| 1 | g.215728253_215728368dup | CA2650501610 | USH2A | c.11729_11844dup (p.Gly3949LysfsTer23)
| gnomAD v4 |
| 1 | g.215728283T>A | CA344829213 | USH2A | c.11813A>T (p.Tyr3938Phe)
| |
| 1 | g.215728283T>C | CA344829216 | USH2A | c.11813A>G (p.Tyr3938Cys)
| ClinVar |
| 1 | g.215728283T>G | CA344829210 | USH2A | c.11813A>C (p.Tyr3938Ser)
| |
| 1 | g.215728283_215728285delinsTAG | CA1220396558 | USH2A | c.11811_11813delinsCTA (p.Leu3937=)
| |
| 1 | g.215728284A= | CA1220396559 | USH2A | c.11812T= (p.Tyr3938=)
| |
| 1 | g.215728284A>C | CA344829230 | USH2A | c.11812T>G (p.Tyr3938Asp)
| |
| 1 | g.215728284A>G | CA1393616 | USH2A | c.11812T>C (p.Tyr3938His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728284A>T | CA344829233 | USH2A | c.11812T>A (p.Tyr3938Asn)
| |
| 1 | g.215728286_215728287del | CA731342103 | USH2A | c.11811_11812del (p.Tyr3938ArgfsTer8)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215728285G>A | CA423430099 | USH2A | c.11811C>T (p.Leu3937=)
| |
| 1 | g.215728285G>C | CA423430100 | USH2A | c.11811C>G (p.Leu3937=)
| |
| 1 | g.215728285G>T | CA423430101 | USH2A | c.11811C>A (p.Leu3937=)
| |
| 1 | g.215728286A>C | CA344829244 | USH2A | c.11810T>G (p.Leu3937Arg)
| |
| 1 | g.215728286A>G | CA344829247 | USH2A | c.11810T>C (p.Leu3937Pro)
| |
| 1 | g.215728286A>T | CA344829251 | USH2A | c.11810T>A (p.Leu3937His)
| |
| 1 | g.215728287G>A | CA344829253 | USH2A | c.11809C>T (p.Leu3937Phe)
| gnomAD v4 |
| 1 | g.215728287G>C | CA344829256 | USH2A | c.11809C>G (p.Leu3937Val)
| |
| 1 | g.215728287G>T | CA344829260 | USH2A | c.11809C>A (p.Leu3937Ile)
| |
| 1 | g.215728288T>A | CA423430102 | USH2A | c.11808A>T (p.Thr3936=)
| |
| 1 | g.215728288T>C | CA423430103 | USH2A | c.11808A>G (p.Thr3936=)
| |
| 1 | g.215728288T>G | CA423430104 | USH2A | c.11808A>C (p.Thr3936=)
| |
| 1 | g.215728289G>A | CA1393617 | USH2A | c.11807C>T (p.Thr3936Ile)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215728289G>C | CA344829265 | USH2A | c.11807C>G (p.Thr3936Arg)
| |
| 1 | g.215728289G= | CA1220396560 | USH2A | c.11807C= (p.Thr3936=)
| |
| 1 | g.215728289G>T | CA344829275 | USH2A | c.11807C>A (p.Thr3936Lys)
| |
| 1 | g.215728290T>A | CA344829282 | USH2A | c.11806A>T (p.Thr3936Ser)
| |
| 1 | g.215728290T>C | CA344829286 | USH2A | c.11806A>G (p.Thr3936Ala)
| |
| 1 | g.215728290T>G | CA344829290 | USH2A | c.11806A>C (p.Thr3936Pro)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215728291G>A | CA423430105 | USH2A | c.11805C>T (p.Phe3935=)
| |
| 1 | g.215728291G>C | CA344829301 | USH2A | c.11805C>G (p.Phe3935Leu)
| |
| 1 | g.215728291G= | CA1220396561 | USH2A | c.11805C= (p.Phe3935=)
| |
| 1 | g.215728291G>T | CA1393618 | USH2A | c.11805C>A (p.Phe3935Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728292A>C | CA344829309 | USH2A | c.11804T>G (p.Phe3935Cys)
| |
| 1 | g.215728292A>G | CA344829314 | USH2A | c.11804T>C (p.Phe3935Ser)
| |
| 1 | g.215728292A>T | CA344829312 | USH2A | c.11804T>A (p.Phe3935Tyr)
| |
| 1 | g.215728293A= | CA1220396562 | USH2A | c.11803T= (p.Phe3935=)
| |
| 1 | g.215728293A>C | CA344829317 | USH2A | c.11803T>G (p.Phe3935Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728293A>G | CA344829323 | USH2A | c.11803T>C (p.Phe3935Leu)
| |
| 1 | g.215728293A>T | CA344829330 | USH2A | c.11803T>A (p.Phe3935Ile)
| |
| 1 | g.215728294A>C | CA423430106 | USH2A | c.11802T>G (p.Pro3934=)
| |
| 1 | g.215728294A>G | CA423430107 | USH2A | c.11802T>C (p.Pro3934=)
| |
| 1 | g.215728294A>T | CA423430108 | USH2A | c.11802T>A (p.Pro3934=)
| |
| 1 | g.215728295G>A | CA344829332 | USH2A | c.11801C>T (p.Pro3934Leu)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215728295G>C | CA344829334 | USH2A | c.11801C>G (p.Pro3934Arg)
