Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17527003_17527004delinsAG | CA1955186857 | USH1C | c.521+12_521+13delinsCT (n.521+12_521+13delinsCT) c.554+12_554+13delinsCT (n.554+12_554+13delinsCT) c.428+12_428+13delinsCT (n.428+12_428+13delinsCT) n.630+12_630+13delinsCT | |
11 | g.17527004G>T | CA2612675031 | USH1C | c.521+12C>A (n.521+12C>A) c.554+12C>A (n.554+12C>A) c.428+12C>A (n.428+12C>A) n.630+12C>A | gnomAD v4 |
11 | g.17527007del | CA597668620 | USH1C | c.521+12del (n.521+12del) c.554+12del (n.554+12del) c.428+12del (n.428+12del) n.630+12del | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527005G>A | CA2612675033 | USH1C | c.521+11C>T (n.521+11C>T) c.554+11C>T (n.554+11C>T) c.428+11C>T (n.428+11C>T) n.630+11C>T | dbSNP gnomAD v4 |
11 | g.17527005G>C | CA2612675034 | USH1C | c.521+11C>G (n.521+11C>G) c.554+11C>G (n.554+11C>G) c.428+11C>G (n.428+11C>G) n.630+11C>G | ClinVar gnomAD v4 |
11 | g.17527005G>T | CA2612675035 | USH1C | c.521+11C>A (n.521+11C>A) c.554+11C>A (n.554+11C>A) c.428+11C>A (n.428+11C>A) n.630+11C>A | gnomAD v4 |
11 | g.17527006G>A | CA2612675036 | USH1C | c.521+10C>T (n.521+10C>T) c.554+10C>T (n.554+10C>T) c.428+10C>T (n.428+10C>T) n.630+10C>T | gnomAD v4 |
11 | g.17527006G= | CA1955186858 | USH1C | c.521+10C= (n.521+10C=) c.554+10C= (n.554+10C=) c.428+10C= (n.428+10C=) n.630+10C= | |
11 | g.17527006G>T | CA218461321 | USH1C | c.521+10C>A (n.521+10C>A) c.554+10C>A (n.554+10C>A) c.428+10C>A (n.428+10C>A) n.630+10C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527007G>A | CA2723094658 | USH1C | c.521+9C>T (n.521+9C>T) c.554+9C>T (n.554+9C>T) c.428+9C>T (n.428+9C>T) n.630+9C>T | dbSNP |
11 | g.17527007G= | CA1955186859 | USH1C | c.521+9C= (n.521+9C=) c.554+9C= (n.554+9C=) c.428+9C= (n.428+9C=) n.630+9C= | |
11 | g.17527007G>T | CA674239278 | USH1C | c.521+9C>A (n.521+9C>A) c.554+9C>A (n.554+9C>A) c.428+9C>A (n.428+9C>A) n.630+9C>A | dbSNP gnomAD v4 |
11 | g.17527008C>A | CA2612675048 | USH1C | c.521+8G>T (n.521+8G>T) c.554+8G>T (n.554+8G>T) c.428+8G>T (n.428+8G>T) n.630+8G>T | gnomAD v4 |
11 | g.17527008C= | CA1955186860 | USH1C | c.521+8G= (n.521+8G=) c.554+8G= (n.554+8G=) c.428+8G= (n.428+8G=) n.630+8G= | |
11 | g.17527008C>G | CA597668622 | USH1C | c.521+8G>C (n.521+8G>C) c.554+8G>C (n.554+8G>C) c.428+8G>C (n.428+8G>C) n.630+8G>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527008C>T | CA2580082777 | USH1C | c.521+8G>A (n.521+8G>A) c.554+8G>A (n.554+8G>A) c.428+8G>A (n.428+8G>A) n.630+8G>A | ClinVar gnomAD v4 |
11 | g.17527009C>A | CA597668623 | USH1C | c.521+7G>T (n.521+7G>T) c.554+7G>T (n.554+7G>T) c.428+7G>T (n.428+7G>T) n.630+7G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527009C= | CA1955186861 | USH1C | c.521+7G= (n.521+7G=) c.554+7G= (n.554+7G=) c.428+7G= (n.428+7G=) n.630+7G= | |
11 | g.17527009C>G | CA2612675058 | USH1C | c.521+7G>C (n.521+7G>C) c.554+7G>C (n.554+7G>C) c.428+7G>C (n.428+7G>C) n.630+7G>C | gnomAD v4 |
11 | g.17527009C>T | CA597668624 | USH1C | c.521+7G>A (n.521+7G>A) c.554+7G>A (n.554+7G>A) c.428+7G>A (n.428+7G>A) n.630+7G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527010T>A | CA2612675063 | USH1C | c.521+6A>T (n.521+6A>T) c.554+6A>T (n.554+6A>T) c.428+6A>T (n.428+6A>T) n.630+6A>T | gnomAD v4 |
11 | g.17527010T>C | CA2612675064 | USH1C | c.521+6A>G (n.521+6A>G) c.554+6A>G (n.554+6A>G) c.428+6A>G (n.428+6A>G) n.630+6A>G | gnomAD v4 |
11 | g.17527011C>A | CA2612675067 | USH1C | c.521+5G>T (n.521+5G>T) c.554+5G>T (n.554+5G>T) c.428+5G>T (n.428+5G>T) n.630+5G>T | gnomAD v4 |
11 | g.17527011C= | CA1955186862 | USH1C | c.521+5G= (n.521+5G=) c.554+5G= (n.554+5G=) c.428+5G= (n.428+5G=) n.630+5G= | |
11 | g.17527011C>T | CA597668625 | USH1C | c.521+5G>A (n.521+5G>A) c.554+5G>A (n.554+5G>A) c.428+5G>A (n.428+5G>A) n.630+5G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527012T>A | CA218461323 | USH1C | c.521+4A>T (n.521+4A>T) c.554+4A>T (n.554+4A>T) c.428+4A>T (n.428+4A>T) n.630+4A>T | dbSNP |
11 | g.17527012T>C | CA2612675068 | USH1C | c.521+4A>G (n.521+4A>G) c.554+4A>G (n.554+4A>G) c.428+4A>G (n.428+4A>G) n.630+4A>G | gnomAD v4 |
11 | g.17527012T>G | CA218461338 | USH1C | c.521+4A>C (n.521+4A>C) c.554+4A>C (n.554+4A>C) c.428+4A>C (n.428+4A>C) n.630+4A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527012T= | CA1955186863 | USH1C | c.521+4A= (n.521+4A=) c.554+4A= (n.554+4A=) c.428+4A= (n.428+4A=) n.630+4A= | |
11 | g.17527013C>A | CA2612675073 | USH1C | c.521+3G>T (n.521+3G>T) c.554+3G>T (n.554+3G>T) c.428+3G>T (n.428+3G>T) n.630+3G>T | gnomAD v4 |
11 | g.17527013C= | CA1955186864 | USH1C | c.521+3G= (n.521+3G=) c.554+3G= (n.554+3G=) c.428+3G= (n.428+3G=) n.630+3G= | |
11 | g.17527013C>T | CA5904999 | USH1C | c.521+3G>A (n.521+3G>A) c.554+3G>A (n.554+3G>A) c.428+3G>A (n.428+3G>A) n.630+3G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527014A= | CA1955186865 | USH1C | c.521+2T= (n.521+2T=) c.554+2T= (n.554+2T=) c.428+2T= (n.428+2T=) n.630+2T= | |
11 | g.17527014A>C | CA379794724 | USH1C | c.521+2T>G (n.521+2T>G) c.554+2T>G (n.554+2T>G) c.428+2T>G (n.428+2T>G) n.630+2T>G | dbSNP |
11 | g.17527014A>G | CA379794716 | USH1C | c.521+2T>C (n.521+2T>C) c.554+2T>C (n.554+2T>C) c.428+2T>C (n.428+2T>C) n.630+2T>C | gnomAD v4 |
11 | g.17527014A>T | CA379794720 | USH1C | c.521+2T>A (n.521+2T>A) c.554+2T>A (n.554+2T>A) c.428+2T>A (n.428+2T>A) n.630+2T>A | |
11 | g.17527015C>A | CA379794729 | USH1C | c.521+1G>T (n.521+1G>T) c.554+1G>T (n.554+1G>T) c.428+1G>T (n.428+1G>T) n.630+1G>T | gnomAD v4 |
11 | g.17527015C>G | CA379794737 | USH1C | c.521+1G>C (n.521+1G>C) c.554+1G>C (n.554+1G>C) c.428+1G>C (n.428+1G>C) n.630+1G>C | |
11 | g.17527015C>T | CA379794740 | USH1C | c.521+1G>A (n.521+1G>A) c.554+1G>A (n.554+1G>A) c.428+1G>A (n.428+1G>A) n.630+1G>A | ClinVar |
11 | g.17527016C>A | CA379794744 | USH1C | c.521G>T (p.Ser174Ile) c.554G>T (p.Ser185Ile) c.428G>T (p.Ser143Ile) n.630G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.17527016C= | CA1955186866 | USH1C | c.521G= (p.Ser174=) c.554G= (p.Ser185=) c.428G= (p.Ser143=) n.630G= | |
11 | g.17527016C>G | CA379794746 | USH1C | c.521G>C (p.Ser174Thr) c.554G>C (p.Ser185Thr) c.428G>C (p.Ser143Thr) n.630G>C | gnomAD v4 |
11 | g.17527016C>T | CA379794748 | USH1C | c.521G>A (p.Ser174Asn) c.554G>A (p.Ser185Asn) c.428G>A (p.Ser143Asn) n.630G>A | gnomAD v4 |
11 | g.17527017T>A | CA379794753 | USH1C | c.520A>T (p.Ser174Cys) c.553A>T (p.Ser185Cys) c.427A>T (p.Ser143Cys) n.629A>T | |
11 | g.17527017T>C | CA218461349 | USH1C | c.520A>G (p.Ser174Gly) c.553A>G (p.Ser185Gly) c.427A>G (p.Ser143Gly) n.629A>G | dbSNP gnomAD v4 |
11 | g.17527017T>G | CA379794757 | USH1C | c.520A>C (p.Ser174Arg) c.553A>C (p.Ser185Arg) c.427A>C (p.Ser143Arg) n.629A>C | |
11 | g.17527017T= | CA1955186867 | USH1C | c.520A= (p.Ser174=) c.553A= (p.Ser185=) c.427A= (p.Ser143=) n.629A= | |
11 | g.17527020del | CA2612675096 | USH1C | c.520del (p.Ser174AlafsTer?) c.553del (p.Ser185AlafsTer?) c.427del (p.Ser143AlafsTer?) n.629del | gnomAD v4 |
11 | g.17527018T>A | CA379794769 | USH1C | c.519A>T (p.Lys173Asn) c.552A>T (p.Lys184Asn) c.426A>T (p.Lys142Asn) n.628A>T | |
11 | g.17527018T>C | CA473302260 | USH1C | c.519A>G (p.Lys173=) c.552A>G (p.Lys184=) c.426A>G (p.Lys142=) n.628A>G | |
11 | g.17527018T>G | CA379794763 | USH1C | c.519A>C (p.Lys173Asn) c.552A>C (p.Lys184Asn) c.426A>C (p.Lys142Asn) n.628A>C | |
11 | g.17527019T>A | CA379794774 | USH1C | c.518A>T (p.Lys173Ile) c.551A>T (p.Lys184Ile) c.425A>T (p.Lys142Ile) n.627A>T | gnomAD v4 |
11 | g.17527019T>C | CA379794777 | USH1C | c.518A>G (p.Lys173Arg) c.551A>G (p.Lys184Arg) c.425A>G (p.Lys142Arg) n.627A>G | ClinVar gnomAD v4 |
11 | g.17527019T>G | CA379794780 | USH1C | c.518A>C (p.Lys173Thr) c.551A>C (p.Lys184Thr) c.425A>C (p.Lys142Thr) n.627A>C | |
11 | g.17527020T>A | CA379794786 | USH1C | c.517A>T (p.Lys173Ter) c.550A>T (p.Lys184Ter) c.424A>T (p.Lys142Ter) n.626A>T | |
11 | g.17527020T>C | CA379794788 | USH1C | c.517A>G (p.Lys173Glu) c.550A>G (p.Lys184Glu) c.424A>G (p.Lys142Glu) n.626A>G | dbSNP |
11 | g.17527020T>G | CA379794794 | USH1C | c.517A>C (p.Lys173Gln) c.550A>C (p.Lys184Gln) c.424A>C (p.Lys142Gln) n.626A>C | |
11 | g.17527020T= | CA1955186868 | USH1C | c.517A= (p.Lys173=) c.550A= (p.Lys184=) c.424A= (p.Lys142=) n.626A= | |
11 | g.17527021C>A | CA473302267 | USH1C | c.516G>T (p.Val172=) c.549G>T (p.Val183=) c.423G>T (p.Val141=) n.625G>T | gnomAD v4 COSMIC COSMIC |
11 | g.17527021C= | CA1955186869 | USH1C | c.516G= (p.Val172=) c.549G= (p.Val183=) c.423G= (p.Val141=) n.625G= | |
11 | g.17527021C>G | CA473302268 | USH1C | c.516G>C (p.Val172=) c.549G>C (p.Val183=) c.423G>C (p.Val141=) n.625G>C | |
11 | g.17527021C>T | CA473302269 | USH1C | c.516G>A (p.Val172=) c.549G>A (p.Val183=) c.423G>A (p.Val141=) n.625G>A | dbSNP gnomAD v2 |
11 | g.17527022A>C | CA379794799 | USH1C | c.515T>G (p.Val172Gly) c.548T>G (p.Val183Gly) c.422T>G (p.Val141Gly) n.624T>G | gnomAD v4 |
11 | g.17527022A>G | CA379794803 | USH1C | c.515T>C (p.Val172Ala) c.548T>C (p.Val183Ala) c.422T>C (p.Val141Ala) n.624T>C | gnomAD v4 |
11 | g.17527022A>T | CA379794807 | USH1C | c.515T>A (p.Val172Glu) c.548T>A (p.Val183Glu) c.422T>A (p.Val141Glu) n.624T>A | |
11 | g.17527023C>A | CA379794810 | USH1C | c.514G>T (p.Val172Leu) c.547G>T (p.Val183Leu) c.421G>T (p.Val141Leu) n.623G>T | ClinVar dbSNP gnomAD v4 |
11 | g.17527023C= | CA1955186870 | USH1C | c.514G= (p.Val172=) c.547G= (p.Val183=) c.421G= (p.Val141=) n.623G= | |
11 | g.17527023C>G | CA379794814 | USH1C | c.514G>C (p.Val172Leu) c.547G>C (p.Val183Leu) c.421G>C (p.Val141Leu) n.623G>C | |
11 | g.17527023C>T | CA5905000 | USH1C | c.514G>A (p.Val172Met) c.547G>A (p.Val183Met) c.421G>A (p.Val141Met) n.623G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.17527024G>A | CA246704 | USH1C | c.513C>T (p.Pro171=) c.546C>T (p.Pro182=) c.420C>T (p.Pro140=) n.622C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527024G>C | CA5905001 | USH1C | c.513C>G (p.Pro171=) c.546C>G (p.Pro182=) c.420C>G (p.Pro140=) n.622C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17527024G= | CA1955186871 | USH1C | c.513C= (p.Pro171=) c.546C= (p.Pro182=) c.420C= (p.Pro140=) n.622C= | |
11 | g.17527024G>T | CA473302274 | USH1C | c.513C>A (p.Pro171=) c.546C>A (p.Pro182=) c.420C>A (p.Pro140=) n.622C>A | dbSNP gnomAD v4 |
11 | g.17527027del | CA2612675116 | USH1C | c.513del (p.Val172Ter) c.546del (p.Val183Ter) c.420del (p.Val141Ter) n.622del | dbSNP gnomAD v4 |
11 | g.17527025G>A | CA379794829 | USH1C | c.512C>T (p.Pro171Leu) c.545C>T (p.Pro182Leu) c.419C>T (p.Pro140Leu) n.621C>T | |
11 | g.17527025G>C | CA379794832 | USH1C | c.512C>G (p.Pro171Arg) c.545C>G (p.Pro182Arg) c.419C>G (p.Pro140Arg) n.621C>G | |
11 | g.17527025G>T | CA379794835 | USH1C | c.512C>A (p.Pro171His) c.545C>A (p.Pro182His) c.419C>A (p.Pro140His) n.621C>A | gnomAD v4 |
11 | g.17527026G>A | CA379794842 | USH1C | c.511C>T (p.Pro171Ser) c.544C>T (p.Pro182Ser) c.418C>T (p.Pro140Ser) n.620C>T | COSMIC COSMIC |
11 | g.17527026G>C | CA379794845 | USH1C | c.511C>G (p.Pro171Ala) c.544C>G (p.Pro182Ala) c.418C>G (p.Pro140Ala) n.620C>G | |
11 | g.17527026G>T | CA379794848 | USH1C | c.511C>A (p.Pro171Thr) c.544C>A (p.Pro182Thr) c.418C>A (p.Pro140Thr) n.620C>A | |
11 | g.17527027G>A | CA473302279 | USH1C | c.510C>T (p.Ile170=) c.543C>T (p.Ile181=) c.417C>T (p.Ile139=) n.619C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527027G>C | CA379794850 | USH1C | c.510C>G (p.Ile170Met) c.543C>G (p.Ile181Met) c.417C>G (p.Ile139Met) n.619C>G | |
11 | g.17527027G= | CA1955186872 | USH1C | c.510C= (p.Ile170=) c.543C= (p.Ile181=) c.417C= (p.Ile139=) n.619C= | |
11 | g.17527027G>T | CA473302282 | USH1C | c.510C>A (p.Ile170=) c.543C>A (p.Ile181=) c.417C>A (p.Ile139=) n.619C>A | |
11 | g.17527028A>C | CA379794861 | USH1C | c.509T>G (p.Ile170Ser) c.542T>G (p.Ile181Ser) c.416T>G (p.Ile139Ser) n.618T>G | |
11 | g.17527028A>G | CA379794864 | USH1C | c.509T>C (p.Ile170Thr) c.542T>C (p.Ile181Thr) c.416T>C (p.Ile139Thr) n.618T>C | gnomAD v4 |
11 | g.17527028A>T | CA379794868 | USH1C | c.509T>A (p.Ile170Asn) c.542T>A (p.Ile181Asn) c.416T>A (p.Ile139Asn) n.618T>A | |
11 | g.17527029T>A | CA379794872 | USH1C | c.508A>T (p.Ile170Phe) c.541A>T (p.Ile181Phe) c.415A>T (p.Ile139Phe) n.617A>T | |
11 | g.17527029T>C | CA379794877 | USH1C | c.508A>G (p.Ile170Val) c.541A>G (p.Ile181Val) c.415A>G (p.Ile139Val) n.617A>G | |
11 | g.17527029T>G | CA379794881 | USH1C | c.508A>C (p.Ile170Leu) c.541A>C (p.Ile181Leu) c.415A>C (p.Ile139Leu) n.617A>C | |
11 | g.17527030C>A | CA473302287 | USH1C | c.507G>T (p.Leu169=) c.540G>T (p.Leu180=) c.414G>T (p.Leu138=) n.616G>T | gnomAD v4 |
11 | g.17527030C= | CA1955186873 | USH1C | c.507G= (p.Leu169=) c.540G= (p.Leu180=) c.414G= (p.Leu138=) n.616G= | |
11 | g.17527030C>G | CA473302289 | USH1C | c.507G>C (p.Leu169=) c.540G>C (p.Leu180=) c.414G>C (p.Leu138=) n.616G>C | ClinVar dbSNP |
11 | g.17527030C>T | CA473302292 | USH1C | c.507G>A (p.Leu169=) c.540G>A (p.Leu180=) c.414G>A (p.Leu138=) n.616G>A | dbSNP |
11 | g.17527031A= | CA1955186874 | USH1C | c.506T= (p.Leu169=) c.539T= (p.Leu180=) c.413T= (p.Leu138=) n.615T= | |
11 | g.17527031A>C | CA379794921 | USH1C | c.506T>G (p.Leu169Arg) c.539T>G (p.Leu180Arg) c.413T>G (p.Leu138Arg) n.615T>G | |
11 | g.17527031A>G | CA379794884 | USH1C | c.506T>C (p.Leu169Pro) c.539T>C (p.Leu180Pro) c.413T>C (p.Leu138Pro) n.615T>C | ClinVar dbSNP gnomAD v4 |
11 | g.17527031A>T | CA379794888 | USH1C | c.506T>A (p.Leu169Gln) c.539T>A (p.Leu180Gln) c.413T>A (p.Leu138Gln) n.615T>A | gnomAD v4 |
11 | g.17527032G>A | CA473302294 | USH1C | c.505C>T (p.Leu169=) c.538C>T (p.Leu180=) c.412C>T (p.Leu138=) n.614C>T | ClinVar dbSNP gnomAD v4 |
11 | g.17527032G>C | CA379794925 | USH1C | c.505C>G (p.Leu169Val) c.538C>G (p.Leu180Val) c.412C>G (p.Leu138Val) n.614C>G | |
11 | g.17527032G= | CA1955186875 | USH1C | c.505C= (p.Leu169=) c.538C= (p.Leu180=) c.412C= (p.Leu138=) n.614C= | |
11 | g.17527032G>T | CA379794926 | USH1C | c.505C>A (p.Leu169Met) c.538C>A (p.Leu180Met) c.412C>A (p.Leu138Met) n.614C>A | gnomAD v4 |
11 | g.17527033G>A | CA473302295 | USH1C | c.504C>T (p.Gly168=) c.537C>T (p.Gly179=) c.411C>T (p.Gly137=) n.613C>T | gnomAD v4 |
11 | g.17527033G>C | CA473302296 | USH1C | c.504C>G (p.Gly168=) c.537C>G (p.Gly179=) c.411C>G (p.Gly137=) n.613C>G | |
11 | g.17527033G>T | CA473302297 | USH1C | c.504C>A (p.Gly168=) c.537C>A (p.Gly179=) c.411C>A (p.Gly137=) n.613C>A | |
11 | g.17527034C>A | CA379794928 | USH1C | c.503G>T (p.Gly168Val) c.536G>T (p.Gly179Val) c.410G>T (p.Gly137Val) n.612G>T | gnomAD v4 |
11 | g.17527034C= | CA1955186876 | USH1C | c.503G= (p.Gly168=) c.536G= (p.Gly179=) c.410G= (p.Gly137=) n.612G= | |
11 | g.17527034C>G | CA379794931 | USH1C | c.503G>C (p.Gly168Ala) c.536G>C (p.Gly179Ala) c.410G>C (p.Gly137Ala) n.612G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527034C>T | CA379794938 | USH1C | c.503G>A (p.Gly168Asp) c.536G>A (p.Gly179Asp) c.410G>A (p.Gly137Asp) n.612G>A | gnomAD v4 |
11 | g.17527034_17527035insTTGGATTTTTATGTCTTTTTATTTCATTTCTCTAGTAATTCATTTTTATTTCACAAAATGACAGTTCTTCGTGGGTTGGACACTTATTTTTTATTTTTA | CA935546983 | USH1C | c.502_503insTAAAAATAAAAAATAAGTGTCCAACCCACGAAGAACTGTCATTTTGTGAAATAAAAATGAATTACTAGAGAAATGAAATAAAAAGACATAAAAATCCAA (p.Gly168ValfsTer23) c.535_536insTAAAAATAAAAAATAAGTGTCCAACCCACGAAGAACTGTCATTTTGTGAAATAAAAATGAATTACTAGAGAAATGAAATAAAAAGACATAAAAATCCAA (p.Gly179ValfsTer23) c.409_410insTAAAAATAAAAAATAAGTGTCCAACCCACGAAGAACTGTCATTTTGTGAAATAAAAATGAATTACTAGAGAAATGAAATAAAAAGACATAAAAATCCAA (p.Gly137ValfsTer23) n.611_612insTAAAAATAAAAAATAAGTGTCCAACCCACGAAGAACTGTCATTTTGTGAAATAAAAATGAATTACTAGAGAAATGAAATAAAAAGACATAAAAATCCAA | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527035C>A | CA379794942 | USH1C | c.502G>T (p.Gly168Cys) c.535G>T (p.Gly179Cys) c.409G>T (p.Gly137Cys) n.611G>T | ClinVar gnomAD v4 |
11 | g.17527035C= | CA1955186877 | USH1C | c.502G= (p.Gly168=) c.535G= (p.Gly179=) c.409G= (p.Gly137=) n.611G= | |
11 | g.17527035C>G | CA379794944 | USH1C | c.502G>C (p.Gly168Arg) c.535G>C (p.Gly179Arg) c.409G>C (p.Gly137Arg) n.611G>C | ClinVar |
11 | g.17527035C>T | CA218461363 | USH1C | c.502G>A (p.Gly168Ser) c.535G>A (p.Gly179Ser) c.409G>A (p.Gly137Ser) n.611G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527036G>A | CA473302301 | USH1C | c.501C>T (p.Ile167=) c.534C>T (p.Ile178=) c.408C>T (p.Ile136=) n.610C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527036G>C | CA379794947 | USH1C | c.501C>G (p.Ile167Met) c.534C>G (p.Ile178Met) c.408C>G (p.Ile136Met) n.610C>G | dbSNP gnomAD v4 |
11 | g.17527036G= | CA1955186878 | USH1C | c.501C= (p.Ile167=) c.534C= (p.Ile178=) c.408C= (p.Ile136=) n.610C= | |
11 | g.17527036G>T | CA473302302 | USH1C | c.501C>A (p.Ile167=) c.534C>A (p.Ile178=) c.408C>A (p.Ile136=) n.610C>A | |
11 | g.17527037A>C | CA379794950 | USH1C | c.500T>G (p.Ile167Ser) c.533T>G (p.Ile178Ser) c.407T>G (p.Ile136Ser) n.609T>G | |
11 | g.17527037A>G | CA379794954 | USH1C | c.500T>C (p.Ile167Thr) c.533T>C (p.Ile178Thr) c.407T>C (p.Ile136Thr) n.609T>C | |
11 | g.17527037A>T | CA379794959 | USH1C | c.500T>A (p.Ile167Asn) c.533T>A (p.Ile178Asn) c.407T>A (p.Ile136Asn) n.609T>A | gnomAD v4 |
11 | g.17527037_17527039delinsATG | CA1955186879 | USH1C | c.498_500delinsCAT (p.His166=) c.531_533delinsCAT (p.His177=) c.405_407delinsCAT (p.His135=) n.607_609delinsCAT | |
11 | g.17527038T>A | CA379794983 | USH1C | c.499A>T (p.Ile167Phe) c.532A>T (p.Ile178Phe) c.406A>T (p.Ile136Phe) n.608A>T | dbSNP |
11 | g.17527038T>C | CA379794987 | USH1C | c.499A>G (p.Ile167Val) c.532A>G (p.Ile178Val) c.406A>G (p.Ile136Val) n.608A>G | |
11 | g.17527038T>G | CA379794979 | USH1C | c.499A>C (p.Ile167Leu) c.532A>C (p.Ile178Leu) c.406A>C (p.Ile136Leu) n.608A>C | |
11 | g.17527038T= | CA1955186880 | USH1C | c.499A= (p.Ile167=) c.532A= (p.Ile178=) c.406A= (p.Ile136=) n.608A= | |
11 | g.17527039_17527040del | CA935547012 | USH1C | c.498_499del (p.Ile167ArgfsTer10) c.531_532del (p.Ile178ArgfsTer10) c.405_406del (p.Ile136ArgfsTer10) n.607_608del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527039G>A | CA473302305 | USH1C | c.498C>T (p.His166=) c.531C>T (p.His177=) c.405C>T (p.His135=) n.607C>T | ClinVar gnomAD v4 |
11 | g.17527039G>C | CA379794993 | USH1C | c.498C>G (p.His166Gln) c.531C>G (p.His177Gln) c.405C>G (p.His135Gln) n.607C>G | |
11 | g.17527039G>T | CA379794990 | USH1C | c.498C>A (p.His166Gln) c.531C>A (p.His177Gln) c.405C>A (p.His135Gln) n.607C>A | gnomAD v4 |
11 | g.17527040T>A | CA379794998 | USH1C | c.497A>T (p.His166Leu) c.530A>T (p.His177Leu) c.404A>T (p.His135Leu) n.606A>T | |
11 | g.17527040T>C | CA379795001 | USH1C | c.497A>G (p.His166Arg) c.530A>G (p.His177Arg) c.404A>G (p.His135Arg) n.606A>G | |
11 | g.17527040T>G | CA379795004 | USH1C | c.497A>C (p.His166Pro) c.530A>C (p.His177Pro) c.404A>C (p.His135Pro) n.606A>C | |
11 | g.17527041C>A | CA379795010 | USH1C | c.497-1G>T (n.497-1G>T) c.530-1G>T (n.530-1G>T) c.404-1G>T (n.404-1G>T) n.606-1G>T | gnomAD v4 |
11 | g.17527041C>G | CA379795013 | USH1C | c.497-1G>C (n.497-1G>C) c.530-1G>C (n.530-1G>C) c.404-1G>C (n.404-1G>C) n.606-1G>C | |
11 | g.17527041C>T | CA379795016 | USH1C | c.497-1G>A (n.497-1G>A) c.530-1G>A (n.530-1G>A) c.404-1G>A (n.404-1G>A) n.606-1G>A | |
11 | g.17527041_17527042delinsCT | CA1955186881 | USH1C | c.497-2_497-1delinsAG (n.497-2_497-1delinsAG) c.530-2_530-1delinsAG (n.530-2_530-1delinsAG) c.404-2_404-1delinsAG (n.404-2_404-1delinsAG) n.606-2_606-1delinsAG | |
