Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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 |
11 | g.17527205T>C | CA674239619 | USH1C | c.496+18A>G (n.496+18A>G) c.529+18A>G (n.529+18A>G) c.403+18A>G (n.403+18A>G) n.605+18A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527205T>G | CA2573146168 | USH1C | c.496+18A>C (n.496+18A>C) c.529+18A>C (n.529+18A>C) c.403+18A>C (n.403+18A>C) n.605+18A>C | ClinVar dbSNP |
11 | g.17527205T= | CA1955187042 | USH1C | c.496+18A= (n.496+18A=) c.529+18A= (n.529+18A=) c.403+18A= (n.403+18A=) n.605+18A= | |
11 | g.17527205_17527206del | CA597668911 | USH1C | c.496+17_496+18del (n.496+17_496+18del) c.529+17_529+18del (n.529+17_529+18del) c.403+17_403+18del (n.403+17_403+18del) n.605+17_605+18del | gnomAD v2 |
11 | g.17527205_17527208del | CA597668909 | USH1C | c.496+15_496+18del (n.496+15_496+18del) c.529+15_529+18del (n.529+15_529+18del) c.403+15_403+18del (n.403+15_403+18del) n.605+15_605+18del | gnomAD v2 |
11 | g.17527206G>A | CA5905030 | USH1C | c.496+17C>T (n.496+17C>T) c.529+17C>T (n.529+17C>T) c.403+17C>T (n.403+17C>T) n.605+17C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17527206G= | CA1955187043 | USH1C | c.496+17C= (n.496+17C=) c.529+17C= (n.529+17C=) c.403+17C= (n.403+17C=) n.605+17C= | |
11 | g.17527206G>T | CA5905029 | USH1C | c.496+17C>A (n.496+17C>A) c.529+17C>A (n.529+17C>A) c.403+17C>A (n.403+17C>A) n.605+17C>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTC | CA2573146169 | USH1C | c.496+16_496+17insGGAGGGCGGGGGAG (n.496+16_496+17insGGAGGGCGGGGGAG) c.529+16_529+17insGGAGGGCGGGGGAG (n.529+16_529+17insGGAGGGCGGGGGAG) c.403+16_403+17insGGAGGGCGGGGGAG (n.403+16_403+17insGGAGGGCGGGGGAG) n.605+16_605+17insGGAGGGCGGGGGAG | ClinVar dbSNP |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTC | CA2612677188 | USH1C | c.496+16_496+17insGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG (n.496+16_496+17insGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG) c.529+16_529+17insGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG (n.529+16_529+17insGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG) c.403+16_403+17insGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG (n.403+16_403+17insGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG) n.605+16_605+17insGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG | gnomAD v4 |
11 | g.17527208T>C | CA2580082783 | USH1C | c.496+15A>G (n.496+15A>G) c.529+15A>G (n.529+15A>G) c.403+15A>G (n.403+15A>G) n.605+15A>G | ClinVar |
11 | g.17527208T= | CA1955187044 | USH1C | c.496+15A= (n.496+15A=) c.529+15A= (n.529+15A=) c.403+15A= (n.403+15A=) n.605+15A= | |
11 | g.17527209C= | CA1955187045 | USH1C | c.496+14G= (n.496+14G=) c.529+14G= (n.529+14G=) c.403+14G= (n.403+14G=) n.605+14G= | |
11 | g.17527209C>T | CA2612677193 | USH1C | c.496+14G>A (n.496+14G>A) c.529+14G>A (n.529+14G>A) c.403+14G>A (n.403+14G>A) n.605+14G>A | gnomAD v4 |
11 | g.17527209_17527210insCC | CA2739276223 | USH1C | c.496+14_496+15insGG (n.496+14_496+15insGG) c.529+14_529+15insGG (n.529+14_529+15insGG) c.403+14_403+15insGG (n.403+14_403+15insGG) n.605+14_605+15insGG | ClinVar |
11 | g.17527209_17527210insCCC | CA597668914 | USH1C | c.496+14_496+15insGGG (n.496+14_496+15insGGG) c.529+14_529+15insGGG (n.529+14_529+15insGGG) c.403+14_403+15insGGG (n.403+14_403+15insGGG) n.605+14_605+15insGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTAC | CA597668915 | USH1C | c.496+14_496+15insTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.496+14_496+15insTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) c.529+14_529+15insTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.529+14_529+15insTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) c.403+14_403+15insTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.403+14_403+15insTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) n.605+14_605+15insTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCC | CA2612677196 | USH1C | c.496+14_496+15insGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.496+14_496+15insGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) c.529+14_529+15insGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.529+14_529+15insGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) c.403+14_403+15insGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.403+14_403+15insGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) n.605+14_605+15insGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCC | CA2612677195 | USH1C | c.496+14_496+15insGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.496+14_496+15insGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) c.529+14_529+15insGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.529+14_529+15insGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) c.403+14_403+15insGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.403+14_403+15insGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) n.605+14_605+15insGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCAC | CA2612677194 | USH1C | c.496+14_496+15insTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.496+14_496+15insTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) c.529+14_529+15insTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.529+14_529+15insTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) c.403+14_403+15insTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.403+14_403+15insTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) n.605+14_605+15insTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG | gnomAD v4 |
11 | g.17527209dup | CA918828314 | USH1C | c.496+14dup (n.496+14dup) c.529+14dup (n.529+14dup) c.403+14dup (n.403+14dup) n.605+14dup | dbSNP |
11 | g.17527209_17527211delinsCTG | CA1955187046 | USH1C | c.496+12_496+14delinsCAG (n.496+12_496+14delinsCAG) c.529+12_529+14delinsCAG (n.529+12_529+14delinsCAG) c.403+12_403+14delinsCAG (n.403+12_403+14delinsCAG) n.605+12_605+14delinsCAG | |
11 | g.17527209_17527212delinsCTGG | CA1955187047 | USH1C | c.496+11_496+14delinsCCAG (n.496+11_496+14delinsCCAG) c.529+11_529+14delinsCCAG (n.529+11_529+14delinsCCAG) c.403+11_403+14delinsCCAG (n.403+11_403+14delinsCCAG) n.605+11_605+14delinsCCAG | |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCG | CA2612677204 | USH1C | c.496+13_496+14insCGACGGTGGGAGGGAGGGAGGGCGGGG (n.496+13_496+14insCGACGGTGGGAGGGAGGGAGGGCGGGG) c.529+13_529+14insCGACGGTGGGAGGGAGGGAGGGCGGGG (n.529+13_529+14insCGACGGTGGGAGGGAGGGAGGGCGGGG) c.403+13_403+14insCGACGGTGGGAGGGAGGGAGGGCGGGG (n.403+13_403+14insCGACGGTGGGAGGGAGGGAGGGCGGGG) n.605+13_605+14insCGACGGTGGGAGGGAGGGAGGGCGGGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCA | CA597668920 | USH1C | c.496+13_496+14insTGACGGTGGGAGGGAGGGAGGGCGGGG (n.496+13_496+14insTGACGGTGGGAGGGAGGGAGGGCGGGG) c.529+13_529+14insTGACGGTGGGAGGGAGGGAGGGCGGGG (n.529+13_529+14insTGACGGTGGGAGGGAGGGAGGGCGGGG) c.403+13_403+14insTGACGGTGGGAGGGAGGGAGGGCGGGG (n.403+13_403+14insTGACGGTGGGAGGGAGGGAGGGCGGGG) n.605+13_605+14insTGACGGTGGGAGGGAGGGAGGGCGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527210T>C | CA142383 | USH1C | c.496+13A>G (n.496+13A>G) c.529+13A>G (n.529+13A>G) c.403+13A>G (n.403+13A>G) n.605+13A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527210T>G | CA2739276224 | USH1C | c.496+13A>C (n.496+13A>C) c.529+13A>C (n.529+13A>C) c.403+13A>C (n.403+13A>C) n.605+13A>C | ClinVar |
11 | g.17527210T= | CA1955187048 | USH1C | c.496+13A= (n.496+13A=) c.529+13A= (n.529+13A=) c.403+13A= (n.403+13A=) n.605+13A= | |
11 | g.17527210_17527211del | CA597668919 | USH1C | c.496+12_496+13del (n.496+12_496+13del) c.529+12_529+13del (n.529+12_529+13del) c.403+12_403+13del (n.403+12_403+13del) n.605+12_605+13del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527210_17527212del | CA597668923 | USH1C | c.496+11_496+13del (n.496+11_496+13del) c.529+11_529+13del (n.529+11_529+13del) c.403+11_403+13del (n.403+11_403+13del) n.605+11_605+13del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527211G>C | CA2499220844 | USH1C | c.496+12C>G (n.496+12C>G) c.529+12C>G (n.529+12C>G) c.403+12C>G (n.403+12C>G) n.605+12C>G | ClinVar dbSNP |
11 | g.17527211G= | CA1955187049 | USH1C | c.496+12C= (n.496+12C=) c.529+12C= (n.529+12C=) c.403+12C= (n.403+12C=) n.605+12C= | |
11 | g.17527211_17527212insCCCC | CA597668926 | USH1C | c.496+11_496+12insGGGG (n.496+11_496+12insGGGG) c.529+11_529+12insGGGG (n.529+11_529+12insGGGG) c.403+11_403+12insGGGG (n.403+11_403+12insGGGG) n.605+11_605+12insGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527212G>C | CA597668928 | USH1C | c.496+11C>G (n.496+11C>G) c.529+11C>G (n.529+11C>G) c.403+11C>G (n.403+11C>G) n.605+11C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527212G= | CA1955187050 | USH1C | c.496+11C= (n.496+11C=) c.529+11C= (n.529+11C=) c.403+11C= (n.403+11C=) n.605+11C= | |
