAAAGTTAAAACTAACAAAAAGACTATAGGATATTATGATTTTGGCTTATTATCTCAGAAAACAAAAGTTGCTGAGAATTCAGGTAATC
|
GAATCACCCCAGGCTTCCTCAGGAGGTAGTTCTTTAAGTACAGTTCCTGGAACACAGTTGCTTTCCATCTGTAGACCCATGAAACTAGAGAAAAGTTATCTGCCTTCTACTCACAGCATAAAATTATGGATAAGGCATAACCATAACCATCACCATAACATTCTGTCCACAAAGCTGGGAAATGGGAGACATAAAGGAGTCACTAAGTCTAGCCCATGCTCAAGGGGAGGAAATTATGCAAGGTCTGAAACTAGGAGGTGGGGCCACCTTAGAGGCTGCCTACCACACTGCCCTTCTATTTGATTGTAATAATAAAAGGAGTAAAACTTTTGATAAATATTTTATGAGACTTCAGGTGGGGCTGATACCTAACATATATGGATGGCATTGCTGCTTGTATTGCTAGTTTTTTCCTTTGGCTCAGAGTAAAAATTCTTTTTGATTACAAGAATATCAGAGGAAATTGTTTAACAATTCTATTTCTCTTTATCATGGCTATAGATCTGATCATTGACTATTAGGTTGGTTTGTTTCCCAAAAATTTCCAAAATATTTTCCTAAAGTTTAATACAACATTTGTTATAGCTCCATGCTTATTCATGTGGCTGCCTTCTATATTTCTTCTTCAATTTATCAATACATCTTATATTTGCATAAAATTCAAACTACATCCCTTGGTGAAACATAATGTCTCTACTTTGAACATGGGAGATTTTCTACTTTCTTTTTCATACTATTGACTAGAGAAATAACTTCCCCTTCCCTTTATGCTGCTTTCTGAAGTCCTGCTAGAATACTCCTTATTGTCCTTCCTTTTTCTATCAGTCTATGGTTCTCAACCAACAACAGTTTTGCTCTTCGGGGGACATTTGGCAATGTCTGGAAACATTTTTGGTTGTCACAACAGGAGGGTGCTACTGGCATCTAGTGTGCAGAGGCCAGGGATGCTGCTCAGTAAGCTGTAATGCACAGGGCAGCCTCCGTACAACAAAGAATTATGGGGCTCAGAATGTCAATAATGCCAAAGTTGAGAAACCCCAGTGTAAAACAAACCAGTCCTTCTTCCCACTTTAAAAATGAAGACATTACAATGTTGCTTTAGCCTTGGTTACTATATAAATCTACTTTTTCCCCCCAAAAGCAAACATTTCCCCAAAATAACAAAAATGTGGAGTTGTGATATAAACTACAAATTGCAGGCAAACCAGGTTCTACTCAATTACCTAACCACTGAAGAATATAGCTTGAGATAAAGGGCATGGAGAAAAGTGAAATTTTACTAAATGTGCAGTTTGAATACTTCTTTTGATTGAGCAATATATACTGAATGTTTTGTGACACTTTGAGATCTAGTTTTATACTTTAAGCATATGTAATTACTGCTAACTGGAAAATATCTAAAATATGTATATCCAAACTAGAGCATGGATTAGGAGTCTTTTTTATTTGTTTGCTCTCAAAATGATGCCAACATAACAAAAATTTAGAACAATGTACAGCAGCCAGTATAGAATCCCTAAGATAACTATAATATTTTTAAATAAATAATGCTTCATATTTTTATTGTTTCATGGCATTTCCATTCACGAATCACCTTTTTTCCTAAATAAGTGTATCTATAATTTTATGAGTCATTTGTCCAAATATGTAGAACAGGGCTTTGGGAGAAAACAAATACACTCACAATTTTTCTCAATTGCCAACAGACTAGTTTATTTGTTTCTCTTGTAATACGAACATGCTATTCTCTTAGTTTTTATCTTCAATAACATATGAAAGATCCAAAATCAAATTGGCTGTCTCTACAGCCACCTGTAGGCCACTAAGCTTTGCAGTCAAACAGTCCAAGGTCAGGTTGCTGGCTGAGCCCACAGCTTCATGTGGAAGGCAGCTTTGTGGCACAAATGGACGACGTGTGCTTCTTAAGAAAGACCAGTTGAGTTCTTCCTGGCTATTGTATAATCCACAGCCACACTGTGAAAGCAAATCTGGCCAGTTAGCAACACAGGGAGAATCTGCCTGAACTGACCAAAGGTGTCCATACTTCATGTGAGAATTTCACCTCCATCATGTTCTAAAGAGCCAACAACAGATTCTAGGGCACTGCAAAATGCTTCAGCAATTAATTGAAGTTCTGTTTGAGTACATTCATCATCTTTGAGAATGCTTTCTGGGTCGTTGTGAGTCTAAAGAGTAATAAAAACATTGAAAACACATACAAAGCAATTAATATAAAATGTTTCAGAAAAATAAGATACTGAAATCAAAATCTTATTCCTAAAGTAATTACTTACTTTCATTTAATTTGGGGTCTGGCACAATGCTAACGGGCTTGTATGGGTCAGCCGGCCGGGTTGCAAACCCTTAACTAGGTTGGTTATAGTAAAAATGTATTAAAAATGTATATACTACCAGTCATGTTACCAGAATGAGTGAATCAGAATAACCCCACCATCAGCTTATTCTGAATGAGGCTTGGTAGTGCCTCCTTAATACATGAAGGACTAGGCATAATACATGTATTACAGGTTTTTCTGCACACAGGAGGAAGTTCCTGAAGACTGATGTCCCAAATGGAGTACTTATTTATCTCTGCAAAATGTTTGAGATTTGCTTAAAATGGGAATGCACATATTTTTATTTGGAAATCATGATGTAAATTTTCATATCAATGTTTTAAAAATGAATATTCTTCTCTTTAAATTAATGAAAAGGTAATAAGACCTTAAACAGTCTTCTGGTTCCACTATTTAAAAATGTTTATCCTAGAAATTCCATGATAAAAAGAAAAATTAATATATAGCCATGCACCACATACCAACACTTCAGTCAATGATAGACTGCATATACAACAGTGGTCCCATAAGATTATAAGGCCATATTTTTACTAACCTTTTCTGTGTGTTGATATGTTTAGATACATAAATACCATTGTGTTACAATTACCTACAGTATTCAGTACAGTAATATGCTGTAAGGGTTTGTAGCCTAGGAGCAATAGGCTATACCACATAGCTTAGGAGTGTGGTAGGCTCTACCATGTAGGTTTGTGCAAGTACACTCTATATTGTTTGCACAACAATATTGTCTAATGATGCATTTCTCAGAATATATCTTTGTTAAGCAACATGTCTGTATTAGCAAACTAATAACTGAATGATGGGTTAAAAAATCCATATCTTAACTGCTTAAAAACAGTGACTACTTTCCTACTCAAGACACCTCCTTCCTCTAAAAAACTTTCTCTAGTTTATCAATTCCATTTCAGAATACATTATTGTCCATTCAGCACCAATAGATTGGCACAAATTTTGTTTTCCATAATGTATATTCTGATAACTTTTCATGAATGTGCTTTATCTTCAAAGAGATTCTAAGTTATTTGGGGAAGGACAGGGCATGTTTACCCAATGAATCGATTGCTAATATCTGGAAAACACCTATACCTTTTTCTATCCATTTTCAAATAAAGTAGGCCAGTACTTATGAAATAATCAGAACAACAATGCACTAAACTTATCTGAGAGCTGTCAGGAAATGGAGTTTCCTAGACCAATCAAAAAATTCTATTTAGTATAATTAATAAATAACATACATAAATACCAATTTTAAAATTATAATAGAATCTAATATGTGAATTGCTTAAATAAATGAAACTTTTCTTGATGCTCTAGAAGATACTGAAGTATTCTGTAGAAACTTGGCCCTTTTGTTTGTGAACATCAATTATTACTGTATTGCAGCAGTTGAGATCTCTAAGAGAACTCCCAATAACAGAATGCTAGCTTCAACATGCAGAACATGTAGACAATACTCAAAGAACGTGATCGCTTGCTTAAATATTTTTATAATAATCATTGTAATAAGGATATTACCTTATATTTACCTTGTTATTTCCCTCAAGTGTTTTTGATTATCTACTTTATTTAGACTACTGAAAAATTCAGTGTTAAAGGCTACAAGTTTACCTGTATAACAAACCTATACATGCACCCCTGAACCTAAAAGTTAAAACTAACAAAAAGACTATAGGATATTATGATTTTGGCTTATTATCTCAGAAAACAAAAGTTGCTGAGAATTCAGGTAATCNNNN
|
pathogenic
| 311,465 |
Benign or pathogenic: chromosome 20, position 10405591, gene MKKS (MKKS centrosomal shuttling protein) variant? Disease(s) if pathogenic?
