| 1 | g.216246764A>C | CA344864383 | USH2A | c.2630T>G (p.Leu877Arg)
| gnomAD v4 |
| 1 | g.216246764A>G | CA344864384 | USH2A | c.2630T>C (p.Leu877Pro)
| |
| 1 | g.216246764A>T | CA344864385 | USH2A | c.2630T>A (p.Leu877His)
| |
| 1 | g.216246764_216246765insTCA | CA2650512850 | USH2A | c.2630_2631insGAT (p.Leu877_Arg878insIle)
| gnomAD v4 |
| 1 | g.216246765G>A | CA344864386 | USH2A | c.2629C>T (p.Leu877Phe)
| |
| 1 | g.216246765G>C | CA344864387 | USH2A | c.2629C>G (p.Leu877Val)
| |
| 1 | g.216246765G>T | CA344864388 | USH2A | c.2629C>A (p.Leu877Ile)
| COSMIC COSMIC COSMIC |
| 1 | g.216246765_216246766insTGTGAC | CA2650512851 | USH2A | c.2628_2629insGTCACA (p.Gly876_Leu877insValThr)
| gnomAD v4 |
| 1 | g.216246766A= | CA1220619112 | USH2A | c.2628T= (p.Gly876=)
| |
| 1 | g.216246766A>C | CA423322816 | USH2A | c.2628T>G (p.Gly876=)
| |
| 1 | g.216246766A>G | CA423322817 | USH2A | c.2628T>C (p.Gly876=)
| |
| 1 | g.216246766A>T | CA37501168 | USH2A | c.2628T>A (p.Gly876=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246767C>A | CA344864389 | USH2A | c.2627G>T (p.Gly876Val)
| |
| 1 | g.216246767C= | CA1220619113 | USH2A | c.2627G= (p.Gly876=)
| |
| 1 | g.216246767C>G | CA344864390 | USH2A | c.2627G>C (p.Gly876Ala)
| |
| 1 | g.216246767C>T | CA1396199 | USH2A | c.2627G>A (p.Gly876Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246768C>A | CA344864391 | USH2A | c.2626G>T (p.Gly876Cys)
| COSMIC COSMIC COSMIC |
| 1 | g.216246768C= | CA1220619114 | USH2A | c.2626G= (p.Gly876=)
| |
| 1 | g.216246768C>G | CA344864392 | USH2A | c.2626G>C (p.Gly876Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246768C>T | CA344864393 | USH2A | c.2626G>A (p.Gly876Ser)
| |
| 1 | g.216246769T>A | CA423322818 | USH2A | c.2625A>T (p.Thr875=)
| |
| 1 | g.216246769T>C | CA423322819 | USH2A | c.2625A>G (p.Thr875=)
| gnomAD v4 |
| 1 | g.216246769T>G | CA423322820 | USH2A | c.2625A>C (p.Thr875=)
| |
| 1 | g.216246770G>A | CA344864396 | USH2A | c.2624C>T (p.Thr875Ile)
| |
| 1 | g.216246770G>C | CA344864395 | USH2A | c.2624C>G (p.Thr875Arg)
| |
| 1 | g.216246770G>T | CA344864394 | USH2A | c.2624C>A (p.Thr875Lys)
| COSMIC COSMIC COSMIC |
| 1 | g.216246771T>A | CA344864397 | USH2A | c.2623A>T (p.Thr875Ser)
| |
| 1 | g.216246771T>C | CA344864398 | USH2A | c.2623A>G (p.Thr875Ala)
| |
| 1 | g.216246771T>G | CA344864399 | USH2A | c.2623A>C (p.Thr875Pro)
| |
| 1 | g.216246772T>A | CA37501176 | USH2A | c.2622A>T (p.Val874=)
| dbSNP |
| 1 | g.216246772T>C | CA423322821 | USH2A | c.2622A>G (p.Val874=)
| |
| 1 | g.216246772T>G | CA423322822 | USH2A | c.2622A>C (p.Val874=)
| |
| 1 | g.216246772T= | CA1220619115 | USH2A | c.2622A= (p.Val874=)
| |
| 1 | g.216246773A= | CA1220619116 | USH2A | c.2621T= (p.Val874=)
| |
| 1 | g.216246773A>C | CA344864400 | USH2A | c.2621T>G (p.Val874Gly)
| |
| 1 | g.216246773A>G | CA344864401 | USH2A | c.2621T>C (p.Val874Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246773A>T | CA344864402 | USH2A | c.2621T>A (p.Val874Glu)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216246774C>A | CA344864403 | USH2A | c.2620G>T (p.Val874Leu)
| gnomAD v4 |
| 1 | g.216246774C>G | CA344864404 | USH2A | c.2620G>C (p.Val874Leu)
| |
| 1 | g.216246774C>T | CA344864405 | USH2A | c.2620G>A (p.Val874Ile)
| |
| 1 | g.216246775C>A | CA423322823 | USH2A | c.2619G>T (p.Gly873=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216246775C= | CA1220619117 | USH2A | c.2619G= (p.Gly873=)
| |
| 1 | g.216246775C>G | CA423322824 | USH2A | c.2619G>C (p.Gly873=)
| |