11 | g.17527042del | CA674239371 | USH1C | c.497-2del (n.497-2del) c.530-2del (n.530-2del) c.404-2del (n.404-2del) n.606-2del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527042T>A | CA379795019 | USH1C | c.497-2A>T (n.497-2A>T) c.530-2A>T (n.530-2A>T) c.404-2A>T (n.404-2A>T) n.606-2A>T | |
11 | g.17527042T>C | CA379795025 | USH1C | c.497-2A>G (n.497-2A>G) c.530-2A>G (n.530-2A>G) c.404-2A>G (n.404-2A>G) n.606-2A>G | gnomAD v4 |
11 | g.17527042T>G | CA379795028 | USH1C | c.497-2A>C (n.497-2A>C) c.530-2A>C (n.530-2A>C) c.404-2A>C (n.404-2A>C) n.606-2A>C | ClinVar dbSNP gnomAD v4 |
11 | g.17527043G>A | CA2612675191 | USH1C | c.497-3C>T (n.497-3C>T) c.530-3C>T (n.530-3C>T) c.404-3C>T (n.404-3C>T) n.606-3C>T | gnomAD v4 |
11 | g.17527043G>C | CA2612675192 | USH1C | c.497-3C>G (n.497-3C>G) c.530-3C>G (n.530-3C>G) c.404-3C>G (n.404-3C>G) n.606-3C>G | gnomAD v4 |
11 | g.17527043G= | CA1955186882 | USH1C | c.497-3C= (n.497-3C=) c.530-3C= (n.530-3C=) c.404-3C= (n.404-3C=) n.606-3C= | |
11 | g.17527043G>T | CA218461365 | USH1C | c.497-3C>A (n.497-3C>A) c.530-3C>A (n.530-3C>A) c.404-3C>A (n.404-3C>A) n.606-3C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527044C>A | CA2574769445 | USH1C | c.497-4G>T (n.497-4G>T) c.530-4G>T (n.530-4G>T) c.404-4G>T (n.404-4G>T) n.606-4G>T | |
11 | g.17527044C= | CA1955186883 | USH1C | c.497-4G= (n.497-4G=) c.530-4G= (n.530-4G=) c.404-4G= (n.404-4G=) n.606-4G= | |
11 | g.17527044C>T | CA142385 | USH1C | c.497-4G>A (n.497-4G>A) c.530-4G>A (n.530-4G>A) c.404-4G>A (n.404-4G>A) n.606-4G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527044_17527045delinsCG | CA1955186884 | USH1C | c.497-5_497-4delinsCG (n.497-5_497-4delinsCG) c.530-5_530-4delinsCG (n.530-5_530-4delinsCG) c.404-5_404-4delinsCG (n.404-5_404-4delinsCG) n.606-5_606-4delinsCG | |
11 | g.17527045G>A | CA5905002 | USH1C | c.497-5C>T (n.497-5C>T) c.530-5C>T (n.530-5C>T) c.404-5C>T (n.404-5C>T) n.606-5C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527045G>C | CA218461390 | USH1C | c.497-5C>G (n.497-5C>G) c.530-5C>G (n.530-5C>G) c.404-5C>G (n.404-5C>G) n.606-5C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527045G= | CA1955186885 | USH1C | c.497-5C= (n.497-5C=) c.530-5C= (n.530-5C=) c.404-5C= (n.404-5C=) n.606-5C= | |
11 | g.17527045G>T | CA2574769448 | USH1C | c.497-5C>A (n.497-5C>A) c.530-5C>A (n.530-5C>A) c.404-5C>A (n.404-5C>A) n.606-5C>A | gnomAD v4 |
11 | g.17527047del | CA597668772 | USH1C | c.497-5del (n.497-5del) c.530-5del (n.530-5del) c.404-5del (n.404-5del) n.606-5del | dbSNP gnomAD v2 |
11 | g.17527046G>A | CA5905003 | USH1C | c.497-6C>T (n.497-6C>T) c.530-6C>T (n.530-6C>T) c.404-6C>T (n.404-6C>T) n.606-6C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17527046G= | CA1955186886 | USH1C | c.497-6C= (n.497-6C=) c.530-6C= (n.530-6C=) c.404-6C= (n.404-6C=) n.606-6C= | |
11 | g.17527046G>T | CA2612675203 | USH1C | c.497-6C>A (n.497-6C>A) c.530-6C>A (n.530-6C>A) c.404-6C>A (n.404-6C>A) n.606-6C>A | gnomAD v4 |
11 | g.17527048A>C | CA2612675205 | USH1C | c.497-8T>G (n.497-8T>G) c.530-8T>G (n.530-8T>G) c.404-8T>G (n.404-8T>G) n.606-8T>G | gnomAD v4 |
11 | g.17527048A>G | CA2612675204 | USH1C | c.497-8T>C (n.497-8T>C) c.530-8T>C (n.530-8T>C) c.404-8T>C (n.404-8T>C) n.606-8T>C | gnomAD v4 |
11 | g.17527049G>C | CA674239380 | USH1C | c.497-9C>G (n.497-9C>G) c.530-9C>G (n.530-9C>G) c.404-9C>G (n.404-9C>G) n.606-9C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527049G= | CA1955186887 | USH1C | c.497-9C= (n.497-9C=) c.530-9C= (n.530-9C=) c.404-9C= (n.404-9C=) n.606-9C= | |
11 | g.17527049G>T | CA2612675208 | USH1C | c.497-9C>A (n.497-9C>A) c.530-9C>A (n.530-9C>A) c.404-9C>A (n.404-9C>A) n.606-9C>A | gnomAD v4 |
11 | g.17527050A= | CA1955186888 | USH1C | c.497-10T= (n.497-10T=) c.530-10T= (n.530-10T=) c.404-10T= (n.404-10T=) n.606-10T= | |
11 | g.17527050A>C | CA2790593393 | USH1C | c.497-10T>G (n.497-10T>G) c.530-10T>G (n.530-10T>G) c.404-10T>G (n.404-10T>G) n.606-10T>G | |
11 | g.17527050A>G | CA915947973 | USH1C | c.497-10T>C (n.497-10T>C) c.530-10T>C (n.530-10T>C) c.404-10T>C (n.404-10T>C) n.606-10T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527050A>T | CA2612675212 | USH1C | c.497-10T>A (n.497-10T>A) c.530-10T>A (n.530-10T>A) c.404-10T>A (n.404-10T>A) n.606-10T>A | gnomAD v4 |
11 | g.17527052A>C | CA2790593395 | USH1C | c.497-12T>G (n.497-12T>G) c.530-12T>G (n.530-12T>G) c.404-12T>G (n.404-12T>G) n.606-12T>G | |
11 | g.17527052A>G | CA2612675215 | USH1C | c.497-12T>C (n.497-12T>C) c.530-12T>C (n.530-12T>C) c.404-12T>C (n.404-12T>C) n.606-12T>C | gnomAD v4 |
11 | g.17527054G>A | CA2612675217 | USH1C | c.497-14C>T (n.497-14C>T) c.530-14C>T (n.530-14C>T) c.404-14C>T (n.404-14C>T) n.606-14C>T | ClinVar gnomAD v4 |
11 | g.17527055C>A | CA2697548474 | USH1C | c.497-15G>T (n.497-15G>T) c.530-15G>T (n.530-15G>T) c.404-15G>T (n.404-15G>T) n.606-15G>T | ClinVar |
11 | g.17527055C= | CA1955186889 | USH1C | c.497-15G= (n.497-15G=) c.530-15G= (n.530-15G=) c.404-15G= (n.404-15G=) n.606-15G= | |
11 | g.17527055C>G | CA2612675219 | USH1C | c.497-15G>C (n.497-15G>C) c.530-15G>C (n.530-15G>C) c.404-15G>C (n.404-15G>C) n.606-15G>C | gnomAD v4 |
11 | g.17527056A>C | CA2612675220 | USH1C | c.497-16T>G (n.497-16T>G) c.530-16T>G (n.530-16T>G) c.404-16T>G (n.404-16T>G) n.606-16T>G | gnomAD v4 |
11 | g.17527059_17527060insAACAG | CA1955186890 | USH1C | c.497-16_497-15insTCTGT (n.497-16_497-15insTCTGT) c.530-16_530-15insTCTGT (n.530-16_530-15insTCTGT) c.404-16_404-15insTCTGT (n.404-16_404-15insTCTGT) n.606-16_606-15insTCTGT | dbSNP gnomAD v4 |
11 | g.17527057C>T | CA2612675221 | USH1C | c.497-17G>A (n.497-17G>A) c.530-17G>A (n.530-17G>A) c.404-17G>A (n.404-17G>A) n.606-17G>A | gnomAD v4 |
11 | g.17527058A= | CA1955186891 | USH1C | c.497-18T= (n.497-18T=) c.530-18T= (n.530-18T=) c.404-18T= (n.404-18T=) n.606-18T= | |
11 | g.17527058A>T | CA2612675222 | USH1C | c.497-18T>A (n.497-18T>A) c.530-18T>A (n.530-18T>A) c.404-18T>A (n.404-18T>A) n.606-18T>A | gnomAD v4 |
11 | g.17527061_17527067del | CA2790593396 | USH1C | c.497-24_497-18del (n.497-24_497-18del) c.530-24_530-18del (n.530-24_530-18del) c.404-24_404-18del (n.404-24_404-18del) n.606-24_606-18del | |
11 | g.17527059G>A | CA597668774 | USH1C | c.497-19C>T (n.497-19C>T) c.530-19C>T (n.530-19C>T) c.404-19C>T (n.404-19C>T) n.606-19C>T | dbSNP gnomAD v2 |
11 | g.17527059G= | CA1955186892 | USH1C | c.497-19C= (n.497-19C=) c.530-19C= (n.530-19C=) c.404-19C= (n.404-19C=) n.606-19C= | |
11 | g.17527059G>T | CA2612675224 | USH1C | c.497-19C>A (n.497-19C>A) c.530-19C>A (n.530-19C>A) c.404-19C>A (n.404-19C>A) n.606-19C>A | gnomAD v4 |
11 | g.17527062dup | CA674239384 | USH1C | c.497-19dup (n.497-19dup) c.530-19dup (n.530-19dup) c.404-19dup (n.404-19dup) n.606-19dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527060G>A | CA218461395 | USH1C | c.497-20C>T (n.497-20C>T) c.530-20C>T (n.530-20C>T) c.404-20C>T (n.404-20C>T) n.606-20C>T | dbSNP gnomAD v4 |
11 | g.17527060G= | CA1955186893 | USH1C | c.497-20C= (n.497-20C=) c.530-20C= (n.530-20C=) c.404-20C= (n.404-20C=) n.606-20C= | |
11 | g.17527060G>T | CA2723075854 | USH1C | c.497-20C>A (n.497-20C>A) c.530-20C>A (n.530-20C>A) c.404-20C>A (n.404-20C>A) n.606-20C>A | dbSNP |
11 | g.17527060_17527061insACA | CA2790593397 | USH1C | c.497-21_497-20insTGT (n.497-21_497-20insTGT) c.530-21_530-20insTGT (n.530-21_530-20insTGT) c.404-21_404-20insTGT (n.404-21_404-20insTGT) n.606-21_606-20insTGT | |
11 | g.17527061G>A | CA2790593398 | USH1C | c.497-21C>T (n.497-21C>T) c.530-21C>T (n.530-21C>T) c.404-21C>T (n.404-21C>T) n.606-21C>T | |
11 | g.17527061G= | CA1955186894 | USH1C | c.497-21C= (n.497-21C=) c.530-21C= (n.530-21C=) c.404-21C= (n.404-21C=) n.606-21C= | |
11 | g.17527061G>T | CA1955186895 | USH1C | c.497-21C>A (n.497-21C>A) c.530-21C>A (n.530-21C>A) c.404-21C>A (n.404-21C>A) n.606-21C>A | dbSNP gnomAD v4 |
11 | g.17527061_17527062insAC | CA2790593401 | USH1C | c.497-22_497-21insGT (n.497-22_497-21insGT) c.530-22_530-21insGT (n.530-22_530-21insGT) c.404-22_404-21insGT (n.404-22_404-21insGT) n.606-22_606-21insGT | |
11 | g.17527062G>A | CA2790593399 | USH1C | c.497-22C>T (n.497-22C>T) c.530-22C>T (n.530-22C>T) c.404-22C>T (n.404-22C>T) n.606-22C>T | |
11 | g.17527062G>C | CA2790593400 | USH1C | c.497-22C>G (n.497-22C>G) c.530-22C>G (n.530-22C>G) c.404-22C>G (n.404-22C>G) n.606-22C>G | |
11 | g.17527062G= | CA1955186896 | USH1C | c.497-22C= (n.497-22C=) c.530-22C= (n.530-22C=) c.404-22C= (n.404-22C=) n.606-22C= | |
11 | g.17527062G>T | CA597668776 | USH1C | c.497-22C>A (n.497-22C>A) c.530-22C>A (n.530-22C>A) c.404-22C>A (n.404-22C>A) n.606-22C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527063T>A | CA2790593402 | USH1C | c.497-23A>T (n.497-23A>T) c.530-23A>T (n.530-23A>T) c.404-23A>T (n.404-23A>T) n.606-23A>T | |
11 | g.17527063T>G | CA2612675226 | USH1C | c.497-23A>C (n.497-23A>C) c.530-23A>C (n.530-23A>C) c.404-23A>C (n.404-23A>C) n.606-23A>C | gnomAD v4 |
11 | g.17527064T>C | CA674239392 | USH1C | c.497-24A>G (n.497-24A>G) c.530-24A>G (n.530-24A>G) c.404-24A>G (n.404-24A>G) n.606-24A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527064T= | CA1955186897 | USH1C | c.497-24A= (n.497-24A=) c.530-24A= (n.530-24A=) c.404-24A= (n.404-24A=) n.606-24A= | |
11 | g.17527065A>C | CA2612675227 | USH1C | c.497-25T>G (n.497-25T>G) c.530-25T>G (n.530-25T>G) c.404-25T>G (n.404-25T>G) n.606-25T>G | gnomAD v4 |
11 | g.17527065_17527066delinsAG | CA1955186898 | USH1C | c.497-26_497-25delinsCT (n.497-26_497-25delinsCT) c.530-26_530-25delinsCT (n.530-26_530-25delinsCT) c.404-26_404-25delinsCT (n.404-26_404-25delinsCT) n.606-26_606-25delinsCT | |
11 | g.17527067del | CA597668778 | USH1C | c.497-26del (n.497-26del) c.530-26del (n.530-26del) c.404-26del (n.404-26del) n.606-26del | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527066_17527071del | CA2790593403 | USH1C | c.497-31_497-26del (n.497-31_497-26del) c.530-31_530-26del (n.530-31_530-26del) c.404-31_404-26del (n.404-31_404-26del) n.606-31_606-26del | |
11 | g.17527067G>A | CA2790593405 | USH1C | c.497-27C>T (n.497-27C>T) c.530-27C>T (n.530-27C>T) c.404-27C>T (n.404-27C>T) n.606-27C>T | |
11 | g.17527067G>T | CA2790593406 | USH1C | c.497-27C>A (n.497-27C>A) c.530-27C>A (n.530-27C>A) c.404-27C>A (n.404-27C>A) n.606-27C>A | |
11 | g.17527067_17527069del | CA2790593404 | USH1C | c.497-29_497-27del (n.497-29_497-27del) c.530-29_530-27del (n.530-29_530-27del) c.404-29_404-27del (n.404-29_404-27del) n.606-29_606-27del | |
11 | g.17527068A= | CA1955186899 | USH1C | c.497-28T= (n.497-28T=) c.530-28T= (n.530-28T=) c.404-28T= (n.404-28T=) n.606-28T= | |
11 | g.17527068A>C | CA2612675229 | USH1C | c.497-28T>G (n.497-28T>G) c.530-28T>G (n.530-28T>G) c.404-28T>G (n.404-28T>G) n.606-28T>G | gnomAD v4 |
11 | g.17527068A>G | CA597668779 | USH1C | c.497-28T>C (n.497-28T>C) c.530-28T>C (n.530-28T>C) c.404-28T>C (n.404-28T>C) n.606-28T>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527069C>A | CA597668780 | USH1C | c.497-29G>T (n.497-29G>T) c.530-29G>T (n.530-29G>T) c.404-29G>T (n.404-29G>T) n.606-29G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527069C= | CA1955186900 | USH1C | c.497-29G= (n.497-29G=) c.530-29G= (n.530-29G=) c.404-29G= (n.404-29G=) n.606-29G= | |
11 | g.17527069dup | CA2513034635 | USH1C | c.497-29dup (n.497-29dup) c.530-29dup (n.530-29dup) c.404-29dup (n.404-29dup) n.606-29dup | |
11 | g.17527070A= | CA1955186901 | USH1C | c.497-30T= (n.497-30T=) c.530-30T= (n.530-30T=) c.404-30T= (n.404-30T=) n.606-30T= | |
11 | g.17527070A>T | CA935547038 | USH1C | c.497-30T>A (n.497-30T>A) c.530-30T>A (n.530-30T>A) c.404-30T>A (n.404-30T>A) n.606-30T>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527070_17527115delinsAGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCT | CA1955186903 | USH1C | c.497-75_497-30delinsAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT (n.497-75_497-30delinsAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT) c.530-75_530-30delinsAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT (n.530-75_530-30delinsAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT) c.404-75_404-30delinsAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT (n.404-75_404-30delinsAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT) n.606-75_606-30delinsAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | |
11 | g.17527070_17527160delinsAGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCT | CA1955186902 | USH1C | c.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT (n.496+63_497-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT) c.529+63_530-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT (n.529+63_530-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT) c.403+63_404-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT (n.403+63_404-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT) n.605+63_606-30delinsAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCT | |
11 | g.17527070_17527071insCAG | CA2790593412 | USH1C | c.497-31_497-30insCTG (n.497-31_497-30insCTG) c.530-31_530-30insCTG (n.530-31_530-30insCTG) c.404-31_404-30insCTG (n.404-31_404-30insCTG) n.606-31_606-30insCTG | |
11 | g.17527071G>A | CA2790593409 | USH1C | c.497-31C>T (n.497-31C>T) c.530-31C>T (n.530-31C>T) c.404-31C>T (n.404-31C>T) n.606-31C>T | |
11 | g.17527071G>C | CA2790593410 | USH1C | c.497-31C>G (n.497-31C>G) c.530-31C>G (n.530-31C>G) c.404-31C>G (n.404-31C>G) n.606-31C>G | |
11 | g.17527072_17527073insGCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGC | CA2790593413 | USH1C | c.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGCGC (n.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGCGC) c.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGCGC (n.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGCGC) c.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGCGC (n.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGCGC) n.606-31_606-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGCGC | |
11 | g.17527074_17527075insGGCCCCCCCCCCCCCCCCCCCCCCCCATGGAGTACTGACCTGCTC | CA2612675233 | USH1C | c.497-31_497-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGCCGAGC (n.497-31_497-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGCCGAGC) c.530-31_530-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGCCGAGC (n.530-31_530-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGCCGAGC) c.404-31_404-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGCCGAGC (n.404-31_404-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGCCGAGC) n.606-31_606-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGCCGAGC | gnomAD v4 |
11 | g.17527078_17527079insCCCCCCCCCCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCC | CA918828289 | USH1C | c.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC (n.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC) c.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC (n.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC) c.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC (n.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC) n.606-31_606-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC | dbSNP |
11 | g.17527078_17527079insCCCCCCCCCCCCCCCCCCCCCCATGGAGTACTGTCCTGCTCCCCC | CA2612675239 | USH1C | c.497-31_497-30insAGGACAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.497-31_497-30insAGGACAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC) c.530-31_530-30insAGGACAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.530-31_530-30insAGGACAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC) c.404-31_404-30insAGGACAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.404-31_404-30insAGGACAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC) n.606-31_606-30insAGGACAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC | gnomAD v4 |
11 | g.17527078_17527079insCCCCCCCCCCCCCCCCCCCCCCATGGAGTACTGACCTGCTCCCCC | CA918828290 | USH1C | c.497-31_497-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.497-31_497-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC) c.530-31_530-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.530-31_530-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC) c.404-31_404-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.404-31_404-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC) n.606-31_606-30insAGGTCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC | dbSNP |
11 | g.17527078_17527079insCCCCCCCCCCCCCCCCCCCGTCATGGAGTACTGACCTGCTCCCCC | CA918828295 | USH1C | c.497-31_497-30insAGGTCAGTACTCCATGACGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.497-31_497-30insAGGTCAGTACTCCATGACGGGGGGGGGGGGGGGGGGGGGGGGAGC) c.530-31_530-30insAGGTCAGTACTCCATGACGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.530-31_530-30insAGGTCAGTACTCCATGACGGGGGGGGGGGGGGGGGGGGGGGGAGC) c.404-31_404-30insAGGTCAGTACTCCATGACGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.404-31_404-30insAGGTCAGTACTCCATGACGGGGGGGGGGGGGGGGGGGGGGGGAGC) n.606-31_606-30insAGGTCAGTACTCCATGACGGGGGGGGGGGGGGGGGGGGGGGGAGC | dbSNP |
11 | g.17527078_17527079insCCCCCCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCC | CA918828286 | USH1C | c.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGGGGGGGGGGGAGC (n.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGGGGGGGGGGGAGC) c.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGGGGGGGGGGGAGC (n.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGGGGGGGGGGGAGC) c.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGGGGGGGGGGGAGC (n.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGGGGGGGGGGGAGC) n.606-31_606-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGGGGGGGGGGGAGC | dbSNP |
11 | g.17527078_17527079insCCCCCCCCCCCCCCCCACCGTCATGGAGTACTGACCTGCTCCCCC | CA918828294 | USH1C | c.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGGGGGGGGGGGGGGGGGGGAGC (n.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGGGGGGGGGGGGGGGGGGGAGC) c.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGGGGGGGGGGGGGGGGGGGAGC (n.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGGGGGGGGGGGGGGGGGGGAGC) c.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGGGGGGGGGGGGGGGGGGGAGC (n.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGGGGGGGGGGGGGGGGGGGAGC) n.606-31_606-30insAGGTCAGTACTCCATGACGGTGGGGGGGGGGGGGGGGGGGGGAGC | dbSNP |
11 | g.17527078_17527079insCCCCCCCCCCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCC | CA918828288 | USH1C | c.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC (n.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC) c.530-31_530-30insAGGGCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC (n.530-31_530-30insAGGGCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC) c.404-31_404-30insAGGGCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC (n.404-31_404-30insAGGGCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC) n.606-31_606-30insAGGGCAGTACTCCATGACGGTGGGAGGGGGGGGGGGGGGGGGAGC | dbSNP |
11 | g.17527078_17527079insCCCCCCCCCCCCCCCCCCCCCCATGGAGTACTGCCCTGCTCCCCC | CA2612675240 | USH1C | c.497-31_497-30insAGGGCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.497-31_497-30insAGGGCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC) c.530-31_530-30insAGGGCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.530-31_530-30insAGGGCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC) c.404-31_404-30insAGGGCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC (n.404-31_404-30insAGGGCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC) n.606-31_606-30insAGGGCAGTACTCCATGGGGGGGGGGGGGGGGGGGGGGGGGGGAGC | gnomAD v4 |
