| 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 |
| 1 | g.216246699T>A | CA344864235 | USH2A | c.2695A>T (p.Met899Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246699T>C | CA344864234 | USH2A | c.2695A>G (p.Met899Val)
| |
| 1 | g.216246699T>G | CA1396187 | USH2A | c.2695A>C (p.Met899Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246699T= | CA1220619086 | USH2A | c.2695A= (p.Met899=)
| |
| 1 | g.216246700C>A | CA344864236 | USH2A | c.2694G>T (p.Gln898His)
| |
| 1 | g.216246700C= | CA1220619087 | USH2A | c.2694G= (p.Gln898=)
| |
| 1 | g.216246700C>G | CA344864237 | USH2A | c.2694G>C (p.Gln898His)
| |
| 1 | g.216246700C>T | CA423322537 | USH2A | c.2694G>A (p.Gln898=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246701T>A | CA344864238 | USH2A | c.2693A>T (p.Gln898Leu)
| |
| 1 | g.216246701T>C | CA344864239 | USH2A | c.2693A>G (p.Gln898Arg)
| |
| 1 | g.216246701T>G | CA344864240 | USH2A | c.2693A>C (p.Gln898Pro)
| |
| 1 | g.216246701_216246714del | CA2650512849 | USH2A | c.2680_2693del (p.Phe894AspfsTer3)
| gnomAD v4 |
| 1 | g.216246702G>A | CA344864241 | USH2A | c.2692C>T (p.Gln898Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246702G>C | CA344864242 | USH2A | c.2692C>G (p.Gln898Glu)
| |
| 1 | g.216246702G= | CA1220619088 | USH2A | c.2692C= (p.Gln898=)
| |
| 1 | g.216246702G>T | CA344864243 | USH2A | c.2692C>A (p.Gln898Lys)
| |
| 1 | g.216246703G>A | CA423322548 | USH2A | c.2691C>T (p.Cys897=)
| |
| 1 | g.216246703G>C | CA344864244 | USH2A | c.2691C>G (p.Cys897Trp)
| |
| 1 | g.216246703G>T | CA344864245 | USH2A | c.2691C>A (p.Cys897Ter)
| ClinVar gnomAD v4 |
| 1 | g.216246709_216246710insGAGTGCAAAAAAGAAGCCAAAGGACTTCAGTGTGACACCTGCAGTGT | CA2747735778 | USH2A | c.2691_2692insAGGTGTCACACTGAAGTCCTTTGGCTTCTTTTTTGCACTCACACTGC (p.Gln898ArgfsTer?)
| |
| 1 | g.216246704C>A | CA1396188 | USH2A | c.2690G>T (p.Cys897Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246704C= | CA1220619089 | USH2A | c.2690G= (p.Cys897=)
| |
| 1 | g.216246704C>G | CA344864246 | USH2A | c.2690G>C (p.Cys897Ser)
| |
| 1 | g.216246704C>T | CA344864247 | USH2A | c.2690G>A (p.Cys897Tyr)
| |
| 1 | g.216246705A>C | CA344864248 | USH2A | c.2689T>G (p.Cys897Gly)
| |
| 1 | g.216246705A>G | CA344864250 | USH2A | c.2689T>C (p.Cys897Arg)
| |
| 1 | g.216246705A>T | CA344864249 | USH2A | c.2689T>A (p.Cys897Ser)
| |
| 1 | g.216246706G>A | CA1396189 | USH2A | c.2688C>T (p.His896=)
| dbSNP ExAC |
| 1 | g.216246706G>C | CA344864251 | USH2A | c.2688C>G (p.His896Gln)
| |
| 1 | g.216246706G= | CA1149036221 | USH2A | c.2688C= (p.His896=)
| |
| 1 | g.216246706G>T | CA344864252 | USH2A | c.2688C>A (p.His896Gln)
| |
| 1 | g.216246707T>A | CA344864253 | USH2A | c.2687A>T (p.His896Leu)
| |
| 1 | g.216246707T>C | CA344864254 | USH2A | c.2687A>G (p.His896Arg)
| |
| 1 | g.216246707T>G | CA344864255 | USH2A | c.2687A>C (p.His896Pro)
| |
| 1 | g.216246708G>A | CA344864256 | USH2A | c.2686C>T (p.His896Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246708G>C | CA344864257 | USH2A | c.2686C>G (p.His896Asp)
| |
| 1 | g.216246708G= | CA1220619090 | USH2A | c.2686C= (p.His896=)
| |