|
pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']
|
CCTGGAACACAGTTGCTTTCCATCTGTAGACCCATGAAACTAGAGAAAAGTTATCTGCCTTCTACTCACAGCATAAAATTATGGATAAGGCATAACCATAACCATCACCATAACATTCTGTCCACAAAGCTGGGAAATGGGAGACATAAAGGAGTCACTAAGTCTAGCCCATGCTCAAGGGGAGGAAATTATGCAAGGTCTGAAACTAGGAGGTGGGGCCACCTTAGAGGCTGCCTACCACACTGCCCTTCTATTTGATTGTAATAATAAAAGGAGTAAAACTTTTGATAAATATTTTATGAGACTTCAGGTGGGGCTGATACCTAACATATATGGATGGCATTGCTGCTTGTATTGCTAGTTTTTTCCTTTGGCTCAGAGTAAAAATTCTTTTTGATTACAAGAATATCAGAGGAAATTGTTTAACAATTCTATTTCTCTTTATCATGGCTATAGATCTGATCATTGACTATTAGGTTGGTTTGTTTCCCAAAAATTTCCAAAATATTTTCCTAAAGTTTAATACAACATTTGTTATAGCTCCATGCTTATTCATGTGGCTGCCTTCTATATTTCTTCTTCAATTTATCAATACATCTTATATTTGCATAAAATTCAAACTACATCCCTTGGTGAAACATAATGTCTCTACTTTGAACATGGGAGATTTTCTACTTTCTTTTTCATACTATTGACTAGAGAAATAACTTCCCCTTCCCTTTATGCTGCTTTCTGAAGTCCTGCTAGAATACTCCTTATTGTCCTTCCTTTTTCTATCAGTCTATGGTTCTCAACCAACAACAGTTTTGCTCTTCGGGGGACATTTGGCAATGTCTGGAAACATTTTTGGTTGTCACAACAGGAGGGTGCTACTGGCATCTAGTGTGCAGAGGCCAGGGATGCTGCTCAGTAAGCTGTAATGCACAGGGCAGCCTCCGTACAACAAAGAATTATGGGGCTCAGAATGTCAATAATGCCAAAGTTGAGAAACCCCAGTGTAAAACAAACCAGTCCTTCTTCCCACTTTAAAAATGAAGACATTACAATGTTGCTTTAGCCTTGGTTACTATATAAATCTACTTTTTCCCCCCAAAAGCAAACATTTCCCCAAAATAACAAAAATGTGGAGTTGTGATATAAACTACAAATTGCAGGCAAACCAGGTTCTACTCAATTACCTAACCACTGAAGAATATAGCTTGAGATAAAGGGCATGGAGAAAAGTGAAATTTTACTAAATGTGCAGTTTGAATACTTCTTTTGATTGAGCAATATATACTGAATGTTTTGTGACACTTTGAGATCTAGTTTTATACTTTAAGCATATGTAATTACTGCTAACTGGAAAATATCTAAAATATGTATATCCAAACTAGAGCATGGATTAGGAGTCTTTTTTATTTGTTTGCTCTCAAAATGATGCCAACATAACAAAAATTTAGAACAATGTACAGCAGCCAGTATAGAATCCCTAAGATAACTATAATATTTTTAAATAAATAATGCTTCATATTTTTATTGTTTCATGGCATTTCCATTCACGAATCACCTTTTTTCCTAAATAAGTGTATCTATAATTTTATGAGTCATTTGTCCAAATATGTAGAACAGGGCTTTGGGAGAAAACAAATACACTCACAATTTTTCTCAATTGCCAACAGACTAGTTTATTTGTTTCTCTTGTAATACGAACATGCTATTCTCTTAGTTTTTATCTTCAATAACATATGAAAGATCCAAAATCAAATTGGCTGTCTCTACAGCCACCTGTAGGCCACTAAGCTTTGCAGTCAAACAGTCCAAGGTCAGGTTGCTGGCTGAGCCCACAGCTTCATGTGGAAGGCAGCTTTGTGGCACAAATGGACGACGTGTGCTTCTTAAGAAAGACCAGTTGAGTTCTTCCTGGCTATTGTATAATCCACAGCCACACTGTGAAAGCAAATCTGGCCAGTTAGCAACACAGGGAGAATCTGCCTGAACTGACCAAAGGTGTCCATACTTCATGTCAGTGAGAATTTCACCTCCATCATGTTCTAAAGAGCCAACAACAGATTCTAGGGCACTGCAAAATGCTTCAGCAATTAATTGAAGTTCTGTTTGAGTACATTCATCATCTTTGAGAATGCTTTCTGGGTCGTTGTGAGTCTAAAGAGTAATAAAAACATTGAAAACACATACAAAGCAATTAATATAAAATGTTTCAGAAAAATAAGATACTGAAATCAAAATCTTATTCCTAAAGTAATTACTTACTTTCATTTAATTTGGGGTCTGGCACAATGCTAACGGGCTTGTATGGGTCAGCCGGCCGGGTTGCAAACCCTTAACTAGGTTGGTTATAGTAAAAATGTATTAAAAATGTATATACTACCAGTCATGTTACCAGAATGAGTGAATCAGAATAACCCCACCATCAGCTTATTCTGAATGAGGCTTGGTAGTGCCTCCTTAATACATGAAGGACTAGGCATAATACATGTATTACAGGTTTTTCTGCACACAGGAGGAAGTTCCTGAAGACTGATGTCCCAAATGGAGTACTTATTTATCTCTGCAAAATGTTTGAGATTTGCTTAAAATGGGAATGCACATATTTTTATTTGGAAATCATGATGTAAATTTTCATATCAATGTTTTAAAAATGAATATTCTTCTCTTTAAATTAATGAAAAGGTAATAAGACCTTAAACAGTCTTCTGGTTCCACTATTTAAAAATGTTTATCCTAGAAATTCCATGATAAAAAGAAAAATTAATATATAGCCATGCACCACATACCAACACTTCAGTCAATGATAGACTGCATATACAACAGTGGTCCCATAAGATTATAAGGCCATATTTTTACTAACCTTTTCTGTGTGTTGATATGTTTAGATACATAAATACCATTGTGTTACAATTACCTACAGTATTCAGTACAGTAATATGCTGTAAGGGTTTGTAGCCTAGGAGCAATAGGCTATACCACATAGCTTAGGAGTGTGGTAGGCTCTACCATGTAGGTTTGTGCAAGTACACTCTATATTGTTTGCACAACAATATTGTCTAATGATGCATTTCTCAGAATATATCTTTGTTAAGCAACATGTCTGTATTAGCAAACTAATAACTGAATGATGGGTTAAAAAATCCATATCTTAACTGCTTAAAAACAGTGACTACTTTCCTACTCAAGACACCTCCTTCCTCTAAAAAACTTTCTCTAGTTTATCAATTCCATTTCAGAATACATTATTGTCCATTCAGCACCAATAGATTGGCACAAATTTTGTTTTCCATAATGTATATTCTGATAACTTTTCATGAATGTGCTTTATCTTCAAAGAGATTCTAAGTTATTTGGGGAAGGACAGGGCATGTTTACCCAATGAATCGATTGCTAATATCTGGAAAACACCTATACCTTTTTCTATCCATTTTCAAATAAAGTAGGCCAGTACTTATGAAATAATCAGAACAACAATGCACTAAACTTATCTGAGAGCTGTCAGGAAATGGAGTTTCCTAGACCAATCAAAAAATTCTATTTAGTATAATTAATAAATAACATACATAAATACCAATTTTAAAATTATAATAGAATCTAATATGTGAATTGCTTAAATAAATGAAACTTTTCTTGATGCTCTAGAAGATACTGAAGTATTCTGTAGAAACTTGGCCCTTTTGTTTGTGAACATCAATTATTACTGTATTGCAGCAGTTGAGATCTCTAAGAGAACTCCCAATAACAGAATGCTAGCTTCAACATGCAGAACATGTAGACAATACTCAAAGAACGTGATCGCTTGCTTAAATATTTTTATAATAATCATTGTAATAAGGATATTACCTTATATTTACCTTGTTATTTCCCTCAAGTGTTTTTGATTATCTACTTTATTTAGACTACTGAAAAATTCAGTGTTAAAGGCTACAAGTTTACCTGTATAACAAACCTATACATGCACCCCTGAACCTAAAAGTTAAAACTAACAAAAAGACTATAGGATATTATGATTTTGGCTTATTATCTCAGAAAACAAAAGTTGCTGAGAATTCAGGTAATCCGAAGAGGATTATCTTACATACCTTGTGTCTGATATATGCAGCCA
|
