| 1 | g.215817144A>C | CA423309013 | USH2A | c.9423T>G (p.Leu3141=)
| |
| 1 | g.215817144A>G | CA423309015 | USH2A | c.9423T>C (p.Leu3141=)
| |
| 1 | g.215817144A>T | CA423309016 | USH2A | c.9423T>A (p.Leu3141=)
| |
| 1 | g.215817145A>C | CA344825222 | USH2A | c.9422T>G (p.Leu3141Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817145A>G | CA344825223 | USH2A | c.9422T>C (p.Leu3141Pro)
| gnomAD v4 |
| 1 | g.215817145A>T | CA344825226 | USH2A | c.9422T>A (p.Leu3141His)
| |
| 1 | g.215817146G>A | CA344825230 | USH2A | c.9421C>T (p.Leu3141Phe)
| |
| 1 | g.215817146G>C | CA344825231 | USH2A | c.9421C>G (p.Leu3141Val)
| |
| 1 | g.215817146G>T | CA344825234 | USH2A | c.9421C>A (p.Leu3141Ile)
| |
| 1 | g.215817147A>C | CA344825236 | USH2A | c.9420T>G (p.Ile3140Met)
| |
| 1 | g.215817147A>G | CA423309023 | USH2A | c.9420T>C (p.Ile3140=)
| ClinVar dbSNP |
| 1 | g.215817147A>T | CA423309025 | USH2A | c.9420T>A (p.Ile3140=)
| |
| 1 | g.215817148A= | CA1220434350 | USH2A | c.9419T= (p.Ile3140=)
| |
| 1 | g.215817148A>C | CA344825238 | USH2A | c.9419T>G (p.Ile3140Ser)
| |
| 1 | g.215817148A>G | CA344825243 | USH2A | c.9419T>C (p.Ile3140Thr)
| gnomAD v4 |
| 1 | g.215817148A>T | CA344825241 | USH2A | c.9419T>A (p.Ile3140Asn)
| ClinVar dbSNP |
| 1 | g.215817149T>A | CA344825246 | USH2A | c.9418A>T (p.Ile3140Phe)
| |
| 1 | g.215817149T>C | CA344825250 | USH2A | c.9418A>G (p.Ile3140Val)
| dbSNP gnomAD v2 |
| 1 | g.215817149T>G | CA344825248 | USH2A | c.9418A>C (p.Ile3140Leu)
| |
| 1 | g.215817149T= | CA1220434351 | USH2A | c.9418A= (p.Ile3140=)
| |
| 1 | g.215817150G>A | CA423309037 | USH2A | c.9417C>T (p.Ile3139=)
| |
| 1 | g.215817150G>C | CA344825253 | USH2A | c.9417C>G (p.Ile3139Met)
| |
| 1 | g.215817150G>T | CA423309040 | USH2A | c.9417C>A (p.Ile3139=)
| |
| 1 | g.215817151A>C | CA344825254 | USH2A | c.9416T>G (p.Ile3139Ser)
| |
| 1 | g.215817151A>G | CA344825257 | USH2A | c.9416T>C (p.Ile3139Thr)
| |
| 1 | g.215817151A>T | CA344825260 | USH2A | c.9416T>A (p.Ile3139Asn)
| |
| 1 | g.215817152T>A | CA344825263 | USH2A | c.9415A>T (p.Ile3139Phe)
| |
| 1 | g.215817152T>C | CA1394317 | USH2A | c.9415A>G (p.Ile3139Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817152T>G | CA344825267 | USH2A | c.9415A>C (p.Ile3139Leu)
| |
| 1 | g.215817152T= | CA1220434352 | USH2A | c.9415A= (p.Ile3139=)
| |
| 1 | g.215817153G>A | CA423309050 | USH2A | c.9414C>T (p.Gly3138=)
| ClinVar |
| 1 | g.215817153G>C | CA423309051 | USH2A | c.9414C>G (p.Gly3138=)
| gnomAD v4 |
| 1 | g.215817153G>T | CA423309053 | USH2A | c.9414C>A (p.Gly3138=)
| |
| 1 | g.215817154C>A | CA344825271 | USH2A | c.9413G>T (p.Gly3138Val)
| |
| 1 | g.215817154C= | CA1220434353 | USH2A | c.9413G= (p.Gly3138=)
| |