11 | g.17527212_17527213insAGTACTGACCTGCTCCCCCG | CA2612677207 | USH1C | c.496+11_496+12insGGGGGAGCAGGTCAGTACTC (n.496+11_496+12insGGGGGAGCAGGTCAGTACTC) c.529+11_529+12insGGGGGAGCAGGTCAGTACTC (n.529+11_529+12insGGGGGAGCAGGTCAGTACTC) c.403+11_403+12insGGGGGAGCAGGTCAGTACTC (n.403+11_403+12insGGGGGAGCAGGTCAGTACTC) n.605+11_605+12insGGGGGAGCAGGTCAGTACTC | gnomAD v4 |
11 | g.17527212_17527213insAGTACTGCCCTGCTCCCCCG | CA2502532565 | USH1C | c.496+11_496+12insGGGGGAGCAGGGCAGTACTC (n.496+11_496+12insGGGGGAGCAGGGCAGTACTC) c.529+11_529+12insGGGGGAGCAGGGCAGTACTC (n.529+11_529+12insGGGGGAGCAGGGCAGTACTC) c.403+11_403+12insGGGGGAGCAGGGCAGTACTC (n.403+11_403+12insGGGGGAGCAGGGCAGTACTC) n.605+11_605+12insGGGGGAGCAGGGCAGTACTC | |
11 | g.17527212_17527213insAGTACTGA | CA2612677212 | USH1C | c.496+10_496+11insTCAGTACT (n.496+10_496+11insTCAGTACT) c.529+10_529+11insTCAGTACT (n.529+10_529+11insTCAGTACT) c.403+10_403+11insTCAGTACT (n.403+10_403+11insTCAGTACT) n.605+10_605+11insTCAGTACT | gnomAD v4 |
11 | g.17527212_17527213insAGTACTGC | CA935547579 | USH1C | c.496+10_496+11insGCAGTACT (n.496+10_496+11insGCAGTACT) c.529+10_529+11insGCAGTACT (n.529+10_529+11insGCAGTACT) c.403+10_403+11insGCAGTACT (n.403+10_403+11insGCAGTACT) n.605+10_605+11insGCAGTACT | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527212_17527213insAGTACTGACCTGCTCCCCCGC | CA2612677215 | USH1C | c.496+10_496+11insGCGGGGGAGCAGGTCAGTACT (n.496+10_496+11insGCGGGGGAGCAGGTCAGTACT) c.529+10_529+11insGCGGGGGAGCAGGTCAGTACT (n.529+10_529+11insGCGGGGGAGCAGGTCAGTACT) c.403+10_403+11insGCGGGGGAGCAGGTCAGTACT (n.403+10_403+11insGCGGGGGAGCAGGTCAGTACT) n.605+10_605+11insGCGGGGGAGCAGGTCAGTACT | gnomAD v4 |
11 | g.17527212_17527213insAGTACTGCCCTGCTCCCCCGC | CA2612677218 | USH1C | c.496+10_496+11insGCGGGGGAGCAGGGCAGTACT (n.496+10_496+11insGCGGGGGAGCAGGGCAGTACT) c.529+10_529+11insGCGGGGGAGCAGGGCAGTACT (n.529+10_529+11insGCGGGGGAGCAGGGCAGTACT) c.403+10_403+11insGCGGGGGAGCAGGGCAGTACT (n.403+10_403+11insGCGGGGGAGCAGGGCAGTACT) n.605+10_605+11insGCGGGGGAGCAGGGCAGTACT | gnomAD v4 |
11 | g.17527213C>T | CA2574769562 | USH1C | c.496+10G>A (n.496+10G>A) c.529+10G>A (n.529+10G>A) c.403+10G>A (n.403+10G>A) n.605+10G>A | |
11 | g.17527215_17527216del | CA2574769563 | USH1C | c.496+8_496+9del (n.496+8_496+9del) c.529+8_529+9del (n.529+8_529+9del) c.403+8_403+9del (n.403+8_403+9del) n.605+8_605+9del | |
11 | g.17527215T>C | CA597668929 | USH1C | c.496+8A>G (n.496+8A>G) c.529+8A>G (n.529+8A>G) c.403+8A>G (n.403+8A>G) n.605+8A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527215T= | CA1955187051 | USH1C | c.496+8A= (n.496+8A=) c.529+8A= (n.529+8A=) c.403+8A= (n.403+8A=) n.605+8A= | |
11 | g.17527215_17527216insGCTCCCC | CA2612677224 | USH1C | c.496+7_496+8insGGGGAGC (n.496+7_496+8insGGGGAGC) c.529+7_529+8insGGGGAGC (n.529+7_529+8insGGGGAGC) c.403+7_403+8insGGGGAGC (n.403+7_403+8insGGGGAGC) n.605+7_605+8insGGGGAGC | gnomAD v4 |
11 | g.17527216C>A | CA2573146170 | USH1C | c.496+7G>T (n.496+7G>T) c.529+7G>T (n.529+7G>T) c.403+7G>T (n.403+7G>T) n.605+7G>T | ClinVar dbSNP |
11 | g.17527217A= | CA1955187052 | USH1C | c.496+6T= (n.496+6T=) c.529+6T= (n.529+6T=) c.403+6T= (n.403+6T=) n.605+6T= | |
11 | g.17527217A>C | CA597668931 | USH1C | c.496+6T>G (n.496+6T>G) c.529+6T>G (n.529+6T>G) c.403+6T>G (n.403+6T>G) n.605+6T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527217A>G | CA597668933 | USH1C | c.496+6T>C (n.496+6T>C) c.529+6T>C (n.529+6T>C) c.403+6T>C (n.403+6T>C) n.605+6T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527218C>G | CA2612677232 | USH1C | c.496+5G>C (n.496+5G>C) c.529+5G>C (n.529+5G>C) c.403+5G>C (n.403+5G>C) n.605+5G>C | gnomAD v4 |
11 | g.17527218_17527223delinsCTCACG | CA1955187053 | USH1C | c.496_496+5delinsCGTGAG c.529_529+5delinsCGTGAG c.403_403+5delinsCGTGAG n.605_605+5delinsCGTGAG | |
11 | g.17527219T>A | CA935547585 | USH1C | c.496+4A>T (n.496+4A>T) c.529+4A>T (n.529+4A>T) c.403+4A>T (n.403+4A>T) n.605+4A>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527219T>C | CA597668937 | USH1C | c.496+4A>G (n.496+4A>G) c.529+4A>G (n.529+4A>G) c.403+4A>G (n.403+4A>G) n.605+4A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527219T= | CA1955187054 | USH1C | c.496+4A= (n.496+4A=) c.529+4A= (n.529+4A=) c.403+4A= (n.403+4A=) n.605+4A= | |