| 1 | g.216246775C>T | CA1396200 | USH2A | c.2619G>A (p.Gly873=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246776C>A | CA344864406 | USH2A | c.2618G>T (p.Gly873Val)
| |
| 1 | g.216246776C>G | CA344864407 | USH2A | c.2618G>C (p.Gly873Ala)
| |
| 1 | g.216246776C>T | CA344864408 | USH2A | c.2618G>A (p.Gly873Glu)
| |
| 1 | g.216246777C>A | CA344864409 | USH2A | c.2617G>T (p.Gly873Trp)
| |
| 1 | g.216246777C= | CA1220619119 | USH2A | c.2617G= (p.Gly873=)
| |
| 1 | g.216246777C>G | CA344864410 | USH2A | c.2617G>C (p.Gly873Arg)
| |
| 1 | g.216246777C>T | CA37501180 | USH2A | c.2617G>A (p.Gly873Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246777_216246778del | CA913072828 | USH2A | c.2616_2617del (p.Val874AsnfsTer6)
| |
| 1 | g.216246777_216246778delinsCT | CA1220619118 | USH2A | c.2616_2617delinsAG (p.Leu872=)
| |
| 1 | g.216246778del | CA658823242 | USH2A | c.2616del (p.Val874Ter)
| ClinVar dbSNP |
| 1 | g.216246778T>A | CA344864411 | USH2A | c.2616A>T (p.Leu872Phe)
| |
| 1 | g.216246778T>C | CA423322825 | USH2A | c.2616A>G (p.Leu872=)
| |
| 1 | g.216246778T>G | CA344864412 | USH2A | c.2616A>C (p.Leu872Phe)
| |
| 1 | g.216246779A>C | CA344864413 | USH2A | c.2615T>G (p.Leu872Ter)
| |
| 1 | g.216246779A>G | CA344864414 | USH2A | c.2615T>C (p.Leu872Ser)
| |
| 1 | g.216246779A>T | CA344864415 | USH2A | c.2615T>A (p.Leu872Ter)
| |
| 1 | g.216246780A>C | CA344864416 | USH2A | c.2614T>G (p.Leu872Val)
| |
| 1 | g.216246780A>G | CA423322826 | USH2A | c.2614T>C (p.Leu872=)
| |
| 1 | g.216246780A>T | CA344864417 | USH2A | c.2614T>A (p.Leu872Ile)
| |
| 1 | g.216246781T>A | CA344864418 | USH2A | c.2613A>T (p.Lys871Asn)
| |
| 1 | g.216246781T>C | CA423322827 | USH2A | c.2613A>G (p.Lys871=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246781T>G | CA344864419 | USH2A | c.2613A>C (p.Lys871Asn)
| |
| 1 | g.216246781T= | CA1220619120 | USH2A | c.2613A= (p.Lys871=)
| |
| 1 | g.216246782T>A | CA344864420 | USH2A | c.2612A>T (p.Lys871Ile)
| |
| 1 | g.216246782T>C | CA344864421 | USH2A | c.2612A>G (p.Lys871Arg)
| |
| 1 | g.216246782T>G | CA344864422 | USH2A | c.2612A>C (p.Lys871Thr)
| |
| 1 | g.216246783T>A | CA344864425 | USH2A | c.2611A>T (p.Lys871Ter)
| |
| 1 | g.216246783T>C | CA344864423 | USH2A | c.2611A>G (p.Lys871Glu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246783T>G | CA344864424 | USH2A | c.2611A>C (p.Lys871Gln)
| |
| 1 | g.216246783T= | CA1220619121 | USH2A | c.2611A= (p.Lys871=)
| |
| 1 | g.216246784G>A | CA423322828 | USH2A | c.2610C>T (p.Cys870=)
| |
| 1 | g.216246784G>C | CA1396202 | USH2A | c.2610C>G (p.Cys870Trp)
| dbSNP ExAC gnomAD v4 |
| 1 | g.216246784G= | CA1220619122 | USH2A | c.2610C= (p.Cys870=)
| |
| 1 | g.216246784G>T | CA1396201 | USH2A | c.2610C>A (p.Cys870Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246785C>A | CA1396203 | USH2A | c.2609G>T (p.Cys870Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246785C= | CA1220619123 | USH2A | c.2609G= (p.Cys870=)
| |
| 1 | g.216246785C>G | CA344864426 | USH2A | c.2609G>C (p.Cys870Ser)
| |
| 1 | g.216246785C>T | CA344864427 | USH2A | c.2609G>A (p.Cys870Tyr)
| gnomAD v4 |
| 1 | g.216246786A= | CA1220619124 | USH2A | c.2608T= (p.Cys870=)
| |
| 1 | g.216246786A>C | CA344864428 | USH2A | c.2608T>G (p.Cys870Gly)
| dbSNP |
| 1 | g.216246786A>G | CA344864429 | USH2A | c.2608T>C (p.Cys870Arg)
| |
| 1 | g.216246786A>T | CA344864430 | USH2A | c.2608T>A (p.Cys870Ser)
| |
| 1 | g.216246787A>C | CA423431583 | USH2A | c.2607T>G (p.Pro869=)
| |
| 1 | g.216246787A>G | CA423431584 | USH2A | c.2607T>C (p.Pro869=)
| |
| 1 | g.216246787A>T | CA423431586 | USH2A | c.2607T>A (p.Pro869=)
