| 1 | g.215866983C>T | CA2650504853 | USH2A | c.8845+24G>A (n.8845+24G>A)
| gnomAD v4 |
| 1 | g.215866985C= | CA1220455643 | USH2A | c.8845+22G= (n.8845+22G=)
| |
| 1 | g.215866985C>G | CA1394486 | USH2A | c.8845+22G>C (n.8845+22G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215866987G>A | CA1394487 | USH2A | c.8845+20C>T (n.8845+20C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215866987G= | CA1149070078 | USH2A | c.8845+20C= (n.8845+20C=)
| |
| 1 | g.215866988G>T | CA2650504854 | USH2A | c.8845+19C>A (n.8845+19C>A)
| gnomAD v4 |
| 1 | g.215866989T>C | CA1394488 | USH2A | c.8845+18A>G (n.8845+18A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215866989T= | CA1220455644 | USH2A | c.8845+18A= (n.8845+18A=)
| |
| 1 | g.215866991T>G | CA2574133180 | USH2A | c.8845+16A>C (n.8845+16A>C)
| gnomAD v4 |
| 1 | g.215866992G>A | CA731385865 | USH2A | c.8845+15C>T (n.8845+15C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215866992G= | CA1220455645 | USH2A | c.8845+15C= (n.8845+15C=)
| |
| 1 | g.215866993A= | CA1220455646 | USH2A | c.8845+14T= (n.8845+14T=)
| |
| 1 | g.215866993A>G | CA1394489 | USH2A | c.8845+14T>C (n.8845+14T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215866994G>A | CA2650504855 | USH2A | c.8845+13C>T (n.8845+13C>T)
| gnomAD v4 |
| 1 | g.215866995A>T | CA2580062058 | USH2A | c.8845+12T>A (n.8845+12T>A)
| ClinVar |
| 1 | g.215866997G>A | CA2499214476 | USH2A | c.8845+10C>T (n.8845+10C>T)
| ClinVar dbSNP |
| 1 | g.215866997_215867001delinsGCTTA | CA1220455647 | USH2A | c.8845+6_8845+10delinsTAAGC (n.8845+6_8845+10delinsTAAGC)
| |
| 1 | g.215866998C= | CA1148720330 | USH2A | c.8845+9G= (n.8845+9G=)
| |
| 1 | g.215866998C>G | CA1394491 | USH2A | c.8845+9G>C (n.8845+9G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215866998C>T | CA1220455648 | USH2A | c.8845+9G>A (n.8845+9G>A)
| dbSNP |
| 1 | g.215866998_215867008delinsCTTACTTACTT | CA1145309353 | USH2A | c.8844_8845+9delinsAAGTAAGTAAG
| |
| 1 | g.215867005_215867008del | CA1394490 | USH2A | c.8845+6_8845+9del
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215866999T>C | CA2574133181 | USH2A | c.8845+8A>G (n.8845+8A>G)
| ClinVar |
| 1 | g.215866999T>G | CA2574133182 | USH2A | c.8845+8A>C (n.8845+8A>C)
| gnomAD v4 |
| 1 | g.215867001A= | CA1220455649 | USH2A | c.8845+6T= (n.8845+6T=)
| |
| 1 | g.215867001A>G | CA529002448 | USH2A | c.8845+6T>C (n.8845+6T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867002C>A | CA2574133183 | USH2A | c.8845+5G>T (n.8845+5G>T)
| |
| 1 | g.215867002C>G | CA2586968203 | USH2A | c.8845+5G>C (n.8845+5G>C)
| |
| 1 | g.215867002C>T | CA2747724323 | USH2A | c.8845+5G>A (n.8845+5G>A)
| |
| 1 | g.215867003T>A | CA2650504856 | USH2A | c.8845+4A>T (n.8845+4A>T)
| gnomAD v4 |
| 1 | g.215867003T>C | CA16043871 | USH2A | c.8845+4A>G (n.8845+4A>G)
| ClinVar dbSNP |
| 1 | g.215867003T= | CA1220455650 | USH2A | c.8845+4A= (n.8845+4A=)
| |
| 1 | g.215867005A= | CA1220455651 | USH2A | c.8845+2T= (n.8845+2T=)
| |
| 1 | g.215867005A>C | CA344850883 | USH2A | c.8845+2T>G (n.8845+2T>G)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867005A>G | CA344850888 | USH2A | c.8845+2T>C (n.8845+2T>C)
| |
