Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17527070_17527160delinsAGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCT | CA1955186902 | USH1C | c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT (n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT) c.529+63_530-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT (n.529+63_530-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT) c.403+63_404-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT (n.403+63_404-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT) n.605+63_606-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | |
11 | g.17527142_17527143insATCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACC | CA935547058 | USH1C | c.497-31_497-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-31_497-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-31_530-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-31_530-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-31_404-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-31_404-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-31_606-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | gnomAD v3 gnomAD v4 |
11 | g.17527156_17527157insACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTG | CA918828287 | USH1C | c.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-31_606-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | dbSNP |
11 | g.17527112_17527156dup | CA597668782 | USH1C | c.497-75_497-31dup (n.497-75_497-31dup) c.530-75_530-31dup (n.530-75_530-31dup) c.404-75_404-31dup (n.404-75_404-31dup) n.606-75_606-31dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527112_17527156del | CA473302313 | USH1C | c.497-75_497-31del (n.497-75_497-31del) c.530-75_530-31del (n.530-75_530-31del) c.404-75_404-31del (n.404-75_404-31del) n.606-75_606-31del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527112_17527201del | CA935547049 | USH1C | c.496+63_497-31del (n.496+63_497-31del) c.529+63_530-31del (n.529+63_530-31del) c.403+63_404-31del (n.403+63_404-31del) n.605+63_606-31del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527095_17527135del | CA2612675349 | USH1C | c.497-84_497-44del (n.497-84_497-44del) c.530-84_530-44del (n.530-84_530-44del) c.404-84_404-44del (n.404-84_404-44del) n.606-84_606-44del | gnomAD v4 |
11 | g.17527103_17527144del | CA2612676525 | USH1C | c.496+80_497-62del (n.496+80_497-62del) c.529+80_530-62del (n.529+80_530-62del) c.403+80_404-62del (n.403+80_404-62del) n.605+80_606-62del | dbSNP gnomAD v4 |
11 | g.17527109_17527142del | CA2790593941 | USH1C | c.496+81_497-69del (n.496+81_497-69del) c.529+81_530-69del (n.529+81_530-69del) c.403+81_404-69del (n.403+81_404-69del) n.605+81_606-69del | |
11 | g.17527111_17527138del | CA2592429713 | USH1C | c.496+85_497-71del (n.496+85_497-71del) c.529+85_530-71del (n.529+85_530-71del) c.403+85_404-71del (n.403+85_404-71del) n.605+85_606-71del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527111_17527151del | CA2612676545 | USH1C | c.496+72_497-71del (n.496+72_497-71del) c.529+72_530-71del (n.529+72_530-71del) c.403+72_404-71del (n.403+72_404-71del) n.605+72_606-71del | gnomAD v4 |
11 | g.17527112_17527157delinsACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGC | CA1955186943 | USH1C | c.496+66_497-72delinsGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGT (n.496+66_497-72delinsGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGT) c.529+66_530-72delinsGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGT (n.529+66_530-72delinsGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGT) c.403+66_404-72delinsGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGT (n.403+66_404-72delinsGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGT) n.605+66_606-72delinsGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGT | |
11 | g.17527131_17527132insCCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCC | CA2612676778 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527135_17527136insACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCC | CA2612676788 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527135_17527136insGCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCC | CA935547342 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v3 gnomAD v4 |
11 | g.17527137_17527138insACACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTC | CA2612676794 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGTGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGTGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGTGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGTGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGTGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGTGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGTGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527139_17527140insCCCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCC | CA2612676716 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGGGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527142_17527143insATCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACC | CA2592429714 | USH1C | c.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v3 gnomAD v4 |
11 | g.17527145_17527146insCTGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTC | CA1955186946 | USH1C | c.497-73_497-72insGCAGTACTCCAGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCAGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCAGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCAGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCAGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCAGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCAGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | dbSNP gnomAD v4 |
11 | g.17527146_17527147insGGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCA | CA2612676797 | USH1C | c.497-73_497-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527151_17527152insGACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAG | CA2570603140 | USH1C | c.497-73_497-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527152_17527153insCCTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGT | CA2612676700 | USH1C | c.497-73_497-72insGCAGGACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGGACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGGACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGGACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGGACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGGACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGGACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527152_17527153insGCTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGT | CA2612676659 | USH1C | c.497-73_497-72insGCAGCACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGCACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGCACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGCACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGCACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGCACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGCACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527152_17527153insTCTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGT | CA2612676702 | USH1C | c.497-73_497-72insGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527152_17527153insTCTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGT | CA2612676709 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGAACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527153_17527154insATGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTA | CA2612676801 | USH1C | c.497-73_497-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527156_17527157insGCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTG | CA2612676697 | USH1C | c.497-73_497-72insCCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insCCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insCCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insCCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insCCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insCCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insCCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527156_17527157insACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTG | CA2612676826 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527162_17527163insCCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGC | CA2612676834 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527167_17527168insTGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCC | CA2612676693 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527176_17527177insGCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCC | CA2790594021 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | |
11 | g.17527176_17527177insCCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCC | CA2612676831 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527178_17527179insTCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTC | CA2612676690 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527180_17527181insACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCC | CA2612676821 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527180_17527181insGCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCC | CA2531416449 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527183_17527184insTACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCC | CA2612676689 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTAGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTAGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTAGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTAGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTAGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTAGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTAGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527187_17527188insATCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACC | CA935547348 | USH1C | c.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v3 gnomAD v4 |
11 | g.17527187_17527188insATCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACC | CA2612676820 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527190_17527191insGTGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTC | CA2612676688 | USH1C | c.497-73_497-72insGCAGTACTCCACGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCACGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCACGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCACGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCACGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCACGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCACGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527190_17527191insGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCATCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTC | CA918828305 | USH1C | c.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | dbSNP |
11 | g.17527192_17527193insTGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCAT | CA2612676686 | USH1C | c.497-73_497-72insGCAGTACTCAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527196_17527197insGACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAG | CA2612676819 | USH1C | c.497-73_497-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTCCTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527198_17527199insATGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTA | CA2612676816 | USH1C | c.497-73_497-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCATTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527198_17527199insTTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTA | CA2612676682 | USH1C | c.497-73_497-72insGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527198_17527199insTTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTA | CA2612676683 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAATACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527199_17527200insGGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTAC | CA2612676814 | USH1C | c.497-73_497-72insGCCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527207_17527208insCCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGC | CA2612676747 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527208_17527209insTCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCT | CA2612676680 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGAAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACTGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612676670 | USH1C | c.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACAGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612676666 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCATCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612676752 | USH1C | c.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCTTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612676674 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAAGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAAGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAAGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAAGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAAGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAAGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAAGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA915947974 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | ClinVar dbSNP |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA918828304 | USH1C | c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.530-73_530-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.404-73_404-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.606-73_606-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | dbSNP |