| |
| 1 | g.216246788G>A | CA344864431 | USH2A | c.2606C>T (p.Pro869Leu)
| dbSNP gnomAD v4 |
| 1 | g.216246788G>C | CA344864432 | USH2A | c.2606C>G (p.Pro869Arg)
| |
| 1 | g.216246788G= | CA1220619125 | USH2A | c.2606C= (p.Pro869=)
| |
| 1 | g.216246788G>T | CA344864433 | USH2A | c.2606C>A (p.Pro869His)
| dbSNP |
| 1 | g.216246789G>A | CA344864436 | USH2A | c.2605C>T (p.Pro869Ser)
| dbSNP COSMIC |
| 1 | g.216246789G>C | CA344864435 | USH2A | c.2605C>G (p.Pro869Ala)
| |
| 1 | g.216246789G= | CA1220619126 | USH2A | c.2605C= (p.Pro869=)
| |
| 1 | g.216246789G>T | CA344864434 | USH2A | c.2605C>A (p.Pro869Thr)
| |
| 1 | g.216246790A>C | CA344864437 | USH2A | c.2604T>G (p.Cys868Trp)
| |
| 1 | g.216246790A>G | CA423431601 | USH2A | c.2604T>C (p.Cys868=)
| gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246790A>T | CA344864438 | USH2A | c.2604T>A (p.Cys868Ter)
| |
| 1 | g.216246791C>A | CA344864439 | USH2A | c.2603G>T (p.Cys868Phe)
| |
| 1 | g.216246791C>G | CA344864441 | USH2A | c.2603G>C (p.Cys868Ser)
| |
| 1 | g.216246791C>T | CA344864440 | USH2A | c.2603G>A (p.Cys868Tyr)
| COSMIC COSMIC COSMIC |
| 1 | g.216246792A>C | CA344864442 | USH2A | c.2602T>G (p.Cys868Gly)
| gnomAD v4 |
| 1 | g.216246792A>G | CA344864443 | USH2A | c.2602T>C (p.Cys868Arg)
| gnomAD v4 |
| 1 | g.216246792A>T | CA344864444 | USH2A | c.2602T>A (p.Cys868Ser)
| |
| 1 | g.216246793T>A | CA344864445 | USH2A | c.2601A>T (p.Gln867His)
| |
| 1 | g.216246793T>C | CA423431604 | USH2A | c.2601A>G (p.Gln867=)
| ClinVar gnomAD v4 |
| 1 | g.216246793T>G | CA344864446 | USH2A | c.2601A>C (p.Gln867His)
| |
| 1 | g.216246794T>A | CA344864447 | USH2A | c.2600A>T (p.Gln867Leu)
| |
| 1 | g.216246794T>C | CA344864448 | USH2A | c.2600A>G (p.Gln867Arg)
| |
| 1 | g.216246794T>G | CA344864449 | USH2A | c.2600A>C (p.Gln867Pro)
| dbSNP gnomAD v4 |
| 1 | g.216246794T= | CA1220619127 | USH2A | c.2600A= (p.Gln867=)
| |
| 1 | g.216246795G>A | CA344864450 | USH2A | c.2599C>T (p.Gln867Ter)
| ClinVar dbSNP |
| 1 | g.216246795G>C | CA344864451 | USH2A | c.2599C>G (p.Gln867Glu)
| |
| 1 | g.216246795G= | CA1220619128 | USH2A | c.2599C= (p.Gln867=)
| |
| 1 | g.216246795G>T | CA344864452 | USH2A | c.2599C>A (p.Gln867Lys)
| |
| 1 | g.216246796T>A | CA423431617 | USH2A | c.2598A>T (p.Gly866=)
| |
| 1 | g.216246796T>C | CA423431621 | USH2A | c.2598A>G (p.Gly866=)
| |
| 1 | g.216246796T>G | CA423431619 | USH2A | c.2598A>C (p.Gly866=)
| |
| 1 | g.216246797C>A | CA344864455 | USH2A | c.2597G>T (p.Gly866Val)
| |
| 1 | g.216246797C>G | CA344864454 | USH2A | c.2597G>C (p.Gly866Ala)
| |
| 1 | g.216246797C>T | CA344864453 | USH2A | c.2597G>A (p.Gly866Glu)
| gnomAD v4 |
| 1 | g.216246798C>A | CA344864456 | USH2A | c.2596G>T (p.Gly866Ter)
| |
| 1 | g.216246798C>G | CA344864457 | USH2A | c.2596G>C (p.Gly866Arg)
| |
| 1 | g.216246798C>T | CA344864458 | USH2A | c.2596G>A (p.Gly866Arg)
| |
| 1 | g.216246799T>A | CA423431627 | USH2A | c.2595A>T (p.Thr865=)
| |
| 1 | g.216246799T>C | CA423431628 | USH2A | c.2595A>G (p.Thr865=)
| |
| 1 | g.216246799T>G | CA423431629 | USH2A | c.2595A>C (p.Thr865=)
| |
| 1 | g.216246800G>A | CA344864459 | USH2A | c.2594C>T (p.Thr865Ile)
| dbSNP gnomAD v4 |
| 1 | g.216246800G>C | CA344864460 | USH2A | c.2594C>G (p.Thr865Arg)
| |
| 1 | g.216246800G= | CA1220619129 | USH2A | c.2594C= (p.Thr865=)
| |
| 1 | g.216246800G>T | CA344864461 | USH2A | c.2594C>A (p.Thr865Lys)
| gnomAD v4 |
| 1 | g.216246801T>A | CA344864462 | USH2A | c.2593A>T (p.Thr865Ser)
| |
| 1 | g.216246801T>C | CA344864463 | USH2A | c.2593A>G (p.Thr865Ala)