11 | g.17527073_17527080del | CA935547057 | USH1C | c.497-38_497-31del (n.497-38_497-31del) c.530-38_530-31del (n.530-38_530-31del) c.404-38_404-31del (n.404-38_404-31del) n.606-38_606-31del | gnomAD v3 gnomAD v4 |
11 | g.17527082_17527083insCCCCCCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCC | CA2741153352 | USH1C | c.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGCGGGGGAGC (n.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGCGGGGGAGC) c.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGCGGGGGAGC (n.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGCGGGGGAGC) c.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGCGGGGGAGC (n.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGCGGGGGAGC) n.606-31_606-30insAGGTCAGTACTCCATGACGGTGGGAGGGGGGGGGGGCGGGGGAGC | |
11 | g.17527111_17527112insCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTG | CA935547045 | USH1C | c.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-31_530-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-31_530-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-31_404-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-31_404-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-31_606-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527111_17527112insCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTG | CA2612675235 | USH1C | c.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-31_530-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-31_530-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-31_404-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-31_404-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-31_606-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | gnomAD v4 |
11 | g.17527123_17527124insACCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCC | CA2612675238 | USH1C | c.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-31_530-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-31_530-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-31_404-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-31_404-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-31_606-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | gnomAD v4 |
11 | g.17527142_17527143insATCATGGAGTACTGCCCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACC | CA935547058 | USH1C | c.497-31_497-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-31_497-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-31_530-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-31_530-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-31_404-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-31_404-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-31_606-30insAGGGCAGTACTCCATGATGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | gnomAD v3 gnomAD v4 |
11 | g.17527156_17527157insACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTG | CA918828287 | USH1C | c.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.497-31_497-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.530-31_530-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) c.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC (n.404-31_404-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC) n.606-31_606-30insAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC | dbSNP |
11 | g.17527112_17527156dup | CA597668782 | USH1C | c.497-75_497-31dup (n.497-75_497-31dup) c.530-75_530-31dup (n.530-75_530-31dup) c.404-75_404-31dup (n.404-75_404-31dup) n.606-75_606-31dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527112_17527156del | CA473302313 | USH1C | c.497-75_497-31del (n.497-75_497-31del) c.530-75_530-31del (n.530-75_530-31del) c.404-75_404-31del (n.404-75_404-31del) n.606-75_606-31del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527112_17527201del | CA935547049 | USH1C | c.496+63_497-31del (n.496+63_497-31del) c.529+63_530-31del (n.529+63_530-31del) c.403+63_404-31del (n.403+63_404-31del) n.605+63_606-31del | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527071_17527072insAGA | CA2790593419 | USH1C | c.497-32_497-31insTCT (n.497-32_497-31insTCT) c.530-32_530-31insTCT (n.530-32_530-31insTCT) c.404-32_404-31insTCT (n.404-32_404-31insTCT) n.606-32_606-31insTCT | |
11 | g.17527071_17527072insACAA | CA2790593420 | USH1C | c.497-32_497-31insTTGT (n.497-32_497-31insTTGT) c.530-32_530-31insTTGT (n.530-32_530-31insTTGT) c.404-32_404-31insTTGT (n.404-32_404-31insTTGT) n.606-32_606-31insTTGT | |
11 | g.17527071_17527072insAGAT | CA2790593418 | USH1C | c.497-32_497-31insATCT (n.497-32_497-31insATCT) c.530-32_530-31insATCT (n.530-32_530-31insATCT) c.404-32_404-31insATCT (n.404-32_404-31insATCT) n.606-32_606-31insATCT | |
11 | g.17527072C>A | CA2790593417 | USH1C | c.497-32G>T (n.497-32G>T) c.530-32G>T (n.530-32G>T) c.404-32G>T (n.404-32G>T) n.606-32G>T | |
11 | g.17527072C>T | CA2790593416 | USH1C | c.497-32G>A (n.497-32G>A) c.530-32G>A (n.530-32G>A) c.404-32G>A (n.404-32G>A) n.606-32G>A | |
11 | g.17527077_17527090del | CA2612675242 | USH1C | c.497-45_497-32del (n.497-45_497-32del) c.530-45_530-32del (n.530-45_530-32del) c.404-45_404-32del (n.404-45_404-32del) n.606-45_606-32del | gnomAD v4 |
11 | g.17527073T>A | CA2790593422 | USH1C | c.497-33A>T (n.497-33A>T) c.530-33A>T (n.530-33A>T) c.404-33A>T (n.404-33A>T) n.606-33A>T | |
11 | g.17527073T>C | CA5905004 | USH1C | c.497-33A>G (n.497-33A>G) c.530-33A>G (n.530-33A>G) c.404-33A>G (n.404-33A>G) n.606-33A>G | dbSNP ExAC gnomAD v3 gnomAD v4 |
11 | g.17527073T>G | CA218461417 | USH1C | c.497-33A>C (n.497-33A>C) c.530-33A>C (n.530-33A>C) c.404-33A>C (n.404-33A>C) n.606-33A>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527073T= | CA1955186904 | USH1C | c.497-33A= (n.497-33A=) c.530-33A= (n.530-33A=) c.404-33A= (n.404-33A=) n.606-33A= | |
11 | g.17527073_17527074insAGTG | CA2790593432 | USH1C | c.497-34_497-33insCACT (n.497-34_497-33insCACT) c.530-34_530-33insCACT (n.530-34_530-33insCACT) c.404-34_404-33insCACT (n.404-34_404-33insCACT) n.606-34_606-33insCACT | |
11 | g.17527074C>A | CA473302316 | USH1C | c.497-34G>T (n.497-34G>T) c.530-34G>T (n.530-34G>T) c.404-34G>T (n.404-34G>T) n.606-34G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527074C= | CA1955186905 | USH1C | c.497-34G= (n.497-34G=) c.530-34G= (n.530-34G=) c.404-34G= (n.404-34G=) n.606-34G= | |
11 | g.17527074C>G | CA1955186906 | USH1C | c.497-34G>C (n.497-34G>C) c.530-34G>C (n.530-34G>C) c.404-34G>C (n.404-34G>C) n.606-34G>C | dbSNP |
11 | g.17527074_17527075insGCCC | CA2790593430 | USH1C | c.497-34_497-33insGGCG (n.497-34_497-33insGGCG) c.530-34_530-33insGGCG (n.530-34_530-33insGGCG) c.404-34_404-33insGGCG (n.404-34_404-33insGGCG) n.606-34_606-33insGGCG | |
11 | g.17527074_17527075insGCCCC | CA2612675261 | USH1C | c.497-34_497-33insGGGCG (n.497-34_497-33insGGGCG) c.530-34_530-33insGGGCG (n.530-34_530-33insGGGCG) c.404-34_404-33insGGGCG (n.404-34_404-33insGGGCG) n.606-34_606-33insGGGCG | gnomAD v4 |
11 | g.17527075_17527076insGCC | CA2612675270 | USH1C | c.497-34_497-33insCGG (n.497-34_497-33insCGG) c.530-34_530-33insCGG (n.530-34_530-33insCGG) c.404-34_404-33insCGG (n.404-34_404-33insCGG) n.606-34_606-33insCGG | gnomAD v4 |
11 | g.17527075_17527076insGCCC | CA2612675253 | USH1C | c.497-34_497-33insGCGG (n.497-34_497-33insGCGG) c.530-34_530-33insGCGG (n.530-34_530-33insGCGG) c.404-34_404-33insGCGG (n.404-34_404-33insGCGG) n.606-34_606-33insGCGG | gnomAD v4 |
11 | g.17527075_17527076insACCCC | CA2612675274 | USH1C | c.497-34_497-33insGGTGG (n.497-34_497-33insGGTGG) c.530-34_530-33insGGTGG (n.530-34_530-33insGGTGG) c.404-34_404-33insGGTGG (n.404-34_404-33insGGTGG) n.606-34_606-33insGGTGG | gnomAD v4 |
11 | g.17527075_17527076insGCCCC | CA2612675255 | USH1C | c.497-34_497-33insGGCGG (n.497-34_497-33insGGCGG) c.530-34_530-33insGGCGG (n.530-34_530-33insGGCGG) c.404-34_404-33insGGCGG (n.404-34_404-33insGGCGG) n.606-34_606-33insGGCGG | gnomAD v4 |
11 | g.17527075_17527076insGCCCCC | CA2612675257 | USH1C | c.497-34_497-33insGGGCGG (n.497-34_497-33insGGGCGG) c.530-34_530-33insGGGCGG (n.530-34_530-33insGGGCGG) c.404-34_404-33insGGGCGG (n.404-34_404-33insGGGCGG) n.606-34_606-33insGGGCGG | gnomAD v4 |
11 | g.17527075_17527076insGCCCCCC | CA2612675258 | USH1C | c.497-34_497-33insGGGGCGG (n.497-34_497-33insGGGGCGG) c.530-34_530-33insGGGGCGG (n.530-34_530-33insGGGGCGG) c.404-34_404-33insGGGGCGG (n.404-34_404-33insGGGGCGG) n.606-34_606-33insGGGGCGG | gnomAD v4 |
11 | g.17527075_17527076insGGCCCCCCCC | CA2612675260 | USH1C | c.497-34_497-33insGGGGGGCCGG (n.497-34_497-33insGGGGGGCCGG) c.530-34_530-33insGGGGGGCCGG (n.530-34_530-33insGGGGGGCCGG) c.404-34_404-33insGGGGGGCCGG (n.404-34_404-33insGGGGGGCCGG) n.606-34_606-33insGGGGGGCCGG | gnomAD v4 |
11 | g.17527076_17527077insGCCC | CA2612675282 | USH1C | c.497-34_497-33insCGGG (n.497-34_497-33insCGGG) c.530-34_530-33insCGGG (n.530-34_530-33insCGGG) c.404-34_404-33insCGGG (n.404-34_404-33insCGGG) n.606-34_606-33insCGGG | gnomAD v4 |
11 | g.17527076_17527077insGCCCC | CA2612675271 | USH1C | c.497-34_497-33insGCGGG (n.497-34_497-33insGCGGG) c.530-34_530-33insGCGGG (n.530-34_530-33insGCGGG) c.404-34_404-33insGCGGG (n.404-34_404-33insGCGGG) n.606-34_606-33insGCGGG | gnomAD v4 |
11 | g.17527074_17527078del | CA2612675266 | USH1C | c.497-38_497-34del (n.497-38_497-34del) c.530-38_530-34del (n.530-38_530-34del) c.404-38_404-34del (n.404-38_404-34del) n.606-38_606-34del | gnomAD v4 |
11 | g.17527078_17527079insCCCCCC | CA597668790 | USH1C | c.497-34_497-33insGGGGGG (n.497-34_497-33insGGGGGG) c.530-34_530-33insGGGGGG (n.530-34_530-33insGGGGGG) c.404-34_404-33insGGGGGG (n.404-34_404-33insGGGGGG) n.606-34_606-33insGGGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527078_17527079insCCCCCCC | CA597668791 | USH1C | c.497-34_497-33insGGGGGGG (n.497-34_497-33insGGGGGGG) c.530-34_530-33insGGGGGGG (n.530-34_530-33insGGGGGGG) c.404-34_404-33insGGGGGGG (n.404-34_404-33insGGGGGGG) n.606-34_606-33insGGGGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527078_17527079insCCCCCCCC | CA597668789 | USH1C | c.497-34_497-33insGGGGGGGG (n.497-34_497-33insGGGGGGGG) c.530-34_530-33insGGGGGGGG (n.530-34_530-33insGGGGGGGG) c.404-34_404-33insGGGGGGGG (n.404-34_404-33insGGGGGGGG) n.606-34_606-33insGGGGGGGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527078_17527079insCCCCCCCCC | CA935547074 | USH1C | c.497-34_497-33insGGGGGGGGG (n.497-34_497-33insGGGGGGGGG) c.530-34_530-33insGGGGGGGGG (n.530-34_530-33insGGGGGGGGG) c.404-34_404-33insGGGGGGGGG (n.404-34_404-33insGGGGGGGGG) n.606-34_606-33insGGGGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527078_17527079insCCCCCCCCCC | CA2612675281 | USH1C | c.497-34_497-33insGGGGGGGGGG (n.497-34_497-33insGGGGGGGGGG) c.530-34_530-33insGGGGGGGGGG (n.530-34_530-33insGGGGGGGGGG) c.404-34_404-33insGGGGGGGGGG (n.404-34_404-33insGGGGGGGGGG) n.606-34_606-33insGGGGGGGGGG | gnomAD v4 |
11 | g.17527078_17527079insCCCCCCCCCCCCCCCCCCCCCCCC | CA597668788 | USH1C | c.497-34_497-33insGGGGGGGGGGGGGGGGGGGGGGGG (n.497-34_497-33insGGGGGGGGGGGGGGGGGGGGGGGG) c.530-34_530-33insGGGGGGGGGGGGGGGGGGGGGGGG (n.530-34_530-33insGGGGGGGGGGGGGGGGGGGGGGGG) c.404-34_404-33insGGGGGGGGGGGGGGGGGGGGGGGG (n.404-34_404-33insGGGGGGGGGGGGGGGGGGGGGGGG) n.606-34_606-33insGGGGGGGGGGGGGGGGGGGGGGGG | gnomAD v2 |
11 | g.17527078dup | CA2574769461 | USH1C | c.497-34dup (n.497-34dup) c.530-34dup (n.530-34dup) c.404-34dup (n.404-34dup) n.606-34dup | gnomAD v4 |
11 | g.17527077_17527078dup | CA2574769463 | USH1C | c.497-35_497-34dup (n.497-35_497-34dup) c.530-35_530-34dup (n.530-35_530-34dup) c.404-35_404-34dup (n.404-35_404-34dup) n.606-35_606-34dup | gnomAD v4 |
11 | g.17527076_17527078dup | CA2612675276 | USH1C | c.497-36_497-34dup (n.497-36_497-34dup) c.530-36_530-34dup (n.530-36_530-34dup) c.404-36_404-34dup (n.404-36_404-34dup) n.606-36_606-34dup | gnomAD v4 |
11 | g.17527075_17527078dup | CA2612675278 | USH1C | c.497-37_497-34dup (n.497-37_497-34dup) c.530-37_530-34dup (n.530-37_530-34dup) c.404-37_404-34dup (n.404-37_404-34dup) n.606-37_606-34dup | gnomAD v4 |
11 | g.17527074_17527078dup | CA2574769465 | USH1C | c.497-38_497-34dup (n.497-38_497-34dup) c.530-38_530-34dup (n.530-38_530-34dup) c.404-38_404-34dup (n.404-38_404-34dup) n.606-38_606-34dup | gnomAD v4 |
11 | g.17527078del | CA597668793 | USH1C | c.497-34del (n.497-34del) c.530-34del (n.530-34del) c.404-34del (n.404-34del) n.606-34del | gnomAD v2 gnomAD v4 |
11 | g.17527077_17527078del | CA2612675262 | USH1C | c.497-35_497-34del (n.497-35_497-34del) c.530-35_530-34del (n.530-35_530-34del) c.404-35_404-34del (n.404-35_404-34del) n.606-35_606-34del | gnomAD v4 |
11 | g.17527076_17527078del | CA935547069 | USH1C | c.497-36_497-34del (n.497-36_497-34del) c.530-36_530-34del (n.530-36_530-34del) c.404-36_404-34del (n.404-36_404-34del) n.606-36_606-34del | gnomAD v3 gnomAD v4 |
11 | g.17527075_17527078del | CA2612675264 | USH1C | c.497-37_497-34del (n.497-37_497-34del) c.530-37_530-34del (n.530-37_530-34del) c.404-37_404-34del (n.404-37_404-34del) n.606-37_606-34del | gnomAD v4 |
11 | g.17527076_17527094del | CA2612675268 | USH1C | c.497-52_497-34del (n.497-52_497-34del) c.530-52_530-34del (n.530-52_530-34del) c.404-52_404-34del (n.404-52_404-34del) n.606-52_606-34del | gnomAD v4 |
11 | g.17527074_17527075insG | CA2612675295 | USH1C | c.497-35_497-34insC (n.497-35_497-34insC) c.530-35_530-34insC (n.530-35_530-34insC) c.404-35_404-34insC (n.404-35_404-34insC) n.606-35_606-34insC | gnomAD v4 |
11 | g.17527074_17527075insT | CA2790593435 | USH1C | c.497-35_497-34insA (n.497-35_497-34insA) c.530-35_530-34insA (n.530-35_530-34insA) c.404-35_404-34insA (n.404-35_404-34insA) n.606-35_606-34insA | |
11 | g.17527074_17527075insGG | CA2612675291 | USH1C | c.497-35_497-34insCC (n.497-35_497-34insCC) c.530-35_530-34insCC (n.530-35_530-34insCC) c.404-35_404-34insCC (n.404-35_404-34insCC) n.606-35_606-34insCC | gnomAD v4 |
11 | g.17527074_17527075insACT | CA2790593433 | USH1C | c.497-35_497-34insAGT (n.497-35_497-34insAGT) c.530-35_530-34insAGT (n.530-35_530-34insAGT) c.404-35_404-34insAGT (n.404-35_404-34insAGT) n.606-35_606-34insAGT | |
11 | g.17527074_17527075insGGG | CA2612675294 | USH1C | c.497-35_497-34insCCC (n.497-35_497-34insCCC) c.530-35_530-34insCCC (n.530-35_530-34insCCC) c.404-35_404-34insCCC (n.404-35_404-34insCCC) n.606-35_606-34insCCC | gnomAD v4 |
11 | g.17527074_17527075insAGAT | CA2790593434 | USH1C | c.497-35_497-34insATCT (n.497-35_497-34insATCT) c.530-35_530-34insATCT (n.530-35_530-34insATCT) c.404-35_404-34insATCT (n.404-35_404-34insATCT) n.606-35_606-34insATCT | |
11 | g.17527075C>A | CA2554689298 | USH1C | c.497-35G>T (n.497-35G>T) c.530-35G>T (n.530-35G>T) c.404-35G>T (n.404-35G>T) n.606-35G>T | |
11 | g.17527075C>G | CA2612675292 | USH1C | c.497-35G>C (n.497-35G>C) c.530-35G>C (n.530-35G>C) c.404-35G>C (n.404-35G>C) n.606-35G>C | gnomAD v4 |
11 | g.17527075_17527076insGC | CA2612675296 | USH1C | c.497-35_497-34insCG (n.497-35_497-34insCG) c.530-35_530-34insCG (n.530-35_530-34insCG) c.404-35_404-34insCG (n.404-35_404-34insCG) n.606-35_606-34insCG | gnomAD v4 |
11 | g.17527076_17527077insGCC | CA2612675297 | USH1C | c.497-35_497-34insCGG (n.497-35_497-34insCGG) c.530-35_530-34insCGG (n.530-35_530-34insCGG) c.404-35_404-34insCGG (n.404-35_404-34insCGG) n.606-35_606-34insCGG | gnomAD v4 |
11 | g.17527075_17527102del | CA2612675293 | USH1C | c.497-62_497-35del (n.497-62_497-35del) c.530-62_530-35del (n.530-62_530-35del) c.404-62_404-35del (n.404-62_404-35del) n.606-62_606-35del | gnomAD v4 |
11 | g.17527075_17527118delinsCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCT | CA1955186907 | USH1C | c.497-78_497-35delinsAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG (n.497-78_497-35delinsAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG) c.530-78_530-35delinsAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG (n.530-78_530-35delinsAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG) c.404-78_404-35delinsAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG (n.404-78_404-35delinsAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG) n.606-78_606-35delinsAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGG | |
11 | g.17527075_17527076insA | CA2790593445 | USH1C | c.497-36_497-35insT (n.497-36_497-35insT) c.530-36_530-35insT (n.530-36_530-35insT) c.404-36_404-35insT (n.404-36_404-35insT) n.606-36_606-35insT | |
11 | g.17527075_17527076insG | CA2612675301 | USH1C | c.497-36_497-35insC (n.497-36_497-35insC) c.530-36_530-35insC (n.530-36_530-35insC) c.404-36_404-35insC (n.404-36_404-35insC) n.606-36_606-35insC | gnomAD v4 |
11 | g.17527075_17527076insGG | CA2612675302 | USH1C | c.497-36_497-35insCC (n.497-36_497-35insCC) c.530-36_530-35insCC (n.530-36_530-35insCC) c.404-36_404-35insCC (n.404-36_404-35insCC) n.606-36_606-35insCC | gnomAD v4 |
11 | g.17527075_17527076insACA | CA2790593444 | USH1C | c.497-36_497-35insTGT (n.497-36_497-35insTGT) c.530-36_530-35insTGT (n.530-36_530-35insTGT) c.404-36_404-35insTGT (n.404-36_404-35insTGT) n.606-36_606-35insTGT | |
11 | g.17527075_17527076insACT | CA2790593438 | USH1C | c.497-36_497-35insAGT (n.497-36_497-35insAGT) c.530-36_530-35insAGT (n.530-36_530-35insAGT) c.404-36_404-35insAGT (n.404-36_404-35insAGT) n.606-36_606-35insAGT | |
11 | g.17527075_17527076insAGA | CA2790593443 | USH1C | c.497-36_497-35insTCT (n.497-36_497-35insTCT) c.530-36_530-35insTCT (n.530-36_530-35insTCT) c.404-36_404-35insTCT (n.404-36_404-35insTCT) n.606-36_606-35insTCT | |
11 | g.17527075_17527076insAGT | CA2790593442 | USH1C | c.497-36_497-35insACT (n.497-36_497-35insACT) c.530-36_530-35insACT (n.530-36_530-35insACT) c.404-36_404-35insACT (n.404-36_404-35insACT) n.606-36_606-35insACT | |
11 | g.17527076C>A | CA5905005 | USH1C | c.497-36G>T (n.497-36G>T) c.530-36G>T (n.530-36G>T) c.404-36G>T (n.404-36G>T) n.606-36G>T | dbSNP ExAC gnomAD v4 |
11 | g.17527076C= | CA1955186908 | USH1C | c.497-36G= (n.497-36G=) c.530-36G= (n.530-36G=) c.404-36G= (n.404-36G=) n.606-36G= | |
11 | g.17527076C>G | CA2612675304 | USH1C | c.497-36G>C (n.497-36G>C) c.530-36G>C (n.530-36G>C) c.404-36G>C (n.404-36G>C) n.606-36G>C | gnomAD v4 |
11 | g.17527076C>T | CA2612675306 | USH1C | c.497-36G>A (n.497-36G>A) c.530-36G>A (n.530-36G>A) c.404-36G>A (n.404-36G>A) n.606-36G>A | gnomAD v4 |
11 | g.17527076_17527077insAC | CA2790593441 | USH1C | c.497-36_497-35insTG (n.497-36_497-35insTG) c.530-36_530-35insTG (n.530-36_530-35insTG) c.404-36_404-35insTG (n.404-36_404-35insTG) n.606-36_606-35insTG | |
11 | g.17527076_17527077insGC | CA2612675300 | USH1C | c.497-36_497-35insCG (n.497-36_497-35insCG) c.530-36_530-35insCG (n.530-36_530-35insCG) c.404-36_404-35insCG (n.404-36_404-35insCG) n.606-36_606-35insCG | gnomAD v4 |
11 | g.17527076_17527102del | CA2612675303 | USH1C | c.497-62_497-36del (n.497-62_497-36del) c.530-62_530-36del (n.530-62_530-36del) c.404-62_404-36del (n.404-62_404-36del) n.606-62_606-36del | gnomAD v4 |
11 | g.17527079_17527121del | CA918828296 | USH1C | c.497-78_497-36del (n.497-78_497-36del) c.530-78_530-36del (n.530-78_530-36del) c.404-78_404-36del (n.404-78_404-36del) n.606-78_606-36del | dbSNP |
11 | g.17527076_17527077insA | CA2790593446 | USH1C | c.497-37_497-36insT (n.497-37_497-36insT) c.530-37_530-36insT (n.530-37_530-36insT) c.404-37_404-36insT (n.404-37_404-36insT) n.606-37_606-36insT | |
11 | g.17527076_17527077insG | CA2612675311 | USH1C | c.497-37_497-36insC (n.497-37_497-36insC) c.530-37_530-36insC (n.530-37_530-36insC) c.404-37_404-36insC (n.404-37_404-36insC) n.606-37_606-36insC | gnomAD v4 |