| 1 | g.215817154C>G | CA344825273 | USH2A | c.9413G>C (p.Gly3138Ala)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215817154C>T | CA1394318 | USH2A | c.9413G>A (p.Gly3138Asp)
| ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.215817155C>A | CA344825282 | USH2A | c.9412G>T (p.Gly3138Cys)
| gnomAD v4 |
| 1 | g.215817155C>G | CA344825279 | USH2A | c.9412G>C (p.Gly3138Arg)
| |
| 1 | g.215817155C>T | CA344825277 | USH2A | c.9412G>A (p.Gly3138Ser)
| |
| 1 | g.215817156A>C | CA344825285 | USH2A | c.9411T>G (p.Asn3137Lys)
| |
| 1 | g.215817156A>G | CA423309062 | USH2A | c.9411T>C (p.Asn3137=)
| ClinVar COSMIC COSMIC |
| 1 | g.215817156A>T | CA344825287 | USH2A | c.9411T>A (p.Asn3137Lys)
| |
| 1 | g.215817157T>A | CA344825289 | USH2A | c.9410A>T (p.Asn3137Ile)
| |
| 1 | g.215817157T>C | CA344825291 | USH2A | c.9410A>G (p.Asn3137Ser)
| |
| 1 | g.215817157T>G | CA344825294 | USH2A | c.9410A>C (p.Asn3137Thr)
| |
| 1 | g.215817158T>A | CA344825297 | USH2A | c.9409A>T (p.Asn3137Tyr)
| |
| 1 | g.215817158T>C | CA344825300 | USH2A | c.9409A>G (p.Asn3137Asp)
| |
| 1 | g.215817158T>G | CA344825302 | USH2A | c.9409A>C (p.Asn3137His)
| |
| 1 | g.215817159T>A | CA423309073 | USH2A | c.9408A>T (p.Pro3136=)
| |
| 1 | g.215817159T>C | CA423309074 | USH2A | c.9408A>G (p.Pro3136=)
| |
| 1 | g.215817159T>G | CA423309077 | USH2A | c.9408A>C (p.Pro3136=)
| gnomAD v4 |
| 1 | g.215817160G>A | CA344825305 | USH2A | c.9407C>T (p.Pro3136Leu)
| |
| 1 | g.215817160G>C | CA344825308 | USH2A | c.9407C>G (p.Pro3136Arg)
| COSMIC |
| 1 | g.215817160G>T | CA344825311 | USH2A | c.9407C>A (p.Pro3136Gln)
| |
| 1 | g.215817161G>A | CA344825315 | USH2A | c.9406C>T (p.Pro3136Ser)
| |
| 1 | g.215817161G>C | CA344825316 | USH2A | c.9406C>G (p.Pro3136Ala)
| gnomAD v4 |
| 1 | g.215817161G= | CA1220434354 | USH2A | c.9406C= (p.Pro3136=)
| |
| 1 | g.215817161G>T | CA37428130 | USH2A | c.9406C>A (p.Pro3136Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817162C>A | CA344825318 | USH2A | c.9405G>T (p.Lys3135Asn)
| |
| 1 | g.215817162C>G | CA344825320 | USH2A | c.9405G>C (p.Lys3135Asn)
| |
| 1 | g.215817162C>T | CA423309084 | USH2A | c.9405G>A (p.Lys3135=)
| |
| 1 | g.215817163T>A | CA344825322 | USH2A | c.9404A>T (p.Lys3135Met)
| |
| 1 | g.215817163T>C | CA344825324 | USH2A | c.9404A>G (p.Lys3135Arg)
| |
| 1 | g.215817163T>G | CA344825326 | USH2A | c.9404A>C (p.Lys3135Thr)
| |
| 1 | g.215817164T>A | CA344825336 | USH2A | c.9403A>T (p.Lys3135Ter)
| gnomAD v4 |
| 1 | g.215817164T>C | CA344825339 | USH2A | c.9403A>G (p.Lys3135Glu)
| |
| 1 | g.215817164T>G | CA344825340 | USH2A | c.9403A>C (p.Lys3135Gln)
| COSMIC COSMIC |
| 1 | g.215817165C>A | CA423309092 | USH2A | c.9402G>T (p.Arg3134=)
| |
| 1 | g.215817165C= | CA1220434355 | USH2A | c.9402G= (p.Arg3134=)