| 1 | g.215867005A>T | CA344850886 | USH2A | c.8845+2T>A (n.8845+2T>A)
| |
| 1 | g.215867006C>A | CA344850890 | USH2A | c.8845+1G>T (n.8845+1G>T)
| |
| 1 | g.215867006C= | CA1220455652 | USH2A | c.8845+1G= (n.8845+1G=)
| |
| 1 | g.215867006C>G | CA344850893 | USH2A | c.8845+1G>C (n.8845+1G>C)
| |
| 1 | g.215867006C>T | CA344850895 | USH2A | c.8845+1G>A (n.8845+1G>A)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215867007T>A | CA344850899 | USH2A | c.8845A>T (p.Thr2949Ser)
| |
| 1 | g.215867007T>C | CA344850901 | USH2A | c.8845A>G (p.Thr2949Ala)
| dbSNP |
| 1 | g.215867007T>G | CA344850904 | USH2A | c.8845A>C (p.Thr2949Pro)
| |
| 1 | g.215867007T= | CA1220455653 | USH2A | c.8845A= (p.Thr2949=)
| |
| 1 | g.215867008T>A | CA423313746 | USH2A | c.8844A>T (p.Pro2948=)
| |
| 1 | g.215867008T>C | CA423313747 | USH2A | c.8844A>G (p.Pro2948=)
| |
| 1 | g.215867008T>G | CA423313748 | USH2A | c.8844A>C (p.Pro2948=)
| |
| 1 | g.215867009G>A | CA344850907 | USH2A | c.8843C>T (p.Pro2948Leu)
| gnomAD v4 |
| 1 | g.215867009G>C | CA344850909 | USH2A | c.8843C>G (p.Pro2948Arg)
| |
| 1 | g.215867009G= | CA1220455654 | USH2A | c.8843C= (p.Pro2948=)
| |
| 1 | g.215867009G>T | CA344850911 | USH2A | c.8843C>A (p.Pro2948Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867010del | CA2650504857 | USH2A | c.8843del (p.Pro2948GlnfsTer26)
| gnomAD v4 |
| 1 | g.215867010G>A | CA1394492 | USH2A | c.8842C>T (p.Pro2948Ser)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.215867010G>C | CA344850916 | USH2A | c.8842C>G (p.Pro2948Ala)
| COSMIC COSMIC |
| 1 | g.215867010G= | CA1141860159 | USH2A | c.8842C= (p.Pro2948=)
| |
| 1 | g.215867010G>T | CA344850918 | USH2A | c.8842C>A (p.Pro2948Thr)
| |
| 1 | g.215867011T>A | CA1394493 | USH2A | c.8841A>T (p.Lys2947Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867011T>C | CA423313750 | USH2A | c.8841A>G (p.Lys2947=)
| |
| 1 | g.215867011T>G | CA344850922 | USH2A | c.8841A>C (p.Lys2947Asn)
| |
| 1 | g.215867011T= | CA1220455655 | USH2A | c.8841A= (p.Lys2947=)
| |
| 1 | g.215867013del | CA2650504858 | USH2A | c.8841del (p.Lys2947AsnfsTer27)
| gnomAD v4 |
| 1 | g.215867012T>A | CA344850926 | USH2A | c.8840A>T (p.Lys2947Ile)
| |
| 1 | g.215867012T>C | CA344850928 | USH2A | c.8840A>G (p.Lys2947Arg)
| |
| 1 | g.215867012T>G | CA344850930 | USH2A | c.8840A>C (p.Lys2947Thr)
| gnomAD v4 |
| 1 | g.215867013T>A | CA344850933 | USH2A | c.8839A>T (p.Lys2947Ter)
| |
| 1 | g.215867013T>C | CA344850934 | USH2A | c.8839A>G (p.Lys2947Glu)
| |
| 1 | g.215867013T>G | CA344850935 | USH2A | c.8839A>C (p.Lys2947Gln)
| |
| 1 | g.215867014A>C | CA423313752 | USH2A | c.8838T>G (p.Ala2946=)
| |
| 1 | g.215867014A>G | CA423313753 | USH2A | c.8838T>C (p.Ala2946=)
| |
| 1 | g.215867014A>T | CA423313754 | USH2A | c.8838T>A (p.Ala2946=)
| |
| 1 | g.215867015G>A | CA344850939 | USH2A | c.8837C>T (p.Ala2946Val)
| |
| 1 | g.215867015G>C | CA344850941 | USH2A | c.8837C>G (p.Ala2946Gly)
| |
| 1 | g.215867015G>T | CA344850944 | USH2A | c.8837C>A (p.Ala2946Asp)
| |
| 1 | g.215867016C>A | CA344850948 | USH2A | c.8836G>T (p.Ala2946Ser)
| |
| 1 | g.215867016C>G | CA344850950 | USH2A | c.8836G>C (p.Ala2946Pro)
| |
