| 1 | g.215673953_215675415del | CA1139656543 | USH2A | c.12497_13811+148del
| ClinVar |
| 1 | g.215675305_215675306del | CA2547613001 | USH2A | c.12605_12606del (p.Asn4202ThrfsTer15)
| |
| 1 | g.215675306T>A | CA344850462 | USH2A | c.12605A>T (p.Asn4202Ile)
| |
| 1 | g.215675306T>C | CA344850460 | USH2A | c.12605A>G (p.Asn4202Ser)
| |
| 1 | g.215675306T>G | CA344850459 | USH2A | c.12605A>C (p.Asn4202Thr)
| |
| 1 | g.215675306_215675315del | CA1012179195 | USH2A | c.12596_12605del (p.Ala4199ValfsTer?)
| gnomAD v3 gnomAD v4 |
| 1 | g.215675307T>A | CA344850465 | USH2A | c.12604A>T (p.Asn4202Tyr)
| |
| 1 | g.215675307T>C | CA344850467 | USH2A | c.12604A>G (p.Asn4202Asp)
| |
| 1 | g.215675307T>G | CA344850469 | USH2A | c.12604A>C (p.Asn4202His)
| |
| 1 | g.215675308T>A | CA423428464 | USH2A | c.12603A>T (p.Gly4201=)
| |
| 1 | g.215675308T>C | CA423428467 | USH2A | c.12603A>G (p.Gly4201=)
| |
| 1 | g.215675308T>G | CA423428468 | USH2A | c.12603A>C (p.Gly4201=)
| |
| 1 | g.215675308_215675309del | CA913072757 | USH2A | c.12602_12603del (p.Gly4201GlufsTer16)
| |
| 1 | g.215675308_215675309delinsTC | CA1220373882 | USH2A | c.12602_12603delinsGA (p.Gly4201=)
| |
| 1 | g.215675309C>A | CA344850470 | USH2A | c.12602G>T (p.Gly4201Val)
| |
| 1 | g.215675309C>G | CA344850471 | USH2A | c.12602G>C (p.Gly4201Ala)
| |
| 1 | g.215675309C>T | CA344850474 | USH2A | c.12602G>A (p.Gly4201Glu)
| |
| 1 | g.215675312del | CA658822645 | USH2A | c.12602del (p.Gly4201GlufsTer?)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675310C>A | CA344850479 | USH2A | c.12601G>T (p.Gly4201Ter)
| |
| 1 | g.215675310C>G | CA344850481 | USH2A | c.12601G>C (p.Gly4201Arg)
| |
| 1 | g.215675310C>T | CA344850484 | USH2A | c.12601G>A (p.Gly4201Arg)
| COSMIC |
| 1 | g.215675311C>A | CA344850485 | USH2A | c.12600G>T (p.Trp4200Cys)
| |
| 1 | g.215675311C>G | CA344850486 | USH2A | c.12600G>C (p.Trp4200Cys)
| |
| 1 | g.215675311C>T | CA344850487 | USH2A | c.12600G>A (p.Trp4200Ter)
| COSMIC |
| 1 | g.215675311_215675312insTG | CA2518843701 | USH2A | c.12599_12600insCA (p.Trp4200CysfsTer?)
| |
| 1 | g.215675312C>A | CA344850492 | USH2A | c.12599G>T (p.Trp4200Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675312C= | CA1220373883 | USH2A | c.12599G= (p.Trp4200=)
| |
| 1 | g.215675312C>G | CA344850491 | USH2A | c.12599G>C (p.Trp4200Ser)
| COSMIC COSMIC |
| 1 | g.215675312C>T | CA344850490 | USH2A | c.12599G>A (p.Trp4200Ter)
| ClinVar |
| 1 | g.215675313A= | CA1141381459 | USH2A | c.12598T= (p.Trp4200=)
| |
| 1 | g.215675313A>C | CA182586 | USH2A | c.12598T>G (p.Trp4200Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675313A>G | CA344850498 | USH2A | c.12598T>C (p.Trp4200Arg)
| gnomAD v4 |
| 1 | g.215675313A>T | CA344850495 | USH2A | c.12598T>A (p.Trp4200Arg)
| |
| 1 | g.215675314del | CA2513118951 | USH2A | c.12598del (p.Trp4200GlyfsTer?)