11 | g.17527165_17527209dup | CA935547341 | USH1C | c.496+66_497-73dup (n.496+66_497-73dup) c.529+66_530-73dup (n.529+66_530-73dup) c.403+66_404-73dup (n.403+66_404-73dup) n.605+66_606-73dup | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527120_17527209dup | CA2612676808 | USH1C | c.496+21_497-73dup (n.496+21_497-73dup) c.529+21_530-73dup (n.529+21_530-73dup) c.403+21_404-73dup (n.403+21_404-73dup) n.605+21_606-73dup | gnomAD v4 |
11 | g.17527165_17527209del | CA218461503 | USH1C | c.496+66_497-73del (n.496+66_497-73del) c.529+66_530-73del (n.529+66_530-73del) c.403+66_404-73del (n.403+66_404-73del) n.605+66_606-73del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527120_17527209del | CA935547338 | USH1C | c.496+21_497-73del (n.496+21_497-73del) c.529+21_530-73del (n.529+21_530-73del) c.403+21_404-73del (n.403+21_404-73del) n.605+21_606-73del | gnomAD v3 gnomAD v4 |
11 | g.17527115_17527152del | CA2790594077 | USH1C | c.496+71_497-75del (n.496+71_497-75del) c.529+71_530-75del (n.529+71_530-75del) c.403+71_404-75del (n.403+71_404-75del) n.605+71_606-75del | |
11 | g.17527115_17527159delinsTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC | CA1955186948 | USH1C | c.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA (n.496+64_497-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA) c.529+64_530-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA (n.529+64_530-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA) c.403+64_404-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA (n.403+64_404-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA) n.605+64_606-75delinsGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCA | |
11 | g.17527116_17527159del | CA935547354 | USH1C | c.496+64_497-76del (n.496+64_497-76del) c.529+64_530-76del (n.529+64_530-76del) c.403+64_404-76del (n.403+64_404-76del) n.605+64_606-76del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527159_17527160insAGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC | CA2612676850 | USH1C | c.497-76_497-75insTGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-76_497-75insTGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-76_530-75insTGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-76_530-75insTGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-76_404-75insTGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-76_404-75insTGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-76_606-75insTGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | gnomAD v4 |
11 | g.17527159_17527160insCGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC | CA2790594096 | USH1C | c.497-76_497-75insGGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-76_497-75insGGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-76_530-75insGGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-76_530-75insGGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-76_404-75insGGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-76_404-75insGGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-76_606-75insGGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | |
11 | g.17527204_17527205insGGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC | CA2612676854 | USH1C | c.497-76_497-75insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-76_497-75insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-76_530-75insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-76_530-75insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-76_404-75insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-76_404-75insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-76_606-75insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | gnomAD v4 |
11 | g.17527118_17527158del | CA2790594112 | USH1C | c.496+66_497-77del (n.496+66_497-77del) c.529+66_530-77del (n.529+66_530-77del) c.403+66_404-77del (n.403+66_404-77del) n.605+66_606-77del | |
11 | g.17527160_17527161insCCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCT | CA2612676862 | USH1C | c.497-77_497-76insGAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG (n.497-77_497-76insGAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG) c.530-77_530-76insGAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG (n.530-77_530-76insGAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG) c.404-77_404-76insGAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG (n.404-77_404-76insGAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG) n.606-77_606-76insGAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAG | gnomAD v4 |
11 | g.17527118_17527161delinsTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTG | CA1955186953 | USH1C | c.496+62_497-78delinsCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.496+62_497-78delinsCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) c.529+62_530-78delinsCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.529+62_530-78delinsCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) c.403+62_404-78delinsCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.403+62_404-78delinsCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) n.605+62_606-78delinsCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA | |
11 | g.17527161_17527162insTTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTG | CA2612676871 | USH1C | c.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.497-78_497-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) c.530-78_530-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.530-78_530-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) c.404-78_404-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.404-78_404-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) n.606-78_606-77insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA | gnomAD v4 |
11 | g.17527162_17527163insCCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGC | CA935547362 | USH1C | c.497-79_497-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.497-79_497-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) c.530-79_530-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.530-79_530-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) c.404-79_404-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.404-79_404-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) n.606-79_606-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527120_17527162del | CA935547377 | USH1C | c.496+62_497-79del (n.496+62_497-79del) c.529+62_530-79del (n.529+62_530-79del) c.403+62_404-79del (n.403+62_404-79del) n.605+62_606-79del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527207_17527208insCCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGC | CA2612676876 | USH1C | c.497-79_497-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.497-79_497-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) c.530-79_530-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.530-79_530-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) c.404-79_404-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG (n.404-79_404-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG) n.606-79_606-78insGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG | gnomAD v4 |
11 | g.17527120_17527149del | CA2790594145 | USH1C | c.496+74_497-80del (n.496+74_497-80del) c.529+74_530-80del (n.529+74_530-80del) c.403+74_404-80del (n.403+74_404-80del) n.605+74_606-80del | |
11 | g.17527124_17527167del | CA935547379 | USH1C | c.496+60_497-80del (n.496+60_497-80del) c.529+60_530-80del (n.529+60_530-80del) c.403+60_404-80del (n.403+60_404-80del) n.605+60_606-80del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527124_17527139del | CA2517189317 | USH1C | c.496+87_497-81del (n.496+87_497-81del) c.529+87_530-81del (n.529+87_530-81del) c.403+87_404-81del (n.403+87_404-81del) n.605+87_606-81del | gnomAD v4 |
11 | g.17527124_17527129del | CA2612676920 | USH1C | c.497-88_497-83del (n.497-88_497-83del) c.530-88_530-83del (n.530-88_530-83del) c.404-88_404-83del (n.404-88_404-83del) n.606-88_606-83del | gnomAD v4 |
11 | g.17527124_17527133del | CA2612676919 | USH1C | c.497-92_497-83del (n.497-92_497-83del) c.530-92_530-83del (n.530-92_530-83del) c.404-92_404-83del (n.404-92_404-83del) n.606-92_606-83del | gnomAD v4 |
11 | g.17527124_17527137del | CA2790594176 | USH1C | c.496+87_497-83del (n.496+87_497-83del) c.529+87_530-83del (n.529+87_530-83del) c.403+87_404-83del (n.403+87_404-83del) n.605+87_606-83del | |
11 | g.17527124_17527132del | CA2515751012 | USH1C | c.497-92_497-84del (n.497-92_497-84del) c.530-92_530-84del (n.530-92_530-84del) c.404-92_404-84del (n.404-92_404-84del) n.606-92_606-84del | gnomAD v4 |
11 | g.17527124_17527136del | CA2612676943 | USH1C | c.496+87_497-84del (n.496+87_497-84del) c.529+87_530-84del (n.529+87_530-84del) c.403+87_404-84del (n.403+87_404-84del) n.605+87_606-84del | gnomAD v4 |
11 | g.17527124_17527140del | CA2547258678 | USH1C | c.496+83_497-84del (n.496+83_497-84del) c.529+83_530-84del (n.529+83_530-84del) c.403+83_404-84del (n.403+83_404-84del) n.605+83_606-84del | gnomAD v4 |
11 | g.17527125_17527149del | CA2790594190 | USH1C | c.496+75_497-84del (n.496+75_497-84del) c.529+75_530-84del (n.529+75_530-84del) c.403+75_404-84del (n.403+75_404-84del) n.605+75_606-84del | |
11 | g.17527124_17527163del | CA2517033213 | USH1C | c.496+60_497-84del (n.496+60_497-84del) c.529+60_530-84del (n.529+60_530-84del) c.403+60_404-84del (n.403+60_404-84del) n.605+60_606-84del | gnomAD v4 |
11 | g.17527167_17527168insTGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCC | CA935547383 | USH1C | c.497-84_497-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.497-84_497-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) c.530-84_530-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.530-84_530-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) c.404-84_404-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.404-84_404-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) n.606-84_606-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC | gnomAD v3 gnomAD v4 |
11 | g.17527209_17527210insCCCTGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612676928 | USH1C | c.497-84_497-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.497-84_497-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) c.530-84_530-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.530-84_530-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) c.404-84_404-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.404-84_404-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) n.606-84_606-83insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC | gnomAD v4 |
11 | g.17527136_17527139dup | CA2612676973 | USH1C | c.497-88_497-85dup (n.497-88_497-85dup) c.530-88_530-85dup (n.530-88_530-85dup) c.404-88_404-85dup (n.404-88_404-85dup) n.606-88_606-85dup | gnomAD v4 |
11 | g.17527132_17527139dup | CA1955186961 | USH1C | c.497-92_497-85dup (n.497-92_497-85dup) c.530-92_530-85dup (n.530-92_530-85dup) c.404-92_404-85dup (n.404-92_404-85dup) n.606-92_606-85dup | dbSNP |
11 | g.17527136_17527139del | CA379795081 | USH1C | c.497-88_497-85del (n.497-88_497-85del) c.530-88_530-85del (n.530-88_530-85del) c.404-88_404-85del (n.404-88_404-85del) n.606-88_606-85del | dbSNP gnomAD v4 |