| |
| 1 | g.215817165C>G | CA423309094 | USH2A | c.9402G>C (p.Arg3134=)
| |
| 1 | g.215817165C>T | CA10576376 | USH2A | c.9402G>A (p.Arg3134=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215817166C>A | CA344825342 | USH2A | c.9401G>T (p.Arg3134Leu)
| |
| 1 | g.215817166C= | CA1220434356 | USH2A | c.9401G= (p.Arg3134=)
| |
| 1 | g.215817166C>G | CA344825344 | USH2A | c.9401G>C (p.Arg3134Pro)
| dbSNP gnomAD v4 |
| 1 | g.215817166C>T | CA245859 | USH2A | c.9401G>A (p.Arg3134Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215817167G>A | CA1394319 | USH2A | c.9400C>T (p.Arg3134Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215817167G>C | CA344825348 | USH2A | c.9400C>G (p.Arg3134Gly)
| |
| 1 | g.215817167G= | CA1149121163 | USH2A | c.9400C= (p.Arg3134=)
| |
| 1 | g.215817167G>T | CA423309103 | USH2A | c.9400C>A (p.Arg3134=)
| gnomAD v4 |
| 1 | g.215817168T>A | CA423309109 | USH2A | c.9399A>T (p.Pro3133=)
| |
| 1 | g.215817168T>C | CA423309107 | USH2A | c.9399A>G (p.Pro3133=)
| ClinVar |
| 1 | g.215817168T>G | CA423309105 | USH2A | c.9399A>C (p.Pro3133=)
| |
| 1 | g.215817169G>A | CA344825356 | USH2A | c.9398C>T (p.Pro3133Leu)
| dbSNP gnomAD v4 |
| 1 | g.215817169G>C | CA344825358 | USH2A | c.9398C>G (p.Pro3133Arg)
| |
| 1 | g.215817169G= | CA1220434357 | USH2A | c.9398C= (p.Pro3133=)
| |
| 1 | g.215817169G>T | CA344825360 | USH2A | c.9398C>A (p.Pro3133Gln)
| |
| 1 | g.215817170G>A | CA344825364 | USH2A | c.9397C>T (p.Pro3133Ser)
| |
| 1 | g.215817170G>C | CA344825366 | USH2A | c.9397C>G (p.Pro3133Ala)
| |
| 1 | g.215817170G>T | CA344825369 | USH2A | c.9397C>A (p.Pro3133Thr)
| |
| 1 | g.215817171A>C | CA423309117 | USH2A | c.9396T>G (p.Ser3132=)
| |
| 1 | g.215817171A>G | CA423309119 | USH2A | c.9396T>C (p.Ser3132=)
| gnomAD v4 |
| 1 | g.215817171A>T | CA423309122 | USH2A | c.9396T>A (p.Ser3132=)
| |
| 1 | g.215817172G>A | CA344825370 | USH2A | c.9395C>T (p.Ser3132Phe)
| |
| 1 | g.215817172G>C | CA1394320 | USH2A | c.9395C>G (p.Ser3132Cys)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215817172G= | CA1220434358 | USH2A | c.9395C= (p.Ser3132=)
| |
| 1 | g.215817172G>T | CA344825374 | USH2A | c.9395C>A (p.Ser3132Tyr)
| COSMIC COSMIC |
| 1 | g.215817173A= | CA1220434359 | USH2A | c.9394T= (p.Ser3132=)
| |
| 1 | g.215817173A>C | CA344825376 | USH2A | c.9394T>G (p.Ser3132Ala)
| |
| 1 | g.215817173A>G | CA344825381 | USH2A | c.9394T>C (p.Ser3132Pro)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817173A>T | CA344825385 | USH2A | c.9394T>A (p.Ser3132Thr)
| |
| 1 | g.215817174C>A | CA423309133 | USH2A | c.9393G>T (p.Val3131=)
| |
| 1 | g.215817174C= | CA1220434360 | USH2A | c.9393G= (p.Val3131=)
| |
| 1 | g.215817174C>G | CA423309135 | USH2A | c.9393G>C (p.Val3131=)
| |