| |
| 1 | g.215675314A= | CA1143530676 | USH2A | c.12597T= (p.Ala4199=)
| |
| 1 | g.215675314A>C | CA423428477 | USH2A | c.12597T>G (p.Ala4199=)
| |
| 1 | g.215675314A>G | CA1393441 | USH2A | c.12597T>C (p.Ala4199=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675314A>T | CA423428478 | USH2A | c.12597T>A (p.Ala4199=)
| |
| 1 | g.215675315G>A | CA1393442 | USH2A | c.12596C>T (p.Ala4199Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675315G>C | CA344850502 | USH2A | c.12596C>G (p.Ala4199Gly)
| |
| 1 | g.215675315G= | CA1220373884 | USH2A | c.12596C= (p.Ala4199=)
| |
| 1 | g.215675315G>T | CA344850503 | USH2A | c.12596C>A (p.Ala4199Asp)
| |
| 1 | g.215675316C>A | CA344850504 | USH2A | c.12595G>T (p.Ala4199Ser)
| |
| 1 | g.215675316C= | CA1220373885 | USH2A | c.12595G= (p.Ala4199=)
| |
| 1 | g.215675316C>G | CA344850505 | USH2A | c.12595G>C (p.Ala4199Pro)
| COSMIC COSMIC |
| 1 | g.215675316C>T | CA344850506 | USH2A | c.12595G>A (p.Ala4199Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675316_215675317insA | CA2541811735 | USH2A | c.12594_12595insT (p.Ala4199CysfsTer19)
| |
| 1 | g.215675317T>A | CA344850507 | USH2A | c.12594A>T (p.Lys4198Asn)
| |
| 1 | g.215675317T>C | CA423428483 | USH2A | c.12594A>G (p.Lys4198=)
| |
| 1 | g.215675317T>G | CA344850508 | USH2A | c.12594A>C (p.Lys4198Asn)
| COSMIC |
| 1 | g.215675318T>A | CA344850510 | USH2A | c.12593A>T (p.Lys4198Ile)
| |
| 1 | g.215675318T>C | CA344850512 | USH2A | c.12593A>G (p.Lys4198Arg)
| |
| 1 | g.215675318T>G | CA344850514 | USH2A | c.12593A>C (p.Lys4198Thr)
| |
| 1 | g.215675318_215675322del | CA1012179208 | USH2A | c.12589_12593del (p.Gly4197SerfsTer19)
| gnomAD v3 gnomAD v4 |
| 1 | g.215675318_215675319insG | CA2747717662 | USH2A | c.12592_12593insC (p.Lys4198ThrfsTer20)
| |
| 1 | g.215675319T>A | CA344850515 | USH2A | c.12592A>T (p.Lys4198Ter)
| |
| 1 | g.215675319T>C | CA344850516 | USH2A | c.12592A>G (p.Lys4198Glu)
| |
| 1 | g.215675319T>G | CA344850517 | USH2A | c.12592A>C (p.Lys4198Gln)
| |
| 1 | g.215675320T>A | CA423428487 | USH2A | c.12591A>T (p.Gly4197=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675320T>C | CA423428489 | USH2A | c.12591A>G (p.Gly4197=)
| |
| 1 | g.215675320T>G | CA423428490 | USH2A | c.12591A>C (p.Gly4197=)
| |
| 1 | g.215675321C>A | CA344850519 | USH2A | c.12590G>T (p.Gly4197Val)
| |
| 1 | g.215675321C= | CA1143328867 | USH2A | c.12590G= (p.Gly4197=)
| |
| 1 | g.215675321C>G | CA344850518 | USH2A | c.12590G>C (p.Gly4197Ala)
| |
| 1 | g.215675321C>T | CA1393443 | USH2A | c.12590G>A (p.Gly4197Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675321_215675322insATCTTCCAGTCTCCCCTTCCTCATCAATAGC | CA2747717663 | USH2A | c.12590_12591insCTATTGATGAGGAAGGGGAGACTGGAAGATG (p.Lys4198TyrfsTer2)
| |
| 1 | g.215675322C>A | CA344850521 | USH2A | c.12589G>T (p.Gly4197Ter)
| |
| 1 | g.215675322C= | CA1148272669 | USH2A | c.12589G= (p.Gly4197=)
| |
| 1 | g.215675322C>G | CA344850522 | USH2A | c.12589G>C (p.Gly4197Arg)
| |
| 1 | g.215675322C>T | CA1393444 | USH2A | c.12589G>A (p.Gly4197Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675323C>A | CA344850523 | USH2A | c.12588G>T (p.Glu4196Asp)
| |
| 1 | g.215675323C= | CA1220373886 | USH2A | c.12588G= (p.Glu4196=)
| |
| 1 | g.215675323C>G | CA344850524 | USH2A | c.12588G>C (p.Glu4196Asp)
| gnomAD v4 |
| 1 | g.215675323C>T | CA423428494 | USH2A | c.12588G>A (p.Glu4196=)
| ClinVar dbSNP |
| 1 | g.215675324T>A | CA344850525 | USH2A | c.12587A>T (p.Glu4196Val)
| |
| 1 | g.215675324T>C | CA344850526 | USH2A | c.12587A>G (p.Glu4196Gly)
| |
| 1 | g.215675324T>G | CA344850527 | USH2A | c.12587A>C (p.Glu4196Ala)
| |
| 1 | g.215675325C>A | CA1393445 | USH2A | c.12586G>T (p.Glu4196Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675325C= | CA1220373887 | USH2A | c.12586G= (p.Glu4196=)
| |
| 1 | g.215675325C>G | CA1393446 | USH2A | c.12586G>C (p.Glu4196Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675325C>T | CA344850530 | USH2A | c.12586G>A (p.Glu4196Lys)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675326G>A | CA1393447 | USH2A | c.12585C>T (p.Phe4195=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675326G>C | CA344850536 | USH2A | c.12585C>G (p.Phe4195Leu)
| |
| 1 | g.215675326G= | CA1220373888 | USH2A | c.12585C= (p.Phe4195=)
| |
| 1 | g.215675326G>T | CA344850533 | USH2A | c.12585C>A (p.Phe4195Leu)
| COSMIC COSMIC |
| 1 | g.215675327A= | CA1220373889 | USH2A | c.12584T= (p.Phe4195=)
| |
| 1 | g.215675327A>C | CA344850538 | USH2A | c.12584T>G (p.Phe4195Cys)
| |
| 1 | g.215675327A>G | CA344850541 | USH2A | c.12584T>C (p.Phe4195Ser)
| |
| 1 | g.215675327A>T | CA344850542 | USH2A | c.12584T>A (p.Phe4195Tyr)
| dbSNP |
| 1 | g.215675328del | CA2505391149 | USH2A | c.12584del (p.Phe4195SerfsTer?)