11 | g.17527126_17527139del | CA2612676967 | USH1C | c.496+85_497-85del (n.496+85_497-85del) c.529+85_530-85del (n.529+85_530-85del) c.403+85_404-85del (n.403+85_404-85del) n.605+85_606-85del | gnomAD v4 |
11 | g.17527125_17527142del | CA2612676964 | USH1C | c.496+81_497-85del (n.496+81_497-85del) c.529+81_530-85del (n.529+81_530-85del) c.403+81_404-85del (n.403+81_404-85del) n.605+81_606-85del | gnomAD v4 |
11 | g.17527126_17527142del | CA2612676966 | USH1C | c.496+82_497-85del (n.496+82_497-85del) c.529+82_530-85del (n.529+82_530-85del) c.403+82_404-85del (n.403+82_404-85del) n.605+82_606-85del | gnomAD v4 |
11 | g.17527125_17527152delinsCCCTCCCTCCCTCCCACCGTCATGGAGT | CA1955186960 | USH1C | c.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG (n.496+71_497-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG) c.529+71_530-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG (n.529+71_530-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG) c.403+71_404-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG (n.403+71_404-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG) n.605+71_606-85delinsACTCCATGACGGTGGGAGGGAGGGAGGG | |
11 | g.17527125_17527162del | CA2612676962 | USH1C | c.496+61_497-85del (n.496+61_497-85del) c.529+61_530-85del (n.529+61_530-85del) c.403+61_404-85del (n.403+61_404-85del) n.605+61_606-85del | gnomAD v4 |
11 | g.17527127_17527168del | CA2612676960 | USH1C | c.496+57_497-85del (n.496+57_497-85del) c.529+57_530-85del (n.529+57_530-85del) c.403+57_404-85del (n.403+57_404-85del) n.605+57_606-85del | gnomAD v4 |
11 | g.17527136_17527184del | CA2612676959 | USH1C | c.496+50_497-85del (n.496+50_497-85del) c.529+50_530-85del (n.529+50_530-85del) c.403+50_404-85del (n.403+50_404-85del) n.605+50_606-85del | gnomAD v4 |
11 | g.17527201_17527202insACCTGCTCCCCCACCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTG | CA2612676970 | USH1C | c.497-85_497-84insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.497-85_497-84insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) c.530-85_530-84insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.530-85_530-84insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) c.404-85_404-84insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.404-85_404-84insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) n.606-85_606-84insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGG | gnomAD v4 |
11 | g.17527126_17527152del | CA597668838 | USH1C | c.496+71_497-86del (n.496+71_497-86del) c.529+71_530-86del (n.529+71_530-86del) c.403+71_404-86del (n.403+71_404-86del) n.605+71_606-86del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527128_17527129del | CA2612676984 | USH1C | c.497-88_497-87del (n.497-88_497-87del) c.530-88_530-87del (n.530-88_530-87del) c.404-88_404-87del (n.404-88_404-87del) n.606-88_606-87del | gnomAD v4 |
11 | g.17527128_17527132del | CA2612676990 | USH1C | c.497-92_497-88del (n.497-92_497-88del) c.530-92_530-88del (n.530-92_530-88del) c.404-92_404-88del (n.404-92_404-88del) n.606-92_606-88del | gnomAD v4 |
11 | g.17527128_17527136del | CA2612676986 | USH1C | c.496+87_497-88del (n.496+87_497-88del) c.529+87_530-88del (n.529+87_530-88del) c.403+87_404-88del (n.403+87_404-88del) n.605+87_606-88del | gnomAD v4 |
11 | g.17527128_17527140del | CA2612676992 | USH1C | c.496+83_497-88del (n.496+83_497-88del) c.529+83_530-88del (n.529+83_530-88del) c.403+83_404-88del (n.403+83_404-88del) n.605+83_606-88del | gnomAD v4 |
11 | g.17527128_17527144del | CA2612676989 | USH1C | c.496+79_497-88del (n.496+79_497-88del) c.529+79_530-88del (n.529+79_530-88del) c.403+79_404-88del (n.403+79_404-88del) n.605+79_606-88del | gnomAD v4 |
11 | g.17527128_17527171delinsTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCC | CA1955186966 | USH1C | c.496+52_497-88delinsGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGA (n.496+52_497-88delinsGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGA) c.529+52_530-88delinsGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGA (n.529+52_530-88delinsGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGA) c.403+52_404-88delinsGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGA (n.403+52_404-88delinsGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGA) n.605+52_606-88delinsGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGA | |
11 | g.17527129C>A | CA2790594211 | USH1C | c.497-89G>T (n.497-89G>T) c.530-89G>T (n.530-89G>T) c.404-89G>T (n.404-89G>T) n.606-89G>T | |
11 | g.17527131_17527139del | CA2790594210 | USH1C | c.496+86_497-89del (n.496+86_497-89del) c.529+86_530-89del (n.529+86_530-89del) c.403+86_404-89del (n.403+86_404-89del) n.605+86_606-89del | |
11 | g.17527132_17527167del | CA935547391 | USH1C | c.496+59_497-89del (n.496+59_497-89del) c.529+59_530-89del (n.529+59_530-89del) c.403+59_404-89del (n.403+59_404-89del) n.605+59_606-89del | gnomAD v3 gnomAD v4 |
11 | g.17527129_17527168del | CA2612677001 | USH1C | c.496+55_497-89del (n.496+55_497-89del) c.529+55_530-89del (n.529+55_530-89del) c.403+55_404-89del (n.403+55_404-89del) n.605+55_606-89del | dbSNP gnomAD v4 |
11 | g.17527132_17527168del | CA2592429716 | USH1C | c.496+58_497-89del (n.496+58_497-89del) c.529+58_530-89del (n.529+58_530-89del) c.403+58_404-89del (n.403+58_404-89del) n.605+58_606-89del | gnomAD v3 gnomAD v4 |
11 | g.17527131_17527168del | CA2612677000 | USH1C | c.496+57_497-89del (n.496+57_497-89del) c.529+57_530-89del (n.529+57_530-89del) c.403+57_404-89del (n.403+57_404-89del) n.605+57_606-89del | gnomAD v4 |
11 | g.17527172_17527173insCCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCC | CA2612676996 | USH1C | c.497-89_497-88insGGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.497-89_497-88insGGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) c.530-89_530-88insGGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.530-89_530-88insGGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) c.404-89_404-88insGGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.404-89_404-88insGGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) n.606-89_606-88insGGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG | gnomAD v4 |
11 | g.17527172_17527173insGCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCC | CA2612676998 | USH1C | c.497-89_497-88insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.497-89_497-88insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) c.530-89_530-88insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.530-89_530-88insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) c.404-89_404-88insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.404-89_404-88insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) n.606-89_606-88insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG | gnomAD v4 |
11 | g.17527130_17527172del | CA935547394 | USH1C | c.496+52_497-89del (n.496+52_497-89del) c.529+52_530-89del (n.529+52_530-89del) c.403+52_404-89del (n.403+52_404-89del) n.605+52_606-89del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527140_17527180dup | CA2612676995 | USH1C | c.496+54_497-89dup (n.496+54_497-89dup) c.529+54_530-89dup (n.529+54_530-89dup) c.403+54_404-89dup (n.403+54_404-89dup) n.605+54_606-89dup | gnomAD v4 |
11 | g.17527140_17527180del | CA2612677002 | USH1C | c.496+54_497-89del (n.496+54_497-89del) c.529+54_530-89del (n.529+54_530-89del) c.403+54_404-89del (n.403+54_404-89del) n.605+54_606-89del | gnomAD v4 |
11 | g.17527129_17527130insA | CA2790594212 | USH1C | c.497-90_497-89insT (n.497-90_497-89insT) c.530-90_530-89insT (n.530-90_530-89insT) c.404-90_404-89insT (n.404-90_404-89insT) n.606-90_606-89insT | |
11 | g.17527130C>A | CA2790594214 | USH1C | c.497-90G>T (n.497-90G>T) c.530-90G>T (n.530-90G>T) c.404-90G>T (n.404-90G>T) n.606-90G>T | |
11 | g.17527130C>G | CA2790594215 | USH1C | c.497-90G>C (n.497-90G>C) c.530-90G>C (n.530-90G>C) c.404-90G>C (n.404-90G>C) n.606-90G>C | |
11 | g.17527132_17527142del | CA935547410 | USH1C | c.496+83_497-90del (n.496+83_497-90del) c.529+83_530-90del (n.529+83_530-90del) c.403+83_404-90del (n.403+83_404-90del) n.605+83_606-90del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527130_17527149del | CA2790594213 | USH1C | c.496+74_497-90del (n.496+74_497-90del) c.529+74_530-90del (n.529+74_530-90del) c.403+74_404-90del (n.403+74_404-90del) n.605+74_606-90del | |
11 | g.17527131C>A | CA2790594220 | USH1C | c.497-91G>T (n.497-91G>T) c.530-91G>T (n.530-91G>T) c.404-91G>T (n.404-91G>T) n.606-91G>T | |
11 | g.17527131C= | CA1955186967 | USH1C | c.497-91G= (n.497-91G=) c.530-91G= (n.530-91G=) c.404-91G= (n.404-91G=) n.606-91G= | |
11 | g.17527131C>G | CA2790594219 | USH1C | c.497-91G>C (n.497-91G>C) c.530-91G>C (n.530-91G>C) c.404-91G>C (n.404-91G>C) n.606-91G>C | |
11 | g.17527131C>T | CA1955186968 | USH1C | c.497-91G>A (n.497-91G>A) c.530-91G>A (n.530-91G>A) c.404-91G>A (n.404-91G>A) n.606-91G>A | dbSNP gnomAD v4 |
11 | g.17527131_17527149del | CA2790594218 | USH1C | c.496+74_497-91del (n.496+74_497-91del) c.529+74_530-91del (n.529+74_530-91del) c.403+74_404-91del (n.403+74_404-91del) n.605+74_606-91del | |
11 | g.17527131_17527132insAG | CA2790594223 | USH1C | c.497-92_497-91insCT (n.497-92_497-91insCT) c.530-92_530-91insCT (n.530-92_530-91insCT) c.404-92_404-91insCT (n.404-92_404-91insCT) n.606-92_606-91insCT | |
11 | g.17527131_17527132insACA | CA2790594222 | USH1C | c.497-92_497-91insTGT (n.497-92_497-91insTGT) c.530-92_530-91insTGT (n.530-92_530-91insTGT) c.404-92_404-91insTGT (n.404-92_404-91insTGT) n.606-92_606-91insTGT | |
11 | g.17527132del | CA2612677009 | USH1C | c.497-92del (n.497-92del) c.530-92del (n.530-92del) c.404-92del (n.404-92del) n.606-92del | gnomAD v4 |
11 | g.17527132T>C | CA597668843 | USH1C | c.497-92A>G (n.497-92A>G) c.530-92A>G (n.530-92A>G) c.404-92A>G (n.404-92A>G) n.606-92A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527132T>G | CA597668844 | USH1C | c.497-92A>C (n.497-92A>C) c.530-92A>C (n.530-92A>C) c.404-92A>C (n.404-92A>C) n.606-92A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527132T= | CA1955186969 | USH1C | c.497-92A= (n.497-92A=) c.530-92A= (n.530-92A=) c.404-92A= (n.404-92A=) n.606-92A= | |
11 | g.17527132_17527136del | CA2612677008 | USH1C | c.496+87_497-92del (n.496+87_497-92del) c.529+87_530-92del (n.529+87_530-92del) c.403+87_404-92del (n.403+87_404-92del) n.605+87_606-92del | gnomAD v4 |
11 | g.17527132_17527140del | CA2612677007 | USH1C | c.496+83_497-92del (n.496+83_497-92del) c.529+83_530-92del (n.529+83_530-92del) c.403+83_404-92del (n.403+83_404-92del) n.605+83_606-92del | gnomAD v4 |
11 | g.17527132_17527169delinsTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCG | CA1955186970 | USH1C | c.496+54_497-92delinsCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGA (n.496+54_497-92delinsCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGA) c.529+54_530-92delinsCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGA (n.529+54_530-92delinsCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGA) c.403+54_404-92delinsCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGA (n.403+54_404-92delinsCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGA) n.605+54_606-92delinsCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGA | |
11 | g.17527133C>A | CA2790594226 | USH1C | c.496+90G>T (n.496+90G>T) c.529+90G>T (n.529+90G>T) c.403+90G>T (n.403+90G>T) n.605+90G>T | |
11 | g.17527133C>T | CA2790594227 | USH1C | c.496+90G>A (n.496+90G>A) c.529+90G>A (n.529+90G>A) c.403+90G>A (n.403+90G>A) n.605+90G>A | |
11 | g.17527135del | CA2790594224 | USH1C | c.496+90del (n.496+90del) c.529+90del (n.529+90del) c.403+90del (n.403+90del) n.605+90del | |
11 | g.17527133_17527139del | CA2790594225 | USH1C | c.496+84_496+90del (n.496+84_496+90del) c.529+84_529+90del (n.529+84_529+90del) c.403+84_403+90del (n.403+84_403+90del) n.605+84_605+90del | |
11 | g.17527134_17527139del | CA2612677017 | USH1C | c.496+85_496+90del (n.496+85_496+90del) c.529+85_529+90del (n.529+85_529+90del) c.403+85_403+90del (n.403+85_403+90del) n.605+85_605+90del | gnomAD v4 |
11 | g.17527133_17527142del | CA2612677018 | USH1C | c.496+81_496+90del (n.496+81_496+90del) c.529+81_529+90del (n.529+81_529+90del) c.403+81_403+90del (n.403+81_403+90del) n.605+81_605+90del | gnomAD v4 |
