| 1 | g.216247145T>A | CA344865414 | USH2A | c.2249A>T (p.Asn750Ile)
| |
| 1 | g.216247145T>C | CA344865419 | USH2A | c.2249A>G (p.Asn750Ser)
| COSMIC COSMIC COSMIC |
| 1 | g.216247145T>G | CA344865416 | USH2A | c.2249A>C (p.Asn750Thr)
| |
| 1 | g.216247146T>A | CA344865421 | USH2A | c.2248A>T (p.Asn750Tyr)
| |
| 1 | g.216247146T>C | CA344865423 | USH2A | c.2248A>G (p.Asn750Asp)
| gnomAD v4 |
| 1 | g.216247146T>G | CA344865426 | USH2A | c.2248A>C (p.Asn750His)
| |
| 1 | g.216247146_216247161delinsTACACTGGCAGGGCTC | CA1220619270 | USH2A | c.2233_2248delinsGAGCCCTGCCAGTGTA (p.Glu745=)
| |
| 1 | g.216247147A>C | CA344865428 | USH2A | c.2247T>G (p.Cys749Trp)
| |
| 1 | g.216247147A>G | CA423431581 | USH2A | c.2247T>C (p.Cys749=)
| |
| 1 | g.216247147A>T | CA344865430 | USH2A | c.2247T>A (p.Cys749Ter)
| |
| 1 | g.216247150_216247164del | CA1220619271 | USH2A | c.2233_2247del (p.Glu745_Cys749del)
| dbSNP |
| 1 | g.216247148C>A | CA344865432 | USH2A | c.2246G>T (p.Cys749Phe)
| |
| 1 | g.216247148C>G | CA344865434 | USH2A | c.2246G>C (p.Cys749Ser)
| |
| 1 | g.216247148C>T | CA344865435 | USH2A | c.2246G>A (p.Cys749Tyr)
| COSMIC COSMIC COSMIC |
| 1 | g.216247149A= | CA1220619272 | USH2A | c.2245T= (p.Cys749=)
| |
| 1 | g.216247149A>C | CA344865438 | USH2A | c.2245T>G (p.Cys749Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247149A>G | CA344865440 | USH2A | c.2245T>C (p.Cys749Arg)
| ClinVar gnomAD v4 |
| 1 | g.216247149A>T | CA344865442 | USH2A | c.2245T>A (p.Cys749Ser)
| gnomAD v4 |
| 1 | g.216247150C>A | CA344865444 | USH2A | c.2244G>T (p.Gln748His)
| dbSNP |
| 1 | g.216247150C= | CA1220619273 | USH2A | c.2244G= (p.Gln748=)
| |
| 1 | g.216247150C>G | CA344865445 | USH2A | c.2244G>C (p.Gln748His)
| |
| 1 | g.216247150C>T | CA423431593 | USH2A | c.2244G>A (p.Gln748=)
| |
| 1 | g.216247151T>A | CA344865447 | USH2A | c.2243A>T (p.Gln748Leu)
| |
| 1 | g.216247151T>C | CA344865451 | USH2A | c.2243A>G (p.Gln748Arg)
| |
| 1 | g.216247151T>G | CA344865449 | USH2A | c.2243A>C (p.Gln748Pro)
| |
| 1 | g.216247152G>A | CA344865452 | USH2A | c.2242C>T (p.Gln748Ter)
| |
| 1 | g.216247152G>C | CA344865453 | USH2A | c.2242C>G (p.Gln748Glu)
| |
| 1 | g.216247152G= | CA1220619274 | USH2A | c.2242C= (p.Gln748=)
| |
| 1 | g.216247152G>T | CA37501509 | USH2A | c.2242C>A (p.Gln748Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247153G>A | CA423431600 | USH2A | c.2241C>T (p.Cys747=)
| ClinVar dbSNP |
| 1 | g.216247153G>C | CA344865456 | USH2A | c.2241C>G (p.Cys747Trp)
| |
| 1 | g.216247153G>T | CA344865458 | USH2A | c.2241C>A (p.Cys747Ter)
| |
| 1 | g.216247154C>A | CA344865460 | USH2A | c.2240G>T (p.Cys747Phe)
| |
| 1 | g.216247154C>G | CA344865462 | USH2A | c.2240G>C (p.Cys747Ser)
| |
| 1 | g.216247154C>T | CA344865464 | USH2A | c.2240G>A (p.Cys747Tyr)
| |
| 1 | g.216247155A>C | CA344865467 | USH2A | c.2239T>G (p.Cys747Gly)
| |
| 1 | g.216247155A>G | CA344865469 | USH2A | c.2239T>C (p.Cys747Arg)
| |
| 1 | g.216247155A>T | CA344865470 | USH2A | c.2239T>A (p.Cys747Ser)
| |
| 1 | g.216247156G>A | CA423431603 | USH2A | c.2238C>T (p.Pro746=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216247156G>C | CA423431607 | USH2A | c.2238C>G (p.Pro746=)
| |
| 1 | g.216247156G>T | CA423431608 | USH2A | c.2238C>A (p.Pro746=)
| ClinVar gnomAD v4 |
| 1 | g.216247157G>A | CA344865474 | USH2A | c.2237C>T (p.Pro746Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247157G>C | CA344865476 | USH2A | c.2237C>G (p.Pro746Arg)
| |
| 1 | g.216247157G= | CA1220619275 | USH2A | c.2237C= (p.Pro746=)
| |
| 1 | g.216247157G>T | CA344865472 | USH2A | c.2237C>A (p.Pro746His)