| |
| 1 | g.215728295G>T | CA344829337 | USH2A | c.11801C>A (p.Pro3934His)
| |
| 1 | g.215728296G>A | CA344829338 | USH2A | c.11800C>T (p.Pro3934Ser)
| COSMIC |
| 1 | g.215728296G>C | CA344829339 | USH2A | c.11800C>G (p.Pro3934Ala)
| |
| 1 | g.215728296G>T | CA344829340 | USH2A | c.11800C>A (p.Pro3934Thr)
| |
| 1 | g.215728297C>A | CA344829341 | USH2A | c.11799G>T (p.Arg3933Ser)
| |
| 1 | g.215728297C>G | CA344829342 | USH2A | c.11799G>C (p.Arg3933Ser)
| |
| 1 | g.215728297C>T | CA423430109 | USH2A | c.11799G>A (p.Arg3933=)
| |
| 1 | g.215728300_215728312del | CA2695199988 | USH2A | c.11787_11799del (p.Asp3930LeufsTer24)
| ClinVar |
| 1 | g.215728298C>A | CA344829343 | USH2A | c.11798G>T (p.Arg3933Met)
| |
| 1 | g.215728298C= | CA1220396563 | USH2A | c.11798G= (p.Arg3933=)
| |
| 1 | g.215728298C>G | CA344829354 | USH2A | c.11798G>C (p.Arg3933Thr)
| |
| 1 | g.215728298C>T | CA344829346 | USH2A | c.11798G>A (p.Arg3933Lys)
| dbSNP |
| 1 | g.215728299T>A | CA344829355 | USH2A | c.11797A>T (p.Arg3933Trp)
| |
| 1 | g.215728299T>C | CA344829363 | USH2A | c.11797A>G (p.Arg3933Gly)
| |
| 1 | g.215728299T>G | CA423430110 | USH2A | c.11797A>C (p.Arg3933=)
| |
| 1 | g.215728300C>A | CA423430111 | USH2A | c.11796G>T (p.Leu3932=)
| |
| 1 | g.215728300C= | CA1220396564 | USH2A | c.11796G= (p.Leu3932=)
| |
| 1 | g.215728300C>G | CA423430112 | USH2A | c.11796G>C (p.Leu3932=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728300C>T | CA423430113 | USH2A | c.11796G>A (p.Leu3932=)
| |
| 1 | g.215728301A>C | CA344829365 | USH2A | c.11795T>G (p.Leu3932Arg)
| |
| 1 | g.215728301A>G | CA344829371 | USH2A | c.11795T>C (p.Leu3932Pro)
| |
| 1 | g.215728301A>T | CA344829372 | USH2A | c.11795T>A (p.Leu3932Gln)
| |
| 1 | g.215728302G>A | CA143269 | USH2A | c.11794C>T (p.Leu3932=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728302G>C | CA344829373 | USH2A | c.11794C>G (p.Leu3932Val)
| |
| 1 | g.215728302G= | CA1141189291 | USH2A | c.11794C= (p.Leu3932=)
| |
| 1 | g.215728302G>T | CA344829377 | USH2A | c.11794C>A (p.Leu3932Met)
| |
| 1 | g.215728303G>A | CA423430114 | USH2A | c.11793C>T (p.Thr3931=)
| ClinVar dbSNP |
| 1 | g.215728303G>C | CA423430115 | USH2A | c.11793C>G (p.Thr3931=)
| ClinVar |
| 1 | g.215728303G>T | CA423430116 | USH2A | c.11793C>A (p.Thr3931=)
| |
| 1 | g.215728304G>A | CA1393619 | USH2A | c.11792C>T (p.Thr3931Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728304G>C | CA344829382 | USH2A | c.11792C>G (p.Thr3931Ser)
| |
| 1 | g.215728304G= | CA1220396565 | USH2A | c.11792C= (p.Thr3931=)
| |
| 1 | g.215728304G>T | CA344829388 | USH2A | c.11792C>A (p.Thr3931Asn)
| |
| 1 | g.215728305T>A | CA344829398 | USH2A | c.11791A>T (p.Thr3931Ser)
| |
| 1 | g.215728305T>C | CA344829397 | USH2A | c.11791A>G (p.Thr3931Ala)
| COSMIC COSMIC |
| 1 | g.215728305T>G | CA344829389 | USH2A | c.11791A>C (p.Thr3931Pro)
| |
| 1 | g.215728306G>A | CA1393620 | USH2A | c.11790C>T (p.Asp3930=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728306G>C | CA344829402 | USH2A | c.11790C>G (p.Asp3930Glu)
| |
| 1 | g.215728306G= | CA1220396566 | USH2A | c.11790C= (p.Asp3930=)
| |
| 1 | g.215728306G>T | CA344829403 | USH2A | c.11790C>A (p.Asp3930Glu)
| |
| 1 | g.215728307T>A | CA344829404 | USH2A | c.11789A>T (p.Asp3930Val)
| dbSNP |
| 1 | g.215728307T>C | CA344829405 | USH2A | c.11789A>G (p.Asp3930Gly)
| |
| 1 | g.215728307T>G | CA344829406 | USH2A | c.11789A>C (p.Asp3930Ala)
| |
| 1 | g.215728307T= | CA1220396567 | USH2A | c.11789A= (p.Asp3930=)
| |
| 1 | g.215728309_215728334del | CA2586968151 | USH2A | c.11764_11789del (p.Ala3922HisfsTer16)
| |