11 | g.17527176_17527177insCCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCC | CA2538071624 | USH1C | c.496+90_497-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.496+90_497-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) c.529+90_530-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.529+90_530-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) c.403+90_404-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.403+90_404-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) n.605+90_606-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG | gnomAD v4 |
11 | g.17527140_17527176del | CA935547418 | USH1C | c.496+54_496+90del (n.496+54_496+90del) c.529+54_529+90del (n.529+54_529+90del) c.403+54_403+90del (n.403+54_403+90del) n.605+54_605+90del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCCCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612677013 | USH1C | c.496+90_497-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.496+90_497-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) c.529+90_530-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.529+90_530-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) c.403+90_404-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.403+90_404-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) n.605+90_606-92insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCGCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612677015 | USH1C | c.496+90_497-92insCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.496+90_497-92insCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) c.529+90_530-92insCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.529+90_530-92insCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) c.403+90_404-92insCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.403+90_404-92insCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) n.605+90_606-92insCGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG | gnomAD v4 |
11 | g.17527133_17527134insAGAT | CA2790594229 | USH1C | c.496+89_496+90insATCT (n.496+89_496+90insATCT) c.529+89_529+90insATCT (n.529+89_529+90insATCT) c.403+89_403+90insATCT (n.403+89_403+90insATCT) n.605+89_605+90insATCT | |
11 | g.17527134C>A | CA2790594232 | USH1C | c.496+89G>T (n.496+89G>T) c.529+89G>T (n.529+89G>T) c.403+89G>T (n.403+89G>T) n.605+89G>T | |
11 | g.17527134C>T | CA2574769521 | USH1C | c.496+89G>A (n.496+89G>A) c.529+89G>A (n.529+89G>A) c.403+89G>A (n.403+89G>A) n.605+89G>A | |
11 | g.17527134_17527149del | CA2790594230 | USH1C | c.496+74_496+89del (n.496+74_496+89del) c.529+74_529+89del (n.529+74_529+89del) c.403+74_403+89del (n.403+74_403+89del) n.605+74_605+89del | |
11 | g.17527134_17527135insACG | CA2790594234 | USH1C | c.496+88_496+89insCGT (n.496+88_496+89insCGT) c.529+88_529+89insCGT (n.529+88_529+89insCGT) c.403+88_403+89insCGT (n.403+88_403+89insCGT) n.605+88_605+89insCGT | |
11 | g.17527135C>A | CA2612677029 | USH1C | c.496+88G>T (n.496+88G>T) c.529+88G>T (n.529+88G>T) c.403+88G>T (n.403+88G>T) n.605+88G>T | gnomAD v4 |
11 | g.17527135C>G | CA2790594235 | USH1C | c.496+88G>C (n.496+88G>C) c.529+88G>C (n.529+88G>C) c.403+88G>C (n.403+88G>C) n.605+88G>C | |
11 | g.17527135C>T | CA2539703152 | USH1C | c.496+88G>A (n.496+88G>A) c.529+88G>A (n.529+88G>A) c.403+88G>A (n.403+88G>A) n.605+88G>A | |
11 | g.17527136_17527137del | CA2612677027 | USH1C | c.496+87_496+88del (n.496+87_496+88del) c.529+87_529+88del (n.529+87_529+88del) c.403+87_403+88del (n.403+87_403+88del) n.605+87_605+88del | gnomAD v4 |
11 | g.17527135_17527149del | CA2790594236 | USH1C | c.496+74_496+88del (n.496+74_496+88del) c.529+74_529+88del (n.529+74_529+88del) c.403+74_403+88del (n.403+74_403+88del) n.605+74_605+88del | |
11 | g.17527178_17527179insACTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTC | CA2612677019 | USH1C | c.496+88_496+89insTGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG (n.496+88_496+89insTGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG) c.529+88_529+89insTGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG (n.529+88_529+89insTGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG) c.403+88_403+89insTGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG (n.403+88_403+89insTGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG) n.605+88_605+89insTGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCTCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612677024 | USH1C | c.496+88_496+89insAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG (n.496+88_496+89insAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG) c.529+88_529+89insAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG (n.529+88_529+89insAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG) c.403+88_403+89insAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG (n.403+88_403+89insAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG) n.605+88_605+89insAGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAG | gnomAD v4 |
11 | g.17527136del | CA2612677033 | USH1C | c.496+87del (n.496+87del) c.529+87del (n.529+87del) c.403+87del (n.403+87del) n.605+87del | gnomAD v4 |
11 | g.17527136T>A | CA2574769522 | USH1C | c.496+87A>T (n.496+87A>T) c.529+87A>T (n.529+87A>T) c.403+87A>T (n.403+87A>T) n.605+87A>T | |
11 | g.17527136T>C | CA597668846 | USH1C | c.496+87A>G (n.496+87A>G) c.529+87A>G (n.529+87A>G) c.403+87A>G (n.403+87A>G) n.605+87A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527136T>G | CA597668847 | USH1C | c.496+87A>C (n.496+87A>C) c.529+87A>C (n.529+87A>C) c.403+87A>C (n.403+87A>C) n.605+87A>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527136T= | CA1955186971 | USH1C | c.496+87A= (n.496+87A=) c.529+87A= (n.529+87A=) c.403+87A= (n.403+87A=) n.605+87A= | |
11 | g.17527136_17527140del | CA2612677035 | USH1C | c.496+83_496+87del (n.496+83_496+87del) c.529+83_529+87del (n.529+83_529+87del) c.403+83_403+87del (n.403+83_403+87del) n.605+83_605+87del | gnomAD v4 |
11 | g.17527137C>A | CA2790594238 | USH1C | c.496+86G>T (n.496+86G>T) c.529+86G>T (n.529+86G>T) c.403+86G>T (n.403+86G>T) n.605+86G>T | |
11 | g.17527137C= | CA1955186972 | USH1C | c.496+86G= (n.496+86G=) c.529+86G= (n.529+86G=) c.403+86G= (n.403+86G=) n.605+86G= | |
11 | g.17527137C>T | CA674239558 | USH1C | c.496+86G>A (n.496+86G>A) c.529+86G>A (n.529+86G>A) c.403+86G>A (n.403+86G>A) n.605+86G>A | dbSNP |
11 | g.17527180_17527181insACCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCC | CA2612677037 | USH1C | c.496+86_496+87insTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.496+86_496+87insTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) c.529+86_529+87insTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.529+86_529+87insTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) c.403+86_403+87insTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.403+86_403+87insTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) n.605+86_605+87insTGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG | gnomAD v4 |
11 | g.17527180_17527181insCCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCC | CA2612677039 | USH1C | c.496+86_496+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.496+86_496+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) c.529+86_529+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.529+86_529+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) c.403+86_403+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.403+86_403+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) n.605+86_605+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG | gnomAD v4 |
11 | g.17527180_17527181insGCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCC | CA2612677041 | USH1C | c.496+86_496+87insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.496+86_496+87insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) c.529+86_529+87insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.529+86_529+87insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) c.403+86_403+87insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.403+86_403+87insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) n.605+86_605+87insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCCCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612677043 | USH1C | c.496+86_496+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.496+86_496+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) c.529+86_529+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.529+86_529+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) c.403+86_403+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.403+86_403+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) n.605+86_605+87insGGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG | gnomAD v4 |
11 | g.17527138C>A | CA2574769525 | USH1C | c.496+85G>T (n.496+85G>T) c.529+85G>T (n.529+85G>T) c.403+85G>T (n.403+85G>T) n.605+85G>T | |
11 | g.17527140_17527142del | CA2790594239 | USH1C | c.496+83_496+85del (n.496+83_496+85del) c.529+83_529+85del (n.529+83_529+85del) c.403+83_403+85del (n.403+83_403+85del) n.605+83_605+85del | |
11 | g.17527139C>A | CA2612677045 | USH1C | c.496+84G>T (n.496+84G>T) c.529+84G>T (n.529+84G>T) c.403+84G>T (n.403+84G>T) n.605+84G>T | gnomAD v4 |
11 | g.17527139_17527143del | CA2612677048 | USH1C | c.496+80_496+84del (n.496+80_496+84del) c.529+80_529+84del (n.529+80_529+84del) c.403+80_403+84del (n.403+80_403+84del) n.605+80_605+84del | gnomAD v4 |
11 | g.17527182_17527183insACACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTC | CA2612677049 | USH1C | c.496+84_496+85insTGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTG (n.496+84_496+85insTGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTG) c.529+84_529+85insTGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTG (n.529+84_529+85insTGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTG) c.403+84_403+85insTGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTG (n.403+84_403+85insTGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTG) n.605+84_605+85insTGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTG | gnomAD v4 |
11 | g.17527139_17527140insGGGGG | CA2612677059 | USH1C | c.496+83_496+84insCCCCC (n.496+83_496+84insCCCCC) c.529+83_529+84insCCCCC (n.529+83_529+84insCCCCC) c.403+83_403+84insCCCCC (n.403+83_403+84insCCCCC) n.605+83_605+84insCCCCC | gnomAD v4 |
11 | g.17527139_17527140insTGGGG | CA2612677067 | USH1C | c.496+83_496+84insCCCCA (n.496+83_496+84insCCCCA) c.529+83_529+84insCCCCA (n.529+83_529+84insCCCCA) c.403+83_403+84insCCCCA (n.403+83_403+84insCCCCA) n.605+83_605+84insCCCCA | gnomAD v4 |
11 | g.17527139_17527140insTGGGGA | CA2612677066 | USH1C | c.496+83_496+84insTCCCCA (n.496+83_496+84insTCCCCA) c.529+83_529+84insTCCCCA (n.529+83_529+84insTCCCCA) c.403+83_403+84insTCCCCA (n.403+83_403+84insTCCCCA) n.605+83_605+84insTCCCCA | gnomAD v4 |
11 | g.17527139_17527140insTGGGGG | CA2612677065 | USH1C | c.496+83_496+84insCCCCCA (n.496+83_496+84insCCCCCA) c.529+83_529+84insCCCCCA (n.529+83_529+84insCCCCCA) c.403+83_403+84insCCCCCA (n.403+83_403+84insCCCCCA) n.605+83_605+84insCCCCCA | gnomAD v4 |
11 | g.17527139_17527140insTGGGGGA | CA2612677064 | USH1C | c.496+83_496+84insTCCCCCA (n.496+83_496+84insTCCCCCA) c.529+83_529+84insTCCCCCA (n.529+83_529+84insTCCCCCA) c.403+83_403+84insTCCCCCA (n.403+83_403+84insTCCCCCA) n.605+83_605+84insTCCCCCA | gnomAD v4 |
11 | g.17527139_17527140insTGGGGGG | CA2612677063 | USH1C | c.496+83_496+84insCCCCCCA (n.496+83_496+84insCCCCCCA) c.529+83_529+84insCCCCCCA (n.529+83_529+84insCCCCCCA) c.403+83_403+84insCCCCCCA (n.403+83_403+84insCCCCCCA) n.605+83_605+84insCCCCCCA | gnomAD v4 |
11 | g.17527139_17527140insTTGGGGA | CA2612677062 | USH1C | c.496+83_496+84insTCCCCAA (n.496+83_496+84insTCCCCAA) c.529+83_529+84insTCCCCAA (n.529+83_529+84insTCCCCAA) c.403+83_403+84insTCCCCAA (n.403+83_403+84insTCCCCAA) n.605+83_605+84insTCCCCAA | gnomAD v4 |
11 | g.17527140del | CA2612677061 | USH1C | c.496+83del (n.496+83del) c.529+83del (n.529+83del) c.403+83del (n.403+83del) n.605+83del | gnomAD v4 |
11 | g.17527140A= | CA1955186973 | USH1C | c.496+83T= (n.496+83T=) c.529+83T= (n.529+83T=) c.403+83T= (n.403+83T=) n.605+83T= | |
11 | g.17527140A>C | CA597668853 | USH1C | c.496+83T>G (n.496+83T>G) c.529+83T>G (n.529+83T>G) c.403+83T>G (n.403+83T>G) n.605+83T>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527140A>G | CA2612677060 | USH1C | c.496+83T>C (n.496+83T>C) c.529+83T>C (n.529+83T>C) c.403+83T>C (n.403+83T>C) n.605+83T>C | gnomAD v4 |
11 | g.17527140A>T | CA597668850 | USH1C | c.496+83T>A (n.496+83T>A) c.529+83T>A (n.529+83T>A) c.403+83T>A (n.403+83T>A) n.605+83T>A | gnomAD v2 |
11 | g.17527140_17527141insAA | CA2612677074 | USH1C | c.496+83_496+84insTT (n.496+83_496+84insTT) c.529+83_529+84insTT (n.529+83_529+84insTT) c.403+83_403+84insTT (n.403+83_403+84insTT) n.605+83_605+84insTT | gnomAD v4 |