| |
| 1 | g.216246801T>G | CA344864464 | USH2A | c.2593A>C (p.Thr865Pro)
| |
| 1 | g.216246802T>A | CA423431637 | USH2A | c.2592A>T (p.Ser864=)
| |
| 1 | g.216246802T>C | CA423431639 | USH2A | c.2592A>G (p.Ser864=)
| ClinVar |
| 1 | g.216246802T>G | CA423431641 | USH2A | c.2592A>C (p.Ser864=)
| |
| 1 | g.216246803G>A | CA344864465 | USH2A | c.2591C>T (p.Ser864Leu)
| |
| 1 | g.216246803G>C | CA344864466 | USH2A | c.2591C>G (p.Ser864Ter)
| |
| 1 | g.216246803G>T | CA344864467 | USH2A | c.2591C>A (p.Ser864Ter)
| |
| 1 | g.216246804A>C | CA344864470 | USH2A | c.2590T>G (p.Ser864Ala)
| |
| 1 | g.216246804A>G | CA344864469 | USH2A | c.2590T>C (p.Ser864Pro)
| gnomAD v4 |
| 1 | g.216246804A>T | CA344864468 | USH2A | c.2590T>A (p.Ser864Thr)
| |
| 1 | g.216246805T>A | CA344864471 | USH2A | c.2589A>T (p.Lys863Asn)
| gnomAD v4 |
| 1 | g.216246805T>C | CA1396204 | USH2A | c.2589A>G (p.Lys863=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246805T>G | CA344864472 | USH2A | c.2589A>C (p.Lys863Asn)
| |
| 1 | g.216246805T= | CA1220619130 | USH2A | c.2589A= (p.Lys863=)
| |
| 1 | g.216246806T>A | CA344864473 | USH2A | c.2588A>T (p.Lys863Ile)
| |
| 1 | g.216246806T>C | CA1396205 | USH2A | c.2588A>G (p.Lys863Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246806T>G | CA344864474 | USH2A | c.2588A>C (p.Lys863Thr)
| |
| 1 | g.216246806T= | CA1220619131 | USH2A | c.2588A= (p.Lys863=)
| |
| 1 | g.216246807T>A | CA344864477 | USH2A | c.2587A>T (p.Lys863Ter)
| |
| 1 | g.216246807T>C | CA344864475 | USH2A | c.2587A>G (p.Lys863Glu)
| |
| 1 | g.216246807T>G | CA344864476 | USH2A | c.2587A>C (p.Lys863Gln)
| |
| 1 | g.216246808G>A | CA423431657 | USH2A | c.2586C>T (p.Asn862=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246808G>C | CA344864478 | USH2A | c.2586C>G (p.Asn862Lys)
| |
| 1 | g.216246808G= | CA1220619132 | USH2A | c.2586C= (p.Asn862=)
| |
| 1 | g.216246808G>T | CA344864479 | USH2A | c.2586C>A (p.Asn862Lys)
| gnomAD v4 |
| 1 | g.216246809T>A | CA344864480 | USH2A | c.2585A>T (p.Asn862Ile)
| |
| 1 | g.216246809T>C | CA1396206 | USH2A | c.2585A>G (p.Asn862Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246809T>G | CA344864481 | USH2A | c.2585A>C (p.Asn862Thr)
| COSMIC |
| 1 | g.216246809T= | CA1220619133 | USH2A | c.2585A= (p.Asn862=)
| |
| 1 | g.216246810T>A | CA1396207 | USH2A | c.2584A>T (p.Asn862Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246810T>C | CA344864483 | USH2A | c.2584A>G (p.Asn862Asp)
| dbSNP |
| 1 | g.216246810T>G | CA344864482 | USH2A | c.2584A>C (p.Asn862His)
| gnomAD v4 |
| 1 | g.216246810T= | CA1220619134 | USH2A | c.2584A= (p.Asn862=)
| |
| 1 | g.216246811A>C | CA344864484 | USH2A | c.2583T>G (p.Cys861Trp)
| |
| 1 | g.216246811A>G | CA423431666 | USH2A | c.2583T>C (p.Cys861=)
| ClinVar |
| 1 | g.216246811A>T | CA344864485 | USH2A | c.2583T>A (p.Cys861Ter)
| |
| 1 | g.216246812C>A | CA344864486 | USH2A | c.2582G>T (p.Cys861Phe)
| |
| 1 | g.216246812C>G | CA344864487 | USH2A | c.2582G>C (p.Cys861Ser)
| |
| 1 | g.216246812C>T | CA344864488 | USH2A | c.2582G>A (p.Cys861Tyr)
| |
| 1 | g.216246813A>C | CA344864489 | USH2A | c.2581T>G (p.Cys861Gly)
| |
| 1 | g.216246813A>G | CA344864490 | USH2A | c.2581T>C (p.Cys861Arg)
| gnomAD v4 |
| 1 | g.216246813A>T | CA344864491 | USH2A | c.2581T>A (p.Cys861Ser)
| |
| 1 | g.216246814C>A | CA423431676 | USH2A | c.2580G>T (p.Leu860=)
| |
| 1 | g.216246814C= | CA1220619135 | USH2A | c.2580G= (p.Leu860=)
| |
| 1 | g.216246814C>G | CA423431677 | USH2A | c.2580G>C (p.Leu860=)
| |