| 1 | g.215867016C>T | CA344850952 | USH2A | c.8836G>A (p.Ala2946Thr)
| gnomAD v4 |
| 1 | g.215867017C>A | CA344850961 | USH2A | c.8835G>T (p.Trp2945Cys)
| dbSNP COSMIC COSMIC |
| 1 | g.215867017C= | CA1220455656 | USH2A | c.8835G= (p.Trp2945=)
| |
| 1 | g.215867017C>G | CA344850959 | USH2A | c.8835G>C (p.Trp2945Cys)
| |
| 1 | g.215867017C>T | CA344850957 | USH2A | c.8835G>A (p.Trp2945Ter)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215867018C>A | CA344850965 | USH2A | c.8834G>T (p.Trp2945Leu)
| |
| 1 | g.215867018C= | CA1220455657 | USH2A | c.8834G= (p.Trp2945=)
| |
| 1 | g.215867018C>G | CA344850967 | USH2A | c.8834G>C (p.Trp2945Ser)
| |
| 1 | g.215867018C>T | CA1394494 | USH2A | c.8834G>A (p.Trp2945Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867019A>C | CA344850971 | USH2A | c.8833T>G (p.Trp2945Gly)
| |
| 1 | g.215867019A>G | CA344850973 | USH2A | c.8833T>C (p.Trp2945Arg)
| |
| 1 | g.215867019A>T | CA344850976 | USH2A | c.8833T>A (p.Trp2945Arg)
| |
| 1 | g.215867020C>A | CA344850979 | USH2A | c.8832G>T (p.Arg2944Ser)
| |
| 1 | g.215867020C>G | CA344850981 | USH2A | c.8832G>C (p.Arg2944Ser)
| |
| 1 | g.215867020C>T | CA423313757 | USH2A | c.8832G>A (p.Arg2944=)
| gnomAD v4 |
| 1 | g.215867021C>A | CA344850985 | USH2A | c.8831G>T (p.Arg2944Met)
| |
| 1 | g.215867021C>G | CA344850987 | USH2A | c.8831G>C (p.Arg2944Thr)
| |
| 1 | g.215867021C>T | CA344850989 | USH2A | c.8831G>A (p.Arg2944Lys)
| |
| 1 | g.215867022T>A | CA344850993 | USH2A | c.8830A>T (p.Arg2944Trp)
| |
| 1 | g.215867022T>C | CA344850995 | USH2A | c.8830A>G (p.Arg2944Gly)
| |
| 1 | g.215867022T>G | CA423313761 | USH2A | c.8830A>C (p.Arg2944=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867022T= | CA1220455658 | USH2A | c.8830A= (p.Arg2944=)
| |
| 1 | g.215867023C>A | CA423313762 | USH2A | c.8829G>T (p.Val2943=)
| ClinVar dbSNP |
| 1 | g.215867023C>G | CA423313764 | USH2A | c.8829G>C (p.Val2943=)
| |
| 1 | g.215867023C>T | CA423313763 | USH2A | c.8829G>A (p.Val2943=)
| |
| 1 | g.215867024A>C | CA344851003 | USH2A | c.8828T>G (p.Val2943Gly)
| |
| 1 | g.215867024A>G | CA344851001 | USH2A | c.8828T>C (p.Val2943Ala)
| |
| 1 | g.215867024A>T | CA344850998 | USH2A | c.8828T>A (p.Val2943Glu)
| |
| 1 | g.215867025C>A | CA344851006 | USH2A | c.8827G>T (p.Val2943Leu)
| dbSNP |
| 1 | g.215867025C= | CA1142252383 | USH2A | c.8827G= (p.Val2943=)
| |
| 1 | g.215867025C>G | CA344851008 | USH2A | c.8827G>C (p.Val2943Leu)
| |
| 1 | g.215867025C>T | CA1394495 | USH2A | c.8827G>A (p.Val2943Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867026G>A | CA1394496 | USH2A | c.8826C>T (p.Asp2942=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867026G>C | CA344851015 | USH2A | c.8826C>G (p.Asp2942Glu)
| gnomAD v4 |
| 1 | g.215867026G= | CA1220455659 | USH2A | c.8826C= (p.Asp2942=)
| |
| 1 | g.215867026G>T | CA344851018 | USH2A | c.8826C>A (p.Asp2942Glu)
| dbSNP |
| 1 | g.215867027T>A | CA344851021 | USH2A | c.8825A>T (p.Asp2942Val)
| COSMIC COSMIC |
| 1 | g.215867027T>C | CA344851023 | USH2A | c.8825A>G (p.Asp2942Gly)
| gnomAD v4 |
| 1 | g.215867027T>G | CA344851025 | USH2A | c.8825A>C (p.Asp2942Ala)
| |
| 1 | g.215867028C>A | CA344851028 | USH2A | c.8824G>T (p.Asp2942Tyr)