11 | g.17527140_17527141insAAA | CA2612677072 | USH1C | c.496+83_496+84insTTT (n.496+83_496+84insTTT) c.529+83_529+84insTTT (n.529+83_529+84insTTT) c.403+83_403+84insTTT (n.403+83_403+84insTTT) n.605+83_605+84insTTT | gnomAD v4 |
11 | g.17527140_17527141insGGGGA | CA2790594240 | USH1C | c.496+83_496+84insCCCCT (n.496+83_496+84insCCCCT) c.529+83_529+84insCCCCT (n.529+83_529+84insCCCCT) c.403+83_403+84insCCCCT (n.403+83_403+84insCCCCT) n.605+83_605+84insCCCCT | |
11 | g.17527140_17527141insAGGGGA | CA2612677070 | USH1C | c.496+83_496+84insCCCCTT (n.496+83_496+84insCCCCTT) c.529+83_529+84insCCCCTT (n.529+83_529+84insCCCCTT) c.403+83_403+84insCCCCTT (n.403+83_403+84insCCCCTT) n.605+83_605+84insCCCCTT | gnomAD v4 |
11 | g.17527140_17527141insGGGGGA | CA2612677068 | USH1C | c.496+83_496+84insCCCCCT (n.496+83_496+84insCCCCCT) c.529+83_529+84insCCCCCT (n.529+83_529+84insCCCCCT) c.403+83_403+84insCCCCCT (n.403+83_403+84insCCCCCT) n.605+83_605+84insCCCCCT | gnomAD v4 |
11 | g.17527140_17527141insAGGGGGAA | CA2612677069 | USH1C | c.496+83_496+84insTCCCCCTT (n.496+83_496+84insTCCCCCTT) c.529+83_529+84insTCCCCCTT (n.529+83_529+84insTCCCCCTT) c.403+83_403+84insTCCCCCTT (n.403+83_403+84insTCCCCCTT) n.605+83_605+84insTCCCCCTT | gnomAD v4 |
11 | g.17527140_17527156del | CA597668849 | USH1C | c.496+67_496+83del (n.496+67_496+83del) c.529+67_529+83del (n.529+67_529+83del) c.403+67_403+83del (n.403+67_403+83del) n.605+67_605+83del | gnomAD v2 |
11 | g.17527141C>A | CA2612677077 | USH1C | c.496+82G>T (n.496+82G>T) c.529+82G>T (n.529+82G>T) c.403+82G>T (n.403+82G>T) n.605+82G>T | gnomAD v4 |
11 | g.17527141C>G | CA2612677076 | USH1C | c.496+82G>C (n.496+82G>C) c.529+82G>C (n.529+82G>C) c.403+82G>C (n.403+82G>C) n.605+82G>C | gnomAD v4 |
11 | g.17527141_17527142del | CA2612677080 | USH1C | c.496+81_496+82del (n.496+81_496+82del) c.529+81_529+82del (n.529+81_529+82del) c.403+81_403+82del (n.403+81_403+82del) n.605+81_605+82del | gnomAD v4 |
11 | g.17527142del | CA2574769530 | USH1C | c.496+82del (n.496+82del) c.529+82del (n.529+82del) c.403+82del (n.403+82del) n.605+82del | gnomAD v4 |
11 | g.17527141_17527143delinsCCG | CA1955186975 | USH1C | c.496+80_496+82delinsCGG (n.496+80_496+82delinsCGG) c.529+80_529+82delinsCGG (n.529+80_529+82delinsCGG) c.403+80_403+82delinsCGG (n.403+80_403+82delinsCGG) n.605+80_605+82delinsCGG | |
11 | g.17527141_17527144delinsCCGT | CA1955186974 | USH1C | c.496+79_496+82delinsACGG (n.496+79_496+82delinsACGG) c.529+79_529+82delinsACGG (n.529+79_529+82delinsACGG) c.403+79_403+82delinsACGG (n.403+79_403+82delinsACGG) n.605+79_605+82delinsACGG | |
11 | g.17527142_17527145del | CA2612677081 | USH1C | c.496+79_496+82del (n.496+79_496+82del) c.529+79_529+82del (n.529+79_529+82del) c.403+79_403+82del (n.403+79_403+82del) n.605+79_605+82del | gnomAD v4 |
11 | g.17527143_17527159del | CA2592429717 | USH1C | c.496+66_496+82del (n.496+66_496+82del) c.529+66_529+82del (n.529+66_529+82del) c.403+66_403+82del (n.403+66_403+82del) n.605+66_605+82del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527143_17527166del | CA2790594244 | USH1C | c.496+59_496+82del (n.496+59_496+82del) c.529+59_529+82del (n.529+59_529+82del) c.403+59_403+82del (n.403+59_403+82del) n.605+59_605+82del | |
11 | g.17527143_17527171del | CA2612677079 | USH1C | c.496+54_496+82del (n.496+54_496+82del) c.529+54_529+82del (n.529+54_529+82del) c.403+54_403+82del (n.403+54_403+82del) n.605+54_605+82del | dbSNP gnomAD v4 |
11 | g.17527142_17527172del | CA2612677078 | USH1C | c.496+52_496+82del (n.496+52_496+82del) c.529+52_529+82del (n.529+52_529+82del) c.403+52_403+82del (n.403+52_403+82del) n.605+52_605+82del | gnomAD v4 |
11 | g.17527184_17527185insCCCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCC | CA2612677082 | USH1C | c.496+82_496+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG (n.496+82_496+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG) c.529+82_529+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG (n.529+82_529+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG) c.403+82_403+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG (n.403+82_403+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG) n.605+82_605+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCCCCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2554687777 | USH1C | c.496+82_496+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG (n.496+82_496+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG) c.529+82_529+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG (n.529+82_529+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG) c.403+82_403+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG (n.403+82_403+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG) n.605+82_605+83insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGG | |
11 | g.17527141_17527142insG | CA2612677084 | USH1C | c.496+81_496+82insC (n.496+81_496+82insC) c.529+81_529+82insC (n.529+81_529+82insC) c.403+81_403+82insC (n.403+81_403+82insC) n.605+81_605+82insC | gnomAD v4 |
11 | g.17527142C>A | CA2612677085 | USH1C | c.496+81G>T (n.496+81G>T) c.529+81G>T (n.529+81G>T) c.403+81G>T (n.403+81G>T) n.605+81G>T | gnomAD v4 |
11 | g.17527142C= | CA1955186976 | USH1C | c.496+81G= (n.496+81G=) c.529+81G= (n.529+81G=) c.403+81G= (n.403+81G=) n.605+81G= | |
11 | g.17527142C>G | CA1955186977 | USH1C | c.496+81G>C (n.496+81G>C) c.529+81G>C (n.529+81G>C) c.403+81G>C (n.403+81G>C) n.605+81G>C | dbSNP gnomAD v4 |
11 | g.17527142C>T | CA674239562 | USH1C | c.496+81G>A (n.496+81G>A) c.529+81G>A (n.529+81G>A) c.403+81G>A (n.403+81G>A) n.605+81G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527142_17527143del | CA935547448 | USH1C | c.496+80_496+81del (n.496+80_496+81del) c.529+80_529+81del (n.529+80_529+81del) c.403+80_403+81del (n.403+80_403+81del) n.605+80_605+81del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527143_17527145del | CA935547450 | USH1C | c.496+79_496+81del (n.496+79_496+81del) c.529+79_529+81del (n.529+79_529+81del) c.403+79_403+81del (n.403+79_403+81del) n.605+79_605+81del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527143G>A | CA597668856 | USH1C | c.496+80C>T (n.496+80C>T) c.529+80C>T (n.529+80C>T) c.403+80C>T (n.403+80C>T) n.605+80C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527143G>C | CA2612677089 | USH1C | c.496+80C>G (n.496+80C>G) c.529+80C>G (n.529+80C>G) c.403+80C>G (n.403+80C>G) n.605+80C>G | gnomAD v4 |
11 | g.17527143G= | CA1955186978 | USH1C | c.496+80C= (n.496+80C=) c.529+80C= (n.529+80C=) c.403+80C= (n.403+80C=) n.605+80C= | |
11 | g.17527143_17527144insGGG | CA2612677086 | USH1C | c.496+80_496+81insCCC (n.496+80_496+81insCCC) c.529+80_529+81insCCC (n.529+80_529+81insCCC) c.403+80_403+81insCCC (n.403+80_403+81insCCC) n.605+80_605+81insCCC | gnomAD v4 |
11 | g.17527143_17527144insGGGGG | CA2612677087 | USH1C | c.496+80_496+81insCCCCC (n.496+80_496+81insCCCCC) c.529+80_529+81insCCCCC (n.529+80_529+81insCCCCC) c.403+80_403+81insCCCCC (n.403+80_403+81insCCCCC) n.605+80_605+81insCCCCC | gnomAD v4 |
11 | g.17527186_17527187insAGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCAC | CA2612677088 | USH1C | c.496+80_496+81insTGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGAC (n.496+80_496+81insTGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGAC) c.529+80_529+81insTGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGAC (n.529+80_529+81insTGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGAC) c.403+80_403+81insTGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGAC (n.403+80_403+81insTGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGAC) n.605+80_605+81insTGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGAC | gnomAD v4 |
11 | g.17527144T>C | CA2612677091 | USH1C | c.496+79A>G (n.496+79A>G) c.529+79A>G (n.529+79A>G) c.403+79A>G (n.403+79A>G) n.605+79A>G | gnomAD v4 |
11 | g.17527144T>G | CA597668858 | USH1C | c.496+79A>C (n.496+79A>C) c.529+79A>C (n.529+79A>C) c.403+79A>C (n.403+79A>C) n.605+79A>C | dbSNP gnomAD v2 |
11 | g.17527144T= | CA1955186979 | USH1C | c.496+79A= (n.496+79A=) c.529+79A= (n.529+79A=) c.403+79A= (n.403+79A=) n.605+79A= | |
11 | g.17527144_17527177del | CA935547460 | USH1C | c.496+46_496+79del (n.496+46_496+79del) c.529+46_529+79del (n.529+46_529+79del) c.403+46_403+79del (n.403+46_403+79del) n.605+46_605+79del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527187_17527188insATCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACC | CA935547458 | USH1C | c.496+79_496+80insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA (n.496+79_496+80insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA) c.529+79_529+80insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA (n.529+79_529+80insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA) c.403+79_403+80insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA (n.403+79_403+80insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA) n.605+79_605+80insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA | gnomAD v3 gnomAD v4 |
11 | g.17527145_17527187del | CA935547470 | USH1C | c.496+36_496+78del (n.496+36_496+78del) c.529+36_529+78del (n.529+36_529+78del) c.403+36_403+78del (n.403+36_403+78del) n.605+36_605+78del | gnomAD v3 gnomAD v4 |
11 | g.17527188_17527189insGCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCG | CA2612677092 | USH1C | c.496+78_496+79insCCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATG (n.496+78_496+79insCCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATG) c.529+78_529+79insCCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATG (n.529+78_529+79insCCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATG) c.403+78_403+79insCCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATG (n.403+78_403+79insCCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATG) n.605+78_605+79insCCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATG | gnomAD v4 |
11 | g.17527146A= | CA1955186982 | USH1C | c.496+77T= (n.496+77T=) c.529+77T= (n.529+77T=) c.403+77T= (n.403+77T=) n.605+77T= | |
11 | g.17527146A>C | CA1955186981 | USH1C | c.496+77T>G (n.496+77T>G) c.529+77T>G (n.529+77T>G) c.403+77T>G (n.403+77T>G) n.605+77T>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527146A>G | CA674239567 | USH1C | c.496+77T>C (n.496+77T>C) c.529+77T>C (n.529+77T>C) c.403+77T>C (n.403+77T>C) n.605+77T>C | dbSNP |
11 | g.17527146_17527147del | CA935547474 | USH1C | c.496+76_496+77del (n.496+76_496+77del) c.529+76_529+77del (n.529+76_529+77del) c.403+76_403+77del (n.403+76_403+77del) n.605+76_605+77del | gnomAD v3 gnomAD v4 |
11 | g.17527147_17527153del | CA2612677093 | USH1C | c.496+71_496+77del (n.496+71_496+77del) c.529+71_529+77del (n.529+71_529+77del) c.403+71_403+77del (n.403+71_403+77del) n.605+71_605+77del | gnomAD v4 |
11 | g.17527146_17527188delinsATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCG | CA1955186980 | USH1C | c.496+35_496+77delinsCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCAT (n.496+35_496+77delinsCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCAT) c.529+35_529+77delinsCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCAT (n.529+35_529+77delinsCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCAT) c.403+35_403+77delinsCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCAT (n.403+35_403+77delinsCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCAT) n.605+35_605+77delinsCGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCAT | |
11 | g.17527147T>C | CA1955186984 | USH1C | c.496+76A>G (n.496+76A>G) c.529+76A>G (n.529+76A>G) c.403+76A>G (n.403+76A>G) n.605+76A>G | dbSNP gnomAD v4 |
11 | g.17527147T>G | CA2790594257 | USH1C | c.496+76A>C (n.496+76A>C) c.529+76A>C (n.529+76A>C) c.403+76A>C (n.403+76A>C) n.605+76A>C | |
11 | g.17527147T= | CA1955186983 | USH1C | c.496+76A= (n.496+76A=) c.529+76A= (n.529+76A=) c.403+76A= (n.403+76A=) n.605+76A= | |
11 | g.17527147_17527171del | CA2790594256 | USH1C | c.496+52_496+76del (n.496+52_496+76del) c.529+52_529+76del (n.529+52_529+76del) c.403+52_403+76del (n.403+52_403+76del) n.605+52_605+76del | |
11 | g.17527147_17527187del | CA2612677097 | USH1C | c.496+36_496+76del (n.496+36_496+76del) c.529+36_529+76del (n.529+36_529+76del) c.403+36_403+76del (n.403+36_403+76del) n.605+36_605+76del | gnomAD v4 |