11 | g.17527221_17527225del | CA597668935 | USH1C | c.496_496+4del c.529_529+4del c.403_403+4del n.605_605+4del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527220C>G | CA2503907286 | USH1C | c.496+3G>C (n.496+3G>C) c.529+3G>C (n.529+3G>C) c.403+3G>C (n.403+3G>C) n.605+3G>C | gnomAD v4 |
11 | g.17527220C>T | CA2574769565 | USH1C | c.496+3G>A (n.496+3G>A) c.529+3G>A (n.529+3G>A) c.403+3G>A (n.403+3G>A) n.605+3G>A | |
11 | g.17527221A= | CA1955187055 | USH1C | c.496+2T= (n.496+2T=) c.529+2T= (n.529+2T=) c.403+2T= (n.403+2T=) n.605+2T= | |
11 | g.17527221A>C | CA379795117 | USH1C | c.496+2T>G (n.496+2T>G) c.529+2T>G (n.529+2T>G) c.403+2T>G (n.403+2T>G) n.605+2T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527221A>G | CA379795119 | USH1C | c.496+2T>C (n.496+2T>C) c.529+2T>C (n.529+2T>C) c.403+2T>C (n.403+2T>C) n.605+2T>C | |
11 | g.17527221A>T | CA379795121 | USH1C | c.496+2T>A (n.496+2T>A) c.529+2T>A (n.529+2T>A) c.403+2T>A (n.403+2T>A) n.605+2T>A | ClinVar |
11 | g.17527222C>A | CA5905032 | USH1C | c.496+1G>T (n.496+1G>T) c.529+1G>T (n.529+1G>T) c.403+1G>T (n.403+1G>T) n.605+1G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527222C= | CA1955187056 | USH1C | c.496+1G= (n.496+1G=) c.529+1G= (n.529+1G=) c.403+1G= (n.403+1G=) n.605+1G= | |
11 | g.17527222C>G | CA5905033 | USH1C | c.496+1G>C (n.496+1G>C) c.529+1G>C (n.529+1G>C) c.403+1G>C (n.403+1G>C) n.605+1G>C | dbSNP ExAC gnomAD v2 |
11 | g.17527222C>T | CA5905031 | USH1C | c.496+1G>A (n.496+1G>A) c.529+1G>A (n.529+1G>A) c.403+1G>A (n.403+1G>A) n.605+1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527223G>A | CA5905034 | USH1C | c.496C>T (p.His166Tyr) c.529C>T (p.His177Tyr) c.403C>T (p.His135Tyr) n.605C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.17527223G>C | CA379795126 | USH1C | c.496C>G (p.His166Asp) c.529C>G (p.His177Asp) c.403C>G (p.His135Asp) n.605C>G | |
11 | g.17527223G= | CA1955187057 | USH1C | c.496C= (p.His166=) c.529C= (p.His177=) c.403C= (p.His135=) n.605C= | |
11 | g.17527223G>T | CA379795128 | USH1C | c.496C>A (p.His166Asn) c.529C>A (p.His177Asn) c.403C>A (p.His135Asn) n.605C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527224T>A | CA379795129 | USH1C | c.495A>T (p.Arg165Ser) c.528A>T (p.Arg176Ser) c.402A>T (p.Arg134Ser) n.604A>T | |
11 | g.17527224T>C | CA473302336 | USH1C | c.495A>G (p.Arg165=) c.528A>G (p.Arg176=) c.402A>G (p.Arg134=) n.604A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527224T>G | CA379795130 | USH1C | c.495A>C (p.Arg165Ser) c.528A>C (p.Arg176Ser) c.402A>C (p.Arg134Ser) n.604A>C | |
11 | g.17527224T= | CA1955187058 | USH1C | c.495A= (p.Arg165=) c.528A= (p.Arg176=) c.402A= (p.Arg134=) n.604A= | |
11 | g.17527225C>A | CA379795138 | USH1C | c.494G>T (p.Arg165Ile) c.527G>T (p.Arg176Ile) c.401G>T (p.Arg134Ile) n.603G>T | |
11 | g.17527225C>G | CA379795136 | USH1C | c.494G>C (p.Arg165Thr) c.527G>C (p.Arg176Thr) c.401G>C (p.Arg134Thr) n.603G>C | gnomAD v4 |
11 | g.17527225C>T | CA379795134 | USH1C | c.494G>A (p.Arg165Lys) c.527G>A (p.Arg176Lys) c.401G>A (p.Arg134Lys) n.603G>A | |
11 | g.17527226T>A | CA379795141 | USH1C | c.493A>T (p.Arg165Ter) c.526A>T (p.Arg176Ter) c.400A>T (p.Arg134Ter) n.602A>T | |
11 | g.17527226T>C | CA379795139 | USH1C | c.493A>G (p.Arg165Gly) c.526A>G (p.Arg176Gly) c.400A>G (p.Arg134Gly) n.602A>G | |
11 | g.17527226T>G | CA473302341 | USH1C | c.493A>C (p.Arg165=) c.526A>C (p.Arg176=) c.400A>C (p.Arg134=) n.602A>C | |
11 | g.17527226_17527228delinsTCA | CA1955187059 | USH1C | c.491_493delinsTGA (p.Val164=) c.524_526delinsTGA (p.Val175=) c.398_400delinsTGA (p.Val133=) n.600_602delinsTGA | |
11 | g.17527227C>A | CA473302343 | USH1C | c.492G>T (p.Val164=) c.525G>T (p.Val175=) c.399G>T (p.Val133=) n.601G>T | |
11 | g.17527227C= | CA1955187060 | USH1C | c.492G= (p.Val164=) c.525G= (p.Val175=) c.399G= (p.Val133=) n.601G= | |
11 | g.17527227C>G | CA473302345 | USH1C | c.492G>C (p.Val164=) c.525G>C (p.Val175=) c.399G>C (p.Val133=) n.601G>C | |
11 | g.17527227C>T | CA473302348 | USH1C | c.492G>A (p.Val164=) c.525G>A (p.Val175=) c.399G>A (p.Val133=) n.601G>A | ClinVar dbSNP COSMIC COSMIC |
11 | g.17527228_17527229del | CA916083238 | USH1C | c.491_492del (p.Val164GlufsTer13) c.524_525del (p.Val175GlufsTer13) c.398_399del (p.Val133GlufsTer13) n.600_601del | ClinVar dbSNP gnomAD v4 |