| |
| 1 | g.216247158G>A | CA344865480 | USH2A | c.2236C>T (p.Pro746Ser)
| |
| 1 | g.216247158G>C | CA344865478 | USH2A | c.2236C>G (p.Pro746Ala)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216247158G= | CA1220619276 | USH2A | c.2236C= (p.Pro746=)
| |
| 1 | g.216247158G>T | CA344865482 | USH2A | c.2236C>A (p.Pro746Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247159C>A | CA344865484 | USH2A | c.2235G>T (p.Glu745Asp)
| |
| 1 | g.216247159C>G | CA344865486 | USH2A | c.2235G>C (p.Glu745Asp)
| gnomAD v4 |
| 1 | g.216247159C>T | CA423431616 | USH2A | c.2235G>A (p.Glu745=)
| |
| 1 | g.216247160T>A | CA344865488 | USH2A | c.2234A>T (p.Glu745Val)
| |
| 1 | g.216247160T>C | CA344865490 | USH2A | c.2234A>G (p.Glu745Gly)
| |
| 1 | g.216247160T>G | CA344865492 | USH2A | c.2234A>C (p.Glu745Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247160T= | CA1220619277 | USH2A | c.2234A= (p.Glu745=)
| |
| 1 | g.216247161C>A | CA344865494 | USH2A | c.2233G>T (p.Glu745Ter)
| |
| 1 | g.216247161C= | CA1220619278 | USH2A | c.2233G= (p.Glu745=)
| |
| 1 | g.216247161C>G | CA344865496 | USH2A | c.2233G>C (p.Glu745Gln)
| |
| 1 | g.216247161C>T | CA344865498 | USH2A | c.2233G>A (p.Glu745Lys)
| dbSNP |
| 1 | g.216247162A>C | CA344865500 | USH2A | c.2232T>G (p.Cys744Trp)
| |
| 1 | g.216247162A>G | CA423431625 | USH2A | c.2232T>C (p.Cys744=)
| |
| 1 | g.216247162A>T | CA344865502 | USH2A | c.2232T>A (p.Cys744Ter)
| ClinVar |
| 1 | g.216247162_216247166delinsACATC | CA1220619279 | USH2A | c.2228_2232delinsGATGT (p.Gly743=)
| |
| 1 | g.216247163C>A | CA344865504 | USH2A | c.2231G>T (p.Cys744Phe)
| |
| 1 | g.216247163C= | CA1220619280 | USH2A | c.2231G= (p.Cys744=)
| |
| 1 | g.216247163C>G | CA344865505 | USH2A | c.2231G>C (p.Cys744Ser)
| |
| 1 | g.216247163C>T | CA1396259 | USH2A | c.2231G>A (p.Cys744Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247165_216247168del | CA529002644 | USH2A | c.2228_2231del (p.Gly743ValfsTer12)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247164A>C | CA344865511 | USH2A | c.2230T>G (p.Cys744Gly)
| |
| 1 | g.216247164A>G | CA344865510 | USH2A | c.2230T>C (p.Cys744Arg)
| |
| 1 | g.216247164A>T | CA344865508 | USH2A | c.2230T>A (p.Cys744Ser)
| |
| 1 | g.216247165T>A | CA423431645 | USH2A | c.2229A>T (p.Gly743=)
| |
| 1 | g.216247165T>C | CA1396260 | USH2A | c.2229A>G (p.Gly743=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247165T>G | CA423431643 | USH2A | c.2229A>C (p.Gly743=)
| |
| 1 | g.216247165T= | CA1143754645 | USH2A | c.2229A= (p.Gly743=)
| |
| 1 | g.216247166C>A | CA183760 | USH2A | c.2228G>T (p.Gly743Val)
| ClinVar dbSNP |
| 1 | g.216247166C= | CA1148224997 | USH2A | c.2228G= (p.Gly743=)
| |
| 1 | g.216247166C>G | CA344865515 | USH2A | c.2228G>C (p.Gly743Ala)
| ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216247166C>T | CA344865517 | USH2A | c.2228G>A (p.Gly743Glu)
| |
| 1 | g.216247167C>A | CA344865519 | USH2A | c.2227G>T (p.Gly743Ter)
| |
| 1 | g.216247167C>G | CA344865520 | USH2A | c.2227G>C (p.Gly743Arg)
| |
| 1 | g.216247167C>T | CA344865522 | USH2A | c.2227G>A (p.Gly743Arg)
| gnomAD v4 |
| 1 | g.216247168A>C | CA423431650 | USH2A | c.2226T>G (p.Val742=)
| |
| 1 | g.216247168A>G | CA423431653 | USH2A | c.2226T>C (p.Val742=)
| ClinVar |
| 1 | g.216247168A>T | CA423431655 | USH2A | c.2226T>A (p.Val742=)
| |
| 1 | g.216247169A= | CA1220619281 | USH2A | c.2225T= (p.Val742=)
| |
| 1 | g.216247169A>C | CA344865524 | USH2A | c.2225T>G (p.Val742Gly)
| |
| 1 | g.216247169A>G | CA344865525 | USH2A | c.2225T>C (p.Val742Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.216247169A>T | CA344865526 | USH2A | c.2225T>A (p.Val742Asp)
