| 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 |
| 1 | g.216246865G>A | CA423431817 | USH2A | c.2529C>T (p.Leu843=)
| COSMIC COSMIC COSMIC |
| 1 | g.216246865G>C | CA423431818 | USH2A | c.2529C>G (p.Leu843=)
| |
| 1 | g.216246865G>T | CA423431819 | USH2A | c.2529C>A (p.Leu843=)
| COSMIC COSMIC COSMIC |
| 1 | g.216246866A= | CA1220619153 | USH2A | c.2528T= (p.Leu843=)
| |
| 1 | g.216246866A>C | CA1396217 | USH2A | c.2528T>G (p.Leu843Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246866A>G | CA344864595 | USH2A | c.2528T>C (p.Leu843Pro)
| gnomAD v4 |
| 1 | g.216246866A>T | CA344864596 | USH2A | c.2528T>A (p.Leu843His)
| |
| 1 | g.216246867G>A | CA344864599 | USH2A | c.2527C>T (p.Leu843Phe)
| |
| 1 | g.216246867G>C | CA344864597 | USH2A | c.2527C>G (p.Leu843Val)
| |
| 1 | g.216246867G>T | CA344864598 | USH2A | c.2527C>A (p.Leu843Ile)
| |
| 1 | g.216246868G>A | CA423431822 | USH2A | c.2526C>T (p.Phe842=)
| COSMIC COSMIC COSMIC |
| 1 | g.216246868G>C | CA344864600 | USH2A | c.2526C>G (p.Phe842Leu)
| |
| 1 | g.216246868G= | CA1220619154 | USH2A | c.2526C= (p.Phe842=)
| |
| 1 | g.216246868G>T | CA344864601 | USH2A | c.2526C>A (p.Phe842Leu)
| |
| 1 | g.216246869A>C | CA344864602 | USH2A | c.2525T>G (p.Phe842Cys)
| |
| 1 | g.216246869A>G | CA344864603 | USH2A | c.2525T>C (p.Phe842Ser)
| |
| 1 | g.216246869A>T | CA344864604 | USH2A | c.2525T>A (p.Phe842Tyr)
| gnomAD v4 |
| 1 | g.216246871dup | CA731431550 | USH2A | c.2525dup (p.Leu843ProfsTer8)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246871del | CA2580062128 | USH2A | c.2525del (p.Phe842SerfsTer14)
| ClinVar |
| 1 | g.216246870A>C | CA344864605 | USH2A | c.2524T>G (p.Phe842Val)
| |
| 1 | g.216246870A>G | CA344864606 | USH2A | c.2524T>C (p.Phe842Leu)
| |
| 1 | g.216246870A>T | CA344864607 | USH2A | c.2524T>A (p.Phe842Ile)
| |
| 1 | g.216246871A= | CA1220619155 | USH2A | c.2523T= (p.Ser841=)
| |
| 1 | g.216246871A>C | CA423431824 | USH2A | c.2523T>G (p.Ser841=)
| |
| 1 | g.216246871A>G | CA1396218 | USH2A | c.2523T>C (p.Ser841=)
| dbSNP ExAC gnomAD v2 |
| 1 | g.216246871A>T | CA423431826 | USH2A | c.2523T>A (p.Ser841=)
| |
| 1 | g.216246872G>A | CA344864608 | USH2A | c.2522C>T (p.Ser841Phe)
| |
| 1 | g.216246872G>C | CA344864609 | USH2A | c.2522C>G (p.Ser841Cys)
| |
| 1 | g.216246872G= | CA1141189308 | USH2A | c.2522C= (p.Ser841=)
| |
| 1 | g.216246872G>T | CA248655 | USH2A | c.2522C>A (p.Ser841Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246873A>C | CA344864612 | USH2A | c.2521T>G (p.Ser841Ala)
| |
| 1 | g.216246873A>G | CA344864611 | USH2A | c.2521T>C (p.Ser841Pro)
| |
| 1 | g.216246873A>T | CA344864610 | USH2A | c.2521T>A (p.Ser841Thr)
| |
| 1 | g.216246874A= | CA1220619156 | USH2A | c.2520T= (p.Asn840=)
| |
| 1 | g.216246874A>C | CA344864614 | USH2A | c.2520T>G (p.Asn840Lys)
| |
| 1 | g.216246874A>G | CA423431827 | USH2A | c.2520T>C (p.Asn840=)
| |
| 1 | g.216246874A>T | CA344864613 | USH2A | c.2520T>A (p.Asn840Lys)
| dbSNP |
| 1 | g.216246875T>A | CA344864617 | USH2A | c.2519A>T (p.Asn840Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246875T>C | CA344864615 | USH2A | c.2519A>G (p.Asn840Ser)
| |
| 1 | g.216246875T>G | CA344864616 | USH2A | c.2519A>C (p.Asn840Thr)
| |
| 1 | g.216246875T= | CA1220619157 | USH2A | c.2519A= (p.Asn840=)
| |
| 1 | g.216246876T>A | CA344864618 | USH2A | c.2518A>T (p.Asn840Tyr)
| |