| |
| 1 | g.215675328A>C | CA344850545 | USH2A | c.12583T>G (p.Phe4195Val)
| |
| 1 | g.215675328A>G | CA344850550 | USH2A | c.12583T>C (p.Phe4195Leu)
| |
| 1 | g.215675328A>T | CA344850552 | USH2A | c.12583T>A (p.Phe4195Ile)
| |
| 1 | g.215675329G>A | CA423428500 | USH2A | c.12582C>T (p.Cys4194=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675329G>C | CA344850555 | USH2A | c.12582C>G (p.Cys4194Trp)
| |
| 1 | g.215675329G= | CA1220373890 | USH2A | c.12582C= (p.Cys4194=)
| |
| 1 | g.215675329G>T | CA344850556 | USH2A | c.12582C>A (p.Cys4194Ter)
| |
| 1 | g.215675330C>A | CA344850559 | USH2A | c.12581G>T (p.Cys4194Phe)
| |
| 1 | g.215675330C= | CA1220373891 | USH2A | c.12581G= (p.Cys4194=)
| |
| 1 | g.215675330C>G | CA344850561 | USH2A | c.12581G>C (p.Cys4194Ser)
| |
| 1 | g.215675330C>T | CA37413088 | USH2A | c.12581G>A (p.Cys4194Tyr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675331A= | CA1220373892 | USH2A | c.12580T= (p.Cys4194=)
| |
| 1 | g.215675331A>C | CA344850564 | USH2A | c.12580T>G (p.Cys4194Gly)
| |
| 1 | g.215675331A>G | CA344850567 | USH2A | c.12580T>C (p.Cys4194Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675331A>T | CA1393448 | USH2A | c.12580T>A (p.Cys4194Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675334_215675341del | CA1012179222 | USH2A | c.12573_12580del (p.Ile4191MetfsTer24)
| gnomAD v3 gnomAD v4 |
| 1 | g.215675332T>A | CA344850572 | USH2A | c.12579A>T (p.Arg4193Ser)
| gnomAD v4 |
| 1 | g.215675332T>C | CA423428503 | USH2A | c.12579A>G (p.Arg4193=)
| |
| 1 | g.215675332T>G | CA344850575 | USH2A | c.12579A>C (p.Arg4193Ser)
| |
| 1 | g.215675333C>A | CA344850581 | USH2A | c.12578G>T (p.Arg4193Ile)
| |
| 1 | g.215675333C= | CA1220373893 | USH2A | c.12578G= (p.Arg4193=)
| |
| 1 | g.215675333C>G | CA344850583 | USH2A | c.12578G>C (p.Arg4193Thr)
| ClinVar dbSNP |
| 1 | g.215675333C>T | CA344850585 | USH2A | c.12578G>A (p.Arg4193Lys)
| |
| 1 | g.215675334T>A | CA344850586 | USH2A | c.12577A>T (p.Arg4193Ter)
| |
| 1 | g.215675334T>C | CA344850588 | USH2A | c.12577A>G (p.Arg4193Gly)
| |
| 1 | g.215675334T>G | CA423428504 | USH2A | c.12577A>C (p.Arg4193=)
| |
| 1 | g.215675335G>A | CA423428505 | USH2A | c.12576C>T (p.Arg4192=)
| |
| 1 | g.215675335G>C | CA423428506 | USH2A | c.12576C>G (p.Arg4192=)
| |
| 1 | g.215675335G>T | CA423428507 | USH2A | c.12576C>A (p.Arg4192=)
| |
| 1 | g.215675336C>A | CA344850590 | USH2A | c.12575G>T (p.Arg4192Leu)
| ClinVar dbSNP COSMIC COSMIC |
| 1 | g.215675336C= | CA1143363434 | USH2A | c.12575G= (p.Arg4192=)
| |
| 1 | g.215675336C>G | CA344850592 | USH2A | c.12575G>C (p.Arg4192Pro)
| dbSNP |
| 1 | g.215675336C>T | CA179511 | USH2A | c.12575G>A (p.Arg4192His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675337G>A | CA1393449 | USH2A | c.12574C>T (p.Arg4192Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675337G>C | CA344850595 | USH2A | c.12574C>G (p.Arg4192Gly)
| |
| 1 | g.215675337G= | CA1220373894 | USH2A | c.12574C= (p.Arg4192=)
| |
| 1 | g.215675337G>T | CA344850596 | USH2A | c.12574C>A (p.Arg4192Ser)
| |
| 1 | g.215675338A>C | CA344850597 | USH2A | c.12573T>G (p.Ile4191Met)
| |
| 1 | g.215675338A>G | CA423428508 | USH2A | c.12573T>C (p.Ile4191=)
| gnomAD v4 |
| 1 | g.215675338A>T | CA423428509 | USH2A | c.12573T>A (p.Ile4191=)
| |
| 1 | g.215675339A>C | CA344850600 | USH2A | c.12572T>G (p.Ile4191Ser)
| |
| 1 | g.215675339A>G | CA344850599 | USH2A | c.12572T>C (p.Ile4191Thr)
| |
| 1 | g.215675339A>T | CA344850598 | USH2A | c.12572T>A (p.Ile4191Asn)
| |
| 1 | g.215675340T>A | CA344850602 | USH2A | c.12571A>T (p.Ile4191Phe)
| |