| dbSNP |
| 1 | g.216247170C>A | CA344865529 | USH2A | c.2224G>T (p.Val742Phe)
| |
| 1 | g.216247170C>G | CA344865533 | USH2A | c.2224G>C (p.Val742Leu)
| |
| 1 | g.216247170C>T | CA344865535 | USH2A | c.2224G>A (p.Val742Ile)
| gnomAD v4 |
| 1 | g.216247171A= | CA1220619282 | USH2A | c.2223T= (p.Asp741=)
| |
| 1 | g.216247171A>C | CA344865539 | USH2A | c.2223T>G (p.Asp741Glu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247171A>G | CA423431660 | USH2A | c.2223T>C (p.Asp741=)
| |
| 1 | g.216247171A>T | CA344865537 | USH2A | c.2223T>A (p.Asp741Glu)
| |
| 1 | g.216247172T>A | CA344865541 | USH2A | c.2222A>T (p.Asp741Val)
| |
| 1 | g.216247172T>C | CA344865543 | USH2A | c.2222A>G (p.Asp741Gly)
| |
| 1 | g.216247172T>G | CA344865545 | USH2A | c.2222A>C (p.Asp741Ala)
| |
| 1 | g.216247173C>A | CA344865547 | USH2A | c.2221G>T (p.Asp741Tyr)
| |
| 1 | g.216247173C>G | CA344865548 | USH2A | c.2221G>C (p.Asp741His)
| |
| 1 | g.216247173C>T | CA344865549 | USH2A | c.2221G>A (p.Asp741Asn)
| |
| 1 | g.216247174A= | CA1220619283 | USH2A | c.2220T= (p.Asn740=)
| |
| 1 | g.216247174A>C | CA344865551 | USH2A | c.2220T>G (p.Asn740Lys)
| |
| 1 | g.216247174A>G | CA423431664 | USH2A | c.2220T>C (p.Asn740=)
| |
| 1 | g.216247174A>T | CA344865552 | USH2A | c.2220T>A (p.Asn740Lys)
| |
| 1 | g.216247175T>A | CA344865554 | USH2A | c.2219A>T (p.Asn740Ile)
| |
| 1 | g.216247175T>C | CA1396261 | USH2A | c.2219A>G (p.Asn740Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247175T>G | CA344865557 | USH2A | c.2219A>C (p.Asn740Thr)
| |
| 1 | g.216247175T= | CA1220619285 | USH2A | c.2219A= (p.Asn740=)
| |
| 1 | g.216247180_216247197dup | CA1220619284 | USH2A | c.2202_2219dup (p.Phe739_Asn740insLysPheLeuArgSerPhe)
| dbSNP |
| 1 | g.216247176T>A | CA344865560 | USH2A | c.2218A>T (p.Asn740Tyr)
| ClinVar dbSNP gnomAD v2 |
| 1 | g.216247176T>C | CA344865561 | USH2A | c.2218A>G (p.Asn740Asp)
| |
| 1 | g.216247176T>G | CA344865563 | USH2A | c.2218A>C (p.Asn740His)
| |
| 1 | g.216247176T= | CA1220619286 | USH2A | c.2218A= (p.Asn740=)
| |
| 1 | g.216247177A= | CA1220619287 | USH2A | c.2217T= (p.Phe739=)
| |
| 1 | g.216247177A>C | CA344865564 | USH2A | c.2217T>G (p.Phe739Leu)
| |
| 1 | g.216247177A>G | CA423431671 | USH2A | c.2217T>C (p.Phe739=)
| dbSNP gnomAD v2 COSMIC COSMIC COSMIC |
| 1 | g.216247177A>T | CA344865566 | USH2A | c.2217T>A (p.Phe739Leu)
| |
| 1 | g.216247179dup | CA2586964566 | USH2A | c.2217dup (p.Asn740Ter)
| gnomAD v4 |
| 1 | g.216247178A= | CA1220619288 | USH2A | c.2216T= (p.Phe739=)
| |
| 1 | g.216247178A>C | CA344865568 | USH2A | c.2216T>G (p.Phe739Cys)
| dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216247178A>G | CA344865570 | USH2A | c.2216T>C (p.Phe739Ser)
| |
| 1 | g.216247178A>T | CA344865572 | USH2A | c.2216T>A (p.Phe739Tyr)
| |
| 1 | g.216247179A= | CA1220619289 | USH2A | c.2215T= (p.Phe739=)
| |
| 1 | g.216247179A>C | CA344865574 | USH2A | c.2215T>G (p.Phe739Val)
| |
| 1 | g.216247179A>G | CA344865576 | USH2A | c.2215T>C (p.Phe739Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247179A>T | CA344865578 | USH2A | c.2215T>A (p.Phe739Ile)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247180G>A | CA1396262 | USH2A | c.2214C>T (p.Ser738=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247180G>C | CA37501560 | USH2A | c.2214C>G (p.Ser738Arg)
| dbSNP |
| 1 | g.216247180G= | CA1220619290 | USH2A | c.2214C= (p.Ser738=)
| |
| 1 | g.216247180G>T | CA344865582 | USH2A | c.2214C>A (p.Ser738Arg)
| dbSNP gnomAD v4 |