11 | g.17527228A>C | CA379795148 | USH1C | c.491T>G (p.Val164Gly) c.524T>G (p.Val175Gly) c.398T>G (p.Val133Gly) n.600T>G | gnomAD v4 |
11 | g.17527228A>G | CA379795144 | USH1C | c.491T>C (p.Val164Ala) c.524T>C (p.Val175Ala) c.398T>C (p.Val133Ala) n.600T>C | |
11 | g.17527228A>T | CA379795146 | USH1C | c.491T>A (p.Val164Glu) c.524T>A (p.Val175Glu) c.398T>A (p.Val133Glu) n.600T>A | |
11 | g.17527229C>A | CA379795151 | USH1C | c.490G>T (p.Val164Leu) c.523G>T (p.Val175Leu) c.397G>T (p.Val133Leu) n.599G>T | gnomAD v4 |
11 | g.17527229C>G | CA379795153 | USH1C | c.490G>C (p.Val164Leu) c.523G>C (p.Val175Leu) c.397G>C (p.Val133Leu) n.599G>C | |
11 | g.17527229C>T | CA379795154 | USH1C | c.490G>A (p.Val164Met) c.523G>A (p.Val175Met) c.397G>A (p.Val133Met) n.599G>A | gnomAD v4 |
11 | g.17527230T>A | CA379795155 | USH1C | c.489A>T (p.Lys163Asn) c.522A>T (p.Lys174Asn) c.396A>T (p.Lys132Asn) n.598A>T | |
11 | g.17527230T>C | CA5905035 | USH1C | c.489A>G (p.Lys163=) c.522A>G (p.Lys174=) c.396A>G (p.Lys132=) n.598A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17527230T>G | CA379795156 | USH1C | c.489A>C (p.Lys163Asn) c.522A>C (p.Lys174Asn) c.396A>C (p.Lys132Asn) n.598A>C | |
11 | g.17527230T= | CA1955187061 | USH1C | c.489A= (p.Lys163=) c.522A= (p.Lys174=) c.396A= (p.Lys132=) n.598A= | |
11 | g.17527231T>A | CA379795157 | USH1C | c.488A>T (p.Lys163Ile) c.521A>T (p.Lys174Ile) c.395A>T (p.Lys132Ile) n.597A>T | |
11 | g.17527231T>C | CA379795159 | USH1C | c.488A>G (p.Lys163Arg) c.521A>G (p.Lys174Arg) c.395A>G (p.Lys132Arg) n.597A>G | |
11 | g.17527231T>G | CA379795158 | USH1C | c.488A>C (p.Lys163Thr) c.521A>C (p.Lys174Thr) c.395A>C (p.Lys132Thr) n.597A>C | |
11 | g.17527232T>A | CA379795160 | USH1C | c.487A>T (p.Lys163Ter) c.520A>T (p.Lys174Ter) c.394A>T (p.Lys132Ter) n.596A>T | |
11 | g.17527232T>C | CA379795161 | USH1C | c.487A>G (p.Lys163Glu) c.520A>G (p.Lys174Glu) c.394A>G (p.Lys132Glu) n.596A>G | |
11 | g.17527232T>G | CA379795162 | USH1C | c.487A>C (p.Lys163Gln) c.520A>C (p.Lys174Gln) c.394A>C (p.Lys132Gln) n.596A>C | gnomAD v4 |
11 | g.17527233G>A | CA473302354 | USH1C | c.486C>T (p.Ile162=) c.519C>T (p.Ile173=) c.393C>T (p.Ile131=) n.595C>T | ClinVar |
11 | g.17527233G>C | CA379795163 | USH1C | c.486C>G (p.Ile162Met) c.519C>G (p.Ile173Met) c.393C>G (p.Ile131Met) n.595C>G | |
11 | g.17527233G>T | CA473302359 | USH1C | c.486C>A (p.Ile162=) c.519C>A (p.Ile173=) c.393C>A (p.Ile131=) n.595C>A | |
11 | g.17527234A>C | CA379795166 | USH1C | c.485T>G (p.Ile162Ser) c.518T>G (p.Ile173Ser) c.392T>G (p.Ile131Ser) n.594T>G | |
11 | g.17527234A>G | CA379795164 | USH1C | c.485T>C (p.Ile162Thr) c.518T>C (p.Ile173Thr) c.392T>C (p.Ile131Thr) n.594T>C | |
11 | g.17527234A>T | CA379795165 | USH1C | c.485T>A (p.Ile162Asn) c.518T>A (p.Ile173Asn) c.392T>A (p.Ile131Asn) n.594T>A | |
11 | g.17527235T>A | CA379795167 | USH1C | c.484A>T (p.Ile162Phe) c.517A>T (p.Ile173Phe) c.391A>T (p.Ile131Phe) n.593A>T | gnomAD v4 |
11 | g.17527235T>C | CA379795168 | USH1C | c.484A>G (p.Ile162Val) c.517A>G (p.Ile173Val) c.391A>G (p.Ile131Val) n.593A>G | gnomAD v4 |
11 | g.17527235T>G | CA379795169 | USH1C | c.484A>C (p.Ile162Leu) c.517A>C (p.Ile173Leu) c.391A>C (p.Ile131Leu) n.593A>C | |
11 | g.17527236G>A | CA473302371 | USH1C | c.483C>T (p.Ser161=) c.516C>T (p.Ser172=) c.390C>T (p.Ser130=) n.592C>T | |
11 | g.17527236G>C | CA473302366 | USH1C | c.483C>G (p.Ser161=) c.516C>G (p.Ser172=) c.390C>G (p.Ser130=) n.592C>G | |
11 | g.17527236G>T | CA473302368 | USH1C | c.483C>A (p.Ser161=) c.516C>A (p.Ser172=) c.390C>A (p.Ser130=) n.592C>A | |
11 | g.17527237G>A | CA379795170 | USH1C | c.482C>T (p.Ser161Phe) c.515C>T (p.Ser172Phe) c.389C>T (p.Ser130Phe) n.591C>T | |
11 | g.17527237G>C | CA379795171 | USH1C | c.482C>G (p.Ser161Cys) c.515C>G (p.Ser172Cys) c.389C>G (p.Ser130Cys) n.591C>G | |
11 | g.17527237G>T | CA379795172 | USH1C | c.482C>A (p.Ser161Tyr) c.515C>A (p.Ser172Tyr) c.389C>A (p.Ser130Tyr) n.591C>A | |
11 | g.17527237_17527239delinsGAC | CA1955187062 | USH1C | c.480_482delinsGTC (p.Val160=) c.513_515delinsGTC (p.Val171=) c.387_389delinsGTC (p.Val129=) n.589_591delinsGTC | |
11 | g.17527238A= | CA1955187064 | USH1C | c.481T= (p.Ser161=) c.514T= (p.Ser172=) c.388T= (p.Ser130=) n.590T= | |