| 1 | g.215728308C>A | CA344829408 | USH2A | c.11788G>T (p.Asp3930Tyr)
| |
| 1 | g.215728308C>G | CA344829411 | USH2A | c.11788G>C (p.Asp3930His)
| |
| 1 | g.215728308C>T | CA344829412 | USH2A | c.11788G>A (p.Asp3930Asn)
| |
| 1 | g.215728309T>A | CA423430117 | USH2A | c.11787A>T (p.Gly3929=)
| |
| 1 | g.215728309T>C | CA423430118 | USH2A | c.11787A>G (p.Gly3929=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215728309T>G | CA423430119 | USH2A | c.11787A>C (p.Gly3929=)
| |
| 1 | g.215728309T= | CA1220396568 | USH2A | c.11787A= (p.Gly3929=)
| |
| 1 | g.215728310C>A | CA344829414 | USH2A | c.11786G>T (p.Gly3929Val)
| |
| 1 | g.215728310C= | CA1220396569 | USH2A | c.11786G= (p.Gly3929=)
| |
| 1 | g.215728310C>G | CA344829416 | USH2A | c.11786G>C (p.Gly3929Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728310C>T | CA344829417 | USH2A | c.11786G>A (p.Gly3929Glu)
| |
| 1 | g.215728310_215728313delinsCCTT | CA1220396570 | USH2A | c.11783_11786delinsAAGG (p.Glu3928=)
| |
| 1 | g.215728311C>A | CA344829422 | USH2A | c.11785G>T (p.Gly3929Ter)
| |
| 1 | g.215728311C>G | CA344829425 | USH2A | c.11785G>C (p.Gly3929Arg)
| |
| 1 | g.215728311C>T | CA344829421 | USH2A | c.11785G>A (p.Gly3929Arg)
| |
| 1 | g.215728312_215728314del | CA1220396571 | USH2A | c.11783_11785del (p.Glu3928del)
| dbSNP |
| 1 | g.215728312T>A | CA344829429 | USH2A | c.11784A>T (p.Glu3928Asp)
| ClinVar dbSNP |
| 1 | g.215728312T>C | CA423430120 | USH2A | c.11784A>G (p.Glu3928=)
| gnomAD v4 |
| 1 | g.215728312T>G | CA344829431 | USH2A | c.11784A>C (p.Glu3928Asp)
| |
| 1 | g.215728312T= | CA1220396572 | USH2A | c.11784A= (p.Glu3928=)
| |
| 1 | g.215728313T>A | CA344829434 | USH2A | c.11783A>T (p.Glu3928Val)
| |
| 1 | g.215728313T>C | CA344829437 | USH2A | c.11783A>G (p.Glu3928Gly)
| |
| 1 | g.215728313T>G | CA344829441 | USH2A | c.11783A>C (p.Glu3928Ala)
| |
| 1 | g.215728314C>A | CA344829446 | USH2A | c.11782G>T (p.Glu3928Ter)
| |
| 1 | g.215728314C>G | CA344829448 | USH2A | c.11782G>C (p.Glu3928Gln)
| |
| 1 | g.215728314C>T | CA344829453 | USH2A | c.11782G>A (p.Glu3928Lys)
| COSMIC COSMIC |
| 1 | g.215728315A>C | CA344829456 | USH2A | c.11781T>G (p.Asp3927Glu)
| |
| 1 | g.215728315A>G | CA423430121 | USH2A | c.11781T>C (p.Asp3927=)
| |
| 1 | g.215728315A>T | CA344829464 | USH2A | c.11781T>A (p.Asp3927Glu)
| gnomAD v4 |
| 1 | g.215728316T>A | CA344829467 | USH2A | c.11780A>T (p.Asp3927Val)
| |
| 1 | g.215728316T>C | CA344829469 | USH2A | c.11780A>G (p.Asp3927Gly)
| |
| 1 | g.215728316T>G | CA344829472 | USH2A | c.11780A>C (p.Asp3927Ala)
| |
| 1 | g.215728317C>A | CA344829480 | USH2A | c.11779G>T (p.Asp3927Tyr)
| |
| 1 | g.215728317C>G | CA344829476 | USH2A | c.11779G>C (p.Asp3927His)
| |
| 1 | g.215728317C>T | CA344829475 | USH2A | c.11779G>A (p.Asp3927Asn)
| |
| 1 | g.215728318C>A | CA344829484 | USH2A | c.11778G>T (p.Met3926Ile)
| |
| 1 | g.215728318C>G | CA344829486 | USH2A | c.11778G>C (p.Met3926Ile)
| |
| 1 | g.215728318C>T | CA344829488 | USH2A | c.11778G>A (p.Met3926Ile)
| |
| 1 | g.215728319A>C | CA344829490 | USH2A | c.11777T>G (p.Met3926Arg)
| |
| 1 | g.215728319A>G | CA344829491 | USH2A | c.11777T>C (p.Met3926Thr)
| dbSNP gnomAD v4 |
| 1 | g.215728319A>T | CA344829495 | USH2A | c.11777T>A (p.Met3926Lys)
| gnomAD v4 |
| 1 | g.215728320T>A | CA344829503 | USH2A | c.11776A>T (p.Met3926Leu)
| |
| 1 | g.215728320T>C | CA344829507 | USH2A | c.11776A>G (p.Met3926Val)
| |
| 1 | g.215728320T>G | CA344829509 | USH2A | c.11776A>C (p.Met3926Leu)
| |
| 1 | g.215728321A= | CA1220396573 | USH2A | c.11775T= (p.Phe3925=)
| |
| 1 | g.215728321A>C | CA344829511 | USH2A | c.11775T>G (p.Phe3925Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728321A>G | CA423430122 | USH2A | c.11775T>C (p.Phe3925=)
