Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17527070_17527115delinsAGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCT | CA1955186903 | USH1C | c.497-75_497-30delinsAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT (n.497-75_497-30delinsAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT) c.530-75_530-30delinsAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT (n.530-75_530-30delinsAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT) c.404-75_404-30delinsAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT (n.404-75_404-30delinsAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT) n.606-75_606-30delinsAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | |
11 | g.17527070_17527160delinsAGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCT | CA1955186902 | USH1C | c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT (n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT) c.529+63_530-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT (n.529+63_530-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT) c.403+63_404-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT (n.403+63_404-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT) n.605+63_606-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | |
11 | g.17527111_17527112insCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTG | CA935547045 | USH1C | c.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-31_530-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-31_530-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-31_404-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-31_404-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-31_606-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527111_17527112insCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTG | CA2612675235 | USH1C | c.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-31_530-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-31_530-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-31_404-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-31_404-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-31_606-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | gnomAD v4 |
11 | g.17527123_17527124insACCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCC | CA2612675238 | USH1C | c.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-31_530-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-31_530-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-31_404-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-31_404-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-31_606-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | gnomAD v4 |
11 | g.17527142_17527143insATCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACC | CA935547058 | USH1C | c.497-31_497-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-31_497-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-31_530-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-31_530-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-31_404-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-31_404-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-31_606-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | gnomAD v3 gnomAD v4 |
11 | g.17527156_17527157insACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTG | CA918828287 | USH1C | c.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-31_606-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | dbSNP |
11 | g.17527112_17527156dup | CA597668782 | USH1C | c.497-75_497-31dup (n.497-75_497-31dup) c.530-75_530-31dup (n.530-75_530-31dup) c.404-75_404-31dup (n.404-75_404-31dup) n.606-75_606-31dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527112_17527156del | CA473302313 | USH1C | c.497-75_497-31del (n.497-75_497-31del) c.530-75_530-31del (n.530-75_530-31del) c.404-75_404-31del (n.404-75_404-31del) n.606-75_606-31del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527112_17527201del | CA935547049 | USH1C | c.496+63_497-31del (n.496+63_497-31del) c.529+63_530-31del (n.529+63_530-31del) c.403+63_404-31del (n.403+63_404-31del) n.605+63_606-31del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527075_17527118delinsCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCT | CA1955186907 | USH1C | c.497-78_497-35delinsAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG (n.497-78_497-35delinsAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG) c.530-78_530-35delinsAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG (n.530-78_530-35delinsAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG) c.404-78_404-35delinsAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG (n.404-78_404-35delinsAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG) n.606-78_606-35delinsAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG | |
11 | g.17527079_17527121del | CA918828296 | USH1C | c.497-78_497-36del (n.497-78_497-36del) c.530-78_530-36del (n.530-78_530-36del) c.404-78_404-36del (n.404-78_404-36del) n.606-78_606-36del | dbSNP |
11 | g.17527080_17527115del | CA2612675332 | USH1C | c.497-75_497-40del (n.497-75_497-40del) c.530-75_530-40del (n.530-75_530-40del) c.404-75_404-40del (n.404-75_404-40del) n.606-75_606-40del | gnomAD v4 |
11 | g.17527123_17527124insACCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCC | CA2612675338 | USH1C | c.497-40_497-39insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.497-40_497-39insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) c.530-40_530-39insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.530-40_530-39insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) c.404-40_404-39insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.404-40_404-39insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) n.606-40_606-39insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGG | gnomAD v4 |
11 | g.17527083_17527107del | CA2790593473 | USH1C | c.497-67_497-43del (n.497-67_497-43del) c.530-67_530-43del (n.530-67_530-43del) c.404-67_404-43del (n.404-67_404-43del) n.606-67_606-43del | |
11 | g.17527083_17527118del | CA2612675345 | USH1C | c.497-78_497-43del (n.497-78_497-43del) c.530-78_530-43del (n.530-78_530-43del) c.404-78_404-43del (n.404-78_404-43del) n.606-78_606-43del | gnomAD v4 |
11 | g.17527095_17527135del | CA2612675349 | USH1C | c.497-84_497-44del (n.497-84_497-44del) c.530-84_530-44del (n.530-84_530-44del) c.404-84_404-44del (n.404-84_404-44del) n.606-84_606-44del | gnomAD v4 |
11 | g.17527085_17527104del | CA2790593481 | USH1C | c.497-64_497-45del (n.497-64_497-45del) c.530-64_530-45del (n.530-64_530-45del) c.404-64_404-45del (n.404-64_404-45del) n.606-64_606-45del | |
11 | g.17527086_17527104del | CA2790593483 | USH1C | c.497-64_497-46del (n.497-64_497-46del) c.530-64_530-46del (n.530-64_530-46del) c.404-64_404-46del (n.404-64_404-46del) n.606-64_606-46del | |
11 | g.17527087_17527104del | CA2790593489 | USH1C | c.497-64_497-47del (n.497-64_497-47del) c.530-64_530-47del (n.530-64_530-47del) c.404-64_404-47del (n.404-64_404-47del) n.606-64_606-47del | |
11 | g.17527087_17527118del | CA2612675366 | USH1C | c.497-78_497-47del (n.497-78_497-47del) c.530-78_530-47del (n.530-78_530-47del) c.404-78_404-47del (n.404-78_404-47del) n.606-78_606-47del | dbSNP gnomAD v4 |
11 | g.17527111_17527112insCCCTGCTCCCCCGCCCTCCCCCCCTCCCACCGTCATGGAGTACTG | CA2832280583 | USH1C | c.497-48_497-47insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.497-48_497-47insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) c.530-48_530-47insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.530-48_530-47insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) c.404-48_404-47insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.404-48_404-47insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) n.606-48_606-47insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG | |
11 | g.17527089_17527104del | CA2790593501 | USH1C | c.497-64_497-49del (n.497-64_497-49del) c.530-64_530-49del (n.530-64_530-49del) c.404-64_404-49del (n.404-64_404-49del) n.606-64_606-49del | |
11 | g.17527091_17527104del | CA2790593507 | USH1C | c.497-64_497-51del (n.497-64_497-51del) c.530-64_530-51del (n.530-64_530-51del) c.404-64_404-51del (n.404-64_404-51del) n.606-64_606-51del | |
11 | g.17527091_17527118del | CA2612675390 | USH1C | c.497-78_497-51del (n.497-78_497-51del) c.530-78_530-51del (n.530-78_530-51del) c.404-78_404-51del (n.404-78_404-51del) n.606-78_606-51del | gnomAD v4 |
11 | g.17527092_17527104del | CA2790593510 | USH1C | c.497-64_497-52del (n.497-64_497-52del) c.530-64_530-52del (n.530-64_530-52del) c.404-64_404-52del (n.404-64_404-52del) n.606-64_606-52del | |
11 | g.17527093_17527104del | CA2790593511 | USH1C | c.497-64_497-53del (n.497-64_497-53del) c.530-64_530-53del (n.530-64_530-53del) c.404-64_404-53del (n.404-64_404-53del) n.606-64_606-53del | |
11 | g.17527094_17527104del | CA2790593518 | USH1C | c.497-64_497-54del (n.497-64_497-54del) c.530-64_530-54del (n.530-64_530-54del) c.404-64_404-54del (n.404-64_404-54del) n.606-64_606-54del | |
11 | g.17527094_17527118delinsCACCGTCATGGAGTACTGACCTGCT | CA1955186929 | USH1C | c.497-78_497-54delinsAGCAGGTCAGTACTCCATGACGGTG (n.497-78_497-54delinsAGCAGGTCAGTACTCCATGACGGTG) c.530-78_530-54delinsAGCAGGTCAGTACTCCATGACGGTG (n.530-78_530-54delinsAGCAGGTCAGTACTCCATGACGGTG) c.404-78_404-54delinsAGCAGGTCAGTACTCCATGACGGTG (n.404-78_404-54delinsAGCAGGTCAGTACTCCATGACGGTG) n.606-78_606-54delinsAGCAGGTCAGTACTCCATGACGGTG | |
11 | g.17527095_17527118del | CA597668818 | USH1C | c.497-78_497-55del (n.497-78_497-55del) c.530-78_530-55del (n.530-78_530-55del) c.404-78_404-55del (n.404-78_404-55del) n.606-78_606-55del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527096_17527104del | CA2790593537 | USH1C | c.497-64_497-56del (n.497-64_497-56del) c.530-64_530-56del (n.530-64_530-56del) c.404-64_404-56del (n.404-64_404-56del) n.606-64_606-56del | |
11 | g.17527097_17527118delinsCGTCATGGAGTACTGACCTGCT | CA1955186932 | USH1C | c.497-78_497-57delinsAGCAGGTCAGTACTCCATGACG (n.497-78_497-57delinsAGCAGGTCAGTACTCCATGACG) c.530-78_530-57delinsAGCAGGTCAGTACTCCATGACG (n.530-78_530-57delinsAGCAGGTCAGTACTCCATGACG) c.404-78_404-57delinsAGCAGGTCAGTACTCCATGACG (n.404-78_404-57delinsAGCAGGTCAGTACTCCATGACG) n.606-78_606-57delinsAGCAGGTCAGTACTCCATGACG | |
11 | g.17527098_17527104del | CA2790593664 | USH1C | c.497-64_497-58del (n.497-64_497-58del) c.530-64_530-58del (n.530-64_530-58del) c.404-64_404-58del (n.404-64_404-58del) n.606-64_606-58del | |
11 | g.17527098_17527112del | CA597668823 | USH1C | c.497-72_497-58del (n.497-72_497-58del) c.530-72_530-58del (n.530-72_530-58del) c.404-72_404-58del (n.404-72_404-58del) n.606-72_606-58del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527098_17527118del | CA597668827 | USH1C | c.497-78_497-58del (n.497-78_497-58del) c.530-78_530-58del (n.530-78_530-58del) c.404-78_404-58del (n.404-78_404-58del) n.606-78_606-58del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527099_17527118del | CA2612676464 | USH1C | c.497-78_497-59del (n.497-78_497-59del) c.530-78_530-59del (n.530-78_530-59del) c.404-78_404-59del (n.404-78_404-59del) n.606-78_606-59del | gnomAD v4 |
11 | g.17527100_17527104del | CA2790593889 | USH1C | c.497-64_497-60del (n.497-64_497-60del) c.530-64_530-60del (n.530-64_530-60del) c.404-64_404-60del (n.404-64_404-60del) n.606-64_606-60del | |
11 | g.17527103_17527107del | CA2790593901 | USH1C | c.497-66_497-62del (n.497-66_497-62del) c.530-66_530-62del (n.530-66_530-62del) c.404-66_404-62del (n.404-66_404-62del) n.606-66_606-62del | |
11 | g.17527103_17527144del | CA2612676525 | USH1C | c.496+80_497-62del (n.496+80_497-62del) c.529+80_530-62del (n.529+80_530-62del) c.403+80_404-62del (n.403+80_404-62del) n.605+80_606-62del | dbSNP gnomAD v4 |
11 | g.17527104del | CA2790593907 | USH1C | c.497-63del (n.497-63del) c.530-63del (n.530-63del) c.404-63del (n.404-63del) n.606-63del | |
11 | g.17527104_17527106del | CA2574769492 | USH1C | c.497-65_497-63del (n.497-65_497-63del) c.530-65_530-63del (n.530-65_530-63del) c.404-65_404-63del (n.404-65_404-63del) n.606-65_606-63del | |
11 | g.17527104G>A | CA2612676532 | USH1C | c.497-64C>T (n.497-64C>T) c.530-64C>T (n.530-64C>T) c.404-64C>T (n.404-64C>T) n.606-64C>T | gnomAD v4 |
11 | g.17527104G>C | CA674239486 | USH1C | c.497-64C>G (n.497-64C>G) c.530-64C>G (n.530-64C>G) c.404-64C>G (n.404-64C>G) n.606-64C>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527104G= | CA1955186940 | USH1C | c.497-64C= (n.497-64C=) c.530-64C= (n.530-64C=) c.404-64C= (n.404-64C=) n.606-64C= | |
11 | g.17527104_17527107del | CA2790593912 | USH1C | c.497-67_497-64del (n.497-67_497-64del) c.530-67_530-64del (n.530-67_530-64del) c.404-67_404-64del (n.404-67_404-64del) n.606-67_606-64del | |
11 | g.17527105A>C | CA2790593920 | USH1C | c.497-65T>G (n.497-65T>G) c.530-65T>G (n.530-65T>G) c.404-65T>G (n.404-65T>G) n.606-65T>G | |
11 | g.17527105A>G | CA2530817438 | USH1C | c.497-65T>C (n.497-65T>C) c.530-65T>C (n.530-65T>C) c.404-65T>C (n.404-65T>C) n.606-65T>C | gnomAD v4 |
11 | g.17527105_17527106insCAC | CA2790593923 | USH1C | c.497-66_497-65insGTG (n.497-66_497-65insGTG) c.530-66_530-65insGTG (n.530-66_530-65insGTG) c.404-66_404-65insGTG (n.404-66_404-65insGTG) n.606-66_606-65insGTG | |
11 | g.17527106G>A | CA2612676535 | USH1C | c.497-66C>T (n.497-66C>T) c.530-66C>T (n.530-66C>T) c.404-66C>T (n.404-66C>T) n.606-66C>T | gnomAD v4 |
11 | g.17527106G>C | CA2612676536 | USH1C | c.497-66C>G (n.497-66C>G) c.530-66C>G (n.530-66C>G) c.404-66C>G (n.404-66C>G) n.606-66C>G | gnomAD v4 |
11 | g.17527106_17527107del | CA2790593924 | USH1C | c.497-67_497-66del (n.497-67_497-66del) c.530-67_530-66del (n.530-67_530-66del) c.404-67_404-66del (n.404-67_404-66del) n.606-67_606-66del | |
11 | g.17527106_17527107insAC | CA2790593936 | USH1C | c.497-67_497-66insGT (n.497-67_497-66insGT) c.530-67_530-66insGT (n.530-67_530-66insGT) c.404-67_404-66insGT (n.404-67_404-66insGT) n.606-67_606-66insGT | |
11 | g.17527106_17527107insACAT | CA2790593929 | USH1C | c.497-67_497-66insATGT (n.497-67_497-66insATGT) c.530-67_530-66insATGT (n.530-67_530-66insATGT) c.404-67_404-66insATGT (n.404-67_404-66insATGT) n.606-67_606-66insATGT | |
11 | g.17527107del | CA2790593935 | USH1C | c.497-67del (n.497-67del) c.530-67del (n.530-67del) c.404-67del (n.404-67del) n.606-67del | |
11 | g.17527107T>A | CA2790593931 | USH1C | c.497-67A>T (n.497-67A>T) c.530-67A>T (n.530-67A>T) c.404-67A>T (n.404-67A>T) n.606-67A>T | |
11 | g.17527107T>G | CA935547299 | USH1C | c.497-67A>C (n.497-67A>C) c.530-67A>C (n.530-67A>C) c.404-67A>C (n.404-67A>C) n.606-67A>C | gnomAD v3 gnomAD v4 |
11 | g.17527108_17527110del | CA2790593933 | USH1C | c.497-69_497-67del (n.497-69_497-67del) c.530-69_530-67del (n.530-69_530-67del) c.404-69_404-67del (n.404-69_404-67del) n.606-69_606-67del | |
11 | g.17527108A>G | CA2574769495 | USH1C | c.497-68T>C (n.497-68T>C) c.530-68T>C (n.530-68T>C) c.404-68T>C (n.404-68T>C) n.606-68T>C | |
11 | g.17527108A>T | CA935547300 | USH1C | c.497-68T>A (n.497-68T>A) c.530-68T>A (n.530-68T>A) c.404-68T>A (n.404-68T>A) n.606-68T>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527109del | CA2790593939 | USH1C | c.497-69del (n.497-69del) c.530-69del (n.530-69del) c.404-69del (n.404-69del) n.606-69del | |
11 | g.17527109C>T | CA2612676539 | USH1C | c.497-69G>A (n.497-69G>A) c.530-69G>A (n.530-69G>A) c.404-69G>A (n.404-69G>A) n.606-69G>A | gnomAD v4 |
11 | g.17527109_17527111del | CA2790593940 | USH1C | c.497-71_497-69del (n.497-71_497-69del) c.530-71_530-69del (n.530-71_530-69del) c.404-71_404-69del (n.404-71_404-69del) n.606-71_606-69del | |
11 | g.17527109_17527142del | CA2790593941 | USH1C | c.496+81_497-69del (n.496+81_497-69del) c.529+81_530-69del (n.529+81_530-69del) c.403+81_404-69del (n.403+81_404-69del) n.605+81_606-69del | |
11 | g.17527109_17527110insAT | CA2790593942 | USH1C | c.497-70_497-69insAT (n.497-70_497-69insAT) c.530-70_530-69insAT (n.530-70_530-69insAT) c.404-70_404-69insAT (n.404-70_404-69insAT) n.606-70_606-69insAT | |
11 | g.17527110T>A | CA2790593944 | USH1C | c.497-70A>T (n.497-70A>T) c.530-70A>T (n.530-70A>T) c.404-70A>T (n.404-70A>T) n.606-70A>T | |
11 | g.17527110T>C | CA2574769496 | USH1C | c.497-70A>G (n.497-70A>G) c.530-70A>G (n.530-70A>G) c.404-70A>G (n.404-70A>G) n.606-70A>G | |
11 | g.17527110T>G | CA2533895557 | USH1C | c.497-70A>C (n.497-70A>C) c.530-70A>C (n.530-70A>C) c.404-70A>C (n.404-70A>C) n.606-70A>C | |
11 | g.17527110_17527111del | CA2790593943 | USH1C | c.497-71_497-70del (n.497-71_497-70del) c.530-71_530-70del (n.530-71_530-70del) c.404-71_404-70del (n.404-71_404-70del) n.606-71_606-70del | |
11 | g.17527110_17527111insA | CA2790593957 | USH1C | c.497-71_497-70insT (n.497-71_497-70insT) c.530-71_530-70insT (n.530-71_530-70insT) c.404-71_404-70insT (n.404-71_404-70insT) n.606-71_606-70insT | |
11 | g.17527110_17527111insACA | CA2790593955 | USH1C | c.497-71_497-70insTGT (n.497-71_497-70insTGT) c.530-71_530-70insTGT (n.530-71_530-70insTGT) c.404-71_404-70insTGT (n.404-71_404-70insTGT) n.606-71_606-70insTGT | |
11 | g.17527110_17527111insAGG | CA2790593950 | USH1C | c.497-71_497-70insCCT (n.497-71_497-70insCCT) c.530-71_530-70insCCT (n.530-71_530-70insCCT) c.404-71_404-70insCCT (n.404-71_404-70insCCT) n.606-71_606-70insCCT | |
11 | g.17527111del | CA2790593959 | USH1C | c.497-71del (n.497-71del) c.530-71del (n.530-71del) c.404-71del (n.404-71del) n.606-71del | |
11 | g.17527111G>A | CA2538467653 | USH1C | c.497-71C>T (n.497-71C>T) c.530-71C>T (n.530-71C>T) c.404-71C>T (n.404-71C>T) n.606-71C>T | |
11 | g.17527111G>C | CA674239493 | USH1C | c.497-71C>G (n.497-71C>G) c.530-71C>G (n.530-71C>G) c.404-71C>G (n.404-71C>G) n.606-71C>G | dbSNP gnomAD v4 |
11 | g.17527111G= | CA1955186941 | USH1C | c.497-71C= (n.497-71C=) c.530-71C= (n.530-71C=) c.404-71C= (n.404-71C=) n.606-71C= | |
11 | g.17527111G>T | CA2790593952 | USH1C | c.497-71C>A (n.497-71C>A) c.530-71C>A (n.530-71C>A) c.404-71C>A (n.404-71C>A) n.606-71C>A | |
11 | g.17527111_17527112delinsGA | CA1955186942 | USH1C | c.497-72_497-71delinsTC (n.497-72_497-71delinsTC) c.530-72_530-71delinsTC (n.530-72_530-71delinsTC) c.404-72_404-71delinsTC (n.404-72_404-71delinsTC) n.606-72_606-71delinsTC | |