11 | g.17527148_17527189del | CA935547475 | USH1C | c.496+35_496+76del (n.496+35_496+76del) c.529+35_529+76del (n.529+35_529+76del) c.403+35_403+76del (n.403+35_403+76del) n.605+35_605+76del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527190_17527191insCTGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTC | CA2612677096 | USH1C | c.496+76_496+77insGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA (n.496+76_496+77insGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA) c.529+76_529+77insGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA (n.529+76_529+77insGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA) c.403+76_403+77insGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA (n.403+76_403+77insGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA) n.605+76_605+77insGGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCGTGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612677095 | USH1C | c.496+76_496+77insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA (n.496+76_496+77insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA) c.529+76_529+77insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA (n.529+76_529+77insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA) c.403+76_403+77insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA (n.403+76_403+77insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA) n.605+76_605+77insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA | gnomAD v4 |
11 | g.17527148G>T | CA1139768483 | USH1C | c.496+75C>A (n.496+75C>A) c.529+75C>A (n.529+75C>A) c.403+75C>A (n.403+75C>A) n.605+75C>A | |
11 | g.17527148_17527151del | CA2612677099 | USH1C | c.496+72_496+75del (n.496+72_496+75del) c.529+72_529+75del (n.529+72_529+75del) c.403+72_403+75del (n.403+72_403+75del) n.605+72_605+75del | gnomAD v4 |
11 | g.17527148_17527190dup | CA918828309 | USH1C | c.496+33_496+75dup (n.496+33_496+75dup) c.529+33_529+75dup (n.529+33_529+75dup) c.403+33_403+75dup (n.403+33_403+75dup) n.605+33_605+75dup | dbSNP |
11 | g.17527191_17527192insGGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCA | CA2612677098 | USH1C | c.496+75_496+76insCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCC (n.496+75_496+76insCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCC) c.529+75_529+76insCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCC (n.529+75_529+76insCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCC) c.403+75_403+76insCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCC (n.403+75_403+76insCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCC) n.605+75_605+76insCTGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCC | gnomAD v4 |
11 | g.17527149_17527212del | CA935547476 | USH1C | c.496+12_496+75del (n.496+12_496+75del) c.529+12_529+75del (n.529+12_529+75del) c.403+12_403+75del (n.403+12_403+75del) n.605+12_605+75del | gnomAD v3 gnomAD v4 |
11 | g.17527149G>T | CA2612677100 | USH1C | c.496+74C>A (n.496+74C>A) c.529+74C>A (n.529+74C>A) c.403+74C>A (n.403+74C>A) n.605+74C>A | gnomAD v4 |
11 | g.17527149_17527191del | CA935547479 | USH1C | c.496+32_496+74del (n.496+32_496+74del) c.529+32_529+74del (n.529+32_529+74del) c.403+32_403+74del (n.403+32_403+74del) n.605+32_605+74del | gnomAD v3 gnomAD v4 |
11 | g.17527192_17527193insTGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCAT | CA2612677101 | USH1C | c.496+74_496+75insAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTC (n.496+74_496+75insAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTC) c.529+74_529+75insAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTC (n.529+74_529+75insAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTC) c.403+74_403+75insAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTC (n.403+74_403+75insAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTC) n.605+74_605+75insAATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTC | gnomAD v4 |
11 | g.17527150A>T | CA2790594258 | USH1C | c.496+73T>A (n.496+73T>A) c.529+73T>A (n.529+73T>A) c.403+73T>A (n.403+73T>A) n.605+73T>A | |
11 | g.17527150_17527195del | CA2612677102 | USH1C | c.496+28_496+73del (n.496+28_496+73del) c.529+28_529+73del (n.529+28_529+73del) c.403+28_403+73del (n.403+28_403+73del) n.605+28_605+73del | gnomAD v4 |
11 | g.17527151G>A | CA2612677103 | USH1C | c.496+72C>T (n.496+72C>T) c.529+72C>T (n.529+72C>T) c.403+72C>T (n.403+72C>T) n.605+72C>T | gnomAD v4 |
11 | g.17527151G>C | CA2612677104 | USH1C | c.496+72C>G (n.496+72C>G) c.529+72C>G (n.529+72C>G) c.403+72C>G (n.403+72C>G) n.605+72C>G | gnomAD v4 |
11 | g.17527151G>T | CA2574769536 | USH1C | c.496+72C>A (n.496+72C>A) c.529+72C>A (n.529+72C>A) c.403+72C>A (n.403+72C>A) n.605+72C>A | |
11 | g.17527151_17527163del | CA2790594259 | USH1C | c.496+60_496+72del (n.496+60_496+72del) c.529+60_529+72del (n.529+60_529+72del) c.403+60_403+72del (n.403+60_403+72del) n.605+60_605+72del | |
11 | g.17527152T>G | CA597668861 | USH1C | c.496+71A>C (n.496+71A>C) c.529+71A>C (n.529+71A>C) c.403+71A>C (n.403+71A>C) n.605+71A>C | dbSNP gnomAD v2 |
11 | g.17527152T= | CA1955186985 | USH1C | c.496+71A= (n.496+71A=) c.529+71A= (n.529+71A=) c.403+71A= (n.403+71A=) n.605+71A= | |
11 | g.17527153_17527177del | CA2790594261 | USH1C | c.496+47_496+71del (n.496+47_496+71del) c.529+47_529+71del (n.529+47_529+71del) c.403+47_403+71del (n.403+47_403+71del) n.605+47_605+71del | |
11 | g.17527153_17527181del | CA2790594260 | USH1C | c.496+43_496+71del (n.496+43_496+71del) c.529+43_529+71del (n.529+43_529+71del) c.403+43_403+71del (n.403+43_403+71del) n.605+43_605+71del | |
11 | g.17527152_17527187del | CA2723302927 | USH1C | c.496+36_496+71del (n.496+36_496+71del) c.529+36_529+71del (n.529+36_529+71del) c.403+36_403+71del (n.403+36_403+71del) n.605+36_605+71del | dbSNP |
11 | g.17527153A>T | CA597668863 | USH1C | c.496+70T>A (n.496+70T>A) c.529+70T>A (n.529+70T>A) c.403+70T>A (n.403+70T>A) n.605+70T>A | gnomAD v2 |
11 | g.17527153_17527172del | CA2790594262 | USH1C | c.496+51_496+70del (n.496+51_496+70del) c.529+51_529+70del (n.529+51_529+70del) c.403+51_403+70del (n.403+51_403+70del) n.605+51_605+70del | |
11 | g.17527153_17527175del | CA2790594263 | USH1C | c.496+48_496+70del (n.496+48_496+70del) c.529+48_529+70del (n.529+48_529+70del) c.403+48_403+70del (n.403+48_403+70del) n.605+48_605+70del | |
11 | g.17527154del | CA2612677105 | USH1C | c.496+69del (n.496+69del) c.529+69del (n.529+69del) c.403+69del (n.403+69del) n.605+69del | gnomAD v4 |
11 | g.17527154C>G | CA2612677108 | USH1C | c.496+69G>C (n.496+69G>C) c.529+69G>C (n.529+69G>C) c.403+69G>C (n.403+69G>C) n.605+69G>C | gnomAD v4 |
11 | g.17527154C>T | CA2574769537 | USH1C | c.496+69G>A (n.496+69G>A) c.529+69G>A (n.529+69G>A) c.403+69G>A (n.403+69G>A) n.605+69G>A | gnomAD v4 |
11 | g.17527154_17527155del | CA2612677106 | USH1C | c.496+68_496+69del (n.496+68_496+69del) c.529+68_529+69del (n.529+68_529+69del) c.403+68_403+69del (n.403+68_403+69del) n.605+68_605+69del | gnomAD v4 |
11 | g.17527155_17527158del | CA2612677107 | USH1C | c.496+66_496+69del (n.496+66_496+69del) c.529+66_529+69del (n.529+66_529+69del) c.403+66_403+69del (n.403+66_403+69del) n.605+66_605+69del | gnomAD v4 |
11 | g.17527155T>C | CA2612677111 | USH1C | c.496+68A>G (n.496+68A>G) c.529+68A>G (n.529+68A>G) c.403+68A>G (n.403+68A>G) n.605+68A>G | gnomAD v4 |
11 | g.17527155T>G | CA2790594264 | USH1C | c.496+68A>C (n.496+68A>C) c.529+68A>C (n.529+68A>C) c.403+68A>C (n.403+68A>C) n.605+68A>C | |
11 | g.17527155_17527169delinsTGCCCTGCTCCCCCG | CA1955186986 | USH1C | c.496+54_496+68delinsCGGGGGAGCAGGGCA (n.496+54_496+68delinsCGGGGGAGCAGGGCA) c.529+54_529+68delinsCGGGGGAGCAGGGCA (n.529+54_529+68delinsCGGGGGAGCAGGGCA) c.403+54_403+68delinsCGGGGGAGCAGGGCA (n.403+54_403+68delinsCGGGGGAGCAGGGCA) n.605+54_605+68delinsCGGGGGAGCAGGGCA | |
11 | g.17527155_17527192del | CA2612677110 | USH1C | c.496+31_496+68del (n.496+31_496+68del) c.529+31_529+68del (n.529+31_529+68del) c.403+31_403+68del (n.403+31_403+68del) n.605+31_605+68del | gnomAD v4 |
11 | g.17527156G>C | CA674239572 | USH1C | c.496+67C>G (n.496+67C>G) c.529+67C>G (n.529+67C>G) c.403+67C>G (n.403+67C>G) n.605+67C>G | dbSNP |
11 | g.17527156G= | CA1955186987 | USH1C | c.496+67C= (n.496+67C=) c.529+67C= (n.529+67C=) c.403+67C= (n.403+67C=) n.605+67C= | |
11 | g.17527156_17527169del | CA597668864 | USH1C | c.496+54_496+67del (n.496+54_496+67del) c.529+54_529+67del (n.529+54_529+67del) c.403+54_403+67del (n.403+54_403+67del) n.605+54_605+67del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527156_17527199del | CA2612677113 | USH1C | c.496+24_496+67del (n.496+24_496+67del) c.529+24_529+67del (n.529+24_529+67del) c.403+24_403+67del (n.403+24_403+67del) n.605+24_605+67del | gnomAD v4 |
11 | g.17527199_17527200insGGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTAC | CA2612677115 | USH1C | c.496+67_496+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC (n.496+67_496+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC) c.529+67_529+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC (n.529+67_529+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC) c.403+67_403+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC (n.403+67_403+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC) n.605+67_605+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACGGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612677114 | USH1C | c.496+67_496+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC (n.496+67_496+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC) c.529+67_529+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC (n.529+67_529+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC) c.403+67_403+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC (n.403+67_403+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC) n.605+67_605+68insCGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGC | gnomAD v4 |
11 | g.17527156_17527157insA | CA2612677116 | USH1C | c.496+66_496+67insT (n.496+66_496+67insT) c.529+66_529+67insT (n.529+66_529+67insT) c.403+66_403+67insT (n.403+66_403+67insT) n.605+66_605+67insT | gnomAD v4 |
11 | g.17527157C>A | CA218461508 | USH1C | c.496+66G>T (n.496+66G>T) c.529+66G>T (n.529+66G>T) c.403+66G>T (n.403+66G>T) n.605+66G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527157C= | CA1630848614 | USH1C | c.496+66G= (n.496+66G=) c.529+66G= (n.529+66G=) c.403+66G= (n.403+66G=) n.605+66G= | |
11 | g.17527157C>G | CA1955186989 | USH1C | c.496+66G>C (n.496+66G>C) c.529+66G>C (n.529+66G>C) c.403+66G>C (n.403+66G>C) n.605+66G>C | dbSNP |
11 | g.17527157C>T | CA1955186988 | USH1C | c.496+66G>A (n.496+66G>A) c.529+66G>A (n.529+66G>A) c.403+66G>A (n.403+66G>A) n.605+66G>A | dbSNP gnomAD v4 |
11 | g.17527157_17527184del | CA2612677117 | USH1C | c.496+39_496+66del (n.496+39_496+66del) c.529+39_529+66del (n.529+39_529+66del) c.403+39_403+66del (n.403+39_403+66del) n.605+39_605+66del | dbSNP gnomAD v4 |
11 | g.17527157_17527199del | CA2612677118 | USH1C | c.496+24_496+66del (n.496+24_496+66del) c.529+24_529+66del (n.529+24_529+66del) c.403+24_403+66del (n.403+24_403+66del) n.605+24_605+66del | gnomAD v4 |
11 | g.17527158C>A | CA597668867 | USH1C | c.496+65G>T (n.496+65G>T) c.529+65G>T (n.529+65G>T) c.403+65G>T (n.403+65G>T) n.605+65G>T | gnomAD v2 gnomAD v4 |
11 | g.17527158C>T | CA2612677122 | USH1C | c.496+65G>A (n.496+65G>A) c.529+65G>A (n.529+65G>A) c.403+65G>A (n.403+65G>A) n.605+65G>A | gnomAD v4 |
11 | g.17527158_17527159insTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGAC | CA2612677121 | USH1C | c.496+65_496+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAG (n.496+65_496+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAG) c.529+65_529+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAG (n.529+65_529+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAG) c.403+65_403+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAG (n.403+65_403+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAG) n.605+65_605+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAG | gnomAD v4 |
11 | g.17527190_17527191insGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTC | CA918828311 | USH1C | c.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.496+65_496+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.529+65_529+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.529+65_529+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.403+65_403+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.403+65_403+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.605+65_605+66insTCAGTACTCCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | dbSNP |
