1 | g.215779943A= | CA1220414604 | USH2A | c.10839T= (p.Pro3613=)
| |
1 | g.215779943A>C | CA423312976 | USH2A | c.10839T>G (p.Pro3613=)
| |
1 | g.215779943A>G | CA37435785 | USH2A | c.10839T>C (p.Pro3613=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215779943A>T | CA423312977 | USH2A | c.10839T>A (p.Pro3613=)
| COSMIC |
1 | g.215779944G>A | CA344833886 | USH2A | c.10838C>T (p.Pro3613Leu)
| |
1 | g.215779944G>C | CA344833891 | USH2A | c.10838C>G (p.Pro3613Arg)
| |
1 | g.215779944G= | CA1220414609 | USH2A | c.10838C= (p.Pro3613=)
| |
1 | g.215779944G>T | CA344833895 | USH2A | c.10838C>A (p.Pro3613His)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215779945G>A | CA344833899 | USH2A | c.10837C>T (p.Pro3613Ser)
| |
1 | g.215779945G>C | CA344833904 | USH2A | c.10837C>G (p.Pro3613Ala)
| |
1 | g.215779945G= | CA1220414611 | USH2A | c.10837C= (p.Pro3613=)
| |
1 | g.215779945G>T | CA344833914 | USH2A | c.10837C>A (p.Pro3613Thr)
| dbSNP gnomAD v4 |
1 | g.215779946G>A | CA423312978 | USH2A | c.10836C>T (p.Val3612=)
| |
1 | g.215779946G>C | CA423312979 | USH2A | c.10836C>G (p.Val3612=)
| |
1 | g.215779946G= | CA1140717723 | USH2A | c.10836C= (p.Val3612=)
| |
1 | g.215779946G>T | CA143233 | USH2A | c.10836C>A (p.Val3612=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215779947A>C | CA344833922 | USH2A | c.10835T>G (p.Val3612Gly)
| |
1 | g.215779947A>G | CA344833931 | USH2A | c.10835T>C (p.Val3612Ala)
| |
1 | g.215779947A>T | CA344833933 | USH2A | c.10835T>A (p.Val3612Asp)
| |
1 | g.215779948C>A | CA344833947 | USH2A | c.10834G>T (p.Val3612Phe)
| |
1 | g.215779948C= | CA1220414616 | USH2A | c.10834G= (p.Val3612=)
| |
1 | g.215779948C>G | CA344833944 | USH2A | c.10834G>C (p.Val3612Leu)
| |
1 | g.215779948C>T | CA1393910 | USH2A | c.10834G>A (p.Val3612Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215779949A>C | CA344833952 | USH2A | c.10833T>G (p.Ser3611Arg)
| |
1 | g.215779949A>G | CA423312980 | USH2A | c.10833T>C (p.Ser3611=)
| ClinVar dbSNP |
1 | g.215779949A>T | CA344833955 | USH2A | c.10833T>A (p.Ser3611Arg)
| gnomAD v4 |
1 | g.215779950C>A | CA344833958 | USH2A | c.10832G>T (p.Ser3611Ile)
| |
1 | g.215779950C>G | CA344833962 | USH2A | c.10832G>C (p.Ser3611Thr)
| |
1 | g.215779950C>T | CA344833965 | USH2A | c.10832G>A (p.Ser3611Asn)
| |
1 | g.215779951T>A | CA344833969 | USH2A | c.10831A>T (p.Ser3611Cys)
| |
1 | g.215779951T>C | CA344833971 | USH2A | c.10831A>G (p.Ser3611Gly)
| |
1 | g.215779951T>G | CA344833974 | USH2A | c.10831A>C (p.Ser3611Arg)
| |
1 | g.215779952C>A | CA344833979 | USH2A | c.10830G>T (p.Trp3610Cys)
| |
1 | g.215779952C>G | CA344833983 | USH2A | c.10830G>C (p.Trp3610Cys)
| |
1 | g.215779952C>T | CA344833987 | USH2A | c.10830G>A (p.Trp3610Ter)
| ClinVar |
1 | g.215779953C>A | CA344834000 | USH2A | c.10829G>T (p.Trp3610Leu)
| |
1 | g.215779953C>G | CA344834003 | USH2A | c.10829G>C (p.Trp3610Ser)