| 1 | g.216247181C>A | CA344865585 | USH2A | c.2213G>T (p.Ser738Ile)
| |
| 1 | g.216247181C= | CA1220619291 | USH2A | c.2213G= (p.Ser738=)
| |
| 1 | g.216247181C>G | CA344865587 | USH2A | c.2213G>C (p.Ser738Thr)
| |
| 1 | g.216247181C>T | CA37501564 | USH2A | c.2213G>A (p.Ser738Asn)
| dbSNP gnomAD v4 |
| 1 | g.216247182T>A | CA344865594 | USH2A | c.2212A>T (p.Ser738Cys)
| |
| 1 | g.216247182T>C | CA1396263 | USH2A | c.2212A>G (p.Ser738Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247182T>G | CA344865590 | USH2A | c.2212A>C (p.Ser738Arg)
| |
| 1 | g.216247182T= | CA1220619292 | USH2A | c.2212A= (p.Ser738=)
| |
| 1 | g.216247183T>A | CA423431691 | USH2A | c.2211A>T (p.Arg737=)
| |
| 1 | g.216247183T>C | CA423431692 | USH2A | c.2211A>G (p.Arg737=)
| |
| 1 | g.216247183T>G | CA423431693 | USH2A | c.2211A>C (p.Arg737=)
| |
| 1 | g.216247184C>A | CA344865596 | USH2A | c.2210G>T (p.Arg737Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247184C= | CA1220619293 | USH2A | c.2210G= (p.Arg737=)
| |
| 1 | g.216247184C>G | CA344865599 | USH2A | c.2210G>C (p.Arg737Pro)
| gnomAD v4 |
| 1 | g.216247184C>T | CA1396264 | USH2A | c.2210G>A (p.Arg737Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216247184_216247188del | CA2747735794 | USH2A | c.2206_2210del (p.Leu736LysfsTer3)
| |
| 1 | g.216247184_216247189del | CA2747735795 | USH2A | c.2205_2210del (p.Phe735_Arg737delinsLeu)
| |
| 1 | g.216247185G>A | CA252242 | USH2A | c.2209C>T (p.Arg737Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216247185G>C | CA344865601 | USH2A | c.2209C>G (p.Arg737Gly)
| gnomAD v4 |
| 1 | g.216247185G= | CA1141189310 | USH2A | c.2209C= (p.Arg737=)
| |
| 1 | g.216247185G>T | CA423431700 | USH2A | c.2209C>A (p.Arg737=)
| ClinVar |
| 1 | g.216247186G>A | CA423431706 | USH2A | c.2208C>T (p.Leu736=)
| |
| 1 | g.216247186G>C | CA423431703 | USH2A | c.2208C>G (p.Leu736=)
| |
| 1 | g.216247186G>T | CA423431704 | USH2A | c.2208C>A (p.Leu736=)
| dbSNP |
| 1 | g.216247187A>C | CA344865602 | USH2A | c.2207T>G (p.Leu736Arg)
| |
| 1 | g.216247187A>G | CA344865603 | USH2A | c.2207T>C (p.Leu736Pro)
| |
| 1 | g.216247187A>T | CA344865605 | USH2A | c.2207T>A (p.Leu736His)
| |
| 1 | g.216247188G>A | CA1396265 | USH2A | c.2206C>T (p.Leu736Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247188G>C | CA344865608 | USH2A | c.2206C>G (p.Leu736Val)
| |
| 1 | g.216247188G= | CA1220619294 | USH2A | c.2206C= (p.Leu736=)
| |
| 1 | g.216247188G>T | CA344865610 | USH2A | c.2206C>A (p.Leu736Ile)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247189A>C | CA344865612 | USH2A | c.2205T>G (p.Phe735Leu)
| |
| 1 | g.216247189A>G | CA423431715 | USH2A | c.2205T>C (p.Phe735=)
| gnomAD v4 |
| 1 | g.216247189A>T | CA344865613 | USH2A | c.2205T>A (p.Phe735Leu)
| |
| 1 | g.216247190A= | CA1220619295 | USH2A | c.2204T= (p.Phe735=)
| |
| 1 | g.216247190A>C | CA1396266 | USH2A | c.2204T>G (p.Phe735Cys)
| dbSNP ExAC gnomAD v2 |
| 1 | g.216247190A>G | CA344865616 | USH2A | c.2204T>C (p.Phe735Ser)
| |
| 1 | g.216247190A>T | CA344865618 | USH2A | c.2204T>A (p.Phe735Tyr)
| |
| 1 | g.216247191A= | CA1220619296 | USH2A | c.2203T= (p.Phe735=)
| |
| 1 | g.216247191A>C | CA344865620 | USH2A | c.2203T>G (p.Phe735Val)
| |
| 1 | g.216247191A>G | CA37501592 | USH2A | c.2203T>C (p.Phe735Leu)
| dbSNP |
| 1 | g.216247191A>T | CA344865622 | USH2A | c.2203T>A (p.Phe735Ile)
| |
| 1 | g.216247191_216247192del | CA2747735796 | USH2A | c.2202_2203del (p.Lys734AsnfsTer6)
| |
| 1 | g.216247192T>A | CA344865626 | USH2A | c.2202A>T (p.Lys734Asn)
| |