| 1 | g.215817174C>T | CA1394321 | USH2A | c.9393G>A (p.Val3131=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817175A= | CA1148717261 | USH2A | c.9392T= (p.Val3131=)
| |
| 1 | g.215817175A>C | CA1394322 | USH2A | c.9392T>G (p.Val3131Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817175A>G | CA344825390 | USH2A | c.9392T>C (p.Val3131Ala)
| |
| 1 | g.215817175A>T | CA344825388 | USH2A | c.9392T>A (p.Val3131Glu)
| gnomAD v4 |
| 1 | g.215817176C>A | CA344825394 | USH2A | c.9391G>T (p.Val3131Leu)
| |
| 1 | g.215817176C= | CA1220434361 | USH2A | c.9391G= (p.Val3131=)
| |
| 1 | g.215817176C>G | CA1394323 | USH2A | c.9391G>C (p.Val3131Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817176C>T | CA344825397 | USH2A | c.9391G>A (p.Val3131Met)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817178dup | CA2499214473 | USH2A | c.9391dup (p.Val3131GlyfsTer14)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215817177C>A | CA344825402 | USH2A | c.9390G>T (p.Trp3130Cys)
| gnomAD v4 |
| 1 | g.215817177C= | CA1220434363 | USH2A | c.9390G= (p.Trp3130=)
| |
| 1 | g.215817177C>G | CA344825406 | USH2A | c.9390G>C (p.Trp3130Cys)
| |
| 1 | g.215817177C>T | CA10604657 | USH2A | c.9390G>A (p.Trp3130Ter)
| ClinVar dbSNP |
| 1 | g.215817177_215817181delinsCCAAT | CA1220434362 | USH2A | c.9386_9390delinsATTGG (p.Asp3129=)
| |
| 1 | g.215817178C>A | CA344825412 | USH2A | c.9389G>T (p.Trp3130Leu)
| ClinVar |
| 1 | g.215817178C>G | CA344825413 | USH2A | c.9389G>C (p.Trp3130Ser)
| |
| 1 | g.215817178C>T | CA344825416 | USH2A | c.9389G>A (p.Trp3130Ter)
| |
| 1 | g.215817178_215817185delinsCAATCAAT | CA1148730919 | USH2A | c.9382_9389delinsATTGATTG (p.Ile3128=)
| |
| 1 | g.215817182_215817185del | CA1394324 | USH2A | c.9386_9389del (p.Asp3129GlyfsTer30)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817179A= | CA1220434364 | USH2A | c.9388T= (p.Trp3130=)
| |
| 1 | g.215817179A>C | CA344825421 | USH2A | c.9388T>G (p.Trp3130Gly)
| ClinVar gnomAD v4 |
| 1 | g.215817179A>G | CA1394325 | USH2A | c.9388T>C (p.Trp3130Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817179A>T | CA344825423 | USH2A | c.9388T>A (p.Trp3130Arg)
| |
| 1 | g.215817180A= | CA1148423607 | USH2A | c.9387T= (p.Asp3129=)
| |
| 1 | g.215817180A>C | CA1394326 | USH2A | c.9387T>G (p.Asp3129Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817180A>G | CA423309154 | USH2A | c.9387T>C (p.Asp3129=)
| ClinVar dbSNP |
| 1 | g.215817180A>T | CA344825426 | USH2A | c.9387T>A (p.Asp3129Glu)
| |
| 1 | g.215817181T>A | CA344825428 | USH2A | c.9386A>T (p.Asp3129Val)
| |
| 1 | g.215817181T>C | CA344825429 | USH2A | c.9386A>G (p.Asp3129Gly)
| |
| 1 | g.215817181T>G | CA344825432 | USH2A | c.9386A>C (p.Asp3129Ala)
| |