11 | g.17527238A>C | CA379795173 | USH1C | c.481T>G (p.Ser161Ala) c.514T>G (p.Ser172Ala) c.388T>G (p.Ser130Ala) n.590T>G | |
11 | g.17527238A>G | CA379795174 | USH1C | c.481T>C (p.Ser161Pro) c.514T>C (p.Ser172Pro) c.388T>C (p.Ser130Pro) n.590T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527238A>T | CA379795175 | USH1C | c.481T>A (p.Ser161Thr) c.514T>A (p.Ser172Thr) c.388T>A (p.Ser130Thr) n.590T>A | |
11 | g.17527241_17527242del | CA1955187063 | USH1C | c.480_481del (p.Ser161HisfsTer16) c.513_514del (p.Ser172HisfsTer16) c.387_388del (p.Ser130HisfsTer16) n.589_590del | ClinVar dbSNP gnomAD v4 |
11 | g.17527239C>A | CA473302381 | USH1C | c.480G>T (p.Val160=) c.513G>T (p.Val171=) c.387G>T (p.Val129=) n.589G>T | |
11 | g.17527239C= | CA1955187065 | USH1C | c.480G= (p.Val160=) c.513G= (p.Val171=) c.387G= (p.Val129=) n.589G= | |
11 | g.17527239C>G | CA473302383 | USH1C | c.480G>C (p.Val160=) c.513G>C (p.Val171=) c.387G>C (p.Val129=) n.589G>C | gnomAD v4 |
11 | g.17527239C>T | CA5905036 | USH1C | c.480G>A (p.Val160=) c.513G>A (p.Val171=) c.387G>A (p.Val129=) n.589G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527240A= | CA1955187066 | USH1C | c.479T= (p.Val160=) c.512T= (p.Val171=) c.386T= (p.Val129=) n.588T= | |
11 | g.17527240A>C | CA379795176 | USH1C | c.479T>G (p.Val160Gly) c.512T>G (p.Val171Gly) c.386T>G (p.Val129Gly) n.588T>G | |
11 | g.17527240A>G | CA379795177 | USH1C | c.479T>C (p.Val160Ala) c.512T>C (p.Val171Ala) c.386T>C (p.Val129Ala) n.588T>C | |
11 | g.17527240A>T | CA379795178 | USH1C | c.479T>A (p.Val160Glu) c.512T>A (p.Val171Glu) c.386T>A (p.Val129Glu) n.588T>A | |
11 | g.17527241C>A | CA379795179 | USH1C | c.478G>T (p.Val160Leu) c.511G>T (p.Val171Leu) c.385G>T (p.Val129Leu) n.587G>T | |
11 | g.17527241C= | CA1955187067 | USH1C | c.478G= (p.Val160=) c.511G= (p.Val171=) c.385G= (p.Val129=) n.587G= | |
11 | g.17527241C>G | CA379795181 | USH1C | c.478G>C (p.Val160Leu) c.511G>C (p.Val171Leu) c.385G>C (p.Val129Leu) n.587G>C | |
11 | g.17527241C>T | CA379795180 | USH1C | c.478G>A (p.Val160Met) c.511G>A (p.Val171Met) c.385G>A (p.Val129Met) n.587G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527241_17527242insTTTCATGGACTC | CA1955187068 | USH1C | c.478_479insAGTCCATGAAAG (p.Thr159_Val160insGluSerMetLys) c.511_512insAGTCCATGAAAG (p.Thr170_Val171insGluSerMetLys) c.385_386insAGTCCATGAAAG (p.Thr128_Val129insGluSerMetLys) n.587_588insAGTCCATGAAAG | dbSNP gnomAD v4 |
11 | g.17527242A= | CA1955187069 | USH1C | c.477T= (p.Thr159=) c.510T= (p.Thr170=) c.384T= (p.Thr128=) n.586T= | |
11 | g.17527242A>C | CA473302391 | USH1C | c.477T>G (p.Thr159=) c.510T>G (p.Thr170=) c.384T>G (p.Thr128=) n.586T>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527242A>G | CA473302386 | USH1C | c.477T>C (p.Thr159=) c.510T>C (p.Thr170=) c.384T>C (p.Thr128=) n.586T>C | gnomAD v4 |
11 | g.17527242A>T | CA473302390 | USH1C | c.477T>A (p.Thr159=) c.510T>A (p.Thr170=) c.384T>A (p.Thr128=) n.586T>A | |
11 | g.17527243G>A | CA379795182 | USH1C | c.476C>T (p.Thr159Ile) c.509C>T (p.Thr170Ile) c.383C>T (p.Thr128Ile) n.585C>T | gnomAD v4 |
11 | g.17527243G>C | CA379795183 | USH1C | c.476C>G (p.Thr159Ser) c.509C>G (p.Thr170Ser) c.383C>G (p.Thr128Ser) n.585C>G | dbSNP gnomAD v4 |
11 | g.17527243G= | CA1955187070 | USH1C | c.476C= (p.Thr159=) c.509C= (p.Thr170=) c.383C= (p.Thr128=) n.585C= | |
11 | g.17527243G>T | CA379795184 | USH1C | c.476C>A (p.Thr159Asn) c.509C>A (p.Thr170Asn) c.383C>A (p.Thr128Asn) n.585C>A | |
11 | g.17527244T>A | CA379795185 | USH1C | c.475A>T (p.Thr159Ser) c.508A>T (p.Thr170Ser) c.382A>T (p.Thr128Ser) n.584A>T | |
11 | g.17527244T>C | CA379795186 | USH1C | c.475A>G (p.Thr159Ala) c.508A>G (p.Thr170Ala) c.382A>G (p.Thr128Ala) n.584A>G | |
11 | g.17527244T>G | CA379795187 | USH1C | c.475A>C (p.Thr159Pro) c.508A>C (p.Thr170Pro) c.382A>C (p.Thr128Pro) n.584A>C | |
11 | g.17527245T>A | CA5905037 | USH1C | c.474A>T (p.Lys158Asn) c.507A>T (p.Lys169Asn) c.381A>T (p.Lys127Asn) n.583A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17527245T>C | CA473302392 | USH1C | c.474A>G (p.Lys158=) c.507A>G (p.Lys169=) c.381A>G (p.Lys127=) n.583A>G | |
11 | g.17527245T>G | CA379795188 | USH1C | c.474A>C (p.Lys158Asn) c.507A>C (p.Lys169Asn) c.381A>C (p.Lys127Asn) n.583A>C | |
11 | g.17527245T= | CA1955187071 | USH1C | c.474A= (p.Lys158=) c.507A= (p.Lys169=) c.381A= (p.Lys127=) n.583A= | |