| 1 | g.216247192T>C | CA423431724 | USH2A | c.2202A>G (p.Lys734=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247192T>G | CA344865630 | USH2A | c.2202A>C (p.Lys734Asn)
| |
| 1 | g.216247192T= | CA1220619297 | USH2A | c.2202A= (p.Lys734=)
| |
| 1 | g.216247193T>A | CA344865632 | USH2A | c.2201A>T (p.Lys734Ile)
| |
| 1 | g.216247193T>C | CA344865633 | USH2A | c.2201A>G (p.Lys734Arg)
| |
| 1 | g.216247193T>G | CA344865634 | USH2A | c.2201A>C (p.Lys734Thr)
| |
| 1 | g.216247193_216247195del | CA2747735797 | USH2A | c.2199_2201del (p.Phe733_Lys734delinsLeu)
| |
| 1 | g.216247194T>A | CA344865635 | USH2A | c.2200A>T (p.Lys734Ter)
| |
| 1 | g.216247194T>C | CA344865636 | USH2A | c.2200A>G (p.Lys734Glu)
| |
| 1 | g.216247194T>G | CA344865637 | USH2A | c.2200A>C (p.Lys734Gln)
| |
| 1 | g.216247195A>C | CA344865638 | USH2A | c.2199T>G (p.Phe733Leu)
| |
| 1 | g.216247195A>G | CA423431734 | USH2A | c.2199T>C (p.Phe733=)
| |
| 1 | g.216247195A>T | CA344865639 | USH2A | c.2199T>A (p.Phe733Leu)
| COSMIC COSMIC COSMIC |
| 1 | g.216247196A= | CA1220619298 | USH2A | c.2198T= (p.Phe733=)
| |
| 1 | g.216247196A>C | CA344865643 | USH2A | c.2198T>G (p.Phe733Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247196A>G | CA344865641 | USH2A | c.2198T>C (p.Phe733Ser)
| |
| 1 | g.216247196A>T | CA344865640 | USH2A | c.2198T>A (p.Phe733Tyr)
| |
| 1 | g.216247197A= | CA1220619299 | USH2A | c.2197T= (p.Phe733=)
| |
| 1 | g.216247197A>C | CA344865645 | USH2A | c.2197T>G (p.Phe733Val)
| |
| 1 | g.216247197A>G | CA344865647 | USH2A | c.2197T>C (p.Phe733Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247197A>T | CA344865648 | USH2A | c.2197T>A (p.Phe733Ile)
| |
| 1 | g.216247198T>A | CA423431745 | USH2A | c.2196A>T (p.Gly732=)
| |
| 1 | g.216247198T>C | CA1396267 | USH2A | c.2196A>G (p.Gly732=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247198T>G | CA423431746 | USH2A | c.2196A>C (p.Gly732=)
| |
| 1 | g.216247198T= | CA1148429514 | USH2A | c.2196A= (p.Gly732=)
| |
| 1 | g.216247199C>A | CA344865650 | USH2A | c.2195G>T (p.Gly732Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247199C= | CA1220619300 | USH2A | c.2195G= (p.Gly732=)
| |
| 1 | g.216247199C>G | CA344865652 | USH2A | c.2195G>C (p.Gly732Ala)
| |
| 1 | g.216247199C>T | CA344865654 | USH2A | c.2195G>A (p.Gly732Glu)
| |
| 1 | g.216247200C>A | CA344865655 | USH2A | c.2194G>T (p.Gly732Ter)
| ClinVar |
| 1 | g.216247200C= | CA1220619301 | USH2A | c.2194G= (p.Gly732=)
| |
| 1 | g.216247200C>G | CA344865656 | USH2A | c.2194G>C (p.Gly732Arg)
| gnomAD v4 |
| 1 | g.216247200C>T | CA344865658 | USH2A | c.2194G>A (p.Gly732Arg)
| dbSNP gnomAD v4 |
| 1 | g.216247201A>C | CA344865660 | USH2A | c.2193T>G (p.Phe731Leu)
| |
| 1 | g.216247201A>G | CA423431753 | USH2A | c.2193T>C (p.Phe731=)
| |
| 1 | g.216247201A>T | CA344865662 | USH2A | c.2193T>A (p.Phe731Leu)
| |
| 1 | g.216247202A= | CA1220619302 | USH2A | c.2192T= (p.Phe731=)
| |
| 1 | g.216247202A>C | CA344865665 | USH2A | c.2192T>G (p.Phe731Cys)
| |
| 1 | g.216247202A>G | CA344865667 | USH2A | c.2192T>C (p.Phe731Ser)
| dbSNP |
| 1 | g.216247202A>T | CA344865663 | USH2A | c.2192T>A (p.Phe731Tyr)
| gnomAD v4 |
| 1 | g.216247203A>C | CA344865669 | USH2A | c.2191T>G (p.Phe731Val)
| |
| 1 | g.216247203A>G | CA344865671 | USH2A | c.2191T>C (p.Phe731Leu)
| |
| 1 | g.216247203A>T | CA344865673 | USH2A | c.2191T>A (p.Phe731Ile)
| |
| 1 | g.216247204A>C | CA344865675 | USH2A | c.2190T>G (p.Asn730Lys)
| |
| 1 | g.216247204A>G | CA423431761 | USH2A | c.2190T>C (p.Asn730=)
| |
| 1 | g.216247204A>T | CA344865677 | USH2A | c.2190T>A (p.Asn730Lys)
| |
| 1 | g.216247205T>A | CA344865682 | USH2A | c.2189A>T (p.Asn730Ile)