11 | g.17527111_17527138del | CA2592429713 | USH1C | c.496+85_497-71del (n.496+85_497-71del) c.529+85_530-71del (n.529+85_530-71del) c.403+85_404-71del (n.403+85_404-71del) n.605+85_606-71del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527111_17527151del | CA2612676545 | USH1C | c.496+72_497-71del (n.496+72_497-71del) c.529+72_530-71del (n.529+72_530-71del) c.403+72_404-71del (n.403+72_404-71del) n.605+72_606-71del | gnomAD v4 |
11 | g.17527111_17527112insT | CA2790593967 | USH1C | c.497-72_497-71insA (n.497-72_497-71insA) c.530-72_530-71insA (n.530-72_530-71insA) c.404-72_404-71insA (n.404-72_404-71insA) n.606-72_606-71insA | |
11 | g.17527111_17527112insCCCTGCTCCCCCGCCCTCCCTCCC | CA2612676562 | USH1C | c.497-72_497-71insGGGAGGGAGGGCGGGGGAGCAGGG (n.497-72_497-71insGGGAGGGAGGGCGGGGGAGCAGGG) c.530-72_530-71insGGGAGGGAGGGCGGGGGAGCAGGG (n.530-72_530-71insGGGAGGGAGGGCGGGGGAGCAGGG) c.404-72_404-71insGGGAGGGAGGGCGGGGGAGCAGGG (n.404-72_404-71insGGGAGGGAGGGCGGGGGAGCAGGG) n.606-72_606-71insGGGAGGGAGGGCGGGGGAGCAGGG | gnomAD v4 |
11 | g.17527111_17527112insCCCTGCCCCCCCGCCCTCCCTCCCTCCC | CA2612676570 | USH1C | c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGGGCAGGG (n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGGGCAGGG) c.530-72_530-71insGGGAGGGAGGGAGGGCGGGGGGGCAGGG (n.530-72_530-71insGGGAGGGAGGGAGGGCGGGGGGGCAGGG) c.404-72_404-71insGGGAGGGAGGGAGGGCGGGGGGGCAGGG (n.404-72_404-71insGGGAGGGAGGGAGGGCGGGGGGGCAGGG) n.606-72_606-71insGGGAGGGAGGGAGGGCGGGGGGGCAGGG | gnomAD v4 |
11 | g.17527111_17527112insCCCTGCTCCCCCGCCCTCCCTCCCTCCC | CA935547305 | USH1C | c.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG (n.497-72_497-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG) c.530-72_530-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG (n.530-72_530-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG) c.404-72_404-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG (n.404-72_404-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG) n.606-72_606-71insGGGAGGGAGGGAGGGCGGGGGAGCAGGG | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527112del | CA935547318 | USH1C | c.497-72del (n.497-72del) c.530-72del (n.530-72del) c.404-72del (n.404-72del) n.606-72del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527112A= | CA1955186944 | USH1C | c.497-72T= (n.497-72T=) c.530-72T= (n.530-72T=) c.404-72T= (n.404-72T=) n.606-72T= | |
11 | g.17527112A>C | CA218461492 | USH1C | c.497-72T>G (n.497-72T>G) c.530-72T>G (n.530-72T>G) c.404-72T>G (n.404-72T>G) n.606-72T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527112A>G | CA1955186945 | USH1C | c.497-72T>C (n.497-72T>C) c.530-72T>C (n.530-72T>C) c.404-72T>C (n.404-72T>C) n.606-72T>C | dbSNP gnomAD v4 |
11 | g.17527112A>T | CA2790593971 | USH1C | c.497-72T>A (n.497-72T>A) c.530-72T>A (n.530-72T>A) c.404-72T>A (n.404-72T>A) n.606-72T>A | |
11 | g.17527112_17527157delinsACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGC | CA1955186943 | USH1C | c.496+66_497-72delinsGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGT (n.496+66_497-72delinsGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGT) c.529+66_530-72delinsGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGT (n.529+66_530-72delinsGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGT) c.403+66_404-72delinsGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGT (n.403+66_404-72delinsGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGT) n.605+66_606-72delinsGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGT | |
11 | g.17527113C>A | CA2612676728 | USH1C | c.497-73G>T (n.497-73G>T) c.530-73G>T (n.530-73G>T) c.404-73G>T (n.404-73G>T) n.606-73G>T | gnomAD v4 |
11 | g.17527113C>T | CA2612676738 | USH1C | c.497-73G>A (n.497-73G>A) c.530-73G>A (n.530-73G>A) c.404-73G>A (n.404-73G>A) n.606-73G>A | gnomAD v4 |
11 | g.17527114_17527115insATCATGGAGTACTGCCC | CA2612676758 | USH1C | c.497-73_497-72insGCAGTACTCCATGATGG (n.497-73_497-72insGCAGTACTCCATGATGG) c.530-73_530-72insGCAGTACTCCATGATGG (n.530-73_530-72insGCAGTACTCCATGATGG) c.404-73_404-72insGCAGTACTCCATGATGG (n.404-73_404-72insGCAGTACTCCATGATGG) n.606-73_606-72insGCAGTACTCCATGATGG | gnomAD v4 |
11 | g.17527114_17527115insGTCATGGAGTACTGCCC | CA935547346 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGG (n.497-73_497-72insGCAGTACTCCATGACGG) c.530-73_530-72insGCAGTACTCCATGACGG (n.530-73_530-72insGCAGTACTCCATGACGG) c.404-73_404-72insGCAGTACTCCATGACGG (n.404-73_404-72insGCAGTACTCCATGACGG) n.606-73_606-72insGCAGTACTCCATGACGG | gnomAD v3 gnomAD v4 |
11 | g.17527114_17527115insCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC | CA2612676759 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG | gnomAD v4 |
11 | g.17527114_17527115insAGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC | CA2612676753 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCTGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCTGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCTGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCTGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCTGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCTGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCTGG | gnomAD v4 |
11 | g.17527114_17527115insGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCAGGGAGTACTGCCC | CA2612676763 | USH1C | c.497-73_497-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG (n.497-73_497-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG) c.530-73_530-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG (n.530-73_530-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG) c.404-73_404-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG (n.404-73_404-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG) n.606-73_606-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG | gnomAD v4 |
11 | g.17527114_17527115insCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCTGCCCTCCCCCCCCCCTCCCCCACCGTCATGGAGTACTGCC | CA1139580649 | USH1C | c.497-73_497-72insCAGTACTCCATGACGGTGGGGGAGGGGGGGGGGAGGGCAGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGG (n.497-73_497-72insCAGTACTCCATGACGGTGGGGGAGGGGGGGGGGAGGGCAGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGG) c.530-73_530-72insCAGTACTCCATGACGGTGGGGGAGGGGGGGGGGAGGGCAGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGG (n.530-73_530-72insCAGTACTCCATGACGGTGGGGGAGGGGGGGGGGAGGGCAGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGG) c.404-73_404-72insCAGTACTCCATGACGGTGGGGGAGGGGGGGGGGAGGGCAGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGG (n.404-73_404-72insCAGTACTCCATGACGGTGGGGGAGGGGGGGGGGAGGGCAGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGG) n.606-73_606-72insCAGTACTCCATGACGGTGGGGGAGGGGGGGGGGAGGGCAGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGG | |
11 | g.17527114del | CA2612676725 | USH1C | c.497-73del (n.497-73del) c.530-73del (n.530-73del) c.404-73del (n.404-73del) n.606-73del | gnomAD v4 |
11 | g.17527113_17527115del | CA2790594005 | USH1C | c.497-75_497-73del (n.497-75_497-73del) c.530-75_530-73del (n.530-75_530-73del) c.404-75_404-73del (n.404-75_404-73del) n.606-75_606-73del | |
11 | g.17527117_17527118insCCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGC | CA2521559069 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGG | gnomAD v4 |
11 | g.17527114_17527117del | CA2790594008 | USH1C | c.497-76_497-73del (n.497-76_497-73del) c.530-76_530-73del (n.530-76_530-73del) c.404-76_404-73del (n.404-76_404-73del) n.606-76_606-73del | |
11 | g.17527121_17527122insGCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCC | CA935547339 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGCGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGCGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGCGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGCGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGCGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGCGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGCGGGAGCAGG | gnomAD v3 gnomAD v4 |
11 | g.17527122_17527123insGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCC | CA2612676720 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAGCAGG | gnomAD v4 |
11 | g.17527122_17527123insAGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCC | CA935547344 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCTGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCTGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCTGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCTGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCTGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCTGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCTGGGGAGCAGG | gnomAD v3 gnomAD v4 |
11 | g.17527122_17527123insTGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCC | CA935547340 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGG | gnomAD v3 gnomAD v4 |
11 | g.17527123_17527124insCCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCC | CA2612676770 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGGGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGGGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGGGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGGGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGGGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGGGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGGGGGGGAGCAGG | gnomAD v4 |
11 | g.17527123_17527124insACCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCC | CA2612676766 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGG | gnomAD v4 |
11 | g.17527126_17527127insATCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCC | CA935547343 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGATGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGATGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGATGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGATGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGATGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGATGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGATGGCGGGGGAGCAGG | gnomAD v3 gnomAD v4 |
11 | g.17527131_17527132insCCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCC | CA2612676778 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527135_17527136insACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCC | CA2612676788 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527135_17527136insGCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCC | CA935547342 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v3 gnomAD v4 |
11 | g.17527137_17527138insACACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTC | CA2612676794 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGTGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGTGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGTGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGTGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGTGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGTGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGTGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527139_17527140insCCCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCC | CA2612676716 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527142_17527143insATCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACC | CA2592429714 | USH1C | c.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v3 gnomAD v4 |
11 | g.17527145_17527146insCTGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTC | CA1955186946 | USH1C | c.497-73_497-72insGCAGTACTCCAGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCAGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCAGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCAGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCAGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCAGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCAGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | dbSNP gnomAD v4 |
11 | g.17527146_17527147insGGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCA | CA2612676797 | USH1C | c.497-73_497-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527151_17527152insGACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAG | CA2570603140 | USH1C | c.497-73_497-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527152_17527153insCCTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGT | CA2612676700 | USH1C | c.497-73_497-72insGCAGGACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGGACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGGACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGGACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGGACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGGACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGGACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527152_17527153insGCTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGT | CA2612676659 | USH1C | c.497-73_497-72insGCAGCACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGCACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGCACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGCACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGCACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGCACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGCACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527152_17527153insTCTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGT | CA2612676702 | USH1C | c.497-73_497-72insGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527152_17527153insTCTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGT | CA2612676709 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527153_17527154insATGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTA | CA2612676801 | USH1C | c.497-73_497-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527156_17527157insGCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTG | CA2612676697 | USH1C | c.497-73_497-72insCCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insCCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insCCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insCCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insCCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insCCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insCCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527156_17527157insACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTG | CA2612676826 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527161_17527162insTTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTG | CA2831670214 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | |
11 | g.17527162_17527163insCCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGC | CA2612676834 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527167_17527168insTGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCC | CA2612676693 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527176_17527177insGCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCC | CA2790594021 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | |
11 | g.17527176_17527177insCCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCC | CA2612676831 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527178_17527179insTCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTC | CA2612676690 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527180_17527181insACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCC | CA2612676821 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527180_17527181insGCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCC | CA2531416449 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527183_17527184insTACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCC | CA2612676689 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTAGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTAGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTAGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTAGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTAGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTAGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTAGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527187_17527188insATCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACC | CA935547348 | USH1C | c.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v3 gnomAD v4 |
11 | g.17527187_17527188insATCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACC | CA2612676820 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527190_17527191insGTGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTC | CA2612676688 | USH1C | c.497-73_497-72insGCAGTACTCCACGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCACGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCACGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCACGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCACGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCACGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCACGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527190_17527191insGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCATCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTC | CA918828305 | USH1C | c.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | dbSNP |
11 | g.17527192_17527193insTGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCAT | CA2612676686 | USH1C | c.497-73_497-72insGCAGTACTCAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527196_17527197insGACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAG | CA2612676819 | USH1C | c.497-73_497-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527198_17527199insATGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTA | CA2612676816 | USH1C | c.497-73_497-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527198_17527199insTTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTA | CA2612676682 | USH1C | c.497-73_497-72insGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527198_17527199insTTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTA | CA2612676683 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527199_17527200insGGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTAC | CA2612676814 | USH1C | c.497-73_497-72insGCCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527207_17527208insCCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGC | CA2612676747 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527208_17527209insTCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCT | CA2612676680 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACTGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612676670 | USH1C | c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612676666 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCATCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612676752 | USH1C | c.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCTTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612676674 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAAGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAAGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAAGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAAGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAAGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAAGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAAGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA915947974 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | ClinVar dbSNP |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA918828304 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | dbSNP |