11 | g.17527076_17527077insAGA | CA2790593448 | USH1C | c.497-37_497-36insTCT (n.497-37_497-36insTCT) c.530-37_530-36insTCT (n.530-37_530-36insTCT) c.404-37_404-36insTCT (n.404-37_404-36insTCT) n.606-37_606-36insTCT | |
11 | g.17527076_17527077insAGT | CA2790593449 | USH1C | c.497-37_497-36insACT (n.497-37_497-36insACT) c.530-37_530-36insACT (n.530-37_530-36insACT) c.404-37_404-36insACT (n.404-37_404-36insACT) n.606-37_606-36insACT | |
11 | g.17527077C>A | CA2612675312 | USH1C | c.497-37G>T (n.497-37G>T) c.530-37G>T (n.530-37G>T) c.404-37G>T (n.404-37G>T) n.606-37G>T | gnomAD v4 |
11 | g.17527077C= | CA1955186909 | USH1C | c.497-37G= (n.497-37G=) c.530-37G= (n.530-37G=) c.404-37G= (n.404-37G=) n.606-37G= | |
11 | g.17527077C>G | CA2612675313 | USH1C | c.497-37G>C (n.497-37G>C) c.530-37G>C (n.530-37G>C) c.404-37G>C (n.404-37G>C) n.606-37G>C | gnomAD v4 |
11 | g.17527077C>T | CA597668794 | USH1C | c.497-37G>A (n.497-37G>A) c.530-37G>A (n.530-37G>A) c.404-37G>A (n.404-37G>A) n.606-37G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527077_17527078insACA | CA2790593451 | USH1C | c.497-38_497-37insTGT (n.497-38_497-37insTGT) c.530-38_530-37insTGT (n.530-38_530-37insTGT) c.404-38_404-37insTGT (n.404-38_404-37insTGT) n.606-38_606-37insTGT | |
11 | g.17527078C>A | CA597668796 | USH1C | c.497-38G>T (n.497-38G>T) c.530-38G>T (n.530-38G>T) c.404-38G>T (n.404-38G>T) n.606-38G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527078C= | CA1955186911 | USH1C | c.497-38G= (n.497-38G=) c.530-38G= (n.530-38G=) c.404-38G= (n.404-38G=) n.606-38G= | |
11 | g.17527078C>T | CA5905006 | USH1C | c.497-38G>A (n.497-38G>A) c.530-38G>A (n.530-38G>A) c.404-38G>A (n.404-38G>A) n.606-38G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527078_17527079insCCCCCAC | CA2612675318 | USH1C | c.497-38_497-37insTGGGGGG (n.497-38_497-37insTGGGGGG) c.530-38_530-37insTGGGGGG (n.530-38_530-37insTGGGGGG) c.404-38_404-37insTGGGGGG (n.404-38_404-37insTGGGGGG) n.606-38_606-37insTGGGGGG | gnomAD v4 |
11 | g.17527078_17527079delinsCG | CA1955186910 | USH1C | c.497-39_497-38delinsCG (n.497-39_497-38delinsCG) c.530-39_530-38delinsCG (n.530-39_530-38delinsCG) c.404-39_404-38delinsCG (n.404-39_404-38delinsCG) n.606-39_606-38delinsCG | |
11 | g.17527079_17527080del | CA2574769469 | USH1C | c.497-39_497-38del (n.497-39_497-38del) c.530-39_530-38del (n.530-39_530-38del) c.404-39_404-38del (n.404-39_404-38del) n.606-39_606-38del | |
11 | g.17527078_17527079insA | CA2612675326 | USH1C | c.497-39_497-38insT (n.497-39_497-38insT) c.530-39_530-38insT (n.530-39_530-38insT) c.404-39_404-38insT (n.404-39_404-38insT) n.606-39_606-38insT | gnomAD v4 |
11 | g.17527078_17527079insACA | CA2790593455 | USH1C | c.497-39_497-38insTGT (n.497-39_497-38insTGT) c.530-39_530-38insTGT (n.530-39_530-38insTGT) c.404-39_404-38insTGT (n.404-39_404-38insTGT) n.606-39_606-38insTGT | |
11 | g.17527078_17527079insAGA | CA2790593456 | USH1C | c.497-39_497-38insTCT (n.497-39_497-38insTCT) c.530-39_530-38insTCT (n.530-39_530-38insTCT) c.404-39_404-38insTCT (n.404-39_404-38insTCT) n.606-39_606-38insTCT | |
11 | g.17527078_17527079insAGT | CA2790593457 | USH1C | c.497-39_497-38insACT (n.497-39_497-38insACT) c.530-39_530-38insACT (n.530-39_530-38insACT) c.404-39_404-38insACT (n.404-39_404-38insACT) n.606-39_606-38insACT | |
11 | g.17527079del | CA597668799 | USH1C | c.497-39del (n.497-39del) c.530-39del (n.530-39del) c.404-39del (n.404-39del) n.606-39del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527079G>A | CA597668801 | USH1C | c.497-39C>T (n.497-39C>T) c.530-39C>T (n.530-39C>T) c.404-39C>T (n.404-39C>T) n.606-39C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527079G>C | CA5905007 | USH1C | c.497-39C>G (n.497-39C>G) c.530-39C>G (n.530-39C>G) c.404-39C>G (n.404-39C>G) n.606-39C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527079G= | CA1955186912 | USH1C | c.497-39C= (n.497-39C=) c.530-39C= (n.530-39C=) c.404-39C= (n.404-39C=) n.606-39C= | |
11 | g.17527079G>T | CA2612675327 | USH1C | c.497-39C>A (n.497-39C>A) c.530-39C>A (n.530-39C>A) c.404-39C>A (n.404-39C>A) n.606-39C>A | gnomAD v4 |
11 | g.17527079dup | CA2612675323 | USH1C | c.497-39dup (n.497-39dup) c.530-39dup (n.530-39dup) c.404-39dup (n.404-39dup) n.606-39dup | gnomAD v4 |
11 | g.17527079_17527080insAGT | CA2790593463 | USH1C | c.497-40_497-39insACT (n.497-40_497-39insACT) c.530-40_530-39insACT (n.530-40_530-39insACT) c.404-40_404-39insACT (n.404-40_404-39insACT) n.606-40_606-39insACT | |
11 | g.17527080C>A | CA935547081 | USH1C | c.497-40G>T (n.497-40G>T) c.530-40G>T (n.530-40G>T) c.404-40G>T (n.404-40G>T) n.606-40G>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527080C= | CA1955186913 | USH1C | c.497-40G= (n.497-40G=) c.530-40G= (n.530-40G=) c.404-40G= (n.404-40G=) n.606-40G= | |
11 | g.17527080C>G | CA2790593461 | USH1C | c.497-40G>C (n.497-40G>C) c.530-40G>C (n.530-40G>C) c.404-40G>C (n.404-40G>C) n.606-40G>C | |
11 | g.17527080C>T | CA597668805 | USH1C | c.497-40G>A (n.497-40G>A) c.530-40G>A (n.530-40G>A) c.404-40G>A (n.404-40G>A) n.606-40G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527082_17527083insCCCCCCC | CA2612675335 | USH1C | c.497-40_497-39insGGGGGGG (n.497-40_497-39insGGGGGGG) c.530-40_530-39insGGGGGGG (n.530-40_530-39insGGGGGGG) c.404-40_404-39insGGGGGGG (n.404-40_404-39insGGGGGGG) n.606-40_606-39insGGGGGGG | gnomAD v4 |
11 | g.17527082dup | CA2612675337 | USH1C | c.497-40dup (n.497-40dup) c.530-40dup (n.530-40dup) c.404-40dup (n.404-40dup) n.606-40dup | gnomAD v4 |
11 | g.17527081_17527082dup | CA2612675336 | USH1C | c.497-41_497-40dup (n.497-41_497-40dup) c.530-41_530-40dup (n.530-41_530-40dup) c.404-41_404-40dup (n.404-41_404-40dup) n.606-41_606-40dup | gnomAD v4 |
11 | g.17527080_17527094del | CA2790593460 | USH1C | c.497-54_497-40del (n.497-54_497-40del) c.530-54_530-40del (n.530-54_530-40del) c.404-54_404-40del (n.404-54_404-40del) n.606-54_606-40del | |
11 | g.17527091_17527094dup | CA2612675334 | USH1C | c.497-43_497-40dup (n.497-43_497-40dup) c.530-43_530-40dup (n.530-43_530-40dup) c.404-43_404-40dup (n.404-43_404-40dup) n.606-43_606-40dup | gnomAD v4 |
11 | g.17527091_17527094del | CA597668804 | USH1C | c.497-43_497-40del (n.497-43_497-40del) c.530-43_530-40del (n.530-43_530-40del) c.404-43_404-40del (n.404-43_404-40del) n.606-43_606-40del | gnomAD v2 gnomAD v4 |
11 | g.17527087_17527094del | CA2612675333 | USH1C | c.497-47_497-40del (n.497-47_497-40del) c.530-47_530-40del (n.530-47_530-40del) c.404-47_404-40del (n.404-47_404-40del) n.606-47_606-40del | gnomAD v4 |
11 | g.17527080_17527115del | CA2612675332 | USH1C | c.497-75_497-40del (n.497-75_497-40del) c.530-75_530-40del (n.530-75_530-40del) c.404-75_404-40del (n.404-75_404-40del) n.606-75_606-40del | gnomAD v4 |
11 | g.17527123_17527124insACCCTCCCTCCCTCCCACCGTCATGGAGTACTGACCTGCTCCCCC | CA2612675338 | USH1C | c.497-40_497-39insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.497-40_497-39insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) c.530-40_530-39insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.530-40_530-39insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) c.404-40_404-39insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGG (n.404-40_404-39insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGG) n.606-40_606-39insTGGGGGAGCAGGTCAGTACTCCATGACGGTGGGAGGGAGGGAGGG | gnomAD v4 |
11 | g.17527080_17527081insA | CA2790593464 | USH1C | c.497-41_497-40insT (n.497-41_497-40insT) c.530-41_530-40insT (n.530-41_530-40insT) c.404-41_404-40insT (n.404-41_404-40insT) n.606-41_606-40insT | |
11 | g.17527081C>A | CA2790593465 | USH1C | c.497-41G>T (n.497-41G>T) c.530-41G>T (n.530-41G>T) c.404-41G>T (n.404-41G>T) n.606-41G>T | |
11 | g.17527081C>G | CA2790593466 | USH1C | c.497-41G>C (n.497-41G>C) c.530-41G>C (n.530-41G>C) c.404-41G>C (n.404-41G>C) n.606-41G>C | |
11 | g.17527081C>T | CA2790593467 | USH1C | c.497-41G>A (n.497-41G>A) c.530-41G>A (n.530-41G>A) c.404-41G>A (n.404-41G>A) n.606-41G>A | |
11 | g.17527081_17527082insACA | CA2790593468 | USH1C | c.497-42_497-41insTGT (n.497-42_497-41insTGT) c.530-42_530-41insTGT (n.530-42_530-41insTGT) c.404-42_404-41insTGT (n.404-42_404-41insTGT) n.606-42_606-41insTGT | |
11 | g.17527081_17527082insAGAG | CA2790593470 | USH1C | c.497-42_497-41insCTCT (n.497-42_497-41insCTCT) c.530-42_530-41insCTCT (n.530-42_530-41insCTCT) c.404-42_404-41insCTCT (n.404-42_404-41insCTCT) n.606-42_606-41insCTCT | |
11 | g.17527082C>A | CA2574769471 | USH1C | c.497-42G>T (n.497-42G>T) c.530-42G>T (n.530-42G>T) c.404-42G>T (n.404-42G>T) n.606-42G>T | |
11 | g.17527082C>G | CA2790593469 | USH1C | c.497-42G>C (n.497-42G>C) c.530-42G>C (n.530-42G>C) c.404-42G>C (n.404-42G>C) n.606-42G>C | |
11 | g.17527082C>T | CA2612675341 | USH1C | c.497-42G>A (n.497-42G>A) c.530-42G>A (n.530-42G>A) c.404-42G>A (n.404-42G>A) n.606-42G>A | gnomAD v4 |
11 | g.17527082_17527083delinsCT | CA1955186914 | USH1C | c.497-43_497-42delinsAG (n.497-43_497-42delinsAG) c.530-43_530-42delinsAG (n.530-43_530-42delinsAG) c.404-43_404-42delinsAG (n.404-43_404-42delinsAG) n.606-43_606-42delinsAG | |
11 | g.17527083_17527084del | CA2612675339 | USH1C | c.497-43_497-42del (n.497-43_497-42del) c.530-43_530-42del (n.530-43_530-42del) c.404-43_404-42del (n.404-43_404-42del) n.606-43_606-42del | gnomAD v4 |
11 | g.17527083_17527092del | CA2612675340 | USH1C | c.497-51_497-42del (n.497-51_497-42del) c.530-51_530-42del (n.530-51_530-42del) c.404-51_404-42del (n.404-51_404-42del) n.606-51_606-42del | gnomAD v4 |
11 | g.17527082_17527083insAGT | CA2790593472 | USH1C | c.497-43_497-42insACT (n.497-43_497-42insACT) c.530-43_530-42insACT (n.530-43_530-42insACT) c.404-43_404-42insACT (n.404-43_404-42insACT) n.606-43_606-42insACT | |
11 | g.17527083del | CA597668808 | USH1C | c.497-43del (n.497-43del) c.530-43del (n.530-43del) c.404-43del (n.404-43del) n.606-43del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527083T>A | CA2790593474 | USH1C | c.497-43A>T (n.497-43A>T) c.530-43A>T (n.530-43A>T) c.404-43A>T (n.404-43A>T) n.606-43A>T | |
11 | g.17527083T>C | CA5905008 | USH1C | c.497-43A>G (n.497-43A>G) c.530-43A>G (n.530-43A>G) c.404-43A>G (n.404-43A>G) n.606-43A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527083T>G | CA2574769473 | USH1C | c.497-43A>C (n.497-43A>C) c.530-43A>C (n.530-43A>C) c.404-43A>C (n.404-43A>C) n.606-43A>C | gnomAD v4 |
11 | g.17527083T= | CA1955186915 | USH1C | c.497-43A= (n.497-43A=) c.530-43A= (n.530-43A=) c.404-43A= (n.404-43A=) n.606-43A= | |
11 | g.17527083_17527087del | CA2612675346 | USH1C | c.497-47_497-43del (n.497-47_497-43del) c.530-47_530-43del (n.530-47_530-43del) c.404-47_404-43del (n.404-47_404-43del) n.606-47_606-43del | gnomAD v4 |
11 | g.17527083_17527091del | CA2612675343 | USH1C | c.497-51_497-43del (n.497-51_497-43del) c.530-51_530-43del (n.530-51_530-43del) c.404-51_404-43del (n.404-51_404-43del) n.606-51_606-43del | gnomAD v4 |
11 | g.17527083_17527107del | CA2790593473 | USH1C | c.497-67_497-43del (n.497-67_497-43del) c.530-67_530-43del (n.530-67_530-43del) c.404-67_404-43del (n.404-67_404-43del) n.606-67_606-43del | |
11 | g.17527083_17527118del | CA2612675345 | USH1C | c.497-78_497-43del (n.497-78_497-43del) c.530-78_530-43del (n.530-78_530-43del) c.404-78_404-43del (n.404-78_404-43del) n.606-78_606-43del | gnomAD v4 |
11 | g.17527083_17527084insAGA | CA2790593476 | USH1C | c.497-44_497-43insTCT (n.497-44_497-43insTCT) c.530-44_530-43insTCT (n.530-44_530-43insTCT) c.404-44_404-43insTCT (n.404-44_404-43insTCT) n.606-44_606-43insTCT | |
11 | g.17527084C>A | CA1955186917 | USH1C | c.497-44G>T (n.497-44G>T) c.530-44G>T (n.530-44G>T) c.404-44G>T (n.404-44G>T) n.606-44G>T | dbSNP gnomAD v4 |
11 | g.17527084C= | CA1955186916 | USH1C | c.497-44G= (n.497-44G=) c.530-44G= (n.530-44G=) c.404-44G= (n.404-44G=) n.606-44G= | |
11 | g.17527086del | CA2790593477 | USH1C | c.497-44del (n.497-44del) c.530-44del (n.530-44del) c.404-44del (n.404-44del) n.606-44del | |
11 | g.17527086_17527094del | CA2790593478 | USH1C | c.497-52_497-44del (n.497-52_497-44del) c.530-52_530-44del (n.530-52_530-44del) c.404-52_404-44del (n.404-52_404-44del) n.606-52_606-44del | |
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.17527084_17527085insAA | CA2790593479 | USH1C | c.497-45_497-44insTT (n.497-45_497-44insTT) c.530-45_530-44insTT (n.530-45_530-44insTT) c.404-45_404-44insTT (n.404-45_404-44insTT) n.606-45_606-44insTT | |
11 | g.17527085C>A | CA2612675352 | USH1C | c.497-45G>T (n.497-45G>T) c.530-45G>T (n.530-45G>T) c.404-45G>T (n.404-45G>T) n.606-45G>T | gnomAD v4 |
11 | g.17527085C= | CA1955186918 | USH1C | c.497-45G= (n.497-45G=) c.530-45G= (n.530-45G=) c.404-45G= (n.404-45G=) n.606-45G= | |
11 | g.17527085C>G | CA2790593480 | USH1C | c.497-45G>C (n.497-45G>C) c.530-45G>C (n.530-45G>C) c.404-45G>C (n.404-45G>C) n.606-45G>C | |
11 | g.17527085C>T | CA5905009 | USH1C | c.497-45G>A (n.497-45G>A) c.530-45G>A (n.530-45G>A) c.404-45G>A (n.404-45G>A) n.606-45G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17527085_17527104del | CA2790593481 | USH1C | c.497-64_497-45del (n.497-64_497-45del) c.530-64_530-45del (n.530-64_530-45del) c.404-64_404-45del (n.404-64_404-45del) n.606-64_606-45del | |
11 | g.17527085_17527086insACA | CA2790593482 | USH1C | c.497-46_497-45insTGT (n.497-46_497-45insTGT) c.530-46_530-45insTGT (n.530-46_530-45insTGT) c.404-46_404-45insTGT (n.404-46_404-45insTGT) n.606-46_606-45insTGT | |
11 | g.17527086C>A | CA2612675356 | USH1C | c.497-46G>T (n.497-46G>T) c.530-46G>T (n.530-46G>T) c.404-46G>T (n.404-46G>T) n.606-46G>T | gnomAD v4 |
11 | g.17527086C= | CA1955186920 | USH1C | c.497-46G= (n.497-46G=) c.530-46G= (n.530-46G=) c.404-46G= (n.404-46G=) n.606-46G= | |
11 | g.17527086C>G | CA2790593484 | USH1C | c.497-46G>C (n.497-46G>C) c.530-46G>C (n.530-46G>C) c.404-46G>C (n.404-46G>C) n.606-46G>C | |
11 | g.17527086C>T | CA1955186921 | USH1C | c.497-46G>A (n.497-46G>A) c.530-46G>A (n.530-46G>A) c.404-46G>A (n.404-46G>A) n.606-46G>A | dbSNP |
11 | g.17527086_17527087insCAC | CA2612675358 | USH1C | c.497-46_497-45insTGG (n.497-46_497-45insTGG) c.530-46_530-45insTGG (n.530-46_530-45insTGG) c.404-46_404-45insTGG (n.404-46_404-45insTGG) n.606-46_606-45insTGG | gnomAD v4 |
11 | g.17527086_17527087insCCCCCAC | CA2612675357 | USH1C | c.497-46_497-45insTGGGGGG (n.497-46_497-45insTGGGGGG) c.530-46_530-45insTGGGGGG (n.530-46_530-45insTGGGGGG) c.404-46_404-45insTGGGGGG (n.404-46_404-45insTGGGGGG) n.606-46_606-45insTGGGGGG | gnomAD v4 |
11 | g.17527086_17527087delinsCT | CA1955186919 | USH1C | c.497-47_497-46delinsAG (n.497-47_497-46delinsAG) c.530-47_530-46delinsAG (n.530-47_530-46delinsAG) c.404-47_404-46delinsAG (n.404-47_404-46delinsAG) n.606-47_606-46delinsAG | |
11 | g.17527087_17527088del | CA2612675359 | USH1C | c.497-47_497-46del (n.497-47_497-46del) c.530-47_530-46del (n.530-47_530-46del) c.404-47_404-46del (n.404-47_404-46del) n.606-47_606-46del | gnomAD v4 |
11 | g.17527086_17527104del | CA2790593483 | USH1C | c.497-64_497-46del (n.497-64_497-46del) c.530-64_530-46del (n.530-64_530-46del) c.404-64_404-46del (n.404-64_404-46del) n.606-64_606-46del | |
11 | g.17527086_17527087insAG | CA2790593492 | USH1C | c.497-47_497-46insCT (n.497-47_497-46insCT) c.530-47_530-46insCT (n.530-47_530-46insCT) c.404-47_404-46insCT (n.404-47_404-46insCT) n.606-47_606-46insCT | |
11 | g.17527086_17527087insAGT | CA2790593490 | USH1C | c.497-47_497-46insACT (n.497-47_497-46insACT) c.530-47_530-46insACT (n.530-47_530-46insACT) c.404-47_404-46insACT (n.404-47_404-46insACT) n.606-47_606-46insACT | |
11 | g.17527086_17527087insCCA | CA2612675361 | USH1C | c.497-47_497-46insTGG (n.497-47_497-46insTGG) c.530-47_530-46insTGG (n.530-47_530-46insTGG) c.404-47_404-46insTGG (n.404-47_404-46insTGG) n.606-47_606-46insTGG | gnomAD v4 |
11 | g.17527086_17527087insCCCCCCA | CA2612675362 | USH1C | c.497-47_497-46insTGGGGGG (n.497-47_497-46insTGGGGGG) c.530-47_530-46insTGGGGGG (n.530-47_530-46insTGGGGGG) c.404-47_404-46insTGGGGGG (n.404-47_404-46insTGGGGGG) n.606-47_606-46insTGGGGGG | gnomAD v4 |
11 | g.17527087del | CA597668810 | USH1C | c.497-47del (n.497-47del) c.530-47del (n.530-47del) c.404-47del (n.404-47del) n.606-47del | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527087T>A | CA2574769476 | USH1C | c.497-47A>T (n.497-47A>T) c.530-47A>T (n.530-47A>T) c.404-47A>T (n.404-47A>T) n.606-47A>T | gnomAD v4 |
11 | g.17527087T>C | CA5905010 | USH1C | c.497-47A>G (n.497-47A>G) c.530-47A>G (n.530-47A>G) c.404-47A>G (n.404-47A>G) n.606-47A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527087T= | CA1955186922 | USH1C | c.497-47A= (n.497-47A=) c.530-47A= (n.530-47A=) c.404-47A= (n.404-47A=) n.606-47A= | |
11 | g.17527087_17527091del | CA2612675364 | USH1C | c.497-51_497-47del (n.497-51_497-47del) c.530-51_530-47del (n.530-51_530-47del) c.404-51_404-47del (n.404-51_404-47del) n.606-51_606-47del | gnomAD v4 |
11 | g.17527087_17527104del | CA2790593489 | USH1C | c.497-64_497-47del (n.497-64_497-47del) c.530-64_530-47del (n.530-64_530-47del) c.404-64_404-47del (n.404-64_404-47del) n.606-64_606-47del | |
11 | g.17527087_17527118del | CA2612675366 | USH1C | c.497-78_497-47del (n.497-78_497-47del) c.530-78_530-47del (n.530-78_530-47del) c.404-78_404-47del (n.404-78_404-47del) n.606-78_606-47del | dbSNP gnomAD v4 |
11 | g.17527087_17527088insACA | CA2790593493 | USH1C | c.497-48_497-47insTGT (n.497-48_497-47insTGT) c.530-48_530-47insTGT (n.530-48_530-47insTGT) c.404-48_404-47insTGT (n.404-48_404-47insTGT) n.606-48_606-47insTGT | |
11 | g.17527088C>A | CA2612675372 | USH1C | c.497-48G>T (n.497-48G>T) c.530-48G>T (n.530-48G>T) c.404-48G>T (n.404-48G>T) n.606-48G>T | gnomAD v4 |
11 | g.17527088C= | CA1955186923 | USH1C | c.497-48G= (n.497-48G=) c.530-48G= (n.530-48G=) c.404-48G= (n.404-48G=) n.606-48G= | |
11 | g.17527088C>G | CA2790593497 | USH1C | c.497-48G>C (n.497-48G>C) c.530-48G>C (n.530-48G>C) c.404-48G>C (n.404-48G>C) n.606-48G>C | |
11 | g.17527088C>T | CA597668812 | USH1C | c.497-48G>A (n.497-48G>A) c.530-48G>A (n.530-48G>A) c.404-48G>A (n.404-48G>A) n.606-48G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527088_17527094del | CA2790593496 | USH1C | c.497-54_497-48del (n.497-54_497-48del) c.530-54_530-48del (n.530-54_530-48del) c.404-54_404-48del (n.404-54_404-48del) n.606-54_606-48del | |
11 | g.17527090_17527094del | CA2790593494 | USH1C | c.497-52_497-48del (n.497-52_497-48del) c.530-52_530-48del (n.530-52_530-48del) c.404-52_404-48del (n.404-52_404-48del) n.606-52_606-48del | |
11 | g.17527090_17527097del | CA2612675371 | USH1C | c.497-55_497-48del (n.497-55_497-48del) c.530-55_530-48del (n.530-55_530-48del) c.404-55_404-48del (n.404-55_404-48del) n.606-55_606-48del | gnomAD v4 |
11 | g.17527111_17527112insCCCTGCTCCCCCGCCCTCCCCCCCTCCCACCGTCATGGAGTACTG | CA2832280583 | USH1C | c.497-48_497-47insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.497-48_497-47insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) c.530-48_530-47insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.530-48_530-47insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) c.404-48_404-47insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG (n.404-48_404-47insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG) n.606-48_606-47insGGGGAGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGG | |
11 | g.17527088_17527089insA | CA2790593499 | USH1C | c.497-49_497-48insT (n.497-49_497-48insT) c.530-49_530-48insT (n.530-49_530-48insT) c.404-49_404-48insT (n.404-49_404-48insT) n.606-49_606-48insT | |