| |
| 1 | g.215728321A>T | CA344829513 | USH2A | c.11775T>A (p.Phe3925Leu)
| |
| 1 | g.215728322A= | CA1220396574 | USH2A | c.11774T= (p.Phe3925=)
| |
| 1 | g.215728322A>C | CA344829516 | USH2A | c.11774T>G (p.Phe3925Cys)
| |
| 1 | g.215728322A>G | CA344829519 | USH2A | c.11774T>C (p.Phe3925Ser)
| |
| 1 | g.215728322A>T | CA37395551 | USH2A | c.11774T>A (p.Phe3925Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728323A>C | CA344829524 | USH2A | c.11773T>G (p.Phe3925Val)
| |
| 1 | g.215728323A>G | CA344829526 | USH2A | c.11773T>C (p.Phe3925Leu)
| |
| 1 | g.215728323A>T | CA344829523 | USH2A | c.11773T>A (p.Phe3925Ile)
| |
| 1 | g.215728324T>A | CA344829528 | USH2A | c.11772A>T (p.Glu3924Asp)
| |
| 1 | g.215728324T>C | CA423430123 | USH2A | c.11772A>G (p.Glu3924=)
| |
| 1 | g.215728324T>G | CA344829529 | USH2A | c.11772A>C (p.Glu3924Asp)
| |
| 1 | g.215728325T>A | CA344829530 | USH2A | c.11771A>T (p.Glu3924Val)
| |
| 1 | g.215728325T>C | CA344829533 | USH2A | c.11771A>G (p.Glu3924Gly)
| |
| 1 | g.215728325T>G | CA344829538 | USH2A | c.11771A>C (p.Glu3924Ala)
| |
| 1 | g.215728326C>A | CA344829550 | USH2A | c.11770G>T (p.Glu3924Ter)
| ClinVar |
| 1 | g.215728326C= | CA1220396575 | USH2A | c.11770G= (p.Glu3924=)
| |
| 1 | g.215728326C>G | CA344829548 | USH2A | c.11770G>C (p.Glu3924Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728326C>T | CA344829541 | USH2A | c.11770G>A (p.Glu3924Lys)
| COSMIC COSMIC |
| 1 | g.215728327A>C | CA423430124 | USH2A | c.11769T>G (p.Leu3923=)
| |
| 1 | g.215728327A>G | CA423430125 | USH2A | c.11769T>C (p.Leu3923=)
| |
| 1 | g.215728327A>T | CA423430126 | USH2A | c.11769T>A (p.Leu3923=)
| |
| 1 | g.215728328A>C | CA344829551 | USH2A | c.11768T>G (p.Leu3923Arg)
| |
| 1 | g.215728328A>G | CA344829558 | USH2A | c.11768T>C (p.Leu3923Pro)
| |
| 1 | g.215728328A>T | CA344829559 | USH2A | c.11768T>A (p.Leu3923His)
| |
| 1 | g.215728329G>A | CA344829563 | USH2A | c.11767C>T (p.Leu3923Phe)
| |
| 1 | g.215728329G>C | CA344829565 | USH2A | c.11767C>G (p.Leu3923Val)
| |
| 1 | g.215728329G>T | CA344829568 | USH2A | c.11767C>A (p.Leu3923Ile)
| |
| 1 | g.215728330G>A | CA423430127 | USH2A | c.11766C>T (p.Ala3922=)
| ClinVar gnomAD v4 |
| 1 | g.215728330G>C | CA423430128 | USH2A | c.11766C>G (p.Ala3922=)
| |
| 1 | g.215728330G>T | CA423430129 | USH2A | c.11766C>A (p.Ala3922=)
| ClinVar dbSNP |
| 1 | g.215728331G>A | CA344829575 | USH2A | c.11765C>T (p.Ala3922Val)
| |
| 1 | g.215728331G>C | CA344829580 | USH2A | c.11765C>G (p.Ala3922Gly)
| |
| 1 | g.215728331G>T | CA344829577 | USH2A | c.11765C>A (p.Ala3922Asp)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215728332C>A | CA1393621 | USH2A | c.11764G>T (p.Ala3922Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728332C= | CA1148275560 | USH2A | c.11764G= (p.Ala3922=)
| |
| 1 | g.215728332C>G | CA344829581 | USH2A | c.11764G>C (p.Ala3922Pro)
| |
| 1 | g.215728332C>T | CA1393622 | USH2A | c.11764G>A (p.Ala3922Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728333T>A | CA423430130 | USH2A | c.11763A>T (p.Gly3921=)
| |
| 1 | g.215728333T>C | CA423430131 | USH2A | c.11763A>G (p.Gly3921=)
| dbSNP gnomAD v4 |
| 1 | g.215728333T>G | CA423430132 | USH2A | c.11763A>C (p.Gly3921=)
| |
| 1 | g.215728333T= | CA1220396576 | USH2A | c.11763A= (p.Gly3921=)
| |
| 1 | g.215728335_215728338del | CA2650501677 | USH2A | c.11760_11763del (p.Gly3921ProfsTer11)
| gnomAD v4 |
| 1 | g.215728334C>A | CA344829582 | USH2A | c.11762G>T (p.Gly3921Val)
| |
| 1 | g.215728334C= | CA1220396577 | USH2A | c.11762G= (p.Gly3921=)
| |