| 1 | g.216246814C>T | CA423431679 | USH2A | c.2580G>A (p.Leu860=)
| ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246815A>C | CA344864492 | USH2A | c.2579T>G (p.Leu860Arg)
| |
| 1 | g.216246815A>G | CA344864493 | USH2A | c.2579T>C (p.Leu860Pro)
| |
| 1 | g.216246815A>T | CA344864494 | USH2A | c.2579T>A (p.Leu860Gln)
| |
| 1 | g.216246816G>A | CA423431680 | USH2A | c.2578C>T (p.Leu860=)
| |
| 1 | g.216246816G>C | CA344864495 | USH2A | c.2578C>G (p.Leu860Val)
| |
| 1 | g.216246816G>T | CA344864496 | USH2A | c.2578C>A (p.Leu860Met)
| |
| 1 | g.216246817C>A | CA423431685 | USH2A | c.2577G>T (p.Leu859=)
| |
| 1 | g.216246817C= | CA1220619136 | USH2A | c.2577G= (p.Leu859=)
| |
| 1 | g.216246817C>G | CA423431686 | USH2A | c.2577G>C (p.Leu859=)
| |
| 1 | g.216246817C>T | CA423431689 | USH2A | c.2577G>A (p.Leu859=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246818A>C | CA344864497 | USH2A | c.2576T>G (p.Leu859Arg)
| |
| 1 | g.216246818A>G | CA344864499 | USH2A | c.2576T>C (p.Leu859Pro)
| gnomAD v4 |
| 1 | g.216246818A>T | CA344864498 | USH2A | c.2576T>A (p.Leu859Gln)
| |
| 1 | g.216246819G>A | CA423431695 | USH2A | c.2575C>T (p.Leu859=)
| gnomAD v4 |
| 1 | g.216246819G>C | CA344864500 | USH2A | c.2575C>G (p.Leu859Val)
| |
| 1 | g.216246819G>T | CA344864501 | USH2A | c.2575C>A (p.Leu859Met)
| |
| 1 | g.216246820A>C | CA423431697 | USH2A | c.2574T>G (p.Ser858=)
| |
| 1 | g.216246820A>G | CA423431698 | USH2A | c.2574T>C (p.Ser858=)
| |
| 1 | g.216246820A>T | CA423431699 | USH2A | c.2574T>A (p.Ser858=)
| |
| 1 | g.216246821G>A | CA344864502 | USH2A | c.2573C>T (p.Ser858Phe)
| |
| 1 | g.216246821G>C | CA344864503 | USH2A | c.2573C>G (p.Ser858Cys)
| |
| 1 | g.216246821G= | CA1220619137 | USH2A | c.2573C= (p.Ser858=)
| |
| 1 | g.216246821G>T | CA344864504 | USH2A | c.2573C>A (p.Ser858Tyr)
| |
| 1 | g.216246822A>C | CA344864505 | USH2A | c.2572T>G (p.Ser858Ala)
| gnomAD v4 |
| 1 | g.216246822A>G | CA344864506 | USH2A | c.2572T>C (p.Ser858Pro)
| |
| 1 | g.216246822A>T | CA344864507 | USH2A | c.2572T>A (p.Ser858Thr)
| |
| 1 | g.216246823_216246826dup | CA1396208 | USH2A | c.2569_2572dup (p.Ser858TrpfsTer6)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246823G>A | CA423431705 | USH2A | c.2571C>T (p.Gly857=)
| gnomAD v4 |
| 1 | g.216246823G>C | CA423431709 | USH2A | c.2571C>G (p.Gly857=)
| |
| 1 | g.216246823G>T | CA423431712 | USH2A | c.2571C>A (p.Gly857=)
| |
| 1 | g.216246824C>A | CA344864508 | USH2A | c.2570G>T (p.Gly857Val)
| gnomAD v4 COSMIC |
| 1 | g.216246824C>G | CA344864509 | USH2A | c.2570G>C (p.Gly857Ala)
| |
| 1 | g.216246824C>T | CA344864510 | USH2A | c.2570G>A (p.Gly857Asp)
| |
| 1 | g.216246825C>A | CA344864511 | USH2A | c.2569G>T (p.Gly857Cys)
| COSMIC |
| 1 | g.216246825C>G | CA344864513 | USH2A | c.2569G>C (p.Gly857Arg)
| |
| 1 | g.216246825C>T | CA344864512 | USH2A | c.2569G>A (p.Gly857Ser)
| |
| 1 | g.216246825_216246826dup | CA2650512852 | USH2A | c.2568_2569dup (p.Gly857ValfsTer17)
| gnomAD v4 |
| 1 | g.216246826A= | CA1220619139 | USH2A | c.2568T= (p.Asn856=)
| |
| 1 | g.216246826A>C | CA344864514 | USH2A | c.2568T>G (p.Asn856Lys)
| |
| 1 | g.216246826A>G | CA423431720 | USH2A | c.2568T>C (p.Asn856=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246826A>T | CA344864515 | USH2A | c.2568T>A (p.Asn856Lys)
| |
| 1 | g.216246826_216246827delinsAT | CA1220619138 | USH2A | c.2567_2568delinsAT (p.Asn856=)
| |
| 1 | g.216246827T>A | CA344864516 | USH2A | c.2567A>T (p.Asn856Ile)
| |
| 1 | g.216246827T>C | CA344864517 | USH2A | c.2567A>G (p.Asn856Ser)
| |