11 | g.17527088_17527089insAGAG | CA2790593500 | USH1C | c.497-49_497-48insCTCT (n.497-49_497-48insCTCT) c.530-49_530-48insCTCT (n.530-49_530-48insCTCT) c.404-49_404-48insCTCT (n.404-49_404-48insCTCT) n.606-49_606-48insCTCT | |
11 | g.17527089C>A | CA1955186925 | USH1C | c.497-49G>T (n.497-49G>T) c.530-49G>T (n.530-49G>T) c.404-49G>T (n.404-49G>T) n.606-49G>T | dbSNP |
11 | g.17527089C= | CA1955186924 | USH1C | c.497-49G= (n.497-49G=) c.530-49G= (n.530-49G=) c.404-49G= (n.404-49G=) n.606-49G= | |
11 | g.17527089C>G | CA935547091 | USH1C | c.497-49G>C (n.497-49G>C) c.530-49G>C (n.530-49G>C) c.404-49G>C (n.404-49G>C) n.606-49G>C | gnomAD v3 gnomAD v4 |
11 | g.17527089C>T | CA597668813 | USH1C | c.497-49G>A (n.497-49G>A) c.530-49G>A (n.530-49G>A) c.404-49G>A (n.404-49G>A) n.606-49G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17527090_17527091insCACC | CA2612675377 | USH1C | c.497-49_497-48insTGGG (n.497-49_497-48insTGGG) c.530-49_530-48insTGGG (n.530-49_530-48insTGGG) c.404-49_404-48insTGGG (n.404-49_404-48insTGGG) n.606-49_606-48insTGGG | gnomAD v4 |
11 | g.17527089_17527104del | CA2790593501 | USH1C | c.497-64_497-49del (n.497-64_497-49del) c.530-64_530-49del (n.530-64_530-49del) c.404-64_404-49del (n.404-64_404-49del) n.606-64_606-49del | |
11 | g.17527089_17527090insA | CA2790593504 | USH1C | c.497-50_497-49insT (n.497-50_497-49insT) c.530-50_530-49insT (n.530-50_530-49insT) c.404-50_404-49insT (n.404-50_404-49insT) n.606-50_606-49insT | |
11 | g.17527089_17527090insAGT | CA2790593505 | USH1C | c.497-50_497-49insACT (n.497-50_497-49insACT) c.530-50_530-49insACT (n.530-50_530-49insACT) c.404-50_404-49insACT (n.404-50_404-49insACT) n.606-50_606-49insACT | |
11 | g.17527090C>A | CA2612675380 | USH1C | c.497-50G>T (n.497-50G>T) c.530-50G>T (n.530-50G>T) c.404-50G>T (n.404-50G>T) n.606-50G>T | gnomAD v4 |
11 | g.17527090C= | CA1955186926 | USH1C | c.497-50G= (n.497-50G=) c.530-50G= (n.530-50G=) c.404-50G= (n.404-50G=) n.606-50G= | |
11 | g.17527090C>G | CA2790593503 | USH1C | c.497-50G>C (n.497-50G>C) c.530-50G>C (n.530-50G>C) c.404-50G>C (n.404-50G>C) n.606-50G>C | |
11 | g.17527090C>T | CA5905011 | USH1C | c.497-50G>A (n.497-50G>A) c.530-50G>A (n.530-50G>A) c.404-50G>A (n.404-50G>A) n.606-50G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527090_17527091insCAC | CA2612675379 | USH1C | c.497-50_497-49insTGG (n.497-50_497-49insTGG) c.530-50_530-49insTGG (n.530-50_530-49insTGG) c.404-50_404-49insTGG (n.404-50_404-49insTGG) n.606-50_606-49insTGG | gnomAD v4 |
11 | g.17527090_17527091insCA | CA2612675388 | USH1C | c.497-51_497-50insTG (n.497-51_497-50insTG) c.530-51_530-50insTG (n.530-51_530-50insTG) c.404-51_404-50insTG (n.404-51_404-50insTG) n.606-51_606-50insTG | gnomAD v4 |
11 | g.17527090_17527091insACA | CA2790593506 | USH1C | c.497-51_497-50insTGT (n.497-51_497-50insTGT) c.530-51_530-50insTGT (n.530-51_530-50insTGT) c.404-51_404-50insTGT (n.404-51_404-50insTGT) n.606-51_606-50insTGT | |
11 | g.17527091del | CA2612675389 | USH1C | c.497-51del (n.497-51del) c.530-51del (n.530-51del) c.404-51del (n.404-51del) n.606-51del | gnomAD v4 |
11 | g.17527091T>A | CA2574769479 | USH1C | c.497-51A>T (n.497-51A>T) c.530-51A>T (n.530-51A>T) c.404-51A>T (n.404-51A>T) n.606-51A>T | gnomAD v4 |
11 | g.17527091T>C | CA5905012 | USH1C | c.497-51A>G (n.497-51A>G) c.530-51A>G (n.530-51A>G) c.404-51A>G (n.404-51A>G) n.606-51A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527091T>G | CA935547096 | USH1C | c.497-51A>C (n.497-51A>C) c.530-51A>C (n.530-51A>C) c.404-51A>C (n.404-51A>C) n.606-51A>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527091T= | CA1955186927 | USH1C | c.497-51A= (n.497-51A=) c.530-51A= (n.530-51A=) c.404-51A= (n.404-51A=) n.606-51A= | |
11 | g.17527091_17527104del | CA2790593507 | USH1C | c.497-64_497-51del (n.497-64_497-51del) c.530-64_530-51del (n.530-64_530-51del) c.404-64_404-51del (n.404-64_404-51del) n.606-64_606-51del | |
11 | g.17527091_17527118del | CA2612675390 | USH1C | c.497-78_497-51del (n.497-78_497-51del) c.530-78_530-51del (n.530-78_530-51del) c.404-78_404-51del (n.404-78_404-51del) n.606-78_606-51del | gnomAD v4 |
11 | g.17527092C>A | CA935547098 | USH1C | c.497-52G>T (n.497-52G>T) c.530-52G>T (n.530-52G>T) c.404-52G>T (n.404-52G>T) n.606-52G>T | gnomAD v3 gnomAD v4 |
11 | g.17527092C= | CA1955186928 | USH1C | c.497-52G= (n.497-52G=) c.530-52G= (n.530-52G=) c.404-52G= (n.404-52G=) n.606-52G= | |
11 | g.17527092C>T | CA5905013 | USH1C | c.497-52G>A (n.497-52G>A) c.530-52G>A (n.530-52G>A) c.404-52G>A (n.404-52G>A) n.606-52G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527092_17527094del | CA2790593509 | USH1C | c.497-54_497-52del (n.497-54_497-52del) c.530-54_530-52del (n.530-54_530-52del) c.404-54_404-52del (n.404-54_404-52del) n.606-54_606-52del | |
11 | g.17527094del | CA2547939751 | USH1C | c.497-52del (n.497-52del) c.530-52del (n.530-52del) c.404-52del (n.404-52del) n.606-52del | |
11 | g.17527092_17527104del | CA2790593510 | USH1C | c.497-64_497-52del (n.497-64_497-52del) c.530-64_530-52del (n.530-64_530-52del) c.404-64_404-52del (n.404-64_404-52del) n.606-64_606-52del | |
11 | g.17527092_17527093insAGT | CA2790593513 | USH1C | c.497-53_497-52insACT (n.497-53_497-52insACT) c.530-53_530-52insACT (n.530-53_530-52insACT) c.404-53_404-52insACT (n.404-53_404-52insACT) n.606-53_606-52insACT | |
11 | g.17527093C>A | CA935547103 | USH1C | c.497-53G>T (n.497-53G>T) c.530-53G>T (n.530-53G>T) c.404-53G>T (n.404-53G>T) n.606-53G>T | gnomAD v3 gnomAD v4 |
11 | g.17527093C>T | CA2612675400 | USH1C | c.497-53G>A (n.497-53G>A) c.530-53G>A (n.530-53G>A) c.404-53G>A (n.404-53G>A) n.606-53G>A | gnomAD v4 |
11 | g.17527093_17527104del | CA2790593511 | USH1C | c.497-64_497-53del (n.497-64_497-53del) c.530-64_530-53del (n.530-64_530-53del) c.404-64_404-53del (n.404-64_404-53del) n.606-64_606-53del | |
11 | g.17527093_17527094insACT | CA2790593515 | USH1C | c.497-54_497-53insAGT (n.497-54_497-53insAGT) c.530-54_530-53insAGT (n.530-54_530-53insAGT) c.404-54_404-53insAGT (n.404-54_404-53insAGT) n.606-54_606-53insAGT | |
11 | g.17527093_17527094insAGAT | CA2790593516 | USH1C | c.497-54_497-53insATCT (n.497-54_497-53insATCT) c.530-54_530-53insATCT (n.530-54_530-53insATCT) c.404-54_404-53insATCT (n.404-54_404-53insATCT) n.606-54_606-53insATCT | |
11 | g.17527094C>T | CA2790593519 | USH1C | c.497-54G>A (n.497-54G>A) c.530-54G>A (n.530-54G>A) c.404-54G>A (n.404-54G>A) n.606-54G>A | |
11 | g.17527094_17527095insCCCCCAC | CA2612675405 | USH1C | c.497-54_497-53insTGGGGGG (n.497-54_497-53insTGGGGGG) c.530-54_530-53insTGGGGGG (n.530-54_530-53insTGGGGGG) c.404-54_404-53insTGGGGGG (n.404-54_404-53insTGGGGGG) n.606-54_606-53insTGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCAC | CA2612675401 | USH1C | c.497-54_497-53insTGGGGGGG (n.497-54_497-53insTGGGGGGG) c.530-54_530-53insTGGGGGGG (n.530-54_530-53insTGGGGGGG) c.404-54_404-53insTGGGGGGG (n.404-54_404-53insTGGGGGGG) n.606-54_606-53insTGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCGC | CA2612675402 | USH1C | c.497-54_497-53insCGGGGGGG (n.497-54_497-53insCGGGGGGG) c.530-54_530-53insCGGGGGGG (n.530-54_530-53insCGGGGGGG) c.404-54_404-53insCGGGGGGG (n.404-54_404-53insCGGGGGGG) n.606-54_606-53insCGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCAC | CA2612675403 | USH1C | c.497-54_497-53insTGGGGGGGG (n.497-54_497-53insTGGGGGGGG) c.530-54_530-53insTGGGGGGGG (n.530-54_530-53insTGGGGGGGG) c.404-54_404-53insTGGGGGGGG (n.404-54_404-53insTGGGGGGGG) n.606-54_606-53insTGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCAC | CA2612675404 | USH1C | c.497-54_497-53insTGGGGGGGGG (n.497-54_497-53insTGGGGGGGGG) c.530-54_530-53insTGGGGGGGGG (n.530-54_530-53insTGGGGGGGGG) c.404-54_404-53insTGGGGGGGGG (n.404-54_404-53insTGGGGGGGGG) n.606-54_606-53insTGGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527104del | CA2790593518 | USH1C | c.497-64_497-54del (n.497-64_497-54del) c.530-64_530-54del (n.530-64_530-54del) c.404-64_404-54del (n.404-64_404-54del) n.606-64_606-54del | |
11 | g.17527094_17527118delinsCACCGTCATGGAGTACTGACCTGCT | CA1955186929 | USH1C | c.497-78_497-54delinsAGCAGGTCAGTACTCCATGACGGTG (n.497-78_497-54delinsAGCAGGTCAGTACTCCATGACGGTG) c.530-78_530-54delinsAGCAGGTCAGTACTCCATGACGGTG (n.530-78_530-54delinsAGCAGGTCAGTACTCCATGACGGTG) c.404-78_404-54delinsAGCAGGTCAGTACTCCATGACGGTG (n.404-78_404-54delinsAGCAGGTCAGTACTCCATGACGGTG) n.606-78_606-54delinsAGCAGGTCAGTACTCCATGACGGTG | |
11 | g.17527094_17527095insCCCCCA | CA2612675425 | USH1C | c.497-55_497-54insTGGGGG (n.497-55_497-54insTGGGGG) c.530-55_530-54insTGGGGG (n.530-55_530-54insTGGGGG) c.404-55_404-54insTGGGGG (n.404-55_404-54insTGGGGG) n.606-55_606-54insTGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCAA | CA2612675462 | USH1C | c.497-55_497-54insTTGGGGGG (n.497-55_497-54insTTGGGGGG) c.530-55_530-54insTTGGGGGG (n.530-55_530-54insTTGGGGGG) c.404-55_404-54insTTGGGGGG (n.404-55_404-54insTTGGGGGG) n.606-55_606-54insTTGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCA | CA935547145 | USH1C | c.497-55_497-54insTGGGGGGG (n.497-55_497-54insTGGGGGGG) c.530-55_530-54insTGGGGGGG (n.530-55_530-54insTGGGGGGG) c.404-55_404-54insTGGGGGGG (n.404-55_404-54insTGGGGGGG) n.606-55_606-54insTGGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527094_17527095insCCCCCCAAA | CA2612675465 | USH1C | c.497-55_497-54insTTTGGGGGG (n.497-55_497-54insTTTGGGGGG) c.530-55_530-54insTTTGGGGGG (n.530-55_530-54insTTTGGGGGG) c.404-55_404-54insTTTGGGGGG (n.404-55_404-54insTTTGGGGGG) n.606-55_606-54insTTTGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCACA | CA2612675468 | USH1C | c.497-55_497-54insTGTGGGGGG (n.497-55_497-54insTGTGGGGGG) c.530-55_530-54insTGTGGGGGG (n.530-55_530-54insTGTGGGGGG) c.404-55_404-54insTGTGGGGGG (n.404-55_404-54insTGTGGGGGG) n.606-55_606-54insTGTGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCAA | CA935547143 | USH1C | c.497-55_497-54insTTGGGGGGG (n.497-55_497-54insTTGGGGGGG) c.530-55_530-54insTTGGGGGGG (n.530-55_530-54insTTGGGGGGG) c.404-55_404-54insTTGGGGGGG (n.404-55_404-54insTTGGGGGGG) n.606-55_606-54insTTGGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCA | CA2612675479 | USH1C | c.497-55_497-54insTGGGGGGGG (n.497-55_497-54insTGGGGGGGG) c.530-55_530-54insTGGGGGGGG (n.530-55_530-54insTGGGGGGGG) c.404-55_404-54insTGGGGGGGG (n.404-55_404-54insTGGGGGGGG) n.606-55_606-54insTGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCT | CA2612675433 | USH1C | c.497-55_497-54insAGGGGGGGG (n.497-55_497-54insAGGGGGGGG) c.530-55_530-54insAGGGGGGGG (n.530-55_530-54insAGGGGGGGG) c.404-55_404-54insAGGGGGGGG (n.404-55_404-54insAGGGGGGGG) n.606-55_606-54insAGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCAAG | CA2790593531 | USH1C | c.497-55_497-54insCTTGGGGGGG (n.497-55_497-54insCTTGGGGGGG) c.530-55_530-54insCTTGGGGGGG (n.530-55_530-54insCTTGGGGGGG) c.404-55_404-54insCTTGGGGGGG (n.404-55_404-54insCTTGGGGGGG) n.606-55_606-54insCTTGGGGGGG | |
11 | g.17527094_17527095insCCCCCCCCAA | CA2790593529 | USH1C | c.497-55_497-54insTTGGGGGGGG (n.497-55_497-54insTTGGGGGGGG) c.530-55_530-54insTTGGGGGGGG (n.530-55_530-54insTTGGGGGGGG) c.404-55_404-54insTTGGGGGGGG (n.404-55_404-54insTTGGGGGGGG) n.606-55_606-54insTTGGGGGGGG | |
11 | g.17527094_17527095insCCCCCCCCAG | CA2612675486 | USH1C | c.497-55_497-54insCTGGGGGGGG (n.497-55_497-54insCTGGGGGGGG) c.530-55_530-54insCTGGGGGGGG (n.530-55_530-54insCTGGGGGGGG) c.404-55_404-54insCTGGGGGGGG (n.404-55_404-54insCTGGGGGGGG) n.606-55_606-54insCTGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCCA | CA2612675502 | USH1C | c.497-55_497-54insTGGGGGGGGG (n.497-55_497-54insTGGGGGGGGG) c.530-55_530-54insTGGGGGGGGG (n.530-55_530-54insTGGGGGGGGG) c.404-55_404-54insTGGGGGGGGG (n.404-55_404-54insTGGGGGGGGG) n.606-55_606-54insTGGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCAAA | CA2612675482 | USH1C | c.497-55_497-54insTTTGGGGGGGG (n.497-55_497-54insTTTGGGGGGGG) c.530-55_530-54insTTTGGGGGGGG (n.530-55_530-54insTTTGGGGGGGG) c.404-55_404-54insTTTGGGGGGGG (n.404-55_404-54insTTTGGGGGGGG) n.606-55_606-54insTTTGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCAGGGGG | CA2612675470 | USH1C | c.497-55_497-54insCCCCCTGGGGGGG (n.497-55_497-54insCCCCCTGGGGGGG) c.530-55_530-54insCCCCCTGGGGGGG (n.530-55_530-54insCCCCCTGGGGGGG) c.404-55_404-54insCCCCCTGGGGGGG (n.404-55_404-54insCCCCCTGGGGGGG) n.606-55_606-54insCCCCCTGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCATGGGG | CA2592429711 | USH1C | c.497-55_497-54insCCCCATGGGGGGG (n.497-55_497-54insCCCCATGGGGGGG) c.530-55_530-54insCCCCATGGGGGGG (n.530-55_530-54insCCCCATGGGGGGG) c.404-55_404-54insCCCCATGGGGGGG (n.404-55_404-54insCCCCATGGGGGGG) n.606-55_606-54insCCCCATGGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCAGGGG | CA2612675489 | USH1C | c.497-55_497-54insCCCCTGGGGGGGG (n.497-55_497-54insCCCCTGGGGGGGG) c.530-55_530-54insCCCCTGGGGGGGG (n.530-55_530-54insCCCCTGGGGGGGG) c.404-55_404-54insCCCCTGGGGGGGG (n.404-55_404-54insCCCCTGGGGGGGG) n.606-55_606-54insCCCCTGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCCGGGG | CA2612675518 | USH1C | c.497-55_497-54insCCCCGGGGGGGGG (n.497-55_497-54insCCCCGGGGGGGGG) c.530-55_530-54insCCCCGGGGGGGGG (n.530-55_530-54insCCCCGGGGGGGGG) c.404-55_404-54insCCCCGGGGGGGGG (n.404-55_404-54insCCCCGGGGGGGGG) n.606-55_606-54insCCCCGGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCGGGGG | CA2612675429 | USH1C | c.497-55_497-54insCCCCCGGGGGGGG (n.497-55_497-54insCCCCCGGGGGGGG) c.530-55_530-54insCCCCCGGGGGGGG (n.530-55_530-54insCCCCCGGGGGGGG) c.404-55_404-54insCCCCCGGGGGGGG (n.404-55_404-54insCCCCCGGGGGGGG) n.606-55_606-54insCCCCCGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCTGGGG | CA935547117 | USH1C | c.497-55_497-54insCCCCAGGGGGGGG (n.497-55_497-54insCCCCAGGGGGGGG) c.530-55_530-54insCCCCAGGGGGGGG (n.530-55_530-54insCCCCAGGGGGGGG) c.404-55_404-54insCCCCAGGGGGGGG (n.404-55_404-54insCCCCAGGGGGGGG) n.606-55_606-54insCCCCAGGGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCTTAGG | CA2612675448 | USH1C | c.497-55_497-54insCCTAAGGGGGGGG (n.497-55_497-54insCCTAAGGGGGGGG) c.530-55_530-54insCCTAAGGGGGGGG (n.530-55_530-54insCCTAAGGGGGGGG) c.404-55_404-54insCCTAAGGGGGGGG (n.404-55_404-54insCCTAAGGGGGGGG) n.606-55_606-54insCCTAAGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCTTGGGG | CA2612675454 | USH1C | c.497-55_497-54insCCCCAAGGGGGGG (n.497-55_497-54insCCCCAAGGGGGGG) c.530-55_530-54insCCCCAAGGGGGGG (n.530-55_530-54insCCCCAAGGGGGGG) c.404-55_404-54insCCCCAAGGGGGGG (n.404-55_404-54insCCCCAAGGGGGGG) n.606-55_606-54insCCCCAAGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCAGGGGGG | CA2612675471 | USH1C | c.497-55_497-54insCCCCCCTGGGGGGG (n.497-55_497-54insCCCCCCTGGGGGGG) c.530-55_530-54insCCCCCCTGGGGGGG (n.530-55_530-54insCCCCCCTGGGGGGG) c.404-55_404-54insCCCCCCTGGGGGGG (n.404-55_404-54insCCCCCCTGGGGGGG) n.606-55_606-54insCCCCCCTGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCAGGGGG | CA2612675493 | USH1C | c.497-55_497-54insCCCCCTGGGGGGGG (n.497-55_497-54insCCCCCTGGGGGGGG) c.530-55_530-54insCCCCCTGGGGGGGG (n.530-55_530-54insCCCCCTGGGGGGGG) c.404-55_404-54insCCCCCTGGGGGGGG (n.404-55_404-54insCCCCCTGGGGGGGG) n.606-55_606-54insCCCCCTGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCATGGGG | CA2612675499 | USH1C | c.497-55_497-54insCCCCATGGGGGGGG (n.497-55_497-54insCCCCATGGGGGGGG) c.530-55_530-54insCCCCATGGGGGGGG (n.530-55_530-54insCCCCATGGGGGGGG) c.404-55_404-54insCCCCATGGGGGGGG (n.404-55_404-54insCCCCATGGGGGGGG) n.606-55_606-54insCCCCATGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCCCCGGG | CA2612675515 | USH1C | c.497-55_497-54insCCCGGGGGGGGGGG (n.497-55_497-54insCCCGGGGGGGGGGG) c.530-55_530-54insCCCGGGGGGGGGGG (n.530-55_530-54insCCCGGGGGGGGGGG) c.404-55_404-54insCCCGGGGGGGGGGG (n.404-55_404-54insCCCGGGGGGGGGGG) n.606-55_606-54insCCCGGGGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCCGGGGG | CA935547140 | USH1C | c.497-55_497-54insCCCCCGGGGGGGGG (n.497-55_497-54insCCCCCGGGGGGGGG) c.530-55_530-54insCCCCCGGGGGGGGG (n.530-55_530-54insCCCCCGGGGGGGGG) c.404-55_404-54insCCCCCGGGGGGGGG (n.404-55_404-54insCCCCCGGGGGGGGG) n.606-55_606-54insCCCCCGGGGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCCTGGGG | CA2612675427 | USH1C | c.497-55_497-54insCCCCAGGGGGGGGG (n.497-55_497-54insCCCCAGGGGGGGGG) c.530-55_530-54insCCCCAGGGGGGGGG (n.530-55_530-54insCCCCAGGGGGGGGG) c.404-55_404-54insCCCCAGGGGGGGGG (n.404-55_404-54insCCCCAGGGGGGGGG) n.606-55_606-54insCCCCAGGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCGGGGGG | CA2612675431 | USH1C | c.497-55_497-54insCCCCCCGGGGGGGG (n.497-55_497-54insCCCCCCGGGGGGGG) c.530-55_530-54insCCCCCCGGGGGGGG (n.530-55_530-54insCCCCCCGGGGGGGG) c.404-55_404-54insCCCCCCGGGGGGGG (n.404-55_404-54insCCCCCCGGGGGGGG) n.606-55_606-54insCCCCCCGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCTGAGGA | CA2612675435 | USH1C | c.497-55_497-54insTCCTCAGGGGGGGG (n.497-55_497-54insTCCTCAGGGGGGGG) c.530-55_530-54insTCCTCAGGGGGGGG (n.530-55_530-54insTCCTCAGGGGGGGG) c.404-55_404-54insTCCTCAGGGGGGGG (n.404-55_404-54insTCCTCAGGGGGGGG) n.606-55_606-54insTCCTCAGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCTGGGGA | CA2612675436 | USH1C | c.497-55_497-54insTCCCCAGGGGGGGG (n.497-55_497-54insTCCCCAGGGGGGGG) c.530-55_530-54insTCCCCAGGGGGGGG (n.530-55_530-54insTCCCCAGGGGGGGG) c.404-55_404-54insTCCCCAGGGGGGGG (n.404-55_404-54insTCCCCAGGGGGGGG) n.606-55_606-54insTCCCCAGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCTGGGGG | CA935547111 | USH1C | c.497-55_497-54insCCCCCAGGGGGGGG (n.497-55_497-54insCCCCCAGGGGGGGG) c.530-55_530-54insCCCCCAGGGGGGGG (n.530-55_530-54insCCCCCAGGGGGGGG) c.404-55_404-54insCCCCCAGGGGGGGG (n.404-55_404-54insCCCCCAGGGGGGGG) n.606-55_606-54insCCCCCAGGGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCTTGGGG | CA2612675450 | USH1C | c.497-55_497-54insCCCCAAGGGGGGGG (n.497-55_497-54insCCCCAAGGGGGGGG) c.530-55_530-54insCCCCAAGGGGGGGG (n.530-55_530-54insCCCCAAGGGGGGGG) c.404-55_404-54insCCCCAAGGGGGGGG (n.404-55_404-54insCCCCAAGGGGGGGG) n.606-55_606-54insCCCCAAGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCTGGGGGA | CA2612675452 | USH1C | c.497-55_497-54insTCCCCCAGGGGGGG (n.497-55_497-54insTCCCCCAGGGGGGG) c.530-55_530-54insTCCCCCAGGGGGGG (n.530-55_530-54insTCCCCCAGGGGGGG) c.404-55_404-54insTCCCCCAGGGGGGG (n.404-55_404-54insTCCCCCAGGGGGGG) n.606-55_606-54insTCCCCCAGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCTTGGGGA | CA2612675458 | USH1C | c.497-55_497-54insTCCCCAAGGGGGGG (n.497-55_497-54insTCCCCAAGGGGGGG) c.530-55_530-54insTCCCCAAGGGGGGG (n.530-55_530-54insTCCCCAAGGGGGGG) c.404-55_404-54insTCCCCAAGGGGGGG (n.404-55_404-54insTCCCCAAGGGGGGG) n.606-55_606-54insTCCCCAAGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCTTGGGGG | CA2612675459 | USH1C | c.497-55_497-54insCCCCCAAGGGGGGG (n.497-55_497-54insCCCCCAAGGGGGGG) c.530-55_530-54insCCCCCAAGGGGGGG (n.530-55_530-54insCCCCCAAGGGGGGG) c.404-55_404-54insCCCCCAAGGGGGGG (n.404-55_404-54insCCCCCAAGGGGGGG) n.606-55_606-54insCCCCCAAGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCAGGGGGGA | CA2612675475 | USH1C | c.497-55_497-54insTCCCCCCTGGGGGGG (n.497-55_497-54insTCCCCCCTGGGGGGG) c.530-55_530-54insTCCCCCCTGGGGGGG (n.530-55_530-54insTCCCCCCTGGGGGGG) c.404-55_404-54insTCCCCCCTGGGGGGG (n.404-55_404-54insTCCCCCCTGGGGGGG) n.606-55_606-54insTCCCCCCTGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCAGGGGGA | CA2612675496 | USH1C | c.497-55_497-54insTCCCCCTGGGGGGGG (n.497-55_497-54insTCCCCCTGGGGGGGG) c.530-55_530-54insTCCCCCTGGGGGGGG (n.530-55_530-54insTCCCCCTGGGGGGGG) c.404-55_404-54insTCCCCCTGGGGGGGG (n.404-55_404-54insTCCCCCTGGGGGGGG) n.606-55_606-54insTCCCCCTGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCAGGGGGG | CA2612675497 | USH1C | c.497-55_497-54insCCCCCCTGGGGGGGG (n.497-55_497-54insCCCCCCTGGGGGGGG) c.530-55_530-54insCCCCCCTGGGGGGGG (n.530-55_530-54insCCCCCCTGGGGGGGG) c.404-55_404-54insCCCCCCTGGGGGGGG (n.404-55_404-54insCCCCCCTGGGGGGGG) n.606-55_606-54insCCCCCCTGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCCAGGGGG | CA2612675511 | USH1C | c.497-55_497-54insCCCCCTGGGGGGGGG (n.497-55_497-54insCCCCCTGGGGGGGGG) c.530-55_530-54insCCCCCTGGGGGGGGG (n.530-55_530-54insCCCCCTGGGGGGGGG) c.404-55_404-54insCCCCCTGGGGGGGGG (n.404-55_404-54insCCCCCTGGGGGGGGG) n.606-55_606-54insCCCCCTGGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCCGGGGGA | CA2790593532 | USH1C | c.497-55_497-54insTCCCCCGGGGGGGGG (n.497-55_497-54insTCCCCCGGGGGGGGG) c.530-55_530-54insTCCCCCGGGGGGGGG (n.530-55_530-54insTCCCCCGGGGGGGGG) c.404-55_404-54insTCCCCCGGGGGGGGG (n.404-55_404-54insTCCCCCGGGGGGGGG) n.606-55_606-54insTCCCCCGGGGGGGGG | |
