| 1 | g.216246598A= | CA1143673812 | USH2A | c.2796T= (p.Asn932=)
| |
| 1 | g.216246598A>C | CA344864018 | USH2A | c.2796T>G (p.Asn932Lys)
| |
| 1 | g.216246598A>G | CA423322182 | USH2A | c.2796T>C (p.Asn932=)
| ClinVar dbSNP |
| 1 | g.216246598A>T | CA1396165 | USH2A | c.2796T>A (p.Asn932Lys)
| dbSNP ExAC gnomAD v2 |
| 1 | g.216246599T>A | CA344864019 | USH2A | c.2795A>T (p.Asn932Ile)
| |
| 1 | g.216246599T>C | CA344864020 | USH2A | c.2795A>G (p.Asn932Ser)
| |
| 1 | g.216246599T>G | CA344864021 | USH2A | c.2795A>C (p.Asn932Thr)
| |
| 1 | g.216246600T>A | CA344864022 | USH2A | c.2794A>T (p.Asn932Tyr)
| |
| 1 | g.216246600T>C | CA344864023 | USH2A | c.2794A>G (p.Asn932Asp)
| |
| 1 | g.216246600T>G | CA344864024 | USH2A | c.2794A>C (p.Asn932His)
| |
| 1 | g.216246601A= | CA1220619055 | USH2A | c.2793T= (p.Cys931=)
| |
| 1 | g.216246601A>C | CA344864025 | USH2A | c.2793T>G (p.Cys931Trp)
| |
| 1 | g.216246601A>G | CA423322183 | USH2A | c.2793T>C (p.Cys931=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.216246601A>T | CA344864026 | USH2A | c.2793T>A (p.Cys931Ter)
| |
| 1 | g.216246602C>A | CA344864027 | USH2A | c.2792G>T (p.Cys931Phe)
| |
| 1 | g.216246602C= | CA1142050579 | USH2A | c.2792G= (p.Cys931=)
| |
| 1 | g.216246602C>G | CA344864028 | USH2A | c.2792G>C (p.Cys931Ser)
| |
| 1 | g.216246602C>T | CA1396166 | USH2A | c.2792G>A (p.Cys931Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246603A= | CA1147569513 | USH2A | c.2791T= (p.Cys931=)
| |
| 1 | g.216246603A>C | CA344864029 | USH2A | c.2791T>G (p.Cys931Gly)
| |
| 1 | g.216246603A>G | CA344864030 | USH2A | c.2791T>C (p.Cys931Arg)
| |
| 1 | g.216246603A>T | CA37500986 | USH2A | c.2791T>A (p.Cys931Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246604C>A | CA344864031 | USH2A | c.2790G>T (p.Arg930Ser)
| ClinVar gnomAD v4 |
| 1 | g.216246604C= | CA1145181366 | USH2A | c.2790G= (p.Arg930=)
| |
| 1 | g.216246604C>G | CA344864032 | USH2A | c.2790G>C (p.Arg930Ser)
| |
| 1 | g.216246604C>T | CA37500990 | USH2A | c.2790G>A (p.Arg930=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246605C>A | CA344864033 | USH2A | c.2789G>T (p.Arg930Met)
| |
| 1 | g.216246605C>G | CA344864034 | USH2A | c.2789G>C (p.Arg930Thr)
| gnomAD v4 |
| 1 | g.216246605C>T | CA344864035 | USH2A | c.2789G>A (p.Arg930Lys)
| gnomAD v4 |
| 1 | g.216246606T>A | CA344864037 | USH2A | c.2788A>T (p.Arg930Trp)
| ClinVar |
| 1 | g.216246606T>C | CA344864036 | USH2A | c.2788A>G (p.Arg930Gly)
| |
| 1 | g.216246606T>G | CA423322184 | USH2A | c.2788A>C (p.Arg930=)
| |
| 1 | g.216246607T>A | CA344864038 | USH2A | c.2787A>T (p.Arg929Ser)
| |
| 1 | g.216246607T>C | CA1396167 | USH2A | c.2787A>G (p.Arg929=)
| dbSNP ExAC gnomAD v2 |
| 1 | g.216246607T>G | CA344864039 | USH2A | c.2787A>C (p.Arg929Ser)
| |
| 1 | g.216246607T= | CA1220619056 | USH2A | c.2787A= (p.Arg929=)
| |
| 1 | g.216246608C>A | CA344864040 | USH2A | c.2786G>T (p.Arg929Ile)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246608C= | CA1220619057 | USH2A | c.2786G= (p.Arg929=)
| |
| 1 | g.216246608C>G | CA344864041 | USH2A | c.2786G>C (p.Arg929Thr)
| |
| 1 | g.216246608C>T | CA37500997 | USH2A | c.2786G>A (p.Arg929Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246609T>A | CA344864042 | USH2A | c.2785A>T (p.Arg929Ter)
| |