11 | g.17527201_17527202insACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTG | CA2612677120 | USH1C | c.496+65_496+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.496+65_496+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.529+65_529+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.529+65_529+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) c.403+65_403+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG (n.403+65_403+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG) n.605+65_605+66insTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG | gnomAD v4 |
11 | g.17527159C= | CA1955186991 | USH1C | c.496+64G= (n.496+64G=) c.529+64G= (n.529+64G=) c.403+64G= (n.403+64G=) n.605+64G= | |
11 | g.17527159C>T | CA1955186990 | USH1C | c.496+64G>A (n.496+64G>A) c.529+64G>A (n.529+64G>A) c.403+64G>A (n.403+64G>A) n.605+64G>A | dbSNP gnomAD v4 |
11 | g.17527160T>A | CA597668868 | USH1C | c.496+63A>T (n.496+63A>T) c.529+63A>T (n.529+63A>T) c.403+63A>T (n.403+63A>T) n.605+63A>T | gnomAD v2 gnomAD v4 |
11 | g.17527160T>C | CA1955186993 | USH1C | c.496+63A>G (n.496+63A>G) c.529+63A>G (n.529+63A>G) c.403+63A>G (n.403+63A>G) n.605+63A>G | dbSNP |
11 | g.17527160T>G | CA597668869 | USH1C | c.496+63A>C (n.496+63A>C) c.529+63A>C (n.529+63A>C) c.403+63A>C (n.403+63A>C) n.605+63A>C | gnomAD v2 gnomAD v4 |
11 | g.17527160T= | CA1955186992 | USH1C | c.496+63A= (n.496+63A=) c.529+63A= (n.529+63A=) c.403+63A= (n.403+63A=) n.605+63A= | |
11 | g.17527160_17527161del | CA2612677123 | USH1C | c.496+62_496+63del (n.496+62_496+63del) c.529+62_529+63del (n.529+62_529+63del) c.403+62_403+63del (n.403+62_403+63del) n.605+62_605+63del | gnomAD v4 |
11 | g.17527160_17527163del | CA2790594268 | USH1C | c.496+60_496+63del (n.496+60_496+63del) c.529+60_529+63del (n.529+60_529+63del) c.403+60_403+63del (n.403+60_403+63del) n.605+60_605+63del | |
11 | g.17527161G>A | CA2574769542 | USH1C | c.496+62C>T (n.496+62C>T) c.529+62C>T (n.529+62C>T) c.403+62C>T (n.403+62C>T) n.605+62C>T | |
11 | g.17527161_17527184del | CA2612677124 | USH1C | c.496+39_496+62del (n.496+39_496+62del) c.529+39_529+62del (n.529+39_529+62del) c.403+39_403+62del (n.403+39_403+62del) n.605+39_605+62del | gnomAD v4 |
11 | g.17527204_17527205insGGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCC | CA2612677125 | USH1C | c.496+62_496+63insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.496+62_496+63insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.529+62_529+63insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.529+62_529+63insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.403+62_403+63insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.403+62_403+63insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.605+62_605+63insCGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | gnomAD v4 |
11 | g.17527162C= | CA1955186994 | USH1C | c.496+61G= (n.496+61G=) c.529+61G= (n.529+61G=) c.403+61G= (n.403+61G=) n.605+61G= | |
11 | g.17527162C>G | CA2574769543 | USH1C | c.496+61G>C (n.496+61G>C) c.529+61G>C (n.529+61G>C) c.403+61G>C (n.403+61G>C) n.605+61G>C | |
11 | g.17527162C>T | CA935547487 | USH1C | c.496+61G>A (n.496+61G>A) c.529+61G>A (n.529+61G>A) c.403+61G>A (n.403+61G>A) n.605+61G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527162_17527163insCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCCACCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCC | CA1139624376 | USH1C | c.496+61_496+62insGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGTGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGG (n.496+61_496+62insGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGTGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGG) c.529+61_529+62insGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGTGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGG (n.529+61_529+62insGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGTGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGG) c.403+61_403+62insGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGTGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGG (n.403+61_403+62insGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGTGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGG) n.605+61_605+62insGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGGTGGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGG | |
11 | g.17527163T>A | CA1955186997 | USH1C | c.496+60A>T (n.496+60A>T) c.529+60A>T (n.529+60A>T) c.403+60A>T (n.403+60A>T) n.605+60A>T | dbSNP |
11 | g.17527163T>C | CA674239580 | USH1C | c.496+60A>G (n.496+60A>G) c.529+60A>G (n.529+60A>G) c.403+60A>G (n.403+60A>G) n.605+60A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527163T= | CA1955186996 | USH1C | c.496+60A= (n.496+60A=) c.529+60A= (n.529+60A=) c.403+60A= (n.403+60A=) n.605+60A= | |
11 | g.17527163_17527166delinsTCCC | CA1955186995 | USH1C | c.496+57_496+60delinsGGGA (n.496+57_496+60delinsGGGA) c.529+57_529+60delinsGGGA (n.529+57_529+60delinsGGGA) c.403+57_403+60delinsGGGA (n.403+57_403+60delinsGGGA) n.605+57_605+60delinsGGGA | |
11 | g.17527163_17527205del | CA2612677128 | USH1C | c.496+18_496+60del (n.496+18_496+60del) c.529+18_529+60del (n.529+18_529+60del) c.403+18_403+60del (n.403+18_403+60del) n.605+18_605+60del | gnomAD v4 |
11 | g.17527206_17527207insTTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTG | CA2612677127 | USH1C | c.496+60_496+61insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.496+60_496+61insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) c.529+60_529+61insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.529+60_529+61insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) c.403+60_403+61insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA (n.403+60_403+61insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA) n.605+60_605+61insACAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGA | gnomAD v4 |
11 | g.17527164C>A | CA2612677129 | USH1C | c.496+59G>T (n.496+59G>T) c.529+59G>T (n.529+59G>T) c.403+59G>T (n.403+59G>T) n.605+59G>T | gnomAD v4 |
11 | g.17527164C= | CA1955186998 | USH1C | c.496+59G= (n.496+59G=) c.529+59G= (n.529+59G=) c.403+59G= (n.403+59G=) n.605+59G= | |
11 | g.17527164C>G | CA218461513 | USH1C | c.496+59G>C (n.496+59G>C) c.529+59G>C (n.529+59G>C) c.403+59G>C (n.403+59G>C) n.605+59G>C | dbSNP |
11 | g.17527164C>T | CA1955186999 | USH1C | c.496+59G>A (n.496+59G>A) c.529+59G>A (n.529+59G>A) c.403+59G>A (n.403+59G>A) n.605+59G>A | dbSNP |
11 | g.17527166_17527168del | CA597668871 | USH1C | c.496+57_496+59del (n.496+57_496+59del) c.529+57_529+59del (n.529+57_529+59del) c.403+57_403+59del (n.403+57_403+59del) n.605+57_605+59del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527164_17527165insTGG | CA935547491 | USH1C | c.496+58_496+59insCCA (n.496+58_496+59insCCA) c.529+58_529+59insCCA (n.529+58_529+59insCCA) c.403+58_403+59insCCA (n.403+58_403+59insCCA) n.605+58_605+59insCCA | gnomAD v3 gnomAD v4 |
11 | g.17527165C= | CA1955187000 | USH1C | c.496+58G= (n.496+58G=) c.529+58G= (n.529+58G=) c.403+58G= (n.403+58G=) n.605+58G= | |
11 | g.17527165C>T | CA1955187001 | USH1C | c.496+58G>A (n.496+58G>A) c.529+58G>A (n.529+58G>A) c.403+58G>A (n.403+58G>A) n.605+58G>A | dbSNP |
11 | g.17527166C= | CA1955187002 | USH1C | c.496+57G= (n.496+57G=) c.529+57G= (n.529+57G=) c.403+57G= (n.403+57G=) n.605+57G= | |
11 | g.17527166C>T | CA1955187003 | USH1C | c.496+57G>A (n.496+57G>A) c.529+57G>A (n.529+57G>A) c.403+57G>A (n.403+57G>A) n.605+57G>A | dbSNP |
11 | g.17527166_17527210del | CA2612677130 | USH1C | c.496+13_496+57del (n.496+13_496+57del) c.529+13_529+57del (n.529+13_529+57del) c.403+13_403+57del (n.403+13_403+57del) n.605+13_605+57del | gnomAD v4 |
11 | g.17527167C>T | CA2574769546 | USH1C | c.496+56G>A (n.496+56G>A) c.529+56G>A (n.529+56G>A) c.403+56G>A (n.403+56G>A) n.605+56G>A | |
11 | g.17527168C>A | CA2612677131 | USH1C | c.496+55G>T (n.496+55G>T) c.529+55G>T (n.529+55G>T) c.403+55G>T (n.403+55G>T) n.605+55G>T | gnomAD v4 |
11 | g.17527168C= | CA1955187004 | USH1C | c.496+55G= (n.496+55G=) c.529+55G= (n.529+55G=) c.403+55G= (n.403+55G=) n.605+55G= | |
11 | g.17527168C>T | CA218461519 | USH1C | c.496+55G>A (n.496+55G>A) c.529+55G>A (n.529+55G>A) c.403+55G>A (n.403+55G>A) n.605+55G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527169G>A | CA674239584 | USH1C | c.496+54C>T (n.496+54C>T) c.529+54C>T (n.529+54C>T) c.403+54C>T (n.403+54C>T) n.605+54C>T | dbSNP gnomAD v4 |
11 | g.17527169G>C | CA597668872 | USH1C | c.496+54C>G (n.496+54C>G) c.529+54C>G (n.529+54C>G) c.403+54C>G (n.403+54C>G) n.605+54C>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527169G= | CA1955187005 | USH1C | c.496+54C= (n.496+54C=) c.529+54C= (n.529+54C=) c.403+54C= (n.403+54C=) n.605+54C= | |
11 | g.17527169G>T | CA1955187006 | USH1C | c.496+54C>A (n.496+54C>A) c.529+54C>A (n.529+54C>A) c.403+54C>A (n.403+54C>A) n.605+54C>A | dbSNP gnomAD v4 |
11 | g.17527209_17527210insCCCTGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2790594270 | USH1C | c.496+54_496+55insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.496+54_496+55insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) c.529+54_529+55insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.529+54_529+55insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) c.403+54_403+55insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC (n.403+54_403+55insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC) n.605+54_605+55insAGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC | |
11 | g.17527170C>G | CA597668875 | USH1C | c.496+53G>C (n.496+53G>C) c.529+53G>C (n.529+53G>C) c.403+53G>C (n.403+53G>C) n.605+53G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527170C>T | CA2612677132 | USH1C | c.496+53G>A (n.496+53G>A) c.529+53G>A (n.529+53G>A) c.403+53G>A (n.403+53G>A) n.605+53G>A | gnomAD v4 |
11 | g.17527170_17527171insACTC | CA1955187007 | USH1C | c.496+53_496+54insAGTG (n.496+53_496+54insAGTG) c.529+53_529+54insAGTG (n.529+53_529+54insAGTG) c.403+53_403+54insAGTG (n.403+53_403+54insAGTG) n.605+53_605+54insAGTG | dbSNP |
11 | g.17527177_17527184dup | CA674239588 | USH1C | c.496+46_496+53dup (n.496+46_496+53dup) c.529+46_529+53dup (n.529+46_529+53dup) c.403+46_403+53dup (n.403+46_403+53dup) n.605+46_605+53dup | dbSNP |
11 | g.17527181_17527184del | CA2574769548 | USH1C | c.496+50_496+53del (n.496+50_496+53del) c.529+50_529+53del (n.529+50_529+53del) c.403+50_403+53del (n.403+50_403+53del) n.605+50_605+53del | gnomAD v4 |
11 | g.17527171C>A | CA1955187009 | USH1C | c.496+52G>T (n.496+52G>T) c.529+52G>T (n.529+52G>T) c.403+52G>T (n.403+52G>T) n.605+52G>T | dbSNP |
11 | g.17527171C= | CA1955187008 | USH1C | c.496+52G= (n.496+52G=) c.529+52G= (n.529+52G=) c.403+52G= (n.403+52G=) n.605+52G= | |
11 | g.17527171C>T | CA1955187010 | USH1C | c.496+52G>A (n.496+52G>A) c.529+52G>A (n.529+52G>A) c.403+52G>A (n.403+52G>A) n.605+52G>A | dbSNP |
11 | g.17527172C>A | CA2790594272 | USH1C | c.496+51G>T (n.496+51G>T) c.529+51G>T (n.529+51G>T) c.403+51G>T (n.403+51G>T) n.605+51G>T | |
11 | g.17527172C>T | CA2508528879 | USH1C | c.496+51G>A (n.496+51G>A) c.529+51G>A (n.529+51G>A) c.403+51G>A (n.403+51G>A) n.605+51G>A | |
11 | g.17527173T>C | CA5905014 | USH1C | c.496+50A>G (n.496+50A>G) c.529+50A>G (n.529+50A>G) c.403+50A>G (n.403+50A>G) n.605+50A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17527173T>G | CA2574769549 | USH1C | c.496+50A>C (n.496+50A>C) c.529+50A>C (n.529+50A>C) c.403+50A>C (n.403+50A>C) n.605+50A>C | gnomAD v4 |
11 | g.17527173T= | CA1955187011 | USH1C | c.496+50A= (n.496+50A=) c.529+50A= (n.529+50A=) c.403+50A= (n.403+50A=) n.605+50A= | |
11 | g.17527174C>A | CA597668881 | USH1C | c.496+49G>T (n.496+49G>T) c.529+49G>T (n.529+49G>T) c.403+49G>T (n.403+49G>T) n.605+49G>T | dbSNP gnomAD v2 |
11 | g.17527174C= | CA1955187013 | USH1C | c.496+49G= (n.496+49G=) c.529+49G= (n.529+49G=) c.403+49G= (n.403+49G=) n.605+49G= | |
11 | g.17527174C>T | CA1955187012 | USH1C | c.496+49G>A (n.496+49G>A) c.529+49G>A (n.529+49G>A) c.403+49G>A (n.403+49G>A) n.605+49G>A | dbSNP gnomAD v4 |