| |
| 1 | g.215867028C= | CA1220455660 | USH2A | c.8824G= (p.Asp2942=)
| |
| 1 | g.215867028C>G | CA344851031 | USH2A | c.8824G>C (p.Asp2942His)
| COSMIC COSMIC |
| 1 | g.215867028C>T | CA1394497 | USH2A | c.8824G>A (p.Asp2942Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867029G>A | CA1394498 | USH2A | c.8823C>T (p.Ile2941=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215867029G>C | CA344851036 | USH2A | c.8823C>G (p.Ile2941Met)
| |
| 1 | g.215867029G= | CA1220455661 | USH2A | c.8823C= (p.Ile2941=)
| |
| 1 | g.215867029G>T | CA423313769 | USH2A | c.8823C>A (p.Ile2941=)
| ClinVar dbSNP gnomAD v2 |
| 1 | g.215867030A>C | CA344851041 | USH2A | c.8822T>G (p.Ile2941Ser)
| |
| 1 | g.215867030A>G | CA344851043 | USH2A | c.8822T>C (p.Ile2941Thr)
| COSMIC COSMIC |
| 1 | g.215867030A>T | CA344851039 | USH2A | c.8822T>A (p.Ile2941Asn)
| |
| 1 | g.215867031T>A | CA344851044 | USH2A | c.8821A>T (p.Ile2941Phe)
| |
| 1 | g.215867031T>C | CA344851046 | USH2A | c.8821A>G (p.Ile2941Val)
| dbSNP |
| 1 | g.215867031T>G | CA344851048 | USH2A | c.8821A>C (p.Ile2941Leu)
| |
| 1 | g.215867031T= | CA1220455662 | USH2A | c.8821A= (p.Ile2941=)
| |
| 1 | g.215867032G>A | CA423313771 | USH2A | c.8820C>T (p.Ala2940=)
| |
| 1 | g.215867032G>C | CA423313772 | USH2A | c.8820C>G (p.Ala2940=)
| |
| 1 | g.215867032G>T | CA423313773 | USH2A | c.8820C>A (p.Ala2940=)
| |
| 1 | g.215867033G>A | CA344851049 | USH2A | c.8819C>T (p.Ala2940Val)
| |
| 1 | g.215867033G>C | CA344851051 | USH2A | c.8819C>G (p.Ala2940Gly)
| |
| 1 | g.215867033G>T | CA344851053 | USH2A | c.8819C>A (p.Ala2940Asp)
| |
| 1 | g.215867034C>A | CA344851057 | USH2A | c.8818G>T (p.Ala2940Ser)
| |
| 1 | g.215867034C>G | CA344851058 | USH2A | c.8818G>C (p.Ala2940Pro)
| |
| 1 | g.215867034C>T | CA344851061 | USH2A | c.8818G>A (p.Ala2940Thr)
| |
| 1 | g.215867035T>A | CA1394499 | USH2A | c.8817A>T (p.Thr2939=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867035T>C | CA423313776 | USH2A | c.8817A>G (p.Thr2939=)
| |
| 1 | g.215867035T>G | CA423313777 | USH2A | c.8817A>C (p.Thr2939=)
| |
| 1 | g.215867035T= | CA1220455663 | USH2A | c.8817A= (p.Thr2939=)
| |
| 1 | g.215867036G>A | CA1394500 | USH2A | c.8816C>T (p.Thr2939Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867036G>C | CA344851067 | USH2A | c.8816C>G (p.Thr2939Arg)
| |
| 1 | g.215867036G= | CA1220455664 | USH2A | c.8816C= (p.Thr2939=)
| |
| 1 | g.215867036G>T | CA344851069 | USH2A | c.8816C>A (p.Thr2939Lys)
| |
| 1 | g.215867037T>A | CA344851071 | USH2A | c.8815A>T (p.Thr2939Ser)
| |
| 1 | g.215867037T>C | CA344851076 | USH2A | c.8815A>G (p.Thr2939Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867037T>G | CA344851074 | USH2A | c.8815A>C (p.Thr2939Pro)
| |
| 1 | g.215867037T= | CA1220455665 | USH2A | c.8815A= (p.Thr2939=)
| |
| 1 | g.215867038G>A | CA423313779 | USH2A | c.8814C>T (p.His2938=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215867038G>C | CA344851078 | USH2A | c.8814C>G (p.His2938Gln)
| dbSNP |
| 1 | g.215867038G= | CA1220455666 | USH2A | c.8814C= (p.His2938=)
| |
| 1 | g.215867038G>T | CA344851080 | USH2A | c.8814C>A (p.His2938Gln)
| |