| 1 | g.216246876T>C | CA1396219 | USH2A | c.2518A>G (p.Asn840Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246876T>G | CA344864619 | USH2A | c.2518A>C (p.Asn840His)
| |
| 1 | g.216246876T= | CA1220619158 | USH2A | c.2518A= (p.Asn840=)
| |
| 1 | g.216246877A>C | CA344864620 | USH2A | c.2517T>G (p.Asn839Lys)
| |
| 1 | g.216246877A>G | CA423431833 | USH2A | c.2517T>C (p.Asn839=)
| gnomAD v4 |
| 1 | g.216246877A>T | CA344864621 | USH2A | c.2517T>A (p.Asn839Lys)
| |
| 1 | g.216246878T>A | CA344864622 | USH2A | c.2516A>T (p.Asn839Ile)
| |
| 1 | g.216246878T>C | CA344864623 | USH2A | c.2516A>G (p.Asn839Ser)
| gnomAD v4 |
| 1 | g.216246878T>G | CA344864624 | USH2A | c.2516A>C (p.Asn839Thr)
| |
| 1 | g.216246879T>A | CA344864625 | USH2A | c.2515A>T (p.Asn839Tyr)
| |
| 1 | g.216246879T>C | CA344864626 | USH2A | c.2515A>G (p.Asn839Asp)
| |
| 1 | g.216246879T>G | CA344864627 | USH2A | c.2515A>C (p.Asn839His)
| |
| 1 | g.216246880T>A | CA344864628 | USH2A | c.2514A>T (p.Gln838His)
| |
| 1 | g.216246880T>C | CA37501314 | USH2A | c.2514A>G (p.Gln838=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216246880T>G | CA344864629 | USH2A | c.2514A>C (p.Gln838His)
| |
| 1 | g.216246880T= | CA1220619159 | USH2A | c.2514A= (p.Gln838=)
| |
| 1 | g.216246881T>A | CA344864630 | USH2A | c.2513A>T (p.Gln838Leu)
| |
| 1 | g.216246881T>C | CA344864631 | USH2A | c.2513A>G (p.Gln838Arg)
| |
| 1 | g.216246881T>G | CA344864632 | USH2A | c.2513A>C (p.Gln838Pro)
| |
| 1 | g.216246882G>A | CA344864633 | USH2A | c.2512C>T (p.Gln838Ter)
| gnomAD v4 |
| 1 | g.216246882G>C | CA344864634 | USH2A | c.2512C>G (p.Gln838Glu)
| |
| 1 | g.216246882G= | CA1220619160 | USH2A | c.2512C= (p.Gln838=)
| |
| 1 | g.216246882G>T | CA344864635 | USH2A | c.2512C>A (p.Gln838Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246883C>A | CA423431841 | USH2A | c.2511G>T (p.Arg837=)
| |
| 1 | g.216246883C= | CA1220619161 | USH2A | c.2511G= (p.Arg837=)
| |
| 1 | g.216246883C>G | CA423431843 | USH2A | c.2511G>C (p.Arg837=)
| |
| 1 | g.216246883C>T | CA423431844 | USH2A | c.2511G>A (p.Arg837=)
| dbSNP |
| 1 | g.216246884C>A | CA344864636 | USH2A | c.2510G>T (p.Arg837Leu)
| |
| 1 | g.216246884C= | CA1142250611 | USH2A | c.2510G= (p.Arg837=)
| |
| 1 | g.216246884C>G | CA344864637 | USH2A | c.2510G>C (p.Arg837Pro)
| |
| 1 | g.216246884C>T | CA179584 | USH2A | c.2510G>A (p.Arg837Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246885G>A | CA1396220 | USH2A | c.2509C>T (p.Arg837Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.216246885G>C | CA344864638 | USH2A | c.2509C>G (p.Arg837Gly)
| gnomAD v4 |
| 1 | g.216246885G= | CA1141880944 | USH2A | c.2509C= (p.Arg837=)
| |
| 1 | g.216246885G>T | CA423431848 | USH2A | c.2509C>A (p.Arg837=)
| ClinVar gnomAD v4 |
| 1 | g.216246886T>A | CA423431849 | USH2A | c.2508A>T (p.Leu836=)
| |
| 1 | g.216246886T>C | CA423431850 | USH2A | c.2508A>G (p.Leu836=)
| ClinVar |
| 1 | g.216246886T>G | CA423431851 | USH2A | c.2508A>C (p.Leu836=)
| |
| 1 | g.216246887A>C | CA344864640 | USH2A | c.2507T>G (p.Leu836Arg)
| |
| 1 | g.216246887A>G | CA344864641 | USH2A | c.2507T>C (p.Leu836Pro)
| |
| 1 | g.216246887A>T | CA344864639 | USH2A | c.2507T>A (p.Leu836Gln)
| |
| 1 | g.216246888G>A | CA423431855 | USH2A | c.2506C>T (p.Leu836=)
| ClinVar gnomAD v4 |