| 1 | g.216246609T>C | CA344864043 | USH2A | c.2785A>G (p.Arg929Gly)
| gnomAD v4 |
| 1 | g.216246609T>G | CA423322185 | USH2A | c.2785A>C (p.Arg929=)
| |
| 1 | g.216246610T>A | CA423322186 | USH2A | c.2784A>T (p.Gly928=)
| |
| 1 | g.216246610T>C | CA423322187 | USH2A | c.2784A>G (p.Gly928=)
| |
| 1 | g.216246610T>G | CA423322188 | USH2A | c.2784A>C (p.Gly928=)
| |
| 1 | g.216246611C>A | CA344864044 | USH2A | c.2783G>T (p.Gly928Val)
| |
| 1 | g.216246611C>G | CA344864045 | USH2A | c.2783G>C (p.Gly928Ala)
| |
| 1 | g.216246611C>T | CA344864046 | USH2A | c.2783G>A (p.Gly928Glu)
| gnomAD v4 |
| 1 | g.216246612C>A | CA344864047 | USH2A | c.2782G>T (p.Gly928Ter)
| COSMIC COSMIC COSMIC |
| 1 | g.216246612C>G | CA344864048 | USH2A | c.2782G>C (p.Gly928Arg)
| |
| 1 | g.216246612C>T | CA344864049 | USH2A | c.2782G>A (p.Gly928Arg)
| |
| 1 | g.216246613T>A | CA344864051 | USH2A | c.2781A>T (p.Gln927His)
| |
| 1 | g.216246613T>C | CA423322189 | USH2A | c.2781A>G (p.Gln927=)
| gnomAD v4 |
| 1 | g.216246613T>G | CA344864050 | USH2A | c.2781A>C (p.Gln927His)
| |
| 1 | g.216246614T>A | CA344864052 | USH2A | c.2780A>T (p.Gln927Leu)
| |
| 1 | g.216246614T>C | CA344864053 | USH2A | c.2780A>G (p.Gln927Arg)
| |
| 1 | g.216246614T>G | CA344864054 | USH2A | c.2780A>C (p.Gln927Pro)
| gnomAD v4 |
| 1 | g.216246615G>A | CA344864055 | USH2A | c.2779C>T (p.Gln927Ter)
| ClinVar dbSNP gnomAD v2 COSMIC COSMIC COSMIC |
| 1 | g.216246615G>C | CA344864056 | USH2A | c.2779C>G (p.Gln927Glu)
| |
| 1 | g.216246615G= | CA1220619058 | USH2A | c.2779C= (p.Gln927=)
| |
| 1 | g.216246615G>T | CA344864057 | USH2A | c.2779C>A (p.Gln927Lys)
| |
| 1 | g.216246616A>C | CA423322190 | USH2A | c.2778T>G (p.Arg926=)
| |
| 1 | g.216246616A>G | CA423322191 | USH2A | c.2778T>C (p.Arg926=)
| |
| 1 | g.216246616A>T | CA423322192 | USH2A | c.2778T>A (p.Arg926=)
| |
| 1 | g.216246617C>A | CA344864058 | USH2A | c.2777G>T (p.Arg926Leu)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216246617C= | CA1142146138 | USH2A | c.2777G= (p.Arg926=)
| |
| 1 | g.216246617C>G | CA344864059 | USH2A | c.2777G>C (p.Arg926Pro)
| |
| 1 | g.216246617C>T | CA143448 | USH2A | c.2777G>A (p.Arg926His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246618G>A | CA1396169 | USH2A | c.2776C>T (p.Arg926Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246618G>C | CA344864060 | USH2A | c.2776C>G (p.Arg926Gly)
| |
| 1 | g.216246618G= | CA1149132084 | USH2A | c.2776C= (p.Arg926=)
| |
| 1 | g.216246618G>T | CA1396168 | USH2A | c.2776C>A (p.Arg926Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246619A= | CA1220619059 | USH2A | c.2775T= (p.Asn925=)
| |
| 1 | g.216246619A>C | CA344864062 | USH2A | c.2775T>G (p.Asn925Lys)
| |
| 1 | g.216246619A>G | CA1396170 | USH2A | c.2775T>C (p.Asn925=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246619A>T | CA344864061 | USH2A | c.2775T>A (p.Asn925Lys)
| |
| 1 | g.216246620T>A | CA344864063 | USH2A | c.2774A>T (p.Asn925Ile)
| |
| 1 | g.216246620T>C | CA344864064 | USH2A | c.2774A>G (p.Asn925Ser)
| |
| 1 | g.216246620T>G | CA344864065 | USH2A | c.2774A>C (p.Asn925Thr)
| |
| 1 | g.216246621T>A | CA344864066 | USH2A | c.2773A>T (p.Asn925Tyr)
| |
| 1 | g.216246621T>C | CA344864067 | USH2A | c.2773A>G (p.Asn925Asp)
| dbSNP gnomAD v2 |
| 1 | g.216246621T>G | CA344864068 | USH2A | c.2773A>C (p.Asn925His)