| 1 | g.215675340T>C | CA344850606 | USH2A | c.12571A>G (p.Ile4191Val)
| |
| 1 | g.215675340T>G | CA344850603 | USH2A | c.12571A>C (p.Ile4191Leu)
| |
| 1 | g.215675341C>A | CA423428510 | USH2A | c.12570G>T (p.Val4190=)
| |
| 1 | g.215675341C>G | CA423428511 | USH2A | c.12570G>C (p.Val4190=)
| COSMIC |
| 1 | g.215675341C>T | CA423428512 | USH2A | c.12570G>A (p.Val4190=)
| |
| 1 | g.215675342A= | CA1220373895 | USH2A | c.12569T= (p.Val4190=)
| |
| 1 | g.215675342A>C | CA344850609 | USH2A | c.12569T>G (p.Val4190Gly)
| |
| 1 | g.215675342A>G | CA37413100 | USH2A | c.12569T>C (p.Val4190Ala)
| ClinVar dbSNP |
| 1 | g.215675342A>T | CA344850611 | USH2A | c.12569T>A (p.Val4190Glu)
| |
| 1 | g.215675343C>A | CA344850614 | USH2A | c.12568G>T (p.Val4190Leu)
| |
| 1 | g.215675343C>G | CA344850617 | USH2A | c.12568G>C (p.Val4190Leu)
| |
| 1 | g.215675343C>T | CA344850620 | USH2A | c.12568G>A (p.Val4190Met)
| |
| 1 | g.215675344T>A | CA344850622 | USH2A | c.12567A>T (p.Glu4189Asp)
| |
| 1 | g.215675344T>C | CA423428513 | USH2A | c.12567A>G (p.Glu4189=)
| |
| 1 | g.215675344T>G | CA344850624 | USH2A | c.12567A>C (p.Glu4189Asp)
| |
| 1 | g.215675345T>A | CA344850625 | USH2A | c.12566A>T (p.Glu4189Val)
| |
| 1 | g.215675345T>C | CA344850626 | USH2A | c.12566A>G (p.Glu4189Gly)
| |
| 1 | g.215675345T>G | CA344850627 | USH2A | c.12566A>C (p.Glu4189Ala)
| |
| 1 | g.215675346C>A | CA344850630 | USH2A | c.12565G>T (p.Glu4189Ter)
| |
| 1 | g.215675346C>G | CA344850628 | USH2A | c.12565G>C (p.Glu4189Gln)
| |
| 1 | g.215675346C>T | CA344850629 | USH2A | c.12565G>A (p.Glu4189Lys)
| gnomAD v4 |
| 1 | g.215675347A>C | CA344850631 | USH2A | c.12564T>G (p.Tyr4188Ter)
| |
| 1 | g.215675347A>G | CA423428514 | USH2A | c.12564T>C (p.Tyr4188=)
| |
| 1 | g.215675347A>T | CA344850632 | USH2A | c.12564T>A (p.Tyr4188Ter)
| |
| 1 | g.215675348T>A | CA344850633 | USH2A | c.12563A>T (p.Tyr4188Phe)
| |
| 1 | g.215675348T>C | CA344850634 | USH2A | c.12563A>G (p.Tyr4188Cys)
| |
| 1 | g.215675348T>G | CA344850635 | USH2A | c.12563A>C (p.Tyr4188Ser)
| gnomAD v4 |
| 1 | g.215675349A>C | CA344850636 | USH2A | c.12562T>G (p.Tyr4188Asp)
| |
| 1 | g.215675349A>G | CA344850637 | USH2A | c.12562T>C (p.Tyr4188His)
| |
| 1 | g.215675349A>T | CA344850638 | USH2A | c.12562T>A (p.Tyr4188Asn)
| |
| 1 | g.215675350G>A | CA423428515 | USH2A | c.12561C>T (p.Arg4187=)
| |
| 1 | g.215675350G>C | CA423428516 | USH2A | c.12561C>G (p.Arg4187=)
| |
| 1 | g.215675350G>T | CA423428517 | USH2A | c.12561C>A (p.Arg4187=)
| |
| 1 | g.215675351C>A | CA1393451 | USH2A | c.12560G>T (p.Arg4187Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675351C= | CA1142169788 | USH2A | c.12560G= (p.Arg4187=)
| |
| 1 | g.215675351C>G | CA344850639 | USH2A | c.12560G>C (p.Arg4187Pro)
| ClinVar |
| 1 | g.215675351C>T | CA1393450 | USH2A | c.12560G>A (p.Arg4187His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675352G>A | CA1393452 | USH2A | c.12559C>T (p.Arg4187Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675352G>C | CA344850641 | USH2A | c.12559C>G (p.Arg4187Gly)
| |
| 1 | g.215675352G= | CA1220373896 | USH2A | c.12559C= (p.Arg4187=)
| |
| 1 | g.215675352G>T | CA344850640 | USH2A | c.12559C>A (p.Arg4187Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675353A= | CA1143656914 | USH2A | c.12558T= (p.Ile4186=)
| |
| 1 | g.215675353A>C | CA344850642 | USH2A | c.12558T>G (p.Ile4186Met)
| |
| 1 | g.215675353A>G | CA143294 | USH2A | c.12558T>C (p.Ile4186=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675353A>T | CA423428518 | USH2A | c.12558T>A (p.Ile4186=)
| dbSNP |
| 1 | g.215675354A= | CA1141249528 | USH2A | c.12557T= (p.Ile4186=)
| |