| 1 | g.215728334C>G | CA344829584 | USH2A | c.11762G>C (p.Gly3921Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728334C>T | CA344829590 | USH2A | c.11762G>A (p.Gly3921Glu)
| ClinVar gnomAD v4 |
| 1 | g.215728334_215728335insAGTGGAGAGTCTGTGGTCATTAACA | CA2552179869 | USH2A | c.11761_11762insTGTTAATGACCACAGACTCTCCACT (p.Gly3921ValfsTer12)
| |
| 1 | g.215728335C>A | CA344829593 | USH2A | c.11761G>T (p.Gly3921Ter)
| |
| 1 | g.215728335C>G | CA344829596 | USH2A | c.11761G>C (p.Gly3921Arg)
| |
| 1 | g.215728335C>T | CA344829598 | USH2A | c.11761G>A (p.Gly3921Arg)
| |
| 1 | g.215728336T>A | CA344829600 | USH2A | c.11760A>T (p.Glu3920Asp)
| |
| 1 | g.215728336T>C | CA423430133 | USH2A | c.11760A>G (p.Glu3920=)
| |
| 1 | g.215728336T>G | CA344829613 | USH2A | c.11760A>C (p.Glu3920Asp)
| |
| 1 | g.215728337T>A | CA344829619 | USH2A | c.11759A>T (p.Glu3920Val)
| |
| 1 | g.215728337T>C | CA344829620 | USH2A | c.11759A>G (p.Glu3920Gly)
| |
| 1 | g.215728337T>G | CA344829618 | USH2A | c.11759A>C (p.Glu3920Ala)
| |
| 1 | g.215728338C>A | CA344829622 | USH2A | c.11758G>T (p.Glu3920Ter)
| |
| 1 | g.215728338C>G | CA344829621 | USH2A | c.11758G>C (p.Glu3920Gln)
| |
| 1 | g.215728338C>T | CA344829623 | USH2A | c.11758G>A (p.Glu3920Lys)
| |
| 1 | g.215728339T>A | CA1393623 | USH2A | c.11757A>T (p.Ser3919=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728339T>C | CA423430138 | USH2A | c.11757A>G (p.Ser3919=)
| |
| 1 | g.215728339T>G | CA423430134 | USH2A | c.11757A>C (p.Ser3919=)
| |
| 1 | g.215728339T= | CA1220396578 | USH2A | c.11757A= (p.Ser3919=)
| |
| 1 | g.215728340G>A | CA344829629 | USH2A | c.11756C>T (p.Ser3919Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728340G>C | CA344829626 | USH2A | c.11756C>G (p.Ser3919Ter)
| ClinVar dbSNP |
| 1 | g.215728340G= | CA1220396579 | USH2A | c.11756C= (p.Ser3919=)
| |
| 1 | g.215728340G>T | CA344829632 | USH2A | c.11756C>A (p.Ser3919Ter)
| gnomAD v4 |
| 1 | g.215728341A>C | CA344829637 | USH2A | c.11755T>G (p.Ser3919Ala)
| |
| 1 | g.215728341A>G | CA344829639 | USH2A | c.11755T>C (p.Ser3919Pro)
| |
| 1 | g.215728341A>T | CA344829642 | USH2A | c.11755T>A (p.Ser3919Thr)
| |
| 1 | g.215728342C>A | CA344829644 | USH2A | c.11754G>T (p.Trp3918Cys)
| |
| 1 | g.215728342C= | CA1220396580 | USH2A | c.11754G= (p.Trp3918=)
| |
| 1 | g.215728342C>G | CA344829647 | USH2A | c.11754G>C (p.Trp3918Cys)
| |
| 1 | g.215728342C>T | CA344829667 | USH2A | c.11754G>A (p.Trp3918Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728343C>A | CA344829677 | USH2A | c.11753G>T (p.Trp3918Leu)
| |
| 1 | g.215728343C>G | CA344829679 | USH2A | c.11753G>C (p.Trp3918Ser)
| |
| 1 | g.215728343C>T | CA344829681 | USH2A | c.11753G>A (p.Trp3918Ter)
| |
| 1 | g.215728345_215728348del | CA2586968152 | USH2A | c.11750_11753del (p.Val3917GlyfsTer15)
| |
| 1 | g.215728344A= | CA1220396581 | USH2A | c.11752T= (p.Trp3918=)
| |
| 1 | g.215728344A>C | CA344829682 | USH2A | c.11752T>G (p.Trp3918Gly)
| |
| 1 | g.215728344A>G | CA37395567 | USH2A | c.11752T>C (p.Trp3918Arg)
| dbSNP gnomAD v4 |
| 1 | g.215728344A>T | CA344829683 | USH2A | c.11752T>A (p.Trp3918Arg)
| |
| 1 | g.215728345G>A | CA423430151 | USH2A | c.11751C>T (p.Val3917=)
| |
| 1 | g.215728345G>C | CA423430147 | USH2A | c.11751C>G (p.Val3917=)
| ClinVar gnomAD v4 |
| 1 | g.215728345G>T | CA423430149 | USH2A | c.11751C>A (p.Val3917=)
| |
| 1 | g.215728346A>C | CA344829690 | USH2A | c.11750T>G (p.Val3917Gly)
| |
| 1 | g.215728346A>G | CA344829685 | USH2A | c.11750T>C (p.Val3917Ala)
| |
| 1 | g.215728346A>T | CA344829688 | USH2A | c.11750T>A (p.Val3917Asp)
| |
| 1 | g.215728347C>A | CA1393624 | USH2A | c.11749G>T (p.Val3917Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728347C= | CA1149066208 | USH2A | c.11749G= (p.Val3917=)