| gnomAD v4 |
| 1 | g.216246621T= | CA1220619060 | USH2A | c.2773A= (p.Asn925=)
| |
| 1 | g.216246622A>C | CA423322193 | USH2A | c.2772T>G (p.Pro924=)
| |
| 1 | g.216246622A>G | CA423322194 | USH2A | c.2772T>C (p.Pro924=)
| |
| 1 | g.216246622A>T | CA423322195 | USH2A | c.2772T>A (p.Pro924=)
| |
| 1 | g.216246623G>A | CA344864069 | USH2A | c.2771C>T (p.Pro924Leu)
| |
| 1 | g.216246623G>C | CA344864070 | USH2A | c.2771C>G (p.Pro924Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246623G= | CA1220619061 | USH2A | c.2771C= (p.Pro924=)
| |
| 1 | g.216246623G>T | CA344864071 | USH2A | c.2771C>A (p.Pro924His)
| |
| 1 | g.216246624G>A | CA344864072 | USH2A | c.2770C>T (p.Pro924Ser)
| |
| 1 | g.216246624G>C | CA344864073 | USH2A | c.2770C>G (p.Pro924Ala)
| |
| 1 | g.216246624G>T | CA344864074 | USH2A | c.2770C>A (p.Pro924Thr)
| |
| 1 | g.216246625C>A | CA423322197 | USH2A | c.2769G>T (p.Val923=)
| |
| 1 | g.216246625C= | CA1146493866 | USH2A | c.2769G= (p.Val923=)
| |
| 1 | g.216246625C>G | CA423322198 | USH2A | c.2769G>C (p.Val923=)
| |
| 1 | g.216246625C>T | CA1396171 | USH2A | c.2769G>A (p.Val923=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246626A>C | CA344864077 | USH2A | c.2768T>G (p.Val923Gly)
| |
| 1 | g.216246626A>G | CA344864076 | USH2A | c.2768T>C (p.Val923Ala)
| |
| 1 | g.216246626A>T | CA344864075 | USH2A | c.2768T>A (p.Val923Glu)
| |
| 1 | g.216246627C>A | CA344864078 | USH2A | c.2767G>T (p.Val923Leu)
| |
| 1 | g.216246627C>G | CA344864079 | USH2A | c.2767G>C (p.Val923Leu)
| |
| 1 | g.216246627C>T | CA344864080 | USH2A | c.2767G>A (p.Val923Met)
| gnomAD v4 |
| 1 | g.216246628A>C | CA344864081 | USH2A | c.2766T>G (p.Cys922Trp)
| |
| 1 | g.216246628A>G | CA423322211 | USH2A | c.2766T>C (p.Cys922=)
| |
| 1 | g.216246628A>T | CA344864082 | USH2A | c.2766T>A (p.Cys922Ter)
| ClinVar |
| 1 | g.216246629C>A | CA344864083 | USH2A | c.2765G>T (p.Cys922Phe)
| |
| 1 | g.216246629C>G | CA344864084 | USH2A | c.2765G>C (p.Cys922Ser)
| |
| 1 | g.216246629C>T | CA344864085 | USH2A | c.2765G>A (p.Cys922Tyr)
| gnomAD v4 |
| 1 | g.216246630A>C | CA344864086 | USH2A | c.2764T>G (p.Cys922Gly)
| |
| 1 | g.216246630A>G | CA344864087 | USH2A | c.2764T>C (p.Cys922Arg)
| gnomAD v4 |
| 1 | g.216246630A>T | CA344864088 | USH2A | c.2764T>A (p.Cys922Ser)
| |
| 1 | g.216246631C>A | CA423322225 | USH2A | c.2763G>T (p.Leu921=)
| gnomAD v4 |
| 1 | g.216246631C>G | CA423322223 | USH2A | c.2763G>C (p.Leu921=)
| |
| 1 | g.216246631C>T | CA423322221 | USH2A | c.2763G>A (p.Leu921=)
| dbSNP gnomAD v4 |
| 1 | g.216246632A>C | CA344864089 | USH2A | c.2762T>G (p.Leu921Arg)
| |
| 1 | g.216246632A>G | CA344864090 | USH2A | c.2762T>C (p.Leu921Pro)
| |
| 1 | g.216246632A>T | CA344864091 | USH2A | c.2762T>A (p.Leu921Gln)
| |
| 1 | g.216246632_216246633delinsAG | CA1220619062 | USH2A | c.2761_2762delinsCT (p.Leu921=)
| |
| 1 | g.216246633G>A | CA1396172 | USH2A | c.2761C>T (p.Leu921=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246633G>C | CA344864092 | USH2A | c.2761C>G (p.Leu921Val)
| gnomAD v4 |
| 1 | g.216246633G= | CA1220619063 | USH2A | c.2761C= (p.Leu921=)
| |
| 1 | g.216246633G>T | CA1396173 | USH2A | c.2761C>A (p.Leu921Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246634del | CA916082142 | USH2A | c.2761del (p.Leu921CysfsTer?)