| 1 | g.215675354A>C | CA344850643 | USH2A | c.12557T>G (p.Ile4186Ser)
| |
| 1 | g.215675354A>G | CA143292 | USH2A | c.12557T>C (p.Ile4186Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675354A>T | CA344850644 | USH2A | c.12557T>A (p.Ile4186Asn)
| |
| 1 | g.215675355T>A | CA344850645 | USH2A | c.12556A>T (p.Ile4186Phe)
| |
| 1 | g.215675355T>C | CA344850646 | USH2A | c.12556A>G (p.Ile4186Val)
| |
| 1 | g.215675355T>G | CA344850647 | USH2A | c.12556A>C (p.Ile4186Leu)
| |
| 1 | g.215675356T>A | CA423428519 | USH2A | c.12555A>T (p.Ile4185=)
| |
| 1 | g.215675356T>C | CA344850648 | USH2A | c.12555A>G (p.Ile4185Met)
| |
| 1 | g.215675356T>G | CA423428520 | USH2A | c.12555A>C (p.Ile4185=)
| |
| 1 | g.215675357del | CA2586968175 | USH2A | c.12554del (p.Ile4185LysfsTer6)
| |
| 1 | g.215675357A= | CA1220373897 | USH2A | c.12554T= (p.Ile4185=)
| |
| 1 | g.215675357A>C | CA344850649 | USH2A | c.12554T>G (p.Ile4185Arg)
| |
| 1 | g.215675357A>G | CA344850650 | USH2A | c.12554T>C (p.Ile4185Thr)
| |
| 1 | g.215675357A>T | CA344850651 | USH2A | c.12554T>A (p.Ile4185Lys)
| ClinVar dbSNP |
| 1 | g.215675358T>A | CA344850653 | USH2A | c.12553A>T (p.Ile4185Leu)
| |
| 1 | g.215675358T>C | CA344850654 | USH2A | c.12553A>G (p.Ile4185Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675358T>G | CA344850652 | USH2A | c.12553A>C (p.Ile4185Leu)
| dbSNP |
| 1 | g.215675358T= | CA1220373898 | USH2A | c.12553A= (p.Ile4185=)
| |
| 1 | g.215675359T>A | CA344850655 | USH2A | c.12552A>T (p.Lys4184Asn)
| gnomAD v4 |
| 1 | g.215675359T>C | CA423428521 | USH2A | c.12552A>G (p.Lys4184=)
| |
| 1 | g.215675359T>G | CA344850656 | USH2A | c.12552A>C (p.Lys4184Asn)
| |
| 1 | g.215675360T>A | CA344850657 | USH2A | c.12551A>T (p.Lys4184Ile)
| COSMIC COSMIC |
| 1 | g.215675360T>C | CA344850658 | USH2A | c.12551A>G (p.Lys4184Arg)
| gnomAD v4 |
| 1 | g.215675360T>G | CA344850659 | USH2A | c.12551A>C (p.Lys4184Thr)
| |
| 1 | g.215675361T>A | CA344850662 | USH2A | c.12550A>T (p.Lys4184Ter)
| |
| 1 | g.215675361T>C | CA344850660 | USH2A | c.12550A>G (p.Lys4184Glu)
| COSMIC |
| 1 | g.215675361T>G | CA344850661 | USH2A | c.12550A>C (p.Lys4184Gln)
| |
| 1 | g.215675362T>A | CA423428522 | USH2A | c.12549A>T (p.Gly4183=)
| |
| 1 | g.215675362T>C | CA423428523 | USH2A | c.12549A>G (p.Gly4183=)
| |
| 1 | g.215675362T>G | CA423428524 | USH2A | c.12549A>C (p.Gly4183=)
| |
| 1 | g.215675363C>A | CA344850663 | USH2A | c.12548G>T (p.Gly4183Val)
| |
| 1 | g.215675363C>G | CA344850664 | USH2A | c.12548G>C (p.Gly4183Ala)
| |
| 1 | g.215675363C>T | CA344850665 | USH2A | c.12548G>A (p.Gly4183Glu)
| COSMIC COSMIC |
| 1 | g.215675364C>A | CA344850666 | USH2A | c.12547G>T (p.Gly4183Ter)
| |
| 1 | g.215675364C>G | CA344850667 | USH2A | c.12547G>C (p.Gly4183Arg)
| |
| 1 | g.215675364C>T | CA344850668 | USH2A | c.12547G>A (p.Gly4183Arg)
| |
| 1 | g.215675365A= | CA1220373899 | USH2A | c.12546T= (p.Asn4182=)
| |
| 1 | g.215675365A>C | CA344850669 | USH2A | c.12546T>G (p.Asn4182Lys)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675365A>G | CA423428525 | USH2A | c.12546T>C (p.Asn4182=)
| ClinVar dbSNP |
| 1 | g.215675365A>T | CA344850670 | USH2A | c.12546T>A (p.Asn4182Lys)
| |
| 1 | g.215675366T>A | CA344850671 | USH2A | c.12545A>T (p.Asn4182Ile)
| |
| 1 | g.215675366T>C | CA344850673 | USH2A | c.12545A>G (p.Asn4182Ser)
| |
| 1 | g.215675366T>G | CA344850672 | USH2A | c.12545A>C (p.Asn4182Thr)
| |
| 1 | g.215675367T>A | CA344850674 | USH2A | c.12544A>T (p.Asn4182Tyr)
| gnomAD v4 |
| 1 | g.215675367T>C | CA344850676 | USH2A | c.12544A>G (p.Asn4182Asp)
| |
| 1 | g.215675367T>G | CA344850675 | USH2A | c.12544A>C (p.Asn4182His)