| 1 | g.216246708G>T | CA344864258 | USH2A | c.2686C>A (p.His896Asn)
| |
| 1 | g.216246709T>A | CA344864259 | USH2A | c.2685A>T (p.Gln895His)
| |
| 1 | g.216246709T>C | CA423322577 | USH2A | c.2685A>G (p.Gln895=)
| gnomAD v4 |
| 1 | g.216246709T>G | CA344864260 | USH2A | c.2685A>C (p.Gln895His)
| |
| 1 | g.216246710T>A | CA344864262 | USH2A | c.2684A>T (p.Gln895Leu)
| |
| 1 | g.216246710T>C | CA344864263 | USH2A | c.2684A>G (p.Gln895Arg)
| |
| 1 | g.216246710T>G | CA344864261 | USH2A | c.2684A>C (p.Gln895Pro)
| |
| 1 | g.216246711G>A | CA344864266 | USH2A | c.2683C>T (p.Gln895Ter)
| ClinVar |
| 1 | g.216246711G>C | CA344864264 | USH2A | c.2683C>G (p.Gln895Glu)
| |
| 1 | g.216246711G>T | CA344864265 | USH2A | c.2683C>A (p.Gln895Lys)
| |
| 1 | g.216246712A>C | CA344864267 | USH2A | c.2682T>G (p.Phe894Leu)
| |
| 1 | g.216246712A>G | CA423322589 | USH2A | c.2682T>C (p.Phe894=)
| |
| 1 | g.216246712A>T | CA344864268 | USH2A | c.2682T>A (p.Phe894Leu)
| |
| 1 | g.216246715del | CA2573132758 | USH2A | c.2682del (p.Gln895AsnfsTer?)
| ClinVar dbSNP |
| 1 | g.216246713A>C | CA344864269 | USH2A | c.2681T>G (p.Phe894Cys)
| |
| 1 | g.216246713A>G | CA344864270 | USH2A | c.2681T>C (p.Phe894Ser)
| |
| 1 | g.216246713A>T | CA344864271 | USH2A | c.2681T>A (p.Phe894Tyr)
| |
| 1 | g.216246714A= | CA1220619091 | USH2A | c.2680T= (p.Phe894=)
| |
| 1 | g.216246714A>C | CA344864272 | USH2A | c.2680T>G (p.Phe894Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246714A>G | CA344864273 | USH2A | c.2680T>C (p.Phe894Leu)
| |
| 1 | g.216246714A>T | CA344864274 | USH2A | c.2680T>A (p.Phe894Ile)
| |
| 1 | g.216246715A= | CA1220619092 | USH2A | c.2679T= (p.Asn893=)
| |
| 1 | g.216246715A>C | CA1396190 | USH2A | c.2679T>G (p.Asn893Lys)
| dbSNP ExAC gnomAD v2 |
| 1 | g.216246715A>G | CA423322602 | USH2A | c.2679T>C (p.Asn893=)
| dbSNP |
| 1 | g.216246715A>T | CA344864275 | USH2A | c.2679T>A (p.Asn893Lys)
| |
| 1 | g.216246716T>A | CA344864278 | USH2A | c.2678A>T (p.Asn893Ile)
| |
| 1 | g.216246716T>C | CA344864276 | USH2A | c.2678A>G (p.Asn893Ser)
| |
| 1 | g.216246716T>G | CA344864277 | USH2A | c.2678A>C (p.Asn893Thr)
| |
| 1 | g.216246717T>A | CA344864279 | USH2A | c.2677A>T (p.Asn893Tyr)
| |
| 1 | g.216246717T>C | CA344864280 | USH2A | c.2677A>G (p.Asn893Asp)
| gnomAD v4 |
| 1 | g.216246717T>G | CA344864281 | USH2A | c.2677A>C (p.Asn893His)
| |
| 1 | g.216246718G>A | CA423322613 | USH2A | c.2676C>T (p.Asp892=)
| dbSNP |
| 1 | g.216246718G>C | CA344864282 | USH2A | c.2676C>G (p.Asp892Glu)
| |
| 1 | g.216246718G= | CA1220619093 | USH2A | c.2676C= (p.Asp892=)
| |
| 1 | g.216246718G>T | CA344864283 | USH2A | c.2676C>A (p.Asp892Glu)
| |
| 1 | g.216246719T>A | CA344864284 | USH2A | c.2675A>T (p.Asp892Val)
| |
| 1 | g.216246719T>C | CA344864285 | USH2A | c.2675A>G (p.Asp892Gly)
| COSMIC COSMIC COSMIC |
| 1 | g.216246719T>G | CA344864286 | USH2A | c.2675A>C (p.Asp892Ala)
| |
| 1 | g.216246720C>A | CA344864287 | USH2A | c.2674G>T (p.Asp892Tyr)
| |
| 1 | g.216246720C>G | CA344864288 | USH2A | c.2674G>C (p.Asp892His)
| |
| 1 | g.216246720C>T | CA344864289 | USH2A | c.2674G>A (p.Asp892Asn)
| gnomAD v4 |