| |
1 | g.215779953C>T | CA344833996 | USH2A | c.10829G>A (p.Trp3610Ter)
| ClinVar dbSNP gnomAD v4 |
1 | g.215779954A= | CA1220414625 | USH2A | c.10828T= (p.Trp3610=)
| |
1 | g.215779954A>C | CA344834008 | USH2A | c.10828T>G (p.Trp3610Gly)
| |
1 | g.215779954A>G | CA1393911 | USH2A | c.10828T>C (p.Trp3610Arg)
| dbSNP ExAC gnomAD v4 |
1 | g.215779954A>T | CA344834014 | USH2A | c.10828T>A (p.Trp3610Arg)
| |
1 | g.215779955G>A | CA1393912 | USH2A | c.10827C>T (p.Ser3609=)
| dbSNP ExAC |
1 | g.215779955G>C | CA344834020 | USH2A | c.10827C>G (p.Ser3609Arg)
| |
1 | g.215779955G= | CA1141733210 | USH2A | c.10827C= (p.Ser3609=)
| |
1 | g.215779955G>T | CA344834025 | USH2A | c.10827C>A (p.Ser3609Arg)
| |
1 | g.215779956C>A | CA180688 | USH2A | c.10826G>T (p.Ser3609Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215779956C= | CA1148224983 | USH2A | c.10826G= (p.Ser3609=)
| |
1 | g.215779956C>G | CA37435803 | USH2A | c.10826G>C (p.Ser3609Thr)
| ClinVar dbSNP |
1 | g.215779956C>T | CA344834044 | USH2A | c.10826G>A (p.Ser3609Asn)
| |
1 | g.215779957T>A | CA344834056 | USH2A | c.10825A>T (p.Ser3609Cys)
| |
1 | g.215779957T>C | CA344834058 | USH2A | c.10825A>G (p.Ser3609Gly)
| |
1 | g.215779957T>G | CA344834063 | USH2A | c.10825A>C (p.Ser3609Arg)
| |
1 | g.215779958C>A | CA423312981 | USH2A | c.10824G>T (p.Leu3608=)
| |
1 | g.215779958C= | CA1220414646 | USH2A | c.10824G= (p.Leu3608=)
| |
1 | g.215779958C>G | CA1393913 | USH2A | c.10824G>C (p.Leu3608=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215779958C>T | CA423312982 | USH2A | c.10824G>A (p.Leu3608=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215779959A>C | CA344834074 | USH2A | c.10823T>G (p.Leu3608Arg)
| gnomAD v4 |
1 | g.215779959A>G | CA344834071 | USH2A | c.10823T>C (p.Leu3608Pro)
| |
1 | g.215779959A>T | CA344834070 | USH2A | c.10823T>A (p.Leu3608Gln)
| gnomAD v4 |
1 | g.215779960G>A | CA423312983 | USH2A | c.10822C>T (p.Leu3608=)
| |
1 | g.215779960G>C | CA344834077 | USH2A | c.10822C>G (p.Leu3608Val)
| gnomAD v4 |
1 | g.215779960G>T | CA344834079 | USH2A | c.10822C>A (p.Leu3608Met)
| |
1 | g.215779961A>C | CA344834081 | USH2A | c.10821T>G (p.His3607Gln)
| |
1 | g.215779961A>G | CA423312984 | USH2A | c.10821T>C (p.His3607=)
| |
1 | g.215779961A>T | CA344834083 | USH2A | c.10821T>A (p.His3607Gln)
| |
1 | g.215779961_215779962insG | CA2650526944 | USH2A | c.10820_10821insC (p.Leu3608SerfsTer7)
| gnomAD v4 |
1 | g.215779962T>A | CA344834086 | USH2A | c.10820A>T (p.His3607Leu)
| dbSNP |
1 | g.215779962T>C | CA344834087 | USH2A | c.10820A>G (p.His3607Arg)
| gnomAD v4 |
1 | g.215779962T>G | CA1393914 | USH2A | c.10820A>C (p.His3607Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215779962T= | CA1220414653 | USH2A | c.10820A= (p.His3607=)
| |