| |
| 1 | g.215675368T>A | CA423428526 | USH2A | c.12543A>T (p.Pro4181=)
| dbSNP |
| 1 | g.215675368T>C | CA423428527 | USH2A | c.12543A>G (p.Pro4181=)
| |
| 1 | g.215675368T>G | CA423428528 | USH2A | c.12543A>C (p.Pro4181=)
| |
| 1 | g.215675369G>A | CA344850677 | USH2A | c.12542C>T (p.Pro4181Leu)
| |
| 1 | g.215675369G>C | CA344850678 | USH2A | c.12542C>G (p.Pro4181Arg)
| |
| 1 | g.215675369G>T | CA344850679 | USH2A | c.12542C>A (p.Pro4181Gln)
| gnomAD v4 |
| 1 | g.215675370G>A | CA344850680 | USH2A | c.12541C>T (p.Pro4181Ser)
| |
| 1 | g.215675370G>C | CA344850681 | USH2A | c.12541C>G (p.Pro4181Ala)
| |
| 1 | g.215675370G>T | CA344850682 | USH2A | c.12541C>A (p.Pro4181Thr)
| COSMIC COSMIC |
| 1 | g.215675371G>A | CA423428529 | USH2A | c.12540C>T (p.Asn4180=)
| ClinVar |
| 1 | g.215675371G>C | CA344850683 | USH2A | c.12540C>G (p.Asn4180Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675371G= | CA1220373900 | USH2A | c.12540C= (p.Asn4180=)
| |
| 1 | g.215675371G>T | CA344850684 | USH2A | c.12540C>A (p.Asn4180Lys)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215675372T>A | CA344850685 | USH2A | c.12539A>T (p.Asn4180Ile)
| |
| 1 | g.215675372T>C | CA344850686 | USH2A | c.12539A>G (p.Asn4180Ser)
| dbSNP |
| 1 | g.215675372T>G | CA344850687 | USH2A | c.12539A>C (p.Asn4180Thr)
| |
| 1 | g.215675372T= | CA1220373901 | USH2A | c.12539A= (p.Asn4180=)
| |
| 1 | g.215675373T>A | CA344850688 | USH2A | c.12538A>T (p.Asn4180Tyr)
| |
| 1 | g.215675373T>C | CA344850690 | USH2A | c.12538A>G (p.Asn4180Asp)
| gnomAD v4 |
| 1 | g.215675373T>G | CA344850689 | USH2A | c.12538A>C (p.Asn4180His)
| |
| 1 | g.215675374A>C | CA423428530 | USH2A | c.12537T>G (p.Val4179=)
| |
| 1 | g.215675374A>G | CA423428531 | USH2A | c.12537T>C (p.Val4179=)
| dbSNP |
| 1 | g.215675374A>T | CA423428532 | USH2A | c.12537T>A (p.Val4179=)
| |
| 1 | g.215675375A>C | CA344850691 | USH2A | c.12536T>G (p.Val4179Gly)
| |
| 1 | g.215675375A>G | CA344850692 | USH2A | c.12536T>C (p.Val4179Ala)
| |
| 1 | g.215675375A>T | CA344850693 | USH2A | c.12536T>A (p.Val4179Asp)
| |
| 1 | g.215675376C>A | CA344850694 | USH2A | c.12535G>T (p.Val4179Phe)
| |
| 1 | g.215675376C>G | CA344850695 | USH2A | c.12535G>C (p.Val4179Leu)
| |
| 1 | g.215675376C>T | CA344850696 | USH2A | c.12535G>A (p.Val4179Ile)
| |
| 1 | g.215675377A>C | CA423428533 | USH2A | c.12534T>G (p.Pro4178=)
| |
| 1 | g.215675377A>G | CA423428534 | USH2A | c.12534T>C (p.Pro4178=)
| |
| 1 | g.215675377A>T | CA423428535 | USH2A | c.12534T>A (p.Pro4178=)
| COSMIC COSMIC |
| 1 | g.215675378G>A | CA344850697 | USH2A | c.12533C>T (p.Pro4178Leu)
| |
| 1 | g.215675378G>C | CA344850698 | USH2A | c.12533C>G (p.Pro4178Arg)
| |
| 1 | g.215675378G>T | CA344850699 | USH2A | c.12533C>A (p.Pro4178His)
| |
| 1 | g.215675379G>A | CA344850701 | USH2A | c.12532C>T (p.Pro4178Ser)
| |
| 1 | g.215675379G>C | CA344850702 | USH2A | c.12532C>G (p.Pro4178Ala)
| COSMIC COSMIC |
| 1 | g.215675379G>T | CA344850700 | USH2A | c.12532C>A (p.Pro4178Thr)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215675385_215675394del | CA2573131593 | USH2A | c.12523_12532del (p.Trp4175LeufsTer8)
| ClinVar dbSNP |
| 1 | g.215675380C>A | CA344850703 | USH2A | c.12531G>T (p.Glu4177Asp)
| |
| 1 | g.215675380C= | CA1220373902 | USH2A | c.12531G= (p.Glu4177=)
| |
| 1 | g.215675380C>G | CA344850704 | USH2A | c.12531G>C (p.Glu4177Asp)
| |
| 1 | g.215675380C>T | CA423428536 | USH2A | c.12531G>A (p.Glu4177=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675381T>A | CA344850705 | USH2A | c.12530A>T (p.Glu4177Val)
| |
| 1 | g.215675381T>C | CA344850706 | USH2A | c.12530A>G (p.Glu4177Gly)