| 1 | g.216246721A>C | CA344864290 | USH2A | c.2673T>G (p.Ile891Met)
| |
| 1 | g.216246721A>G | CA423322624 | USH2A | c.2673T>C (p.Ile891=)
| |
| 1 | g.216246721A>T | CA423322626 | USH2A | c.2673T>A (p.Ile891=)
| |
| 1 | g.216246722A= | CA1146410131 | USH2A | c.2672T= (p.Ile891=)
| |
| 1 | g.216246722A>C | CA344864291 | USH2A | c.2672T>G (p.Ile891Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246722A>G | CA1396191 | USH2A | c.2672T>C (p.Ile891Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246722A>T | CA1396192 | USH2A | c.2672T>A (p.Ile891Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246723T>A | CA344864292 | USH2A | c.2671A>T (p.Ile891Phe)
| |
| 1 | g.216246723T>C | CA344864293 | USH2A | c.2671A>G (p.Ile891Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246723T>G | CA344864294 | USH2A | c.2671A>C (p.Ile891Leu)
| |
| 1 | g.216246723T= | CA1220619094 | USH2A | c.2671A= (p.Ile891=)
| |
| 1 | g.216246724G>A | CA423322642 | USH2A | c.2670C>T (p.Thr890=)
| |
| 1 | g.216246724G>C | CA423322640 | USH2A | c.2670C>G (p.Thr890=)
| |
| 1 | g.216246724G= | CA1220619095 | USH2A | c.2670C= (p.Thr890=)
| |
| 1 | g.216246724G>T | CA423322638 | USH2A | c.2670C>A (p.Thr890=)
| ClinVar dbSNP gnomAD v2 |
| 1 | g.216246724_216246725delinsTT | CA645515382 | USH2A | c.2669_2670delinsAA (p.Thr890Lys)
| COSMIC COSMIC COSMIC |
| 1 | g.216246725del | CA2580062116 | USH2A | c.2670del (p.Ile891LeufsTer?)
| ClinVar |
| 1 | g.216246725G>A | CA1396193 | USH2A | c.2669C>T (p.Thr890Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246725G>C | CA344864295 | USH2A | c.2669C>G (p.Thr890Ser)
| |
| 1 | g.216246725G= | CA1220619096 | USH2A | c.2669C= (p.Thr890=)
| |
| 1 | g.216246725G>T | CA344864296 | USH2A | c.2669C>A (p.Thr890Asn)
| |
| 1 | g.216246726T>A | CA344864297 | USH2A | c.2668A>T (p.Thr890Ser)
| |
| 1 | g.216246726T>C | CA344864298 | USH2A | c.2668A>G (p.Thr890Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246726T>G | CA344864299 | USH2A | c.2668A>C (p.Thr890Pro)
| gnomAD v4 |
| 1 | g.216246726T= | CA1220619097 | USH2A | c.2668A= (p.Thr890=)
| |
| 1 | g.216246727C>A | CA344864300 | USH2A | c.2667G>T (p.Leu889Phe)
| |
| 1 | g.216246727C>G | CA344864301 | USH2A | c.2667G>C (p.Leu889Phe)
| COSMIC COSMIC COSMIC |
| 1 | g.216246727C>T | CA423322654 | USH2A | c.2667G>A (p.Leu889=)
| gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246728A= | CA1220619098 | USH2A | c.2666T= (p.Leu889=)
| |
| 1 | g.216246728A>C | CA344864302 | USH2A | c.2666T>G (p.Leu889Trp)
| gnomAD v4 |
| 1 | g.216246728A>G | CA344864303 | USH2A | c.2666T>C (p.Leu889Ser)
| |
| 1 | g.216246728A>T | CA344864304 | USH2A | c.2666T>A (p.Leu889Ter)
| ClinVar dbSNP |
| 1 | g.216246729A= | CA1220619099 | USH2A | c.2665T= (p.Leu889=)
| |
| 1 | g.216246729A>C | CA344864305 | USH2A | c.2665T>G (p.Leu889Val)
| gnomAD v4 |
| 1 | g.216246729A>G | CA423322663 | USH2A | c.2665T>C (p.Leu889=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246729A>T | CA344864306 | USH2A | c.2665T>A (p.Leu889Met)
| |
| 1 | g.216246730A>C | CA344864307 | USH2A | c.2664T>G (p.Asn888Lys)
| |
| 1 | g.216246730A>G | CA423322666 | USH2A | c.2664T>C (p.Asn888=)