11 | g.17527165_17527209dup | CA935547341 | USH1C | c.496+66_497-73dup (n.496+66_497-73dup) c.529+66_530-73dup (n.529+66_530-73dup) c.403+66_404-73dup (n.403+66_404-73dup) n.605+66_606-73dup | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527120_17527209dup | CA2612676808 | USH1C | c.496+21_497-73dup (n.496+21_497-73dup) c.529+21_530-73dup (n.529+21_530-73dup) c.403+21_404-73dup (n.403+21_404-73dup) n.605+21_606-73dup | gnomAD v4 |
11 | g.17527165_17527209del | CA218461503 | USH1C | c.496+66_497-73del (n.496+66_497-73del) c.529+66_530-73del (n.529+66_530-73del) c.403+66_404-73del (n.403+66_404-73del) n.605+66_606-73del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527120_17527209del | CA935547338 | USH1C | c.496+21_497-73del (n.496+21_497-73del) c.529+21_530-73del (n.529+21_530-73del) c.403+21_404-73del (n.403+21_404-73del) n.605+21_606-73del | gnomAD v3 gnomAD v4 |
11 | g.17527113_17527114insA | CA2790594065 | USH1C | c.497-74_497-73insT (n.497-74_497-73insT) c.530-74_530-73insT (n.530-74_530-73insT) c.404-74_404-73insT (n.404-74_404-73insT) n.606-74_606-73insT | |
11 | g.17527113_17527114insAA | CA2790594062 | USH1C | c.497-74_497-73insTT (n.497-74_497-73insTT) c.530-74_530-73insTT (n.530-74_530-73insTT) c.404-74_404-73insTT (n.404-74_404-73insTT) n.606-74_606-73insTT | |
11 | g.17527113_17527114insAGA | CA2790594064 | USH1C | c.497-74_497-73insTCT (n.497-74_497-73insTCT) c.530-74_530-73insTCT (n.530-74_530-73insTCT) c.404-74_404-73insTCT (n.404-74_404-73insTCT) n.606-74_606-73insTCT | |
11 | g.17527114C>A | CA2790594058 | USH1C | c.497-74G>T (n.497-74G>T) c.530-74G>T (n.530-74G>T) c.404-74G>T (n.404-74G>T) n.606-74G>T | |
11 | g.17527114C= | CA1955186947 | USH1C | c.497-74G= (n.497-74G=) c.530-74G= (n.530-74G=) c.404-74G= (n.404-74G=) n.606-74G= | |
11 | g.17527114C>T | CA674239513 | USH1C | c.497-74G>A (n.497-74G>A) c.530-74G>A (n.530-74G>A) c.404-74G>A (n.404-74G>A) n.606-74G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527114_17527115insAG | CA2790594082 | USH1C | c.497-75_497-74insCT (n.497-75_497-74insCT) c.530-75_530-74insCT (n.530-75_530-74insCT) c.404-75_404-74insCT (n.404-75_404-74insCT) n.606-75_606-74insCT | |
11 | g.17527114_17527115insACT | CA2790594073 | USH1C | c.497-75_497-74insAGT (n.497-75_497-74insAGT) c.530-75_530-74insAGT (n.530-75_530-74insAGT) c.404-75_404-74insAGT (n.404-75_404-74insAGT) n.606-75_606-74insAGT | |
11 | g.17527115del | CA2790594075 | USH1C | c.497-75del (n.497-75del) c.530-75del (n.530-75del) c.404-75del (n.404-75del) n.606-75del | |
11 | g.17527115T>A | CA2574769499 | USH1C | c.497-75A>T (n.497-75A>T) c.530-75A>T (n.530-75A>T) c.404-75A>T (n.404-75A>T) n.606-75A>T | gnomAD v4 |
11 | g.17527115T>G | CA2790594080 | USH1C | c.497-75A>C (n.497-75A>C) c.530-75A>C (n.530-75A>C) c.404-75A>C (n.404-75A>C) n.606-75A>C | |
11 | g.17527115_17527118del | CA597668829 | USH1C | c.497-78_497-75del (n.497-78_497-75del) c.530-78_530-75del (n.530-78_530-75del) c.404-78_404-75del (n.404-78_404-75del) n.606-78_606-75del | gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527115_17527152del | CA2790594077 | USH1C | c.496+71_497-75del (n.496+71_497-75del) c.529+71_530-75del (n.529+71_530-75del) c.403+71_404-75del (n.403+71_404-75del) n.605+71_606-75del | |
11 | g.17527115_17527159delinsTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC | CA1955186948 | USH1C | c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA (n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA) c.529+64_530-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA (n.529+64_530-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA) c.403+64_404-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA (n.403+64_404-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA) n.605+64_606-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA | |
11 | g.17527115_17527116insA | CA2790594099 | USH1C | c.497-76_497-75insT (n.497-76_497-75insT) c.530-76_530-75insT (n.530-76_530-75insT) c.404-76_404-75insT (n.404-76_404-75insT) n.606-76_606-75insT | |
11 | g.17527115_17527116insACA | CA2790594091 | USH1C | c.497-76_497-75insTGT (n.497-76_497-75insTGT) c.530-76_530-75insTGT (n.530-76_530-75insTGT) c.404-76_404-75insTGT (n.404-76_404-75insTGT) n.606-76_606-75insTGT | |
11 | g.17527115_17527116insAGTA | CA2790594098 | USH1C | c.497-76_497-75insTACT (n.497-76_497-75insTACT) c.530-76_530-75insTACT (n.530-76_530-75insTACT) c.404-76_404-75insTACT (n.404-76_404-75insTACT) n.606-76_606-75insTACT | |
11 | g.17527116G>A | CA2790594092 | USH1C | c.497-76C>T (n.497-76C>T) c.530-76C>T (n.530-76C>T) c.404-76C>T (n.404-76C>T) n.606-76C>T | |
11 | g.17527116G>C | CA2612676857 | USH1C | c.497-76C>G (n.497-76C>G) c.530-76C>G (n.530-76C>G) c.404-76C>G (n.404-76C>G) n.606-76C>G | gnomAD v4 |
11 | g.17527116G= | CA1955186950 | USH1C | c.497-76C= (n.497-76C=) c.530-76C= (n.530-76C=) c.404-76C= (n.404-76C=) n.606-76C= | |
11 | g.17527116G>T | CA1955186949 | USH1C | c.497-76C>A (n.497-76C>A) c.530-76C>A (n.530-76C>A) c.404-76C>A (n.404-76C>A) n.606-76C>A | dbSNP |
11 | g.17527116_17527117del | CA935547355 | USH1C | c.497-77_497-76del (n.497-77_497-76del) c.530-77_530-76del (n.530-77_530-76del) c.404-77_404-76del (n.404-77_404-76del) n.606-77_606-76del | gnomAD v3 gnomAD v4 |
11 | g.17527116_17527159del | CA935547354 | USH1C | c.496+64_497-76del (n.496+64_497-76del) c.529+64_530-76del (n.529+64_530-76del) c.403+64_404-76del (n.403+64_404-76del) n.605+64_606-76del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527159_17527160insAGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC | CA2612676850 | USH1C | c.497-76_497-75insTGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-76_497-75insTGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-76_530-75insTGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-76_530-75insTGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-76_404-75insTGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-76_404-75insTGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-76_606-75insTGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | gnomAD v4 |
11 | g.17527159_17527160insCGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC | CA2790594096 | USH1C | c.497-76_497-75insGGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-76_497-75insGGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-76_530-75insGGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-76_530-75insGGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-76_404-75insGGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-76_404-75insGGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-76_606-75insGGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | |
11 | g.17527204_17527205insGGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC | CA2612676854 | USH1C | c.497-76_497-75insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-76_497-75insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-76_530-75insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-76_530-75insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-76_404-75insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-76_404-75insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-76_606-75insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | gnomAD v4 |
11 | g.17527116_17527117insACA | CA2790594117 | USH1C | c.497-77_497-76insTGT (n.497-77_497-76insTGT) c.530-77_530-76insTGT (n.530-77_530-76insTGT) c.404-77_404-76insTGT (n.404-77_404-76insTGT) n.606-77_606-76insTGT | |
11 | g.17527116_17527117insAGA | CA2790594116 | USH1C | c.497-77_497-76insTCT (n.497-77_497-76insTCT) c.530-77_530-76insTCT (n.530-77_530-76insTCT) c.404-77_404-76insTCT (n.404-77_404-76insTCT) n.606-77_606-76insTCT | |
11 | g.17527116_17527117insAGT | CA2790594115 | USH1C | c.497-77_497-76insACT (n.497-77_497-76insACT) c.530-77_530-76insACT (n.530-77_530-76insACT) c.404-77_404-76insACT (n.404-77_404-76insACT) n.606-77_606-76insACT | |
11 | g.17527116_17527117insAGTT | CA2790594113 | USH1C | c.497-77_497-76insAACT (n.497-77_497-76insAACT) c.530-77_530-76insAACT (n.530-77_530-76insAACT) c.404-77_404-76insAACT (n.404-77_404-76insAACT) n.606-77_606-76insAACT | |
11 | g.17527117C>A | CA2612676864 | USH1C | c.497-77G>T (n.497-77G>T) c.530-77G>T (n.530-77G>T) c.404-77G>T (n.404-77G>T) n.606-77G>T | gnomAD v4 |
11 | g.17527117C>G | CA2790594111 | USH1C | c.497-77G>C (n.497-77G>C) c.530-77G>C (n.530-77G>C) c.404-77G>C (n.404-77G>C) n.606-77G>C | |
11 | g.17527117C>T | CA2790594108 | USH1C | c.497-77G>A (n.497-77G>A) c.530-77G>A (n.530-77G>A) c.404-77G>A (n.404-77G>A) n.606-77G>A | |
11 | g.17527117_17527118delinsCT | CA1955186951 | USH1C | c.497-78_497-77delinsAG (n.497-78_497-77delinsAG) c.530-78_530-77delinsAG (n.530-78_530-77delinsAG) c.404-78_404-77delinsAG (n.404-78_404-77delinsAG) n.606-78_606-77delinsAG | |
11 | g.17527117_17527123del | CA2612676868 | USH1C | c.497-83_497-77del (n.497-83_497-77del) c.530-83_530-77del (n.530-83_530-77del) c.404-83_404-77del (n.404-83_404-77del) n.606-83_606-77del | gnomAD v4 |
11 | g.17527118_17527123del | CA2723302790 | USH1C | c.497-82_497-77del (n.497-82_497-77del) c.530-82_530-77del (n.530-82_530-77del) c.404-82_404-77del (n.404-82_404-77del) n.606-82_606-77del | dbSNP |
11 | g.17527118_17527158del | CA2790594112 | USH1C | c.496+66_497-77del (n.496+66_497-77del) c.529+66_530-77del (n.529+66_530-77del) c.403+66_404-77del (n.403+66_404-77del) n.605+66_606-77del | |
11 | g.17527160_17527161insCCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCT | CA2612676862 | USH1C | c.497-77_497-76insGAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG (n.497-77_497-76insGAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG) c.530-77_530-76insGAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG (n.530-77_530-76insGAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG) c.404-77_404-76insGAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG (n.404-77_404-76insGAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG) n.606-77_606-76insGAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG | gnomAD v4 |
11 | g.17527118del | CA935547357 | USH1C | c.497-78del (n.497-78del) c.530-78del (n.530-78del) c.404-78del (n.404-78del) n.606-78del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527118T>A | CA2790594126 | USH1C | c.497-78A>T (n.497-78A>T) c.530-78A>T (n.530-78A>T) c.404-78A>T (n.404-78A>T) n.606-78A>T | |
11 | g.17527118T>C | CA597668831 | USH1C | c.497-78A>G (n.497-78A>G) c.530-78A>G (n.530-78A>G) c.404-78A>G (n.404-78A>G) n.606-78A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527118T>G | CA2790594127 | USH1C | c.497-78A>C (n.497-78A>C) c.530-78A>C (n.530-78A>C) c.404-78A>C (n.404-78A>C) n.606-78A>C | |
11 | g.17527118T= | CA1955186952 | USH1C | c.497-78A= (n.497-78A=) c.530-78A= (n.530-78A=) c.404-78A= (n.404-78A=) n.606-78A= | |
11 | g.17527118_17527161delinsTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTG | CA1955186953 | USH1C | c.496+62_497-78delinsCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.496+62_497-78delinsCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) c.529+62_530-78delinsCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.529+62_530-78delinsCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) c.403+62_404-78delinsCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.403+62_404-78delinsCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) n.605+62_606-78delinsCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA | |
11 | g.17527161_17527162insTTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTG | CA2612676871 | USH1C | c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) c.530-78_530-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.530-78_530-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) c.404-78_404-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.404-78_404-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) n.606-78_606-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA | gnomAD v4 |
11 | g.17527119C>A | CA2612676879 | USH1C | c.497-79G>T (n.497-79G>T) c.530-79G>T (n.530-79G>T) c.404-79G>T (n.404-79G>T) n.606-79G>T | gnomAD v4 |
11 | g.17527120_17527121insACCGTCATGGAGTACTGCCCTGCTCCCCGCCCTCCCTCCCTCCC | CA918828306 | USH1C | c.497-79_497-78insGAGGGAGGGAGGGCGGGGAGCAGGGCAGTACTCCATGACGGTGG (n.497-79_497-78insGAGGGAGGGAGGGCGGGGAGCAGGGCAGTACTCCATGACGGTGG) c.530-79_530-78insGAGGGAGGGAGGGCGGGGAGCAGGGCAGTACTCCATGACGGTGG (n.530-79_530-78insGAGGGAGGGAGGGCGGGGAGCAGGGCAGTACTCCATGACGGTGG) c.404-79_404-78insGAGGGAGGGAGGGCGGGGAGCAGGGCAGTACTCCATGACGGTGG (n.404-79_404-78insGAGGGAGGGAGGGCGGGGAGCAGGGCAGTACTCCATGACGGTGG) n.606-79_606-78insGAGGGAGGGAGGGCGGGGAGCAGGGCAGTACTCCATGACGGTGG | dbSNP |
11 | g.17527123dup | CA1955186954 | USH1C | c.497-79dup (n.497-79dup) c.530-79dup (n.530-79dup) c.404-79dup (n.404-79dup) n.606-79dup | dbSNP |
11 | g.17527123del | CA2574769505 | USH1C | c.497-79del (n.497-79del) c.530-79del (n.530-79del) c.404-79del (n.404-79del) n.606-79del | |
11 | g.17527122_17527123del | CA912971872 | USH1C | c.497-80_497-79del (n.497-80_497-79del) c.530-80_530-79del (n.530-80_530-79del) c.404-80_404-79del (n.404-80_404-79del) n.606-80_606-79del | |
11 | g.17527121_17527123del | CA2612676889 | USH1C | c.497-81_497-79del (n.497-81_497-79del) c.530-81_530-79del (n.530-81_530-79del) c.404-81_404-79del (n.404-81_404-79del) n.606-81_606-79del | gnomAD v4 |
11 | g.17527119_17527127del | CA935547363 | USH1C | c.497-87_497-79del (n.497-87_497-79del) c.530-87_530-79del (n.530-87_530-79del) c.404-87_404-79del (n.404-87_404-79del) n.606-87_606-79del | gnomAD v3 gnomAD v4 |
11 | g.17527121_17527127del | CA2612676883 | USH1C | c.497-85_497-79del (n.497-85_497-79del) c.530-85_530-79del (n.530-85_530-79del) c.404-85_404-79del (n.404-85_404-79del) n.606-85_606-79del | gnomAD v4 |
11 | g.17527120_17527127del | CA2592429715 | USH1C | c.497-86_497-79del (n.497-86_497-79del) c.530-86_530-79del (n.530-86_530-79del) c.404-86_404-79del (n.404-86_404-79del) n.606-86_606-79del | gnomAD v3 gnomAD v4 |
11 | g.17527162_17527163insCCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGC | CA935547362 | USH1C | c.497-79_497-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.497-79_497-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) c.530-79_530-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.530-79_530-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) c.404-79_404-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.404-79_404-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) n.606-79_606-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527120_17527162del | CA935547377 | USH1C | c.496+62_497-79del (n.496+62_497-79del) c.529+62_530-79del (n.529+62_530-79del) c.403+62_404-79del (n.403+62_404-79del) n.605+62_606-79del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527207_17527208insCCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGC | CA2612676876 | USH1C | c.497-79_497-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.497-79_497-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) c.530-79_530-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.530-79_530-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) c.404-79_404-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.404-79_404-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) n.606-79_606-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG | gnomAD v4 |
11 | g.17527119_17527120insTGG | CA2612676893 | USH1C | c.497-80_497-79insCCA (n.497-80_497-79insCCA) c.530-80_530-79insCCA (n.530-80_530-79insCCA) c.404-80_404-79insCCA (n.404-80_404-79insCCA) n.606-80_606-79insCCA | gnomAD v4 |
11 | g.17527120C>A | CA2790594148 | USH1C | c.497-80G>T (n.497-80G>T) c.530-80G>T (n.530-80G>T) c.404-80G>T (n.404-80G>T) n.606-80G>T | |
11 | g.17527120C>T | CA2612676897 | USH1C | c.497-80G>A (n.497-80G>A) c.530-80G>A (n.530-80G>A) c.404-80G>A (n.404-80G>A) n.606-80G>A | gnomAD v4 |
11 | g.17527123_17527127del | CA2612676895 | USH1C | c.497-84_497-80del (n.497-84_497-80del) c.530-84_530-80del (n.530-84_530-80del) c.404-84_404-80del (n.404-84_404-80del) n.606-84_606-80del | dbSNP gnomAD v4 |
11 | g.17527120_17527149del | CA2790594145 | USH1C | c.496+74_497-80del (n.496+74_497-80del) c.529+74_530-80del (n.529+74_530-80del) c.403+74_404-80del (n.403+74_404-80del) n.605+74_606-80del | |
11 | g.17527124_17527167del | CA935547379 | USH1C | c.496+60_497-80del (n.496+60_497-80del) c.529+60_530-80del (n.529+60_530-80del) c.403+60_404-80del (n.403+60_404-80del) n.605+60_606-80del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527120_17527121insAGT | CA2790594158 | USH1C | c.497-81_497-80insACT (n.497-81_497-80insACT) c.530-81_530-80insACT (n.530-81_530-80insACT) c.404-81_404-80insACT (n.404-81_404-80insACT) n.606-81_606-80insACT | |
11 | g.17527120_17527121insAGAT | CA2790594156 | USH1C | c.497-81_497-80insATCT (n.497-81_497-80insATCT) c.530-81_530-80insATCT (n.530-81_530-80insATCT) c.404-81_404-80insATCT (n.404-81_404-80insATCT) n.606-81_606-80insATCT | |
11 | g.17527121C>A | CA2574769507 | USH1C | c.497-81G>T (n.497-81G>T) c.530-81G>T (n.530-81G>T) c.404-81G>T (n.404-81G>T) n.606-81G>T | |
11 | g.17527121C>G | CA2612676902 | USH1C | c.497-81G>C (n.497-81G>C) c.530-81G>C (n.530-81G>C) c.404-81G>C (n.404-81G>C) n.606-81G>C | gnomAD v4 |
11 | g.17527121C>T | CA2790594155 | USH1C | c.497-81G>A (n.497-81G>A) c.530-81G>A (n.530-81G>A) c.404-81G>A (n.404-81G>A) n.606-81G>A | |