| 1 | g.215817182C>A | CA344825436 | USH2A | c.9385G>T (p.Asp3129Tyr)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215817182C= | CA1220434365 | USH2A | c.9385G= (p.Asp3129=)
| |
| 1 | g.215817182C>G | CA344825440 | USH2A | c.9385G>C (p.Asp3129His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817182C>T | CA344825437 | USH2A | c.9385G>A (p.Asp3129Asn)
| COSMIC COSMIC |
| 1 | g.215817183A>C | CA344825443 | USH2A | c.9384T>G (p.Ile3128Met)
| |
| 1 | g.215817183A>G | CA423309164 | USH2A | c.9384T>C (p.Ile3128=)
| |
| 1 | g.215817183A>T | CA423309166 | USH2A | c.9384T>A (p.Ile3128=)
| |
| 1 | g.215817184A= | CA1220434366 | USH2A | c.9383T= (p.Ile3128=)
| |
| 1 | g.215817184A>C | CA344825446 | USH2A | c.9383T>G (p.Ile3128Ser)
| |
| 1 | g.215817184A>G | CA344825448 | USH2A | c.9383T>C (p.Ile3128Thr)
| |
| 1 | g.215817184A>T | CA344825449 | USH2A | c.9383T>A (p.Ile3128Asn)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817185T>A | CA344825451 | USH2A | c.9382A>T (p.Ile3128Phe)
| |
| 1 | g.215817185T>C | CA344825454 | USH2A | c.9382A>G (p.Ile3128Val)
| gnomAD v4 |
| 1 | g.215817185T>G | CA344825456 | USH2A | c.9382A>C (p.Ile3128Leu)
| |
| 1 | g.215817186T>A | CA344825459 | USH2A | c.9381A>T (p.Gln3127His)
| |
| 1 | g.215817186T>C | CA37428168 | USH2A | c.9381A>G (p.Gln3127=)
| ClinVar dbSNP |
| 1 | g.215817186T>G | CA344825464 | USH2A | c.9381A>C (p.Gln3127His)
| |
| 1 | g.215817186T= | CA1220434367 | USH2A | c.9381A= (p.Gln3127=)
| |
| 1 | g.215817187T>A | CA344825470 | USH2A | c.9380A>T (p.Gln3127Leu)
| |
| 1 | g.215817187T>C | CA344825471 | USH2A | c.9380A>G (p.Gln3127Arg)
| |
| 1 | g.215817187T>G | CA344825468 | USH2A | c.9380A>C (p.Gln3127Pro)
| |
| 1 | g.215817188G>A | CA344825472 | USH2A | c.9379C>T (p.Gln3127Ter)
| ClinVar |
| 1 | g.215817188G>C | CA344825473 | USH2A | c.9379C>G (p.Gln3127Glu)
| |
| 1 | g.215817188G>T | CA344825476 | USH2A | c.9379C>A (p.Gln3127Lys)
| |
| 1 | g.215817189A>C | CA423309190 | USH2A | c.9378T>G (p.Leu3126=)
| |
| 1 | g.215817189A>G | CA423309188 | USH2A | c.9378T>C (p.Leu3126=)
| ClinVar dbSNP |
| 1 | g.215817189A>T | CA423309186 | USH2A | c.9378T>A (p.Leu3126=)
| |
| 1 | g.215817190A>C | CA344825477 | USH2A | c.9377T>G (p.Leu3126Arg)
| |
| 1 | g.215817190A>G | CA344825484 | USH2A | c.9377T>C (p.Leu3126Pro)
| |
| 1 | g.215817190A>T | CA344825486 | USH2A | c.9377T>A (p.Leu3126His)
| |
| 1 | g.215817191G>A | CA344825489 | USH2A | c.9376C>T (p.Leu3126Phe)
| gnomAD v4 |
| 1 | g.215817191G>C | CA344825490 | USH2A | c.9376C>G (p.Leu3126Val)
| dbSNP |
| 1 | g.215817191G= | CA1220434368 | USH2A | c.9376C= (p.Leu3126=)
| |
| 1 | g.215817191G>T | CA344825493 | USH2A | c.9376C>A (p.Leu3126Ile)
| |
| 1 | g.215817192del | CA2586968195 | USH2A | c.9375del (p.Leu3126PhefsTer?)