| |
| 1 | g.216247205T>C | CA344865679 | USH2A | c.2189A>G (p.Asn730Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247205T>G | CA344865680 | USH2A | c.2189A>C (p.Asn730Thr)
| |
| 1 | g.216247205T= | CA1220619303 | USH2A | c.2189A= (p.Asn730=)
| |
| 1 | g.216247206T>A | CA344865684 | USH2A | c.2188A>T (p.Asn730Tyr)
| |
| 1 | g.216247206T>C | CA344865686 | USH2A | c.2188A>G (p.Asn730Asp)
| gnomAD v4 |
| 1 | g.216247206T>G | CA344865687 | USH2A | c.2188A>C (p.Asn730His)
| |
| 1 | g.216247207G>A | CA423431766 | USH2A | c.2187C>T (p.Cys729=)
| |
| 1 | g.216247207G>C | CA344865689 | USH2A | c.2187C>G (p.Cys729Trp)
| |
| 1 | g.216247207G= | CA1220619304 | USH2A | c.2187C= (p.Cys729=)
| |
| 1 | g.216247207G>T | CA1396268 | USH2A | c.2187C>A (p.Cys729Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247208C>A | CA344865695 | USH2A | c.2186G>T (p.Cys729Phe)
| |
| 1 | g.216247208C= | CA1220619305 | USH2A | c.2186G= (p.Cys729=)
| |
| 1 | g.216247208C>G | CA344865693 | USH2A | c.2186G>C (p.Cys729Ser)
| |
| 1 | g.216247208C>T | CA1396269 | USH2A | c.2186G>A (p.Cys729Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247209A>C | CA344865697 | USH2A | c.2185T>G (p.Cys729Gly)
| |
| 1 | g.216247209A>G | CA344865700 | USH2A | c.2185T>C (p.Cys729Arg)
| ClinVar dbSNP |
| 1 | g.216247209A>T | CA344865698 | USH2A | c.2185T>A (p.Cys729Ser)
| |
| 1 | g.216247210A= | CA1148225741 | USH2A | c.2184T= (p.His728=)
| |
| 1 | g.216247210A>C | CA344865702 | USH2A | c.2184T>G (p.His728Gln)
| |
| 1 | g.216247210A>G | CA1396270 | USH2A | c.2184T>C (p.His728=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247210A>T | CA344865704 | USH2A | c.2184T>A (p.His728Gln)
| |
| 1 | g.216247211T>A | CA344865707 | USH2A | c.2183A>T (p.His728Leu)
| |
| 1 | g.216247211T>C | CA344865709 | USH2A | c.2183A>G (p.His728Arg)
| dbSNP |
| 1 | g.216247211T>G | CA344865710 | USH2A | c.2183A>C (p.His728Pro)
| |
| 1 | g.216247212G>A | CA344865711 | USH2A | c.2182C>T (p.His728Tyr)
| dbSNP gnomAD v4 |
| 1 | g.216247212G>C | CA344865712 | USH2A | c.2182C>G (p.His728Asp)
| |
| 1 | g.216247212G= | CA1220619306 | USH2A | c.2182C= (p.His728=)
| |
| 1 | g.216247212G>T | CA344865714 | USH2A | c.2182C>A (p.His728Asn)
| |
| 1 | g.216247212_216247222del | CA2747735798 | USH2A | c.2172_2182del (p.Arg725LeufsTer6)
| |
| 1 | g.216247213A>C | CA344865716 | USH2A | c.2181T>G (p.Asp727Glu)
| |
| 1 | g.216247213A>G | CA423431777 | USH2A | c.2181T>C (p.Asp727=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216247213A>T | CA344865718 | USH2A | c.2181T>A (p.Asp727Glu)
| gnomAD v4 |
| 1 | g.216247214T>A | CA344865720 | USH2A | c.2180A>T (p.Asp727Val)
| |
| 1 | g.216247214T>C | CA344865721 | USH2A | c.2180A>G (p.Asp727Gly)
| |
| 1 | g.216247214T>G | CA344865723 | USH2A | c.2180A>C (p.Asp727Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247214T= | CA1220619307 | USH2A | c.2180A= (p.Asp727=)
| |
| 1 | g.216247215C>A | CA344865729 | USH2A | c.2179G>T (p.Asp727Tyr)
| |
| 1 | g.216247215C>G | CA344865727 | USH2A | c.2179G>C (p.Asp727His)
| |
| 1 | g.216247215C>T | CA344865725 | USH2A | c.2179G>A (p.Asp727Asn)
| gnomAD v4 COSMIC |
| 1 | g.216247216A>C | CA344865731 | USH2A | c.2178T>G (p.Cys726Trp)
| |
| 1 | g.216247216A>G | CA423431781 | USH2A | c.2178T>C (p.Cys726=)
| |
| 1 | g.216247216A>T | CA344865732 | USH2A | c.2178T>A (p.Cys726Ter)
| |
| 1 | g.216247217C>A | CA344865735 | USH2A | c.2177G>T (p.Cys726Phe)
| |
| 1 | g.216247217C>G | CA344865736 | USH2A | c.2177G>C (p.Cys726Ser)
| |
| 1 | g.216247217C>T | CA344865737 | USH2A | c.2177G>A (p.Cys726Tyr)