| |
| 1 | g.215675381T>G | CA344850707 | USH2A | c.12530A>C (p.Glu4177Ala)
| |
| 1 | g.215675381dup | CA2511248761 | USH2A | c.12530dup (p.Pro4178AlafsTer3)
| |
| 1 | g.215675382C>A | CA344850708 | USH2A | c.12529G>T (p.Glu4177Ter)
| |
| 1 | g.215675382C>G | CA344850709 | USH2A | c.12529G>C (p.Glu4177Gln)
| |
| 1 | g.215675382C>T | CA344850710 | USH2A | c.12529G>A (p.Glu4177Lys)
| |
| 1 | g.215675383A>C | CA423428537 | USH2A | c.12528T>G (p.Ser4176=)
| |
| 1 | g.215675383A>G | CA423428538 | USH2A | c.12528T>C (p.Ser4176=)
| |
| 1 | g.215675383A>T | CA423428539 | USH2A | c.12528T>A (p.Ser4176=)
| |
| 1 | g.215675384del | CA2541150355 | USH2A | c.12527del (p.Ser4176LeufsTer10)
| |
| 1 | g.215675384G>A | CA344850711 | USH2A | c.12527C>T (p.Ser4176Phe)
| |
| 1 | g.215675384G>C | CA344850712 | USH2A | c.12527C>G (p.Ser4176Cys)
| |
| 1 | g.215675384G>T | CA344850713 | USH2A | c.12527C>A (p.Ser4176Tyr)
| COSMIC COSMIC |
| 1 | g.215675385A= | CA1220373903 | USH2A | c.12526T= (p.Ser4176=)
| |
| 1 | g.215675385A>C | CA344850715 | USH2A | c.12526T>G (p.Ser4176Ala)
| |
| 1 | g.215675385A>G | CA344850716 | USH2A | c.12526T>C (p.Ser4176Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675385A>T | CA344850714 | USH2A | c.12526T>A (p.Ser4176Thr)
| |
| 1 | g.215675386C>A | CA344850717 | USH2A | c.12525G>T (p.Trp4175Cys)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675386C= | CA1220373904 | USH2A | c.12525G= (p.Trp4175=)
| |
| 1 | g.215675386C>G | CA344850718 | USH2A | c.12525G>C (p.Trp4175Cys)
| ClinVar dbSNP |
| 1 | g.215675386C>T | CA344850719 | USH2A | c.12525G>A (p.Trp4175Ter)
| ClinVar dbSNP |
| 1 | g.215675387C>A | CA344850720 | USH2A | c.12524G>T (p.Trp4175Leu)
| |
| 1 | g.215675387C>G | CA344850721 | USH2A | c.12524G>C (p.Trp4175Ser)
| |
| 1 | g.215675387C>T | CA344850722 | USH2A | c.12524G>A (p.Trp4175Ter)
| |
| 1 | g.215675394_215675398dup | CA529002030 | USH2A | c.12520_12524dup (p.Trp4175Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675388A= | CA1220373905 | USH2A | c.12523T= (p.Trp4175=)
| |
| 1 | g.215675388A>C | CA344850723 | USH2A | c.12523T>G (p.Trp4175Gly)
| |
| 1 | g.215675388A>G | CA344850725 | USH2A | c.12523T>C (p.Trp4175Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675388A>T | CA344850724 | USH2A | c.12523T>A (p.Trp4175Arg)
| |
| 1 | g.215675389G>A | CA423428540 | USH2A | c.12522C>T (p.Ser4174=)
| ClinVar dbSNP |
| 1 | g.215675389G>C | CA1393453 | USH2A | c.12522C>G (p.Ser4174Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675389G= | CA1220373906 | USH2A | c.12522C= (p.Ser4174=)
| |
| 1 | g.215675389G>T | CA344850726 | USH2A | c.12522C>A (p.Ser4174Arg)
| COSMIC |
| 1 | g.215675390C>A | CA344850727 | USH2A | c.12521G>T (p.Ser4174Ile)
| |
| 1 | g.215675390C>G | CA344850728 | USH2A | c.12521G>C (p.Ser4174Thr)
| |
| 1 | g.215675390C>T | CA344850729 | USH2A | c.12521G>A (p.Ser4174Asn)
| |
| 1 | g.215675391T>A | CA344850731 | USH2A | c.12520A>T (p.Ser4174Cys)
| |
| 1 | g.215675391T>C | CA344850732 | USH2A | c.12520A>G (p.Ser4174Gly)
| |
| 1 | g.215675391T>G | CA344850730 | USH2A | c.12520A>C (p.Ser4174Arg)
| |
| 1 | g.215675392C>A | CA423428541 | USH2A | c.12519G>T (p.Leu4173=)
| |
| 1 | g.215675392C>G | CA423428542 | USH2A | c.12519G>C (p.Leu4173=)
| ClinVar |
| 1 | g.215675392C>T | CA423428543 | USH2A | c.12519G>A (p.Leu4173=)
| |
| 1 | g.215675393A>C | CA344850735 | USH2A | c.12518T>G (p.Leu4173Arg)
| |
| 1 | g.215675393A>G | CA344850733 | USH2A | c.12518T>C (p.Leu4173Pro)
| |
| 1 | g.215675393A>T | CA344850734 | USH2A | c.12518T>A (p.Leu4173Gln)
| COSMIC |
| 1 | g.215675394G>A | CA423311290 | USH2A | c.12517C>T (p.Leu4173=)