| ClinVar |
| 1 | g.216246730A>T | CA344864308 | USH2A | c.2664T>A (p.Asn888Lys)
| |
| 1 | g.216246731T>A | CA344864309 | USH2A | c.2663A>T (p.Asn888Ile)
| |
| 1 | g.216246731T>C | CA344864310 | USH2A | c.2663A>G (p.Asn888Ser)
| |
| 1 | g.216246731T>G | CA344864311 | USH2A | c.2663A>C (p.Asn888Thr)
| |
| 1 | g.216246732T>A | CA344864312 | USH2A | c.2662A>T (p.Asn888Tyr)
| |
| 1 | g.216246732T>C | CA344864313 | USH2A | c.2662A>G (p.Asn888Asp)
| |
| 1 | g.216246732T>G | CA344864314 | USH2A | c.2662A>C (p.Asn888His)
| |
| 1 | g.216246733G>A | CA423322677 | USH2A | c.2661C>T (p.Tyr887=)
| dbSNP gnomAD v4 |
| 1 | g.216246733G>C | CA10581646 | USH2A | c.2661C>G (p.Tyr887Ter)
| ClinVar dbSNP |
| 1 | g.216246733G= | CA1220619100 | USH2A | c.2661C= (p.Tyr887=)
| |
| 1 | g.216246733G>T | CA344864315 | USH2A | c.2661C>A (p.Tyr887Ter)
| |
| 1 | g.216246734T>A | CA344864316 | USH2A | c.2660A>T (p.Tyr887Phe)
| |
| 1 | g.216246734T>C | CA344864317 | USH2A | c.2660A>G (p.Tyr887Cys)
| |
| 1 | g.216246734T>G | CA344864318 | USH2A | c.2660A>C (p.Tyr887Ser)
| |
| 1 | g.216246735A>C | CA344864321 | USH2A | c.2659T>G (p.Tyr887Asp)
| |
| 1 | g.216246735A>G | CA344864320 | USH2A | c.2659T>C (p.Tyr887His)
| |
| 1 | g.216246735A>T | CA344864319 | USH2A | c.2659T>A (p.Tyr887Asn)
| |
| 1 | g.216246736C>A | CA344864322 | USH2A | c.2658G>T (p.Arg886Ser)
| |
| 1 | g.216246736C= | CA1220619101 | USH2A | c.2658G= (p.Arg886=)
| |
| 1 | g.216246736C>G | CA344864323 | USH2A | c.2658G>C (p.Arg886Ser)
| |
| 1 | g.216246736C>T | CA1396194 | USH2A | c.2658G>A (p.Arg886=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246737C>A | CA344864324 | USH2A | c.2657G>T (p.Arg886Met)
| |
| 1 | g.216246737C>G | CA344864326 | USH2A | c.2657G>C (p.Arg886Thr)
| |
| 1 | g.216246737C>T | CA344864325 | USH2A | c.2657G>A (p.Arg886Lys)
| gnomAD v4 |
| 1 | g.216246738T>A | CA344864327 | USH2A | c.2656A>T (p.Arg886Trp)
| |
| 1 | g.216246738T>C | CA344864328 | USH2A | c.2656A>G (p.Arg886Gly)
| |
| 1 | g.216246738T>G | CA423322702 | USH2A | c.2656A>C (p.Arg886=)
| |
| 1 | g.216246739G>A | CA423322703 | USH2A | c.2655C>T (p.His885=)
| dbSNP gnomAD v4 |
| 1 | g.216246739G>C | CA344864329 | USH2A | c.2655C>G (p.His885Gln)
| gnomAD v4 |
| 1 | g.216246739G= | CA1220619102 | USH2A | c.2655C= (p.His885=)
| |
| 1 | g.216246739G>T | CA344864330 | USH2A | c.2655C>A (p.His885Gln)
| |
| 1 | g.216246740T>A | CA344864331 | USH2A | c.2654A>T (p.His885Leu)
| |
| 1 | g.216246740T>C | CA344864332 | USH2A | c.2654A>G (p.His885Arg)
| |
| 1 | g.216246740T>G | CA344864333 | USH2A | c.2654A>C (p.His885Pro)
| gnomAD v4 |
| 1 | g.216246741G>A | CA1396195 | USH2A | c.2653C>T (p.His885Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246741G>C | CA344864334 | USH2A | c.2653C>G (p.His885Asp)
| |
| 1 | g.216246741G= | CA1148283335 | USH2A | c.2653C= (p.His885=)
| |
| 1 | g.216246741G>T | CA344864335 | USH2A | c.2653C>A (p.His885Asn)
| |
| 1 | g.216246742A>C | CA423322716 | USH2A | c.2652T>G (p.Pro884=)
| |
| 1 | g.216246742A>G | CA423322718 | USH2A | c.2652T>C (p.Pro884=)
| |
| 1 | g.216246742A>T | CA423322723 | USH2A | c.2652T>A (p.Pro884=)