11 | g.17527124_17527127del | CA2612676900 | USH1C | c.497-84_497-81del (n.497-84_497-81del) c.530-84_530-81del (n.530-84_530-81del) c.404-84_404-81del (n.404-84_404-81del) n.606-84_606-81del | gnomAD v4 |
11 | g.17527124_17527139del | CA2517189317 | USH1C | c.496+87_497-81del (n.496+87_497-81del) c.529+87_530-81del (n.529+87_530-81del) c.403+87_404-81del (n.403+87_404-81del) n.605+87_606-81del | gnomAD v4 |
11 | g.17527121_17527122insAGTG | CA2790594165 | USH1C | c.497-82_497-81insCACT (n.497-82_497-81insCACT) c.530-82_530-81insCACT (n.530-82_530-81insCACT) c.404-82_404-81insCACT (n.404-82_404-81insCACT) n.606-82_606-81insCACT | |
11 | g.17527122C>A | CA2790594169 | USH1C | c.497-82G>T (n.497-82G>T) c.530-82G>T (n.530-82G>T) c.404-82G>T (n.404-82G>T) n.606-82G>T | |
11 | g.17527122C>G | CA2612676905 | USH1C | c.497-82G>C (n.497-82G>C) c.530-82G>C (n.530-82G>C) c.404-82G>C (n.404-82G>C) n.606-82G>C | gnomAD v4 |
11 | g.17527122C>T | CA2790594170 | USH1C | c.497-82G>A (n.497-82G>A) c.530-82G>A (n.530-82G>A) c.404-82G>A (n.404-82G>A) n.606-82G>A | |
11 | g.17527124_17527126del | CA2790594168 | USH1C | c.497-84_497-82del (n.497-84_497-82del) c.530-84_530-82del (n.530-84_530-82del) c.404-84_404-82del (n.404-84_404-82del) n.606-84_606-82del | |
11 | g.17527122_17527123insACA | CA2790594177 | USH1C | c.497-83_497-82insTGT (n.497-83_497-82insTGT) c.530-83_530-82insTGT (n.530-83_530-82insTGT) c.404-83_404-82insTGT (n.404-83_404-82insTGT) n.606-83_606-82insTGT | |
11 | g.17527123C>A | CA2612676913 | USH1C | c.497-83G>T (n.497-83G>T) c.530-83G>T (n.530-83G>T) c.404-83G>T (n.404-83G>T) n.606-83G>T | gnomAD v4 |
11 | g.17527123C= | CA1955186955 | USH1C | c.497-83G= (n.497-83G=) c.530-83G= (n.530-83G=) c.404-83G= (n.404-83G=) n.606-83G= | |
11 | g.17527123C>G | CA2574769511 | USH1C | c.497-83G>C (n.497-83G>C) c.530-83G>C (n.530-83G>C) c.404-83G>C (n.404-83G>C) n.606-83G>C | gnomAD v4 |
11 | g.17527123C>T | CA597668833 | USH1C | c.497-83G>A (n.497-83G>A) c.530-83G>A (n.530-83G>A) c.404-83G>A (n.404-83G>A) n.606-83G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527124_17527125del | CA2612676922 | USH1C | c.497-84_497-83del (n.497-84_497-83del) c.530-84_530-83del (n.530-84_530-83del) c.404-84_404-83del (n.404-84_404-83del) n.606-84_606-83del | gnomAD v4 |
11 | g.17527124_17527129del | CA2612676920 | USH1C | c.497-88_497-83del (n.497-88_497-83del) c.530-88_530-83del (n.530-88_530-83del) c.404-88_404-83del (n.404-88_404-83del) n.606-88_606-83del | gnomAD v4 |
11 | g.17527124_17527133del | CA2612676919 | USH1C | c.497-92_497-83del (n.497-92_497-83del) c.530-92_530-83del (n.530-92_530-83del) c.404-92_404-83del (n.404-92_404-83del) n.606-92_606-83del | gnomAD v4 |
11 | g.17527124_17527137del | CA2790594176 | USH1C | c.496+87_497-83del (n.496+87_497-83del) c.529+87_530-83del (n.529+87_530-83del) c.403+87_404-83del (n.403+87_404-83del) n.605+87_606-83del | |
11 | g.17527123_17527124insACA | CA2790594192 | USH1C | c.497-84_497-83insTGT (n.497-84_497-83insTGT) c.530-84_530-83insTGT (n.530-84_530-83insTGT) c.404-84_404-83insTGT (n.404-84_404-83insTGT) n.606-84_606-83insTGT | |
11 | g.17527123_17527124insAGT | CA2790594191 | USH1C | c.497-84_497-83insACT (n.497-84_497-83insACT) c.530-84_530-83insACT (n.530-84_530-83insACT) c.404-84_404-83insACT (n.404-84_404-83insACT) n.606-84_606-83insACT | |
11 | g.17527124del | CA2612676945 | USH1C | c.497-84del (n.497-84del) c.530-84del (n.530-84del) c.404-84del (n.404-84del) n.606-84del | gnomAD v4 |
11 | g.17527124G>A | CA597668834 | USH1C | c.497-84C>T (n.497-84C>T) c.530-84C>T (n.530-84C>T) c.404-84C>T (n.404-84C>T) n.606-84C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17527124G>C | CA597668835 | USH1C | c.497-84C>G (n.497-84C>G) c.530-84C>G (n.530-84C>G) c.404-84C>G (n.404-84C>G) n.606-84C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527124G= | CA1955186956 | USH1C | c.497-84C= (n.497-84C=) c.530-84C= (n.530-84C=) c.404-84C= (n.404-84C=) n.606-84C= | |
11 | g.17527124G>T | CA1955186957 | USH1C | c.497-84C>A (n.497-84C>A) c.530-84C>A (n.530-84C>A) c.404-84C>A (n.404-84C>A) n.606-84C>A | dbSNP gnomAD v4 |
11 | g.17527124_17527126delinsGCC | CA1955186959 | USH1C | c.497-86_497-84delinsGGC (n.497-86_497-84delinsGGC) c.530-86_530-84delinsGGC (n.530-86_530-84delinsGGC) c.404-86_404-84delinsGGC (n.404-86_404-84delinsGGC) n.606-86_606-84delinsGGC | |
11 | g.17527124_17527128del | CA2528445387 | USH1C | c.497-88_497-84del (n.497-88_497-84del) c.530-88_530-84del (n.530-88_530-84del) c.404-88_404-84del (n.404-88_404-84del) n.606-88_606-84del | dbSNP gnomAD v4 |
11 | g.17527124_17527128delinsGCCCT | CA1955186958 | USH1C | c.497-88_497-84delinsAGGGC (n.497-88_497-84delinsAGGGC) c.530-88_530-84delinsAGGGC (n.530-88_530-84delinsAGGGC) c.404-88_404-84delinsAGGGC (n.404-88_404-84delinsAGGGC) n.606-88_606-84delinsAGGGC | |
11 | g.17527124_17527132del | CA2515751012 | USH1C | c.497-92_497-84del (n.497-92_497-84del) c.530-92_530-84del (n.530-92_530-84del) c.404-92_404-84del (n.404-92_404-84del) n.606-92_606-84del | gnomAD v4 |
11 | g.17527124_17527136del | CA2612676943 | USH1C | c.496+87_497-84del (n.496+87_497-84del) c.529+87_530-84del (n.529+87_530-84del) c.403+87_404-84del (n.403+87_404-84del) n.605+87_606-84del | gnomAD v4 |
11 | g.17527124_17527140del | CA2547258678 | USH1C | c.496+83_497-84del (n.496+83_497-84del) c.529+83_530-84del (n.529+83_530-84del) c.403+83_404-84del (n.403+83_404-84del) n.605+83_606-84del | gnomAD v4 |
11 | g.17527125_17527149del | CA2790594190 | USH1C | c.496+75_497-84del (n.496+75_497-84del) c.529+75_530-84del (n.529+75_530-84del) c.403+75_404-84del (n.403+75_404-84del) n.605+75_606-84del | |
11 | g.17527124_17527163del | CA2517033213 | USH1C | c.496+60_497-84del (n.496+60_497-84del) c.529+60_530-84del (n.529+60_530-84del) c.403+60_404-84del (n.403+60_404-84del) n.605+60_606-84del | gnomAD v4 |
11 | g.17527167_17527168insTGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCC | CA935547383 | USH1C | c.497-84_497-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.497-84_497-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) c.530-84_530-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.530-84_530-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) c.404-84_404-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.404-84_404-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) n.606-84_606-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC | gnomAD v3 gnomAD v4 |
11 | g.17527209_17527210insCCCTGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612676928 | USH1C | c.497-84_497-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.497-84_497-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) c.530-84_530-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.530-84_530-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) c.404-84_404-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.404-84_404-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) n.606-84_606-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC | gnomAD v4 |
11 | g.17527124_17527125insAGA | CA2790594199 | USH1C | c.497-85_497-84insTCT (n.497-85_497-84insTCT) c.530-85_530-84insTCT (n.530-85_530-84insTCT) c.404-85_404-84insTCT (n.404-85_404-84insTCT) n.606-85_606-84insTCT | |
11 | g.17527125C>A | CA2790594200 | USH1C | c.497-85G>T (n.497-85G>T) c.530-85G>T (n.530-85G>T) c.404-85G>T (n.404-85G>T) n.606-85G>T | |
11 | g.17527125C>T | CA2612676956 | USH1C | c.497-85G>A (n.497-85G>A) c.530-85G>A (n.530-85G>A) c.404-85G>A (n.404-85G>A) n.606-85G>A | gnomAD v4 |
11 | g.17527125_17527126insACTC | CA1955186962 | USH1C | c.497-85_497-84insAGTG (n.497-85_497-84insAGTG) c.530-85_530-84insAGTG (n.530-85_530-84insAGTG) c.404-85_404-84insAGTG (n.404-85_404-84insAGTG) n.606-85_606-84insAGTG | dbSNP |
11 | g.17527126_17527127del | CA935547386 | USH1C | c.497-86_497-85del (n.497-86_497-85del) c.530-86_530-85del (n.530-86_530-85del) c.404-86_404-85del (n.404-86_404-85del) n.606-86_606-85del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527136_17527139dup | CA2612676973 | USH1C | c.497-88_497-85dup (n.497-88_497-85dup) c.530-88_530-85dup (n.530-88_530-85dup) c.404-88_404-85dup (n.404-88_404-85dup) n.606-88_606-85dup | gnomAD v4 |
11 | g.17527132_17527139dup | CA1955186961 | USH1C | c.497-92_497-85dup (n.497-92_497-85dup) c.530-92_530-85dup (n.530-92_530-85dup) c.404-92_404-85dup (n.404-92_404-85dup) n.606-92_606-85dup | dbSNP |
11 | g.17527136_17527139del | CA379795081 | USH1C | c.497-88_497-85del (n.497-88_497-85del) c.530-88_530-85del (n.530-88_530-85del) c.404-88_404-85del (n.404-88_404-85del) n.606-88_606-85del | dbSNP gnomAD v4 |
11 | g.17527126_17527139del | CA2612676967 | USH1C | c.496+85_497-85del (n.496+85_497-85del) c.529+85_530-85del (n.529+85_530-85del) c.403+85_404-85del (n.403+85_404-85del) n.605+85_606-85del | gnomAD v4 |
11 | g.17527125_17527142del | CA2612676964 | USH1C | c.496+81_497-85del (n.496+81_497-85del) c.529+81_530-85del (n.529+81_530-85del) c.403+81_404-85del (n.403+81_404-85del) n.605+81_606-85del | gnomAD v4 |
11 | g.17527126_17527142del | CA2612676966 | USH1C | c.496+82_497-85del (n.496+82_497-85del) c.529+82_530-85del (n.529+82_530-85del) c.403+82_404-85del (n.403+82_404-85del) n.605+82_606-85del | gnomAD v4 |
11 | g.17527125_17527152delinsCCCTCCCTCCCTCCCACCGTCATGGAGT | CA1955186960 | USH1C | c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG (n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG) c.529+71_530-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG (n.529+71_530-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG) c.403+71_404-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG (n.403+71_404-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG) n.605+71_606-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG | |
11 | g.17527125_17527162del | CA2612676962 | USH1C | c.496+61_497-85del (n.496+61_497-85del) c.529+61_530-85del (n.529+61_530-85del) c.403+61_404-85del (n.403+61_404-85del) n.605+61_606-85del | gnomAD v4 |
11 | g.17527127_17527168del | CA2612676960 | USH1C | c.496+57_497-85del (n.496+57_497-85del) c.529+57_530-85del (n.529+57_530-85del) c.403+57_404-85del (n.403+57_404-85del) n.605+57_606-85del | gnomAD v4 |
11 | g.17527136_17527184del | CA2612676959 | USH1C | c.496+50_497-85del (n.496+50_497-85del) c.529+50_530-85del (n.529+50_530-85del) c.403+50_404-85del (n.403+50_404-85del) n.605+50_606-85del | gnomAD v4 |
11 | g.17527201_17527202insACCTGCTCCCCCACCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTG | CA2612676970 | USH1C | c.497-85_497-84insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.497-85_497-84insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) c.530-85_530-84insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.530-85_530-84insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) c.404-85_404-84insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.404-85_404-84insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) n.606-85_606-84insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG | gnomAD v4 |
11 | g.17527125_17527126insAA | CA2790594203 | USH1C | c.497-86_497-85insTT (n.497-86_497-85insTT) c.530-86_530-85insTT (n.530-86_530-85insTT) c.404-86_404-85insTT (n.404-86_404-85insTT) n.606-86_606-85insTT | |
11 | g.17527125_17527126insTA | CA2790594205 | USH1C | c.497-86_497-85insTA (n.497-86_497-85insTA) c.530-86_530-85insTA (n.530-86_530-85insTA) c.404-86_404-85insTA (n.404-86_404-85insTA) n.606-86_606-85insTA | |
11 | g.17527126C>A | CA1955186964 | USH1C | c.497-86G>T (n.497-86G>T) c.530-86G>T (n.530-86G>T) c.404-86G>T (n.404-86G>T) n.606-86G>T | dbSNP |
11 | g.17527126C= | CA1955186963 | USH1C | c.497-86G= (n.497-86G=) c.530-86G= (n.530-86G=) c.404-86G= (n.404-86G=) n.606-86G= | |
11 | g.17527126C>G | CA2612676980 | USH1C | c.497-86G>C (n.497-86G>C) c.530-86G>C (n.530-86G>C) c.404-86G>C (n.404-86G>C) n.606-86G>C | gnomAD v4 |
11 | g.17527126C>T | CA597668840 | USH1C | c.497-86G>A (n.497-86G>A) c.530-86G>A (n.530-86G>A) c.404-86G>A (n.404-86G>A) n.606-86G>A | dbSNP gnomAD v2 |
11 | g.17527126_17527152del | CA597668838 | USH1C | c.496+71_497-86del (n.496+71_497-86del) c.529+71_530-86del (n.529+71_530-86del) c.403+71_404-86del (n.403+71_404-86del) n.605+71_606-86del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527127C>A | CA2574769519 | USH1C | c.497-87G>T (n.497-87G>T) c.530-87G>T (n.530-87G>T) c.404-87G>T (n.404-87G>T) n.606-87G>T | |
11 | g.17527127C>T | CA2790594206 | USH1C | c.497-87G>A (n.497-87G>A) c.530-87G>A (n.530-87G>A) c.404-87G>A (n.404-87G>A) n.606-87G>A | |
11 | g.17527128_17527129del | CA2612676984 | USH1C | c.497-88_497-87del (n.497-88_497-87del) c.530-88_530-87del (n.530-88_530-87del) c.404-88_404-87del (n.404-88_404-87del) n.606-88_606-87del | gnomAD v4 |
11 | g.17527128del | CA2612676993 | USH1C | c.497-88del (n.497-88del) c.530-88del (n.530-88del) c.404-88del (n.404-88del) n.606-88del | gnomAD v4 |
11 | g.17527128T>A | CA2612676988 | USH1C | c.497-88A>T (n.497-88A>T) c.530-88A>T (n.530-88A>T) c.404-88A>T (n.404-88A>T) n.606-88A>T | gnomAD v4 |
11 | g.17527128T>C | CA597668842 | USH1C | c.497-88A>G (n.497-88A>G) c.530-88A>G (n.530-88A>G) c.404-88A>G (n.404-88A>G) n.606-88A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527128T= | CA1955186965 | USH1C | c.497-88A= (n.497-88A=) c.530-88A= (n.530-88A=) c.404-88A= (n.404-88A=) n.606-88A= | |
11 | g.17527128_17527132del | CA2612676990 | USH1C | c.497-92_497-88del (n.497-92_497-88del) c.530-92_530-88del (n.530-92_530-88del) c.404-92_404-88del (n.404-92_404-88del) n.606-92_606-88del | gnomAD v4 |
11 | g.17527128_17527136del | CA2612676986 | USH1C | c.496+87_497-88del (n.496+87_497-88del) c.529+87_530-88del (n.529+87_530-88del) c.403+87_404-88del (n.403+87_404-88del) n.605+87_606-88del | gnomAD v4 |
11 | g.17527128_17527140del | CA2612676992 | USH1C | c.496+83_497-88del (n.496+83_497-88del) c.529+83_530-88del (n.529+83_530-88del) c.403+83_404-88del (n.403+83_404-88del) n.605+83_606-88del | gnomAD v4 |
11 | g.17527128_17527144del | CA2612676989 | USH1C | c.496+79_497-88del (n.496+79_497-88del) c.529+79_530-88del (n.529+79_530-88del) c.403+79_404-88del (n.403+79_404-88del) n.605+79_606-88del | gnomAD v4 |
11 | g.17527128_17527171delinsTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCC | CA1955186966 | USH1C | c.496+52_497-88delinsGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGA (n.496+52_497-88delinsGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGA) c.529+52_530-88delinsGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGA (n.529+52_530-88delinsGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGA) c.403+52_404-88delinsGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGA (n.403+52_404-88delinsGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGA) n.605+52_606-88delinsGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGA | |
11 | g.17527129C>A | CA2790594211 | USH1C | c.497-89G>T (n.497-89G>T) c.530-89G>T (n.530-89G>T) c.404-89G>T (n.404-89G>T) n.606-89G>T | |
11 | g.17527131_17527139del | CA2790594210 | USH1C | c.496+86_497-89del (n.496+86_497-89del) c.529+86_530-89del (n.529+86_530-89del) c.403+86_404-89del (n.403+86_404-89del) n.605+86_606-89del | |
11 | g.17527132_17527167del | CA935547391 | USH1C | c.496+59_497-89del (n.496+59_497-89del) c.529+59_530-89del (n.529+59_530-89del) c.403+59_404-89del (n.403+59_404-89del) n.605+59_606-89del | gnomAD v3 gnomAD v4 |
11 | g.17527129_17527168del | CA2612677001 | USH1C | c.496+55_497-89del (n.496+55_497-89del) c.529+55_530-89del (n.529+55_530-89del) c.403+55_404-89del (n.403+55_404-89del) n.605+55_606-89del | dbSNP gnomAD v4 |
11 | g.17527132_17527168del | CA2592429716 | USH1C | c.496+58_497-89del (n.496+58_497-89del) c.529+58_530-89del (n.529+58_530-89del) c.403+58_404-89del (n.403+58_404-89del) n.605+58_606-89del | gnomAD v3 gnomAD v4 |
11 | g.17527131_17527168del | CA2612677000 | USH1C | c.496+57_497-89del (n.496+57_497-89del) c.529+57_530-89del (n.529+57_530-89del) c.403+57_404-89del (n.403+57_404-89del) n.605+57_606-89del | gnomAD v4 |
11 | g.17527172_17527173insCCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCC | CA2612676996 | USH1C | c.497-89_497-88insGGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.497-89_497-88insGGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) c.530-89_530-88insGGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.530-89_530-88insGGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) c.404-89_404-88insGGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.404-89_404-88insGGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) n.606-89_606-88insGGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG | gnomAD v4 |
11 | g.17527172_17527173insGCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCC | CA2612676998 | USH1C | c.497-89_497-88insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.497-89_497-88insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) c.530-89_530-88insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.530-89_530-88insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) c.404-89_404-88insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.404-89_404-88insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) n.606-89_606-88insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG | gnomAD v4 |
11 | g.17527130_17527172del | CA935547394 | USH1C | c.496+52_497-89del (n.496+52_497-89del) c.529+52_530-89del (n.529+52_530-89del) c.403+52_404-89del (n.403+52_404-89del) n.605+52_606-89del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527140_17527180dup | CA2612676995 | USH1C | c.496+54_497-89dup (n.496+54_497-89dup) c.529+54_530-89dup (n.529+54_530-89dup) c.403+54_404-89dup (n.403+54_404-89dup) n.605+54_606-89dup | gnomAD v4 |
11 | g.17527140_17527180del | CA2612677002 | USH1C | c.496+54_497-89del (n.496+54_497-89del) c.529+54_530-89del (n.529+54_530-89del) c.403+54_404-89del (n.403+54_404-89del) n.605+54_606-89del | gnomAD v4 |
11 | g.17527129_17527130insA | CA2790594212 | USH1C | c.497-90_497-89insT (n.497-90_497-89insT) c.530-90_530-89insT (n.530-90_530-89insT) c.404-90_404-89insT (n.404-90_404-89insT) n.606-90_606-89insT | |
11 | g.17527130C>A | CA2790594214 | USH1C | c.497-90G>T (n.497-90G>T) c.530-90G>T (n.530-90G>T) c.404-90G>T (n.404-90G>T) n.606-90G>T | |
11 | g.17527130C>G | CA2790594215 | USH1C | c.497-90G>C (n.497-90G>C) c.530-90G>C (n.530-90G>C) c.404-90G>C (n.404-90G>C) n.606-90G>C | |