| ClinVar dbSNP |
| 1 | g.216246634G>A | CA37501032 | USH2A | c.2760C>T (p.Cys920=)
| ClinVar dbSNP |
| 1 | g.216246634G>C | CA344864093 | USH2A | c.2760C>G (p.Cys920Trp)
| |
| 1 | g.216246634G= | CA1145655549 | USH2A | c.2760C= (p.Cys920=)
| |
| 1 | g.216246634G>T | CA344864094 | USH2A | c.2760C>A (p.Cys920Ter)
| |
| 1 | g.216246635C>A | CA344864095 | USH2A | c.2759G>T (p.Cys920Phe)
| gnomAD v4 |
| 1 | g.216246635C= | CA1220619064 | USH2A | c.2759G= (p.Cys920=)
| |
| 1 | g.216246635C>G | CA344864096 | USH2A | c.2759G>C (p.Cys920Ser)
| |
| 1 | g.216246635C>T | CA1396174 | USH2A | c.2759G>A (p.Cys920Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246636A>C | CA344864097 | USH2A | c.2758T>G (p.Cys920Gly)
| gnomAD v4 |
| 1 | g.216246636A>G | CA344864098 | USH2A | c.2758T>C (p.Cys920Arg)
| |
| 1 | g.216246636A>T | CA344864099 | USH2A | c.2758T>A (p.Cys920Ser)
| |
| 1 | g.216246637C>A | CA344864100 | USH2A | c.2757G>T (p.Gln919His)
| gnomAD v4 |
| 1 | g.216246637C>G | CA344864101 | USH2A | c.2757G>C (p.Gln919His)
| |
| 1 | g.216246637C>T | CA423322252 | USH2A | c.2757G>A (p.Gln919=)
| ClinVar |
| 1 | g.216246638T>A | CA344864102 | USH2A | c.2756A>T (p.Gln919Leu)
| |
| 1 | g.216246638T>C | CA344864103 | USH2A | c.2756A>G (p.Gln919Arg)
| |
| 1 | g.216246638T>G | CA344864104 | USH2A | c.2756A>C (p.Gln919Pro)
| |
| 1 | g.216246639G>A | CA344864105 | USH2A | c.2755C>T (p.Gln919Ter)
| |
| 1 | g.216246639G>C | CA344864106 | USH2A | c.2755C>G (p.Gln919Glu)
| |
| 1 | g.216246639G>T | CA344864107 | USH2A | c.2755C>A (p.Gln919Lys)
| |
| 1 | g.216246640G>A | CA423322263 | USH2A | c.2754C>T (p.Gly918=)
| gnomAD v4 |
| 1 | g.216246640G>C | CA423322265 | USH2A | c.2754C>G (p.Gly918=)
| |
| 1 | g.216246640G>T | CA423322266 | USH2A | c.2754C>A (p.Gly918=)
| |
| 1 | g.216246641C>A | CA344864108 | USH2A | c.2753G>T (p.Gly918Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246641C= | CA1220619065 | USH2A | c.2753G= (p.Gly918=)
| |
| 1 | g.216246641C>G | CA344864109 | USH2A | c.2753G>C (p.Gly918Ala)
| |
| 1 | g.216246641C>T | CA37501042 | USH2A | c.2753G>A (p.Gly918Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246642C>A | CA344864110 | USH2A | c.2752G>T (p.Gly918Cys)
| |
| 1 | g.216246642C= | CA1148014540 | USH2A | c.2752G= (p.Gly918=)
| |
| 1 | g.216246642C>G | CA344864111 | USH2A | c.2752G>C (p.Gly918Arg)
| COSMIC |
| 1 | g.216246642C>T | CA1396175 | USH2A | c.2752G>A (p.Gly918Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246643A>C | CA344864112 | USH2A | c.2751T>G (p.Ser917Arg)
| |
| 1 | g.216246643A>G | CA423322278 | USH2A | c.2751T>C (p.Ser917=)
| |
| 1 | g.216246643A>T | CA344864113 | USH2A | c.2751T>A (p.Ser917Arg)
| |
| 1 | g.216246644C>A | CA344864114 | USH2A | c.2750G>T (p.Ser917Ile)
| |
| 1 | g.216246644C= | CA1220619066 | USH2A | c.2750G= (p.Ser917=)
| |
| 1 | g.216246644C>G | CA344864115 | USH2A | c.2750G>C (p.Ser917Thr)
| |
| 1 | g.216246644C>T | CA1396176 | USH2A | c.2750G>A (p.Ser917Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246645T>A | CA344864116 | USH2A | c.2749A>T (p.Ser917Cys)
| |
| 1 | g.216246645T>C | CA1396177 | USH2A | c.2749A>G (p.Ser917Gly)
| dbSNP ExAC gnomAD v2 |
| 1 | g.216246645T>G | CA344864117 | USH2A | c.2749A>C (p.Ser917Arg)
| gnomAD v4 |
| 1 | g.216246645T= | CA1220619067 | USH2A | c.2749A= (p.Ser917=)
| |
| 1 | g.216246646G>A | CA423322291 | USH2A | c.2748C>T (p.Ile916=)
| |
| 1 | g.216246646G>C | CA344864118 | USH2A | c.2748C>G (p.Ile916Met)
| |
| 1 | g.216246646G>T | CA423322293 | USH2A | c.2748C>A (p.Ile916=)
| COSMIC COSMIC COSMIC |
| 1 | g.216246647A= | CA1220619068 | USH2A | c.2747T= (p.Ile916=)
| |
| 1 | g.216246647A>C | CA344864121 | USH2A | c.2747T>G (p.Ile916Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246647A>G | CA344864119 | USH2A | c.2747T>C (p.Ile916Thr)
| dbSNP gnomAD v4 |
| 1 | g.216246647A>T | CA344864120 | USH2A | c.2747T>A (p.Ile916Asn)
| |