| 1 | g.216246888G>C | CA1396221 | USH2A | c.2506C>G (p.Leu836Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246888G= | CA1220619162 | USH2A | c.2506C= (p.Leu836=)
| |
| 1 | g.216246888G>T | CA344864642 | USH2A | c.2506C>A (p.Leu836Ile)
| |
| 1 | g.216246889G>A | CA423431856 | USH2A | c.2505C>T (p.Tyr835=)
| gnomAD v4 |
| 1 | g.216246889G>C | CA344864643 | USH2A | c.2505C>G (p.Tyr835Ter)
| |
| 1 | g.216246889G>T | CA344864644 | USH2A | c.2505C>A (p.Tyr835Ter)
| |
| 1 | g.216246890T>A | CA344864645 | USH2A | c.2504A>T (p.Tyr835Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246890T>C | CA344864646 | USH2A | c.2504A>G (p.Tyr835Cys)
| |
| 1 | g.216246890T>G | CA344864647 | USH2A | c.2504A>C (p.Tyr835Ser)
| |
| 1 | g.216246890T= | CA1220619163 | USH2A | c.2504A= (p.Tyr835=)
| |
| 1 | g.216246891A>C | CA344864648 | USH2A | c.2503T>G (p.Tyr835Asp)
| |
| 1 | g.216246891A>G | CA344864649 | USH2A | c.2503T>C (p.Tyr835His)
| |
| 1 | g.216246891A>T | CA344864650 | USH2A | c.2503T>A (p.Tyr835Asn)
| |
| 1 | g.216246892G>A | CA423431862 | USH2A | c.2502C>T (p.Phe834=)
| |
| 1 | g.216246892G>C | CA344864651 | USH2A | c.2502C>G (p.Phe834Leu)
| |
| 1 | g.216246892G>T | CA344864652 | USH2A | c.2502C>A (p.Phe834Leu)
| |
| 1 | g.216246893A>C | CA344864654 | USH2A | c.2501T>G (p.Phe834Cys)
| |
| 1 | g.216246893A>G | CA344864655 | USH2A | c.2501T>C (p.Phe834Ser)
| |
| 1 | g.216246893A>T | CA344864653 | USH2A | c.2501T>A (p.Phe834Tyr)
| |
| 1 | g.216246894A>C | CA344864656 | USH2A | c.2500T>G (p.Phe834Val)
| dbSNP |
| 1 | g.216246894A>G | CA344864657 | USH2A | c.2500T>C (p.Phe834Leu)
| |
| 1 | g.216246894A>T | CA344864658 | USH2A | c.2500T>A (p.Phe834Ile)
| |
| 1 | g.216246895G>A | CA423431865 | USH2A | c.2499C>T (p.Asn833=)
| ClinVar |
| 1 | g.216246895G>C | CA344864659 | USH2A | c.2499C>G (p.Asn833Lys)
| |
| 1 | g.216246895G>T | CA344864660 | USH2A | c.2499C>A (p.Asn833Lys)
| COSMIC COSMIC COSMIC |
| 1 | g.216246896T>A | CA344864663 | USH2A | c.2498A>T (p.Asn833Ile)
| |
| 1 | g.216246896T>C | CA344864662 | USH2A | c.2498A>G (p.Asn833Ser)
| |
| 1 | g.216246896T>G | CA344864661 | USH2A | c.2498A>C (p.Asn833Thr)
| |
| 1 | g.216246898del | CA2739275653 | USH2A | c.2498del (p.Asn833ThrfsTer23)
| ClinVar |
| 1 | g.216246897T>A | CA344864664 | USH2A | c.2497A>T (p.Asn833Tyr)
| |
| 1 | g.216246897T>C | CA344864665 | USH2A | c.2497A>G (p.Asn833Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246897T>G | CA344864666 | USH2A | c.2497A>C (p.Asn833His)
| |
| 1 | g.216246897T= | CA1220619164 | USH2A | c.2497A= (p.Asn833=)
| |
| 1 | g.216246898T>A | CA423431868 | USH2A | c.2496A>T (p.Gly832=)
| |
| 1 | g.216246898T>C | CA37501320 | USH2A | c.2496A>G (p.Gly832=)
| dbSNP |
| 1 | g.216246898T>G | CA423431869 | USH2A | c.2496A>C (p.Gly832=)
| |
| 1 | g.216246898T= | CA1141812459 | USH2A | c.2496A= (p.Gly832=)
| |
| 1 | g.216246899C>A | CA344864667 | USH2A | c.2495G>T (p.Gly832Val)
| |
| 1 | g.216246899C= | CA1220619165 | USH2A | c.2495G= (p.Gly832=)
| |
| 1 | g.216246899C>G | CA344864668 | USH2A | c.2495G>C (p.Gly832Ala)
| |
| 1 | g.216246899C>T | CA37501324 | USH2A | c.2495G>A (p.Gly832Glu)
| dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246900C>A | CA344864670 | USH2A | c.2494G>T (p.Gly832Ter)
| |
| 1 | g.216246900C>G | CA344864671 | USH2A | c.2494G>C (p.Gly832Arg)
| |
| 1 | g.216246900C>T | CA344864669 | USH2A | c.2494G>A (p.Gly832Arg)
| gnomAD v4 |
| 1 | g.216246901C>A | CA344864672 | USH2A | c.2493G>T (p.Glu831Asp)