11 | g.17527094_17527095insCCCCCCCCCGGGGGG | CA2612675423 | USH1C | c.497-55_497-54insCCCCCCGGGGGGGGG (n.497-55_497-54insCCCCCCGGGGGGGGG) c.530-55_530-54insCCCCCCGGGGGGGGG (n.530-55_530-54insCCCCCCGGGGGGGGG) c.404-55_404-54insCCCCCCGGGGGGGGG (n.404-55_404-54insCCCCCCGGGGGGGGG) n.606-55_606-54insCCCCCCGGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCCTGGGAG | CA2612675426 | USH1C | c.497-55_497-54insCTCCCAGGGGGGGGG (n.497-55_497-54insCTCCCAGGGGGGGGG) c.530-55_530-54insCTCCCAGGGGGGGGG (n.530-55_530-54insCTCCCAGGGGGGGGG) c.404-55_404-54insCTCCCAGGGGGGGGG (n.404-55_404-54insCTCCCAGGGGGGGGG) n.606-55_606-54insCTCCCAGGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCCTGGGGG | CA2612675428 | USH1C | c.497-55_497-54insCCCCCAGGGGGGGGG (n.497-55_497-54insCCCCCAGGGGGGGGG) c.530-55_530-54insCCCCCAGGGGGGGGG (n.530-55_530-54insCCCCCAGGGGGGGGG) c.404-55_404-54insCCCCCAGGGGGGGGG (n.404-55_404-54insCCCCCAGGGGGGGGG) n.606-55_606-54insCCCCCAGGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCGGGGGGG | CA2612675432 | USH1C | c.497-55_497-54insCCCCCCCGGGGGGGG (n.497-55_497-54insCCCCCCCGGGGGGGG) c.530-55_530-54insCCCCCCCGGGGGGGG (n.530-55_530-54insCCCCCCCGGGGGGGG) c.404-55_404-54insCCCCCCCGGGGGGGG (n.404-55_404-54insCCCCCCCGGGGGGGG) n.606-55_606-54insCCCCCCCGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCTGGGGAA | CA2612675437 | USH1C | c.497-55_497-54insTTCCCCAGGGGGGGG (n.497-55_497-54insTTCCCCAGGGGGGGG) c.530-55_530-54insTTCCCCAGGGGGGGG (n.530-55_530-54insTTCCCCAGGGGGGGG) c.404-55_404-54insTTCCCCAGGGGGGGG (n.404-55_404-54insTTCCCCAGGGGGGGG) n.606-55_606-54insTTCCCCAGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCTGGGGGA | CA2612675438 | USH1C | c.497-55_497-54insTCCCCCAGGGGGGGG (n.497-55_497-54insTCCCCCAGGGGGGGG) c.530-55_530-54insTCCCCCAGGGGGGGG (n.530-55_530-54insTCCCCCAGGGGGGGG) c.404-55_404-54insTCCCCCAGGGGGGGG (n.404-55_404-54insTCCCCCAGGGGGGGG) n.606-55_606-54insTCCCCCAGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCTGGGGGG | CA2612675445 | USH1C | c.497-55_497-54insCCCCCCAGGGGGGGG (n.497-55_497-54insCCCCCCAGGGGGGGG) c.530-55_530-54insCCCCCCAGGGGGGGG (n.530-55_530-54insCCCCCCAGGGGGGGG) c.404-55_404-54insCCCCCCAGGGGGGGG (n.404-55_404-54insCCCCCCAGGGGGGGG) n.606-55_606-54insCCCCCCAGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCAGGGGGAA | CA2790593523 | USH1C | c.497-55_497-54insTTCCCCCTGGGGGGGG (n.497-55_497-54insTTCCCCCTGGGGGGGG) c.530-55_530-54insTTCCCCCTGGGGGGGG (n.530-55_530-54insTTCCCCCTGGGGGGGG) c.404-55_404-54insTTCCCCCTGGGGGGGG (n.404-55_404-54insTTCCCCCTGGGGGGGG) n.606-55_606-54insTTCCCCCTGGGGGGGG | |
11 | g.17527094_17527095insCCCCCCCCCAGGGGGA | CA2612675513 | USH1C | c.497-55_497-54insTCCCCCTGGGGGGGGG (n.497-55_497-54insTCCCCCTGGGGGGGGG) c.530-55_530-54insTCCCCCTGGGGGGGGG (n.530-55_530-54insTCCCCCTGGGGGGGGG) c.404-55_404-54insTCCCCCTGGGGGGGGG (n.404-55_404-54insTCCCCCTGGGGGGGGG) n.606-55_606-54insTCCCCCTGGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCTGGGGGAG | CA2612675440 | USH1C | c.497-55_497-54insCTCCCCCAGGGGGGGG (n.497-55_497-54insCTCCCCCAGGGGGGGG) c.530-55_530-54insCTCCCCCAGGGGGGGG (n.530-55_530-54insCTCCCCCAGGGGGGGG) c.404-55_404-54insCTCCCCCAGGGGGGGG (n.404-55_404-54insCTCCCCCAGGGGGGGG) n.606-55_606-54insCTCCCCCAGGGGGGGG | gnomAD v4 |
11 | g.17527094_17527095insCCCCCCCCAAGGGGAAAAA | CA2612675461 | USH1C | c.497-55_497-54insTTTTTCCCCTTGGGGGGGG (n.497-55_497-54insTTTTTCCCCTTGGGGGGGG) c.530-55_530-54insTTTTTCCCCTTGGGGGGGG (n.530-55_530-54insTTTTTCCCCTTGGGGGGGG) c.404-55_404-54insTTTTTCCCCTTGGGGGGGG (n.404-55_404-54insTTTTTCCCCTTGGGGGGGG) n.606-55_606-54insTTTTTCCCCTTGGGGGGGG | gnomAD v4 |
11 | g.17527095A= | CA1955186930 | USH1C | c.497-55T= (n.497-55T=) c.530-55T= (n.530-55T=) c.404-55T= (n.404-55T=) n.606-55T= | |
11 | g.17527095A>C | CA597668819 | USH1C | c.497-55T>G (n.497-55T>G) c.530-55T>G (n.530-55T>G) c.404-55T>G (n.404-55T>G) n.606-55T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527095_17527118del | CA597668818 | USH1C | c.497-78_497-55del (n.497-78_497-55del) c.530-78_530-55del (n.530-78_530-55del) c.404-78_404-55del (n.404-78_404-55del) n.606-78_606-55del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527096C>A | CA2790593534 | USH1C | c.497-56G>T (n.497-56G>T) c.530-56G>T (n.530-56G>T) c.404-56G>T (n.404-56G>T) n.606-56G>T | |
11 | g.17527096C>G | CA2790593533 | USH1C | c.497-56G>C (n.497-56G>C) c.530-56G>C (n.530-56G>C) c.404-56G>C (n.404-56G>C) n.606-56G>C | |
11 | g.17527096_17527097del | CA2790593536 | USH1C | c.497-57_497-56del (n.497-57_497-56del) c.530-57_530-56del (n.530-57_530-56del) c.404-57_404-56del (n.404-57_404-56del) n.606-57_606-56del | |
11 | g.17527097_17527098insCCC | CA2612675527 | USH1C | c.497-56_497-55insGGG (n.497-56_497-55insGGG) c.530-56_530-55insGGG (n.530-56_530-55insGGG) c.404-56_404-55insGGG (n.404-56_404-55insGGG) n.606-56_606-55insGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCC | CA2612675531 | USH1C | c.497-56_497-55insGGGG (n.497-56_497-55insGGGG) c.530-56_530-55insGGGG (n.530-56_530-55insGGGG) c.404-56_404-55insGGGG (n.404-56_404-55insGGGG) n.606-56_606-55insGGGG | gnomAD v4 |
11 | g.17527096_17527097dup | CA2612675534 | USH1C | c.497-57_497-56dup (n.497-57_497-56dup) c.530-57_530-56dup (n.530-57_530-56dup) c.404-57_404-56dup (n.404-57_404-56dup) n.606-57_606-56dup | gnomAD v4 |
11 | g.17527097del | CA2790593538 | USH1C | c.497-56del (n.497-56del) c.530-56del (n.530-56del) c.404-56del (n.404-56del) n.606-56del | |
11 | g.17527097_17527100del | CA2790593535 | USH1C | c.497-59_497-56del (n.497-59_497-56del) c.530-59_530-56del (n.530-59_530-56del) c.404-59_404-56del (n.404-59_404-56del) n.606-59_606-56del | |
11 | g.17527096_17527104del | CA2790593537 | USH1C | c.497-64_497-56del (n.497-64_497-56del) c.530-64_530-56del (n.530-64_530-56del) c.404-64_404-56del (n.404-64_404-56del) n.606-64_606-56del | |
11 | g.17527097C>A | CA1955186933 | USH1C | c.497-57G>T (n.497-57G>T) c.530-57G>T (n.530-57G>T) c.404-57G>T (n.404-57G>T) n.606-57G>T | dbSNP gnomAD v4 |
11 | g.17527097C= | CA1955186931 | USH1C | c.497-57G= (n.497-57G=) c.530-57G= (n.530-57G=) c.404-57G= (n.404-57G=) n.606-57G= | |
11 | g.17527097C>G | CA674239460 | USH1C | c.497-57G>C (n.497-57G>C) c.530-57G>C (n.530-57G>C) c.404-57G>C (n.404-57G>C) n.606-57G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527097C>T | CA674239457 | USH1C | c.497-57G>A (n.497-57G>A) c.530-57G>A (n.530-57G>A) c.404-57G>A (n.404-57G>A) n.606-57G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCAC | CA2612675544 | USH1C | c.497-57_497-56insTGGGGG (n.497-57_497-56insTGGGGG) c.530-57_530-56insTGGGGG (n.530-57_530-56insTGGGGG) c.404-57_404-56insTGGGGG (n.404-57_404-56insTGGGGG) n.606-57_606-56insTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTC | CA935547151 | USH1C | c.497-57_497-56insAGGGGG (n.497-57_497-56insAGGGGG) c.530-57_530-56insAGGGGG (n.530-57_530-56insAGGGGG) c.404-57_404-56insAGGGGG (n.404-57_404-56insAGGGGG) n.606-57_606-56insAGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCCGC | CA2790593543 | USH1C | c.497-57_497-56insCGGGGGGG (n.497-57_497-56insCGGGGGGG) c.530-57_530-56insCGGGGGGG (n.530-57_530-56insCGGGGGGG) c.404-57_404-56insCGGGGGGG (n.404-57_404-56insCGGGGGGG) n.606-57_606-56insCGGGGGGG | |
11 | g.17527097_17527098del | CA2790593544 | USH1C | c.497-58_497-57del (n.497-58_497-57del) c.530-58_530-57del (n.530-58_530-57del) c.404-58_404-57del (n.404-58_404-57del) n.606-58_606-57del | |
11 | g.17527098_17527100del | CA2612675548 | USH1C | c.497-59_497-57del (n.497-59_497-57del) c.530-59_530-57del (n.530-59_530-57del) c.404-59_404-57del (n.404-59_404-57del) n.606-59_606-57del | dbSNP gnomAD v4 |
11 | g.17527097_17527118delinsCGTCATGGAGTACTGACCTGCT | CA1955186932 | USH1C | c.497-78_497-57delinsAGCAGGTCAGTACTCCATGACG (n.497-78_497-57delinsAGCAGGTCAGTACTCCATGACG) c.530-78_530-57delinsAGCAGGTCAGTACTCCATGACG (n.530-78_530-57delinsAGCAGGTCAGTACTCCATGACG) c.404-78_404-57delinsAGCAGGTCAGTACTCCATGACG (n.404-78_404-57delinsAGCAGGTCAGTACTCCATGACG) n.606-78_606-57delinsAGCAGGTCAGTACTCCATGACG | |
11 | g.17527097_17527098insA | CA2790593779 | USH1C | c.497-58_497-57insT (n.497-58_497-57insT) c.530-58_530-57insT (n.530-58_530-57insT) c.404-58_404-57insT (n.404-58_404-57insT) n.606-58_606-57insT | |
11 | g.17527097_17527098insAGA | CA2790593777 | USH1C | c.497-58_497-57insTCT (n.497-58_497-57insTCT) c.530-58_530-57insTCT (n.530-58_530-57insTCT) c.404-58_404-57insTCT (n.404-58_404-57insTCT) n.606-58_606-57insTCT | |
11 | g.17527097_17527098insCCCCA | CA935547212 | USH1C | c.497-58_497-57insTGGGG (n.497-58_497-57insTGGGG) c.530-58_530-57insTGGGG (n.530-58_530-57insTGGGG) c.404-58_404-57insTGGGG (n.404-58_404-57insTGGGG) n.606-58_606-57insTGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCG | CA2612676114 | USH1C | c.497-58_497-57insCGGGG (n.497-58_497-57insCGGGG) c.530-58_530-57insCGGGG (n.530-58_530-57insCGGGG) c.404-58_404-57insCGGGG (n.404-58_404-57insCGGGG) n.606-58_606-57insCGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCAAA | CA2612676202 | USH1C | c.497-58_497-57insTTTGGG (n.497-58_497-57insTTTGGG) c.530-58_530-57insTTTGGG (n.530-58_530-57insTTTGGG) c.404-58_404-57insTTTGGG (n.404-58_404-57insTTTGGG) n.606-58_606-57insTTTGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAA | CA2612676223 | USH1C | c.497-58_497-57insTTGGGG (n.497-58_497-57insTTGGGG) c.530-58_530-57insTTGGGG (n.530-58_530-57insTTGGGG) c.404-58_404-57insTTGGGG (n.404-58_404-57insTTGGGG) n.606-58_606-57insTTGGGG | dbSNP gnomAD v4 |
11 | g.17527097_17527098insCCCCAG | CA935547216 | USH1C | c.497-58_497-57insCTGGGG (n.497-58_497-57insCTGGGG) c.530-58_530-57insCTGGGG (n.530-58_530-57insCTGGGG) c.404-58_404-57insCTGGGG (n.404-58_404-57insCTGGGG) n.606-58_606-57insCTGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCA | CA935547241 | USH1C | c.497-58_497-57insTGGGGG (n.497-58_497-57insTGGGGG) c.530-58_530-57insTGGGGG (n.530-58_530-57insTGGGGG) c.404-58_404-57insTGGGGG (n.404-58_404-57insTGGGGG) n.606-58_606-57insTGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCG | CA935547179 | USH1C | c.497-58_497-57insCGGGGG (n.497-58_497-57insCGGGGG) c.530-58_530-57insCGGGGG (n.530-58_530-57insCGGGGG) c.404-58_404-57insCGGGGG (n.404-58_404-57insCGGGGG) n.606-58_606-57insCGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCT | CA597668826 | USH1C | c.497-58_497-57insAGGGGG (n.497-58_497-57insAGGGGG) c.530-58_530-57insAGGGGG (n.530-58_530-57insAGGGGG) c.404-58_404-57insAGGGGG (n.404-58_404-57insAGGGGG) n.606-58_606-57insAGGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCTT | CA2612676071 | USH1C | c.497-58_497-57insAAGGGG (n.497-58_497-57insAAGGGG) c.530-58_530-57insAAGGGG (n.530-58_530-57insAAGGGG) c.404-58_404-57insAAGGGG (n.404-58_404-57insAAGGGG) n.606-58_606-57insAAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCAAAG | CA2612676209 | USH1C | c.497-58_497-57insCTTTGGG (n.497-58_497-57insCTTTGGG) c.530-58_530-57insCTTTGGG (n.530-58_530-57insCTTTGGG) c.404-58_404-57insCTTTGGG (n.404-58_404-57insCTTTGGG) n.606-58_606-57insCTTTGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCACAG | CA2612676216 | USH1C | c.497-58_497-57insCTGTGGG (n.497-58_497-57insCTGTGGG) c.530-58_530-57insCTGTGGG (n.530-58_530-57insCTGTGGG) c.404-58_404-57insCTGTGGG (n.404-58_404-57insCTGTGGG) n.606-58_606-57insCTGTGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAAA | CA2612676227 | USH1C | c.497-58_497-57insTTTGGGG (n.497-58_497-57insTTTGGGG) c.530-58_530-57insTTTGGGG (n.530-58_530-57insTTTGGGG) c.404-58_404-57insTTTGGGG (n.404-58_404-57insTTTGGGG) n.606-58_606-57insTTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAAG | CA2612676242 | USH1C | c.497-58_497-57insCTTGGGG (n.497-58_497-57insCTTGGGG) c.530-58_530-57insCTTGGGG (n.530-58_530-57insCTTGGGG) c.404-58_404-57insCTTGGGG (n.404-58_404-57insCTTGGGG) n.606-58_606-57insCTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAGG | CA2612676151 | USH1C | c.497-58_497-57insCCTGGGG (n.497-58_497-57insCCTGGGG) c.530-58_530-57insCCTGGGG (n.530-58_530-57insCCTGGGG) c.404-58_404-57insCCTGGGG (n.404-58_404-57insCCTGGGG) n.606-58_606-57insCCTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAA | CA2612676320 | USH1C | c.497-58_497-57insTTGGGGG (n.497-58_497-57insTTGGGGG) c.530-58_530-57insTTGGGGG (n.530-58_530-57insTTGGGGG) c.404-58_404-57insTTGGGGG (n.404-58_404-57insTTGGGGG) n.606-58_606-57insTTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAG | CA935547242 | USH1C | c.497-58_497-57insCTGGGGG (n.497-58_497-57insCTGGGGG) c.530-58_530-57insCTGGGGG (n.530-58_530-57insCTGGGGG) c.404-58_404-57insCTGGGGG (n.404-58_404-57insCTGGGGG) n.606-58_606-57insCTGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCCA | CA2612676327 | USH1C | c.497-58_497-57insTGGGGGG (n.497-58_497-57insTGGGGGG) c.530-58_530-57insTGGGGGG (n.530-58_530-57insTGGGGGG) c.404-58_404-57insTGGGGGG (n.404-58_404-57insTGGGGGG) n.606-58_606-57insTGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCG | CA935547192 | USH1C | c.497-58_497-57insCGGGGGG (n.497-58_497-57insCGGGGGG) c.530-58_530-57insCGGGGGG (n.530-58_530-57insCGGGGGG) c.404-58_404-57insCGGGGGG (n.404-58_404-57insCGGGGGG) n.606-58_606-57insCGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCCT | CA935547267 | USH1C | c.497-58_497-57insAGGGGGG (n.497-58_497-57insAGGGGGG) c.530-58_530-57insAGGGGGG (n.530-58_530-57insAGGGGGG) c.404-58_404-57insAGGGGGG (n.404-58_404-57insAGGGGGG) n.606-58_606-57insAGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCGG | CA2612676058 | USH1C | c.497-58_497-57insCCGGGGG (n.497-58_497-57insCCGGGGG) c.530-58_530-57insCCGGGGG (n.530-58_530-57insCCGGGGG) c.404-58_404-57insCCGGGGG (n.404-58_404-57insCCGGGGG) n.606-58_606-57insCCGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCGT | CA2612676005 | USH1C | c.497-58_497-57insACGGGGG (n.497-58_497-57insACGGGGG) c.530-58_530-57insACGGGGG (n.530-58_530-57insACGGGGG) c.404-58_404-57insACGGGGG (n.404-58_404-57insACGGGGG) n.606-58_606-57insACGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTG | CA597668825 | USH1C | c.497-58_497-57insCAGGGGG (n.497-58_497-57insCAGGGGG) c.530-58_530-57insCAGGGGG (n.530-58_530-57insCAGGGGG) c.404-58_404-57insCAGGGGG (n.404-58_404-57insCAGGGGG) n.606-58_606-57insCAGGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCTT | CA2612676125 | USH1C | c.497-58_497-57insAAGGGGG (n.497-58_497-57insAAGGGGG) c.530-58_530-57insAAGGGGG (n.530-58_530-57insAAGGGGG) c.404-58_404-57insAAGGGGG (n.404-58_404-57insAAGGGGG) n.606-58_606-57insAAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCGCG | CA2612676112 | USH1C | c.497-58_497-57insCGCGGGG (n.497-58_497-57insCGCGGGG) c.530-58_530-57insCGCGGGG (n.530-58_530-57insCGCGGGG) c.404-58_404-57insCGCGGGG (n.404-58_404-57insCGCGGGG) n.606-58_606-57insCGCGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTAG | CA2612676108 | USH1C | c.497-58_497-57insCTAGGGG (n.497-58_497-57insCTAGGGG) c.530-58_530-57insCTAGGGG (n.530-58_530-57insCTAGGGG) c.404-58_404-57insCTAGGGG (n.404-58_404-57insCTAGGGG) n.606-58_606-57insCTAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTCG | CA2790593706 | USH1C | c.497-58_497-57insCGAGGGG (n.497-58_497-57insCGAGGGG) c.530-58_530-57insCGAGGGG (n.530-58_530-57insCGAGGGG) c.404-58_404-57insCGAGGGG (n.404-58_404-57insCGAGGGG) n.606-58_606-57insCGAGGGG | |
11 | g.17527097_17527098insCCCCTTG | CA2612676074 | USH1C | c.497-58_497-57insCAAGGGG (n.497-58_497-57insCAAGGGG) c.530-58_530-57insCAAGGGG (n.530-58_530-57insCAAGGGG) c.404-58_404-57insCAAGGGG (n.404-58_404-57insCAAGGGG) n.606-58_606-57insCAAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCAAAGG | CA2612676214 | USH1C | c.497-58_497-57insCCTTTGGG (n.497-58_497-57insCCTTTGGG) c.530-58_530-57insCCTTTGGG (n.530-58_530-57insCCTTTGGG) c.404-58_404-57insCCTTTGGG (n.404-58_404-57insCCTTTGGG) n.606-58_606-57insCCTTTGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCACTGG | CA2612676219 | USH1C | c.497-58_497-57insCCAGTGGG (n.497-58_497-57insCCAGTGGG) c.530-58_530-57insCCAGTGGG (n.530-58_530-57insCCAGTGGG) c.404-58_404-57insCCAGTGGG (n.404-58_404-57insCCAGTGGG) n.606-58_606-57insCCAGTGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAAAG | CA2612676230 | USH1C | c.497-58_497-57insCTTTGGGG (n.497-58_497-57insCTTTGGGG) c.530-58_530-57insCTTTGGGG (n.530-58_530-57insCTTTGGGG) c.404-58_404-57insCTTTGGGG (n.404-58_404-57insCTTTGGGG) n.606-58_606-57insCTTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAAGG | CA2612676246 | USH1C | c.497-58_497-57insCCTTGGGG (n.497-58_497-57insCCTTGGGG) c.530-58_530-57insCCTTGGGG (n.530-58_530-57insCCTTGGGG) c.404-58_404-57insCCTTGGGG (n.404-58_404-57insCCTTGGGG) n.606-58_606-57insCCTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAAGT | CA2612676155 | USH1C | c.497-58_497-57insACTTGGGG (n.497-58_497-57insACTTGGGG) c.530-58_530-57insACTTGGGG (n.530-58_530-57insACTTGGGG) c.404-58_404-57insACTTGGGG (n.404-58_404-57insACTTGGGG) n.606-58_606-57insACTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCACAG | CA2790593755 | USH1C | c.497-58_497-57insCTGTGGGG (n.497-58_497-57insCTGTGGGG) c.530-58_530-57insCTGTGGGG (n.530-58_530-57insCTGTGGGG) c.404-58_404-57insCTGTGGGG (n.404-58_404-57insCTGTGGGG) n.606-58_606-57insCTGTGGGG | |