11 | g.17527246T>A | CA379795189 | USH1C | c.473A>T (p.Lys158Ile) c.506A>T (p.Lys169Ile) c.380A>T (p.Lys127Ile) n.582A>T | |
11 | g.17527246T>C | CA379795190 | USH1C | c.473A>G (p.Lys158Arg) c.506A>G (p.Lys169Arg) c.380A>G (p.Lys127Arg) n.582A>G | |
11 | g.17527246T>G | CA379795191 | USH1C | c.473A>C (p.Lys158Thr) c.506A>C (p.Lys169Thr) c.380A>C (p.Lys127Thr) n.582A>C | gnomAD v4 |
11 | g.17527247T>A | CA379795192 | USH1C | c.472A>T (p.Lys158Ter) c.505A>T (p.Lys169Ter) c.379A>T (p.Lys127Ter) n.581A>T | |
11 | g.17527247T>C | CA379795193 | USH1C | c.472A>G (p.Lys158Glu) c.505A>G (p.Lys169Glu) c.379A>G (p.Lys127Glu) n.581A>G | COSMIC COSMIC |
11 | g.17527247T>G | CA379795194 | USH1C | c.472A>C (p.Lys158Gln) c.505A>C (p.Lys169Gln) c.379A>C (p.Lys127Gln) n.581A>C | |
11 | g.17527248C>A | CA379795195 | USH1C | c.471G>T (p.Lys157Asn) c.504G>T (p.Lys168Asn) c.378G>T (p.Lys126Asn) n.580G>T | |
11 | g.17527248C>G | CA379795196 | USH1C | c.471G>C (p.Lys157Asn) c.504G>C (p.Lys168Asn) c.378G>C (p.Lys126Asn) n.580G>C | |
11 | g.17527248C>T | CA473302397 | USH1C | c.471G>A (p.Lys157=) c.504G>A (p.Lys168=) c.378G>A (p.Lys126=) n.580G>A | ClinVar dbSNP |
11 | g.17527249T>A | CA379795197 | USH1C | c.470A>T (p.Lys157Met) c.503A>T (p.Lys168Met) c.377A>T (p.Lys126Met) n.579A>T | |
11 | g.17527249T>C | CA379795198 | USH1C | c.470A>G (p.Lys157Arg) c.503A>G (p.Lys168Arg) c.377A>G (p.Lys126Arg) n.579A>G | |
11 | g.17527249T>G | CA379795199 | USH1C | c.470A>C (p.Lys157Thr) c.503A>C (p.Lys168Thr) c.377A>C (p.Lys126Thr) n.579A>C | |
11 | g.17527250T>A | CA379795200 | USH1C | c.469A>T (p.Lys157Ter) c.502A>T (p.Lys168Ter) c.376A>T (p.Lys126Ter) n.578A>T | |
11 | g.17527250T>C | CA5905038 | USH1C | c.469A>G (p.Lys157Glu) c.502A>G (p.Lys168Glu) c.376A>G (p.Lys126Glu) n.578A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17527250T>G | CA379795201 | USH1C | c.469A>C (p.Lys157Gln) c.502A>C (p.Lys168Gln) c.376A>C (p.Lys126Gln) n.578A>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527250T= | CA1955187072 | USH1C | c.469A= (p.Lys157=) c.502A= (p.Lys168=) c.376A= (p.Lys126=) n.578A= | |
11 | g.17527251G>A | CA473302398 | USH1C | c.468C>T (p.Thr156=) c.501C>T (p.Thr167=) c.375C>T (p.Thr125=) n.577C>T | |
11 | g.17527251G>C | CA473302399 | USH1C | c.468C>G (p.Thr156=) c.501C>G (p.Thr167=) c.375C>G (p.Thr125=) n.577C>G | |
11 | g.17527251G>T | CA473302400 | USH1C | c.468C>A (p.Thr156=) c.501C>A (p.Thr167=) c.375C>A (p.Thr125=) n.577C>A | |
11 | g.17527252G>A | CA379795202 | USH1C | c.467C>T (p.Thr156Ile) c.500C>T (p.Thr167Ile) c.374C>T (p.Thr125Ile) n.576C>T | |
11 | g.17527252G>C | CA379795203 | USH1C | c.467C>G (p.Thr156Ser) c.500C>G (p.Thr167Ser) c.374C>G (p.Thr125Ser) n.576C>G | dbSNP gnomAD v2 |
11 | g.17527252G= | CA1955187073 | USH1C | c.467C= (p.Thr156=) c.500C= (p.Thr167=) c.374C= (p.Thr125=) n.576C= | |
11 | g.17527252G>T | CA379795204 | USH1C | c.467C>A (p.Thr156Asn) c.500C>A (p.Thr167Asn) c.374C>A (p.Thr125Asn) n.576C>A | |
11 | g.17527253T>A | CA379795205 | USH1C | c.466A>T (p.Thr156Ser) c.499A>T (p.Thr167Ser) c.373A>T (p.Thr125Ser) n.575A>T | |
11 | g.17527253T>C | CA379795206 | USH1C | c.466A>G (p.Thr156Ala) c.499A>G (p.Thr167Ala) c.373A>G (p.Thr125Ala) n.575A>G | |
11 | g.17527253T>G | CA379795207 | USH1C | c.466A>C (p.Thr156Pro) c.499A>C (p.Thr167Pro) c.373A>C (p.Thr125Pro) n.575A>C | |
11 | g.17527254T>A | CA473302405 | USH1C | c.465A>T (p.Arg155=) c.498A>T (p.Arg166=) c.372A>T (p.Arg124=) n.574A>T | |
11 | g.17527254T>C | CA473302407 | USH1C | c.465A>G (p.Arg155=) c.498A>G (p.Arg166=) c.372A>G (p.Arg124=) n.574A>G | |
11 | g.17527254T>G | CA473302408 | USH1C | c.465A>C (p.Arg155=) c.498A>C (p.Arg166=) c.372A>C (p.Arg124=) n.574A>C | |
11 | g.17527255C>A | CA379795209 | USH1C | c.464G>T (p.Arg155Leu) c.497G>T (p.Arg166Leu) c.371G>T (p.Arg124Leu) n.573G>T | |
11 | g.17527255C= | CA1955187074 | USH1C | c.464G= (p.Arg155=) c.497G= (p.Arg166=) c.371G= (p.Arg124=) n.573G= | |
11 | g.17527255C>G | CA5905039 | USH1C | c.464G>C (p.Arg155Pro) c.497G>C (p.Arg166Pro) c.371G>C (p.Arg124Pro) n.573G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.17527255C>T | CA379795208 | USH1C | c.464G>A (p.Arg155Gln) c.497G>A (p.Arg166Gln) c.371G>A (p.Arg124Gln) n.573G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