1 | g.215779963G>A | CA1393915 | USH2A | c.10819C>T (p.His3607Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215779963G>C | CA344834090 | USH2A | c.10819C>G (p.His3607Asp)
| |
1 | g.215779963G= | CA1220414661 | USH2A | c.10819C= (p.His3607=)
| |
1 | g.215779963G>T | CA344834091 | USH2A | c.10819C>A (p.His3607Asn)
| |
1 | g.215779963_215779971del | CA2650526945 | USH2A | c.10811_10819del (p.Val3604_His3607delinsAsp)
| gnomAD v4 |
1 | g.215779964C>A | CA423312985 | USH2A | c.10818G>T (p.Leu3606=)
| |
1 | g.215779964C= | CA1220414663 | USH2A | c.10818G= (p.Leu3606=)
| |
1 | g.215779964C>G | CA423312986 | USH2A | c.10818G>C (p.Leu3606=)
| |
1 | g.215779964C>T | CA423312987 | USH2A | c.10818G>A (p.Leu3606=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215779965A= | CA1220414666 | USH2A | c.10817T= (p.Leu3606=)
| |
1 | g.215779965A>C | CA344834092 | USH2A | c.10817T>G (p.Leu3606Arg)
| |
1 | g.215779965A>G | CA344834094 | USH2A | c.10817T>C (p.Leu3606Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215779965A>T | CA344834096 | USH2A | c.10817T>A (p.Leu3606Gln)
| |
1 | g.215779966G>A | CA423312988 | USH2A | c.10816C>T (p.Leu3606=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.215779966G>C | CA344834101 | USH2A | c.10816C>G (p.Leu3606Val)
| |
1 | g.215779966G= | CA1220414668 | USH2A | c.10816C= (p.Leu3606=)
| |
1 | g.215779966G>T | CA344834098 | USH2A | c.10816C>A (p.Leu3606Met)
| dbSNP gnomAD v2 |
1 | g.215779967A>C | CA423312989 | USH2A | c.10815T>G (p.Ala3605=)
| |
1 | g.215779967A>G | CA423312990 | USH2A | c.10815T>C (p.Ala3605=)
| |
1 | g.215779967A>T | CA423312991 | USH2A | c.10815T>A (p.Ala3605=)
| |
1 | g.215779968G>A | CA344834103 | USH2A | c.10814C>T (p.Ala3605Val)
| |
1 | g.215779968G>C | CA344834105 | USH2A | c.10814C>G (p.Ala3605Gly)
| gnomAD v4 |
1 | g.215779968G>T | CA344834104 | USH2A | c.10814C>A (p.Ala3605Asp)
| |
1 | g.215779969C>A | CA344834107 | USH2A | c.10813G>T (p.Ala3605Ser)
| |
1 | g.215779969C>G | CA344834110 | USH2A | c.10813G>C (p.Ala3605Pro)
| |
1 | g.215779969C>T | CA344834113 | USH2A | c.10813G>A (p.Ala3605Thr)
| gnomAD v4 |
1 | g.215779970C>A | CA1393916 | USH2A | c.10812G>T (p.Val3604=)
| dbSNP ExAC gnomAD v2 |
1 | g.215779970C= | CA1220414673 | USH2A | c.10812G= (p.Val3604=)
| |
1 | g.215779970C>G | CA423312992 | USH2A | c.10812G>C (p.Val3604=)
| |
1 | g.215779970C>T | CA423312993 | USH2A | c.10812G>A (p.Val3604=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.215779971A>C | CA344834116 | USH2A | c.10811T>G (p.Val3604Gly)
| ClinVar dbSNP |
1 | g.215779971A>G | CA344834117 | USH2A | c.10811T>C (p.Val3604Ala)
| |
1 | g.215779971A>T | CA344834118 | USH2A | c.10811T>A (p.Val3604Glu)
| |
1 | g.215779972C>A | CA344834120 | USH2A | c.10810G>T (p.Val3604Leu)
| ClinVar |
1 | g.215779972C>G | CA344834123 | USH2A | c.10810G>C (p.Val3604Leu)
| |
1 | g.215779972C>T | CA344834124 | USH2A | c.10810G>A (p.Val3604Met)
| |