| |
| 1 | g.216246743G>A | CA344864336 | USH2A | c.2651C>T (p.Pro884Leu)
| dbSNP |
| 1 | g.216246743G>C | CA344864337 | USH2A | c.2651C>G (p.Pro884Arg)
| |
| 1 | g.216246743G= | CA1220619103 | USH2A | c.2651C= (p.Pro884=)
| |
| 1 | g.216246743G>T | CA344864338 | USH2A | c.2651C>A (p.Pro884His)
| |
| 1 | g.216246744G>A | CA344864339 | USH2A | c.2650C>T (p.Pro884Ser)
| |
| 1 | g.216246744G>C | CA344864341 | USH2A | c.2650C>G (p.Pro884Ala)
| |
| 1 | g.216246744G= | CA1220619104 | USH2A | c.2650C= (p.Pro884=)
| |
| 1 | g.216246744G>T | CA344864340 | USH2A | c.2650C>A (p.Pro884Thr)
| |
| 1 | g.216246744_216246745delinsGC | CA1220619105 | USH2A | c.2649_2650delinsGC (p.Glu883=)
| |
| 1 | g.216246745del | CA1220619106 | USH2A | c.2649del (p.Glu883AspfsTer7)
| ClinVar dbSNP |
| 1 | g.216246745C>A | CA344864342 | USH2A | c.2649G>T (p.Glu883Asp)
| COSMIC COSMIC COSMIC |
| 1 | g.216246745C>G | CA344864343 | USH2A | c.2649G>C (p.Glu883Asp)
| |
| 1 | g.216246745C>T | CA423322733 | USH2A | c.2649G>A (p.Glu883=)
| ClinVar dbSNP |
| 1 | g.216246745dup | CA916082143 | USH2A | c.2649dup (p.Pro884AlafsTer9)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216246746T>A | CA344864344 | USH2A | c.2648A>T (p.Glu883Val)
| |
| 1 | g.216246746T>C | CA344864345 | USH2A | c.2648A>G (p.Glu883Gly)
| |
| 1 | g.216246746T>G | CA344864346 | USH2A | c.2648A>C (p.Glu883Ala)
| |
| 1 | g.216246747C>A | CA344864347 | USH2A | c.2647G>T (p.Glu883Ter)
| ClinVar |
| 1 | g.216246747C>G | CA344864348 | USH2A | c.2647G>C (p.Glu883Gln)
| |
| 1 | g.216246747C>T | CA344864349 | USH2A | c.2647G>A (p.Glu883Lys)
| |
| 1 | g.216246748A>C | CA344864350 | USH2A | c.2646T>G (p.Cys882Trp)
| |
| 1 | g.216246748A>G | CA423322747 | USH2A | c.2646T>C (p.Cys882=)
| gnomAD v4 |
| 1 | g.216246748A>T | CA344864351 | USH2A | c.2646T>A (p.Cys882Ter)
| |
| 1 | g.216246749C>A | CA344864354 | USH2A | c.2645G>T (p.Cys882Phe)
| |
| 1 | g.216246749C>G | CA344864353 | USH2A | c.2645G>C (p.Cys882Ser)
| |
| 1 | g.216246749C>T | CA344864352 | USH2A | c.2645G>A (p.Cys882Tyr)
| gnomAD v4 |
| 1 | g.216246750A>C | CA344864357 | USH2A | c.2644T>G (p.Cys882Gly)
| |
| 1 | g.216246750A>G | CA344864355 | USH2A | c.2644T>C (p.Cys882Arg)
| |
| 1 | g.216246750A>T | CA344864356 | USH2A | c.2644T>A (p.Cys882Ser)
| gnomAD v4 |
| 1 | g.216246751C>A | CA344864358 | USH2A | c.2643G>T (p.Gln881His)
| |
| 1 | g.216246751C= | CA1220619107 | USH2A | c.2643G= (p.Gln881=)
| |
| 1 | g.216246751C>G | CA344864359 | USH2A | c.2643G>C (p.Gln881His)
| gnomAD v4 |
| 1 | g.216246751C>T | CA423322760 | USH2A | c.2643G>A (p.Gln881=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246752T>A | CA344864360 | USH2A | c.2642A>T (p.Gln881Leu)
| |
| 1 | g.216246752T>C | CA344864361 | USH2A | c.2642A>G (p.Gln881Arg)
| |
| 1 | g.216246752T>G | CA1396196 | USH2A | c.2642A>C (p.Gln881Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246752T= | CA1220619108 | USH2A | c.2642A= (p.Gln881=)
| |
| 1 | g.216246753G>A | CA344864362 | USH2A | c.2641C>T (p.Gln881Ter)
| |
| 1 | g.216246753G>C | CA344864363 | USH2A | c.2641C>G (p.Gln881Glu)
| |