11 | g.17527097_17527098insCCCCACGG | CA2612676160 | USH1C | c.497-58_497-57insCCGTGGGG (n.497-58_497-57insCCGTGGGG) c.530-58_530-57insCCGTGGGG (n.530-58_530-57insCCGTGGGG) c.404-58_404-57insCCGTGGGG (n.404-58_404-57insCCGTGGGG) n.606-58_606-57insCCGTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAGGG | CA935547238 | USH1C | c.497-58_497-57insCCCTGGGG (n.497-58_497-57insCCCTGGGG) c.530-58_530-57insCCCTGGGG (n.530-58_530-57insCCCTGGGG) c.404-58_404-57insCCCTGGGG (n.404-58_404-57insCCCTGGGG) n.606-58_606-57insCCCTGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCATGG | CA2612676187 | USH1C | c.497-58_497-57insCCATGGGG (n.497-58_497-57insCCATGGGG) c.530-58_530-57insCCATGGGG (n.530-58_530-57insCCATGGGG) c.404-58_404-57insCCATGGGG (n.404-58_404-57insCCATGGGG) n.606-58_606-57insCCATGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAAG | CA2612676287 | USH1C | c.497-58_497-57insCTTGGGGG (n.497-58_497-57insCTTGGGGG) c.530-58_530-57insCTTGGGGG (n.530-58_530-57insCTTGGGGG) c.404-58_404-57insCTTGGGGG (n.404-58_404-57insCTTGGGGG) n.606-58_606-57insCTTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAGA | CA2612676364 | USH1C | c.497-58_497-57insTCTGGGGG (n.497-58_497-57insTCTGGGGG) c.530-58_530-57insTCTGGGGG (n.530-58_530-57insTCTGGGGG) c.404-58_404-57insTCTGGGGG (n.404-58_404-57insTCTGGGGG) n.606-58_606-57insTCTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAGG | CA2612676382 | USH1C | c.497-58_497-57insCCTGGGGG (n.497-58_497-57insCCTGGGGG) c.530-58_530-57insCCTGGGGG (n.530-58_530-57insCCTGGGGG) c.404-58_404-57insCCTGGGGG (n.404-58_404-57insCCTGGGGG) n.606-58_606-57insCCTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCAA | CA2612676336 | USH1C | c.497-58_497-57insTTGGGGGG (n.497-58_497-57insTTGGGGGG) c.530-58_530-57insTTGGGGGG (n.530-58_530-57insTTGGGGGG) c.404-58_404-57insTTGGGGGG (n.404-58_404-57insTTGGGGGG) n.606-58_606-57insTTGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCAG | CA935547265 | USH1C | c.497-58_497-57insCTGGGGGG (n.497-58_497-57insCTGGGGGG) c.530-58_530-57insCTGGGGGG (n.530-58_530-57insCTGGGGGG) c.404-58_404-57insCTGGGGGG (n.404-58_404-57insCTGGGGGG) n.606-58_606-57insCTGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCCCA | CA2612676267 | USH1C | c.497-58_497-57insTGGGGGGG (n.497-58_497-57insTGGGGGGG) c.530-58_530-57insTGGGGGGG (n.530-58_530-57insTGGGGGGG) c.404-58_404-57insTGGGGGGG (n.404-58_404-57insTGGGGGGG) n.606-58_606-57insTGGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCCG | CA935547249 | USH1C | c.497-58_497-57insCGGGGGGG (n.497-58_497-57insCGGGGGGG) c.530-58_530-57insCGGGGGGG (n.530-58_530-57insCGGGGGGG) c.404-58_404-57insCGGGGGGG (n.404-58_404-57insCGGGGGGG) n.606-58_606-57insCGGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCCCT | CA2612676297 | USH1C | c.497-58_497-57insAGGGGGGG (n.497-58_497-57insAGGGGGGG) c.530-58_530-57insAGGGGGGG (n.530-58_530-57insAGGGGGGG) c.404-58_404-57insAGGGGGGG (n.404-58_404-57insAGGGGGGG) n.606-58_606-57insAGGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCGG | CA935547277 | USH1C | c.497-58_497-57insCCGGGGGG (n.497-58_497-57insCCGGGGGG) c.530-58_530-57insCCGGGGGG (n.530-58_530-57insCCGGGGGG) c.404-58_404-57insCCGGGGGG (n.404-58_404-57insCCGGGGGG) n.606-58_606-57insCCGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCCGT | CA2612676029 | USH1C | c.497-58_497-57insACGGGGGG (n.497-58_497-57insACGGGGGG) c.530-58_530-57insACGGGGGG (n.530-58_530-57insACGGGGGG) c.404-58_404-57insACGGGGGG (n.404-58_404-57insACGGGGGG) n.606-58_606-57insACGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCTG | CA935547204 | USH1C | c.497-58_497-57insCAGGGGGG (n.497-58_497-57insCAGGGGGG) c.530-58_530-57insCAGGGGGG (n.530-58_530-57insCAGGGGGG) c.404-58_404-57insCAGGGGGG (n.404-58_404-57insCAGGGGGG) n.606-58_606-57insCAGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCGGG | CA2612676059 | USH1C | c.497-58_497-57insCCCGGGGG (n.497-58_497-57insCCCGGGGG) c.530-58_530-57insCCCGGGGG (n.530-58_530-57insCCCGGGGG) c.404-58_404-57insCCCGGGGG (n.404-58_404-57insCCCGGGGG) n.606-58_606-57insCCCGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCGTG | CA2612676009 | USH1C | c.497-58_497-57insCACGGGGG (n.497-58_497-57insCACGGGGG) c.530-58_530-57insCACGGGGG (n.530-58_530-57insCACGGGGG) c.404-58_404-57insCACGGGGG (n.404-58_404-57insCACGGGGG) n.606-58_606-57insCACGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGG | CA935547190 | USH1C | c.497-58_497-57insCCAGGGGG (n.497-58_497-57insCCAGGGGG) c.530-58_530-57insCCAGGGGG (n.530-58_530-57insCCAGGGGG) c.404-58_404-57insCCAGGGGG (n.404-58_404-57insCCAGGGGG) n.606-58_606-57insCCAGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCTTG | CA2612676122 | USH1C | c.497-58_497-57insCAAGGGGG (n.497-58_497-57insCAAGGGGG) c.530-58_530-57insCAAGGGGG (n.530-58_530-57insCAAGGGGG) c.404-58_404-57insCAAGGGGG (n.404-58_404-57insCAAGGGGG) n.606-58_606-57insCAAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTAGG | CA2612676103 | USH1C | c.497-58_497-57insCCTAGGGG (n.497-58_497-57insCCTAGGGG) c.530-58_530-57insCCTAGGGG (n.530-58_530-57insCCTAGGGG) c.404-58_404-57insCCTAGGGG (n.404-58_404-57insCCTAGGGG) n.606-58_606-57insCCTAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTCGG | CA2612676099 | USH1C | c.497-58_497-57insCCGAGGGG (n.497-58_497-57insCCGAGGGG) c.530-58_530-57insCCGAGGGG (n.530-58_530-57insCCGAGGGG) c.404-58_404-57insCCGAGGGG (n.404-58_404-57insCCGAGGGG) n.606-58_606-57insCCGAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTCTG | CA2612676068 | USH1C | c.497-58_497-57insCAGAGGGG (n.497-58_497-57insCAGAGGGG) c.530-58_530-57insCAGAGGGG (n.530-58_530-57insCAGAGGGG) c.404-58_404-57insCAGAGGGG (n.404-58_404-57insCAGAGGGG) n.606-58_606-57insCAGAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTTGG | CA2612676076 | USH1C | c.497-58_497-57insCCAAGGGG (n.497-58_497-57insCCAAGGGG) c.530-58_530-57insCCAAGGGG (n.530-58_530-57insCCAAGGGG) c.404-58_404-57insCCAAGGGG (n.404-58_404-57insCCAAGGGG) n.606-58_606-57insCCAAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAAAAG | CA2612676198 | USH1C | c.497-58_497-57insCTTTTGGGG (n.497-58_497-57insCTTTTGGGG) c.530-58_530-57insCTTTTGGGG (n.530-58_530-57insCTTTTGGGG) c.404-58_404-57insCTTTTGGGG (n.404-58_404-57insCTTTTGGGG) n.606-58_606-57insCTTTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAAAGG | CA2612676237 | USH1C | c.497-58_497-57insCCTTTGGGG (n.497-58_497-57insCCTTTGGGG) c.530-58_530-57insCCTTTGGGG (n.530-58_530-57insCCTTTGGGG) c.404-58_404-57insCCTTTGGGG (n.404-58_404-57insCCTTTGGGG) n.606-58_606-57insCCTTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAACAG | CA2612676240 | USH1C | c.497-58_497-57insCTGTTGGGG (n.497-58_497-57insCTGTTGGGG) c.530-58_530-57insCTGTTGGGG (n.530-58_530-57insCTGTTGGGG) c.404-58_404-57insCTGTTGGGG (n.404-58_404-57insCTGTTGGGG) n.606-58_606-57insCTGTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAAGGG | CA2612676176 | USH1C | c.497-58_497-57insCCCTTGGGG (n.497-58_497-57insCCCTTGGGG) c.530-58_530-57insCCCTTGGGG (n.530-58_530-57insCCCTTGGGG) c.404-58_404-57insCCCTTGGGG (n.404-58_404-57insCCCTTGGGG) n.606-58_606-57insCCCTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCACAGG | CA2612676157 | USH1C | c.497-58_497-57insCCTGTGGGG (n.497-58_497-57insCCTGTGGGG) c.530-58_530-57insCCTGTGGGG (n.530-58_530-57insCCTGTGGGG) c.404-58_404-57insCCTGTGGGG (n.404-58_404-57insCCTGTGGGG) n.606-58_606-57insCCTGTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCACGGG | CA2612676164 | USH1C | c.497-58_497-57insCCCGTGGGG (n.497-58_497-57insCCCGTGGGG) c.530-58_530-57insCCCGTGGGG (n.530-58_530-57insCCCGTGGGG) c.404-58_404-57insCCCGTGGGG (n.404-58_404-57insCCCGTGGGG) n.606-58_606-57insCCCGTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAGCGG | CA2790593749 | USH1C | c.497-58_497-57insCCGCTGGGG (n.497-58_497-57insCCGCTGGGG) c.530-58_530-57insCCGCTGGGG (n.530-58_530-57insCCGCTGGGG) c.404-58_404-57insCCGCTGGGG (n.404-58_404-57insCCGCTGGGG) n.606-58_606-57insCCGCTGGGG | |
11 | g.17527097_17527098insCCCCAGGGG | CA913562527 | USH1C | c.497-58_497-57insCCCCTGGGG (n.497-58_497-57insCCCCTGGGG) c.530-58_530-57insCCCCTGGGG (n.530-58_530-57insCCCCTGGGG) c.404-58_404-57insCCCCTGGGG (n.404-58_404-57insCCCCTGGGG) n.606-58_606-57insCCCCTGGGG | gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCAAGG | CA2612676331 | USH1C | c.497-58_497-57insCCTTGGGGG (n.497-58_497-57insCCTTGGGGG) c.530-58_530-57insCCTTGGGGG (n.530-58_530-57insCCTTGGGGG) c.404-58_404-57insCCTTGGGGG (n.404-58_404-57insCCTTGGGGG) n.606-58_606-57insCCTTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCACAG | CA2612676344 | USH1C | c.497-58_497-57insCTGTGGGGG (n.497-58_497-57insCTGTGGGGG) c.530-58_530-57insCTGTGGGGG (n.530-58_530-57insCTGTGGGGG) c.404-58_404-57insCTGTGGGGG (n.404-58_404-57insCTGTGGGGG) n.606-58_606-57insCTGTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAGAG | CA2612676375 | USH1C | c.497-58_497-57insCTCTGGGGG (n.497-58_497-57insCTCTGGGGG) c.530-58_530-57insCTCTGGGGG (n.530-58_530-57insCTCTGGGGG) c.404-58_404-57insCTCTGGGGG (n.404-58_404-57insCTCTGGGGG) n.606-58_606-57insCTCTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAGGA | CA2790593838 | USH1C | c.497-58_497-57insTCCTGGGGG (n.497-58_497-57insTCCTGGGGG) c.530-58_530-57insTCCTGGGGG (n.530-58_530-57insTCCTGGGGG) c.404-58_404-57insTCCTGGGGG (n.404-58_404-57insTCCTGGGGG) n.606-58_606-57insTCCTGGGGG | |
11 | g.17527097_17527098insCCCCCAGGG | CA2592429712 | USH1C | c.497-58_497-57insCCCTGGGGG (n.497-58_497-57insCCCTGGGGG) c.530-58_530-57insCCCTGGGGG (n.530-58_530-57insCCCTGGGGG) c.404-58_404-57insCCCTGGGGG (n.404-58_404-57insCCCTGGGGG) n.606-58_606-57insCCCTGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCAGGT | CA2612676413 | USH1C | c.497-58_497-57insACCTGGGGG (n.497-58_497-57insACCTGGGGG) c.530-58_530-57insACCTGGGGG (n.530-58_530-57insACCTGGGGG) c.404-58_404-57insACCTGGGGG (n.404-58_404-57insACCTGGGGG) n.606-58_606-57insACCTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCATGG | CA2790593853 | USH1C | c.497-58_497-57insCCATGGGGG (n.497-58_497-57insCCATGGGGG) c.530-58_530-57insCCATGGGGG (n.530-58_530-57insCCATGGGGG) c.404-58_404-57insCCATGGGGG (n.404-58_404-57insCCATGGGGG) n.606-58_606-57insCCATGGGGG | |
11 | g.17527097_17527098insCCCCCCAGG | CA2612676257 | USH1C | c.497-58_497-57insCCTGGGGGG (n.497-58_497-57insCCTGGGGGG) c.530-58_530-57insCCTGGGGGG (n.530-58_530-57insCCTGGGGGG) c.404-58_404-57insCCTGGGGGG (n.404-58_404-57insCCTGGGGGG) n.606-58_606-57insCCTGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCCAG | CA2612676273 | USH1C | c.497-58_497-57insCTGGGGGGG (n.497-58_497-57insCTGGGGGGG) c.530-58_530-57insCTGGGGGGG (n.530-58_530-57insCTGGGGGGG) c.404-58_404-57insCTGGGGGGG (n.404-58_404-57insCTGGGGGGG) n.606-58_606-57insCTGGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCCGG | CA935547284 | USH1C | c.497-58_497-57insCCGGGGGGG (n.497-58_497-57insCCGGGGGGG) c.530-58_530-57insCCGGGGGGG (n.530-58_530-57insCCGGGGGGG) c.404-58_404-57insCCGGGGGGG (n.404-58_404-57insCCGGGGGGG) n.606-58_606-57insCCGGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCCTG | CA2612676300 | USH1C | c.497-58_497-57insCAGGGGGGG (n.497-58_497-57insCAGGGGGGG) c.530-58_530-57insCAGGGGGGG (n.530-58_530-57insCAGGGGGGG) c.404-58_404-57insCAGGGGGGG (n.404-58_404-57insCAGGGGGGG) n.606-58_606-57insCAGGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCGGG | CA935547283 | USH1C | c.497-58_497-57insCCCGGGGGG (n.497-58_497-57insCCCGGGGGG) c.530-58_530-57insCCCGGGGGG (n.530-58_530-57insCCCGGGGGG) c.404-58_404-57insCCCGGGGGG (n.404-58_404-57insCCCGGGGGG) n.606-58_606-57insCCCGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCCGTG | CA2612676032 | USH1C | c.497-58_497-57insCACGGGGGG (n.497-58_497-57insCACGGGGGG) c.530-58_530-57insCACGGGGGG (n.530-58_530-57insCACGGGGGG) c.404-58_404-57insCACGGGGGG (n.404-58_404-57insCACGGGGGG) n.606-58_606-57insCACGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCTCG | CA2612676039 | USH1C | c.497-58_497-57insCGAGGGGGG (n.497-58_497-57insCGAGGGGGG) c.530-58_530-57insCGAGGGGGG (n.530-58_530-57insCGAGGGGGG) c.404-58_404-57insCGAGGGGGG (n.404-58_404-57insCGAGGGGGG) n.606-58_606-57insCGAGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCTGG | CA935547206 | USH1C | c.497-58_497-57insCCAGGGGGG (n.497-58_497-57insCCAGGGGGG) c.530-58_530-57insCCAGGGGGG (n.530-58_530-57insCCAGGGGGG) c.404-58_404-57insCCAGGGGGG (n.404-58_404-57insCCAGGGGGG) n.606-58_606-57insCCAGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCGGGG | CA2612676042 | USH1C | c.497-58_497-57insCCCCGGGGG (n.497-58_497-57insCCCCGGGGG) c.530-58_530-57insCCCCGGGGG (n.530-58_530-57insCCCCGGGGG) c.404-58_404-57insCCCCGGGGG (n.404-58_404-57insCCCCGGGGG) n.606-58_606-57insCCCCGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGAG | CA2790593607 | USH1C | c.497-58_497-57insCTCAGGGGG (n.497-58_497-57insCTCAGGGGG) c.530-58_530-57insCTCAGGGGG (n.530-58_530-57insCTCAGGGGG) c.404-58_404-57insCTCAGGGGG (n.404-58_404-57insCTCAGGGGG) n.606-58_606-57insCTCAGGGGG | |
11 | g.17527097_17527098insCCCCCTGGG | CA935547191 | USH1C | c.497-58_497-57insCCCAGGGGG (n.497-58_497-57insCCCAGGGGG) c.530-58_530-57insCCCAGGGGG (n.530-58_530-57insCCCAGGGGG) c.404-58_404-57insCCCAGGGGG (n.404-58_404-57insCCCAGGGGG) n.606-58_606-57insCCCAGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCTTGG | CA2612676120 | USH1C | c.497-58_497-57insCCAAGGGGG (n.497-58_497-57insCCAAGGGGG) c.530-58_530-57insCCAAGGGGG (n.530-58_530-57insCCAAGGGGG) c.404-58_404-57insCCAAGGGGG (n.404-58_404-57insCCAAGGGGG) n.606-58_606-57insCCAAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTCGGG | CA935547197 | USH1C | c.497-58_497-57insCCCGAGGGG (n.497-58_497-57insCCCGAGGGG) c.530-58_530-57insCCCGAGGGG (n.530-58_530-57insCCCGAGGGG) c.404-58_404-57insCCCGAGGGG (n.404-58_404-57insCCCGAGGGG) n.606-58_606-57insCCCGAGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCTGGGG | CA2790593688 | USH1C | c.497-58_497-57insCCCCAGGGG (n.497-58_497-57insCCCCAGGGG) c.530-58_530-57insCCCCAGGGG (n.530-58_530-57insCCCCAGGGG) c.404-58_404-57insCCCCAGGGG (n.404-58_404-57insCCCCAGGGG) n.606-58_606-57insCCCCAGGGG | |
11 | g.17527097_17527098insCCCCTTGGG | CA2612676078 | USH1C | c.497-58_497-57insCCCAAGGGG (n.497-58_497-57insCCCAAGGGG) c.530-58_530-57insCCCAAGGGG (n.530-58_530-57insCCCAAGGGG) c.404-58_404-57insCCCAAGGGG (n.404-58_404-57insCCCAAGGGG) n.606-58_606-57insCCCAAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAAGAGG | CA2612676244 | USH1C | c.497-58_497-57insCCTCTTGGGG (n.497-58_497-57insCCTCTTGGGG) c.530-58_530-57insCCTCTTGGGG (n.530-58_530-57insCCTCTTGGGG) c.404-58_404-57insCCTCTTGGGG (n.404-58_404-57insCCTCTTGGGG) n.606-58_606-57insCCTCTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAAGGAG | CA2612676252 | USH1C | c.497-58_497-57insCTCCTTGGGG (n.497-58_497-57insCTCCTTGGGG) c.530-58_530-57insCTCCTTGGGG (n.530-58_530-57insCTCCTTGGGG) c.404-58_404-57insCTCCTTGGGG (n.404-58_404-57insCTCCTTGGGG) n.606-58_606-57insCTCCTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAAGGGG | CA2542219245 | USH1C | c.497-58_497-57insCCCCTTGGGG (n.497-58_497-57insCCCCTTGGGG) c.530-58_530-57insCCCCTTGGGG (n.530-58_530-57insCCCCTTGGGG) c.404-58_404-57insCCCCTTGGGG (n.404-58_404-57insCCCCTTGGGG) n.606-58_606-57insCCCCTTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCACGGGG | CA2612676168 | USH1C | c.497-58_497-57insCCCCGTGGGG (n.497-58_497-57insCCCCGTGGGG) c.530-58_530-57insCCCCGTGGGG (n.530-58_530-57insCCCCGTGGGG) c.404-58_404-57insCCCCGTGGGG (n.404-58_404-57insCCCCGTGGGG) n.606-58_606-57insCCCCGTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAGAGGG | CA2612676171 | USH1C | c.497-58_497-57insCCCTCTGGGG (n.497-58_497-57insCCCTCTGGGG) c.530-58_530-57insCCCTCTGGGG (n.530-58_530-57insCCCTCTGGGG) c.404-58_404-57insCCCTCTGGGG (n.404-58_404-57insCCCTCTGGGG) n.606-58_606-57insCCCTCTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAGGGGG | CA2612676183 | USH1C | c.497-58_497-57insCCCCCTGGGG (n.497-58_497-57insCCCCCTGGGG) c.530-58_530-57insCCCCCTGGGG (n.530-58_530-57insCCCCCTGGGG) c.404-58_404-57insCCCCCTGGGG (n.404-58_404-57insCCCCCTGGGG) n.606-58_606-57insCCCCCTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCAGGGGT | CA2543151266 | USH1C | c.497-58_497-57insACCCCTGGGG (n.497-58_497-57insACCCCTGGGG) c.530-58_530-57insACCCCTGGGG (n.530-58_530-57insACCCCTGGGG) c.404-58_404-57insACCCCTGGGG (n.404-58_404-57insACCCCTGGGG) n.606-58_606-57insACCCCTGGGG | |
11 | g.17527097_17527098insCCCCAGTGGG | CA2612676185 | USH1C | c.497-58_497-57insCCCACTGGGG (n.497-58_497-57insCCCACTGGGG) c.530-58_530-57insCCCACTGGGG (n.530-58_530-57insCCCACTGGGG) c.404-58_404-57insCCCACTGGGG (n.404-58_404-57insCCCACTGGGG) n.606-58_606-57insCCCACTGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCATGGGG | CA2612676191 | USH1C | c.497-58_497-57insCCCCATGGGG (n.497-58_497-57insCCCCATGGGG) c.530-58_530-57insCCCCATGGGG (n.530-58_530-57insCCCCATGGGG) c.404-58_404-57insCCCCATGGGG (n.404-58_404-57insCCCCATGGGG) n.606-58_606-57insCCCCATGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAAGGG | CA2612676341 | USH1C | c.497-58_497-57insCCCTTGGGGG (n.497-58_497-57insCCCTTGGGGG) c.530-58_530-57insCCCTTGGGGG (n.530-58_530-57insCCCTTGGGGG) c.404-58_404-57insCCCTTGGGGG (n.404-58_404-57insCCCTTGGGGG) n.606-58_606-57insCCCTTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCACAGG | CA2612676351 | USH1C | c.497-58_497-57insCCTGTGGGGG (n.497-58_497-57insCCTGTGGGGG) c.530-58_530-57insCCTGTGGGGG (n.530-58_530-57insCCTGTGGGGG) c.404-58_404-57insCCTGTGGGGG (n.404-58_404-57insCCTGTGGGGG) n.606-58_606-57insCCTGTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAGGGG | CA935547245 | USH1C | c.497-58_497-57insCCCCTGGGGG (n.497-58_497-57insCCCCTGGGGG) c.530-58_530-57insCCCCTGGGGG (n.530-58_530-57insCCCCTGGGGG) c.404-58_404-57insCCCCTGGGGG (n.404-58_404-57insCCCCTGGGGG) n.606-58_606-57insCCCCTGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCAGGGT | CA2612676406 | USH1C | c.497-58_497-57insACCCTGGGGG (n.497-58_497-57insACCCTGGGGG) c.530-58_530-57insACCCTGGGGG (n.530-58_530-57insACCCTGGGGG) c.404-58_404-57insACCCTGGGGG (n.404-58_404-57insACCCTGGGGG) n.606-58_606-57insACCCTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCAGGG | CA2612676262 | USH1C | c.497-58_497-57insCCCTGGGGGG (n.497-58_497-57insCCCTGGGGGG) c.530-58_530-57insCCCTGGGGGG (n.530-58_530-57insCCCTGGGGGG) c.404-58_404-57insCCCTGGGGGG (n.404-58_404-57insCCCTGGGGGG) n.606-58_606-57insCCCTGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCCAGG | CA2612676277 | USH1C | c.497-58_497-57insCCTGGGGGGG (n.497-58_497-57insCCTGGGGGGG) c.530-58_530-57insCCTGGGGGGG (n.530-58_530-57insCCTGGGGGGG) c.404-58_404-57insCCTGGGGGGG (n.404-58_404-57insCCTGGGGGGG) n.606-58_606-57insCCTGGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCCGGG | CA2612676291 | USH1C | c.497-58_497-57insCCCGGGGGGG (n.497-58_497-57insCCCGGGGGGG) c.530-58_530-57insCCCGGGGGGG (n.530-58_530-57insCCCGGGGGGG) c.404-58_404-57insCCCGGGGGGG (n.404-58_404-57insCCCGGGGGGG) n.606-58_606-57insCCCGGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCCTGG | CA2612676308 | USH1C | c.497-58_497-57insCCAGGGGGGG (n.497-58_497-57insCCAGGGGGGG) c.530-58_530-57insCCAGGGGGGG (n.530-58_530-57insCCAGGGGGGG) c.404-58_404-57insCCAGGGGGGG (n.404-58_404-57insCCAGGGGGGG) n.606-58_606-57insCCAGGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCGGGA | CA2790593791 | USH1C | c.497-58_497-57insTCCCGGGGGG (n.497-58_497-57insTCCCGGGGGG) c.530-58_530-57insTCCCGGGGGG (n.530-58_530-57insTCCCGGGGGG) c.404-58_404-57insTCCCGGGGGG (n.404-58_404-57insTCCCGGGGGG) n.606-58_606-57insTCCCGGGGGG | |
11 | g.17527097_17527098insCCCCCCGGGG | CA935547271 | USH1C | c.497-58_497-57insCCCCGGGGGG (n.497-58_497-57insCCCCGGGGGG) c.530-58_530-57insCCCCGGGGGG (n.530-58_530-57insCCCCGGGGGG) c.404-58_404-57insCCCCGGGGGG (n.404-58_404-57insCCCCGGGGGG) n.606-58_606-57insCCCCGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCCGTGG | CA2612676035 | USH1C | c.497-58_497-57insCCACGGGGGG (n.497-58_497-57insCCACGGGGGG) c.530-58_530-57insCCACGGGGGG (n.530-58_530-57insCCACGGGGGG) c.404-58_404-57insCCACGGGGGG (n.404-58_404-57insCCACGGGGGG) n.606-58_606-57insCCACGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCTGGG | CA2535750592 | USH1C | c.497-58_497-57insCCCAGGGGGG (n.497-58_497-57insCCCAGGGGGG) c.530-58_530-57insCCCAGGGGGG (n.530-58_530-57insCCCAGGGGGG) c.404-58_404-57insCCCAGGGGGG (n.404-58_404-57insCCCAGGGGGG) n.606-58_606-57insCCCAGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCGGGGG | CA935547182 | USH1C | c.497-58_497-57insCCCCCGGGGG (n.497-58_497-57insCCCCCGGGGG) c.530-58_530-57insCCCCCGGGGG (n.530-58_530-57insCCCCCGGGGG) c.404-58_404-57insCCCCCGGGGG (n.404-58_404-57insCCCCCGGGGG) n.606-58_606-57insCCCCCGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCGTGGG | CA2612676011 | USH1C | c.497-58_497-57insCCCACGGGGG (n.497-58_497-57insCCCACGGGGG) c.530-58_530-57insCCCACGGGGG (n.530-58_530-57insCCCACGGGGG) c.404-58_404-57insCCCACGGGGG (n.404-58_404-57insCCCACGGGGG) n.606-58_606-57insCCCACGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTCGGG | CA2612676012 | USH1C | c.497-58_497-57insCCCGAGGGGG (n.497-58_497-57insCCCGAGGGGG) c.530-58_530-57insCCCGAGGGGG (n.530-58_530-57insCCCGAGGGGG) c.404-58_404-57insCCCGAGGGGG (n.404-58_404-57insCCCGAGGGGG) n.606-58_606-57insCCCGAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGAGG | CA2790593611 | USH1C | c.497-58_497-57insCCTCAGGGGG (n.497-58_497-57insCCTCAGGGGG) c.530-58_530-57insCCTCAGGGGG (n.530-58_530-57insCCTCAGGGGG) c.404-58_404-57insCCTCAGGGGG (n.404-58_404-57insCCTCAGGGGG) n.606-58_606-57insCCTCAGGGGG | |