1 | g.215779973T>A | CA423312996 | USH2A | c.10809A>T (p.Ala3603=)
| |
1 | g.215779973T>C | CA423312995 | USH2A | c.10809A>G (p.Ala3603=)
| |
1 | g.215779973T>G | CA423312994 | USH2A | c.10809A>C (p.Ala3603=)
| gnomAD v4 |
1 | g.215779974G>A | CA1393917 | USH2A | c.10808C>T (p.Ala3603Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215779974G>C | CA344834125 | USH2A | c.10808C>G (p.Ala3603Gly)
| |
1 | g.215779974G= | CA1220414676 | USH2A | c.10808C= (p.Ala3603=)
| |
1 | g.215779974G>T | CA344834126 | USH2A | c.10808C>A (p.Ala3603Glu)
| gnomAD v4 |
1 | g.215779975C>A | CA344834128 | USH2A | c.10807G>T (p.Ala3603Ser)
| gnomAD v4 |
1 | g.215779975C= | CA1145174750 | USH2A | c.10807G= (p.Ala3603=)
| |
1 | g.215779975C>G | CA344834134 | USH2A | c.10807G>C (p.Ala3603Pro)
| |
1 | g.215779975C>T | CA1393918 | USH2A | c.10807G>A (p.Ala3603Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215779976A= | CA1220414684 | USH2A | c.10806T= (p.Ser3602=)
| |
1 | g.215779976A>C | CA344834137 | USH2A | c.10806T>G (p.Ser3602Arg)
| dbSNP gnomAD v2 |
1 | g.215779976A>G | CA423312997 | USH2A | c.10806T>C (p.Ser3602=)
| |
1 | g.215779976A>T | CA344834141 | USH2A | c.10806T>A (p.Ser3602Arg)
| |
1 | g.215779977C>A | CA344834145 | USH2A | c.10805G>T (p.Ser3602Ile)
| |
1 | g.215779977C>G | CA344834148 | USH2A | c.10805G>C (p.Ser3602Thr)
| |
1 | g.215779977C>T | CA344834151 | USH2A | c.10805G>A (p.Ser3602Asn)
| gnomAD v4 |
1 | g.215779978T>A | CA344834155 | USH2A | c.10804A>T (p.Ser3602Cys)
| |
1 | g.215779978T>C | CA344834156 | USH2A | c.10804A>G (p.Ser3602Gly)
| |
1 | g.215779978T>G | CA344834157 | USH2A | c.10804A>C (p.Ser3602Arg)
| |
1 | g.215779979T>A | CA423312998 | USH2A | c.10803A>T (p.Leu3601=)
| |
1 | g.215779979T>C | CA423313000 | USH2A | c.10803A>G (p.Leu3601=)
| |
1 | g.215779979T>G | CA423312999 | USH2A | c.10803A>C (p.Leu3601=)
| |
1 | g.215779980A>C | CA344834158 | USH2A | c.10802T>G (p.Leu3601Arg)
| |
1 | g.215779980A>G | CA344834160 | USH2A | c.10802T>C (p.Leu3601Pro)
| |
1 | g.215779980A>T | CA344834163 | USH2A | c.10802T>A (p.Leu3601Gln)
| |
1 | g.215779981G>A | CA423313001 | USH2A | c.10801C>T (p.Leu3601=)
| |
1 | g.215779981G>C | CA344834165 | USH2A | c.10801C>G (p.Leu3601Val)
| dbSNP |
1 | g.215779981G= | CA1220414688 | USH2A | c.10801C= (p.Leu3601=)
| |
1 | g.215779981G>T | CA344834164 | USH2A | c.10801C>A (p.Leu3601Ile)
| |
1 | g.215779982G>A | CA423313002 | USH2A | c.10800C>T (p.Ala3600=)
| gnomAD v4 |
1 | g.215779982G>C | CA423313003 | USH2A | c.10800C>G (p.Ala3600=)
| ClinVar dbSNP |
1 | g.215779982G= | CA1220414694 | USH2A | c.10800C= (p.Ala3600=)
| |
1 | g.215779982G>T | CA423313004 | USH2A | c.10800C>A (p.Ala3600=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215779983G>A | CA344834167 | USH2A | c.10799C>T (p.Ala3600Val)
| gnomAD v4 |
1 | g.215779983G>C | CA344834170 | USH2A | c.10799C>G (p.Ala3600Gly)