| |
| 1 | g.216246901C>G | CA344864673 | USH2A | c.2493G>C (p.Glu831Asp)
| |
| 1 | g.216246901C>T | CA423431875 | USH2A | c.2493G>A (p.Glu831=)
| ClinVar gnomAD v4 |
| 1 | g.216246902T>A | CA1396222 | USH2A | c.2492A>T (p.Glu831Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246902T>C | CA344864674 | USH2A | c.2492A>G (p.Glu831Gly)
| |
| 1 | g.216246902T>G | CA344864675 | USH2A | c.2492A>C (p.Glu831Ala)
| |
| 1 | g.216246902T= | CA1220619166 | USH2A | c.2492A= (p.Glu831=)
| |
| 1 | g.216246903C>A | CA344864676 | USH2A | c.2491G>T (p.Glu831Ter)
| ClinVar COSMIC COSMIC COSMIC |
| 1 | g.216246903C= | CA1220619167 | USH2A | c.2491G= (p.Glu831=)
| |
| 1 | g.216246903C>G | CA344864677 | USH2A | c.2491G>C (p.Glu831Gln)
| dbSNP gnomAD v4 |
| 1 | g.216246903C>T | CA344864678 | USH2A | c.2491G>A (p.Glu831Lys)
| |
| 1 | g.216246904C>A | CA344864679 | USH2A | c.2490G>T (p.Leu830Phe)
| |
| 1 | g.216246904C= | CA1220619168 | USH2A | c.2490G= (p.Leu830=)
| |
| 1 | g.216246904C>G | CA344864680 | USH2A | c.2490G>C (p.Leu830Phe)
| |
| 1 | g.216246904C>T | CA423431878 | USH2A | c.2490G>A (p.Leu830=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246905A>C | CA344864681 | USH2A | c.2489T>G (p.Leu830Trp)
| gnomAD v4 |
| 1 | g.216246905A>G | CA344864682 | USH2A | c.2489T>C (p.Leu830Ser)
| |
| 1 | g.216246905A>T | CA344864683 | USH2A | c.2489T>A (p.Leu830Ter)
| |
| 1 | g.216246906A>C | CA344864684 | USH2A | c.2488T>G (p.Leu830Val)
| |
| 1 | g.216246906A>G | CA423431883 | USH2A | c.2488T>C (p.Leu830=)
| |
| 1 | g.216246906A>T | CA344864685 | USH2A | c.2488T>A (p.Leu830Met)
| |
| 1 | g.216246907A>C | CA344864687 | USH2A | c.2487T>G (p.Cys829Trp)
| |
| 1 | g.216246907A>G | CA423431886 | USH2A | c.2487T>C (p.Cys829=)
| |
| 1 | g.216246907A>T | CA344864686 | USH2A | c.2487T>A (p.Cys829Ter)
| |
| 1 | g.216246909_216246910insCACCCAACACA | CA2747735792 | USH2A | c.2487_2488insGTTGGGTGTGT (p.Leu830ValfsTer30)
| |
| 1 | g.216246908C>A | CA344864688 | USH2A | c.2486G>T (p.Cys829Phe)
| |
| 1 | g.216246908C>G | CA344864689 | USH2A | c.2486G>C (p.Cys829Ser)
| |
| 1 | g.216246908C>T | CA344864690 | USH2A | c.2486G>A (p.Cys829Tyr)
| gnomAD v4 |
| 1 | g.216246909A>C | CA344864691 | USH2A | c.2485T>G (p.Cys829Gly)
| |
| 1 | g.216246909A>G | CA344864692 | USH2A | c.2485T>C (p.Cys829Arg)
| |
| 1 | g.216246909A>T | CA344864693 | USH2A | c.2485T>A (p.Cys829Ser)
| |
| 1 | g.216246910T>A | CA344864694 | USH2A | c.2484A>T (p.Lys828Asn)
| |
| 1 | g.216246910T>C | CA423431890 | USH2A | c.2484A>G (p.Lys828=)
| |
| 1 | g.216246910T>G | CA344864695 | USH2A | c.2484A>C (p.Lys828Asn)
| |
| 1 | g.216246912del | CA2586964553 | USH2A | c.2484del (p.Lys828AsnfsTer28)
| |
| 1 | g.216246911T>A | CA344864696 | USH2A | c.2483A>T (p.Lys828Ile)
| |
| 1 | g.216246911T>C | CA344864697 | USH2A | c.2483A>G (p.Lys828Arg)
| |
| 1 | g.216246911T>G | CA344864698 | USH2A | c.2483A>C (p.Lys828Thr)
| |
| 1 | g.216246912T>A | CA344864699 | USH2A | c.2482A>T (p.Lys828Ter)
| |
| 1 | g.216246912T>C | CA344864700 | USH2A | c.2482A>G (p.Lys828Glu)
| |
| 1 | g.216246912T>G | CA344864701 | USH2A | c.2482A>C (p.Lys828Gln)
| |
| 1 | g.216246913A>C | CA344864702 | USH2A | c.2481T>G (p.Asn827Lys)
| |
| 1 | g.216246913A>G | CA423431898 | USH2A | c.2481T>C (p.Asn827=)
| ClinVar |
| 1 | g.216246913A>T | CA344864703 | USH2A | c.2481T>A (p.Asn827Lys)