CCTGGAACACAGTTGCTTTCCATCTGTAGACCCATGAAACTAGAGAAAAGTTATCTGCCTTCTACTCACAGCATAAAATTATGGATAAGGCATAACCATAACCATCACCATAACATTCTGTCCACAAAGCTGGGAAATGGGAGACATAAAGGAGTCACTAAGTCTAGCCCATGCTCAAGGGGAGGAAATTATGCAAGGTCTGAAACTAGGAGGTGGGGCCACCTTAGAGGCTGCCTACCACACTGCCCTTCTATTTGATTGTAATAATAAAAGGAGTAAAACTTTTGATAAATATTTTATGAGACTTCAGGTGGGGCTGATACCTAACATATATGGATGGCATTGCTGCTTGTATTGCTAGTTTTTTCCTTTGGCTCAGAGTAAAAATTCTTTTTGATTACAAGAATATCAGAGGAAATTGTTTAACAATTCTATTTCTCTTTATCATGGCTATAGATCTGATCATTGACTATTAGGTTGGTTTGTTTCCCAAAAATTTCCAAAATATTTTCCTAAAGTTTAATACAACATTTGTTATAGCTCCATGCTTATTCATGTGGCTGCCTTCTATATTTCTTCTTCAATTTATCAATACATCTTATATTTGCATAAAATTCAAACTACATCCCTTGGTGAAACATAATGTCTCTACTTTGAACATGGGAGATTTTCTACTTTCTTTTTCATACTATTGACTAGAGAAATAACTTCCCCTTCCCTTTATGCTGCTTTCTGAAGTCCTGCTAGAATACTCCTTATTGTCCTTCCTTTTTCTATCAGTCTATGGTTCTCAACCAACAACAGTTTTGCTCTTCGGGGGACATTTGGCAATGTCTGGAAACATTTTTGGTTGTCACAACAGGAGGGTGCTACTGGCATCTAGTGTGCAGAGGCCAGGGATGCTGCTCAGTAAGCTGTAATGCACAGGGCAGCCTCCGTACAACAAAGAATTATGGGGCTCAGAATGTCAATAATGCCAAAGTTGAGAAACCCCAGTGTAAAACAAACCAGTCCTTCTTCCCACTTTAAAAATGAAGACATTACAATGTTGCTTTAGCCTTGGTTACTATATAAATCTACTTTTTCCCCCCAAAAGCAAACATTTCCCCAAAATAACAAAAATGTGGAGTTGTGATATAAACTACAAATTGCAGGCAAACCAGGTTCTACTCAATTACCTAACCACTGAAGAATATAGCTTGAGATAAAGGGCATGGAGAAAAGTGAAATTTTACTAAATGTGCAGTTTGAATACTTCTTTTGATTGAGCAATATATACTGAATGTTTTGTGACACTTTGAGATCTAGTTTTATACTTTAAGCATATGTAATTACTGCTAACTGGAAAATATCTAAAATATGTATATCCAAACTAGAGCATGGATTAGGAGTCTTTTTTATTTGTTTGCTCTCAAAATGATGCCAACATAACAAAAATTTAGAACAATGTACAGCAGCCAGTATAGAATCCCTAAGATAACTATAATATTTTTAAATAAATAATGCTTCATATTTTTATTGTTTCATGGCATTTCCATTCACGAATCACCTTTTTTCCTAAATAAGTGTATCTATAATTTTATGAGTCATTTGTCCAAATATGTAGAACAGGGCTTTGGGAGAAAACAAATACACTCACAATTTTTCTCAATTGCCAACAGACTAGTTTATTTGTTTCTCTTGTAATACGAACATGCTATTCTCTTAGTTTTTATCTTCAATAACATATGAAAGATCCAAAATCAAATTGGCTGTCTCTACAGCCACCTGTAGGCCACTAAGCTTTGCAGTCAAACAGTCCAAGGTCAGGTTGCTGGCTGAGCCCACAGCTTCATGTGGAAGGCAGCTTTGTGGCACAAATGGACGACGTGTGCTTCTTAAGAAAGACCAGTTGAGTTCTTCCTGGCTATTGTATAATCCACAGCCACACTGTGAAAGCAAATCTGGCCAGTTAGCAACACAGGGAGAATCTGCCTGAACTGACCAAAGGTGTCCATACTTCATGTCAGTGAGAATTTCACCTCCATCATGTTCTAAAGAGCCAACAACGATTCTAGGGCACTGCAAAATGCTTCAGCAATTAATTGAAGTTCTGTTTGAGTACATTCATCATCTTTGAGAATGCTTTCTGGGTCGTTGTGAGTCTAAAGAGTAATAAAAACATTGAAAACACATACAAAGCAATTAATATAAAATGTTTCAGAAAAATAAGATACTGAAATCAAAATCTTATTCCTAAAGTAATTACTTACTTTCATTTAATTTGGGGTCTGGCACAATGCTAACGGGCTTGTATGGGTCAGCCGGCCGGGTTGCAAACCCTTAACTAGGTTGGTTATAGTAAAAATGTATTAAAAATGTATATACTACCAGTCATGTTACCAGAATGAGTGAATCAGAATAACCCCACCATCAGCTTATTCTGAATGAGGCTTGGTAGTGCCTCCTTAATACATGAAGGACTAGGCATAATACATGTATTACAGGTTTTTCTGCACACAGGAGGAAGTTCCTGAAGACTGATGTCCCAAATGGAGTACTTATTTATCTCTGCAAAATGTTTGAGATTTGCTTAAAATGGGAATGCACATATTTTTATTTGGAAATCATGATGTAAATTTTCATATCAATGTTTTAAAAATGAATATTCTTCTCTTTAAATTAATGAAAAGGTAATAAGACCTTAAACAGTCTTCTGGTTCCACTATTTAAAAATGTTTATCCTAGAAATTCCATGATAAAAAGAAAAATTAATATATAGCCATGCACCACATACCAACACTTCAGTCAATGATAGACTGCATATACAACAGTGGTCCCATAAGATTATAAGGCCATATTTTTACTAACCTTTTCTGTGTGTTGATATGTTTAGATACATAAATACCATTGTGTTACAATTACCTACAGTATTCAGTACAGTAATATGCTGTAAGGGTTTGTAGCCTAGGAGCAATAGGCTATACCACATAGCTTAGGAGTGTGGTAGGCTCTACCATGTAGGTTTGTGCAAGTACACTCTATATTGTTTGCACAACAATATTGTCTAATGATGCATTTCTCAGAATATATCTTTGTTAAGCAACATGTCTGTATTAGCAAACTAATAACTGAATGATGGGTTAAAAAATCCATATCTTAACTGCTTAAAAACAGTGACTACTTTCCTACTCAAGACACCTCCTTCCTCTAAAAAACTTTCTCTAGTTTATCAATTCCATTTCAGAATACATTATTGTCCATTCAGCACCAATAGATTGGCACAAATTTTGTTTTCCATAATGTATATTCTGATAACTTTTCATGAATGTGCTTTATCTTCAAAGAGATTCTAAGTTATTTGGGGAAGGACAGGGCATGTTTACCCAATGAATCGATTGCTAATATCTGGAAAACACCTATACCTTTTTCTATCCATTTTCAAATAAAGTAGGCCAGTACTTATGAAATAATCAGAACAACAATGCACTAAACTTATCTGAGAGCTGTCAGGAAATGGAGTTTCCTAGACCAATCAAAAAATTCTATTTAGTATAATTAATAAATAACATACATAAATACCAATTTTAAAATTATAATAGAATCTAATATGTGAATTGCTTAAATAAATGAAACTTTTCTTGATGCTCTAGAAGATACTGAAGTATTCTGTAGAAACTTGGCCCTTTTGTTTGTGAACATCAATTATTACTGTATTGCAGCAGTTGAGATCTCTAAGAGAACTCCCAATAACAGAATGCTAGCTTCAACATGCAGAACATGTAGACAATACTCAAAGAACGTGATCGCTTGCTTAAATATTTTTATAATAATCATTGTAATAAGGATATTACCTTATATTTACCTTGTTATTTCCCTCAAGTGTTTTTGATTATCTACTTTATTTAGACTACTGAAAAATTCAGTGTTAAAGGCTACAAGTTTACCTGTATAACAAACCTATACATGCACCCCTGAACCTAAAAGTTAAAACTAACAAAAAGACTATAGGATATTATGATTTTGGCTTATTATCTCAGAAAACAAAAGTTGCTGAGAATTCAGGTAATCCGAAGAGGATTATCTTACATACCTTGTGTCTGATATATGCAGCCAN
|
pathogenic
| 311,466 |
Does the variant impacting MKKS (MKKS centrosomal shuttling protein) on chromosome 20, position 10405648, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']