| 1 | g.216246648T>A | CA344864122 | USH2A | c.2746A>T (p.Ile916Phe)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216246648T>C | CA1396178 | USH2A | c.2746A>G (p.Ile916Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246648T>G | CA344864123 | USH2A | c.2746A>C (p.Ile916Leu)
| |
| 1 | g.216246648T= | CA1143932762 | USH2A | c.2746A= (p.Ile916=)
| |
| 1 | g.216246649T>A | CA423322306 | USH2A | c.2745A>T (p.Pro915=)
| |
| 1 | g.216246649T>C | CA423322307 | USH2A | c.2745A>G (p.Pro915=)
| |
| 1 | g.216246649T>G | CA423322309 | USH2A | c.2745A>C (p.Pro915=)
| ClinVar dbSNP |
| 1 | g.216246650G>A | CA344864124 | USH2A | c.2744C>T (p.Pro915Leu)
| dbSNP gnomAD v4 |
| 1 | g.216246650G>C | CA344864125 | USH2A | c.2744C>G (p.Pro915Arg)
| |
| 1 | g.216246650G= | CA1220619069 | USH2A | c.2744C= (p.Pro915=)
| |
| 1 | g.216246650G>T | CA344864126 | USH2A | c.2744C>A (p.Pro915Gln)
| |
| 1 | g.216246651G>A | CA344864129 | USH2A | c.2743C>T (p.Pro915Ser)
| |
| 1 | g.216246651G>C | CA344864127 | USH2A | c.2743C>G (p.Pro915Ala)
| |
| 1 | g.216246651G= | CA1220619070 | USH2A | c.2743C= (p.Pro915=)
| |
| 1 | g.216246651G>T | CA344864128 | USH2A | c.2743C>A (p.Pro915Thr)
| dbSNP gnomAD v4 |
| 1 | g.216246652G>A | CA423322322 | USH2A | c.2742C>T (p.Asp914=)
| |
| 1 | g.216246652G>C | CA344864130 | USH2A | c.2742C>G (p.Asp914Glu)
| |
| 1 | g.216246652G>T | CA344864131 | USH2A | c.2742C>A (p.Asp914Glu)
| |
| 1 | g.216246653T>A | CA344864132 | USH2A | c.2741A>T (p.Asp914Val)
| |
| 1 | g.216246653T>C | CA344864133 | USH2A | c.2741A>G (p.Asp914Gly)
| |
| 1 | g.216246653T>G | CA344864134 | USH2A | c.2741A>C (p.Asp914Ala)
| |
| 1 | g.216246654C>A | CA344864137 | USH2A | c.2740G>T (p.Asp914Tyr)
| |
| 1 | g.216246654C>G | CA344864135 | USH2A | c.2740G>C (p.Asp914His)
| |
| 1 | g.216246654C>T | CA344864136 | USH2A | c.2740G>A (p.Asp914Asn)
| |
| 1 | g.216246655A>C | CA344864138 | USH2A | c.2739T>G (p.Cys913Trp)
| |
| 1 | g.216246655A>G | CA423322334 | USH2A | c.2739T>C (p.Cys913=)
| |
| 1 | g.216246655A>T | CA344864139 | USH2A | c.2739T>A (p.Cys913Ter)
| |
| 1 | g.216246656del | CA2573132755 | USH2A | c.2738del (p.Cys913LeufsTer?)
| ClinVar dbSNP |
| 1 | g.216246656C>A | CA344864140 | USH2A | c.2738G>T (p.Cys913Phe)
| gnomAD v4 |
| 1 | g.216246656C>G | CA344864141 | USH2A | c.2738G>C (p.Cys913Ser)
| gnomAD v4 |
| 1 | g.216246656C>T | CA344864142 | USH2A | c.2738G>A (p.Cys913Tyr)
| |
| 1 | g.216246657A= | CA1220619071 | USH2A | c.2737T= (p.Cys913=)
| |
| 1 | g.216246657A>C | CA344864143 | USH2A | c.2737T>G (p.Cys913Gly)
| |
| 1 | g.216246657A>G | CA344864144 | USH2A | c.2737T>C (p.Cys913Arg)
| |
| 1 | g.216246657A>T | CA344864145 | USH2A | c.2737T>A (p.Cys913Ser)
| dbSNP |
| 1 | g.216246658A= | CA1220619072 | USH2A | c.2736T= (p.Ile912=)
| |
| 1 | g.216246658A>C | CA344864146 | USH2A | c.2736T>G (p.Ile912Met)
| |
| 1 | g.216246658A>G | CA423322344 | USH2A | c.2736T>C (p.Ile912=)
| dbSNP |
| 1 | g.216246658A>T | CA423322346 | USH2A | c.2736T>A (p.Ile912=)
| |
| 1 | g.216246659A= | CA1220619073 | USH2A | c.2735T= (p.Ile912=)
| |
| 1 | g.216246659A>C | CA344864147 | USH2A | c.2735T>G (p.Ile912Ser)
| |
| 1 | g.216246659A>G | CA344864148 | USH2A | c.2735T>C (p.Ile912Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246659A>T | CA344864149 | USH2A | c.2735T>A (p.Ile912Asn)
| |
| 1 | g.216246660T>A | CA344864150 | USH2A | c.2734A>T (p.Ile912Phe)
| |
| 1 | g.216246660T>C | CA344864152 | USH2A | c.2734A>G (p.Ile912Val)
| gnomAD v4 |
| 1 | g.216246660T>G | CA344864151 | USH2A | c.2734A>C (p.Ile912Leu)
| |
| 1 | g.216246661G>A | CA37501048 | USH2A | c.2733C>T (p.Thr911=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246661G>C | CA423322357 | USH2A | c.2733C>G (p.Thr911=)
| |
| 1 | g.216246661G= | CA1144097668 | USH2A | c.2733C= (p.Thr911=)
| |
| 1 | g.216246661G>T | CA423322359 | USH2A | c.2733C>A (p.Thr911=)
| COSMIC |
| 1 | g.216246662del | CA2697554931 | USH2A | c.2733del (p.Ile912PhefsTer?)