| 1 | g.216246753G>T | CA344864364 | USH2A | c.2641C>A (p.Gln881Lys)
| |
| 1 | g.216246754A>C | CA344864365 | USH2A | c.2640T>G (p.Asn880Lys)
| |
| 1 | g.216246754A>G | CA423322773 | USH2A | c.2640T>C (p.Asn880=)
| ClinVar dbSNP |
| 1 | g.216246754A>T | CA344864366 | USH2A | c.2640T>A (p.Asn880Lys)
| |
| 1 | g.216246755T>A | CA344864368 | USH2A | c.2639A>T (p.Asn880Ile)
| |
| 1 | g.216246755T>C | CA344864369 | USH2A | c.2639A>G (p.Asn880Ser)
| dbSNP |
| 1 | g.216246755T>G | CA344864367 | USH2A | c.2639A>C (p.Asn880Thr)
| |
| 1 | g.216246755T= | CA1220619109 | USH2A | c.2639A= (p.Asn880=)
| |
| 1 | g.216246756T>A | CA344864370 | USH2A | c.2638A>T (p.Asn880Tyr)
| ClinVar |
| 1 | g.216246756T>C | CA344864371 | USH2A | c.2638A>G (p.Asn880Asp)
| |
| 1 | g.216246756T>G | CA344864372 | USH2A | c.2638A>C (p.Asn880His)
| |
| 1 | g.216246757A>C | CA344864373 | USH2A | c.2637T>G (p.Cys879Trp)
| |
| 1 | g.216246757A>G | CA423322785 | USH2A | c.2637T>C (p.Cys879=)
| ClinVar gnomAD v4 |
| 1 | g.216246757A>T | CA344864374 | USH2A | c.2637T>A (p.Cys879Ter)
| |
| 1 | g.216246758C>A | CA344864377 | USH2A | c.2636G>T (p.Cys879Phe)
| |
| 1 | g.216246758C= | CA1220619110 | USH2A | c.2636G= (p.Cys879=)
| |
| 1 | g.216246758C>G | CA344864375 | USH2A | c.2636G>C (p.Cys879Ser)
| |
| 1 | g.216246758C>T | CA344864376 | USH2A | c.2636G>A (p.Cys879Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246759A>C | CA344864378 | USH2A | c.2635T>G (p.Cys879Gly)
| |
| 1 | g.216246759A>G | CA344864379 | USH2A | c.2635T>C (p.Cys879Arg)
| |
| 1 | g.216246759A>T | CA344864380 | USH2A | c.2635T>A (p.Cys879Ser)
| |
| 1 | g.216246760G>A | CA423322795 | USH2A | c.2634C>T (p.Arg878=)
| |
| 1 | g.216246760G>C | CA423322797 | USH2A | c.2634C>G (p.Arg878=)
| |
| 1 | g.216246760G>T | CA423322798 | USH2A | c.2634C>A (p.Arg878=)
| |
| 1 | g.216246761C>A | CA1396197 | USH2A | c.2633G>T (p.Arg878Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246761C= | CA1143397411 | USH2A | c.2633G= (p.Arg878=)
| |
| 1 | g.216246761C>G | CA1396198 | USH2A | c.2633G>C (p.Arg878Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246761C>T | CA179582 | USH2A | c.2633G>A (p.Arg878His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246762G>A | CA37501164 | USH2A | c.2632C>T (p.Arg878Cys)
| ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246762G>C | CA344864382 | USH2A | c.2632C>G (p.Arg878Gly)
| |
| 1 | g.216246762G= | CA1220619111 | USH2A | c.2632C= (p.Arg878=)
| |
| 1 | g.216246762G>T | CA344864381 | USH2A | c.2632C>A (p.Arg878Ser)
| |
| 1 | g.216246763A>C | CA423322809 | USH2A | c.2631T>G (p.Leu877=)
| |
| 1 | g.216246763A>G | CA423322813 | USH2A | c.2631T>C (p.Leu877=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216246763A>T | CA423322815 | USH2A | c.2631T>A (p.Leu877=)
| |
| 1 | g.216246764A>C | CA344864383 | USH2A | c.2630T>G (p.Leu877Arg)
| gnomAD v4 |
| 1 | g.216246764A>G | CA344864384 | USH2A | c.2630T>C (p.Leu877Pro)
| |
| 1 | g.216246764A>T | CA344864385 | USH2A | c.2630T>A (p.Leu877His)
| |
| 1 | g.216246764_216246765insTCA | CA2650512850 | USH2A | c.2630_2631insGAT (p.Leu877_Arg878insIle)
| gnomAD v4 |