| |
| 1 | g.216246914T>A | CA344864704 | USH2A | c.2480A>T (p.Asn827Ile)
| |
| 1 | g.216246914T>C | CA344864705 | USH2A | c.2480A>G (p.Asn827Ser)
| gnomAD v4 |
| 1 | g.216246914T>G | CA344864706 | USH2A | c.2480A>C (p.Asn827Thr)
| |
| 1 | g.216246915T>A | CA344864707 | USH2A | c.2479A>T (p.Asn827Tyr)
| |
| 1 | g.216246915T>C | CA344864708 | USH2A | c.2479A>G (p.Asn827Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246915T>G | CA10576387 | USH2A | c.2479A>C (p.Asn827His)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246915T= | CA1220619169 | USH2A | c.2479A= (p.Asn827=)
| |
| 1 | g.216246916G>A | CA423431900 | USH2A | c.2478C>T (p.Cys826=)
| |
| 1 | g.216246916G>C | CA344864709 | USH2A | c.2478C>G (p.Cys826Trp)
| |
| 1 | g.216246916G= | CA1220619170 | USH2A | c.2478C= (p.Cys826=)
| |
| 1 | g.216246916G>T | CA344864710 | USH2A | c.2478C>A (p.Cys826Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246917C>A | CA344864711 | USH2A | c.2477G>T (p.Cys826Phe)
| |
| 1 | g.216246917C>G | CA344864712 | USH2A | c.2477G>C (p.Cys826Ser)
| |
| 1 | g.216246917C>T | CA344864713 | USH2A | c.2477G>A (p.Cys826Tyr)
| gnomAD v4 |
| 1 | g.216246918A>C | CA344864714 | USH2A | c.2476T>G (p.Cys826Gly)
| |
| 1 | g.216246918A>G | CA344864715 | USH2A | c.2476T>C (p.Cys826Arg)
| dbSNP COSMIC |
| 1 | g.216246918A>T | CA344864716 | USH2A | c.2476T>A (p.Cys826Ser)
| |
| 1 | g.216246919C>A | CA344864718 | USH2A | c.2475G>T (p.Gln825His)
| |
| 1 | g.216246919C>G | CA344864717 | USH2A | c.2475G>C (p.Gln825His)
| |
| 1 | g.216246919C>T | CA423431902 | USH2A | c.2475G>A (p.Gln825=)
| ClinVar dbSNP |
| 1 | g.216246920T>A | CA344864719 | USH2A | c.2474A>T (p.Gln825Leu)
| |
| 1 | g.216246920T>C | CA344864720 | USH2A | c.2474A>G (p.Gln825Arg)
| gnomAD v4 |
| 1 | g.216246920T>G | CA344864721 | USH2A | c.2474A>C (p.Gln825Pro)
| |
| 1 | g.216246921G>A | CA344864722 | USH2A | c.2473C>T (p.Gln825Ter)
| |
| 1 | g.216246921G>C | CA344864723 | USH2A | c.2473C>G (p.Gln825Glu)
| dbSNP gnomAD v4 |
| 1 | g.216246921G= | CA1220619171 | USH2A | c.2473C= (p.Gln825=)
| |
| 1 | g.216246921G>T | CA344864724 | USH2A | c.2473C>A (p.Gln825Lys)
| |
| 1 | g.216246922T>A | CA1396223 | USH2A | c.2472A>T (p.Arg824Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246922T>C | CA423431909 | USH2A | c.2472A>G (p.Arg824=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246922T>G | CA344864725 | USH2A | c.2472A>C (p.Arg824Ser)
| |
| 1 | g.216246922T= | CA1220619172 | USH2A | c.2472A= (p.Arg824=)
| |
| 1 | g.216246923C>A | CA344864726 | USH2A | c.2471G>T (p.Arg824Ile)
| |
| 1 | g.216246923C= | CA1220619173 | USH2A | c.2471G= (p.Arg824=)
| |
| 1 | g.216246923C>G | CA344864727 | USH2A | c.2471G>C (p.Arg824Thr)
| |
| 1 | g.216246923C>T | CA1396224 | USH2A | c.2471G>A (p.Arg824Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246924T>A | CA344864728 | USH2A | c.2470A>T (p.Arg824Ter)
| |
| 1 | g.216246924T>C | CA344864729 | USH2A | c.2470A>G (p.Arg824Gly)
| |
| 1 | g.216246924T>G | CA423431913 | USH2A | c.2470A>C (p.Arg824=)
| |
| 1 | g.216246925C>A | CA423431914 | USH2A | c.2469G>T (p.Gly823=)
| |
| 1 | g.216246925C>G | CA423431916 | USH2A | c.2469G>C (p.Gly823=)
| |
| 1 | g.216246925C>T | CA423431917 | USH2A | c.2469G>A (p.Gly823=)
| gnomAD v4 |
| 1 | g.216246925_216246926insTTATA | CA2580062130 | USH2A | c.2468_2469insTATAA (p.Arg824IlefsTer?)