11 | g.17527132_17527142del | CA935547410 | USH1C | c.496+83_497-90del (n.496+83_497-90del) c.529+83_530-90del (n.529+83_530-90del) c.403+83_404-90del (n.403+83_404-90del) n.605+83_606-90del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527130_17527149del | CA2790594213 | USH1C | c.496+74_497-90del (n.496+74_497-90del) c.529+74_530-90del (n.529+74_530-90del) c.403+74_404-90del (n.403+74_404-90del) n.605+74_606-90del | |
11 | g.17527131C>A | CA2790594220 | USH1C | c.497-91G>T (n.497-91G>T) c.530-91G>T (n.530-91G>T) c.404-91G>T (n.404-91G>T) n.606-91G>T | |
11 | g.17527131C= | CA1955186967 | USH1C | c.497-91G= (n.497-91G=) c.530-91G= (n.530-91G=) c.404-91G= (n.404-91G=) n.606-91G= | |
11 | g.17527131C>G | CA2790594219 | USH1C | c.497-91G>C (n.497-91G>C) c.530-91G>C (n.530-91G>C) c.404-91G>C (n.404-91G>C) n.606-91G>C | |
11 | g.17527131C>T | CA1955186968 | USH1C | c.497-91G>A (n.497-91G>A) c.530-91G>A (n.530-91G>A) c.404-91G>A (n.404-91G>A) n.606-91G>A | dbSNP gnomAD v4 |
11 | g.17527131_17527149del | CA2790594218 | USH1C | c.496+74_497-91del (n.496+74_497-91del) c.529+74_530-91del (n.529+74_530-91del) c.403+74_404-91del (n.403+74_404-91del) n.605+74_606-91del | |
11 | g.17527131_17527132insAG | CA2790594223 | USH1C | c.497-92_497-91insCT (n.497-92_497-91insCT) c.530-92_530-91insCT (n.530-92_530-91insCT) c.404-92_404-91insCT (n.404-92_404-91insCT) n.606-92_606-91insCT | |
11 | g.17527131_17527132insACA | CA2790594222 | USH1C | c.497-92_497-91insTGT (n.497-92_497-91insTGT) c.530-92_530-91insTGT (n.530-92_530-91insTGT) c.404-92_404-91insTGT (n.404-92_404-91insTGT) n.606-92_606-91insTGT | |
11 | g.17527132del | CA2612677009 | USH1C | c.497-92del (n.497-92del) c.530-92del (n.530-92del) c.404-92del (n.404-92del) n.606-92del | gnomAD v4 |
11 | g.17527132T>C | CA597668843 | USH1C | c.497-92A>G (n.497-92A>G) c.530-92A>G (n.530-92A>G) c.404-92A>G (n.404-92A>G) n.606-92A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527132T>G | CA597668844 | USH1C | c.497-92A>C (n.497-92A>C) c.530-92A>C (n.530-92A>C) c.404-92A>C (n.404-92A>C) n.606-92A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527132T= | CA1955186969 | USH1C | c.497-92A= (n.497-92A=) c.530-92A= (n.530-92A=) c.404-92A= (n.404-92A=) n.606-92A= | |
11 | g.17527132_17527136del | CA2612677008 | USH1C | c.496+87_497-92del (n.496+87_497-92del) c.529+87_530-92del (n.529+87_530-92del) c.403+87_404-92del (n.403+87_404-92del) n.605+87_606-92del | gnomAD v4 |
11 | g.17527132_17527140del | CA2612677007 | USH1C | c.496+83_497-92del (n.496+83_497-92del) c.529+83_530-92del (n.529+83_530-92del) c.403+83_404-92del (n.403+83_404-92del) n.605+83_606-92del | gnomAD v4 |
11 | g.17527132_17527169delinsTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCG | CA1955186970 | USH1C | c.496+54_497-92delinsCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGA (n.496+54_497-92delinsCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGA) c.529+54_530-92delinsCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGA (n.529+54_530-92delinsCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGA) c.403+54_404-92delinsCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGA (n.403+54_404-92delinsCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGA) n.605+54_606-92delinsCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGA | |
11 | g.17527133C>A | CA2790594226 | USH1C | c.496+90G>T (n.496+90G>T) c.529+90G>T (n.529+90G>T) c.403+90G>T (n.403+90G>T) n.605+90G>T | |
11 | g.17527133C>T | CA2790594227 | USH1C | c.496+90G>A (n.496+90G>A) c.529+90G>A (n.529+90G>A) c.403+90G>A (n.403+90G>A) n.605+90G>A | |
11 | g.17527135del | CA2790594224 | USH1C | c.496+90del (n.496+90del) c.529+90del (n.529+90del) c.403+90del (n.403+90del) n.605+90del | |
11 | g.17527133_17527139del | CA2790594225 | USH1C | c.496+84_496+90del (n.496+84_496+90del) c.529+84_529+90del (n.529+84_529+90del) c.403+84_403+90del (n.403+84_403+90del) n.605+84_605+90del | |
11 | g.17527134_17527139del | CA2612677017 | USH1C | c.496+85_496+90del (n.496+85_496+90del) c.529+85_529+90del (n.529+85_529+90del) c.403+85_403+90del (n.403+85_403+90del) n.605+85_605+90del | gnomAD v4 |
11 | g.17527133_17527142del | CA2612677018 | USH1C | c.496+81_496+90del (n.496+81_496+90del) c.529+81_529+90del (n.529+81_529+90del) c.403+81_403+90del (n.403+81_403+90del) n.605+81_605+90del | gnomAD v4 |
11 | g.17527176_17527177insCCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCC | CA2538071624 | USH1C | c.496+90_497-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.496+90_497-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) c.529+90_530-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.529+90_530-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) c.403+90_404-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.403+90_404-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) n.605+90_606-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG | gnomAD v4 |
11 | g.17527140_17527176del | CA935547418 | USH1C | c.496+54_496+90del (n.496+54_496+90del) c.529+54_529+90del (n.529+54_529+90del) c.403+54_403+90del (n.403+54_403+90del) n.605+54_605+90del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCCCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612677013 | USH1C | c.496+90_497-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.496+90_497-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) c.529+90_530-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.529+90_530-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) c.403+90_404-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.403+90_404-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) n.605+90_606-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCGCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612677015 | USH1C | c.496+90_497-92insCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.496+90_497-92insCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) c.529+90_530-92insCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.529+90_530-92insCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) c.403+90_404-92insCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.403+90_404-92insCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) n.605+90_606-92insCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG | gnomAD v4 |
11 | g.17527133_17527134insAGAT | CA2790594229 | USH1C | c.496+89_496+90insATCT (n.496+89_496+90insATCT) c.529+89_529+90insATCT (n.529+89_529+90insATCT) c.403+89_403+90insATCT (n.403+89_403+90insATCT) n.605+89_605+90insATCT | |
11 | g.17527134C>A | CA2790594232 | USH1C | c.496+89G>T (n.496+89G>T) c.529+89G>T (n.529+89G>T) c.403+89G>T (n.403+89G>T) n.605+89G>T | |
11 | g.17527134C>T | CA2574769521 | USH1C | c.496+89G>A (n.496+89G>A) c.529+89G>A (n.529+89G>A) c.403+89G>A (n.403+89G>A) n.605+89G>A | |
11 | g.17527134_17527149del | CA2790594230 | USH1C | c.496+74_496+89del (n.496+74_496+89del) c.529+74_529+89del (n.529+74_529+89del) c.403+74_403+89del (n.403+74_403+89del) n.605+74_605+89del | |
11 | g.17527134_17527135insACG | CA2790594234 | USH1C | c.496+88_496+89insCGT (n.496+88_496+89insCGT) c.529+88_529+89insCGT (n.529+88_529+89insCGT) c.403+88_403+89insCGT (n.403+88_403+89insCGT) n.605+88_605+89insCGT | |
11 | g.17527135C>A | CA2612677029 | USH1C | c.496+88G>T (n.496+88G>T) c.529+88G>T (n.529+88G>T) c.403+88G>T (n.403+88G>T) n.605+88G>T | gnomAD v4 |
11 | g.17527135C>G | CA2790594235 | USH1C | c.496+88G>C (n.496+88G>C) c.529+88G>C (n.529+88G>C) c.403+88G>C (n.403+88G>C) n.605+88G>C | |
11 | g.17527135C>T | CA2539703152 | USH1C | c.496+88G>A (n.496+88G>A) c.529+88G>A (n.529+88G>A) c.403+88G>A (n.403+88G>A) n.605+88G>A | |
11 | g.17527136_17527137del | CA2612677027 | USH1C | c.496+87_496+88del (n.496+87_496+88del) c.529+87_529+88del (n.529+87_529+88del) c.403+87_403+88del (n.403+87_403+88del) n.605+87_605+88del | gnomAD v4 |
11 | g.17527135_17527149del | CA2790594236 | USH1C | c.496+74_496+88del (n.496+74_496+88del) c.529+74_529+88del (n.529+74_529+88del) c.403+74_403+88del (n.403+74_403+88del) n.605+74_605+88del | |
11 | g.17527178_17527179insACTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTC | CA2612677019 | USH1C | c.496+88_496+89insTGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG (n.496+88_496+89insTGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG) c.529+88_529+89insTGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG (n.529+88_529+89insTGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG) c.403+88_403+89insTGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG (n.403+88_403+89insTGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG) n.605+88_605+89insTGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCTCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612677024 | USH1C | c.496+88_496+89insAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG (n.496+88_496+89insAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG) c.529+88_529+89insAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG (n.529+88_529+89insAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG) c.403+88_403+89insAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG (n.403+88_403+89insAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG) n.605+88_605+89insAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG | gnomAD v4 |
11 | g.17527136del | CA2612677033 | USH1C | c.496+87del (n.496+87del) c.529+87del (n.529+87del) c.403+87del (n.403+87del) n.605+87del | gnomAD v4 |
11 | g.17527136T>A | CA2574769522 | USH1C | c.496+87A>T (n.496+87A>T) c.529+87A>T (n.529+87A>T) c.403+87A>T (n.403+87A>T) n.605+87A>T | |
11 | g.17527136T>C | CA597668846 | USH1C | c.496+87A>G (n.496+87A>G) c.529+87A>G (n.529+87A>G) c.403+87A>G (n.403+87A>G) n.605+87A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527136T>G | CA597668847 | USH1C | c.496+87A>C (n.496+87A>C) c.529+87A>C (n.529+87A>C) c.403+87A>C (n.403+87A>C) n.605+87A>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527136T= | CA1955186971 | USH1C | c.496+87A= (n.496+87A=) c.529+87A= (n.529+87A=) c.403+87A= (n.403+87A=) n.605+87A= | |
11 | g.17527136_17527140del | CA2612677035 | USH1C | c.496+83_496+87del (n.496+83_496+87del) c.529+83_529+87del (n.529+83_529+87del) c.403+83_403+87del (n.403+83_403+87del) n.605+83_605+87del | gnomAD v4 |
11 | g.17527137C>A | CA2790594238 | USH1C | c.496+86G>T (n.496+86G>T) c.529+86G>T (n.529+86G>T) c.403+86G>T (n.403+86G>T) n.605+86G>T | |
11 | g.17527137C= | CA1955186972 | USH1C | c.496+86G= (n.496+86G=) c.529+86G= (n.529+86G=) c.403+86G= (n.403+86G=) n.605+86G= | |
11 | g.17527137C>T | CA674239558 | USH1C | c.496+86G>A (n.496+86G>A) c.529+86G>A (n.529+86G>A) c.403+86G>A (n.403+86G>A) n.605+86G>A | dbSNP |
11 | g.17527180_17527181insACCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCC | CA2612677037 | USH1C | c.496+86_496+87insTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.496+86_496+87insTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) c.529+86_529+87insTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.529+86_529+87insTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) c.403+86_403+87insTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.403+86_403+87insTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) n.605+86_605+87insTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG | gnomAD v4 |
11 | g.17527180_17527181insCCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCC | CA2612677039 | USH1C | c.496+86_496+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.496+86_496+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) c.529+86_529+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.529+86_529+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) c.403+86_403+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.403+86_403+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) n.605+86_605+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG | gnomAD v4 |
11 | g.17527180_17527181insGCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCC | CA2612677041 | USH1C | c.496+86_496+87insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.496+86_496+87insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) c.529+86_529+87insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.529+86_529+87insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) c.403+86_403+87insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.403+86_403+87insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) n.605+86_605+87insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCCCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612677043 | USH1C | c.496+86_496+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.496+86_496+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) c.529+86_529+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.529+86_529+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) c.403+86_403+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.403+86_403+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) n.605+86_605+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG | gnomAD v4 |
11 | g.17527138C>A | CA2574769525 | USH1C | c.496+85G>T (n.496+85G>T) c.529+85G>T (n.529+85G>T) c.403+85G>T (n.403+85G>T) n.605+85G>T | |
11 | g.17527140_17527142del | CA2790594239 | USH1C | c.496+83_496+85del (n.496+83_496+85del) c.529+83_529+85del (n.529+83_529+85del) c.403+83_403+85del (n.403+83_403+85del) n.605+83_605+85del | |
11 | g.17527139C>A | CA2612677045 | USH1C | c.496+84G>T (n.496+84G>T) c.529+84G>T (n.529+84G>T) c.403+84G>T (n.403+84G>T) n.605+84G>T | gnomAD v4 |
11 | g.17527139_17527143del | CA2612677048 | USH1C | c.496+80_496+84del (n.496+80_496+84del) c.529+80_529+84del (n.529+80_529+84del) c.403+80_403+84del (n.403+80_403+84del) n.605+80_605+84del | gnomAD v4 |
11 | g.17527182_17527183insACACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTC | CA2612677049 | USH1C | c.496+84_496+85insTGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTG (n.496+84_496+85insTGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTG) c.529+84_529+85insTGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTG (n.529+84_529+85insTGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTG) c.403+84_403+85insTGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTG (n.403+84_403+85insTGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTG) n.605+84_605+85insTGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTG | gnomAD v4 |
11 | g.17527139_17527140insGGGGG | CA2612677059 | USH1C | c.496+83_496+84insCCCCC (n.496+83_496+84insCCCCC) c.529+83_529+84insCCCCC (n.529+83_529+84insCCCCC) c.403+83_403+84insCCCCC (n.403+83_403+84insCCCCC) n.605+83_605+84insCCCCC | gnomAD v4 |
11 | g.17527139_17527140insTGGGG | CA2612677067 | USH1C | c.496+83_496+84insCCCCA (n.496+83_496+84insCCCCA) c.529+83_529+84insCCCCA (n.529+83_529+84insCCCCA) c.403+83_403+84insCCCCA (n.403+83_403+84insCCCCA) n.605+83_605+84insCCCCA | gnomAD v4 |
11 | g.17527139_17527140insTGGGGA | CA2612677066 | USH1C | c.496+83_496+84insTCCCCA (n.496+83_496+84insTCCCCA) c.529+83_529+84insTCCCCA (n.529+83_529+84insTCCCCA) c.403+83_403+84insTCCCCA (n.403+83_403+84insTCCCCA) n.605+83_605+84insTCCCCA | gnomAD v4 |
11 | g.17527139_17527140insTGGGGG | CA2612677065 | USH1C | c.496+83_496+84insCCCCCA (n.496+83_496+84insCCCCCA) c.529+83_529+84insCCCCCA (n.529+83_529+84insCCCCCA) c.403+83_403+84insCCCCCA (n.403+83_403+84insCCCCCA) n.605+83_605+84insCCCCCA | gnomAD v4 |
11 | g.17527139_17527140insTGGGGGA | CA2612677064 | USH1C | c.496+83_496+84insTCCCCCA (n.496+83_496+84insTCCCCCA) c.529+83_529+84insTCCCCCA (n.529+83_529+84insTCCCCCA) c.403+83_403+84insTCCCCCA (n.403+83_403+84insTCCCCCA) n.605+83_605+84insTCCCCCA | gnomAD v4 |
11 | g.17527139_17527140insTGGGGGG | CA2612677063 | USH1C | c.496+83_496+84insCCCCCCA (n.496+83_496+84insCCCCCCA) c.529+83_529+84insCCCCCCA (n.529+83_529+84insCCCCCCA) c.403+83_403+84insCCCCCCA (n.403+83_403+84insCCCCCCA) n.605+83_605+84insCCCCCCA | gnomAD v4 |
11 | g.17527139_17527140insTTGGGGA | CA2612677062 | USH1C | c.496+83_496+84insTCCCCAA (n.496+83_496+84insTCCCCAA) c.529+83_529+84insTCCCCAA (n.529+83_529+84insTCCCCAA) c.403+83_403+84insTCCCCAA (n.403+83_403+84insTCCCCAA) n.605+83_605+84insTCCCCAA | gnomAD v4 |
11 | g.17527140del | CA2612677061 | USH1C | c.496+83del (n.496+83del) c.529+83del (n.529+83del) c.403+83del (n.403+83del) n.605+83del | gnomAD v4 |
11 | g.17527140A= | CA1955186973 | USH1C | c.496+83T= (n.496+83T=) c.529+83T= (n.529+83T=) c.403+83T= (n.403+83T=) n.605+83T= | |
11 | g.17527140A>C | CA597668853 | USH1C | c.496+83T>G (n.496+83T>G) c.529+83T>G (n.529+83T>G) c.403+83T>G (n.403+83T>G) n.605+83T>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527140A>G | CA2612677060 | USH1C | c.496+83T>C (n.496+83T>C) c.529+83T>C (n.529+83T>C) c.403+83T>C (n.403+83T>C) n.605+83T>C | gnomAD v4 |
11 | g.17527140A>T | CA597668850 | USH1C | c.496+83T>A (n.496+83T>A) c.529+83T>A (n.529+83T>A) c.403+83T>A (n.403+83T>A) n.605+83T>A | gnomAD v2 |
11 | g.17527140_17527141insAA | CA2612677074 | USH1C | c.496+83_496+84insTT (n.496+83_496+84insTT) c.529+83_529+84insTT (n.529+83_529+84insTT) c.403+83_403+84insTT (n.403+83_403+84insTT) n.605+83_605+84insTT | gnomAD v4 |
11 | g.17527140_17527141insAAA | CA2612677072 | USH1C | c.496+83_496+84insTTT (n.496+83_496+84insTTT) c.529+83_529+84insTTT (n.529+83_529+84insTTT) c.403+83_403+84insTTT (n.403+83_403+84insTTT) n.605+83_605+84insTTT | gnomAD v4 |
11 | g.17527140_17527141insGGGGA | CA2790594240 | USH1C | c.496+83_496+84insCCCCT (n.496+83_496+84insCCCCT) c.529+83_529+84insCCCCT (n.529+83_529+84insCCCCT) c.403+83_403+84insCCCCT (n.403+83_403+84insCCCCT) n.605+83_605+84insCCCCT | |
11 | g.17527140_17527141insAGGGGA | CA2612677070 | USH1C | c.496+83_496+84insCCCCTT (n.496+83_496+84insCCCCTT) c.529+83_529+84insCCCCTT (n.529+83_529+84insCCCCTT) c.403+83_403+84insCCCCTT (n.403+83_403+84insCCCCTT) n.605+83_605+84insCCCCTT | gnomAD v4 |
11 | g.17527140_17527141insGGGGGA | CA2612677068 | USH1C | c.496+83_496+84insCCCCCT (n.496+83_496+84insCCCCCT) c.529+83_529+84insCCCCCT (n.529+83_529+84insCCCCCT) c.403+83_403+84insCCCCCT (n.403+83_403+84insCCCCCT) n.605+83_605+84insCCCCCT | gnomAD v4 |
11 | g.17527140_17527141insAGGGGGAA | CA2612677069 | USH1C | c.496+83_496+84insTCCCCCTT (n.496+83_496+84insTCCCCCTT) c.529+83_529+84insTCCCCCTT (n.529+83_529+84insTCCCCCTT) c.403+83_403+84insTCCCCCTT (n.403+83_403+84insTCCCCCTT) n.605+83_605+84insTCCCCCTT | gnomAD v4 |