| 1 | g.215867039T>A | CA344851086 | USH2A | c.8813A>T (p.His2938Leu)
| |
| 1 | g.215867039T>C | CA344851088 | USH2A | c.8813A>G (p.His2938Arg)
| |
| 1 | g.215867039T>G | CA344851090 | USH2A | c.8813A>C (p.His2938Pro)
| |
| 1 | g.215867040G>A | CA344851093 | USH2A | c.8812C>T (p.His2938Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867040G>C | CA344851095 | USH2A | c.8812C>G (p.His2938Asp)
| gnomAD v4 |
| 1 | g.215867040G= | CA1220455667 | USH2A | c.8812C= (p.His2938=)
| |
| 1 | g.215867040G>T | CA344851097 | USH2A | c.8812C>A (p.His2938Asn)
| |
| 1 | g.215867041G>A | CA423313783 | USH2A | c.8811C>T (p.Asn2937=)
| gnomAD v4 |
| 1 | g.215867041G>C | CA344851101 | USH2A | c.8811C>G (p.Asn2937Lys)
| |
| 1 | g.215867041G= | CA1145565860 | USH2A | c.8811C= (p.Asn2937=)
| |
| 1 | g.215867041G>T | CA1394501 | USH2A | c.8811C>A (p.Asn2937Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867042T>A | CA344851111 | USH2A | c.8810A>T (p.Asn2937Ile)
| |
| 1 | g.215867042T>C | CA344851108 | USH2A | c.8810A>G (p.Asn2937Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867042T>G | CA344851105 | USH2A | c.8810A>C (p.Asn2937Thr)
| |
| 1 | g.215867042T= | CA1220455668 | USH2A | c.8810A= (p.Asn2937=)
| |
| 1 | g.215867043T>A | CA344851113 | USH2A | c.8809A>T (p.Asn2937Tyr)
| |
| 1 | g.215867043T>C | CA344851118 | USH2A | c.8809A>G (p.Asn2937Asp)
| |
| 1 | g.215867043T>G | CA344851116 | USH2A | c.8809A>C (p.Asn2937His)
| |
| 1 | g.215867044A>C | CA423313785 | USH2A | c.8808T>G (p.Leu2936=)
| |
| 1 | g.215867044A>G | CA423313786 | USH2A | c.8808T>C (p.Leu2936=)
| |
| 1 | g.215867044A>T | CA423313787 | USH2A | c.8808T>A (p.Leu2936=)
| |
| 1 | g.215867045A>C | CA344851121 | USH2A | c.8807T>G (p.Leu2936Arg)
| |
| 1 | g.215867045A>G | CA344851127 | USH2A | c.8807T>C (p.Leu2936Pro)
| |
| 1 | g.215867045A>T | CA344851124 | USH2A | c.8807T>A (p.Leu2936His)
| |
| 1 | g.215867046_215867050del | CA645523113 | USH2A | c.8803_8807del (p.Val2935Ter)
| COSMIC COSMIC |
| 1 | g.215867046G>A | CA344851129 | USH2A | c.8806C>T (p.Leu2936Phe)
| |
| 1 | g.215867046G>C | CA344851133 | USH2A | c.8806C>G (p.Leu2936Val)
| |
| 1 | g.215867046G>T | CA344851131 | USH2A | c.8806C>A (p.Leu2936Ile)
| |
| 1 | g.215867047G>A | CA143642 | USH2A | c.8805C>T (p.Val2935=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867047G>C | CA423313791 | USH2A | c.8805C>G (p.Val2935=)
| |
| 1 | g.215867047G= | CA1141189302 | USH2A | c.8805C= (p.Val2935=)
| |
| 1 | g.215867047G>T | CA423313792 | USH2A | c.8805C>A (p.Val2935=)
| |
| 1 | g.215867048A>C | CA344851138 | USH2A | c.8804T>G (p.Val2935Gly)
| |
| 1 | g.215867048A>G | CA344851140 | USH2A | c.8804T>C (p.Val2935Ala)
| |
| 1 | g.215867048A>T | CA344851142 | USH2A | c.8804T>A (p.Val2935Asp)
| |
| 1 | g.215867049C>A | CA344851146 | USH2A | c.8803G>T (p.Val2935Phe)
| |
| 1 | g.215867049C= | CA1220455669 | USH2A | c.8803G= (p.Val2935=)
| |
| 1 | g.215867049C>G | CA344851148 | USH2A | c.8803G>C (p.Val2935Leu)
| |
| 1 | g.215867049C>T | CA37459364 | USH2A | c.8803G>A (p.Val2935Ile)
| dbSNP |
| 1 | g.215867050A>C | CA344851150 | USH2A | c.8802T>G (p.Ser2934Arg)
| |
| 1 | g.215867050A>G | CA423313794 | USH2A | c.8802T>C (p.Ser2934=)
| gnomAD v4 |