| ClinVar |
| 1 | g.216246926C>A | CA344864730 | USH2A | c.2468G>T (p.Gly823Val)
| |
| 1 | g.216246926C= | CA1220619174 | USH2A | c.2468G= (p.Gly823=)
| |
| 1 | g.216246926C>G | CA344864732 | USH2A | c.2468G>C (p.Gly823Ala)
| |
| 1 | g.216246926C>T | CA344864731 | USH2A | c.2468G>A (p.Gly823Glu)
| dbSNP gnomAD v4 |
| 1 | g.216246927C>A | CA344864733 | USH2A | c.2467G>T (p.Gly823Trp)
| |
| 1 | g.216246927C>G | CA344864734 | USH2A | c.2467G>C (p.Gly823Arg)
| |
| 1 | g.216246927C>T | CA344864735 | USH2A | c.2467G>A (p.Gly823Arg)
| |
| 1 | g.216246928T>A | CA344864736 | USH2A | c.2466A>T (p.Glu822Asp)
| |
| 1 | g.216246928T>C | CA423431920 | USH2A | c.2466A>G (p.Glu822=)
| |
| 1 | g.216246928T>G | CA344864737 | USH2A | c.2466A>C (p.Glu822Asp)
| |
| 1 | g.216246929T>A | CA344864740 | USH2A | c.2465A>T (p.Glu822Val)
| |
| 1 | g.216246929T>C | CA344864739 | USH2A | c.2465A>G (p.Glu822Gly)
| |
| 1 | g.216246929T>G | CA344864738 | USH2A | c.2465A>C (p.Glu822Ala)
| |
| 1 | g.216246930C>A | CA344864741 | USH2A | c.2464G>T (p.Glu822Ter)
| |
| 1 | g.216246930C>G | CA344864742 | USH2A | c.2464G>C (p.Glu822Gln)
| |
| 1 | g.216246930C>T | CA344864743 | USH2A | c.2464G>A (p.Glu822Lys)
| |
| 1 | g.216246931A= | CA1220619175 | USH2A | c.2463T= (p.Val821=)
| |
| 1 | g.216246931A>C | CA423431928 | USH2A | c.2463T>G (p.Val821=)
| |
| 1 | g.216246931A>G | CA423431927 | USH2A | c.2463T>C (p.Val821=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216246931A>T | CA423431926 | USH2A | c.2463T>A (p.Val821=)
| |
| 1 | g.216246932A= | CA1220619176 | USH2A | c.2462T= (p.Val821=)
| |
| 1 | g.216246932A>C | CA344864744 | USH2A | c.2462T>G (p.Val821Gly)
| |
| 1 | g.216246932A>G | CA1396225 | USH2A | c.2462T>C (p.Val821Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246932A>T | CA344864745 | USH2A | c.2462T>A (p.Val821Asp)
| gnomAD v4 |
| 1 | g.216246933C>A | CA344864748 | USH2A | c.2461G>T (p.Val821Phe)
| |
| 1 | g.216246933C>G | CA344864746 | USH2A | c.2461G>C (p.Val821Leu)
| |
| 1 | g.216246933C>T | CA344864747 | USH2A | c.2461G>A (p.Val821Ile)
| gnomAD v4 COSMIC |
| 1 | g.216246934A= | CA1220619177 | USH2A | c.2460T= (p.Asn820=)
| |
| 1 | g.216246934A>C | CA344864749 | USH2A | c.2460T>G (p.Asn820Lys)
| |
| 1 | g.216246934A>G | CA1396226 | USH2A | c.2460T>C (p.Asn820=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246934A>T | CA344864750 | USH2A | c.2460T>A (p.Asn820Lys)
| gnomAD v4 |
| 1 | g.216246935T>A | CA344864751 | USH2A | c.2459A>T (p.Asn820Ile)
| |
| 1 | g.216246935T>C | CA1396227 | USH2A | c.2459A>G (p.Asn820Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246935T>G | CA344864752 | USH2A | c.2459A>C (p.Asn820Thr)
| |
| 1 | g.216246935T= | CA1140520130 | USH2A | c.2459A= (p.Asn820=)
| |
| 1 | g.216246936T>A | CA344864753 | USH2A | c.2458A>T (p.Asn820Tyr)
| |