11 | g.17527256G>A | CA5905040 | USH1C | c.463C>T (p.Arg155Ter) c.496C>T (p.Arg166Ter) c.370C>T (p.Arg124Ter) n.572C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527256G>C | CA379795210 | USH1C | c.463C>G (p.Arg155Gly) c.496C>G (p.Arg166Gly) c.370C>G (p.Arg124Gly) n.572C>G | |
11 | g.17527256G= | CA1955187075 | USH1C | c.463C= (p.Arg155=) c.496C= (p.Arg166=) c.370C= (p.Arg124=) n.572C= | |
11 | g.17527256G>T | CA473302413 | USH1C | c.463C>A (p.Arg155=) c.496C>A (p.Arg166=) c.370C>A (p.Arg124=) n.572C>A | |
11 | g.17527257A>C | CA379795211 | USH1C | c.462T>G (p.Ile154Met) c.495T>G (p.Ile165Met) c.369T>G (p.Ile123Met) n.571T>G | |
11 | g.17527257A>G | CA473302415 | USH1C | c.462T>C (p.Ile154=) c.495T>C (p.Ile165=) c.369T>C (p.Ile123=) n.571T>C | |
11 | g.17527257A>T | CA473302416 | USH1C | c.462T>A (p.Ile154=) c.495T>A (p.Ile165=) c.369T>A (p.Ile123=) n.571T>A | |
11 | g.17527258A= | CA1955187076 | USH1C | c.461T= (p.Ile154=) c.494T= (p.Ile165=) c.368T= (p.Ile123=) n.570T= | |
11 | g.17527258A>C | CA379795212 | USH1C | c.461T>G (p.Ile154Ser) c.494T>G (p.Ile165Ser) c.368T>G (p.Ile123Ser) n.570T>G | |
11 | g.17527258A>G | CA379795213 | USH1C | c.461T>C (p.Ile154Thr) c.494T>C (p.Ile165Thr) c.368T>C (p.Ile123Thr) n.570T>C | gnomAD v4 |
11 | g.17527258A>T | CA379795214 | USH1C | c.461T>A (p.Ile154Asn) c.494T>A (p.Ile165Asn) c.368T>A (p.Ile123Asn) n.570T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527259T>A | CA379795215 | USH1C | c.460A>T (p.Ile154Phe) c.493A>T (p.Ile165Phe) c.367A>T (p.Ile123Phe) n.569A>T | |
11 | g.17527259T>C | CA5905041 | USH1C | c.460A>G (p.Ile154Val) c.493A>G (p.Ile165Val) c.367A>G (p.Ile123Val) n.569A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17527259T>G | CA379795216 | USH1C | c.460A>C (p.Ile154Leu) c.493A>C (p.Ile165Leu) c.367A>C (p.Ile123Leu) n.569A>C | |
11 | g.17527259T= | CA1955187077 | USH1C | c.460A= (p.Ile154=) c.493A= (p.Ile165=) c.367A= (p.Ile123=) n.569A= | |
11 | g.17527260G>A | CA473302421 | USH1C | c.459C>T (p.Leu153=) c.492C>T (p.Leu164=) c.366C>T (p.Leu122=) n.568C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527260G>C | CA473302423 | USH1C | c.459C>G (p.Leu153=) c.492C>G (p.Leu164=) c.366C>G (p.Leu122=) n.568C>G | |
11 | g.17527260G= | CA1955187078 | USH1C | c.459C= (p.Leu153=) c.492C= (p.Leu164=) c.366C= (p.Leu122=) n.568C= | |
11 | g.17527260G>T | CA473302424 | USH1C | c.459C>A (p.Leu153=) c.492C>A (p.Leu164=) c.366C>A (p.Leu122=) n.568C>A | |
11 | g.17527261A>C | CA379795217 | USH1C | c.458T>G (p.Leu153Arg) c.491T>G (p.Leu164Arg) c.365T>G (p.Leu122Arg) n.567T>G | |
11 | g.17527261A>G | CA379795218 | USH1C | c.458T>C (p.Leu153Pro) c.491T>C (p.Leu164Pro) c.365T>C (p.Leu122Pro) n.567T>C | |
11 | g.17527261A>T | CA379795219 | USH1C | c.458T>A (p.Leu153His) c.491T>A (p.Leu164His) c.365T>A (p.Leu122His) n.567T>A | |
11 | g.17527262G>A | CA379795220 | USH1C | c.457C>T (p.Leu153Phe) c.490C>T (p.Leu164Phe) c.364C>T (p.Leu122Phe) n.566C>T | gnomAD v4 |
11 | g.17527262G>C | CA379795221 | USH1C | c.457C>G (p.Leu153Val) c.490C>G (p.Leu164Val) c.364C>G (p.Leu122Val) n.566C>G | |
11 | g.17527262G>T | CA379795222 | USH1C | c.457C>A (p.Leu153Ile) c.490C>A (p.Leu164Ile) c.364C>A (p.Leu122Ile) n.566C>A | |
11 | g.17527263G>A | CA473302430 | USH1C | c.456C>T (p.Asn152=) c.489C>T (p.Asn163=) c.363C>T (p.Asn121=) n.565C>T | |
11 | g.17527263G>C | CA379795223 | USH1C | c.456C>G (p.Asn152Lys) c.489C>G (p.Asn163Lys) c.363C>G (p.Asn121Lys) n.565C>G | |
11 | g.17527263G>T | CA379795224 | USH1C | c.456C>A (p.Asn152Lys) c.489C>A (p.Asn163Lys) c.363C>A (p.Asn121Lys) n.565C>A | |
11 | g.17527264T>A | CA379795225 | USH1C | c.455A>T (p.Asn152Ile) c.488A>T (p.Asn163Ile) c.362A>T (p.Asn121Ile) n.564A>T | |
11 | g.17527264T>C | CA379795226 | USH1C | c.455A>G (p.Asn152Ser) c.488A>G (p.Asn163Ser) c.362A>G (p.Asn121Ser) n.564A>G | gnomAD v4 |
11 | g.17527264T>G | CA379795227 | USH1C | c.455A>C (p.Asn152Thr) c.488A>C (p.Asn163Thr) c.362A>C (p.Asn121Thr) n.564A>C | |
11 | g.17527265T>A | CA379795228 | USH1C | c.454A>T (p.Asn152Tyr) c.487A>T (p.Asn163Tyr) c.361A>T (p.Asn121Tyr) n.563A>T | |
11 | g.17527265T>C | CA379795229 | USH1C | c.454A>G (p.Asn152Asp) c.487A>G (p.Asn163Asp) c.361A>G (p.Asn121Asp) n.563A>G | |
11 | g.17527265T>G | CA379795230 | USH1C | c.454A>C (p.Asn152His) c.487A>C (p.Asn163His) c.361A>C (p.Asn121His) n.563A>C |