| 1 | g.215867050A>T | CA344851152 | USH2A | c.8802T>A (p.Ser2934Arg)
| |
| 1 | g.215867051C>A | CA344851154 | USH2A | c.8801G>T (p.Ser2934Ile)
| |
| 1 | g.215867051C= | CA1220455670 | USH2A | c.8801G= (p.Ser2934=)
| |
| 1 | g.215867051C>G | CA344851155 | USH2A | c.8801G>C (p.Ser2934Thr)
| ClinVar dbSNP |
| 1 | g.215867051C>T | CA344851157 | USH2A | c.8801G>A (p.Ser2934Asn)
| |
| 1 | g.215867052T>A | CA344851160 | USH2A | c.8800A>T (p.Ser2934Cys)
| |
| 1 | g.215867052T>C | CA344851159 | USH2A | c.8800A>G (p.Ser2934Gly)
| |
| 1 | g.215867052T>G | CA344851158 | USH2A | c.8800A>C (p.Ser2934Arg)
| |
| 1 | g.215867053C>A | CA423313796 | USH2A | c.8799G>T (p.Ala2933=)
| |
| 1 | g.215867053C= | CA1220455671 | USH2A | c.8799G= (p.Ala2933=)
| |
| 1 | g.215867053C>G | CA37459366 | USH2A | c.8799G>C (p.Ala2933=)
| ClinVar dbSNP |
| 1 | g.215867053C>T | CA1394502 | USH2A | c.8799G>A (p.Ala2933=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867054G>A | CA1394503 | USH2A | c.8798C>T (p.Ala2933Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215867054G>C | CA344851167 | USH2A | c.8798C>G (p.Ala2933Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867054G= | CA1220455672 | USH2A | c.8798C= (p.Ala2933=)
| |
| 1 | g.215867054G>T | CA1394504 | USH2A | c.8798C>A (p.Ala2933Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867055C>A | CA344851171 | USH2A | c.8797G>T (p.Ala2933Ser)
| |
| 1 | g.215867055C>G | CA344851173 | USH2A | c.8797G>C (p.Ala2933Pro)
| |
| 1 | g.215867055C>T | CA344851176 | USH2A | c.8797G>A (p.Ala2933Thr)
| |
| 1 | g.215867056A>C | CA423313800 | USH2A | c.8796T>G (p.Thr2932=)
| |
| 1 | g.215867056A>G | CA423313801 | USH2A | c.8796T>C (p.Thr2932=)
| ClinVar dbSNP |
| 1 | g.215867056A>T | CA423313802 | USH2A | c.8796T>A (p.Thr2932=)
| |
| 1 | g.215867057G>A | CA344851180 | USH2A | c.8795C>T (p.Thr2932Ile)
| |
| 1 | g.215867057G>C | CA344851182 | USH2A | c.8795C>G (p.Thr2932Ser)
| |
| 1 | g.215867057G>T | CA344851184 | USH2A | c.8795C>A (p.Thr2932Asn)
| |
| 1 | g.215867058T>A | CA344851187 | USH2A | c.8794A>T (p.Thr2932Ser)
| |
| 1 | g.215867058T>C | CA344851189 | USH2A | c.8794A>G (p.Thr2932Ala)
| |
| 1 | g.215867058T>G | CA344851191 | USH2A | c.8794A>C (p.Thr2932Pro)
| gnomAD v4 |
| 1 | g.215867059G>A | CA423313808 | USH2A | c.8793C>T (p.Leu2931=)
| |
| 1 | g.215867059G>C | CA423313807 | USH2A | c.8793C>G (p.Leu2931=)
| |
| 1 | g.215867059G>T | CA423313806 | USH2A | c.8793C>A (p.Leu2931=)
| |
| 1 | g.215867060A>C | CA344851195 | USH2A | c.8792T>G (p.Leu2931Arg)
| |
| 1 | g.215867060A>G | CA344851198 | USH2A | c.8792T>C (p.Leu2931Pro)
| |
| 1 | g.215867060A>T | CA344851194 | USH2A | c.8792T>A (p.Leu2931His)
| |
| 1 | g.215867061G>A | CA344851200 | USH2A | c.8791C>T (p.Leu2931Phe)
| |
| 1 | g.215867061G>C | CA344851204 | USH2A | c.8791C>G (p.Leu2931Val)
| |
| 1 | g.215867061G>T | CA344851206 | USH2A | c.8791C>A (p.Leu2931Ile)
| |
| 1 | g.215867062A= | CA1220455673 | USH2A | c.8790T= (p.Asn2930=)
| |
| 1 | g.215867062A>C | CA1394505 | USH2A | c.8790T>G (p.Asn2930Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867062A>G | CA423313815 | USH2A | c.8790T>C (p.Asn2930=)
| |