| |
| 1 | g.215728347C>G | CA344829700 | USH2A | c.11749G>C (p.Val3917Leu)
| |
| 1 | g.215728347C>T | CA344829701 | USH2A | c.11749G>A (p.Val3917Ile)
| gnomAD v4 |
| 1 | g.215728348A>C | CA344829705 | USH2A | c.11748T>G (p.Phe3916Leu)
| |
| 1 | g.215728348A>G | CA423430156 | USH2A | c.11748T>C (p.Phe3916=)
| |
| 1 | g.215728348A>T | CA344829716 | USH2A | c.11748T>A (p.Phe3916Leu)
| |
| 1 | g.215728351_215728354del | CA2573131560 | USH2A | c.11745_11748del (p.Phe3916SerfsTer16)
| ClinVar dbSNP |
| 1 | g.215728349A>C | CA344829724 | USH2A | c.11747T>G (p.Phe3916Cys)
| |
| 1 | g.215728349A>G | CA344829725 | USH2A | c.11747T>C (p.Phe3916Ser)
| |
| 1 | g.215728349A>T | CA344829729 | USH2A | c.11747T>A (p.Phe3916Tyr)
| |
| 1 | g.215728350A>C | CA344829736 | USH2A | c.11746T>G (p.Phe3916Val)
| |
| 1 | g.215728350A>G | CA344829738 | USH2A | c.11746T>C (p.Phe3916Leu)
| gnomAD v4 |
| 1 | g.215728350A>T | CA344829741 | USH2A | c.11746T>A (p.Phe3916Ile)
| |
| 1 | g.215728351T>A | CA344829748 | USH2A | c.11745A>T (p.Leu3915Phe)
| |
| 1 | g.215728351T>C | CA423430160 | USH2A | c.11745A>G (p.Leu3915=)
| |
| 1 | g.215728351T>G | CA344829747 | USH2A | c.11745A>C (p.Leu3915Phe)
| |
| 1 | g.215728352A>C | CA344829749 | USH2A | c.11744T>G (p.Leu3915Ter)
| |
| 1 | g.215728352A>G | CA344829750 | USH2A | c.11744T>C (p.Leu3915Ser)
| |
| 1 | g.215728352A>T | CA344829751 | USH2A | c.11744T>A (p.Leu3915Ter)
| |
| 1 | g.215728353A= | CA1220396582 | USH2A | c.11743T= (p.Leu3915=)
| |
| 1 | g.215728353A>C | CA344829752 | USH2A | c.11743T>G (p.Leu3915Val)
| |
| 1 | g.215728353A>G | CA423430163 | USH2A | c.11743T>C (p.Leu3915=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728353A>T | CA344829753 | USH2A | c.11743T>A (p.Leu3915Ile)
| |
| 1 | g.215728354A>C | CA423430164 | USH2A | c.11742T>G (p.Val3914=)
| |
| 1 | g.215728354A>G | CA423430165 | USH2A | c.11742T>C (p.Val3914=)
| |
| 1 | g.215728354A>T | CA423430166 | USH2A | c.11742T>A (p.Val3914=)
| |
| 1 | g.215728355A= | CA1220396583 | USH2A | c.11741T= (p.Val3914=)
| |
| 1 | g.215728355A>C | CA344829760 | USH2A | c.11741T>G (p.Val3914Gly)
| |
| 1 | g.215728355A>G | CA344829758 | USH2A | c.11741T>C (p.Val3914Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728355A>T | CA344829755 | USH2A | c.11741T>A (p.Val3914Asp)
| |
| 1 | g.215728356C>A | CA344829764 | USH2A | c.11740G>T (p.Val3914Phe)
| |
| 1 | g.215728356C= | CA1220396584 | USH2A | c.11740G= (p.Val3914=)
| |
| 1 | g.215728356C>G | CA344829766 | USH2A | c.11740G>C (p.Val3914Leu)
| |
| 1 | g.215728356C>T | CA344829769 | USH2A | c.11740G>A (p.Val3914Ile)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215728357A>C | CA423430173 | USH2A | c.11739T>G (p.Ser3913=)
| |
| 1 | g.215728357A>G | CA423430174 | USH2A | c.11739T>C (p.Ser3913=)
| |
| 1 | g.215728357A>T | CA423430175 | USH2A | c.11739T>A (p.Ser3913=)
| |
| 1 | g.215728358G>A | CA344829772 | USH2A | c.11738C>T (p.Ser3913Phe)
| |
| 1 | g.215728358G>C | CA344829775 | USH2A | c.11738C>G (p.Ser3913Cys)
| |
| 1 | g.215728358G>T | CA344829778 | USH2A | c.11738C>A (p.Ser3913Tyr)
| ClinVar gnomAD v4 |
| 1 | g.215728359A>C | CA344829779 | USH2A | c.11737T>G (p.Ser3913Ala)
| |
| 1 | g.215728359A>G | CA344829784 | USH2A | c.11737T>C (p.Ser3913Pro)
| |
| 1 | g.215728359A>T | CA344829781 | USH2A | c.11737T>A (p.Ser3913Thr)
| |
| 1 | g.215728360C>A | CA344829786 | USH2A | c.11736G>T (p.Glu3912Asp)
| |
| 1 | g.215728360C= | CA1140631546 | USH2A | c.11736G= (p.Glu3912=)
| |
| 1 | g.215728360C>G | CA344829791 | USH2A | c.11736G>C (p.Glu3912Asp)
| gnomAD v4 |