|
CCTTCTACTCACAGCATAAAATTATGGATAAGGCATAACCATAACCATCACCATAACATTCTGTCCACAAAGCTGGGAAATGGGAGACATAAAGGAGTCACTAAGTCTAGCCCATGCTCAAGGGGAGGAAATTATGCAAGGTCTGAAACTAGGAGGTGGGGCCACCTTAGAGGCTGCCTACCACACTGCCCTTCTATTTGATTGTAATAATAAAAGGAGTAAAACTTTTGATAAATATTTTATGAGACTTCAGGTGGGGCTGATACCTAACATATATGGATGGCATTGCTGCTTGTATTGCTAGTTTTTTCCTTTGGCTCAGAGTAAAAATTCTTTTTGATTACAAGAATATCAGAGGAAATTGTTTAACAATTCTATTTCTCTTTATCATGGCTATAGATCTGATCATTGACTATTAGGTTGGTTTGTTTCCCAAAAATTTCCAAAATATTTTCCTAAAGTTTAATACAACATTTGTTATAGCTCCATGCTTATTCATGTGGCTGCCTTCTATATTTCTTCTTCAATTTATCAATACATCTTATATTTGCATAAAATTCAAACTACATCCCTTGGTGAAACATAATGTCTCTACTTTGAACATGGGAGATTTTCTACTTTCTTTTTCATACTATTGACTAGAGAAATAACTTCCCCTTCCCTTTATGCTGCTTTCTGAAGTCCTGCTAGAATACTCCTTATTGTCCTTCCTTTTTCTATCAGTCTATGGTTCTCAACCAACAACAGTTTTGCTCTTCGGGGGACATTTGGCAATGTCTGGAAACATTTTTGGTTGTCACAACAGGAGGGTGCTACTGGCATCTAGTGTGCAGAGGCCAGGGATGCTGCTCAGTAAGCTGTAATGCACAGGGCAGCCTCCGTACAACAAAGAATTATGGGGCTCAGAATGTCAATAATGCCAAAGTTGAGAAACCCCAGTGTAAAACAAACCAGTCCTTCTTCCCACTTTAAAAATGAAGACATTACAATGTTGCTTTAGCCTTGGTTACTATATAAATCTACTTTTTCCCCCCAAAAGCAAACATTTCCCCAAAATAACAAAAATGTGGAGTTGTGATATAAACTACAAATTGCAGGCAAACCAGGTTCTACTCAATTACCTAACCACTGAAGAATATAGCTTGAGATAAAGGGCATGGAGAAAAGTGAAATTTTACTAAATGTGCAGTTTGAATACTTCTTTTGATTGAGCAATATATACTGAATGTTTTGTGACACTTTGAGATCTAGTTTTATACTTTAAGCATATGTAATTACTGCTAACTGGAAAATATCTAAAATATGTATATCCAAACTAGAGCATGGATTAGGAGTCTTTTTTATTTGTTTGCTCTCAAAATGATGCCAACATAACAAAAATTTAGAACAATGTACAGCAGCCAGTATAGAATCCCTAAGATAACTATAATATTTTTAAATAAATAATGCTTCATATTTTTATTGTTTCATGGCATTTCCATTCACGAATCACCTTTTTTCCTAAATAAGTGTATCTATAATTTTATGAGTCATTTGTCCAAATATGTAGAACAGGGCTTTGGGAGAAAACAAATACACTCACAATTTTTCTCAATTGCCAACAGACTAGTTTATTTGTTTCTCTTGTAATACGAACATGCTATTCTCTTAGTTTTTATCTTCAATAACATATGAAAGATCCAAAATCAAATTGGCTGTCTCTACAGCCACCTGTAGGCCACTAAGCTTTGCAGTCAAACAGTCCAAGGTCAGGTTGCTGGCTGAGCCCACAGCTTCATGTGGAAGGCAGCTTTGTGGCACAAATGGACGACGTGTGCTTCTTAAGAAAGACCAGTTGAGTTCTTCCTGGCTATTGTATAATCCACAGCCACACTGTGAAAGCAAATCTGGCCAGTTAGCAACACAGGGAGAATCTGCCTGAACTGACCAAAGGTGTCCATACTTCATGTCAGTGAGAATTTCACCTCCATCATGTTCTAAAGAGCCAACAACAGATTCTAGGGCACTGCAAAATGCTTCAGCAATTAATTGAAGTTCTGTTTGAGTACATTCATCATCTTTGAGAATGCTTTCTGGGTCGTTGTGAGTCTAAAGAGTAATAAAAACATTGAAAACACATACAAAGCAATTAATATAAAATGTTTCAGAAAAATAAGATACTGAAATCAAAATCTTATTCCTAAAGTAATTACTTACTTTCATTTAATTTGGGGTCTGGCACAATGCTAACGGGCTTGTATGGGTCAGCCGGCCGGGTTGCAAACCCTTAACTAGGTTGGTTATAGTAAAAATGTATTAAAAATGTATATACTACCAGTCATGTTACCAGAATGAGTGAATCAGAATAACCCCACCATCAGCTTATTCTGAATGAGGCTTGGTAGTGCCTCCTTAATACATGAAGGACTAGGCATAATACATGTATTACAGGTTTTTCTGCACACAGGAGGAAGTTCCTGAAGACTGATGTCCCAAATGGAGTACTTATTTATCTCTGCAAAATGTTTGAGATTTGCTTAAAATGGGAATGCACATATTTTTATTTGGAAATCATGATGTAAATTTTCATATCAATGTTTTAAAAATGAATATTCTTCTCTTTAAATTAATGAAAAGGTAATAAGACCTTAAACAGTCTTCTGGTTCCACTATTTAAAAATGTTTATCCTAGAAATTCCATGATAAAAAGAAAAATTAATATATAGCCATGCACCACATACCAACACTTCAGTCAATGATAGACTGCATATACAACAGTGGTCCCATAAGATTATAAGGCCATATTTTTACTAACCTTTTCTGTGTGTTGATATGTTTAGATACATAAATACCATTGTGTTACAATTACCTACAGTATTCAGTACAGTAATATGCTGTAAGGGTTTGTAGCCTAGGAGCAATAGGCTATACCACATAGCTTAGGAGTGTGGTAGGCTCTACCATGTAGGTTTGTGCAAGTACACTCTATATTGTTTGCACAACAATATTGTCTAATGATGCATTTCTCAGAATATATCTTTGTTAAGCAACATGTCTGTATTAGCAAACTAATAACTGAATGATGGGTTAAAAAATCCATATCTTAACTGCTTAAAAACAGTGACTACTTTCCTACTCAAGACACCTCCTTCCTCTAAAAAACTTTCTCTAGTTTATCAATTCCATTTCAGAATACATTATTGTCCATTCAGCACCAATAGATTGGCACAAATTTTGTTTTCCATAATGTATATTCTGATAACTTTTCATGAATGTGCTTTATCTTCAAAGAGATTCTAAGTTATTTGGGGAAGGACAGGGCATGTTTACCCAATGAATCGATTGCTAATATCTGGAAAACACCTATACCTTTTTCTATCCATTTTCAAATAAAGTAGGCCAGTACTTATGAAATAATCAGAACAACAATGCACTAAACTTATCTGAGAGCTGTCAGGAAATGGAGTTTCCTAGACCAATCAAAAAATTCTATTTAGTATAATTAATAAATAACATACATAAATACCAATTTTAAAATTATAATAGAATCTAATATGTGAATTGCTTAAATAAATGAAACTTTTCTTGATGCTCTAGAAGATACTGAAGTATTCTGTAGAAACTTGGCCCTTTTGTTTGTGAACATCAATTATTACTGTATTGCAGCAGTTGAGATCTCTAAGAGAACTCCCAATAACAGAATGCTAGCTTCAACATGCAGAACATGTAGACAATACTCAAAGAACGTGATCGCTTGCTTAAATATTTTTATAATAATCATTGTAATAAGGATATTACCTTATATTTACCTTGTTATTTCCCTCAAGTGTTTTTGATTATCTACTTTATTTAGACTACTGAAAAATTCAGTGTTAAAGGCTACAAGTTTACCTGTATAACAAACCTATACATGCACCCCTGAACCTAAAAGTTAAAACTAACAAAAAGACTATAGGATATTATGATTTTGGCTTATTATCTCAGAAAACAAAAGTTGCTGAGAATTCAGGTAATCCGAAGAGGATTATCTTACATACCTTGTGTCTGATATATGCAGCCAAATGAGTTTCAGTACAGCCACCTCCCAACAAAGCCCATGGTTCCTTGAGTGTTAACT
|