| ClinVar |
| 1 | g.216246662G>A | CA344864153 | USH2A | c.2732C>T (p.Thr911Ile)
| dbSNP gnomAD v2 |
| 1 | g.216246662G>C | CA344864154 | USH2A | c.2732C>G (p.Thr911Ser)
| |
| 1 | g.216246662G= | CA1144229203 | USH2A | c.2732C= (p.Thr911=)
| |
| 1 | g.216246662G>T | CA143446 | USH2A | c.2732C>A (p.Thr911Asn)
| ClinVar dbSNP COSMIC |
| 1 | g.216246663T>A | CA344864155 | USH2A | c.2731A>T (p.Thr911Ser)
| |
| 1 | g.216246663T>C | CA344864156 | USH2A | c.2731A>G (p.Thr911Ala)
| |
| 1 | g.216246663T>G | CA344864157 | USH2A | c.2731A>C (p.Thr911Pro)
| gnomAD v4 |
| 1 | g.216246664C>A | CA423322370 | USH2A | c.2730G>T (p.Gly910=)
| |
| 1 | g.216246664C= | CA1220619074 | USH2A | c.2730G= (p.Gly910=)
| |
| 1 | g.216246664C>G | CA423322372 | USH2A | c.2730G>C (p.Gly910=)
| dbSNP |
| 1 | g.216246664C>T | CA37501060 | USH2A | c.2730G>A (p.Gly910=)
| dbSNP |
| 1 | g.216246666del | CA2573132756 | USH2A | c.2730del (p.Thr911ProfsTer?)
| ClinVar dbSNP |
| 1 | g.216246665_216246666del | CA2580062111 | USH2A | c.2729_2730del (p.Gly910AspfsTer4)
| ClinVar |
| 1 | g.216246665C>A | CA344864158 | USH2A | c.2729G>T (p.Gly910Val)
| |
| 1 | g.216246665C>G | CA344864159 | USH2A | c.2729G>C (p.Gly910Ala)
| |
| 1 | g.216246665C>T | CA344864160 | USH2A | c.2729G>A (p.Gly910Glu)
| dbSNP |
| 1 | g.216246666C>A | CA344864161 | USH2A | c.2728G>T (p.Gly910Trp)
| |
| 1 | g.216246666C>G | CA344864162 | USH2A | c.2728G>C (p.Gly910Arg)
| |
| 1 | g.216246666C>T | CA344864163 | USH2A | c.2728G>A (p.Gly910Arg)
| |
| 1 | g.216246667A>C | CA423322385 | USH2A | c.2727T>G (p.Pro909=)
| |
| 1 | g.216246667A>G | CA423322387 | USH2A | c.2727T>C (p.Pro909=)
| ClinVar |
| 1 | g.216246667A>T | CA423322389 | USH2A | c.2727T>A (p.Pro909=)
| |
| 1 | g.216246668G>A | CA344864164 | USH2A | c.2726C>T (p.Pro909Leu)
| |
| 1 | g.216246668G>C | CA344864165 | USH2A | c.2726C>G (p.Pro909Arg)
| |
| 1 | g.216246668G= | CA1220619075 | USH2A | c.2726C= (p.Pro909=)
| |
| 1 | g.216246668G>T | CA1396179 | USH2A | c.2726C>A (p.Pro909His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246669G>A | CA344864166 | USH2A | c.2725C>T (p.Pro909Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246669G>C | CA344864167 | USH2A | c.2725C>G (p.Pro909Ala)
| |
| 1 | g.216246669G= | CA1220619076 | USH2A | c.2725C= (p.Pro909=)
| |
| 1 | g.216246669G>T | CA344864168 | USH2A | c.2725C>A (p.Pro909Thr)
| |
| 1 | g.216246670T>A | CA344864169 | USH2A | c.2724A>T (p.Leu908Phe)
| |
| 1 | g.216246670T>C | CA423322402 | USH2A | c.2724A>G (p.Leu908=)
| ClinVar dbSNP |
| 1 | g.216246670T>G | CA344864170 | USH2A | c.2724A>C (p.Leu908Phe)
| |
| 1 | g.216246671A>C | CA344864171 | USH2A | c.2723T>G (p.Leu908Ter)
| |
| 1 | g.216246671A>G | CA344864172 | USH2A | c.2723T>C (p.Leu908Ser)
| ClinVar gnomAD v4 |
| 1 | g.216246671A>T | CA344864173 | USH2A | c.2723T>A (p.Leu908Ter)
| |
| 1 | g.216246672A>C | CA344864174 | USH2A | c.2722T>G (p.Leu908Val)
| |
| 1 | g.216246672A>G | CA423322410 | USH2A | c.2722T>C (p.Leu908=)
| COSMIC |
| 1 | g.216246672A>T | CA344864175 | USH2A | c.2722T>A (p.Leu908Ile)
| |
| 1 | g.216246673T>A | CA423322412 | USH2A | c.2721A>T (p.Thr907=)
| |
| 1 | g.216246673T>C | CA423322414 | USH2A | c.2721A>G (p.Thr907=)
| |
| 1 | g.216246673T>G | CA423322417 | USH2A | c.2721A>C (p.Thr907=)
| gnomAD v4 |
| 1 | g.216246673T= | CA1220619077 | USH2A | c.2721A= (p.Thr907=)
| |
| 1 | g.216246674G>A | CA37501070 | USH2A | c.2720C>T (p.Thr907Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246674G>C | CA344864177 | USH2A | c.2720C>G (p.Thr907Arg)