| |
| 1 | g.215817192A>C | CA423309199 | USH2A | c.9375T>G (p.Ser3125=)
| |
| 1 | g.215817192A>G | CA423309200 | USH2A | c.9375T>C (p.Ser3125=)
| |
| 1 | g.215817192A>T | CA423309202 | USH2A | c.9375T>A (p.Ser3125=)
| COSMIC COSMIC |
| 1 | g.215817193G>A | CA344825496 | USH2A | c.9374C>T (p.Ser3125Phe)
| COSMIC COSMIC |
| 1 | g.215817193G>C | CA344825498 | USH2A | c.9374C>G (p.Ser3125Cys)
| |
| 1 | g.215817193G= | CA1220434369 | USH2A | c.9374C= (p.Ser3125=)
| |
| 1 | g.215817193G>T | CA1394327 | USH2A | c.9374C>A (p.Ser3125Tyr)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215817194A= | CA1220434370 | USH2A | c.9373T= (p.Ser3125=)
| |
| 1 | g.215817194A>C | CA344825509 | USH2A | c.9373T>G (p.Ser3125Ala)
| gnomAD v4 |
| 1 | g.215817194A>G | CA344825503 | USH2A | c.9373T>C (p.Ser3125Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817194A>T | CA344825505 | USH2A | c.9373T>A (p.Ser3125Thr)
| |
| 1 | g.215817195T>A | CA344825512 | USH2A | c.9372A>T (p.Arg3124Ser)
| |
| 1 | g.215817195T>C | CA1394328 | USH2A | c.9372A>G (p.Arg3124=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817195T>G | CA344825515 | USH2A | c.9372A>C (p.Arg3124Ser)
| |
| 1 | g.215817195T= | CA1220434371 | USH2A | c.9372A= (p.Arg3124=)
| |
| 1 | g.215817196C>A | CA344825519 | USH2A | c.9372-1G>T (n.9372-1G>T)
| COSMIC COSMIC |
| 1 | g.215817196C= | CA1220434372 | USH2A | c.9372-1G= (n.9372-1G=)
| |
| 1 | g.215817196C>G | CA344825522 | USH2A | c.9372-1G>C (n.9372-1G>C)
| |
| 1 | g.215817196C>T | CA344825524 | USH2A | c.9372-1G>A (n.9372-1G>A)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817196_215817200del | CA2747722478 | USH2A | c.9372-5_9372-1del (n.9372-5_9372-1del)
| |
| 1 | g.215817197T>A | CA344825526 | USH2A | c.9372-2A>T (n.9372-2A>T)
| |
| 1 | g.215817197T>C | CA344825528 | USH2A | c.9372-2A>G (n.9372-2A>G)
| |
| 1 | g.215817197T>G | CA344825530 | USH2A | c.9372-2A>C (n.9372-2A>C)
| |
| 1 | g.215817198G>A | CA529002415 | USH2A | c.9372-3C>T (n.9372-3C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817198G= | CA1220434373 | USH2A | c.9372-3C= (n.9372-3C=)
| |
| 1 | g.215817198G>T | CA1394329 | USH2A | c.9372-3C>A (n.9372-3C>A)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215817199C>A | CA1394330 | USH2A | c.9372-4G>T (n.9372-4G>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817199C= | CA1143386225 | USH2A | c.9372-4G= (n.9372-4G=)
| |
| 1 | g.215817199C>T | CA915942014 | USH2A | c.9372-4G>A (n.9372-4G>A)
| ClinVar dbSNP |
| 1 | g.215817200A= | CA1220434374 | USH2A | c.9372-5T= (n.9372-5T=)
| |