CCTTCTACTCACAGCATAAAATTATGGATAAGGCATAACCATAACCATCACCATAACATTCTGTCCACAAAGCTGGGAAATGGGAGACATAAAGGAGTCACTAAGTCTAGCCCATGCTCAAGGGGAGGAAATTATGCAAGGTCTGAAACTAGGAGGTGGGGCCACCTTAGAGGCTGCCTACCACACTGCCCTTCTATTTGATTGTAATAATAAAAGGAGTAAAACTTTTGATAAATATTTTATGAGACTTCAGGTGGGGCTGATACCTAACATATATGGATGGCATTGCTGCTTGTATTGCTAGTTTTTTCCTTTGGCTCAGAGTAAAAATTCTTTTTGATTACAAGAATATCAGAGGAAATTGTTTAACAATTCTATTTCTCTTTATCATGGCTATAGATCTGATCATTGACTATTAGGTTGGTTTGTTTCCCAAAAATTTCCAAAATATTTTCCTAAAGTTTAATACAACATTTGTTATAGCTCCATGCTTATTCATGTGGCTGCCTTCTATATTTCTTCTTCAATTTATCAATACATCTTATATTTGCATAAAATTCAAACTACATCCCTTGGTGAAACATAATGTCTCTACTTTGAACATGGGAGATTTTCTACTTTCTTTTTCATACTATTGACTAGAGAAATAACTTCCCCTTCCCTTTATGCTGCTTTCTGAAGTCCTGCTAGAATACTCCTTATTGTCCTTCCTTTTTCTATCAGTCTATGGTTCTCAACCAACAACAGTTTTGCTCTTCGGGGGACATTTGGCAATGTCTGGAAACATTTTTGGTTGTCACAACAGGAGGGTGCTACTGGCATCTAGTGTGCAGAGGCCAGGGATGCTGCTCAGTAAGCTGTAATGCACAGGGCAGCCTCCGTACAACAAAGAATTATGGGGCTCAGAATGTCAATAATGCCAAAGTTGAGAAACCCCAGTGTAAAACAAACCAGTCCTTCTTCCCACTTTAAAAATGAAGACATTACAATGTTGCTTTAGCCTTGGTTACTATATAAATCTACTTTTTCCCCCCAAAAGCAAACATTTCCCCAAAATAACAAAAATGTGGAGTTGTGATATAAACTACAAATTGCAGGCAAACCAGGTTCTACTCAATTACCTAACCACTGAAGAATATAGCTTGAGATAAAGGGCATGGAGAAAAGTGAAATTTTACTAAATGTGCAGTTTGAATACTTCTTTTGATTGAGCAATATATACTGAATGTTTTGTGACACTTTGAGATCTAGTTTTATACTTTAAGCATATGTAATTACTGCTAACTGGAAAATATCTAAAATATGTATATCCAAACTAGAGCATGGATTAGGAGTCTTTTTTATTTGTTTGCTCTCAAAATGATGCCAACATAACAAAAATTTAGAACAATGTACAGCAGCCAGTATAGAATCCCTAAGATAACTATAATATTTTTAAATAAATAATGCTTCATATTTTTATTGTTTCATGGCATTTCCATTCACGAATCACCTTTTTTCCTAAATAAGTGTATCTATAATTTTATGAGTCATTTGTCCAAATATGTAGAACAGGGCTTTGGGAGAAAACAAATACACTCACAATTTTTCTCAATTGCCAACAGACTAGTTTATTTGTTTCTCTTGTAATACGAACATGCTATTCTCTTAGTTTTTATCTTCAATAACATATGAAAGATCCAAAATCAAATTGGCTGTCTCTACAGCCACCTGTAGGCCACTAAGCTTTGCAGTCAAACAGTCCAAGGTCAGGTTGCTGGCTGAGCCCACAGCTTCATGTGGAAGGCAGCTTTGTGGCACAAATGGACGACGTGTGCTTCTTAAGAAAGACCAGTTGAGTTCTTCCTGGCTATTGTATAATCCACAGCCACACTGTGAAAGCAAATCTGGCCAGTTAGCAACACAGGGAGAATCTGCCTGAACTGACCAAAGGTGTCCATACTTCATGTCAGTGAGAATTTCACCTCCATCATGTTCTAAAGAGCCAACAACAGATTCTAGGGCACTGCAAAATGCTTCAGCAATTAATTGAAGTTCTGTTTGAGTACACATCATCTTTGAGAATGCTTTCTGGGTCGTTGTGAGTCTAAAGAGTAATAAAAACATTGAAAACACATACAAAGCAATTAATATAAAATGTTTCAGAAAAATAAGATACTGAAATCAAAATCTTATTCCTAAAGTAATTACTTACTTTCATTTAATTTGGGGTCTGGCACAATGCTAACGGGCTTGTATGGGTCAGCCGGCCGGGTTGCAAACCCTTAACTAGGTTGGTTATAGTAAAAATGTATTAAAAATGTATATACTACCAGTCATGTTACCAGAATGAGTGAATCAGAATAACCCCACCATCAGCTTATTCTGAATGAGGCTTGGTAGTGCCTCCTTAATACATGAAGGACTAGGCATAATACATGTATTACAGGTTTTTCTGCACACAGGAGGAAGTTCCTGAAGACTGATGTCCCAAATGGAGTACTTATTTATCTCTGCAAAATGTTTGAGATTTGCTTAAAATGGGAATGCACATATTTTTATTTGGAAATCATGATGTAAATTTTCATATCAATGTTTTAAAAATGAATATTCTTCTCTTTAAATTAATGAAAAGGTAATAAGACCTTAAACAGTCTTCTGGTTCCACTATTTAAAAATGTTTATCCTAGAAATTCCATGATAAAAAGAAAAATTAATATATAGCCATGCACCACATACCAACACTTCAGTCAATGATAGACTGCATATACAACAGTGGTCCCATAAGATTATAAGGCCATATTTTTACTAACCTTTTCTGTGTGTTGATATGTTTAGATACATAAATACCATTGTGTTACAATTACCTACAGTATTCAGTACAGTAATATGCTGTAAGGGTTTGTAGCCTAGGAGCAATAGGCTATACCACATAGCTTAGGAGTGTGGTAGGCTCTACCATGTAGGTTTGTGCAAGTACACTCTATATTGTTTGCACAACAATATTGTCTAATGATGCATTTCTCAGAATATATCTTTGTTAAGCAACATGTCTGTATTAGCAAACTAATAACTGAATGATGGGTTAAAAAATCCATATCTTAACTGCTTAAAAACAGTGACTACTTTCCTACTCAAGACACCTCCTTCCTCTAAAAAACTTTCTCTAGTTTATCAATTCCATTTCAGAATACATTATTGTCCATTCAGCACCAATAGATTGGCACAAATTTTGTTTTCCATAATGTATATTCTGATAACTTTTCATGAATGTGCTTTATCTTCAAAGAGATTCTAAGTTATTTGGGGAAGGACAGGGCATGTTTACCCAATGAATCGATTGCTAATATCTGGAAAACACCTATACCTTTTTCTATCCATTTTCAAATAAAGTAGGCCAGTACTTATGAAATAATCAGAACAACAATGCACTAAACTTATCTGAGAGCTGTCAGGAAATGGAGTTTCCTAGACCAATCAAAAAATTCTATTTAGTATAATTAATAAATAACATACATAAATACCAATTTTAAAATTATAATAGAATCTAATATGTGAATTGCTTAAATAAATGAAACTTTTCTTGATGCTCTAGAAGATACTGAAGTATTCTGTAGAAACTTGGCCCTTTTGTTTGTGAACATCAATTATTACTGTATTGCAGCAGTTGAGATCTCTAAGAGAACTCCCAATAACAGAATGCTAGCTTCAACATGCAGAACATGTAGACAATACTCAAAGAACGTGATCGCTTGCTTAAATATTTTTATAATAATCATTGTAATAAGGATATTACCTTATATTTACCTTGTTATTTCCCTCAAGTGTTTTTGATTATCTACTTTATTTAGACTACTGAAAAATTCAGTGTTAAAGGCTACAAGTTTACCTGTATAACAAACCTATACATGCACCCCTGAACCTAAAAGTTAAAACTAACAAAAAGACTATAGGATATTATGATTTTGGCTTATTATCTCAGAAAACAAAAGTTGCTGAGAATTCAGGTAATCCGAAGAGGATTATCTTACATACCTTGTGTCTGATATATGCAGCCAAATGAGTTTCAGTACAGCCACCTCCCAACAAAGCCCATGGTTCCTTGAGTGTTAACTNN
|
pathogenic
| 311,469 |
Is the genetic variant on chromosome 20, position 10407737, gene MKKS (MKKS centrosomal shuttling protein), benign or pathogenic? If pathogenic, what disease(s) is indicated?