| 1 | g.215728360C>T | CA143267 | USH2A | c.11736G>A (p.Glu3912=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728361T>A | CA344829795 | USH2A | c.11735A>T (p.Glu3912Val)
| |
| 1 | g.215728361T>C | CA344829798 | USH2A | c.11735A>G (p.Glu3912Gly)
| |
| 1 | g.215728361T>G | CA344829804 | USH2A | c.11735A>C (p.Glu3912Ala)
| |
| 1 | g.215728361T= | CA1220396585 | USH2A | c.11735A= (p.Glu3912=)
| |
| 1 | g.215728361dup | CA913072763 | USH2A | c.11735dup (p.Ser3913ValfsTer12)
| |
| 1 | g.215728362C>A | CA344829808 | USH2A | c.11734G>T (p.Glu3912Ter)
| |
| 1 | g.215728362C= | CA1141878961 | USH2A | c.11734G= (p.Glu3912=)
| |
| 1 | g.215728362C>G | CA344829811 | USH2A | c.11734G>C (p.Glu3912Gln)
| |
| 1 | g.215728362C>T | CA182590 | USH2A | c.11734G>A (p.Glu3912Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215728363dup | CA658821851 | USH2A | c.11734dup (p.Glu3912GlyfsTer13)
| ClinVar dbSNP |
| 1 | g.215728363C>A | CA1393625 | USH2A | c.11733G>T (p.Glu3911Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215728363C= | CA1220396586 | USH2A | c.11733G= (p.Glu3911=)
| |
| 1 | g.215728363C>G | CA344829819 | USH2A | c.11733G>C (p.Glu3911Asp)
| |
| 1 | g.215728363C>T | CA423430186 | USH2A | c.11733G>A (p.Glu3911=)
| COSMIC COSMIC |
| 1 | g.215728364T>A | CA344829821 | USH2A | c.11732A>T (p.Glu3911Val)
| |
| 1 | g.215728364T>C | CA344829822 | USH2A | c.11732A>G (p.Glu3911Gly)
| |
| 1 | g.215728364T>G | CA344829820 | USH2A | c.11732A>C (p.Glu3911Ala)
| dbSNP |
| 1 | g.215728364T= | CA1220396587 | USH2A | c.11732A= (p.Glu3911=)
| |
| 1 | g.215728365C>A | CA344829823 | USH2A | c.11731G>T (p.Glu3911Ter)
| gnomAD v4 |
| 1 | g.215728365C= | CA1143421882 | USH2A | c.11731G= (p.Glu3911=)
| |
| 1 | g.215728365C>G | CA37395623 | USH2A | c.11731G>C (p.Glu3911Gln)
| dbSNP gnomAD v4 |
| 1 | g.215728365C>T | CA344829826 | USH2A | c.11731G>A (p.Glu3911Lys)
| COSMIC COSMIC |
| 1 | g.215728366T>A | CA344829829 | USH2A | c.11730A>T (p.Glu3910Asp)
| |
| 1 | g.215728366T>C | CA423430191 | USH2A | c.11730A>G (p.Glu3910=)
| COSMIC COSMIC |
| 1 | g.215728366T>G | CA344829830 | USH2A | c.11730A>C (p.Glu3910Asp)
| |
| 1 | g.215728367del | CA2695199990 | USH2A | c.11730del (p.Glu3911ArgfsTer22)
| ClinVar |
| 1 | g.215728367T>A | CA344829833 | USH2A | c.11729A>T (p.Glu3910Val)
| |
| 1 | g.215728367T>C | CA344829832 | USH2A | c.11729A>G (p.Glu3910Gly)
| |
| 1 | g.215728367T>G | CA344829831 | USH2A | c.11729A>C (p.Glu3910Ala)
| |
| 1 | g.215728368C>A | CA344829834 | USH2A | c.11728G>T (p.Glu3910Ter)
| gnomAD v4 |
| 1 | g.215728368C= | CA1220396588 | USH2A | c.11728G= (p.Glu3910=)
| |
| 1 | g.215728368C>G | CA344829835 | USH2A | c.11728G>C (p.Glu3910Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728368C>T | CA344829836 | USH2A | c.11728G>A (p.Glu3910Lys)
| |
| 1 | g.215728369A>C | CA344829839 | USH2A | c.11727T>G (p.Ile3909Met)
| |
| 1 | g.215728369A>G | CA423430200 | USH2A | c.11727T>C (p.Ile3909=)
| |
| 1 | g.215728369A>T | CA423430201 | USH2A | c.11727T>A (p.Ile3909=)
| |
| 1 | g.215728370A= | CA1220396589 | USH2A | c.11726T= (p.Ile3909=)
| |
| 1 | g.215728370A>C | CA344829841 | USH2A | c.11726T>G (p.Ile3909Ser)
| |
| 1 | g.215728370A>G | CA37395625 | USH2A | c.11726T>C (p.Ile3909Thr)
| dbSNP |
| 1 | g.215728370A>T | CA344829849 | USH2A | c.11726T>A (p.Ile3909Asn)
| |
| 1 | g.215728370_215728372delinsATG | CA1220396590 | USH2A | c.11724_11726delinsCAT (p.Gly3908=)
| |
| 1 | g.215728371T>A | CA344829851 | USH2A | c.11725A>T (p.Ile3909Phe)
| |
| 1 | g.215728371T>C | CA344829857 | USH2A | c.11725A>G (p.Ile3909Val)
| ClinVar dbSNP |
| 1 | g.215728371T>G | CA344829853 | USH2A | c.11725A>C (p.Ile3909Leu)
| |
| 1 | g.215728371T= | CA1220396591 | USH2A | c.11725A= (p.Ile3909=)
| |