11 | g.17527140_17527156del | CA597668849 | USH1C | c.496+67_496+83del (n.496+67_496+83del) c.529+67_529+83del (n.529+67_529+83del) c.403+67_403+83del (n.403+67_403+83del) n.605+67_605+83del | gnomAD v2 |
11 | g.17527141C>A | CA2612677077 | USH1C | c.496+82G>T (n.496+82G>T) c.529+82G>T (n.529+82G>T) c.403+82G>T (n.403+82G>T) n.605+82G>T | gnomAD v4 |
11 | g.17527141C>G | CA2612677076 | USH1C | c.496+82G>C (n.496+82G>C) c.529+82G>C (n.529+82G>C) c.403+82G>C (n.403+82G>C) n.605+82G>C | gnomAD v4 |
11 | g.17527141_17527142del | CA2612677080 | USH1C | c.496+81_496+82del (n.496+81_496+82del) c.529+81_529+82del (n.529+81_529+82del) c.403+81_403+82del (n.403+81_403+82del) n.605+81_605+82del | gnomAD v4 |
11 | g.17527142del | CA2574769530 | USH1C | c.496+82del (n.496+82del) c.529+82del (n.529+82del) c.403+82del (n.403+82del) n.605+82del | gnomAD v4 |
11 | g.17527141_17527143delinsCCG | CA1955186975 | USH1C | c.496+80_496+82delinsCGG (n.496+80_496+82delinsCGG) c.529+80_529+82delinsCGG (n.529+80_529+82delinsCGG) c.403+80_403+82delinsCGG (n.403+80_403+82delinsCGG) n.605+80_605+82delinsCGG | |
11 | g.17527141_17527144delinsCCGT | CA1955186974 | USH1C | c.496+79_496+82delinsACGG (n.496+79_496+82delinsACGG) c.529+79_529+82delinsACGG (n.529+79_529+82delinsACGG) c.403+79_403+82delinsACGG (n.403+79_403+82delinsACGG) n.605+79_605+82delinsACGG | |
11 | g.17527142_17527145del | CA2612677081 | USH1C | c.496+79_496+82del (n.496+79_496+82del) c.529+79_529+82del (n.529+79_529+82del) c.403+79_403+82del (n.403+79_403+82del) n.605+79_605+82del | gnomAD v4 |
11 | g.17527143_17527159del | CA2592429717 | USH1C | c.496+66_496+82del (n.496+66_496+82del) c.529+66_529+82del (n.529+66_529+82del) c.403+66_403+82del (n.403+66_403+82del) n.605+66_605+82del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527143_17527166del | CA2790594244 | USH1C | c.496+59_496+82del (n.496+59_496+82del) c.529+59_529+82del (n.529+59_529+82del) c.403+59_403+82del (n.403+59_403+82del) n.605+59_605+82del | |
11 | g.17527143_17527171del | CA2612677079 | USH1C | c.496+54_496+82del (n.496+54_496+82del) c.529+54_529+82del (n.529+54_529+82del) c.403+54_403+82del (n.403+54_403+82del) n.605+54_605+82del | dbSNP gnomAD v4 |
11 | g.17527142_17527172del | CA2612677078 | USH1C | c.496+52_496+82del (n.496+52_496+82del) c.529+52_529+82del (n.529+52_529+82del) c.403+52_403+82del (n.403+52_403+82del) n.605+52_605+82del | gnomAD v4 |
11 | g.17527184_17527185insCCCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCC | CA2612677082 | USH1C | c.496+82_496+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG (n.496+82_496+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG) c.529+82_529+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG (n.529+82_529+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG) c.403+82_403+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG (n.403+82_403+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG) n.605+82_605+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCCCCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2554687777 | USH1C | c.496+82_496+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG (n.496+82_496+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG) c.529+82_529+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG (n.529+82_529+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG) c.403+82_403+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG (n.403+82_403+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG) n.605+82_605+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG | |
11 | g.17527141_17527142insG | CA2612677084 | USH1C | c.496+81_496+82insC (n.496+81_496+82insC) c.529+81_529+82insC (n.529+81_529+82insC) c.403+81_403+82insC (n.403+81_403+82insC) n.605+81_605+82insC | gnomAD v4 |
11 | g.17527142C>A | CA2612677085 | USH1C | c.496+81G>T (n.496+81G>T) c.529+81G>T (n.529+81G>T) c.403+81G>T (n.403+81G>T) n.605+81G>T | gnomAD v4 |
11 | g.17527142C= | CA1955186976 | USH1C | c.496+81G= (n.496+81G=) c.529+81G= (n.529+81G=) c.403+81G= (n.403+81G=) n.605+81G= | |
11 | g.17527142C>G | CA1955186977 | USH1C | c.496+81G>C (n.496+81G>C) c.529+81G>C (n.529+81G>C) c.403+81G>C (n.403+81G>C) n.605+81G>C | dbSNP gnomAD v4 |
11 | g.17527142C>T | CA674239562 | USH1C | c.496+81G>A (n.496+81G>A) c.529+81G>A (n.529+81G>A) c.403+81G>A (n.403+81G>A) n.605+81G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527142_17527143del | CA935547448 | USH1C | c.496+80_496+81del (n.496+80_496+81del) c.529+80_529+81del (n.529+80_529+81del) c.403+80_403+81del (n.403+80_403+81del) n.605+80_605+81del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527143_17527145del | CA935547450 | USH1C | c.496+79_496+81del (n.496+79_496+81del) c.529+79_529+81del (n.529+79_529+81del) c.403+79_403+81del (n.403+79_403+81del) n.605+79_605+81del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527143G>A | CA597668856 | USH1C | c.496+80C>T (n.496+80C>T) c.529+80C>T (n.529+80C>T) c.403+80C>T (n.403+80C>T) n.605+80C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527143G>C | CA2612677089 | USH1C | c.496+80C>G (n.496+80C>G) c.529+80C>G (n.529+80C>G) c.403+80C>G (n.403+80C>G) n.605+80C>G | gnomAD v4 |
11 | g.17527143G= | CA1955186978 | USH1C | c.496+80C= (n.496+80C=) c.529+80C= (n.529+80C=) c.403+80C= (n.403+80C=) n.605+80C= | |
11 | g.17527143_17527144insGGG | CA2612677086 | USH1C | c.496+80_496+81insCCC (n.496+80_496+81insCCC) c.529+80_529+81insCCC (n.529+80_529+81insCCC) c.403+80_403+81insCCC (n.403+80_403+81insCCC) n.605+80_605+81insCCC | gnomAD v4 |
11 | g.17527143_17527144insGGGGG | CA2612677087 | USH1C | c.496+80_496+81insCCCCC (n.496+80_496+81insCCCCC) c.529+80_529+81insCCCCC (n.529+80_529+81insCCCCC) c.403+80_403+81insCCCCC (n.403+80_403+81insCCCCC) n.605+80_605+81insCCCCC | gnomAD v4 |
11 | g.17527186_17527187insAGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCAC | CA2612677088 | USH1C | c.496+80_496+81insTGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGAC (n.496+80_496+81insTGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGAC) c.529+80_529+81insTGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGAC (n.529+80_529+81insTGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGAC) c.403+80_403+81insTGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGAC (n.403+80_403+81insTGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGAC) n.605+80_605+81insTGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGAC | gnomAD v4 |
11 | g.17527144T>C | CA2612677091 | USH1C | c.496+79A>G (n.496+79A>G) c.529+79A>G (n.529+79A>G) c.403+79A>G (n.403+79A>G) n.605+79A>G | gnomAD v4 |
11 | g.17527144T>G | CA597668858 | USH1C | c.496+79A>C (n.496+79A>C) c.529+79A>C (n.529+79A>C) c.403+79A>C (n.403+79A>C) n.605+79A>C | dbSNP gnomAD v2 |
11 | g.17527144T= | CA1955186979 | USH1C | c.496+79A= (n.496+79A=) c.529+79A= (n.529+79A=) c.403+79A= (n.403+79A=) n.605+79A= | |
11 | g.17527144_17527177del | CA935547460 | USH1C | c.496+46_496+79del (n.496+46_496+79del) c.529+46_529+79del (n.529+46_529+79del) c.403+46_403+79del (n.403+46_403+79del) n.605+46_605+79del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527187_17527188insATCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACC | CA935547458 | USH1C | c.496+79_496+80insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA (n.496+79_496+80insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA) c.529+79_529+80insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA (n.529+79_529+80insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA) c.403+79_403+80insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA (n.403+79_403+80insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA) n.605+79_605+80insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA | gnomAD v3 gnomAD v4 |
11 | g.17527145_17527187del | CA935547470 | USH1C | c.496+36_496+78del (n.496+36_496+78del) c.529+36_529+78del (n.529+36_529+78del) c.403+36_403+78del (n.403+36_403+78del) n.605+36_605+78del | gnomAD v3 gnomAD v4 |
11 | g.17527188_17527189insGCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCG | CA2612677092 | USH1C | c.496+78_496+79insCCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATG (n.496+78_496+79insCCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATG) c.529+78_529+79insCCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATG (n.529+78_529+79insCCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATG) c.403+78_403+79insCCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATG (n.403+78_403+79insCCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATG) n.605+78_605+79insCCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATG | gnomAD v4 |
11 | g.17527146A= | CA1955186982 | USH1C | c.496+77T= (n.496+77T=) c.529+77T= (n.529+77T=) c.403+77T= (n.403+77T=) n.605+77T= | |
11 | g.17527146A>C | CA1955186981 | USH1C | c.496+77T>G (n.496+77T>G) c.529+77T>G (n.529+77T>G) c.403+77T>G (n.403+77T>G) n.605+77T>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527146A>G | CA674239567 | USH1C | c.496+77T>C (n.496+77T>C) c.529+77T>C (n.529+77T>C) c.403+77T>C (n.403+77T>C) n.605+77T>C | dbSNP |
11 | g.17527146_17527147del | CA935547474 | USH1C | c.496+76_496+77del (n.496+76_496+77del) c.529+76_529+77del (n.529+76_529+77del) c.403+76_403+77del (n.403+76_403+77del) n.605+76_605+77del | gnomAD v3 gnomAD v4 |
11 | g.17527147_17527153del | CA2612677093 | USH1C | c.496+71_496+77del (n.496+71_496+77del) c.529+71_529+77del (n.529+71_529+77del) c.403+71_403+77del (n.403+71_403+77del) n.605+71_605+77del | gnomAD v4 |
11 | g.17527146_17527188delinsATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCG | CA1955186980 | USH1C | c.496+35_496+77delinsCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCAT (n.496+35_496+77delinsCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCAT) c.529+35_529+77delinsCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCAT (n.529+35_529+77delinsCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCAT) c.403+35_403+77delinsCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCAT (n.403+35_403+77delinsCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCAT) n.605+35_605+77delinsCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCAT | |
11 | g.17527147T>C | CA1955186984 | USH1C | c.496+76A>G (n.496+76A>G) c.529+76A>G (n.529+76A>G) c.403+76A>G (n.403+76A>G) n.605+76A>G | dbSNP gnomAD v4 |
11 | g.17527147T>G | CA2790594257 | USH1C | c.496+76A>C (n.496+76A>C) c.529+76A>C (n.529+76A>C) c.403+76A>C (n.403+76A>C) n.605+76A>C | |
11 | g.17527147T= | CA1955186983 | USH1C | c.496+76A= (n.496+76A=) c.529+76A= (n.529+76A=) c.403+76A= (n.403+76A=) n.605+76A= | |
11 | g.17527147_17527171del | CA2790594256 | USH1C | c.496+52_496+76del (n.496+52_496+76del) c.529+52_529+76del (n.529+52_529+76del) c.403+52_403+76del (n.403+52_403+76del) n.605+52_605+76del | |
11 | g.17527147_17527187del | CA2612677097 | USH1C | c.496+36_496+76del (n.496+36_496+76del) c.529+36_529+76del (n.529+36_529+76del) c.403+36_403+76del (n.403+36_403+76del) n.605+36_605+76del | gnomAD v4 |
11 | g.17527148_17527189del | CA935547475 | USH1C | c.496+35_496+76del (n.496+35_496+76del) c.529+35_529+76del (n.529+35_529+76del) c.403+35_403+76del (n.403+35_403+76del) n.605+35_605+76del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527190_17527191insCTGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTC | CA2612677096 | USH1C | c.496+76_496+77insGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA (n.496+76_496+77insGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA) c.529+76_529+77insGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA (n.529+76_529+77insGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA) c.403+76_403+77insGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA (n.403+76_403+77insGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA) n.605+76_605+77insGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCGTGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612677095 | USH1C | c.496+76_496+77insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA (n.496+76_496+77insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA) c.529+76_529+77insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA (n.529+76_529+77insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA) c.403+76_403+77insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA (n.403+76_403+77insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA) n.605+76_605+77insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA | gnomAD v4 |
11 | g.17527148G>T | CA1139768483 | USH1C | c.496+75C>A (n.496+75C>A) c.529+75C>A (n.529+75C>A) c.403+75C>A (n.403+75C>A) n.605+75C>A | |
11 | g.17527148_17527151del | CA2612677099 | USH1C | c.496+72_496+75del (n.496+72_496+75del) c.529+72_529+75del (n.529+72_529+75del) c.403+72_403+75del (n.403+72_403+75del) n.605+72_605+75del | gnomAD v4 |
11 | g.17527148_17527190dup | CA918828309 | USH1C | c.496+33_496+75dup (n.496+33_496+75dup) c.529+33_529+75dup (n.529+33_529+75dup) c.403+33_403+75dup (n.403+33_403+75dup) n.605+33_605+75dup | dbSNP |
11 | g.17527191_17527192insGGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCA | CA2612677098 | USH1C | c.496+75_496+76insCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCC (n.496+75_496+76insCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCC) c.529+75_529+76insCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCC (n.529+75_529+76insCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCC) c.403+75_403+76insCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCC (n.403+75_403+76insCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCC) n.605+75_605+76insCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCC | gnomAD v4 |
11 | g.17527149_17527212del | CA935547476 | USH1C | c.496+12_496+75del (n.496+12_496+75del) c.529+12_529+75del (n.529+12_529+75del) c.403+12_403+75del (n.403+12_403+75del) n.605+12_605+75del | gnomAD v3 gnomAD v4 |
11 | g.17527149G>T | CA2612677100 | USH1C | c.496+74C>A (n.496+74C>A) c.529+74C>A (n.529+74C>A) c.403+74C>A (n.403+74C>A) n.605+74C>A | gnomAD v4 |
11 | g.17527149_17527191del | CA935547479 | USH1C | c.496+32_496+74del (n.496+32_496+74del) c.529+32_529+74del (n.529+32_529+74del) c.403+32_403+74del (n.403+32_403+74del) n.605+32_605+74del | gnomAD v3 gnomAD v4 |
11 | g.17527192_17527193insTGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCAT | CA2612677101 | USH1C | c.496+74_496+75insAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTC (n.496+74_496+75insAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTC) c.529+74_529+75insAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTC (n.529+74_529+75insAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTC) c.403+74_403+75insAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTC (n.403+74_403+75insAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTC) n.605+74_605+75insAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTC | gnomAD v4 |
11 | g.17527150A>T | CA2790594258 | USH1C | c.496+73T>A (n.496+73T>A) c.529+73T>A (n.529+73T>A) c.403+73T>A (n.403+73T>A) n.605+73T>A | |
11 | g.17527150_17527195del | CA2612677102 | USH1C | c.496+28_496+73del (n.496+28_496+73del) c.529+28_529+73del (n.529+28_529+73del) c.403+28_403+73del (n.403+28_403+73del) n.605+28_605+73del | gnomAD v4 |
11 | g.17527151G>A | CA2612677103 | USH1C | c.496+72C>T (n.496+72C>T) c.529+72C>T (n.529+72C>T) c.403+72C>T (n.403+72C>T) n.605+72C>T | gnomAD v4 |
11 | g.17527151G>C | CA2612677104 | USH1C | c.496+72C>G (n.496+72C>G) c.529+72C>G (n.529+72C>G) c.403+72C>G (n.403+72C>G) n.605+72C>G | gnomAD v4 |
11 | g.17527151G>T | CA2574769536 | USH1C | c.496+72C>A (n.496+72C>A) c.529+72C>A (n.529+72C>A) c.403+72C>A (n.403+72C>A) n.605+72C>A | |
11 | g.17527151_17527163del | CA2790594259 | USH1C | c.496+60_496+72del (n.496+60_496+72del) c.529+60_529+72del (n.529+60_529+72del) c.403+60_403+72del (n.403+60_403+72del) n.605+60_605+72del | |
11 | g.17527152T>G | CA597668861 | USH1C | c.496+71A>C (n.496+71A>C) c.529+71A>C (n.529+71A>C) c.403+71A>C (n.403+71A>C) n.605+71A>C | dbSNP gnomAD v2 |
11 | g.17527152T= | CA1955186985 | USH1C | c.496+71A= (n.496+71A=) c.529+71A= (n.529+71A=) c.403+71A= (n.403+71A=) n.605+71A= | |
11 | g.17527153_17527177del | CA2790594261 | USH1C | c.496+47_496+71del (n.496+47_496+71del) c.529+47_529+71del (n.529+47_529+71del) c.403+47_403+71del (n.403+47_403+71del) n.605+47_605+71del | |
11 | g.17527153_17527181del | CA2790594260 | USH1C | c.496+43_496+71del (n.496+43_496+71del) c.529+43_529+71del (n.529+43_529+71del) c.403+43_403+71del (n.403+43_403+71del) n.605+43_605+71del | |
11 | g.17527152_17527187del | CA2723302927 | USH1C | c.496+36_496+71del (n.496+36_496+71del) c.529+36_529+71del (n.529+36_529+71del) c.403+36_403+71del (n.403+36_403+71del) n.605+36_605+71del | dbSNP |
11 | g.17527153A>T | CA597668863 | USH1C | c.496+70T>A (n.496+70T>A) c.529+70T>A (n.529+70T>A) c.403+70T>A (n.403+70T>A) n.605+70T>A | gnomAD v2 |
11 | g.17527153_17527172del | CA2790594262 | USH1C | c.496+51_496+70del (n.496+51_496+70del) c.529+51_529+70del (n.529+51_529+70del) c.403+51_403+70del (n.403+51_403+70del) n.605+51_605+70del | |
11 | g.17527153_17527175del | CA2790594263 | USH1C | c.496+48_496+70del (n.496+48_496+70del) c.529+48_529+70del (n.529+48_529+70del) c.403+48_403+70del (n.403+48_403+70del) n.605+48_605+70del | |
11 | g.17527154del | CA2612677105 | USH1C | c.496+69del (n.496+69del) c.529+69del (n.529+69del) c.403+69del (n.403+69del) n.605+69del | gnomAD v4 |
11 | g.17527154C>G | CA2612677108 | USH1C | c.496+69G>C (n.496+69G>C) c.529+69G>C (n.529+69G>C) c.403+69G>C (n.403+69G>C) n.605+69G>C | gnomAD v4 |
11 | g.17527154C>T | CA2574769537 | USH1C | c.496+69G>A (n.496+69G>A) c.529+69G>A (n.529+69G>A) c.403+69G>A (n.403+69G>A) n.605+69G>A | gnomAD v4 |
11 | g.17527154_17527155del | CA2612677106 | USH1C | c.496+68_496+69del (n.496+68_496+69del) c.529+68_529+69del (n.529+68_529+69del) c.403+68_403+69del (n.403+68_403+69del) n.605+68_605+69del | gnomAD v4 |
11 | g.17527155_17527158del | CA2612677107 | USH1C | c.496+66_496+69del (n.496+66_496+69del) c.529+66_529+69del (n.529+66_529+69del) c.403+66_403+69del (n.403+66_403+69del) n.605+66_605+69del | gnomAD v4 |
11 | g.17527155T>C | CA2612677111 | USH1C | c.496+68A>G (n.496+68A>G) c.529+68A>G (n.529+68A>G) c.403+68A>G (n.403+68A>G) n.605+68A>G | gnomAD v4 |
11 | g.17527155T>G | CA2790594264 | USH1C | c.496+68A>C (n.496+68A>C) c.529+68A>C (n.529+68A>C) c.403+68A>C (n.403+68A>C) n.605+68A>C | |