| gnomAD v4 |
| 1 | g.216247218A>C | CA344865739 | USH2A | c.2176T>G (p.Cys726Gly)
| |
| 1 | g.216247218A>G | CA344865741 | USH2A | c.2176T>C (p.Cys726Arg)
| |
| 1 | g.216247218A>T | CA344865743 | USH2A | c.2176T>A (p.Cys726Ser)
| |
| 1 | g.216247219C>A | CA344865745 | USH2A | c.2175G>T (p.Arg725Ser)
| |
| 1 | g.216247219C>G | CA344865747 | USH2A | c.2175G>C (p.Arg725Ser)
| |
| 1 | g.216247219C>T | CA423431787 | USH2A | c.2175G>A (p.Arg725=)
| gnomAD v4 |
| 1 | g.216247220C>A | CA344865749 | USH2A | c.2174G>T (p.Arg725Met)
| COSMIC COSMIC COSMIC |
| 1 | g.216247220C= | CA1220619308 | USH2A | c.2174G= (p.Arg725=)
| |
| 1 | g.216247220C>G | CA37501617 | USH2A | c.2174G>C (p.Arg725Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247220C>T | CA1396271 | USH2A | c.2174G>A (p.Arg725Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247221T>A | CA344865753 | USH2A | c.2173A>T (p.Arg725Trp)
| |
| 1 | g.216247221T>C | CA344865754 | USH2A | c.2173A>G (p.Arg725Gly)
| |
| 1 | g.216247221T>G | CA423431792 | USH2A | c.2173A>C (p.Arg725=)
| gnomAD v4 |
| 1 | g.216247221_216247222del | CA2747735799 | USH2A | c.2172_2173del (p.Arg725ValfsTer2)
| |
| 1 | g.216247222A= | CA1220619309 | USH2A | c.2172T= (p.Leu724=)
| |
| 1 | g.216247222A>C | CA423431793 | USH2A | c.2172T>G (p.Leu724=)
| |
| 1 | g.216247222A>G | CA423431795 | USH2A | c.2172T>C (p.Leu724=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216247222A>T | CA423431794 | USH2A | c.2172T>A (p.Leu724=)
| |
| 1 | g.216247223A>C | CA344865756 | USH2A | c.2171T>G (p.Leu724Arg)
| |
| 1 | g.216247223A>G | CA344865758 | USH2A | c.2171T>C (p.Leu724Pro)
| |
| 1 | g.216247223A>T | CA344865759 | USH2A | c.2171T>A (p.Leu724His)
| |
| 1 | g.216247223_216247224insCT | CA2747735800 | USH2A | c.2170_2171insAG (p.Leu724GlnfsTer?)
| |
| 1 | g.216247224G>A | CA344865762 | USH2A | c.2170C>T (p.Leu724Phe)
| |
| 1 | g.216247224G>C | CA344865763 | USH2A | c.2170C>G (p.Leu724Val)
| |
| 1 | g.216247224G>T | CA344865765 | USH2A | c.2170C>A (p.Leu724Ile)
| |
| 1 | g.216247225C>A | CA423431797 | USH2A | c.2169G>T (p.Gly723=)
| |
| 1 | g.216247225C= | CA1220619310 | USH2A | c.2169G= (p.Gly723=)
| |
| 1 | g.216247225C>G | CA423431798 | USH2A | c.2169G>C (p.Gly723=)
| |
| 1 | g.216247225C>T | CA1396272 | USH2A | c.2169G>A (p.Gly723=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216247226C>A | CA344865768 | USH2A | c.2168G>T (p.Gly723Val)
| |
| 1 | g.216247226C>G | CA344865770 | USH2A | c.2168G>C (p.Gly723Ala)
| |
| 1 | g.216247226C>T | CA344865771 | USH2A | c.2168G>A (p.Gly723Glu)
| |
| 1 | g.216247227C>A | CA344865774 | USH2A | c.2168-1G>T (n.2168-1G>T)
| ClinVar |
| 1 | g.216247227C= | CA1149055365 | USH2A | c.2168-1G= (n.2168-1G=)
| |
| 1 | g.216247227C>G | CA1396273 | USH2A | c.2168-1G>C (n.2168-1G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247227C>T | CA344865775 | USH2A | c.2168-1G>A (n.2168-1G>A)
| dbSNP |
| 1 | g.216247227_216247228del | CA2747735801 | USH2A | c.2168-2_2168-1del (n.2168-2_2168-1del)
| |
| 1 | g.216247228del | CA2747735802 | USH2A | c.2168-2del (n.2168-2del)
| |
| 1 | g.216247228T>A | CA344865780 | USH2A | c.2168-2A>T (n.2168-2A>T)
| |
| 1 | g.216247228T>C | CA37501658 | USH2A | c.2168-2A>G (n.2168-2A>G)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216247228T>G | CA344865779 | USH2A | c.2168-2A>C (n.2168-2A>C)
| ClinVar dbSNP |
| 1 | g.216247228T= | CA1220619311 | USH2A | c.2168-2A= (n.2168-2A=)
| |
| 1 | g.216247230A>C | CA2747735803 | USH2A | c.2168-4T>G (n.2168-4T>G)
| |
| 1 | g.216247230_216247231insCTT | CA2747735804 | USH2A | c.2168-5_2168-4insAAG (n.2168-5_2168-4insAAG)