| 1 | g.216246765G>A | CA344864386 | USH2A | c.2629C>T (p.Leu877Phe)
| |
| 1 | g.216246765G>C | CA344864387 | USH2A | c.2629C>G (p.Leu877Val)
| |
| 1 | g.216246765G>T | CA344864388 | USH2A | c.2629C>A (p.Leu877Ile)
| COSMIC COSMIC COSMIC |
| 1 | g.216246765_216246766insTGTGAC | CA2650512851 | USH2A | c.2628_2629insGTCACA (p.Gly876_Leu877insValThr)
| gnomAD v4 |
| 1 | g.216246766A= | CA1220619112 | USH2A | c.2628T= (p.Gly876=)
| |
| 1 | g.216246766A>C | CA423322816 | USH2A | c.2628T>G (p.Gly876=)
| |
| 1 | g.216246766A>G | CA423322817 | USH2A | c.2628T>C (p.Gly876=)
| |
| 1 | g.216246766A>T | CA37501168 | USH2A | c.2628T>A (p.Gly876=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246767C>A | CA344864389 | USH2A | c.2627G>T (p.Gly876Val)
| |
| 1 | g.216246767C= | CA1220619113 | USH2A | c.2627G= (p.Gly876=)
| |
| 1 | g.216246767C>G | CA344864390 | USH2A | c.2627G>C (p.Gly876Ala)
| |
| 1 | g.216246767C>T | CA1396199 | USH2A | c.2627G>A (p.Gly876Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246768C>A | CA344864391 | USH2A | c.2626G>T (p.Gly876Cys)
| COSMIC COSMIC COSMIC |
| 1 | g.216246768C= | CA1220619114 | USH2A | c.2626G= (p.Gly876=)
| |
| 1 | g.216246768C>G | CA344864392 | USH2A | c.2626G>C (p.Gly876Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246768C>T | CA344864393 | USH2A | c.2626G>A (p.Gly876Ser)
| |
| 1 | g.216246769T>A | CA423322818 | USH2A | c.2625A>T (p.Thr875=)
| |
| 1 | g.216246769T>C | CA423322819 | USH2A | c.2625A>G (p.Thr875=)
| gnomAD v4 |
| 1 | g.216246769T>G | CA423322820 | USH2A | c.2625A>C (p.Thr875=)
| |
| 1 | g.216246770G>A | CA344864396 | USH2A | c.2624C>T (p.Thr875Ile)
| |
| 1 | g.216246770G>C | CA344864395 | USH2A | c.2624C>G (p.Thr875Arg)
| |
| 1 | g.216246770G>T | CA344864394 | USH2A | c.2624C>A (p.Thr875Lys)
| COSMIC COSMIC COSMIC |
| 1 | g.216246771T>A | CA344864397 | USH2A | c.2623A>T (p.Thr875Ser)
| |
| 1 | g.216246771T>C | CA344864398 | USH2A | c.2623A>G (p.Thr875Ala)
| |
| 1 | g.216246771T>G | CA344864399 | USH2A | c.2623A>C (p.Thr875Pro)
| |
| 1 | g.216246772T>A | CA37501176 | USH2A | c.2622A>T (p.Val874=)
| dbSNP |
| 1 | g.216246772T>C | CA423322821 | USH2A | c.2622A>G (p.Val874=)
| |
| 1 | g.216246772T>G | CA423322822 | USH2A | c.2622A>C (p.Val874=)
| |
| 1 | g.216246772T= | CA1220619115 | USH2A | c.2622A= (p.Val874=)
| |
| 1 | g.216246773A= | CA1220619116 | USH2A | c.2621T= (p.Val874=)
| |
| 1 | g.216246773A>C | CA344864400 | USH2A | c.2621T>G (p.Val874Gly)
| |
| 1 | g.216246773A>G | CA344864401 | USH2A | c.2621T>C (p.Val874Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246773A>T | CA344864402 | USH2A | c.2621T>A (p.Val874Glu)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216246774C>A | CA344864403 | USH2A | c.2620G>T (p.Val874Leu)
| gnomAD v4 |
| 1 | g.216246774C>G | CA344864404 | USH2A | c.2620G>C (p.Val874Leu)
| |
| 1 | g.216246774C>T | CA344864405 | USH2A | c.2620G>A (p.Val874Ile)
| |
| 1 | g.216246775C>A | CA423322823 | USH2A | c.2619G>T (p.Gly873=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216246775C= | CA1220619117 | USH2A | c.2619G= (p.Gly873=)
| |
| 1 | g.216246775C>G | CA423322824 | USH2A | c.2619G>C (p.Gly873=)