| 1 | g.216246827T>G | CA344864518 | USH2A | c.2567A>C (p.Asn856Thr)
| gnomAD v4 |
| 1 | g.216246829del | CA1396209 | USH2A | c.2567del (p.Asn856MetfsTer17)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246828T>A | CA344864519 | USH2A | c.2566A>T (p.Asn856Tyr)
| |
| 1 | g.216246828T>C | CA344864520 | USH2A | c.2566A>G (p.Asn856Asp)
| |
| 1 | g.216246828T>G | CA344864521 | USH2A | c.2566A>C (p.Asn856His)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.216246828T= | CA1220619140 | USH2A | c.2566A= (p.Asn856=)
| |
| 1 | g.216246829T>A | CA423431726 | USH2A | c.2565A>T (p.Ile855=)
| |
| 1 | g.216246829T>C | CA344864522 | USH2A | c.2565A>G (p.Ile855Met)
| |
| 1 | g.216246829T>G | CA423431730 | USH2A | c.2565A>C (p.Ile855=)
| |
| 1 | g.216246830A= | CA1148434609 | USH2A | c.2564T= (p.Ile855=)
| |
| 1 | g.216246830A>C | CA344864524 | USH2A | c.2564T>G (p.Ile855Arg)
| |
| 1 | g.216246830A>G | CA1396210 | USH2A | c.2564T>C (p.Ile855Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246830A>T | CA344864523 | USH2A | c.2564T>A (p.Ile855Lys)
| |
| 1 | g.216246831T>A | CA344864525 | USH2A | c.2563A>T (p.Ile855Leu)
| |
| 1 | g.216246831T>C | CA344864526 | USH2A | c.2563A>G (p.Ile855Val)
| |
| 1 | g.216246831T>G | CA344864527 | USH2A | c.2563A>C (p.Ile855Leu)
| |
| 1 | g.216246831_216246834del | CA2650512853 | USH2A | c.2560_2563del (p.Thr854Ter)
| gnomAD v4 |
| 1 | g.216246832T>A | CA423431736 | USH2A | c.2562A>T (p.Thr854=)
| |
| 1 | g.216246832T>C | CA423431744 | USH2A | c.2562A>G (p.Thr854=)
| |
| 1 | g.216246832T>G | CA423431738 | USH2A | c.2562A>C (p.Thr854=)
| |
| 1 | g.216246833G>A | CA344864528 | USH2A | c.2561C>T (p.Thr854Ile)
| |
| 1 | g.216246833G>C | CA344864529 | USH2A | c.2561C>G (p.Thr854Arg)
| |
| 1 | g.216246833G= | CA1220619141 | USH2A | c.2561C= (p.Thr854=)
| |
| 1 | g.216246833G>T | CA344864530 | USH2A | c.2561C>A (p.Thr854Lys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246834T>A | CA344864531 | USH2A | c.2560A>T (p.Thr854Ser)
| |
| 1 | g.216246834T>C | CA344864532 | USH2A | c.2560A>G (p.Thr854Ala)
| |
| 1 | g.216246834T>G | CA344864533 | USH2A | c.2560A>C (p.Thr854Pro)
| |
| 1 | g.216246835C>A | CA423431754 | USH2A | c.2559G>T (p.Gly853=)
| |
| 1 | g.216246835C>G | CA423431755 | USH2A | c.2559G>C (p.Gly853=)
| |
| 1 | g.216246835C>T | CA423431756 | USH2A | c.2559G>A (p.Gly853=)
| |
| 1 | g.216246836C>A | CA344864534 | USH2A | c.2558G>T (p.Gly853Val)
| gnomAD v4 |
| 1 | g.216246836C>G | CA344864535 | USH2A | c.2558G>C (p.Gly853Ala)
| |
| 1 | g.216246836C>T | CA344864536 | USH2A | c.2558G>A (p.Gly853Glu)
| |
| 1 | g.216246837C>A | CA344864538 | USH2A | c.2557G>T (p.Gly853Trp)
| |
| 1 | g.216246837C>G | CA344864539 | USH2A | c.2557G>C (p.Gly853Arg)
| |
| 1 | g.216246837C>T | CA344864537 | USH2A | c.2557G>A (p.Gly853Arg)
| |
| 1 | g.216246838A= | CA1220619142 | USH2A | c.2556T= (p.Thr852=)
| |
| 1 | g.216246838A>C | CA423431762 | USH2A | c.2556T>G (p.Thr852=)
| dbSNP gnomAD v2 |
| 1 | g.216246838A>G | CA423431763 | USH2A | c.2556T>C (p.Thr852=)
| |
| 1 | g.216246838A>T | CA423431764 | USH2A | c.2556T>A (p.Thr852=)
| |
| 1 | g.216246839G>A | CA344864540 | USH2A | c.2555C>T (p.Thr852Ile)
| |
| 1 | g.216246839G>C | CA1396211 | USH2A | c.2555C>G (p.Thr852Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246839G= | CA1220619143 | USH2A | c.2555C= (p.Thr852=)
| |
| 1 | g.216246839G>T | CA344864541 | USH2A | c.2555C>A (p.Thr852Asn)
| |
| 1 | g.216246840T>A | CA344864542 | USH2A | c.2554A>T (p.Thr852Ser)
| |
| 1 | g.216246840T>C | CA344864543 | USH2A | c.2554A>G (p.Thr852Ala)
| |