| 1 | g.216246936T>C | CA344864754 | USH2A | c.2458A>G (p.Asn820Asp)
| dbSNP |
| 1 | g.216246936T>G | CA344864755 | USH2A | c.2458A>C (p.Asn820His)
| |
| 1 | g.216246936T= | CA1220619178 | USH2A | c.2458A= (p.Asn820=)
| |
| 1 | g.216246937G>A | CA423431938 | USH2A | c.2457C>T (p.Pro819=)
| |
| 1 | g.216246937G>C | CA423431939 | USH2A | c.2457C>G (p.Pro819=)
| |
| 1 | g.216246937G= | CA1220619179 | USH2A | c.2457C= (p.Pro819=)
| |
| 1 | g.216246937G>T | CA37501339 | USH2A | c.2457C>A (p.Pro819=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246938G>A | CA344864756 | USH2A | c.2456C>T (p.Pro819Leu)
| dbSNP |
| 1 | g.216246938G>C | CA344864757 | USH2A | c.2456C>G (p.Pro819Arg)
| |
| 1 | g.216246938G>T | CA344864758 | USH2A | c.2456C>A (p.Pro819His)
| |
| 1 | g.216246939G>A | CA344864759 | USH2A | c.2455C>T (p.Pro819Ser)
| gnomAD v4 |
| 1 | g.216246939G>C | CA344864761 | USH2A | c.2455C>G (p.Pro819Ala)
| |
| 1 | g.216246939G>T | CA344864760 | USH2A | c.2455C>A (p.Pro819Thr)
| |
| 1 | g.216246940C>A | CA344864762 | USH2A | c.2454G>T (p.Lys818Asn)
| |
| 1 | g.216246940C= | CA1220619180 | USH2A | c.2454G= (p.Lys818=)
| |
| 1 | g.216246940C>G | CA344864763 | USH2A | c.2454G>C (p.Lys818Asn)
| |
| 1 | g.216246940C>T | CA423431942 | USH2A | c.2454G>A (p.Lys818=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246941T>A | CA344864764 | USH2A | c.2453A>T (p.Lys818Met)
| COSMIC |
| 1 | g.216246941T>C | CA344864765 | USH2A | c.2453A>G (p.Lys818Arg)
| |
| 1 | g.216246941T>G | CA344864766 | USH2A | c.2453A>C (p.Lys818Thr)
| |
| 1 | g.216246942T>A | CA344864767 | USH2A | c.2452A>T (p.Lys818Ter)
| |
| 1 | g.216246942T>C | CA344864768 | USH2A | c.2452A>G (p.Lys818Glu)
| |
| 1 | g.216246942T>G | CA344864769 | USH2A | c.2452A>C (p.Lys818Gln)
| |
| 1 | g.216246943G>A | CA423431944 | USH2A | c.2451C>T (p.Cys817=)
| ClinVar dbSNP |
| 1 | g.216246943G>C | CA344864770 | USH2A | c.2451C>G (p.Cys817Trp)
| |
| 1 | g.216246943G>T | CA344864771 | USH2A | c.2451C>A (p.Cys817Ter)
| ClinVar |
| 1 | g.216246944C>A | CA344864772 | USH2A | c.2450G>T (p.Cys817Phe)
| |
| 1 | g.216246944C= | CA1220619181 | USH2A | c.2450G= (p.Cys817=)
| |
| 1 | g.216246944C>G | CA344864773 | USH2A | c.2450G>C (p.Cys817Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246944C>T | CA344864774 | USH2A | c.2450G>A (p.Cys817Tyr)
| gnomAD v4 |
| 1 | g.216246945A>C | CA344864775 | USH2A | c.2449T>G (p.Cys817Gly)
| |
| 1 | g.216246945A>G | CA344864777 | USH2A | c.2449T>C (p.Cys817Arg)
| ClinVar |
| 1 | g.216246945A>T | CA344864776 | USH2A | c.2449T>A (p.Cys817Ser)
| |
| 1 | g.216246946G>A | CA423431951 | USH2A | c.2448C>T (p.Ile816=)
| |
| 1 | g.216246946G>C | CA344864778 | USH2A | c.2448C>G (p.Ile816Met)
| |
| 1 | g.216246946G>T | CA423431955 | USH2A | c.2448C>A (p.Ile816=)
| |
| 1 | g.216246947_216246959del | CA913072829 | USH2A | c.2436_2448del (p.Gly813AlafsTer?)