| |
| 1 | g.215675394G>C | CA344850736 | USH2A | c.12517C>G (p.Leu4173Val)
| |
| 1 | g.215675394G>T | CA344850737 | USH2A | c.12517C>A (p.Leu4173Met)
| |
| 1 | g.215675395C>A | CA344850738 | USH2A | c.12516G>T (p.Glu4172Asp)
| |
| 1 | g.215675395C>G | CA344850739 | USH2A | c.12516G>C (p.Glu4172Asp)
| gnomAD v4 |
| 1 | g.215675395C>T | CA423311294 | USH2A | c.12516G>A (p.Glu4172=)
| |
| 1 | g.215675396T>A | CA344850740 | USH2A | c.12515A>T (p.Glu4172Val)
| |
| 1 | g.215675396T>C | CA344850741 | USH2A | c.12515A>G (p.Glu4172Gly)
| |
| 1 | g.215675396T>G | CA344850742 | USH2A | c.12515A>C (p.Glu4172Ala)
| |
| 1 | g.215675397C>A | CA344850743 | USH2A | c.12514G>T (p.Glu4172Ter)
| |
| 1 | g.215675397C= | CA1220373907 | USH2A | c.12514G= (p.Glu4172=)
| |
| 1 | g.215675397C>G | CA344850744 | USH2A | c.12514G>C (p.Glu4172Gln)
| |
| 1 | g.215675397C>T | CA1393454 | USH2A | c.12514G>A (p.Glu4172Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675398A= | CA1220373908 | USH2A | c.12513T= (p.Val4171=)
| |
| 1 | g.215675398A>C | CA423311303 | USH2A | c.12513T>G (p.Val4171=)
| |
| 1 | g.215675398A>G | CA423311305 | USH2A | c.12513T>C (p.Val4171=)
| |
| 1 | g.215675398A>T | CA1393455 | USH2A | c.12513T>A (p.Val4171=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675399A>C | CA344850747 | USH2A | c.12512T>G (p.Val4171Gly)
| |
| 1 | g.215675399A>G | CA344850745 | USH2A | c.12512T>C (p.Val4171Ala)
| |
| 1 | g.215675399A>T | CA344850746 | USH2A | c.12512T>A (p.Val4171Asp)
| |
| 1 | g.215675400C>A | CA344850748 | USH2A | c.12511G>T (p.Val4171Phe)
| |
| 1 | g.215675400C>G | CA344850749 | USH2A | c.12511G>C (p.Val4171Leu)
| |
| 1 | g.215675400C>T | CA344850750 | USH2A | c.12511G>A (p.Val4171Ile)
| |
| 1 | g.215675401A= | CA1220373909 | USH2A | c.12510T= (p.Ser4170=)
| |
| 1 | g.215675401A>C | CA1393456 | USH2A | c.12510T>G (p.Ser4170Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675401A>G | CA423311317 | USH2A | c.12510T>C (p.Ser4170=)
| ClinVar |
| 1 | g.215675401A>T | CA344850751 | USH2A | c.12510T>A (p.Ser4170Arg)
| |
| 1 | g.215675402C>A | CA344850752 | USH2A | c.12509G>T (p.Ser4170Ile)
| |
| 1 | g.215675402C= | CA1220373910 | USH2A | c.12509G= (p.Ser4170=)
| |
| 1 | g.215675402C>G | CA344850753 | USH2A | c.12509G>C (p.Ser4170Thr)
| dbSNP |
| 1 | g.215675402C>T | CA344850754 | USH2A | c.12509G>A (p.Ser4170Asn)
| ClinVar |
| 1 | g.215675403T>A | CA344850755 | USH2A | c.12508A>T (p.Ser4170Cys)
| |
| 1 | g.215675403T>C | CA344850756 | USH2A | c.12508A>G (p.Ser4170Gly)
| |
| 1 | g.215675403T>G | CA344850757 | USH2A | c.12508A>C (p.Ser4170Arg)
| |
| 1 | g.215675404G>A | CA37413133 | USH2A | c.12507C>T (p.Thr4169=)
| ClinVar dbSNP |
| 1 | g.215675404G>C | CA423311327 | USH2A | c.12507C>G (p.Thr4169=)
| |
| 1 | g.215675404G= | CA1220373911 | USH2A | c.12507C= (p.Thr4169=)
| |
| 1 | g.215675404G>T | CA423311329 | USH2A | c.12507C>A (p.Thr4169=)
| |
| 1 | g.215675405G>A | CA344850760 | USH2A | c.12506C>T (p.Thr4169Ile)
| gnomAD v4 |
| 1 | g.215675405G>C | CA344850759 | USH2A | c.12506C>G (p.Thr4169Ser)
| |
| 1 | g.215675405G>T | CA344850758 | USH2A | c.12506C>A (p.Thr4169Asn)
| gnomAD v4 |
| 1 | g.215675406_215675407del | CA2695199974 | USH2A | c.12505_12506del (p.Thr4169GlnfsTer3)
| ClinVar |
| 1 | g.215675406T>A | CA344850761 | USH2A | c.12505A>T (p.Thr4169Ser)
| |
| 1 | g.215675406T>C | CA179513 | USH2A | c.12505A>G (p.Thr4169Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675406T>G | CA344850762 | USH2A | c.12505A>C (p.Thr4169Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675406T= | CA1141314997 | USH2A | c.12505A= (p.Thr4169=)
| |