| |
1 | g.215779983G>T | CA344834178 | USH2A | c.10799C>A (p.Ala3600Asp)
| gnomAD v4 |
1 | g.215779984C>A | CA344834182 | USH2A | c.10798G>T (p.Ala3600Ser)
| |
1 | g.215779984C>G | CA344834184 | USH2A | c.10798G>C (p.Ala3600Pro)
| |
1 | g.215779984C>T | CA344834187 | USH2A | c.10798G>A (p.Ala3600Thr)
| |
1 | g.215779985T>A | CA423313005 | USH2A | c.10797A>T (p.Thr3599=)
| |
1 | g.215779985T>C | CA423313006 | USH2A | c.10797A>G (p.Thr3599=)
| |
1 | g.215779985T>G | CA423313007 | USH2A | c.10797A>C (p.Thr3599=)
| |
1 | g.215779986G>A | CA344834191 | USH2A | c.10796C>T (p.Thr3599Ile)
| gnomAD v4 |
1 | g.215779986G>C | CA344834198 | USH2A | c.10796C>G (p.Thr3599Arg)
| dbSNP |
1 | g.215779986G= | CA1220414696 | USH2A | c.10796C= (p.Thr3599=)
| |
1 | g.215779986G>T | CA344834200 | USH2A | c.10796C>A (p.Thr3599Lys)
| |
1 | g.215779987T>A | CA1393919 | USH2A | c.10795A>T (p.Thr3599Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215779987T>C | CA344834209 | USH2A | c.10795A>G (p.Thr3599Ala)
| |
1 | g.215779987T>G | CA344834212 | USH2A | c.10795A>C (p.Thr3599Pro)
| |
1 | g.215779987T= | CA1220414700 | USH2A | c.10795A= (p.Thr3599=)
| |
1 | g.215779988G>A | CA423313008 | USH2A | c.10794C>T (p.Ile3598=)
| |
1 | g.215779988G>C | CA344834215 | USH2A | c.10794C>G (p.Ile3598Met)
| |
1 | g.215779988G>T | CA423313009 | USH2A | c.10794C>A (p.Ile3598=)
| ClinVar dbSNP |
1 | g.215779989A>C | CA344834223 | USH2A | c.10793T>G (p.Ile3598Ser)
| |
1 | g.215779989A>G | CA344834221 | USH2A | c.10793T>C (p.Ile3598Thr)
| |
1 | g.215779989A>T | CA344834218 | USH2A | c.10793T>A (p.Ile3598Asn)
| |
1 | g.215779990T>A | CA344834226 | USH2A | c.10792A>T (p.Ile3598Phe)
| gnomAD v4 |
1 | g.215779990T>C | CA37435856 | USH2A | c.10792A>G (p.Ile3598Val)
| dbSNP gnomAD v4 |
1 | g.215779990T>G | CA344834244 | USH2A | c.10792A>C (p.Ile3598Leu)
| ClinVar dbSNP gnomAD v4 |
1 | g.215779990T= | CA1220414703 | USH2A | c.10792A= (p.Ile3598=)
| |
1 | g.215779991G>A | CA423313010 | USH2A | c.10791C>T (p.Ser3597=)
| |
1 | g.215779991G>C | CA344834249 | USH2A | c.10791C>G (p.Ser3597Arg)
| |
1 | g.215779991G>T | CA344834254 | USH2A | c.10791C>A (p.Ser3597Arg)
| |
1 | g.215779992C>A | CA344834265 | USH2A | c.10790G>T (p.Ser3597Ile)
| |
1 | g.215779992C>G | CA344834269 | USH2A | c.10790G>C (p.Ser3597Thr)
| |
1 | g.215779992C>T | CA344834273 | USH2A | c.10790G>A (p.Ser3597Asn)
| gnomAD v4 |
1 | g.215779993T>A | CA344834275 | USH2A | c.10789A>T (p.Ser3597Cys)
| |
1 | g.215779993T>C | CA344834279 | USH2A | c.10789A>G (p.Ser3597Gly)
| |
1 | g.215779993T>G | CA344834282 | USH2A | c.10789A>C (p.Ser3597Arg)
| |
1 | g.215779994T>A | CA423313011 | USH2A | c.10788A>T (p.Pro3596=)
| |
1 | g.215779994T>C | CA423313012 | USH2A | c.10788A>G (p.Pro3596=)
| |
1 | g.215779994T>G | CA423313013 | USH2A | c.10788A>C (p.Pro3596=)
| gnomAD v4 |