11 | g.17527176del | CA2574769551 | USH1C | c.496+49del (n.496+49del) c.529+49del (n.529+49del) c.403+49del (n.403+49del) n.605+49del | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612677135 | USH1C | c.496+49_496+50insCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.496+49_496+50insCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) c.529+49_529+50insCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.529+49_529+50insCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) c.403+49_403+50insCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.403+49_403+50insCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) n.605+49_605+50insCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG | gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCGCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612677137 | USH1C | c.496+49_496+50insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.496+49_496+50insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) c.529+49_529+50insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.529+49_529+50insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) c.403+49_403+50insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG (n.403+49_403+50insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG) n.605+49_605+50insCGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGG | gnomAD v4 |
11 | g.17527175C>A | CA5905015 | USH1C | c.496+48G>T (n.496+48G>T) c.529+48G>T (n.529+48G>T) c.403+48G>T (n.403+48G>T) n.605+48G>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
11 | g.17527175C= | CA1955187014 | USH1C | c.496+48G= (n.496+48G=) c.529+48G= (n.529+48G=) c.403+48G= (n.403+48G=) n.605+48G= | |
11 | g.17527175C>T | CA5905016 | USH1C | c.496+48G>A (n.496+48G>A) c.529+48G>A (n.529+48G>A) c.403+48G>A (n.403+48G>A) n.605+48G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17527176C>A | CA5905017 | USH1C | c.496+47G>T (n.496+47G>T) c.529+47G>T (n.529+47G>T) c.403+47G>T (n.403+47G>T) n.605+47G>T | dbSNP ExAC |
11 | g.17527176C= | CA1955187015 | USH1C | c.496+47G= (n.496+47G=) c.529+47G= (n.529+47G=) c.403+47G= (n.403+47G=) n.605+47G= | |
11 | g.17527176C>T | CA597668883 | USH1C | c.496+47G>A (n.496+47G>A) c.529+47G>A (n.529+47G>A) c.403+47G>A (n.403+47G>A) n.605+47G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527179_17527220del | CA935547498 | USH1C | c.496+6_496+47del (n.496+6_496+47del) c.529+6_529+47del (n.529+6_529+47del) c.403+6_403+47del (n.403+6_403+47del) n.605+6_605+47del | gnomAD v3 gnomAD v4 |
11 | g.17527177T>C | CA5905018 | USH1C | c.496+46A>G (n.496+46A>G) c.529+46A>G (n.529+46A>G) c.403+46A>G (n.403+46A>G) n.605+46A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17527177T>G | CA218461549 | USH1C | c.496+46A>C (n.496+46A>C) c.529+46A>C (n.529+46A>C) c.403+46A>C (n.403+46A>C) n.605+46A>C | dbSNP gnomAD v4 |
11 | g.17527177T= | CA1955187016 | USH1C | c.496+46A= (n.496+46A=) c.529+46A= (n.529+46A=) c.403+46A= (n.403+46A=) n.605+46A= | |
11 | g.17527178C>A | CA2790594273 | USH1C | c.496+45G>T (n.496+45G>T) c.529+45G>T (n.529+45G>T) c.403+45G>T (n.403+45G>T) n.605+45G>T | |
11 | g.17527178C= | CA1955187017 | USH1C | c.496+45G= (n.496+45G=) c.529+45G= (n.529+45G=) c.403+45G= (n.403+45G=) n.605+45G= | |
11 | g.17527178C>G | CA5905019 | USH1C | c.496+45G>C (n.496+45G>C) c.529+45G>C (n.529+45G>C) c.403+45G>C (n.403+45G>C) n.605+45G>C | dbSNP ExAC |
11 | g.17527178C>T | CA935547514 | USH1C | c.496+45G>A (n.496+45G>A) c.529+45G>A (n.529+45G>A) c.403+45G>A (n.403+45G>A) n.605+45G>A | gnomAD v3 gnomAD v4 |
11 | g.17527209_17527210insCCCCGCCCTCCCCCCCTCCCACCGTCATGGAGTACTGCCCTGCTC | CA2612677142 | USH1C | c.496+45_496+46insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.496+45_496+46insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) c.529+45_529+46insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.529+45_529+46insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) c.403+45_403+46insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.403+45_403+46insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) n.605+45_605+46insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG | gnomAD v4 |
11 | g.17527179C>A | CA1955187018 | USH1C | c.496+44G>T (n.496+44G>T) c.529+44G>T (n.529+44G>T) c.403+44G>T (n.403+44G>T) n.605+44G>T | dbSNP gnomAD v4 |
11 | g.17527179C= | CA1955187019 | USH1C | c.496+44G= (n.496+44G=) c.529+44G= (n.529+44G=) c.403+44G= (n.403+44G=) n.605+44G= | |
11 | g.17527179C>T | CA2574769555 | USH1C | c.496+44G>A (n.496+44G>A) c.529+44G>A (n.529+44G>A) c.403+44G>A (n.403+44G>A) n.605+44G>A | |
11 | g.17527180C= | CA1955187020 | USH1C | c.496+43G= (n.496+43G=) c.529+43G= (n.529+43G=) c.403+43G= (n.403+43G=) n.605+43G= | |
11 | g.17527180C>T | CA597668890 | USH1C | c.496+43G>A (n.496+43G>A) c.529+43G>A (n.529+43G>A) c.403+43G>A (n.403+43G>A) n.605+43G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527181T>A | CA2574769556 | USH1C | c.496+42A>T (n.496+42A>T) c.529+42A>T (n.529+42A>T) c.403+42A>T (n.403+42A>T) n.605+42A>T | |
11 | g.17527181T>C | CA5905020 | USH1C | c.496+42A>G (n.496+42A>G) c.529+42A>G (n.529+42A>G) c.403+42A>G (n.403+42A>G) n.605+42A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17527181T= | CA1955187021 | USH1C | c.496+42A= (n.496+42A=) c.529+42A= (n.529+42A=) c.403+42A= (n.403+42A=) n.605+42A= | |
11 | g.17527182C>A | CA2612677144 | USH1C | c.496+41G>T (n.496+41G>T) c.529+41G>T (n.529+41G>T) c.403+41G>T (n.403+41G>T) n.605+41G>T | gnomAD v4 |
11 | g.17527182C>T | CA654520833 | USH1C | c.496+41G>A (n.496+41G>A) c.529+41G>A (n.529+41G>A) c.403+41G>A (n.403+41G>A) n.605+41G>A | COSMIC |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCGCCCACCGTCATGGAGTACTGCCCTGCTC | CA935547516 | USH1C | c.496+41_496+42insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.496+41_496+42insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) c.529+41_529+42insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.529+41_529+42insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) c.403+41_403+42insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG (n.403+41_403+42insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG) n.605+41_605+42insCGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGG | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527183C>T | CA2790594274 | USH1C | c.496+40G>A (n.496+40G>A) c.529+40G>A (n.529+40G>A) c.403+40G>A (n.403+40G>A) n.605+40G>A | |
11 | g.17527184C>A | CA5905021 | USH1C | c.496+39G>T (n.496+39G>T) c.529+39G>T (n.529+39G>T) c.403+39G>T (n.403+39G>T) n.605+39G>T | dbSNP ExAC |
11 | g.17527184C= | CA1955187022 | USH1C | c.496+39G= (n.496+39G=) c.529+39G= (n.529+39G=) c.403+39G= (n.403+39G=) n.605+39G= | |
11 | g.17527185A= | CA1955187023 | USH1C | c.496+38T= (n.496+38T=) c.529+38T= (n.529+38T=) c.403+38T= (n.403+38T=) n.605+38T= | |
11 | g.17527185A>C | CA5905022 | USH1C | c.496+38T>G (n.496+38T>G) c.529+38T>G (n.529+38T>G) c.403+38T>G (n.403+38T>G) n.605+38T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17527185A>G | CA2612677147 | USH1C | c.496+38T>C (n.496+38T>C) c.529+38T>C (n.529+38T>C) c.403+38T>C (n.403+38T>C) n.605+38T>C | gnomAD v4 |
11 | g.17527185A>T | CA2790594275 | USH1C | c.496+38T>A (n.496+38T>A) c.529+38T>A (n.529+38T>A) c.403+38T>A (n.403+38T>A) n.605+38T>A | |
11 | g.17527194_17527195insGGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCCCCGTCATGG | CA2612677152 | USH1C | c.496+37_496+38insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACCCCATGACGG (n.496+37_496+38insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACCCCATGACGG) c.529+37_529+38insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACCCCATGACGG (n.529+37_529+38insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACCCCATGACGG) c.403+37_403+38insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACCCCATGACGG (n.403+37_403+38insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACCCCATGACGG) n.605+37_605+38insGGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACCCCATGACGG | gnomAD v4 |
11 | g.17527188_17527204del | CA2612677150 | USH1C | c.496+21_496+37del (n.496+21_496+37del) c.529+21_529+37del (n.529+21_529+37del) c.403+21_403+37del (n.403+21_403+37del) n.605+21_605+37del | gnomAD v4 |
11 | g.17527187_17527207del | CA2612677151 | USH1C | c.496+17_496+37del (n.496+17_496+37del) c.529+17_529+37del (n.529+17_529+37del) c.403+17_403+37del (n.403+17_403+37del) n.605+17_605+37del | gnomAD v4 |
11 | g.17527187C>A | CA2612677154 | USH1C | c.496+36G>T (n.496+36G>T) c.529+36G>T (n.529+36G>T) c.403+36G>T (n.403+36G>T) n.605+36G>T | gnomAD v4 |
11 | g.17527187C= | CA1955187024 | USH1C | c.496+36G= (n.496+36G=) c.529+36G= (n.529+36G=) c.403+36G= (n.403+36G=) n.605+36G= | |
11 | g.17527187C>T | CA674239604 | USH1C | c.496+36G>A (n.496+36G>A) c.529+36G>A (n.529+36G>A) c.403+36G>A (n.403+36G>A) n.605+36G>A | dbSNP gnomAD v4 |
11 | g.17527187_17527201delinsCGTCATGGAGTACTG | CA1955187025 | USH1C | c.496+22_496+36delinsCAGTACTCCATGACG (n.496+22_496+36delinsCAGTACTCCATGACG) c.529+22_529+36delinsCAGTACTCCATGACG (n.529+22_529+36delinsCAGTACTCCATGACG) c.403+22_403+36delinsCAGTACTCCATGACG (n.403+22_403+36delinsCAGTACTCCATGACG) n.605+22_605+36delinsCAGTACTCCATGACG | |
11 | g.17527188G>A | CA5905023 | USH1C | c.496+35C>T (n.496+35C>T) c.529+35C>T (n.529+35C>T) c.403+35C>T (n.403+35C>T) n.605+35C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527188G= | CA1955187026 | USH1C | c.496+35C= (n.496+35C=) c.529+35C= (n.529+35C=) c.403+35C= (n.403+35C=) n.605+35C= | |
11 | g.17527188_17527201del | CA218461581 | USH1C | c.496+22_496+35del (n.496+22_496+35del) c.529+22_529+35del (n.529+22_529+35del) c.403+22_403+35del (n.403+22_403+35del) n.605+22_605+35del | dbSNP |
11 | g.17527189T= | CA1955187027 | USH1C | c.496+34A= (n.496+34A=) c.529+34A= (n.529+34A=) c.403+34A= (n.403+34A=) n.605+34A= | |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCATCATGGAGTACTGCCCTGCTC | CA2612677156 | USH1C | c.496+34_496+35insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA (n.496+34_496+35insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA) c.529+34_529+35insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA (n.529+34_529+35insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA) c.403+34_403+35insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA (n.403+34_403+35insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA) n.605+34_605+35insTGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGA | gnomAD v4 |
11 | g.17527190C>A | CA2580994989 | USH1C | c.496+33G>T (n.496+33G>T) c.529+33G>T (n.529+33G>T) c.403+33G>T (n.403+33G>T) n.605+33G>T | |
11 | g.17527190C= | CA5905024 | USH1C | c.496+33G= (n.496+33G=) c.529+33G= (n.529+33G=) c.403+33G= (n.403+33G=) n.605+33G= | |
11 | g.17527190C>G | CA1955187028 | USH1C | c.496+33G>C (n.496+33G>C) c.529+33G>C (n.529+33G>C) c.403+33G>C (n.403+33G>C) n.605+33G>C | dbSNP |
11 | g.17527190C>T | CA218461604 | USH1C | c.496+33G>A (n.496+33G>A) c.529+33G>A (n.529+33G>A) c.403+33G>A (n.403+33G>A) n.605+33G>A | dbSNP |
11 | g.17527190_17527191dup | CA674239610 | USH1C | c.496+32_496+33dup (n.496+32_496+33dup) c.529+32_529+33dup (n.529+32_529+33dup) c.403+32_403+33dup (n.403+32_403+33dup) n.605+32_605+33dup | ClinVar dbSNP |
11 | g.17527191A= | CA1955187029 | USH1C | c.496+32T= (n.496+32T=) c.529+32T= (n.529+32T=) c.403+32T= (n.403+32T=) n.605+32T= | |
11 | g.17527191A>C | CA2612677158 | USH1C | c.496+32T>G (n.496+32T>G) c.529+32T>G (n.529+32T>G) c.403+32T>G (n.403+32T>G) n.605+32T>G | gnomAD v4 |
11 | g.17527191A>G | CA218461628 | USH1C | c.496+32T>C (n.496+32T>C) c.529+32T>C (n.529+32T>C) c.403+32T>C (n.403+32T>C) n.605+32T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527191A>T | CA674239614 | USH1C | c.496+32T>A (n.496+32T>A) c.529+32T>A (n.529+32T>A) c.403+32T>A (n.403+32T>A) n.605+32T>A | dbSNP gnomAD v4 |
11 | g.17527192T>A | CA5905025 | USH1C | c.496+31A>T (n.496+31A>T) c.529+31A>T (n.529+31A>T) c.403+31A>T (n.403+31A>T) n.605+31A>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
11 | g.17527192T>C | CA935547520 | USH1C | c.496+31A>G (n.496+31A>G) c.529+31A>G (n.529+31A>G) c.403+31A>G (n.403+31A>G) n.605+31A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527192T>G | CA2612677161 | USH1C | c.496+31A>C (n.496+31A>C) c.529+31A>C (n.529+31A>C) c.403+31A>C (n.403+31A>C) n.605+31A>C | gnomAD v4 |
11 | g.17527192T= | CA1955187031 | USH1C | c.496+31A= (n.496+31A=) c.529+31A= (n.529+31A=) c.403+31A= (n.403+31A=) n.605+31A= | |
11 | g.17527209_17527210insCCCCGCCCTCCCTCCCTCCCACCGTCGTGGAGTACTGCCCTGCTC | CA2612677162 | USH1C | c.496+31_496+32insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA (n.496+31_496+32insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA) c.529+31_529+32insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA (n.529+31_529+32insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA) c.403+31_403+32insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA (n.403+31_403+32insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA) n.605+31_605+32insCGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCA | gnomAD v4 |
11 | g.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 |