| 1 | g.215728371_215728372del | CA1139656581 | USH2A | c.11724_11725del (p.Ile3909Ter)
| ClinVar dbSNP |
| 1 | g.215728372G>A | CA423430204 | USH2A | c.11724C>T (p.Gly3908=)
| |
| 1 | g.215728372G>C | CA423430207 | USH2A | c.11724C>G (p.Gly3908=)
| |
| 1 | g.215728372G>T | CA423430206 | USH2A | c.11724C>A (p.Gly3908=)
| |
| 1 | g.215728373C>A | CA344829859 | USH2A | c.11723G>T (p.Gly3908Val)
| dbSNP gnomAD v4 |
| 1 | g.215728373C= | CA1220396592 | USH2A | c.11723G= (p.Gly3908=)
| |
| 1 | g.215728373C>G | CA344829861 | USH2A | c.11723G>C (p.Gly3908Ala)
| |
| 1 | g.215728373C>T | CA344829869 | USH2A | c.11723G>A (p.Gly3908Asp)
| gnomAD v4 |
| 1 | g.215728374C>A | CA344829870 | USH2A | c.11722G>T (p.Gly3908Cys)
| |
| 1 | g.215728374C>G | CA344829873 | USH2A | c.11722G>C (p.Gly3908Arg)
| |
| 1 | g.215728374C>T | CA344829875 | USH2A | c.11722G>A (p.Gly3908Ser)
| dbSNP |
| 1 | g.215728375A>C | CA423430211 | USH2A | c.11721T>G (p.Ala3907=)
| gnomAD v4 |
| 1 | g.215728375A>G | CA423430212 | USH2A | c.11721T>C (p.Ala3907=)
| |
| 1 | g.215728375A>T | CA423430214 | USH2A | c.11721T>A (p.Ala3907=)
| |
| 1 | g.215728376G>A | CA344829878 | USH2A | c.11720C>T (p.Ala3907Val)
| |
| 1 | g.215728376G>C | CA344829881 | USH2A | c.11720C>G (p.Ala3907Gly)
| gnomAD v4 |
| 1 | g.215728376G>T | CA344829884 | USH2A | c.11720C>A (p.Ala3907Asp)
| |
| 1 | g.215728377C>A | CA1393626 | USH2A | c.11719G>T (p.Ala3907Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728377C= | CA1220396593 | USH2A | c.11719G= (p.Ala3907=)
| |
| 1 | g.215728377C>G | CA344829889 | USH2A | c.11719G>C (p.Ala3907Pro)
| |
| 1 | g.215728377C>T | CA344829892 | USH2A | c.11719G>A (p.Ala3907Thr)
| |
| 1 | g.215728378A>C | CA423430218 | USH2A | c.11718T>G (p.Pro3906=)
| |
| 1 | g.215728378A>G | CA423430219 | USH2A | c.11718T>C (p.Pro3906=)
| |
| 1 | g.215728378A>T | CA423430220 | USH2A | c.11718T>A (p.Pro3906=)
| |
| 1 | g.215728379G>A | CA344829894 | USH2A | c.11717C>T (p.Pro3906Leu)
| |
| 1 | g.215728379G>C | CA344829901 | USH2A | c.11717C>G (p.Pro3906Arg)
| |
| 1 | g.215728379G= | CA1220396594 | USH2A | c.11717C= (p.Pro3906=)
| |
| 1 | g.215728379G>T | CA344829899 | USH2A | c.11717C>A (p.Pro3906His)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728380G>A | CA1393627 | USH2A | c.11716C>T (p.Pro3906Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215728380G>C | CA344829907 | USH2A | c.11716C>G (p.Pro3906Ala)
| |
| 1 | g.215728380G= | CA1220396595 | USH2A | c.11716C= (p.Pro3906=)
| |
| 1 | g.215728380G>T | CA344829911 | USH2A | c.11716C>A (p.Pro3906Thr)
| |
| 1 | g.215728381G>A | CA423430225 | USH2A | c.11715C>T (p.Arg3905=)
| COSMIC COSMIC |
| 1 | g.215728381G>C | CA423430226 | USH2A | c.11715C>G (p.Arg3905=)
| ClinVar dbSNP |
| 1 | g.215728381G= | CA1220396596 | USH2A | c.11715C= (p.Arg3905=)
| |
| 1 | g.215728381G>T | CA423430227 | USH2A | c.11715C>A (p.Arg3905=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215728381_215728388dup | CA2650501681 | USH2A | c.11712-4_11715dup
| gnomAD v4 |
| 1 | g.215728382C>A | CA344829914 | USH2A | c.11714G>T (p.Arg3905Leu)
| |
| 1 | g.215728382C= | CA1143500617 | USH2A | c.11714G= (p.Arg3905=)
| |
| 1 | g.215728382C>G | CA344829915 | USH2A | c.11714G>C (p.Arg3905Pro)
| |
| 1 | g.215728382C>T | CA1393628 | USH2A | c.11714G>A (p.Arg3905His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215728383G>A | CA1393629 | USH2A | c.11713C>T (p.Arg3905Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215728383G>C | CA344829923 | USH2A | c.11713C>G (p.Arg3905Gly)
| |
| 1 | g.215728383G= | CA1143613361 | USH2A | c.11713C= (p.Arg3905=)
| |
| 1 | g.215728383G>T | CA344829924 | USH2A | c.11713C>A (p.Arg3905Ser)
| gnomAD v4 |