| |
| 1 | g.216246674G= | CA1220619078 | USH2A | c.2720C= (p.Thr907=)
| |
| 1 | g.216246674G>T | CA344864176 | USH2A | c.2720C>A (p.Thr907Lys)
| |
| 1 | g.216246674dup | CA2650512847 | USH2A | c.2720dup (p.Leu908IlefsTer7)
| gnomAD v4 |
| 1 | g.216246674_216246684dup | CA1396180 | USH2A | c.2710_2720dup (p.Leu908ProfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246675T>A | CA344864178 | USH2A | c.2719A>T (p.Thr907Ser)
| |
| 1 | g.216246675T>C | CA344864179 | USH2A | c.2719A>G (p.Thr907Ala)
| |
| 1 | g.216246675T>G | CA344864180 | USH2A | c.2719A>C (p.Thr907Pro)
| |
| 1 | g.216246676C>A | CA423322436 | USH2A | c.2718G>T (p.Gly906=)
| gnomAD v4 |
| 1 | g.216246676C= | CA1220619079 | USH2A | c.2718G= (p.Gly906=)
| |
| 1 | g.216246676C>G | CA423322432 | USH2A | c.2718G>C (p.Gly906=)
| |
| 1 | g.216246676C>T | CA1396181 | USH2A | c.2718G>A (p.Gly906=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246677C>A | CA344864181 | USH2A | c.2717G>T (p.Gly906Val)
| |
| 1 | g.216246677C= | CA1220619080 | USH2A | c.2717G= (p.Gly906=)
| |
| 1 | g.216246677C>G | CA344864182 | USH2A | c.2717G>C (p.Gly906Ala)
| |
| 1 | g.216246677C>T | CA1396182 | USH2A | c.2717G>A (p.Gly906Glu)
| dbSNP ExAC gnomAD v2 |
| 1 | g.216246678C>A | CA344864183 | USH2A | c.2716G>T (p.Gly906Trp)
| |
| 1 | g.216246678C>G | CA344864184 | USH2A | c.2716G>C (p.Gly906Arg)
| |
| 1 | g.216246678C>T | CA344864185 | USH2A | c.2716G>A (p.Gly906Arg)
| |
| 1 | g.216246679C>A | CA344864186 | USH2A | c.2715G>T (p.Leu905Phe)
| |
| 1 | g.216246679C>G | CA344864187 | USH2A | c.2715G>C (p.Leu905Phe)
| |
| 1 | g.216246679C>T | CA423322447 | USH2A | c.2715G>A (p.Leu905=)
| |
| 1 | g.216246680A>C | CA344864189 | USH2A | c.2714T>G (p.Leu905Trp)
| |
| 1 | g.216246680A>G | CA344864190 | USH2A | c.2714T>C (p.Leu905Ser)
| gnomAD v4 |
| 1 | g.216246680A>T | CA344864188 | USH2A | c.2714T>A (p.Leu905Ter)
| |
| 1 | g.216246681del | CA2573132757 | USH2A | c.2714del (p.Leu905TrpfsTer?)
| ClinVar dbSNP |
| 1 | g.216246681A= | CA1220619081 | USH2A | c.2713T= (p.Leu905=)
| |
| 1 | g.216246681A>C | CA344864191 | USH2A | c.2713T>G (p.Leu905Val)
| gnomAD v4 |
| 1 | g.216246681A>G | CA1396183 | USH2A | c.2713T>C (p.Leu905=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246681A>T | CA344864192 | USH2A | c.2713T>A (p.Leu905Met)
| |
| 1 | g.216246682G>A | CA423322460 | USH2A | c.2712C>T (p.Ser904=)
| |
| 1 | g.216246682G>C | CA423322462 | USH2A | c.2712C>G (p.Ser904=)
| |
| 1 | g.216246682G>T | CA423322464 | USH2A | c.2712C>A (p.Ser904=)
| gnomAD v4 |
| 1 | g.216246683G>A | CA344864193 | USH2A | c.2711C>T (p.Ser904Phe)
| |
| 1 | g.216246683G>C | CA344864194 | USH2A | c.2711C>G (p.Ser904Cys)
| gnomAD v4 |
| 1 | g.216246683G>T | CA344864195 | USH2A | c.2711C>A (p.Ser904Tyr)
| COSMIC COSMIC COSMIC |
| 1 | g.216246684A>C | CA344864198 | USH2A | c.2710T>G (p.Ser904Ala)
| |
| 1 | g.216246684A>G | CA344864196 | USH2A | c.2710T>C (p.Ser904Pro)
| |
| 1 | g.216246684A>T | CA344864197 | USH2A | c.2710T>A (p.Ser904Thr)
| |
| 1 | g.216246685A>C | CA344864199 | USH2A | c.2709T>G (p.Asp903Glu)
| |
| 1 | g.216246685A>G | CA423322475 | USH2A | c.2709T>C (p.Asp903=)
| |
| 1 | g.216246685A>T | CA344864200 | USH2A | c.2709T>A (p.Asp903Glu)
| |
| 1 | g.216246686T>A | CA344864201 | USH2A | c.2708A>T (p.Asp903Val)
| |
| 1 | g.216246686T>C | CA344864202 | USH2A | c.2708A>G (p.Asp903Gly)
| |