| 1 | g.215867062A>T | CA344851210 | USH2A | c.8790T>A (p.Asn2930Lys)
| |
| 1 | g.215867063T>A | CA1394507 | USH2A | c.8789A>T (p.Asn2930Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867063T>C | CA1394506 | USH2A | c.8789A>G (p.Asn2930Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867063T>G | CA344851215 | USH2A | c.8789A>C (p.Asn2930Thr)
| |
| 1 | g.215867063T= | CA1220455674 | USH2A | c.8789A= (p.Asn2930=)
| |
| 1 | g.215867064T>A | CA344851219 | USH2A | c.8788A>T (p.Asn2930Tyr)
| |
| 1 | g.215867064T>C | CA344851221 | USH2A | c.8788A>G (p.Asn2930Asp)
| |
| 1 | g.215867064T>G | CA344851223 | USH2A | c.8788A>C (p.Asn2930His)
| |
| 1 | g.215867065G>A | CA423313820 | USH2A | c.8787C>T (p.Ala2929=)
| |
| 1 | g.215867065G>C | CA1394508 | USH2A | c.8787C>G (p.Ala2929=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867065G= | CA1143779703 | USH2A | c.8787C= (p.Ala2929=)
| |
| 1 | g.215867065G>T | CA423313821 | USH2A | c.8787C>A (p.Ala2929=)
| |
| 1 | g.215867066G>A | CA37459397 | USH2A | c.8786C>T (p.Ala2929Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867066G>C | CA1394509 | USH2A | c.8786C>G (p.Ala2929Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867066G= | CA1143484352 | USH2A | c.8786C= (p.Ala2929=)
| |
| 1 | g.215867066G>T | CA344851231 | USH2A | c.8786C>A (p.Ala2929Asp)
| gnomAD v4 |
| 1 | g.215867067C>A | CA344851233 | USH2A | c.8785G>T (p.Ala2929Ser)
| COSMIC COSMIC |
| 1 | g.215867067C= | CA1220455675 | USH2A | c.8785G= (p.Ala2929=)
| |
| 1 | g.215867067C>G | CA344851235 | USH2A | c.8785G>C (p.Ala2929Pro)
| |
| 1 | g.215867067C>T | CA344851236 | USH2A | c.8785G>A (p.Ala2929Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867068T>A | CA423313822 | USH2A | c.8784A>T (p.Gly2928=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867068T>C | CA37459400 | USH2A | c.8784A>G (p.Gly2928=)
| dbSNP gnomAD v4 |
| 1 | g.215867068T>G | CA423313823 | USH2A | c.8784A>C (p.Gly2928=)
| |
| 1 | g.215867068T= | CA1141325005 | USH2A | c.8784A= (p.Gly2928=)
| |
| 1 | g.215867069C>A | CA344851242 | USH2A | c.8783G>T (p.Gly2928Val)
| ClinVar dbSNP gnomAD v2 |
| 1 | g.215867069C= | CA1148397882 | USH2A | c.8783G= (p.Gly2928=)
| |
| 1 | g.215867069C>G | CA344851245 | USH2A | c.8783G>C (p.Gly2928Ala)
| |
| 1 | g.215867069C>T | CA1394510 | USH2A | c.8783G>A (p.Gly2928Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867070C>A | CA344851250 | USH2A | c.8782G>T (p.Gly2928Ter)
| ClinVar dbSNP |
| 1 | g.215867070C= | CA1220455676 | USH2A | c.8782G= (p.Gly2928=)
| |
| 1 | g.215867070C>G | CA344851251 | USH2A | c.8782G>C (p.Gly2928Arg)
| |
| 1 | g.215867070C>T | CA344851253 | USH2A | c.8782G>A (p.Gly2928Arg)
| dbSNP gnomAD v4 |
| 1 | g.215867076_215867077del | CA2586968204 | USH2A | c.8781_8782del (p.Gly2928SerfsTer9)
| |
| 1 | g.215867074_215867077del | CA2650504859 | USH2A | c.8779_8782del (p.Arg2927GlufsTer16)
| gnomAD v4 |
| 1 | g.215867070_215867071insCT | CA645523114 | USH2A | c.8781_8782insAG (p.Gly2928ArgfsTer17)
| COSMIC COSMIC |
| 1 | g.215867071T>A | CA344851257 | USH2A | c.8781A>T (p.Arg2927Ser)
| |
| 1 | g.215867071T>C | CA423313829 | USH2A | c.8781A>G (p.Arg2927=)
| |
| 1 | g.215867071T>G | CA344851255 | USH2A | c.8781A>C (p.Arg2927Ser)