11 | g.17527097_17527098insCCCCCTGGAG | CA2612676021 | USH1C | c.497-58_497-57insCTCCAGGGGG (n.497-58_497-57insCTCCAGGGGG) c.530-58_530-57insCTCCAGGGGG (n.530-58_530-57insCTCCAGGGGG) c.404-58_404-57insCTCCAGGGGG (n.404-58_404-57insCTCCAGGGGG) n.606-58_606-57insCTCCAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGGGG | CA935547193 | USH1C | c.497-58_497-57insCCCCAGGGGG (n.497-58_497-57insCCCCAGGGGG) c.530-58_530-57insCCCCAGGGGG (n.530-58_530-57insCCCCAGGGGG) c.404-58_404-57insCCCCAGGGGG (n.404-58_404-57insCCCCAGGGGG) n.606-58_606-57insCCCCAGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGTGG | CA2612676133 | USH1C | c.497-58_497-57insCCACAGGGGG (n.497-58_497-57insCCACAGGGGG) c.530-58_530-57insCCACAGGGGG (n.530-58_530-57insCCACAGGGGG) c.404-58_404-57insCCACAGGGGG (n.404-58_404-57insCCACAGGGGG) n.606-58_606-57insCCACAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTTGGG | CA2612676118 | USH1C | c.497-58_497-57insCCCAAGGGGG (n.497-58_497-57insCCCAAGGGGG) c.530-58_530-57insCCCAAGGGGG (n.530-58_530-57insCCCAAGGGGG) c.404-58_404-57insCCCAAGGGGG (n.404-58_404-57insCCCAAGGGGG) n.606-58_606-57insCCCAAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTCGGGG | CA2612676081 | USH1C | c.497-58_497-57insCCCCGAGGGG (n.497-58_497-57insCCCCGAGGGG) c.530-58_530-57insCCCCGAGGGG (n.530-58_530-57insCCCCGAGGGG) c.404-58_404-57insCCCCGAGGGG (n.404-58_404-57insCCCCGAGGGG) n.606-58_606-57insCCCCGAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTGGGGG | CA2612676069 | USH1C | c.497-58_497-57insCCCCCAGGGG (n.497-58_497-57insCCCCCAGGGG) c.530-58_530-57insCCCCCAGGGG (n.530-58_530-57insCCCCCAGGGG) c.404-58_404-57insCCCCCAGGGG (n.404-58_404-57insCCCCCAGGGG) n.606-58_606-57insCCCCCAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTTGGGG | CA2566068157 | USH1C | c.497-58_497-57insCCCCAAGGGG (n.497-58_497-57insCCCCAAGGGG) c.530-58_530-57insCCCCAAGGGG (n.530-58_530-57insCCCCAAGGGG) c.404-58_404-57insCCCCAAGGGG (n.404-58_404-57insCCCCAAGGGG) n.606-58_606-57insCCCCAAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAGGGGG | CA2612676391 | USH1C | c.497-58_497-57insCCCCCTGGGGG (n.497-58_497-57insCCCCCTGGGGG) c.530-58_530-57insCCCCCTGGGGG (n.530-58_530-57insCCCCCTGGGGG) c.404-58_404-57insCCCCCTGGGGG (n.404-58_404-57insCCCCCTGGGGG) n.606-58_606-57insCCCCCTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAGGGGT | CA2612676398 | USH1C | c.497-58_497-57insACCCCTGGGGG (n.497-58_497-57insACCCCTGGGGG) c.530-58_530-57insACCCCTGGGGG (n.530-58_530-57insACCCCTGGGGG) c.404-58_404-57insACCCCTGGGGG (n.404-58_404-57insACCCCTGGGGG) n.606-58_606-57insACCCCTGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCATGGGG | CA2790593829 | USH1C | c.497-58_497-57insCCCCATGGGGG (n.497-58_497-57insCCCCATGGGGG) c.530-58_530-57insCCCCATGGGGG (n.530-58_530-57insCCCCATGGGGG) c.404-58_404-57insCCCCATGGGGG (n.404-58_404-57insCCCCATGGGGG) n.606-58_606-57insCCCCATGGGGG | |
11 | g.17527097_17527098insCCCCCCAGGGG | CA2612676265 | USH1C | c.497-58_497-57insCCCCTGGGGGG (n.497-58_497-57insCCCCTGGGGGG) c.530-58_530-57insCCCCTGGGGGG (n.530-58_530-57insCCCCTGGGGGG) c.404-58_404-57insCCCCTGGGGGG (n.404-58_404-57insCCCCTGGGGGG) n.606-58_606-57insCCCCTGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCCGGGG | CA2790593803 | USH1C | c.497-58_497-57insCCCCGGGGGGG (n.497-58_497-57insCCCCGGGGGGG) c.530-58_530-57insCCCCGGGGGGG (n.530-58_530-57insCCCCGGGGGGG) c.404-58_404-57insCCCCGGGGGGG (n.404-58_404-57insCCCCGGGGGGG) n.606-58_606-57insCCCCGGGGGGG | |
11 | g.17527097_17527098insCCCCCCCTGGG | CA2612676314 | USH1C | c.497-58_497-57insCCCAGGGGGGG (n.497-58_497-57insCCCAGGGGGGG) c.530-58_530-57insCCCAGGGGGGG (n.530-58_530-57insCCCAGGGGGGG) c.404-58_404-57insCCCAGGGGGGG (n.404-58_404-57insCCCAGGGGGGG) n.606-58_606-57insCCCAGGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCGGGGG | CA935547270 | USH1C | c.497-58_497-57insCCCCCGGGGGG (n.497-58_497-57insCCCCCGGGGGG) c.530-58_530-57insCCCCCGGGGGG (n.530-58_530-57insCCCCCGGGGGG) c.404-58_404-57insCCCCCGGGGGG (n.404-58_404-57insCCCCCGGGGGG) n.606-58_606-57insCCCCCGGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCCTGGGG | CA2612676046 | USH1C | c.497-58_497-57insCCCCAGGGGGG (n.497-58_497-57insCCCCAGGGGGG) c.530-58_530-57insCCCCAGGGGGG (n.530-58_530-57insCCCCAGGGGGG) c.404-58_404-57insCCCCAGGGGGG (n.404-58_404-57insCCCCAGGGGGG) n.606-58_606-57insCCCCAGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCGAGGGG | CA2612676053 | USH1C | c.497-58_497-57insCCCCTCGGGGG (n.497-58_497-57insCCCCTCGGGGG) c.530-58_530-57insCCCCTCGGGGG (n.530-58_530-57insCCCCTCGGGGG) c.404-58_404-57insCCCCTCGGGGG (n.404-58_404-57insCCCCTCGGGGG) n.606-58_606-57insCCCCTCGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCGGGGGG | CA2612675999 | USH1C | c.497-58_497-57insCCCCCCGGGGG (n.497-58_497-57insCCCCCCGGGGG) c.530-58_530-57insCCCCCCGGGGG (n.530-58_530-57insCCCCCCGGGGG) c.404-58_404-57insCCCCCCGGGGG (n.404-58_404-57insCCCCCCGGGGG) n.606-58_606-57insCCCCCCGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGGGGA | CA2612676024 | USH1C | c.497-58_497-57insTCCCCAGGGGG (n.497-58_497-57insTCCCCAGGGGG) c.530-58_530-57insTCCCCAGGGGG (n.530-58_530-57insTCCCCAGGGGG) c.404-58_404-57insTCCCCAGGGGG (n.404-58_404-57insTCCCCAGGGGG) n.606-58_606-57insTCCCCAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGGGGG | CA935547194 | USH1C | c.497-58_497-57insCCCCCAGGGGG (n.497-58_497-57insCCCCCAGGGGG) c.530-58_530-57insCCCCCAGGGGG (n.530-58_530-57insCCCCCAGGGGG) c.404-58_404-57insCCCCCAGGGGG (n.404-58_404-57insCCCCCAGGGGG) n.606-58_606-57insCCCCCAGGGGG | gnomAD v3 gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGTGGG | CA2612676127 | USH1C | c.497-58_497-57insCCCACAGGGGG (n.497-58_497-57insCCCACAGGGGG) c.530-58_530-57insCCCACAGGGGG (n.530-58_530-57insCCCACAGGGGG) c.404-58_404-57insCCCACAGGGGG (n.404-58_404-57insCCCACAGGGGG) n.606-58_606-57insCCCACAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTCGGGGG | CA2612676066 | USH1C | c.497-58_497-57insCCCCCGAGGGG (n.497-58_497-57insCCCCCGAGGGG) c.530-58_530-57insCCCCCGAGGGG (n.530-58_530-57insCCCCCGAGGGG) c.404-58_404-57insCCCCCGAGGGG (n.404-58_404-57insCCCCCGAGGGG) n.606-58_606-57insCCCCCGAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTTGGGGG | CA2612676064 | USH1C | c.497-58_497-57insCCCCCAAGGGG (n.497-58_497-57insCCCCCAAGGGG) c.530-58_530-57insCCCCCAAGGGG (n.530-58_530-57insCCCCCAAGGGG) c.404-58_404-57insCCCCCAAGGGG (n.404-58_404-57insCCCCCAAGGGG) n.606-58_606-57insCCCCCAAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCTTTGGGG | CA2612676085 | USH1C | c.497-58_497-57insCCCCAAAGGGG (n.497-58_497-57insCCCCAAAGGGG) c.530-58_530-57insCCCCAAAGGGG (n.530-58_530-57insCCCCAAAGGGG) c.404-58_404-57insCCCCAAAGGGG (n.404-58_404-57insCCCCAAAGGGG) n.606-58_606-57insCCCCAAAGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCAGGGGGG | CA2790593844 | USH1C | c.497-58_497-57insCCCCCCTGGGGG (n.497-58_497-57insCCCCCCTGGGGG) c.530-58_530-57insCCCCCCTGGGGG (n.530-58_530-57insCCCCCCTGGGGG) c.404-58_404-57insCCCCCCTGGGGG (n.404-58_404-57insCCCCCCTGGGGG) n.606-58_606-57insCCCCCCTGGGGG | |
11 | g.17527097_17527098insCCCCCTGAGGAA | CA2612676014 | USH1C | c.497-58_497-57insTTCCTCAGGGGG (n.497-58_497-57insTTCCTCAGGGGG) c.530-58_530-57insTTCCTCAGGGGG (n.530-58_530-57insTTCCTCAGGGGG) c.404-58_404-57insTTCCTCAGGGGG (n.404-58_404-57insTTCCTCAGGGGG) n.606-58_606-57insTTCCTCAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGGGGGA | CA2612676095 | USH1C | c.497-58_497-57insTCCCCCAGGGGG (n.497-58_497-57insTCCCCCAGGGGG) c.530-58_530-57insTCCCCCAGGGGG (n.530-58_530-57insTCCCCCAGGGGG) c.404-58_404-57insTCCCCCAGGGGG (n.404-58_404-57insTCCCCCAGGGGG) n.606-58_606-57insTCCCCCAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGGGGGG | CA2612676137 | USH1C | c.497-58_497-57insCCCCCCAGGGGG (n.497-58_497-57insCCCCCCAGGGGG) c.530-58_530-57insCCCCCCAGGGGG (n.530-58_530-57insCCCCCCAGGGGG) c.404-58_404-57insCCCCCCAGGGGG (n.404-58_404-57insCCCCCCAGGGGG) n.606-58_606-57insCCCCCCAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCCCAGGGGG | CA2612676280 | USH1C | c.497-58_497-57insCCCCCTGGGGGGG (n.497-58_497-57insCCCCCTGGGGGGG) c.530-58_530-57insCCCCCTGGGGGGG (n.530-58_530-57insCCCCCTGGGGGGG) c.404-58_404-57insCCCCCTGGGGGGG (n.404-58_404-57insCCCCCTGGGGGGG) n.606-58_606-57insCCCCCTGGGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCGGGGGGGA | CA2612676002 | USH1C | c.497-58_497-57insTCCCCCCCGGGGG (n.497-58_497-57insTCCCCCCCGGGGG) c.530-58_530-57insTCCCCCCCGGGGG (n.530-58_530-57insTCCCCCCCGGGGG) c.404-58_404-57insTCCCCCCCGGGGG (n.404-58_404-57insTCCCCCCCGGGGG) n.606-58_606-57insTCCCCCCCGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGGGGGAA | CA2612676148 | USH1C | c.497-58_497-57insTTCCCCCAGGGGG (n.497-58_497-57insTTCCCCCAGGGGG) c.530-58_530-57insTTCCCCCAGGGGG (n.530-58_530-57insTTCCCCCAGGGGG) c.404-58_404-57insTTCCCCCAGGGGG (n.404-58_404-57insTTCCCCCAGGGGG) n.606-58_606-57insTTCCCCCAGGGGG | gnomAD v4 |
11 | g.17527097_17527098insCCCCCTGGGGGGA | CA2790593620 | USH1C | c.497-58_497-57insTCCCCCCAGGGGG (n.497-58_497-57insTCCCCCCAGGGGG) c.530-58_530-57insTCCCCCCAGGGGG (n.530-58_530-57insTCCCCCCAGGGGG) c.404-58_404-57insTCCCCCCAGGGGG (n.404-58_404-57insTCCCCCCAGGGGG) n.606-58_606-57insTCCCCCCAGGGGG | |
11 | g.17527097_17527098insCCCCCTGGGGGAGT | CA2612676144 | USH1C | c.497-58_497-57insACTCCCCCAGGGGG (n.497-58_497-57insACTCCCCCAGGGGG) c.530-58_530-57insACTCCCCCAGGGGG (n.530-58_530-57insACTCCCCCAGGGGG) c.404-58_404-57insACTCCCCCAGGGGG (n.404-58_404-57insACTCCCCCAGGGGG) n.606-58_606-57insACTCCCCCAGGGGG | gnomAD v4 |
11 | g.17527098G>A | CA218461475 | USH1C | c.497-58C>T (n.497-58C>T) c.530-58C>T (n.530-58C>T) c.404-58C>T (n.404-58C>T) n.606-58C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527098G>C | CA597668820 | USH1C | c.497-58C>G (n.497-58C>G) c.530-58C>G (n.530-58C>G) c.404-58C>G (n.404-58C>G) n.606-58C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527098G= | CA1955186934 | USH1C | c.497-58C= (n.497-58C=) c.530-58C= (n.530-58C=) c.404-58C= (n.404-58C=) n.606-58C= | |
11 | g.17527098G>T | CA2612676091 | USH1C | c.497-58C>A (n.497-58C>A) c.530-58C>A (n.530-58C>A) c.404-58C>A (n.404-58C>A) n.606-58C>A | gnomAD v4 |
11 | g.17527098_17527099del | CA935547199 | USH1C | c.497-59_497-58del (n.497-59_497-58del) c.530-59_530-58del (n.530-59_530-58del) c.404-59_404-58del (n.404-59_404-58del) n.606-59_606-58del | gnomAD v3 gnomAD v4 |
11 | g.17527098_17527104del | CA2790593664 | USH1C | c.497-64_497-58del (n.497-64_497-58del) c.530-64_530-58del (n.530-64_530-58del) c.404-64_404-58del (n.404-64_404-58del) n.606-64_606-58del | |
11 | g.17527098_17527112del | CA597668823 | USH1C | c.497-72_497-58del (n.497-72_497-58del) c.530-72_530-58del (n.530-72_530-58del) c.404-72_404-58del (n.404-72_404-58del) n.606-72_606-58del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527098_17527118del | CA597668827 | USH1C | c.497-78_497-58del (n.497-78_497-58del) c.530-78_530-58del (n.530-78_530-58del) c.404-78_404-58del (n.404-78_404-58del) n.606-78_606-58del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17527098_17527099insGGGAA | CA2612676456 | USH1C | c.497-59_497-58insTTCCC (n.497-59_497-58insTTCCC) c.530-59_530-58insTTCCC (n.530-59_530-58insTTCCC) c.404-59_404-58insTTCCC (n.404-59_404-58insTTCCC) n.606-59_606-58insTTCCC | gnomAD v4 |
11 | g.17527099T>A | CA2612676461 | USH1C | c.497-59A>T (n.497-59A>T) c.530-59A>T (n.530-59A>T) c.404-59A>T (n.404-59A>T) n.606-59A>T | gnomAD v4 |
11 | g.17527099T>C | CA597668828 | USH1C | c.497-59A>G (n.497-59A>G) c.530-59A>G (n.530-59A>G) c.404-59A>G (n.404-59A>G) n.606-59A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17527099T>G | CA935547294 | USH1C | c.497-59A>C (n.497-59A>C) c.530-59A>C (n.530-59A>C) c.404-59A>C (n.404-59A>C) n.606-59A>C | gnomAD v3 gnomAD v4 |
11 | g.17527099T= | CA1955186935 | USH1C | c.497-59A= (n.497-59A=) c.530-59A= (n.530-59A=) c.404-59A= (n.404-59A=) n.606-59A= | |
11 | g.17527099_17527100insAT | CA2790593883 | USH1C | c.497-59_497-58insTA (n.497-59_497-58insTA) c.530-59_530-58insTA (n.530-59_530-58insTA) c.404-59_404-58insTA (n.404-59_404-58insTA) n.606-59_606-58insTA | |
11 | g.17527099_17527118del | CA2612676464 | USH1C | c.497-78_497-59del (n.497-78_497-59del) c.530-78_530-59del (n.530-78_530-59del) c.404-78_404-59del (n.404-78_404-59del) n.606-78_606-59del | gnomAD v4 |
11 | g.17527100del | CA2790593887 | USH1C | c.497-60del (n.497-60del) c.530-60del (n.530-60del) c.404-60del (n.404-60del) n.606-60del | |
11 | g.17527100C>A | CA1955186937 | USH1C | c.497-60G>T (n.497-60G>T) c.530-60G>T (n.530-60G>T) c.404-60G>T (n.404-60G>T) n.606-60G>T | dbSNP |
11 | g.17527100C= | CA1955186936 | USH1C | c.497-60G= (n.497-60G=) c.530-60G= (n.530-60G=) c.404-60G= (n.404-60G=) n.606-60G= | |
11 | g.17527100C>G | CA2790593890 | USH1C | c.497-60G>C (n.497-60G>C) c.530-60G>C (n.530-60G>C) c.404-60G>C (n.404-60G>C) n.606-60G>C | |
11 | g.17527100_17527104del | CA2790593889 | USH1C | c.497-64_497-60del (n.497-64_497-60del) c.530-64_530-60del (n.530-64_530-60del) c.404-64_404-60del (n.404-64_404-60del) n.606-64_606-60del | |
11 | g.17527100_17527101insCCCCCGGGGG | CA2612676512 | USH1C | c.497-61_497-60insCCCCCGGGGG (n.497-61_497-60insCCCCCGGGGG) c.530-61_530-60insCCCCCGGGGG (n.530-61_530-60insCCCCCGGGGG) c.404-61_404-60insCCCCCGGGGG (n.404-61_404-60insCCCCCGGGGG) n.606-61_606-60insCCCCCGGGGG | gnomAD v4 |
11 | g.17527100_17527101insCCCCGGGGGG | CA2612676513 | USH1C | c.497-61_497-60insCCCCCCGGGG (n.497-61_497-60insCCCCCCGGGG) c.530-61_530-60insCCCCCCGGGG (n.530-61_530-60insCCCCCCGGGG) c.404-61_404-60insCCCCCCGGGG (n.404-61_404-60insCCCCCCGGGG) n.606-61_606-60insCCCCCCGGGG | gnomAD v4 |
11 | g.17527100_17527101insCCCCTGGGGG | CA2612676515 | USH1C | c.497-61_497-60insCCCCCAGGGG (n.497-61_497-60insCCCCCAGGGG) c.530-61_530-60insCCCCCAGGGG (n.530-61_530-60insCCCCCAGGGG) c.404-61_404-60insCCCCCAGGGG (n.404-61_404-60insCCCCCAGGGG) n.606-61_606-60insCCCCCAGGGG | gnomAD v4 |
11 | g.17527100_17527101insCCCTTGGGGG | CA2612676519 | USH1C | c.497-61_497-60insCCCCCAAGGG (n.497-61_497-60insCCCCCAAGGG) c.530-61_530-60insCCCCCAAGGG (n.530-61_530-60insCCCCCAAGGG) c.404-61_404-60insCCCCCAAGGG (n.404-61_404-60insCCCCCAAGGG) n.606-61_606-60insCCCCCAAGGG | gnomAD v4 |
11 | g.17527100_17527101insCCCCTGGGGGA | CA2612676517 | USH1C | c.497-61_497-60insTCCCCCAGGGG (n.497-61_497-60insTCCCCCAGGGG) c.530-61_530-60insTCCCCCAGGGG (n.530-61_530-60insTCCCCCAGGGG) c.404-61_404-60insTCCCCCAGGGG (n.404-61_404-60insTCCCCCAGGGG) n.606-61_606-60insTCCCCCAGGGG | gnomAD v4 |
11 | g.17527100_17527101insCCCCTGGGGGG | CA2612676518 | USH1C | c.497-61_497-60insCCCCCCAGGGG (n.497-61_497-60insCCCCCCAGGGG) c.530-61_530-60insCCCCCCAGGGG (n.530-61_530-60insCCCCCCAGGGG) c.404-61_404-60insCCCCCCAGGGG (n.404-61_404-60insCCCCCCAGGGG) n.606-61_606-60insCCCCCCAGGGG | gnomAD v4 |
11 | g.17527101A= | CA1955186938 | USH1C | c.497-61T= (n.497-61T=) c.530-61T= (n.530-61T=) c.404-61T= (n.404-61T=) n.606-61T= | |
11 | g.17527101A>C | CA935547296 | USH1C | c.497-61T>G (n.497-61T>G) c.530-61T>G (n.530-61T>G) c.404-61T>G (n.404-61T>G) n.606-61T>G | gnomAD v3 gnomAD v4 |
11 | g.17527101A>T | CA1955186939 | USH1C | c.497-61T>A (n.497-61T>A) c.530-61T>A (n.530-61T>A) c.404-61T>A (n.404-61T>A) n.606-61T>A | dbSNP gnomAD v4 |
11 | g.17527101_17527102insAG | CA2790593903 | USH1C | c.497-62_497-61insCT (n.497-62_497-61insCT) c.530-62_530-61insCT (n.530-62_530-61insCT) c.404-62_404-61insCT (n.404-62_404-61insCT) n.606-62_606-61insCT | |
11 | g.17527101_17527102insACAT | CA2790593904 | USH1C | c.497-62_497-61insATGT (n.497-62_497-61insATGT) c.530-62_530-61insATGT (n.530-62_530-61insATGT) c.404-62_404-61insATGT (n.404-62_404-61insATGT) n.606-62_606-61insATGT | |
11 | g.17527102T>A | CA2612676527 | USH1C | c.497-62A>T (n.497-62A>T) c.530-62A>T (n.530-62A>T) c.404-62A>T (n.404-62A>T) n.606-62A>T | gnomAD v4 |
11 | g.17527102T>C | CA2790593899 | USH1C | c.497-62A>G (n.497-62A>G) c.530-62A>G (n.530-62A>G) c.404-62A>G (n.404-62A>G) n.606-62A>G | |
11 | g.17527102T>G | CA2612676524 | USH1C | c.497-62A>C (n.497-62A>C) c.530-62A>C (n.530-62A>C) c.404-62A>C (n.404-62A>C) n.606-62A>C | gnomAD v4 |
11 | g.17527102_17527103del | CA2612676523 | USH1C | c.497-63_497-62del (n.497-63_497-62del) c.530-63_530-62del (n.530-63_530-62del) c.404-63_404-62del (n.404-63_404-62del) n.606-63_606-62del | gnomAD v4 |
11 | g.17527103_17527107del | CA2790593901 | USH1C | c.497-66_497-62del (n.497-66_497-62del) c.530-66_530-62del (n.530-66_530-62del) c.404-66_404-62del (n.404-66_404-62del) n.606-66_606-62del | |
11 | g.17527103_17527144del | CA2612676525 | USH1C | c.496+80_497-62del (n.496+80_497-62del) c.529+80_530-62del (n.529+80_530-62del) c.403+80_404-62del (n.403+80_404-62del) n.605+80_606-62del | dbSNP gnomAD v4 |
11 | g.17527103G>A | CA2574769494 | USH1C | c.497-63C>T (n.497-63C>T) c.530-63C>T (n.530-63C>T) c.404-63C>T (n.404-63C>T) n.606-63C>T | |
11 | g.17527103G>T | CA2612676529 | USH1C | c.497-63C>A (n.497-63C>A) c.530-63C>A (n.530-63C>A) c.404-63C>A (n.404-63C>A) n.606-63C>A | gnomAD v4 |
11 | g.17527104del | CA2790593907 | USH1C | c.497-63del (n.497-63del) c.530-63del (n.530-63del) c.404-63del (n.404-63del) n.606-63del | |
11 | g.17527104_17527106del | CA2574769492 | USH1C | c.497-65_497-63del (n.497-65_497-63del) c.530-65_530-63del (n.530-65_530-63del) c.404-65_404-63del (n.404-65_404-63del) n.606-65_606-63del | |
11 | g.17527103_17527104insA | CA2790593917 | USH1C | c.497-64_497-63insT (n.497-64_497-63insT) c.530-64_530-63insT (n.530-64_530-63insT) c.404-64_404-63insT (n.404-64_404-63insT) n.606-64_606-63insT | |
11 | g.17527103_17527104insACA | CA2790593915 | USH1C | c.497-64_497-63insTGT (n.497-64_497-63insTGT) c.530-64_530-63insTGT (n.530-64_530-63insTGT) c.404-64_404-63insTGT (n.404-64_404-63insTGT) n.606-64_606-63insTGT | |
11 | g.17527103_17527104insACAC | CA2790593914 | USH1C | c.497-64_497-63insGTGT (n.497-64_497-63insGTGT) c.530-64_530-63insGTGT (n.530-64_530-63insGTGT) c.404-64_404-63insGTGT (n.404-64_404-63insGTGT) n.606-64_606-63insGTGT | |
11 | g.17527104G>A | CA2612676532 | USH1C | c.497-64C>T (n.497-64C>T) c.530-64C>T (n.530-64C>T) c.404-64C>T (n.404-64C>T) n.606-64C>T | gnomAD v4 |
11 | g.17527104G>C | CA674239486 | USH1C | c.497-64C>G (n.497-64C>G) c.530-64C>G (n.530-64C>G) c.404-64C>G (n.404-64C>G) n.606-64C>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17527104G= | CA1955186940 | USH1C | c.497-64C= (n.497-64C=) c.530-64C= (n.530-64C=) c.404-64C= (n.404-64C=) n.606-64C= | |
11 | g.17527104_17527107del | CA2790593912 | USH1C | c.497-67_497-64del (n.497-67_497-64del) c.530-67_530-64del (n.530-67_530-64del) c.404-67_404-64del (n.404-67_404-64del) n.606-67_606-64del |