| 1 | g.216246686T>G | CA344864203 | USH2A | c.2708A>C (p.Asp903Ala)
| |
| 1 | g.216246687C>A | CA1396184 | USH2A | c.2707G>T (p.Asp903Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246687C= | CA1142445210 | USH2A | c.2707G= (p.Asp903=)
| |
| 1 | g.216246687C>G | CA344864205 | USH2A | c.2707G>C (p.Asp903His)
| gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246687C>T | CA344864204 | USH2A | c.2707G>A (p.Asp903Asn)
| COSMIC |
| 1 | g.216246688A>C | CA344864206 | USH2A | c.2706T>G (p.Cys902Trp)
| |
| 1 | g.216246688A>G | CA423322489 | USH2A | c.2706T>C (p.Cys902=)
| |
| 1 | g.216246688A>T | CA344864207 | USH2A | c.2706T>A (p.Cys902Ter)
| |
| 1 | g.216246689C>A | CA344864208 | USH2A | c.2705G>T (p.Cys902Phe)
| |
| 1 | g.216246689C= | CA1220619082 | USH2A | c.2705G= (p.Cys902=)
| |
| 1 | g.216246689C>G | CA344864209 | USH2A | c.2705G>C (p.Cys902Ser)
| |
| 1 | g.216246689C>T | CA1396185 | USH2A | c.2705G>A (p.Cys902Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246690A>C | CA344864210 | USH2A | c.2704T>G (p.Cys902Gly)
| |
| 1 | g.216246690A>G | CA344864211 | USH2A | c.2704T>C (p.Cys902Arg)
| |
| 1 | g.216246690A>T | CA344864212 | USH2A | c.2704T>A (p.Cys902Ser)
| |
| 1 | g.216246691C>A | CA344864213 | USH2A | c.2703G>T (p.Glu901Asp)
| |
| 1 | g.216246691C>G | CA344864214 | USH2A | c.2703G>C (p.Glu901Asp)
| |
| 1 | g.216246691C>T | CA423322504 | USH2A | c.2703G>A (p.Glu901=)
| ClinVar gnomAD v4 |
| 1 | g.216246692T>A | CA344864215 | USH2A | c.2702A>T (p.Glu901Val)
| |
| 1 | g.216246692T>C | CA344864216 | USH2A | c.2702A>G (p.Glu901Gly)
| |
| 1 | g.216246692T>G | CA344864217 | USH2A | c.2702A>C (p.Glu901Ala)
| |
| 1 | g.216246693C>A | CA344864218 | USH2A | c.2701G>T (p.Glu901Ter)
| |
| 1 | g.216246693C= | CA1220619083 | USH2A | c.2701G= (p.Glu901=)
| |
| 1 | g.216246693C>G | CA344864219 | USH2A | c.2701G>C (p.Glu901Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246693C>T | CA344864220 | USH2A | c.2701G>A (p.Glu901Lys)
| dbSNP gnomAD v4 |
| 1 | g.216246694A>C | CA344864221 | USH2A | c.2700T>G (p.Cys900Trp)
| |
| 1 | g.216246694A>G | CA423322518 | USH2A | c.2700T>C (p.Cys900=)
| gnomAD v4 |
| 1 | g.216246694A>T | CA344864222 | USH2A | c.2700T>A (p.Cys900Ter)
| |
| 1 | g.216246695C>A | CA344864223 | USH2A | c.2699G>T (p.Cys900Phe)
| |
| 1 | g.216246695C= | CA1220619084 | USH2A | c.2699G= (p.Cys900=)
| |
| 1 | g.216246695C>G | CA344864224 | USH2A | c.2699G>C (p.Cys900Ser)
| dbSNP gnomAD v2 |
| 1 | g.216246695C>T | CA1396186 | USH2A | c.2699G>A (p.Cys900Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246696A>C | CA344864225 | USH2A | c.2698T>G (p.Cys900Gly)
| |
| 1 | g.216246696A>G | CA344864226 | USH2A | c.2698T>C (p.Cys900Arg)
| |
| 1 | g.216246696A>T | CA344864227 | USH2A | c.2698T>A (p.Cys900Ser)
| |
| 1 | g.216246697C>A | CA344864228 | USH2A | c.2697G>T (p.Met899Ile)
| |
| 1 | g.216246697C>G | CA344864229 | USH2A | c.2697G>C (p.Met899Ile)
| |
| 1 | g.216246697C>T | CA344864230 | USH2A | c.2697G>A (p.Met899Ile)
| gnomAD v4 |
| 1 | g.216246699_216246705del | CA2650512848 | USH2A | c.2691_2697del (p.Gln898ValfsTer?)
| gnomAD v4 |
| 1 | g.216246698A= | CA1220619085 | USH2A | c.2696T= (p.Met899=)
| |
| 1 | g.216246698A>C | CA344864231 | USH2A | c.2696T>G (p.Met899Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246698A>G | CA344864232 | USH2A | c.2696T>C (p.Met899Thr)
| dbSNP gnomAD v4 |
| 1 | g.216246698A>T | CA344864233 | USH2A | c.2696T>A (p.Met899Lys)
| gnomAD v4 |