| |
| 1 | g.216246775C>T | CA1396200 | USH2A | c.2619G>A (p.Gly873=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246776C>A | CA344864406 | USH2A | c.2618G>T (p.Gly873Val)
| |
| 1 | g.216246776C>G | CA344864407 | USH2A | c.2618G>C (p.Gly873Ala)
| |
| 1 | g.216246776C>T | CA344864408 | USH2A | c.2618G>A (p.Gly873Glu)
| |
| 1 | g.216246777C>A | CA344864409 | USH2A | c.2617G>T (p.Gly873Trp)
| |
| 1 | g.216246777C= | CA1220619119 | USH2A | c.2617G= (p.Gly873=)
| |
| 1 | g.216246777C>G | CA344864410 | USH2A | c.2617G>C (p.Gly873Arg)
| |
| 1 | g.216246777C>T | CA37501180 | USH2A | c.2617G>A (p.Gly873Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246777_216246778del | CA913072828 | USH2A | c.2616_2617del (p.Val874AsnfsTer6)
| |
| 1 | g.216246777_216246778delinsCT | CA1220619118 | USH2A | c.2616_2617delinsAG (p.Leu872=)
| |
| 1 | g.216246778del | CA658823242 | USH2A | c.2616del (p.Val874Ter)
| ClinVar dbSNP |
| 1 | g.216246778T>A | CA344864411 | USH2A | c.2616A>T (p.Leu872Phe)
| |
| 1 | g.216246778T>C | CA423322825 | USH2A | c.2616A>G (p.Leu872=)
| |
| 1 | g.216246778T>G | CA344864412 | USH2A | c.2616A>C (p.Leu872Phe)
| |
| 1 | g.216246779A>C | CA344864413 | USH2A | c.2615T>G (p.Leu872Ter)
| |
| 1 | g.216246779A>G | CA344864414 | USH2A | c.2615T>C (p.Leu872Ser)
| |
| 1 | g.216246779A>T | CA344864415 | USH2A | c.2615T>A (p.Leu872Ter)
| |
| 1 | g.216246780A>C | CA344864416 | USH2A | c.2614T>G (p.Leu872Val)
| |
| 1 | g.216246780A>G | CA423322826 | USH2A | c.2614T>C (p.Leu872=)
| |
| 1 | g.216246780A>T | CA344864417 | USH2A | c.2614T>A (p.Leu872Ile)
| |
| 1 | g.216246781T>A | CA344864418 | USH2A | c.2613A>T (p.Lys871Asn)
| |
| 1 | g.216246781T>C | CA423322827 | USH2A | c.2613A>G (p.Lys871=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246781T>G | CA344864419 | USH2A | c.2613A>C (p.Lys871Asn)
| |
| 1 | g.216246781T= | CA1220619120 | USH2A | c.2613A= (p.Lys871=)
| |
| 1 | g.216246782T>A | CA344864420 | USH2A | c.2612A>T (p.Lys871Ile)
| |
| 1 | g.216246782T>C | CA344864421 | USH2A | c.2612A>G (p.Lys871Arg)
| |
| 1 | g.216246782T>G | CA344864422 | USH2A | c.2612A>C (p.Lys871Thr)
| |
| 1 | g.216246783T>A | CA344864425 | USH2A | c.2611A>T (p.Lys871Ter)
| |
| 1 | g.216246783T>C | CA344864423 | USH2A | c.2611A>G (p.Lys871Glu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246783T>G | CA344864424 | USH2A | c.2611A>C (p.Lys871Gln)
| |
| 1 | g.216246783T= | CA1220619121 | USH2A | c.2611A= (p.Lys871=)
| |
| 1 | g.216246784G>A | CA423322828 | USH2A | c.2610C>T (p.Cys870=)
| |
| 1 | g.216246784G>C | CA1396202 | USH2A | c.2610C>G (p.Cys870Trp)
| dbSNP ExAC gnomAD v4 |
| 1 | g.216246784G= | CA1220619122 | USH2A | c.2610C= (p.Cys870=)
| |
| 1 | g.216246784G>T | CA1396201 | USH2A | c.2610C>A (p.Cys870Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246785C>A | CA1396203 | USH2A | c.2609G>T (p.Cys870Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246785C= | CA1220619123 | USH2A | c.2609G= (p.Cys870=)
| |
| 1 | g.216246785C>G | CA344864426 | USH2A | c.2609G>C (p.Cys870Ser)
| |
| 1 | g.216246785C>T | CA344864427 | USH2A | c.2609G>A (p.Cys870Tyr)
| gnomAD v4 |