| 1 | g.216246840T>G | CA344864544 | USH2A | c.2554A>C (p.Thr852Pro)
| |
| 1 | g.216246841C>A | CA1396212 | USH2A | c.2553G>T (p.Lys851Asn)
| dbSNP ExAC gnomAD v2 |
| 1 | g.216246841C= | CA1220619144 | USH2A | c.2553G= (p.Lys851=)
| |
| 1 | g.216246841C>G | CA344864545 | USH2A | c.2553G>C (p.Lys851Asn)
| |
| 1 | g.216246841C>T | CA423431765 | USH2A | c.2553G>A (p.Lys851=)
| gnomAD v4 |
| 1 | g.216246842T>A | CA344864546 | USH2A | c.2552A>T (p.Lys851Met)
| |
| 1 | g.216246842T>C | CA344864547 | USH2A | c.2552A>G (p.Lys851Arg)
| COSMIC COSMIC COSMIC |
| 1 | g.216246842T>G | CA344864548 | USH2A | c.2552A>C (p.Lys851Thr)
| COSMIC COSMIC COSMIC |
| 1 | g.216246843T>A | CA344864549 | USH2A | c.2551A>T (p.Lys851Ter)
| |
| 1 | g.216246843T>C | CA1396213 | USH2A | c.2551A>G (p.Lys851Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246843T>G | CA344864550 | USH2A | c.2551A>C (p.Lys851Gln)
| |
| 1 | g.216246843T= | CA1148289633 | USH2A | c.2551A= (p.Lys851=)
| |
| 1 | g.216246844A= | CA1220619145 | USH2A | c.2550T= (p.Asp850=)
| |
| 1 | g.216246844A>C | CA344864551 | USH2A | c.2550T>G (p.Asp850Glu)
| |
| 1 | g.216246844A>G | CA1396214 | USH2A | c.2550T>C (p.Asp850=)
| dbSNP ExAC gnomAD v2 |
| 1 | g.216246844A>T | CA344864552 | USH2A | c.2550T>A (p.Asp850Glu)
| |
| 1 | g.216246845T>A | CA344864553 | USH2A | c.2549A>T (p.Asp850Val)
| dbSNP |
| 1 | g.216246845T>C | CA344864555 | USH2A | c.2549A>G (p.Asp850Gly)
| |
| 1 | g.216246845T>G | CA344864554 | USH2A | c.2549A>C (p.Asp850Ala)
| |
| 1 | g.216246845T= | CA1220619146 | USH2A | c.2549A= (p.Asp850=)
| |
| 1 | g.216246846C>A | CA344864556 | USH2A | c.2548G>T (p.Asp850Tyr)
| |
| 1 | g.216246846C= | CA1220619147 | USH2A | c.2548G= (p.Asp850=)
| |
| 1 | g.216246846C>G | CA344864558 | USH2A | c.2548G>C (p.Asp850His)
| ClinVar dbSNP |
| 1 | g.216246846C>T | CA344864557 | USH2A | c.2548G>A (p.Asp850Asn)
| dbSNP |
| 1 | g.216246847A>C | CA344864559 | USH2A | c.2547T>G (p.Cys849Trp)
| |
| 1 | g.216246847A>G | CA423431774 | USH2A | c.2547T>C (p.Cys849=)
| |
| 1 | g.216246847A>T | CA344864560 | USH2A | c.2547T>A (p.Cys849Ter)
| |
| 1 | g.216246848C>A | CA344864561 | USH2A | c.2546G>T (p.Cys849Phe)
| |
| 1 | g.216246848C= | CA1141189304 | USH2A | c.2546G= (p.Cys849=)
| |
| 1 | g.216246848C>G | CA344864562 | USH2A | c.2546G>C (p.Cys849Ser)
| gnomAD v4 |
| 1 | g.216246848C>T | CA143442 | USH2A | c.2546G>A (p.Cys849Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246849A>C | CA344864563 | USH2A | c.2545T>G (p.Cys849Gly)
| |
| 1 | g.216246849A>G | CA344864564 | USH2A | c.2545T>C (p.Cys849Arg)
| |
| 1 | g.216246849A>T | CA344864565 | USH2A | c.2545T>A (p.Cys849Ser)
| |
| 1 | g.216246850G>A | CA423431780 | USH2A | c.2544C>T (p.Asn848=)
| |
| 1 | g.216246850G>C | CA37501267 | USH2A | c.2544C>G (p.Asn848Lys)
| dbSNP |
| 1 | g.216246850G= | CA1220619148 | USH2A | c.2544C= (p.Asn848=)
| |
| 1 | g.216246850G>T | CA344864566 | USH2A | c.2544C>A (p.Asn848Lys)
| |
| 1 | g.216246851T>A | CA344864567 | USH2A | c.2543A>T (p.Asn848Ile)
| |
| 1 | g.216246851T>C | CA344864568 | USH2A | c.2543A>G (p.Asn848Ser)
| |
| 1 | g.216246851T>G | CA344864569 | USH2A | c.2543A>C (p.Asn848Thr)
| |
| 1 | g.216246852T>A | CA344864570 | USH2A | c.2542A>T (p.Asn848Tyr)
| |
| 1 | g.216246852T>C | CA344864571 | USH2A | c.2542A>G (p.Asn848Asp)
| gnomAD v4 |
| 1 | g.216246852T>G | CA344864572 | USH2A | c.2542A>C (p.Asn848His)
| |
| 1 | g.216246853G>A | CA423431790 | USH2A | c.2541C>T (p.Cys847=)
| |
| 1 | g.216246853G>C | CA344864573 | USH2A | c.2541C>G (p.Cys847Trp)
| |