| |
| 1 | g.216247232G>A | CA1220619313 | USH2A | c.2168-6C>T (n.2168-6C>T)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216247232G>C | CA731432485 | USH2A | c.2168-6C>G (n.2168-6C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247232G= | CA1220619312 | USH2A | c.2168-6C= (n.2168-6C=)
| |
| 1 | g.216247232G>T | CA731432486 | USH2A | c.2168-6C>A (n.2168-6C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247232_216247233delinsGA | CA1220619314 | USH2A | c.2168-7_2168-6delinsTC (n.2168-7_2168-6delinsTC)
| |
| 1 | g.216247233del | CA1220619315 | USH2A | c.2168-7del (n.2168-7del)
| dbSNP |
| 1 | g.216247233A>C | CA2499214525 | USH2A | c.2168-7T>G (n.2168-7T>G)
| ClinVar dbSNP |
| 1 | g.216247233A>T | CA2650512854 | USH2A | c.2168-7T>A (n.2168-7T>A)
| gnomAD v4 |
| 1 | g.216247234T>G | CA2529625399 | USH2A | c.2168-8A>C (n.2168-8A>C)
| |
| 1 | g.216247234T= | CA1220619317 | USH2A | c.2168-8A= (n.2168-8A=)
| |
| 1 | g.216247234_216247247delinsTAAAATATATTTAA | CA1220619316 | USH2A | c.2168-21_2168-8delinsTTAAATATATTTTA (n.2168-21_2168-8delinsTTAAATATATTTTA)
| |
| 1 | g.216247235A>C | CA2586964567 | USH2A | c.2168-9T>G (n.2168-9T>G)
| |
| 1 | g.216247235A>T | CA2650512855 | USH2A | c.2168-9T>A (n.2168-9T>A)
| gnomAD v4 |
| 1 | g.216247238dup | CA731432504 | USH2A | c.2168-9dup (n.2168-9dup)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216247237_216247249del | CA1396274 | USH2A | c.2168-21_2168-9del (n.2168-21_2168-9del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247236A>C | CA2747735805 | USH2A | c.2168-10T>G (n.2168-10T>G)
| |
| 1 | g.216247237A= | CA1220619318 | USH2A | c.2168-11T= (n.2168-11T=)
| |
| 1 | g.216247237A>G | CA1396275 | USH2A | c.2168-11T>C (n.2168-11T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247238A= | CA1220619319 | USH2A | c.2168-12T= (n.2168-12T=)
| |
| 1 | g.216247238A>C | CA1220619320 | USH2A | c.2168-12T>G (n.2168-12T>G)
| dbSNP gnomAD v4 |
| 1 | g.216247238A>G | CA2739275654 | USH2A | c.2168-12T>C (n.2168-12T>C)
| ClinVar |
| 1 | g.216247239T>C | CA2580062157 | USH2A | c.2168-13A>G (n.2168-13A>G)
| ClinVar |
| 1 | g.216247240_216247241delinsAT | CA1220619321 | USH2A | c.2168-15_2168-14delinsAT (n.2168-15_2168-14delinsAT)
| |
| 1 | g.216247241del | CA1220619324 | USH2A | c.2168-15del (n.2168-15del)
| dbSNP |
| 1 | g.216247241T>A | CA1396276 | USH2A | c.2168-15A>T (n.2168-15A>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216247241T>C | CA37501667 | USH2A | c.2168-15A>G (n.2168-15A>G)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216247241T= | CA1220619322 | USH2A | c.2168-15A= (n.2168-15A=)
| |
| 1 | g.216247241_216247242delinsTA | CA1220619323 | USH2A | c.2168-16_2168-15delinsTA (n.2168-16_2168-15delinsTA)
| |
| 1 | g.216247242del | CA529002645 | USH2A | c.2168-16del (n.2168-16del)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216247242A= | CA1220619325 | USH2A | c.2168-16T= (n.2168-16T=)
| |
| 1 | g.216247242A>G | CA1396277 | USH2A | c.2168-16T>C (n.2168-16T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216247243_216247247del | CA2747735806 | USH2A | c.2168-20_2168-16del (n.2168-20_2168-16del)
| |
| 1 | g.216247243T>A | CA2650512856 | USH2A | c.2168-17A>T (n.2168-17A>T)
| gnomAD v4 |
| 1 | g.216247244_216247245insAGA | CA2747735807 | USH2A | c.2168-19_2168-18insTCT (n.2168-19_2168-18insTCT)
| |
| 1 | g.216247245T>A | CA2697554932 | USH2A | c.2168-19A>T (n.2168-19A>T)
| ClinVar |
| 1 | g.216247245_216247246delinsTA | CA1220619326 | USH2A | c.2168-20_2168-19delinsTA (n.2168-20_2168-19delinsTA)
| |