| |
| 1 | g.216246947A>C | CA344864779 | USH2A | c.2447T>G (p.Ile816Ser)
| gnomAD v4 |
| 1 | g.216246947A>G | CA344864780 | USH2A | c.2447T>C (p.Ile816Thr)
| |
| 1 | g.216246947A>T | CA344864781 | USH2A | c.2447T>A (p.Ile816Asn)
| |
| 1 | g.216246947_216246959delinsATGCACTGCCCTG | CA1220619182 | USH2A | c.2435_2447delinsCAGGGCAGTGCAT (p.Thr812=)
| |
| 1 | g.216246948T>A | CA344864782 | USH2A | c.2446A>T (p.Ile816Phe)
| |
| 1 | g.216246948T>C | CA1396230 | USH2A | c.2446A>G (p.Ile816Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246948T>G | CA1396229 | USH2A | c.2446A>C (p.Ile816Leu)
| dbSNP ExAC gnomAD v2 |
| 1 | g.216246948T= | CA1220619183 | USH2A | c.2446A= (p.Ile816=)
| |
| 1 | g.216246949_216246960dup | CA37501343 | USH2A | c.2435_2446dup (p.Cys815_Ile816insThrGlyGlnCys)
| dbSNP |
| 1 | g.216246949_216246960del | CA1396228 | USH2A | c.2435_2446del (p.Thr812_Cys815del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246949G>A | CA423431963 | USH2A | c.2445C>T (p.Cys815=)
| |
| 1 | g.216246949G>C | CA344864783 | USH2A | c.2445C>G (p.Cys815Trp)
| |
| 1 | g.216246949G>T | CA344864784 | USH2A | c.2445C>A (p.Cys815Ter)
| |
| 1 | g.216246950C>A | CA344864785 | USH2A | c.2444G>T (p.Cys815Phe)
| |
| 1 | g.216246950C= | CA1220619184 | USH2A | c.2444G= (p.Cys815=)
| |
| 1 | g.216246950C>G | CA344864787 | USH2A | c.2444G>C (p.Cys815Ser)
| ClinVar dbSNP |
| 1 | g.216246950C>T | CA344864786 | USH2A | c.2444G>A (p.Cys815Tyr)
| gnomAD v4 |
| 1 | g.216246951A>C | CA344864788 | USH2A | c.2443T>G (p.Cys815Gly)
| |
| 1 | g.216246951A>G | CA344864790 | USH2A | c.2443T>C (p.Cys815Arg)
| |
| 1 | g.216246951A>T | CA344864789 | USH2A | c.2443T>A (p.Cys815Ser)
| |
| 1 | g.216246952C>A | CA344864791 | USH2A | c.2442G>T (p.Gln814His)
| |
| 1 | g.216246952C= | CA1220619185 | USH2A | c.2442G= (p.Gln814=)
| |
| 1 | g.216246952C>G | CA344864792 | USH2A | c.2442G>C (p.Gln814His)
| |
| 1 | g.216246952C>T | CA423431970 | USH2A | c.2442G>A (p.Gln814=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246953T>A | CA344864793 | USH2A | c.2441A>T (p.Gln814Leu)
| |
| 1 | g.216246953T>C | CA344864794 | USH2A | c.2441A>G (p.Gln814Arg)
| |
| 1 | g.216246953T>G | CA344864795 | USH2A | c.2441A>C (p.Gln814Pro)
| |
| 1 | g.216246954G>A | CA344864796 | USH2A | c.2440C>T (p.Gln814Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246954G>C | CA344864797 | USH2A | c.2440C>G (p.Gln814Glu)
| |
| 1 | g.216246954G= | CA1220619187 | USH2A | c.2440C= (p.Gln814=)
| |
| 1 | g.216246954G>T | CA344864798 | USH2A | c.2440C>A (p.Gln814Lys)
| |
| 1 | g.216246954_216246955delinsGC | CA1220619186 | USH2A | c.2439_2440delinsGC (p.Gly813=)
| |
| 1 | g.216246955C>A | CA423431980 | USH2A | c.2439G>T (p.Gly813=)
| |
| 1 | g.216246955C>G | CA423431982 | USH2A | c.2439G>C (p.Gly813=)
| ClinVar dbSNP |
| 1 | g.216246955C>T | CA423431985 | USH2A | c.2439G>A (p.Gly813=)
| |
| 1 | g.216246957del | CA731431711 | USH2A | c.2439del (p.Gln814SerfsTer?)
| ClinVar dbSNP |
| 1 | g.216246956C>A | CA344864799 | USH2A | c.2438G>T (p.Gly813Val)
| |
| 1 | g.216246956C= | CA1220619188 | USH2A | c.2438G= (p.Gly813=)
| |
| 1 | g.216246956C>G | CA344864800 | USH2A | c.2438G>C (p.Gly813Ala)
| |
| 1 | g.216246956C>T | CA344864801 | USH2A | c.2438G>A (p.Gly813Glu)
| dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