| 1 | g.216246853G= | CA1148224994 | USH2A | c.2541C= (p.Cys847=)
| |
| 1 | g.216246853G>T | CA273290 | USH2A | c.2541C>A (p.Cys847Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246854C>A | CA344864574 | USH2A | c.2540G>T (p.Cys847Phe)
| |
| 1 | g.216246854C>G | CA344864576 | USH2A | c.2540G>C (p.Cys847Ser)
| |
| 1 | g.216246854C>T | CA344864575 | USH2A | c.2540G>A (p.Cys847Tyr)
| |
| 1 | g.216246855A= | CA1220619149 | USH2A | c.2539T= (p.Cys847=)
| |
| 1 | g.216246855A>C | CA344864577 | USH2A | c.2539T>G (p.Cys847Gly)
| |
| 1 | g.216246855A>G | CA37501275 | USH2A | c.2539T>C (p.Cys847Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246855A>T | CA344864578 | USH2A | c.2539T>A (p.Cys847Ser)
| |
| 1 | g.216246856A>C | CA423431799 | USH2A | c.2538T>G (p.Pro846=)
| |
| 1 | g.216246856A>G | CA423431801 | USH2A | c.2538T>C (p.Pro846=)
| |
| 1 | g.216246856A>T | CA423431802 | USH2A | c.2538T>A (p.Pro846=)
| |
| 1 | g.216246857G>A | CA344864579 | USH2A | c.2537C>T (p.Pro846Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246857G>C | CA344864580 | USH2A | c.2537C>G (p.Pro846Arg)
| |
| 1 | g.216246857G= | CA1220619150 | USH2A | c.2537C= (p.Pro846=)
| |
| 1 | g.216246857G>T | CA344864581 | USH2A | c.2537C>A (p.Pro846His)
| |
| 1 | g.216246858G>A | CA1396215 | USH2A | c.2536C>T (p.Pro846Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246858G>C | CA344864582 | USH2A | c.2536C>G (p.Pro846Ala)
| |
| 1 | g.216246858G= | CA1149061104 | USH2A | c.2536C= (p.Pro846=)
| |
| 1 | g.216246858G>T | CA344864583 | USH2A | c.2536C>A (p.Pro846Thr)
| |
| 1 | g.216246859C>A | CA423431804 | USH2A | c.2535G>T (p.Leu845=)
| |
| 1 | g.216246859C>G | CA423431805 | USH2A | c.2535G>C (p.Leu845=)
| |
| 1 | g.216246859C>T | CA423431806 | USH2A | c.2535G>A (p.Leu845=)
| ClinVar dbSNP |
| 1 | g.216246859_216246860delinsCA | CA1220619151 | USH2A | c.2534_2535delinsTG (p.Leu845=)
| |
| 1 | g.216246863_216246866del | CA2586964549 | USH2A | c.2532_2535del (p.Pro846AlafsTer9)
| ClinVar |
| 1 | g.216246860del | CA915942024 | USH2A | c.2534del (p.Leu845ArgfsTer11)
| ClinVar dbSNP |
| 1 | g.216246860A>C | CA344864586 | USH2A | c.2534T>G (p.Leu845Arg)
| |
| 1 | g.216246860A>G | CA344864585 | USH2A | c.2534T>C (p.Leu845Pro)
| |
| 1 | g.216246860A>T | CA344864584 | USH2A | c.2534T>A (p.Leu845Gln)
| |
| 1 | g.216246861G>A | CA423431810 | USH2A | c.2533C>T (p.Leu845=)
| gnomAD v4 |
| 1 | g.216246861G>C | CA344864587 | USH2A | c.2533C>G (p.Leu845Val)
| |
| 1 | g.216246861G>T | CA344864588 | USH2A | c.2533C>A (p.Leu845Met)
| |
| 1 | g.216246862A>C | CA344864589 | USH2A | c.2532T>G (p.Cys844Trp)
| |
| 1 | g.216246862A>G | CA423431813 | USH2A | c.2532T>C (p.Cys844=)
| ClinVar dbSNP |
| 1 | g.216246862A>T | CA344864590 | USH2A | c.2532T>A (p.Cys844Ter)
| |
| 1 | g.216246863_216246864del | CA2573132759 | USH2A | c.2531_2532del (p.Cys844SerfsTer6)
| ClinVar dbSNP |
| 1 | g.216246863C>A | CA344864591 | USH2A | c.2531G>T (p.Cys844Phe)
| |
| 1 | g.216246863C= | CA1147069712 | USH2A | c.2531G= (p.Cys844=)
| |
| 1 | g.216246863C>G | CA1396216 | USH2A | c.2531G>C (p.Cys844Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.216246863C>T | CA37501309 | USH2A | c.2531G>A (p.Cys844Tyr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246864A= | CA1220619152 | USH2A | c.2530T= (p.Cys844=)
| |
| 1 | g.216246864A>C | CA344864592 | USH2A | c.2530T>G (p.Cys844Gly)
| |
| 1 | g.216246864A>G | CA344864593 | USH2A | c.2530T>C (p.Cys844Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246864A>T | CA344864594 | USH2A | c.2530T>A (p.Cys844Ser)
| COSMIC |