| |
| 1 | g.215867072C>A | CA344851261 | USH2A | c.8780G>T (p.Arg2927Ile)
| |
| 1 | g.215867072C= | CA1220455677 | USH2A | c.8780G= (p.Arg2927=)
| |
| 1 | g.215867072C>G | CA344851264 | USH2A | c.8780G>C (p.Arg2927Thr)
| ClinVar |
| 1 | g.215867072C>T | CA37459410 | USH2A | c.8780G>A (p.Arg2927Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867073T>A | CA344851268 | USH2A | c.8779A>T (p.Arg2927Ter)
| |
| 1 | g.215867073T>C | CA344851271 | USH2A | c.8779A>G (p.Arg2927Gly)
| |
| 1 | g.215867073T>G | CA423313834 | USH2A | c.8779A>C (p.Arg2927=)
| |
| 1 | g.215867074C>A | CA1394512 | USH2A | c.8778G>T (p.Glu2926Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867074C= | CA1143974986 | USH2A | c.8778G= (p.Glu2926=)
| |
| 1 | g.215867074C>G | CA344851275 | USH2A | c.8778G>C (p.Glu2926Asp)
| |
| 1 | g.215867074C>T | CA1394511 | USH2A | c.8778G>A (p.Glu2926=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867075T>A | CA344851280 | USH2A | c.8777A>T (p.Glu2926Val)
| |
| 1 | g.215867075T>C | CA344851282 | USH2A | c.8777A>G (p.Glu2926Gly)
| |
| 1 | g.215867075T>G | CA344851285 | USH2A | c.8777A>C (p.Glu2926Ala)
| |
| 1 | g.215867076C>A | CA344851289 | USH2A | c.8776G>T (p.Glu2926Ter)
| |
| 1 | g.215867076C>G | CA344851291 | USH2A | c.8776G>C (p.Glu2926Gln)
| |
| 1 | g.215867076C>T | CA344851294 | USH2A | c.8776G>A (p.Glu2926Lys)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215867077T>A | CA423313840 | USH2A | c.8775A>T (p.Pro2925=)
| COSMIC COSMIC |
| 1 | g.215867077T>C | CA423313842 | USH2A | c.8775A>G (p.Pro2925=)
| |
| 1 | g.215867077T>G | CA423313843 | USH2A | c.8775A>C (p.Pro2925=)
| |
| 1 | g.215867078G>A | CA344851302 | USH2A | c.8774C>T (p.Pro2925Leu)
| |
| 1 | g.215867078G>C | CA344851298 | USH2A | c.8774C>G (p.Pro2925Arg)
| |
| 1 | g.215867078G>T | CA344851300 | USH2A | c.8774C>A (p.Pro2925Gln)
| |
| 1 | g.215867079G>A | CA344851305 | USH2A | c.8773C>T (p.Pro2925Ser)
| |
| 1 | g.215867079G>C | CA344851306 | USH2A | c.8773C>G (p.Pro2925Ala)
| |
| 1 | g.215867079G>T | CA344851308 | USH2A | c.8773C>A (p.Pro2925Thr)
| |
| 1 | g.215867080A>C | CA423313844 | USH2A | c.8772T>G (p.Leu2924=)
| |
| 1 | g.215867080A>G | CA423313845 | USH2A | c.8772T>C (p.Leu2924=)
| |
| 1 | g.215867080A>T | CA423313846 | USH2A | c.8772T>A (p.Leu2924=)
| |
| 1 | g.215867081A= | CA1220455678 | USH2A | c.8771T= (p.Leu2924=)
| |
| 1 | g.215867081A>C | CA344851310 | USH2A | c.8771T>G (p.Leu2924Arg)
| |
| 1 | g.215867081A>G | CA344851313 | USH2A | c.8771T>C (p.Leu2924Pro)
| |
| 1 | g.215867081A>T | CA1394513 | USH2A | c.8771T>A (p.Leu2924His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867082G>A | CA344851319 | USH2A | c.8770C>T (p.Leu2924Phe)
| |
| 1 | g.215867082G>C | CA344851321 | USH2A | c.8770C>G (p.Leu2924Val)
| |
| 1 | g.215867082G>T | CA344851324 | USH2A | c.8770C>A (p.Leu2924Ile)
| |
| 1 | g.215867083del | CA2586968205 | USH2A | c.8769del (p.Leu2924PhefsTer20)
| |
| 1 | g.215867083A>C | CA423313850 | USH2A | c.8769T>G (p.Gly2923=)
| |
| 1 | g.215867083A>G | CA423313852 | USH2A | c.8769T>C (p.Gly2923=)
| |
| 1 | g.215867083A>T | CA423313853 | USH2A | c.8769T>A (p.Gly2923=)
| |