|
benign
|
TAAAGAGTAATAAAAACATTGAAAACACATACAAAGCAATTAATATAAAATGTTTCAGAAAAATAAGATACTGAAATCAAAATCTTATTCCTAAAGTAATTACTTACTTTCATTTAATTTGGGGTCTGGCACAATGCTAACGGGCTTGTATGGGTCAGCCGGCCGGGTTGCAAACCCTTAACTAGGTTGGTTATAGTAAAAATGTATTAAAAATGTATATACTACCAGTCATGTTACCAGAATGAGTGAATCAGAATAACCCCACCATCAGCTTATTCTGAATGAGGCTTGGTAGTGCCTCCTTAATACATGAAGGACTAGGCATAATACATGTATTACAGGTTTTTCTGCACACAGGAGGAAGTTCCTGAAGACTGATGTCCCAAATGGAGTACTTATTTATCTCTGCAAAATGTTTGAGATTTGCTTAAAATGGGAATGCACATATTTTTATTTGGAAATCATGATGTAAATTTTCATATCAATGTTTTAAAAATGAATATTCTTCTCTTTAAATTAATGAAAAGGTAATAAGACCTTAAACAGTCTTCTGGTTCCACTATTTAAAAATGTTTATCCTAGAAATTCCATGATAAAAAGAAAAATTAATATATAGCCATGCACCACATACCAACACTTCAGTCAATGATAGACTGCATATACAACAGTGGTCCCATAAGATTATAAGGCCATATTTTTACTAACCTTTTCTGTGTGTTGATATGTTTAGATACATAAATACCATTGTGTTACAATTACCTACAGTATTCAGTACAGTAATATGCTGTAAGGGTTTGTAGCCTAGGAGCAATAGGCTATACCACATAGCTTAGGAGTGTGGTAGGCTCTACCATGTAGGTTTGTGCAAGTACACTCTATATTGTTTGCACAACAATATTGTCTAATGATGCATTTCTCAGAATATATCTTTGTTAAGCAACATGTCTGTATTAGCAAACTAATAACTGAATGATGGGTTAAAAAATCCATATCTTAACTGCTTAAAAACAGTGACTACTTTCCTACTCAAGACACCTCCTTCCTCTAAAAAACTTTCTCTAGTTTATCAATTCCATTTCAGAATACATTATTGTCCATTCAGCACCAATAGATTGGCACAAATTTTGTTTTCCATAATGTATATTCTGATAACTTTTCATGAATGTGCTTTATCTTCAAAGAGATTCTAAGTTATTTGGGGAAGGACAGGGCATGTTTACCCAATGAATCGATTGCTAATATCTGGAAAACACCTATACCTTTTTCTATCCATTTTCAAATAAAGTAGGCCAGTACTTATGAAATAATCAGAACAACAATGCACTAAACTTATCTGAGAGCTGTCAGGAAATGGAGTTTCCTAGACCAATCAAAAAATTCTATTTAGTATAATTAATAAATAACATACATAAATACCAATTTTAAAATTATAATAGAATCTAATATGTGAATTGCTTAAATAAATGAAACTTTTCTTGATGCTCTAGAAGATACTGAAGTATTCTGTAGAAACTTGGCCCTTTTGTTTGTGAACATCAATTATTACTGTATTGCAGCAGTTGAGATCTCTAAGAGAACTCCCAATAACAGAATGCTAGCTTCAACATGCAGAACATGTAGACAATACTCAAAGAACGTGATCGCTTGCTTAAATATTTTTATAATAATCATTGTAATAAGGATATTACCTTATATTTACCTTGTTATTTCCCTCAAGTGTTTTTGATTATCTACTTTATTTAGACTACTGAAAAATTCAGTGTTAAAGGCTACAAGTTTACCTGTATAACAAACCTATACATGCACCCCTGAACCTAAAAGTTAAAACTAACAAAAAGACTATAGGATATTATGATTTTGGCTTATTATCTCAGAAAACAAAAGTTGCTGAGAATTCAGGTAATCCGAAGAGGATTATCTTACATACCTTGTGTCTGATATATGCAGCCAAATGAGTTTCAGTACAGCCACCTCCCAACAAAGCCCATGGTTCCTTGAGTGTTAACTGCAGGACATGCAGTGCCGTCTGACACGTGAGCTAAGAAAAAACCCAAATCATCAGAATCAGACGTTCACATCATATTAACACACAAAAAATCATGCTCTCAAAGCATCATAGTGAATACAGAGAGTGTGATTTTAATTACAAAAGAACAAAACTTGTGTGGTGCCAAGGTTGTCATGTGATTAATACATTCTGAATAGTAAGGTTTAGAGATTAAGGGAAGATACTTCAGTCAGAAGTTTGTTTTCACGGAGCCAGATTAGTATTTTCTTTCATATACACTTAGCTCTTCAAACTGAGACGAATATATGGCCTCAAAATATCTGGGTCAACAAGGTTTGCTGACACTTCCACTAAAAAAATCATTTCAGTCTAAATAATAAATTTATTTTGAATGGATTTGGAAATAATACAGTTACATCCCAGCAATAATAAATAAAAAATCACACAGACCTTTAACATTTACTAAGGATATATCCTTGAGCATACATGAATCTTTAAAACTTGTGACCAATCCCATAGATTATCATTTCCCTTGTATAAAAGTTGCATGTATTATTGCTGGCAGAGAACAGGAAACTCTGCTAAGAAGTGGATGATGGGTATTGACTGGGGAACTCATTTTTCCAAGTGAATTATTCATACACATTACCATCAAAGACTACACAATTCAAGCTAATTTCTTAGAAAAGTTCGCATGTCAAGGGCCTTTTAGGTTTCTAGTAAATAGTAGAAATAATAAATGGCAACACATGCCAAATTTATTATAATGCCACAGGCATTTAAATTAGCTTACTTGTGACTTTGCATCAATCATTTTAATTTTTGCTTTCTATACTACCTAGGGAAGCTACGAAAAAAAAATCATAATAACTATTGAGTGACTAATTCCTCCCTCAGCCTCTGCATATGGAATTCAAAGTTCATTACCTACCTTCAGCTCATCCCAGGCAGTGTCATTTCTGTTGCAGAGAAGCAAGCTGCAGATTGTTGCTTCATTAGGAATAAGATGAAAAAAATGTTTGGAGCCAAATTTTGCAGTGCACACATCTTTCACACTTCCATAACTATTAGGACATATTGAGCCTAGGGATCCAATAGGCTGTGTTCCTATTTTTTAAAGATTAGAAAATACAAGTTGTATAAGCAAAAGTGGAGCAAACAACCATTTAAAAGTATATTTATTCCTAGCCAACATAAAAGCCCCACAAGCATATAATTTAAAATATGAAATACAGGATAAATAAGATGAATATTCCTAAACTGCTAAGTTATATTCTGCTATTAAAATGATATACAAATAAAGTAAAGTAGAAGTTATTTTTGTTTACAGATCTCTTTGAAAATCTTTTAGAAGTCATTTTGTACTGTCTTCCCAGAAAAGGGCACATACAATTTTGCATACATTTTCAAGGAATTCAGAAAACCCTCAAAGCCCATTCAGGGTTTAGAGACCCCAAATTAAGAACTTCACTAATTTGGATTACGGGTGATGTGACAGGCTATTTTTTTTTAAAGGCATTATTATTTTCAATTTAAAATAAATGCTGCTATCCAAATAGTTGTGTAGTTGAATTCCTTCGGGACGCTACATAGTGAATATGTAAGAATTATTTTTTTGTCTGGCAACTATTTATAAAATAGCTAACTGAATTATGCCAAAATAAAGTGACATGCTTATTTCACTGCTATTATTTGATATATTAAGTATTTTGTCCTCCTACCTGCACATGTAAAATAGTGAAGTTTTATAAACCACAAGTAAAAATATGAATAAAGAAGTTAGCGTGACTTGAATTTTCCAAATCTCCAAACGTAATGGAAGTTATGTAAGAAAAGAAACCTACATCAAACTCCTACAAGAAACAATACTAAAGTCTAAAGCTATAATTCTGAGCCATTCACCCCTTTCAGCTAGTTTCCTTTTCTTTCAGACTCACCTTTAAAAGATGGTTTCTTTCAAACTAATGGGGTTTAGTTTGAAAGTCTAAAATGTCGGCCGGGTGTAGTGGCTCATGCCTGTAATCCCAGCATTTTAGGAGGCTGAGGCGGGCATTGCCTAAGGTCAGGAGTTCGAGACCAGCCTGGCCA
|