| 1 | g.215817200A>G | CA1394331 | USH2A | c.9372-5T>C (n.9372-5T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817202_215817203del | CA2573131607 | USH2A | c.9372-7_9372-6del (n.9372-7_9372-6del)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215817202C>G | CA2650528370 | USH2A | c.9372-7G>C (n.9372-7G>C)
| gnomAD v4 |
| 1 | g.215817203A= | CA1143445521 | USH2A | c.9372-8T= (n.9372-8T=)
| |
| 1 | g.215817203A>G | CA1394332 | USH2A | c.9372-8T>C (n.9372-8T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817204G= | CA1220434375 | USH2A | c.9372-9C= (n.9372-9C=)
| |
| 1 | g.215817204G>T | CA529002416 | USH2A | c.9372-9C>A (n.9372-9C>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817205A>G | CA2541151355 | USH2A | c.9372-10T>C (n.9372-10T>C)
| |
| 1 | g.215817206G>A | CA1394333 | USH2A | c.9372-11C>T (n.9372-11C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817206G>C | CA1220434377 | USH2A | c.9372-11C>G (n.9372-11C>G)
| dbSNP gnomAD v4 |
| 1 | g.215817206G= | CA1220434376 | USH2A | c.9372-11C= (n.9372-11C=)
| |
| 1 | g.215817207A>C | CA2697554882 | USH2A | c.9372-12T>G (n.9372-12T>G)
| ClinVar |
| 1 | g.215817209A= | CA1220434378 | USH2A | c.9372-14T= (n.9372-14T=)
| |
| 1 | g.215817209A>C | CA2574002056 | USH2A | c.9372-14T>G (n.9372-14T>G)
| gnomAD v4 |
| 1 | g.215817209A>G | CA646411472 | USH2A | c.9372-14T>C (n.9372-14T>C)
| COSMIC |
| 1 | g.215817209A>T | CA529002417 | USH2A | c.9372-14T>A (n.9372-14T>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817211T>C | CA2650528371 | USH2A | c.9372-16A>G (n.9372-16A>G)
| gnomAD v4 |
| 1 | g.215817213A>G | CA2650528372 | USH2A | c.9372-18T>C (n.9372-18T>C)
| gnomAD v4 |
| 1 | g.215817214T>C | CA529002418 | USH2A | c.9372-19A>G (n.9372-19A>G)
| dbSNP gnomAD v2 |
| 1 | g.215817214T= | CA1220434379 | USH2A | c.9372-19A= (n.9372-19A=)
| |
| 1 | g.215817217A= | CA1220434380 | USH2A | c.9372-22T= (n.9372-22T=)
| |
| 1 | g.215817217A>G | CA1220434381 | USH2A | c.9372-22T>C (n.9372-22T>C)
| dbSNP gnomAD v4 |
| 1 | g.215817217A>T | CA2574002061 | USH2A | c.9372-22T>A (n.9372-22T>A)
| gnomAD v4 |
| 1 | g.215817220C>T | CA2650528373 | USH2A | c.9372-25G>A (n.9372-25G>A)
| gnomAD v4 |
| 1 | g.215817220_215817221insACA | CA2747722479 | USH2A | c.9372-26_9372-25insTGT (n.9372-26_9372-25insTGT)
| |
| 1 | g.215817221_215817230del | CA2747722480 | USH2A | c.9372-35_9372-26del (n.9372-35_9372-26del)
| |
| 1 | g.215817221_215817222insACA | CA2747722481 | USH2A | c.9372-27_9372-26insTGT (n.9372-27_9372-26insTGT)
| |
| 1 | g.215817223C= | CA1220434382 | USH2A | c.9372-28G= (n.9372-28G=)
| |
| 1 | g.215817223C>T | CA37428185 | USH2A | c.9372-28G>A (n.9372-28G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817224_215817228del | CA2747722482 | USH2A | c.9372-33_9372-29del (n.9372-33_9372-29del)
