Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.215673953_215675415del | CA1139656543 | USH2A | c.12497_13811+148del | ClinVar |
1 | g.215675294_215675296del | CA2569469968 | USH2A | c.12615_12617del (p.Ile4205_Gln4206delinsMet) | |
1 | g.215675296G>A | CA423428431 | USH2A | c.12615C>T (p.Ile4205=) | |
1 | g.215675296G>C | CA344850396 | USH2A | c.12615C>G (p.Ile4205Met) | |
1 | g.215675296G= | CA1220373879 | USH2A | c.12615C= (p.Ile4205=) | |
1 | g.215675296G>T | CA423428433 | USH2A | c.12615C>A (p.Ile4205=) | dbSNP COSMIC COSMIC |
1 | g.215675297A>C | CA344850399 | USH2A | c.12614T>G (p.Ile4205Ser) | |
1 | g.215675297A>G | CA344850401 | USH2A | c.12614T>C (p.Ile4205Thr) | ClinVar |
1 | g.215675297A>T | CA344850402 | USH2A | c.12614T>A (p.Ile4205Asn) | |
1 | g.215675298T>A | CA344850404 | USH2A | c.12613A>T (p.Ile4205Phe) | |
1 | g.215675298T>C | CA344850405 | USH2A | c.12613A>G (p.Ile4205Val) | |
1 | g.215675298T>G | CA344850407 | USH2A | c.12613A>C (p.Ile4205Leu) | |
1 | g.215675299T>A | CA423428441 | USH2A | c.12612A>T (p.Thr4204=) | dbSNP |
1 | g.215675299T>C | CA181134 | USH2A | c.12612A>G (p.Thr4204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675299T>G | CA423428442 | USH2A | c.12612A>C (p.Thr4204=) | |
1 | g.215675299T= | CA179509 | USH2A | c.12612A= (p.Thr4204=) | |
1 | g.215675299_215675300delinsCA | CA2573131588 | USH2A | c.12611_12612delinsTG (p.Thr4204Met) | ClinVar |
1 | g.215675300G>A | CA1393440 | USH2A | c.12611C>T (p.Thr4204Ile) c.12611C>T (p.Thr4204Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.215675300G>C | CA344850413 | USH2A | c.12611C>G (p.Thr4204Arg) | |
1 | g.215675300G= | CA1220373880 | USH2A | c.12611C= (p.Thr4204=) | |
1 | g.215675300G>T | CA344850411 | USH2A | c.12611C>A (p.Thr4204Lys) | |
1 | g.215675301T>A | CA344850416 | USH2A | c.12610A>T (p.Thr4204Ser) | |
1 | g.215675301T>C | CA344850418 | USH2A | c.12610A>G (p.Thr4204Ala) | dbSNP gnomAD v2 |
1 | g.215675301T>G | CA344850424 | USH2A | c.12610A>C (p.Thr4204Pro) | |
1 | g.215675301T= | CA1220373881 | USH2A | c.12610A= (p.Thr4204=) | |
1 | g.215675301_215675302insTGCT | CA2531373683 | USH2A | c.12610_12611insGCAA (p.Thr4204SerfsTer15) | |
1 | g.215675302C>A | CA344850426 | USH2A | c.12609G>T (p.Gln4203His) | |
1 | g.215675302C>G | CA344850427 | USH2A | c.12609G>C (p.Gln4203His) | |
1 | g.215675302C>T | CA423428448 | USH2A | c.12609G>A (p.Gln4203=) | COSMIC COSMIC |
1 | g.215675303T>A | CA344850428 | USH2A | c.12608A>T (p.Gln4203Leu) | |
1 | g.215675303T>C | CA143296 | USH2A | c.12608A>G (p.Gln4203Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.215675303T>G | CA344850433 | USH2A | c.12608A>C (p.Gln4203Pro) | |
1 | g.215675303T= | CA1142248300 | USH2A | c.12608A= (p.Gln4203=) | |
1 | g.215675304G>A | CA344850437 | USH2A | c.12607C>T (p.Gln4203Ter) | |
1 | g.215675304G>C | CA344850447 | USH2A | c.12607C>G (p.Gln4203Glu) | |
1 | g.215675304G>T | CA344850450 | USH2A | c.12607C>A (p.Gln4203Lys) | |
1 | g.215675305A>C | CA344850452 | USH2A | c.12606T>G (p.Asn4202Lys) | |
1 | g.215675305A>G | CA423428457 | USH2A | c.12606T>C (p.Asn4202=) | |
1 | g.215675305A>T | CA344850454 | USH2A | c.12606T>A (p.Asn4202Lys) | gnomAD v4 |
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) |