TAAAGAGTAATAAAAACATTGAAAACACATACAAAGCAATTAATATAAAATGTTTCAGAAAAATAAGATACTGAAATCAAAATCTTATTCCTAAAGTAATTACTTACTTTCATTTAATTTGGGGTCTGGCACAATGCTAACGGGCTTGTATGGGTCAGCCGGCCGGGTTGCAAACCCTTAACTAGGTTGGTTATAGTAAAAATGTATTAAAAATGTATATACTACCAGTCATGTTACCAGAATGAGTGAATCAGAATAACCCCACCATCAGCTTATTCTGAATGAGGCTTGGTAGTGCCTCCTTAATACATGAAGGACTAGGCATAATACATGTATTACAGGTTTTTCTGCACACAGGAGGAAGTTCCTGAAGACTGATGTCCCAAATGGAGTACTTATTTATCTCTGCAAAATGTTTGAGATTTGCTTAAAATGGGAATGCACATATTTTTATTTGGAAATCATGATGTAAATTTTCATATCAATGTTTTAAAAATGAATATTCTTCTCTTTAAATTAATGAAAAGGTAATAAGACCTTAAACAGTCTTCTGGTTCCACTATTTAAAAATGTTTATCCTAGAAATTCCATGATAAAAAGAAAAATTAATATATAGCCATGCACCACATACCAACACTTCAGTCAATGATAGACTGCATATACAACAGTGGTCCCATAAGATTATAAGGCCATATTTTTACTAACCTTTTCTGTGTGTTGATATGTTTAGATACATAAATACCATTGTGTTACAATTACCTACAGTATTCAGTACAGTAATATGCTGTAAGGGTTTGTAGCCTAGGAGCAATAGGCTATACCACATAGCTTAGGAGTGTGGTAGGCTCTACCATGTAGGTTTGTGCAAGTACACTCTATATTGTTTGCACAACAATATTGTCTAATGATGCATTTCTCAGAATATATCTTTGTTAAGCAACATGTCTGTATTAGCAAACTAATAACTGAATGATGGGTTAAAAAATCCATATCTTAACTGCTTAAAAACAGTGACTACTTTCCTACTCAAGACACCTCCTTCCTCTAAAAAACTTTCTCTAGTTTATCAATTCCATTTCAGAATACATTATTGTCCATTCAGCACCAATAGATTGGCACAAATTTTGTTTTCCATAATGTATATTCTGATAACTTTTCATGAATGTGCTTTATCTTCAAAGAGATTCTAAGTTATTTGGGGAAGGACAGGGCATGTTTACCCAATGAATCGATTGCTAATATCTGGAAAACACCTATACCTTTTTCTATCCATTTTCAAATAAAGTAGGCCAGTACTTATGAAATAATCAGAACAACAATGCACTAAACTTATCTGAGAGCTGTCAGGAAATGGAGTTTCCTAGACCAATCAAAAAATTCTATTTAGTATAATTAATAAATAACATACATAAATACCAATTTTAAAATTATAATAGAATCTAATATGTGAATTGCTTAAATAAATGAAACTTTTCTTGATGCTCTAGAAGATACTGAAGTATTCTGTAGAAACTTGGCCCTTTTGTTTGTGAACATCAATTATTACTGTATTGCAGCAGTTGAGATCTCTAAGAGAACTCCCAATAACAGAATGCTAGCTTCAACATGCAGAACATGTAGACAATACTCAAAGAACGTGATCGCTTGCTTAAATATTTTTATAATAATCATTGTAATAAGGATATTACCTTATATTTACCTTGTTATTTCCCTCAAGTGTTTTTGATTATCTACTTTATTTAGACTACTGAAAAATTCAGTGTTAAAGGCTACAAGTTTACCTGTATAACAAACCTATACATGCACCCCTGAACCTAAAAGTTAAAACTAACAAAAAGACTATAGGATATTATGATTTTGGCTTATTATCTCAGAAAACAAAAGTTGCTGAGAATTCAGGTAATCCGAAGAGGATTATCTTACATACCTTGTGTCTGATATATGCAGCCAAATGAGTTTCAGTACAGCCACCTCCCAACAAAGCCCATGGTTCCTTGAGTGTTAACTGCAGGACATGCAGTGCCGTCTGACACGTGAGCTAAGAAAAAACCAAATCATCAGAATCAGACGTTCACATCATATTAACACACAAAAAATCATGCTCTCAAAGCATCATAGTGAATACAGAGAGTGTGATTTTAATTACAAAAGAACAAAACTTGTGTGGTGCCAAGGTTGTCATGTGATTAATACATTCTGAATAGTAAGGTTTAGAGATTAAGGGAAGATACTTCAGTCAGAAGTTTGTTTTCACGGAGCCAGATTAGTATTTTCTTTCATATACACTTAGCTCTTCAAACTGAGACGAATATATGGCCTCAAAATATCTGGGTCAACAAGGTTTGCTGACACTTCCACTAAAAAAATCATTTCAGTCTAAATAATAAATTTATTTTGAATGGATTTGGAAATAATACAGTTACATCCCAGCAATAATAAATAAAAAATCACACAGACCTTTAACATTTACTAAGGATATATCCTTGAGCATACATGAATCTTTAAAACTTGTGACCAATCCCATAGATTATCATTTCCCTTGTATAAAAGTTGCATGTATTATTGCTGGCAGAGAACAGGAAACTCTGCTAAGAAGTGGATGATGGGTATTGACTGGGGAACTCATTTTTCCAAGTGAATTATTCATACACATTACCATCAAAGACTACACAATTCAAGCTAATTTCTTAGAAAAGTTCGCATGTCAAGGGCCTTTTAGGTTTCTAGTAAATAGTAGAAATAATAAATGGCAACACATGCCAAATTTATTATAATGCCACAGGCATTTAAATTAGCTTACTTGTGACTTTGCATCAATCATTTTAATTTTTGCTTTCTATACTACCTAGGGAAGCTACGAAAAAAAAATCATAATAACTATTGAGTGACTAATTCCTCCCTCAGCCTCTGCATATGGAATTCAAAGTTCATTACCTACCTTCAGCTCATCCCAGGCAGTGTCATTTCTGTTGCAGAGAAGCAAGCTGCAGATTGTTGCTTCATTAGGAATAAGATGAAAAAAATGTTTGGAGCCAAATTTTGCAGTGCACACATCTTTCACACTTCCATAACTATTAGGACATATTGAGCCTAGGGATCCAATAGGCTGTGTTCCTATTTTTTAAAGATTAGAAAATACAAGTTGTATAAGCAAAAGTGGAGCAAACAACCATTTAAAAGTATATTTATTCCTAGCCAACATAAAAGCCCCACAAGCATATAATTTAAAATATGAAATACAGGATAAATAAGATGAATATTCCTAAACTGCTAAGTTATATTCTGCTATTAAAATGATATACAAATAAAGTAAAGTAGAAGTTATTTTTGTTTACAGATCTCTTTGAAAATCTTTTAGAAGTCATTTTGTACTGTCTTCCCAGAAAAGGGCACATACAATTTTGCATACATTTTCAAGGAATTCAGAAAACCCTCAAAGCCCATTCAGGGTTTAGAGACCCCAAATTAAGAACTTCACTAATTTGGATTACGGGTGATGTGACAGGCTATTTTTTTTTAAAGGCATTATTATTTTCAATTTAAAATAAATGCTGCTATCCAAATAGTTGTGTAGTTGAATTCCTTCGGGACGCTACATAGTGAATATGTAAGAATTATTTTTTTGTCTGGCAACTATTTATAAAATAGCTAACTGAATTATGCCAAAATAAAGTGACATGCTTATTTCACTGCTATTATTTGATATATTAAGTATTTTGTCCTCCTACCTGCACATGTAAAATAGTGAAGTTTTATAAACCACAAGTAAAAATATGAATAAAGAAGTTAGCGTGACTTGAATTTTCCAAATCTCCAAACGTAATGGAAGTTATGTAAGAAAAGAAACCTACATCAAACTCCTACAAGAAACAATACTAAAGTCTAAAGCTATAATTCTGAGCCATTCACCCCTTTCAGCTAGTTTCCTTTTCTTTCAGACTCACCTTTAAAAGATGGTTTCTTTCAAACTAATGGGGTTTAGTTTGAAAGTCTAAAATGTCGGCCGGGTGTAGTGGCTCATGCCTGTAATCCCAGCATTTTAGGAGGCTGAGGCGGGCATTGCCTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAN
|
benign
| 311,471 |
The genetic variant at chromosome 20, position 10412548, affecting gene MKKS (MKKS centrosomal shuttling protein): benign or pathogenic? Disease name(s) if pathogenic?