| |
| 1 | g.215817225G>C | CA2650528374 | USH2A | c.9372-30C>G (n.9372-30C>G)
| gnomAD v4 |
| 1 | g.215817225_215817226delinsGA | CA1220434383 | USH2A | c.9372-31_9372-30delinsTC (n.9372-31_9372-30delinsTC)
| |
| 1 | g.215817229del | CA1394334 | USH2A | c.9372-31del (n.9372-31del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817228A= | CA1220434384 | USH2A | c.9372-33T= (n.9372-33T=)
| |
| 1 | g.215817228A>T | CA528709815 | USH2A | c.9372-33T>A (n.9372-33T>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817228_215817234del | CA2747722483 | USH2A | c.9372-39_9372-33del (n.9372-39_9372-33del)
| |
| 1 | g.215817230G>A | CA2574002105 | USH2A | c.9372-35C>T (n.9372-35C>T)
| |
| 1 | g.215817230G>T | CA2574002104 | USH2A | c.9372-35C>A (n.9372-35C>A)
| gnomAD v4 |
| 1 | g.215817231A>T | CA2747722484 | USH2A | c.9372-36T>A (n.9372-36T>A)
| |
| 1 | g.215817232C>T | CA2698106724 | USH2A | c.9372-37G>A (n.9372-37G>A)
| dbSNP |
| 1 | g.215817233A= | CA1220434385 | USH2A | c.9372-38T= (n.9372-38T=)
| |
| 1 | g.215817233A>G | CA37428188 | USH2A | c.9372-38T>C (n.9372-38T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817234C>A | CA528709816 | USH2A | c.9372-39G>T (n.9372-39G>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817234C= | CA1220434386 | USH2A | c.9372-39G= (n.9372-39G=)
| |
| 1 | g.215817235T>C | CA2650528375 | USH2A | c.9372-40A>G (n.9372-40A>G)
| gnomAD v4 |
| 1 | g.215817235_215817240del | CA2747722486 | USH2A | c.9372-45_9372-40del (n.9372-45_9372-40del)
| |
| 1 | g.215817237_215817240del | CA2747722485 | USH2A | c.9372-43_9372-40del (n.9372-43_9372-40del)
| |
| 1 | g.215817236dup | CA2747722487 | USH2A | c.9372-41dup (n.9372-41dup)
| |
| 1 | g.215817236_215817249del | CA2747722488 | USH2A | c.9372-54_9372-41del (n.9372-54_9372-41del)
| |
| 1 | g.215817237T>C | CA2650528376 | USH2A | c.9372-42A>G (n.9372-42A>G)
| gnomAD v4 |
| 1 | g.215817239_215817240del | CA2747722489 | USH2A | c.9372-45_9372-44del (n.9372-45_9372-44del)
| |
| 1 | g.215817240A= | CA1220434387 | USH2A | c.9372-45T= (n.9372-45T=)
| |
| 1 | g.215817240A>T | CA1394335 | USH2A | c.9372-45T>A (n.9372-45T>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817242C>A | CA2650528377 | USH2A | c.9372-47G>T (n.9372-47G>T)
| gnomAD v4 |
| 1 | g.215817242C>G | CA2574002110 | USH2A | c.9372-47G>C (n.9372-47G>C)
| gnomAD v4 |
| 1 | g.215817242C>T | CA2574002191 | USH2A | c.9372-47G>A (n.9372-47G>A)
| gnomAD v4 |
| 1 | g.215817244T>C | CA1220434389 | USH2A | c.9372-49A>G (n.9372-49A>G)
| dbSNP gnomAD v4 |
| 1 | g.215817244T= | CA1220434388 | USH2A | c.9372-49A= (n.9372-49A=)
| |