11 | g.17527155_17527169delinsTGCCCTGCTCCCCCG | CA1955186986 | USH1C | c.496+54_496+68delinsCGGGGGAGCAGGGCA (n.496+54_496+68delinsCGGGGGAGCAGGGCA) c.529+54_529+68delinsCGGGGGAGCAGGGCA (n.529+54_529+68delinsCGGGGGAGCAGGGCA) c.403+54_403+68delinsCGGGGGAGCAGGGCA (n.403+54_403+68delinsCGGGGGAGCAGGGCA) n.605+54_605+68delinsCGGGGGAGCAGGGCA | |
11 | g.17527155_17527192del | CA2612677110 | USH1C | c.496+31_496+68del (n.496+31_496+68del) c.529+31_529+68del (n.529+31_529+68del) c.403+31_403+68del (n.403+31_403+68del) n.605+31_605+68del | gnomAD v4 |
11 | g.17527156G>C | CA674239572 | USH1C | c.496+67C>G (n.496+67C>G) c.529+67C>G (n.529+67C>G) c.403+67C>G (n.403+67C>G) n.605+67C>G | dbSNP |
11 | g.17527156G= | CA1955186987 | USH1C | c.496+67C= (n.496+67C=) c.529+67C= (n.529+67C=) c.403+67C= (n.403+67C=) n.605+67C= | |
11 | g.17527156_17527169del | CA597668864 | USH1C | c.496+54_496+67del (n.496+54_496+67del) c.529+54_529+67del (n.529+54_529+67del) c.403+54_403+67del (n.403+54_403+67del) n.605+54_605+67del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527156_17527199del | CA2612677113 | USH1C | c.496+24_496+67del (n.496+24_496+67del) c.529+24_529+67del (n.529+24_529+67del) c.403+24_403+67del (n.403+24_403+67del) n.605+24_605+67del | gnomAD v4 |
11 | g.17527199_17527200insGGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTAC | CA2612677115 | USH1C | c.496+67_496+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC (n.496+67_496+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC) c.529+67_529+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC (n.529+67_529+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC) c.403+67_403+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC (n.403+67_403+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC) n.605+67_605+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACGGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612677114 | USH1C | c.496+67_496+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC (n.496+67_496+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC) c.529+67_529+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC (n.529+67_529+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC) c.403+67_403+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC (n.403+67_403+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC) n.605+67_605+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC | gnomAD v4 |
11 | g.17527156_17527157insA | CA2612677116 | USH1C | c.496+66_496+67insT (n.496+66_496+67insT) c.529+66_529+67insT (n.529+66_529+67insT) c.403+66_403+67insT (n.403+66_403+67insT) n.605+66_605+67insT | gnomAD v4 |
11 | g.17527157C>A | CA218461508 | USH1C | c.496+66G>T (n.496+66G>T) c.529+66G>T (n.529+66G>T) c.403+66G>T (n.403+66G>T) n.605+66G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527157C= | CA1630848614 | USH1C | c.496+66G= (n.496+66G=) c.529+66G= (n.529+66G=) c.403+66G= (n.403+66G=) n.605+66G= | |
11 | g.17527157C>G | CA1955186989 | USH1C | c.496+66G>C (n.496+66G>C) c.529+66G>C (n.529+66G>C) c.403+66G>C (n.403+66G>C) n.605+66G>C | dbSNP |
11 | g.17527157C>T | CA1955186988 | USH1C | c.496+66G>A (n.496+66G>A) c.529+66G>A (n.529+66G>A) c.403+66G>A (n.403+66G>A) n.605+66G>A | dbSNP gnomAD v4 |
11 | g.17527157_17527184del | CA2612677117 | USH1C | c.496+39_496+66del (n.496+39_496+66del) c.529+39_529+66del (n.529+39_529+66del) c.403+39_403+66del (n.403+39_403+66del) n.605+39_605+66del | dbSNP gnomAD v4 |
11 | g.17527157_17527199del | CA2612677118 | USH1C | c.496+24_496+66del (n.496+24_496+66del) c.529+24_529+66del (n.529+24_529+66del) c.403+24_403+66del (n.403+24_403+66del) n.605+24_605+66del | gnomAD v4 |
11 | g.17527158C>A | CA597668867 | USH1C | c.496+65G>T (n.496+65G>T) c.529+65G>T (n.529+65G>T) c.403+65G>T (n.403+65G>T) n.605+65G>T | gnomAD v2 gnomAD v4 |
11 | g.17527158C>T | CA2612677122 | USH1C | c.496+65G>A (n.496+65G>A) c.529+65G>A (n.529+65G>A) c.403+65G>A (n.403+65G>A) n.605+65G>A | gnomAD v4 |
11 | g.17527158_17527159insTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGAC | CA2612677121 | USH1C | c.496+65_496+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAG (n.496+65_496+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAG) c.529+65_529+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAG (n.529+65_529+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAG) c.403+65_403+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAG (n.403+65_403+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAG) n.605+65_605+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAG | gnomAD v4 |
11 | g.17527190_17527191insGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTC | CA918828311 | USH1C | c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.529+65_529+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.529+65_529+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.403+65_403+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.403+65_403+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.605+65_605+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | dbSNP |
11 | g.17527201_17527202insACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTG | CA2612677120 | USH1C | c.496+65_496+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.496+65_496+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.529+65_529+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.529+65_529+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.403+65_403+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.403+65_403+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.605+65_605+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527159C= | CA1955186991 | USH1C | c.496+64G= (n.496+64G=) c.529+64G= (n.529+64G=) c.403+64G= (n.403+64G=) n.605+64G= | |
11 | g.17527159C>T | CA1955186990 | USH1C | c.496+64G>A (n.496+64G>A) c.529+64G>A (n.529+64G>A) c.403+64G>A (n.403+64G>A) n.605+64G>A | dbSNP gnomAD v4 |
11 | g.17527160T>A | CA597668868 | USH1C | c.496+63A>T (n.496+63A>T) c.529+63A>T (n.529+63A>T) c.403+63A>T (n.403+63A>T) n.605+63A>T | gnomAD v2 gnomAD v4 |
11 | g.17527160T>C | CA1955186993 | USH1C | c.496+63A>G (n.496+63A>G) c.529+63A>G (n.529+63A>G) c.403+63A>G (n.403+63A>G) n.605+63A>G | dbSNP |
11 | g.17527160T>G | CA597668869 | USH1C | c.496+63A>C (n.496+63A>C) c.529+63A>C (n.529+63A>C) c.403+63A>C (n.403+63A>C) n.605+63A>C | gnomAD v2 gnomAD v4 |
11 | g.17527160T= | CA1955186992 | USH1C | c.496+63A= (n.496+63A=) c.529+63A= (n.529+63A=) c.403+63A= (n.403+63A=) n.605+63A= | |
11 | g.17527160_17527161del | CA2612677123 | USH1C | c.496+62_496+63del (n.496+62_496+63del) c.529+62_529+63del (n.529+62_529+63del) c.403+62_403+63del (n.403+62_403+63del) n.605+62_605+63del | gnomAD v4 |
11 | g.17527160_17527163del | CA2790594268 | USH1C | c.496+60_496+63del (n.496+60_496+63del) c.529+60_529+63del (n.529+60_529+63del) c.403+60_403+63del (n.403+60_403+63del) n.605+60_605+63del | |
11 | g.17527161G>A | CA2574769542 | USH1C | c.496+62C>T (n.496+62C>T) c.529+62C>T (n.529+62C>T) c.403+62C>T (n.403+62C>T) n.605+62C>T | |
11 | g.17527161_17527184del | CA2612677124 | USH1C | c.496+39_496+62del (n.496+39_496+62del) c.529+39_529+62del (n.529+39_529+62del) c.403+39_403+62del (n.403+39_403+62del) n.605+39_605+62del | gnomAD v4 |
11 | g.17527204_17527205insGGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC | CA2612677125 | USH1C | c.496+62_496+63insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.496+62_496+63insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.529+62_529+63insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.529+62_529+63insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.403+62_403+63insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.403+62_403+63insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.605+62_605+63insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | gnomAD v4 |
11 | g.17527162C= | CA1955186994 | USH1C | c.496+61G= (n.496+61G=) c.529+61G= (n.529+61G=) c.403+61G= (n.403+61G=) n.605+61G= | |
11 | g.17527162C>G | CA2574769543 | USH1C | c.496+61G>C (n.496+61G>C) c.529+61G>C (n.529+61G>C) c.403+61G>C (n.403+61G>C) n.605+61G>C | |
11 | g.17527162C>T | CA935547487 | USH1C | c.496+61G>A (n.496+61G>A) c.529+61G>A (n.529+61G>A) c.403+61G>A (n.403+61G>A) n.605+61G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527162_17527163insCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCCACCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCC | CA1139624376 | USH1C | c.496+61_496+62insGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGTGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGG (n.496+61_496+62insGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGTGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGG) c.529+61_529+62insGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGTGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGG (n.529+61_529+62insGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGTGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGG) c.403+61_403+62insGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGTGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGG (n.403+61_403+62insGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGTGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGG) n.605+61_605+62insGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGTGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGG | |
11 | g.17527163T>A | CA1955186997 | USH1C | c.496+60A>T (n.496+60A>T) c.529+60A>T (n.529+60A>T) c.403+60A>T (n.403+60A>T) n.605+60A>T | dbSNP |
11 | g.17527163T>C | CA674239580 | USH1C | c.496+60A>G (n.496+60A>G) c.529+60A>G (n.529+60A>G) c.403+60A>G (n.403+60A>G) n.605+60A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527163T= | CA1955186996 | USH1C | c.496+60A= (n.496+60A=) c.529+60A= (n.529+60A=) c.403+60A= (n.403+60A=) n.605+60A= | |
11 | g.17527163_17527166delinsTCCC | CA1955186995 | USH1C | c.496+57_496+60delinsGGGA (n.496+57_496+60delinsGGGA) c.529+57_529+60delinsGGGA (n.529+57_529+60delinsGGGA) c.403+57_403+60delinsGGGA (n.403+57_403+60delinsGGGA) n.605+57_605+60delinsGGGA | |
11 | g.17527163_17527205del | CA2612677128 | USH1C | c.496+18_496+60del (n.496+18_496+60del) c.529+18_529+60del (n.529+18_529+60del) c.403+18_403+60del (n.403+18_403+60del) n.605+18_605+60del | gnomAD v4 |
11 | g.17527206_17527207insTTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTG | CA2612677127 | USH1C | c.496+60_496+61insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.496+60_496+61insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) c.529+60_529+61insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.529+60_529+61insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) c.403+60_403+61insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.403+60_403+61insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) n.605+60_605+61insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA | gnomAD v4 |
11 | g.17527164C>A | CA2612677129 | USH1C | c.496+59G>T (n.496+59G>T) c.529+59G>T (n.529+59G>T) c.403+59G>T (n.403+59G>T) n.605+59G>T | gnomAD v4 |
11 | g.17527164C= | CA1955186998 | USH1C | c.496+59G= (n.496+59G=) c.529+59G= (n.529+59G=) c.403+59G= (n.403+59G=) n.605+59G= | |
11 | g.17527164C>G | CA218461513 | USH1C | c.496+59G>C (n.496+59G>C) c.529+59G>C (n.529+59G>C) c.403+59G>C (n.403+59G>C) n.605+59G>C | dbSNP |
11 | g.17527164C>T | CA1955186999 | USH1C | c.496+59G>A (n.496+59G>A) c.529+59G>A (n.529+59G>A) c.403+59G>A (n.403+59G>A) n.605+59G>A | dbSNP |
11 | g.17527166_17527168del | CA597668871 | USH1C | c.496+57_496+59del (n.496+57_496+59del) c.529+57_529+59del (n.529+57_529+59del) c.403+57_403+59del (n.403+57_403+59del) n.605+57_605+59del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527164_17527165insTGG | CA935547491 | USH1C | c.496+58_496+59insCCA (n.496+58_496+59insCCA) c.529+58_529+59insCCA (n.529+58_529+59insCCA) c.403+58_403+59insCCA (n.403+58_403+59insCCA) n.605+58_605+59insCCA | gnomAD v3 gnomAD v4 |
11 | g.17527165C= | CA1955187000 | USH1C | c.496+58G= (n.496+58G=) c.529+58G= (n.529+58G=) c.403+58G= (n.403+58G=) n.605+58G= | |
11 | g.17527165C>T | CA1955187001 | USH1C | c.496+58G>A (n.496+58G>A) c.529+58G>A (n.529+58G>A) c.403+58G>A (n.403+58G>A) n.605+58G>A | dbSNP |
11 | g.17527166C= | CA1955187002 | USH1C | c.496+57G= (n.496+57G=) c.529+57G= (n.529+57G=) c.403+57G= (n.403+57G=) n.605+57G= | |
11 | g.17527166C>T | CA1955187003 | USH1C | c.496+57G>A (n.496+57G>A) c.529+57G>A (n.529+57G>A) c.403+57G>A (n.403+57G>A) n.605+57G>A | dbSNP |
11 | g.17527166_17527210del | CA2612677130 | USH1C | c.496+13_496+57del (n.496+13_496+57del) c.529+13_529+57del (n.529+13_529+57del) c.403+13_403+57del (n.403+13_403+57del) n.605+13_605+57del | gnomAD v4 |
11 | g.17527167C>T | CA2574769546 | USH1C | c.496+56G>A (n.496+56G>A) c.529+56G>A (n.529+56G>A) c.403+56G>A (n.403+56G>A) n.605+56G>A | |
11 | g.17527168C>A | CA2612677131 | USH1C | c.496+55G>T (n.496+55G>T) c.529+55G>T (n.529+55G>T) c.403+55G>T (n.403+55G>T) n.605+55G>T | gnomAD v4 |
11 | g.17527168C= | CA1955187004 | USH1C | c.496+55G= (n.496+55G=) c.529+55G= (n.529+55G=) c.403+55G= (n.403+55G=) n.605+55G= | |
11 | g.17527168C>T | CA218461519 | USH1C | c.496+55G>A (n.496+55G>A) c.529+55G>A (n.529+55G>A) c.403+55G>A (n.403+55G>A) n.605+55G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527169G>A | CA674239584 | USH1C | c.496+54C>T (n.496+54C>T) c.529+54C>T (n.529+54C>T) c.403+54C>T (n.403+54C>T) n.605+54C>T | dbSNP gnomAD v4 |
11 | g.17527169G>C | CA597668872 | USH1C | c.496+54C>G (n.496+54C>G) c.529+54C>G (n.529+54C>G) c.403+54C>G (n.403+54C>G) n.605+54C>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527169G= | CA1955187005 | USH1C | c.496+54C= (n.496+54C=) c.529+54C= (n.529+54C=) c.403+54C= (n.403+54C=) n.605+54C= | |
11 | g.17527169G>T | CA1955187006 | USH1C | c.496+54C>A (n.496+54C>A) c.529+54C>A (n.529+54C>A) c.403+54C>A (n.403+54C>A) n.605+54C>A | dbSNP gnomAD v4 |
11 | g.17527209_17527210insCCCTGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2790594270 | USH1C | c.496+54_496+55insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.496+54_496+55insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) c.529+54_529+55insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.529+54_529+55insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) c.403+54_403+55insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.403+54_403+55insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) n.605+54_605+55insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC | |
11 | g.17527170C>G | CA597668875 | USH1C | c.496+53G>C (n.496+53G>C) c.529+53G>C (n.529+53G>C) c.403+53G>C (n.403+53G>C) n.605+53G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527170C>T | CA2612677132 | USH1C | c.496+53G>A (n.496+53G>A) c.529+53G>A (n.529+53G>A) c.403+53G>A (n.403+53G>A) n.605+53G>A | gnomAD v4 |
11 | g.17527170_17527171insACTC | CA1955187007 | USH1C | c.496+53_496+54insAGTG (n.496+53_496+54insAGTG) c.529+53_529+54insAGTG (n.529+53_529+54insAGTG) c.403+53_403+54insAGTG (n.403+53_403+54insAGTG) n.605+53_605+54insAGTG | dbSNP |
11 | g.17527177_17527184dup | CA674239588 | USH1C | c.496+46_496+53dup (n.496+46_496+53dup) c.529+46_529+53dup (n.529+46_529+53dup) c.403+46_403+53dup (n.403+46_403+53dup) n.605+46_605+53dup | dbSNP |
11 | g.17527181_17527184del | CA2574769548 | USH1C | c.496+50_496+53del (n.496+50_496+53del) c.529+50_529+53del (n.529+50_529+53del) c.403+50_403+53del (n.403+50_403+53del) n.605+50_605+53del | gnomAD v4 |
11 | g.17527171C>A | CA1955187009 | USH1C | c.496+52G>T (n.496+52G>T) c.529+52G>T (n.529+52G>T) c.403+52G>T (n.403+52G>T) n.605+52G>T | dbSNP |
11 | g.17527171C= | CA1955187008 | USH1C | c.496+52G= (n.496+52G=) c.529+52G= (n.529+52G=) c.403+52G= (n.403+52G=) n.605+52G= | |
11 | g.17527171C>T | CA1955187010 | USH1C | c.496+52G>A (n.496+52G>A) c.529+52G>A (n.529+52G>A) c.403+52G>A (n.403+52G>A) n.605+52G>A | dbSNP |
11 | g.17527172C>A | CA2790594272 | USH1C | c.496+51G>T (n.496+51G>T) c.529+51G>T (n.529+51G>T) c.403+51G>T (n.403+51G>T) n.605+51G>T | |
11 | g.17527172C>T | CA2508528879 | USH1C | c.496+51G>A (n.496+51G>A) c.529+51G>A (n.529+51G>A) c.403+51G>A (n.403+51G>A) n.605+51G>A | |
11 | g.17527173T>C | CA5905014 | USH1C | c.496+50A>G (n.496+50A>G) c.529+50A>G (n.529+50A>G) c.403+50A>G (n.403+50A>G) n.605+50A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17527173T>G | CA2574769549 | USH1C | c.496+50A>C (n.496+50A>C) c.529+50A>C (n.529+50A>C) c.403+50A>C (n.403+50A>C) n.605+50A>C | gnomAD v4 |
11 | g.17527173T= | CA1955187011 | USH1C | c.496+50A= (n.496+50A=) c.529+50A= (n.529+50A=) c.403+50A= (n.403+50A=) n.605+50A= | |
11 | g.17527174C>A | CA597668881 | USH1C | c.496+49G>T (n.496+49G>T) c.529+49G>T (n.529+49G>T) c.403+49G>T (n.403+49G>T) n.605+49G>T | dbSNP gnomAD v2 |
11 | g.17527174C= | CA1955187013 | USH1C | c.496+49G= (n.496+49G=) c.529+49G= (n.529+49G=) c.403+49G= (n.403+49G=) n.605+49G= | |
11 | g.17527174C>T | CA1955187012 | USH1C | c.496+49G>A (n.496+49G>A) c.529+49G>A (n.529+49G>A) c.403+49G>A (n.403+49G>A) n.605+49G>A | dbSNP gnomAD v4 |
11 | g.17527176del | CA2574769551 | USH1C | c.496+49del (n.496+49del) c.529+49del (n.529+49del) c.403+49del (n.403+49del) n.605+49del | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612677135 | USH1C | c.496+49_496+50insCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.496+49_496+50insCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) c.529+49_529+50insCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.529+49_529+50insCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) c.403+49_403+50insCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.403+49_403+50insCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) n.605+49_605+50insCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCGCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612677137 | USH1C | c.496+49_496+50insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.496+49_496+50insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) c.529+49_529+50insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.529+49_529+50insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) c.403+49_403+50insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.403+49_403+50insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) n.605+49_605+50insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG | gnomAD v4 |
11 | g.17527175C>A | CA5905015 | USH1C | c.496+48G>T (n.496+48G>T) c.529+48G>T (n.529+48G>T) c.403+48G>T (n.403+48G>T) n.605+48G>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