|
pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']
|
GTGTGCCTGTAGTTCCAGCTACTAGGGAGGCTGAGACAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATA
|
GTGTGCCTGTAGTTCCAGCTACTAGGGAGGCTGAGACAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATAN
|
pathogenic
| 311,480 |
Considering the variant on chromosome 20, location 10412554, involving gene MKKS (MKKS centrosomal shuttling protein), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']
|
CTGTAGTTCCAGCTACTAGGGAGGCTGAGACAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTA
|
CTGTAGTTCCAGCTACTAGGGAGGCTGAGACAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTANNNNNNNNNNN
|
pathogenic
| 311,481 |
Considering the variant on chromosome 20, location 10412555, involving gene MKKS (MKKS centrosomal shuttling protein), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
|
pathogenic; ['Bardet-Biedl_syndrome', 'McKusick-Kaufman_syndrome', 'Multicystic_kidney_dysplasia', 'Polycystic_kidney_disease']
|
TGTAGTTCCAGCTACTAGGGAGGCTGAGACAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTAT
|
TGTAGTTCCAGCTACTAGGGAGGCTGAGACAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATNN
|
pathogenic
| 311,482 |
A genetic variant on chromosome 20, position 10412569, affects the gene MKKS (MKKS centrosomal shuttling protein). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']
|
CTAGGGAGGCTGAGACAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAG
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CTAGGGAGGCTGAGACAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGNNNN
|
pathogenic
| 311,483 |
Gene mutation in MKKS (MKKS centrosomal shuttling protein) at chromosome 20, position 10412573—is it benign or pathogenic? If pathogenic, specify the disease(s).
|
pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']
|
GGAGGCTGAGACAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTT
|
GGAGGCTGAGACAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTNN
|
pathogenic
| 311,484 |
Clinical impact (benign or pathogenic) of the variant at chromosome 20, location 10412629, gene MKKS (MKKS centrosomal shuttling protein): what disease(s) if pathogenic?
|
pathogenic; ['Bardet-Biedl_syndrome', 'McKusick-Kaufman_syndrome']
|
TTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAG
|
TTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACA
|
pathogenic
| 311,485 |
Assess the variant on chromosome 20, position 10412647, impacting MKKS (MKKS centrosomal shuttling protein): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
|
pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']
|
GCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAG
|
GCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGAATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAA
|
pathogenic
| 311,486 |
Variant on chromosome 20, at position 10412669, affecting MKKS (MKKS centrosomal shuttling protein): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
|
pathogenic; ['Bardet-Biedl_syndrome_6', 'Inborn_genetic_diseases']
|
CCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAA
|
CCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATA
|
pathogenic
| 311,487 |
A genetic variant on chromosome 20, position 10412677, affects the gene MKKS (MKKS centrosomal shuttling protein). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
|
pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'MKKS-related_disorder', 'McKusick-Kaufman_syndrome', 'Retinal_dystrophy']
|
AAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGA
|
AAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGAN
|
pathogenic
| 311,488 |
Evaluate the clinical significance of the mutation at chromosome 20, position 10412739 in gene MKKS (MKKS centrosomal shuttling protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
|
pathogenic; ['Bardet-Biedl_syndrome_6', 'Retinal_dystrophy']
|
ACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAAT
|
ACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATN
|
pathogenic
| 311,491 |
Located at chromosome 20 position 10412998, the variant affecting gene MKKS (MKKS centrosomal shuttling protein)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
|
pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']
|
ACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCA
|
ACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCANN
|
pathogenic
| 311,494 |
Variant in gene MKKS (MKKS centrosomal shuttling protein), located at chromosome 20 position 10413079: benign or pathogenic? What disease(s) does it cause if pathogenic?
|
pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']
|
GGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAA
|
GGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAANNNN
|
pathogenic
| 311,495 |
A genetic alteration at chromosome 20, position 10413081, in gene MKKS (MKKS centrosomal shuttling protein)—benign or pathogenic? If pathogenic, which disease(s) is involved?
|
pathogenic; ['Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']
|
CTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATT
|
CTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTAAATCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATTNNNN
|
pathogenic
| 311,496 |
Is the chromosome 20, position 10413082 variant in MKKS (MKKS centrosomal shuttling protein) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
|
pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']
|
TGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATTC
|
TGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATT
|
pathogenic
| 311,497 |
Variant chromosome 20, position 10413134, gene MKKS (MKKS centrosomal shuttling protein): benign or pathogenic? Disease(s)?
|
pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'MKKS-related_disorder', 'McKusick-Kaufman_syndrome']
|
AAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATTCCTGACACATTAATAATAATGTGTGAAAAGAATAAAAACGTTAGATCATAGAT
|
AAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATTCCTGACACATTAATAATAATGTGTGAAAAGAATAAAAACGTTAGATCATAGATN
|
pathogenic
| 311,500 |
Regarding the variant found on chromosome 20 at position 10413166 in gene MKKS (MKKS centrosomal shuttling protein): is it benign or pathogenic? If pathogenic, identify the disease(s).
|
pathogenic; ['Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']
|
CTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATTCCTGACACATTAATAATAATGTGTGAAAAGAATAAAAACGTTAGATCATAGATCTTATCTGTTGAGGCCGGGTGTTTTAAAGGTA
|
CTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATTCCTGACACATTAATAATAATGTGTGAAAAGAATAAAAACGTTAGATCATAGATCTTATCTGTTGAGGCCGGGTGTTTTAAAGGTAN
|
pathogenic
| 311,501 |
Gene MKKS (MKKS centrosomal shuttling protein) variant at chromosome position 10413233 on chromosome 20: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
|
pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']
|
ACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATTCCTGACACATTAATAATAATGTGTGAAAAGAATAAAAACGTTAGATCATAGATCTTATCTGTTGAGGCCGGGTGTTTTAAAGGTATATTATTCGTTAGTATTTCCAGGAATATGCTGAGTATGGTAGTGTCCAGGAGAGCATTTAGCATAAA
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ACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATTCCTGACACATTAATAATAATGTGTGAAAAGAATAAAAACGTTAGATCATAGATCTTATCTGTTGAGGCCGGGTGTTTTAAAGGTATATTATTCGTTAGTATTTCCAGGAATATGCTGAGTATGGTAGTGTCCAGGAGAGCATTTAGCATAAAN
|
pathogenic
| 311,502 |
Chromosome 20, position 10413262, gene MKKS (MKKS centrosomal shuttling protein): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
|
pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'Inborn_genetic_diseases', 'McKusick-Kaufman_syndrome']
|
CTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATTCCTGACACATTAATAATAATGTGTGAAAAGAATAAAAACGTTAGATCATAGATCTTATCTGTTGAGGCCGGGTGTTTTAAAGGTATATTATTCGTTAGTATTTCCAGGAATATGCTGAGTATGGTAGTGTCCAGGAGAGCATTTAGCATAAATGAAACAAATCTATTTAGCCTAAAGTACT
|
CTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATTCCTGACACATTAATAATAATGTGTGAAAAGAATAAAAACGTTAGATCATAGATCTTATCTGTTGAGGCCGGGTGTTTTAAAGGTATATTATTCGTTAGTATTTCCAGGAATATGCTGAGTATGGTAGTGTCCAGGAGAGCATTTAGCATAAATGAAACAAATCTATTTAGCCTAAAGTACTNN
|
pathogenic
| 311,504 |
Subsets and Splits
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