11 | g.17527175C= | CA1955187014 | USH1C | c.496+48G= (n.496+48G=) c.529+48G= (n.529+48G=) c.403+48G= (n.403+48G=) n.605+48G= | |
11 | g.17527175C>T | CA5905016 | USH1C | c.496+48G>A (n.496+48G>A) c.529+48G>A (n.529+48G>A) c.403+48G>A (n.403+48G>A) n.605+48G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17527176C>A | CA5905017 | USH1C | c.496+47G>T (n.496+47G>T) c.529+47G>T (n.529+47G>T) c.403+47G>T (n.403+47G>T) n.605+47G>T | dbSNP ExAC |
11 | g.17527176C= | CA1955187015 | USH1C | c.496+47G= (n.496+47G=) c.529+47G= (n.529+47G=) c.403+47G= (n.403+47G=) n.605+47G= | |
11 | g.17527176C>T | CA597668883 | USH1C | c.496+47G>A (n.496+47G>A) c.529+47G>A (n.529+47G>A) c.403+47G>A (n.403+47G>A) n.605+47G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527179_17527220del | CA935547498 | USH1C | c.496+6_496+47del (n.496+6_496+47del) c.529+6_529+47del (n.529+6_529+47del) c.403+6_403+47del (n.403+6_403+47del) n.605+6_605+47del | gnomAD v3 gnomAD v4 |
11 | g.17527177T>C | CA5905018 | USH1C | c.496+46A>G (n.496+46A>G) c.529+46A>G (n.529+46A>G) c.403+46A>G (n.403+46A>G) n.605+46A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17527177T>G | CA218461549 | USH1C | c.496+46A>C (n.496+46A>C) c.529+46A>C (n.529+46A>C) c.403+46A>C (n.403+46A>C) n.605+46A>C | dbSNP gnomAD v4 |
11 | g.17527177T= | CA1955187016 | USH1C | c.496+46A= (n.496+46A=) c.529+46A= (n.529+46A=) c.403+46A= (n.403+46A=) n.605+46A= | |
11 | g.17527178C>A | CA2790594273 | USH1C | c.496+45G>T (n.496+45G>T) c.529+45G>T (n.529+45G>T) c.403+45G>T (n.403+45G>T) n.605+45G>T | |
11 | g.17527178C= | CA1955187017 | USH1C | c.496+45G= (n.496+45G=) c.529+45G= (n.529+45G=) c.403+45G= (n.403+45G=) n.605+45G= | |
11 | g.17527178C>G | CA5905019 | USH1C | c.496+45G>C (n.496+45G>C) c.529+45G>C (n.529+45G>C) c.403+45G>C (n.403+45G>C) n.605+45G>C | dbSNP ExAC |
11 | g.17527178C>T | CA935547514 | USH1C | c.496+45G>A (n.496+45G>A) c.529+45G>A (n.529+45G>A) c.403+45G>A (n.403+45G>A) n.605+45G>A | gnomAD v3 gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCCCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612677142 | USH1C | c.496+45_496+46insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.496+45_496+46insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) c.529+45_529+46insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.529+45_529+46insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) c.403+45_403+46insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.403+45_403+46insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) n.605+45_605+46insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG | gnomAD v4 |
11 | g.17527179C>A | CA1955187018 | USH1C | c.496+44G>T (n.496+44G>T) c.529+44G>T (n.529+44G>T) c.403+44G>T (n.403+44G>T) n.605+44G>T | dbSNP gnomAD v4 |
11 | g.17527179C= | CA1955187019 | USH1C | c.496+44G= (n.496+44G=) c.529+44G= (n.529+44G=) c.403+44G= (n.403+44G=) n.605+44G= | |
11 | g.17527179C>T | CA2574769555 | USH1C | c.496+44G>A (n.496+44G>A) c.529+44G>A (n.529+44G>A) c.403+44G>A (n.403+44G>A) n.605+44G>A | |
11 | g.17527180C= | CA1955187020 | USH1C | c.496+43G= (n.496+43G=) c.529+43G= (n.529+43G=) c.403+43G= (n.403+43G=) n.605+43G= | |
11 | g.17527180C>T | CA597668890 | USH1C | c.496+43G>A (n.496+43G>A) c.529+43G>A (n.529+43G>A) c.403+43G>A (n.403+43G>A) n.605+43G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527181T>A | CA2574769556 | USH1C | c.496+42A>T (n.496+42A>T) c.529+42A>T (n.529+42A>T) c.403+42A>T (n.403+42A>T) n.605+42A>T | |
11 | g.17527181T>C | CA5905020 | USH1C | c.496+42A>G (n.496+42A>G) c.529+42A>G (n.529+42A>G) c.403+42A>G (n.403+42A>G) n.605+42A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17527181T= | CA1955187021 | USH1C | c.496+42A= (n.496+42A=) c.529+42A= (n.529+42A=) c.403+42A= (n.403+42A=) n.605+42A= | |
11 | g.17527182C>A | CA2612677144 | USH1C | c.496+41G>T (n.496+41G>T) c.529+41G>T (n.529+41G>T) c.403+41G>T (n.403+41G>T) n.605+41G>T | gnomAD v4 |
11 | g.17527182C>T | CA654520833 | USH1C | c.496+41G>A (n.496+41G>A) c.529+41G>A (n.529+41G>A) c.403+41G>A (n.403+41G>A) n.605+41G>A | COSMIC |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCGCCCACCGTCATGGAGTACTGCCCTGCTC | CA935547516 | USH1C | c.496+41_496+42insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.496+41_496+42insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) c.529+41_529+42insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.529+41_529+42insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) c.403+41_403+42insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.403+41_403+42insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) n.605+41_605+42insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527183C>T | CA2790594274 | USH1C | c.496+40G>A (n.496+40G>A) c.529+40G>A (n.529+40G>A) c.403+40G>A (n.403+40G>A) n.605+40G>A | |
11 | g.17527184C>A | CA5905021 | USH1C | c.496+39G>T (n.496+39G>T) c.529+39G>T (n.529+39G>T) c.403+39G>T (n.403+39G>T) n.605+39G>T | dbSNP ExAC |
11 | g.17527184C= | CA1955187022 | USH1C | c.496+39G= (n.496+39G=) c.529+39G= (n.529+39G=) c.403+39G= (n.403+39G=) n.605+39G= | |
11 | g.17527185A= | CA1955187023 | USH1C | c.496+38T= (n.496+38T=) c.529+38T= (n.529+38T=) c.403+38T= (n.403+38T=) n.605+38T= | |
11 | g.17527185A>C | CA5905022 | USH1C | c.496+38T>G (n.496+38T>G) c.529+38T>G (n.529+38T>G) c.403+38T>G (n.403+38T>G) n.605+38T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17527185A>G | CA2612677147 | USH1C | c.496+38T>C (n.496+38T>C) c.529+38T>C (n.529+38T>C) c.403+38T>C (n.403+38T>C) n.605+38T>C | gnomAD v4 |
11 | g.17527185A>T | CA2790594275 | USH1C | c.496+38T>A (n.496+38T>A) c.529+38T>A (n.529+38T>A) c.403+38T>A (n.403+38T>A) n.605+38T>A | |
11 | g.17527194_17527195insGGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCCCCGTCATGG | CA2612677152 | USH1C | c.496+37_496+38insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACCCCATGACGG (n.496+37_496+38insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACCCCATGACGG) c.529+37_529+38insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACCCCATGACGG (n.529+37_529+38insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACCCCATGACGG) c.403+37_403+38insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACCCCATGACGG (n.403+37_403+38insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACCCCATGACGG) n.605+37_605+38insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACCCCATGACGG | gnomAD v4 |
11 | g.17527188_17527204del | CA2612677150 | USH1C | c.496+21_496+37del (n.496+21_496+37del) c.529+21_529+37del (n.529+21_529+37del) c.403+21_403+37del (n.403+21_403+37del) n.605+21_605+37del | gnomAD v4 |
11 | g.17527187_17527207del | CA2612677151 | USH1C | c.496+17_496+37del (n.496+17_496+37del) c.529+17_529+37del (n.529+17_529+37del) c.403+17_403+37del (n.403+17_403+37del) n.605+17_605+37del | gnomAD v4 |
11 | g.17527187C>A | CA2612677154 | USH1C | c.496+36G>T (n.496+36G>T) c.529+36G>T (n.529+36G>T) c.403+36G>T (n.403+36G>T) n.605+36G>T | gnomAD v4 |
11 | g.17527187C= | CA1955187024 | USH1C | c.496+36G= (n.496+36G=) c.529+36G= (n.529+36G=) c.403+36G= (n.403+36G=) n.605+36G= | |
11 | g.17527187C>T | CA674239604 | USH1C | c.496+36G>A (n.496+36G>A) c.529+36G>A (n.529+36G>A) c.403+36G>A (n.403+36G>A) n.605+36G>A | dbSNP gnomAD v4 |
11 | g.17527187_17527201delinsCGTCATGGAGTACTG | CA1955187025 | USH1C | c.496+22_496+36delinsCAGTACTCCATGACG (n.496+22_496+36delinsCAGTACTCCATGACG) c.529+22_529+36delinsCAGTACTCCATGACG (n.529+22_529+36delinsCAGTACTCCATGACG) c.403+22_403+36delinsCAGTACTCCATGACG (n.403+22_403+36delinsCAGTACTCCATGACG) n.605+22_605+36delinsCAGTACTCCATGACG | |
11 | g.17527188G>A | CA5905023 | USH1C | c.496+35C>T (n.496+35C>T) c.529+35C>T (n.529+35C>T) c.403+35C>T (n.403+35C>T) n.605+35C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527188G= | CA1955187026 | USH1C | c.496+35C= (n.496+35C=) c.529+35C= (n.529+35C=) c.403+35C= (n.403+35C=) n.605+35C= | |
11 | g.17527188_17527201del | CA218461581 | USH1C | c.496+22_496+35del (n.496+22_496+35del) c.529+22_529+35del (n.529+22_529+35del) c.403+22_403+35del (n.403+22_403+35del) n.605+22_605+35del | dbSNP |
11 | g.17527189T= | CA1955187027 | USH1C | c.496+34A= (n.496+34A=) c.529+34A= (n.529+34A=) c.403+34A= (n.403+34A=) n.605+34A= | |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCATCATGGAGTACTGCCCTGCTC | CA2612677156 | USH1C | c.496+34_496+35insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA (n.496+34_496+35insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA) c.529+34_529+35insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA (n.529+34_529+35insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA) c.403+34_403+35insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA (n.403+34_403+35insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA) n.605+34_605+35insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA | gnomAD v4 |
11 | g.17527190C>A | CA2580994989 | USH1C | c.496+33G>T (n.496+33G>T) c.529+33G>T (n.529+33G>T) c.403+33G>T (n.403+33G>T) n.605+33G>T | |
11 | g.17527190C= | CA5905024 | USH1C | c.496+33G= (n.496+33G=) c.529+33G= (n.529+33G=) c.403+33G= (n.403+33G=) n.605+33G= | |
11 | g.17527190C>G | CA1955187028 | USH1C | c.496+33G>C (n.496+33G>C) c.529+33G>C (n.529+33G>C) c.403+33G>C (n.403+33G>C) n.605+33G>C | dbSNP |
11 | g.17527190C>T | CA218461604 | USH1C | c.496+33G>A (n.496+33G>A) c.529+33G>A (n.529+33G>A) c.403+33G>A (n.403+33G>A) n.605+33G>A | dbSNP |
11 | g.17527190_17527191dup | CA674239610 | USH1C | c.496+32_496+33dup (n.496+32_496+33dup) c.529+32_529+33dup (n.529+32_529+33dup) c.403+32_403+33dup (n.403+32_403+33dup) n.605+32_605+33dup | ClinVar dbSNP |
11 | g.17527191A= | CA1955187029 | USH1C | c.496+32T= (n.496+32T=) c.529+32T= (n.529+32T=) c.403+32T= (n.403+32T=) n.605+32T= | |
11 | g.17527191A>C | CA2612677158 | USH1C | c.496+32T>G (n.496+32T>G) c.529+32T>G (n.529+32T>G) c.403+32T>G (n.403+32T>G) n.605+32T>G | gnomAD v4 |
11 | g.17527191A>G | CA218461628 | USH1C | c.496+32T>C (n.496+32T>C) c.529+32T>C (n.529+32T>C) c.403+32T>C (n.403+32T>C) n.605+32T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527191A>T | CA674239614 | USH1C | c.496+32T>A (n.496+32T>A) c.529+32T>A (n.529+32T>A) c.403+32T>A (n.403+32T>A) n.605+32T>A | dbSNP gnomAD v4 |
11 | g.17527192T>A | CA5905025 | USH1C | c.496+31A>T (n.496+31A>T) c.529+31A>T (n.529+31A>T) c.403+31A>T (n.403+31A>T) n.605+31A>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
11 | g.17527192T>C | CA935547520 | USH1C | c.496+31A>G (n.496+31A>G) c.529+31A>G (n.529+31A>G) c.403+31A>G (n.403+31A>G) n.605+31A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527192T>G | CA2612677161 | USH1C | c.496+31A>C (n.496+31A>C) c.529+31A>C (n.529+31A>C) c.403+31A>C (n.403+31A>C) n.605+31A>C | gnomAD v4 |
11 | g.17527192T= | CA1955187031 | USH1C | c.496+31A= (n.496+31A=) c.529+31A= (n.529+31A=) c.403+31A= (n.403+31A=) n.605+31A= | |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCGTGGAGTACTGCCCTGCTC | CA2612677162 | USH1C | c.496+31_496+32insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA (n.496+31_496+32insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA) c.529+31_529+32insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA (n.529+31_529+32insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA) c.403+31_403+32insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA (n.403+31_403+32insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA) n.605+31_605+32insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCCCCGTCGTGGAGTACTGCCCTGCTC | CA2831670215 | USH1C | c.496+31_496+32insCGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA (n.496+31_496+32insCGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA) c.529+31_529+32insCGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA (n.529+31_529+32insCGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA) c.403+31_403+32insCGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA (n.403+31_403+32insCGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA) n.605+31_605+32insCGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA | |
11 | g.17527192_17527211delinsTGGAGTACTGCCCTGCTCTG | CA1955187030 | USH1C | c.496+12_496+31delinsCAGAGCAGGGCAGTACTCCA (n.496+12_496+31delinsCAGAGCAGGGCAGTACTCCA) c.529+12_529+31delinsCAGAGCAGGGCAGTACTCCA (n.529+12_529+31delinsCAGAGCAGGGCAGTACTCCA) c.403+12_403+31delinsCAGAGCAGGGCAGTACTCCA (n.403+12_403+31delinsCAGAGCAGGGCAGTACTCCA) n.605+12_605+31delinsCAGAGCAGGGCAGTACTCCA | |
11 | g.17527193G>A | CA2612677164 | USH1C | c.496+30C>T (n.496+30C>T) c.529+30C>T (n.529+30C>T) c.403+30C>T (n.403+30C>T) n.605+30C>T | gnomAD v4 |
11 | g.17527193G>T | CA2612677165 | USH1C | c.496+30C>A (n.496+30C>A) c.529+30C>A (n.529+30C>A) c.403+30C>A (n.403+30C>A) n.605+30C>A | gnomAD v4 |
11 | g.17527194_17527212del | CA1955187032 | USH1C | c.496+12_496+30del (n.496+12_496+30del) c.529+12_529+30del (n.529+12_529+30del) c.403+12_403+30del (n.403+12_403+30del) n.605+12_605+30del | dbSNP |
11 | g.17527194G>A | CA597668894 | USH1C | c.496+29C>T (n.496+29C>T) c.529+29C>T (n.529+29C>T) c.403+29C>T (n.403+29C>T) n.605+29C>T | dbSNP gnomAD v2 |
11 | g.17527194G= | CA1955187033 | USH1C | c.496+29C= (n.496+29C=) c.529+29C= (n.529+29C=) c.403+29C= (n.403+29C=) n.605+29C= | |
11 | g.17527194G>T | CA2790594276 | USH1C | c.496+29C>A (n.496+29C>A) c.529+29C>A (n.529+29C>A) c.403+29C>A (n.403+29C>A) n.605+29C>A | |
11 | g.17527195A>T | CA2790594277 | USH1C | c.496+28T>A (n.496+28T>A) c.529+28T>A (n.529+28T>A) c.403+28T>A (n.403+28T>A) n.605+28T>A | |
11 | g.17527196G>A | CA5905026 | USH1C | c.496+27C>T (n.496+27C>T) c.529+27C>T (n.529+27C>T) c.403+27C>T (n.403+27C>T) n.605+27C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527196G= | CA1955187034 | USH1C | c.496+27C= (n.496+27C=) c.529+27C= (n.529+27C=) c.403+27C= (n.403+27C=) n.605+27C= | |
11 | g.17527197T>G | CA2612677168 | USH1C | c.496+26A>C (n.496+26A>C) c.529+26A>C (n.529+26A>C) c.403+26A>C (n.403+26A>C) n.605+26A>C | gnomAD v4 |
11 | g.17527198A>T | CA2574769557 | USH1C | c.496+25T>A (n.496+25T>A) c.529+25T>A (n.529+25T>A) c.403+25T>A (n.403+25T>A) n.605+25T>A | |
11 | g.17527199C>A | CA5905027 | USH1C | c.496+24G>T (n.496+24G>T) c.529+24G>T (n.529+24G>T) c.403+24G>T (n.403+24G>T) n.605+24G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17527199C= | CA1955187035 | USH1C | c.496+24G= (n.496+24G=) c.529+24G= (n.529+24G=) c.403+24G= (n.403+24G=) n.605+24G= | |
11 | g.17527199C>G | CA2790594278 | USH1C | c.496+24G>C (n.496+24G>C) c.529+24G>C (n.529+24G>C) c.403+24G>C (n.403+24G>C) n.605+24G>C | |
11 | g.17527199C>T | CA218461656 | USH1C | c.496+24G>A (n.496+24G>A) c.529+24G>A (n.529+24G>A) c.403+24G>A (n.403+24G>A) n.605+24G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527200T>C | CA5905028 | USH1C | c.496+23A>G (n.496+23A>G) c.529+23A>G (n.529+23A>G) c.403+23A>G (n.403+23A>G) n.605+23A>G | dbSNP ExAC gnomAD v2 |
11 | g.17527200T>G | CA935547533 | USH1C | c.496+23A>C (n.496+23A>C) c.529+23A>C (n.529+23A>C) c.403+23A>C (n.403+23A>C) n.605+23A>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527200T= | CA1955187036 | USH1C | c.496+23A= (n.496+23A=) c.529+23A= (n.529+23A=) c.403+23A= (n.403+23A=) n.605+23A= | |
11 | g.17527201G>A | CA597668902 | USH1C | c.496+22C>T (n.496+22C>T) c.529+22C>T (n.529+22C>T) c.403+22C>T (n.403+22C>T) n.605+22C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527201G= | CA1955187037 | USH1C | c.496+22C= (n.496+22C=) c.529+22C= (n.529+22C=) c.403+22C= (n.403+22C=) n.605+22C= | |
11 | g.17527201G>T | CA2574769558 | USH1C | c.496+22C>A (n.496+22C>A) c.529+22C>A (n.529+22C>A) c.403+22C>A (n.403+22C>A) n.605+22C>A | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACGGCCCTGCTC | CA2612677170 | USH1C | c.496+22_496+23insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC (n.496+22_496+23insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC) c.529+22_529+23insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC (n.529+22_529+23insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC) c.403+22_403+23insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC (n.403+22_403+23insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC) n.605+22_605+23insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC | gnomAD v4 |
11 | g.17527202C>A | CA142384 | USH1C | c.496+21G>T (n.496+21G>T) c.529+21G>T (n.529+21G>T) c.403+21G>T (n.403+21G>T) n.605+21G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527202C= | CA1955187038 | USH1C | c.496+21G= (n.496+21G=) c.529+21G= (n.529+21G=) c.403+21G= (n.403+21G=) n.605+21G= | |
11 | g.17527202C>T | CA2574769559 | USH1C | c.496+21G>A (n.496+21G>A) c.529+21G>A (n.529+21G>A) c.403+21G>A (n.403+21G>A) n.605+21G>A | |
11 | g.17527202_17527212delinsCCCTGCTCTGG | CA1955187039 | USH1C | c.496+11_496+21delinsCCAGAGCAGGG (n.496+11_496+21delinsCCAGAGCAGGG) c.529+11_529+21delinsCCAGAGCAGGG (n.529+11_529+21delinsCCAGAGCAGGG) c.403+11_403+21delinsCCAGAGCAGGG (n.403+11_403+21delinsCCAGAGCAGGG) n.605+11_605+21delinsCCAGAGCAGGG | |
11 | g.17527203C>A | CA2612677178 | USH1C | c.496+20G>T (n.496+20G>T) c.529+20G>T (n.529+20G>T) c.403+20G>T (n.403+20G>T) n.605+20G>T | ClinVar gnomAD v4 |
11 | g.17527203C= | CA1955187041 | USH1C | c.496+20G= (n.496+20G=) c.529+20G= (n.529+20G=) c.403+20G= (n.403+20G=) n.605+20G= | |
11 | g.17527203C>G | CA2739276221 | USH1C | c.496+20G>C (n.496+20G>C) c.529+20G>C (n.529+20G>C) c.403+20G>C (n.403+20G>C) n.605+20G>C | ClinVar |
11 | g.17527203C>T | CA597668905 | USH1C | c.496+20G>A (n.496+20G>A) c.529+20G>A (n.529+20G>A) c.403+20G>A (n.403+20G>A) n.605+20G>A | ClinVar dbSNP gnomAD v2 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTC | CA2612677177 | USH1C | c.496+20_496+21insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.496+20_496+21insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.529+20_529+21insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.529+20_529+21insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.403+20_403+21insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.403+20_403+21insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.605+20_605+21insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527206_17527215del | CA1955187040 | USH1C | c.496+11_496+20del (n.496+11_496+20del) c.529+11_529+20del (n.529+11_529+20del) c.403+11_403+20del (n.403+11_403+20del) n.605+11_605+20del | dbSNP |
11 | g.17527204C>T | CA2739276222 | USH1C | c.496+19G>A (n.496+19G>A) c.529+19G>A (n.529+19G>A) c.403+19G>A (n.403+19G>A) n.605+19G>A | ClinVar |