1 | g.215779995G>A | CA1393920 | USH2A | c.10787C>T (p.Pro3596Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215779995G>C | CA344834284 | USH2A | c.10787C>G (p.Pro3596Arg)
| |
1 | g.215779995G= | CA1143636213 | USH2A | c.10787C= (p.Pro3596=)
| |
1 | g.215779995G>T | CA344834285 | USH2A | c.10787C>A (p.Pro3596Gln)
| |
1 | g.215779996G>A | CA344834293 | USH2A | c.10786C>T (p.Pro3596Ser)
| gnomAD v4 |
1 | g.215779996G>C | CA344834298 | USH2A | c.10786C>G (p.Pro3596Ala)
| |
1 | g.215779996G>T | CA344834289 | USH2A | c.10786C>A (p.Pro3596Thr)
| |
1 | g.215779997del | CA2574132987 | USH2A | c.10785del (p.Pro3596GlnfsTer6)
| |
1 | g.215779997T>A | CA423313014 | USH2A | c.10785A>T (p.Pro3595=)
| |
1 | g.215779997T>C | CA423313015 | USH2A | c.10785A>G (p.Pro3595=)
| ClinVar dbSNP |
1 | g.215779997T>G | CA423313016 | USH2A | c.10785A>C (p.Pro3595=)
| |
1 | g.215779997T= | CA1220414710 | USH2A | c.10785A= (p.Pro3595=)
| |
1 | g.215779998G>A | CA344834303 | USH2A | c.10784C>T (p.Pro3595Leu)
| |
1 | g.215779998G>C | CA344834306 | USH2A | c.10784C>G (p.Pro3595Arg)
| |
1 | g.215779998G>T | CA344834304 | USH2A | c.10784C>A (p.Pro3595Gln)
| |
1 | g.215779999G>A | CA344834310 | USH2A | c.10783C>T (p.Pro3595Ser)
| |
1 | g.215779999G>C | CA344834315 | USH2A | c.10783C>G (p.Pro3595Ala)
| |
1 | g.215779999G>T | CA344834312 | USH2A | c.10783C>A (p.Pro3595Thr)
| |
1 | g.215780000C>A | CA423313018 | USH2A | c.10782G>T (p.Leu3594=)
| |
1 | g.215780000C= | CA1220414714 | USH2A | c.10782G= (p.Leu3594=)
| |
1 | g.215780000C>G | CA423313019 | USH2A | c.10782G>C (p.Leu3594=)
| |
1 | g.215780000C>T | CA1393921 | USH2A | c.10782G>A (p.Leu3594=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215780001A>C | CA344834326 | USH2A | c.10781T>G (p.Leu3594Arg)
| |
1 | g.215780001A>G | CA344834335 | USH2A | c.10781T>C (p.Leu3594Pro)
| |
1 | g.215780001A>T | CA344834338 | USH2A | c.10781T>A (p.Leu3594Gln)
| |
1 | g.215780002G>A | CA423313020 | USH2A | c.10780C>T (p.Leu3594=)
| |
1 | g.215780002G>C | CA344834341 | USH2A | c.10780C>G (p.Leu3594Val)
| |
1 | g.215780002G>T | CA344834344 | USH2A | c.10780C>A (p.Leu3594Met)
| |
1 | g.215780003G>A | CA423313022 | USH2A | c.10779C>T (p.Ile3593=)
| |
1 | g.215780003G>C | CA37435874 | USH2A | c.10779C>G (p.Ile3593Met)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215780003G= | CA1220414718 | USH2A | c.10779C= (p.Ile3593=)
| |
1 | g.215780003G>T | CA1393922 | USH2A | c.10779C>A (p.Ile3593=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215780004A= | CA1220414724 | USH2A | c.10778T= (p.Ile3593=)
| |
1 | g.215780004A>C | CA344834347 | USH2A | c.10778T>G (p.Ile3593Ser)
| |
1 | g.215780004A>G | CA344834350 | USH2A | c.10778T>C (p.Ile3593Thr)
| |
1 | g.215780004A>T | CA344834352 | USH2A | c.10778T>A (p.Ile3593Asn)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215780005T>A | CA344834357 | USH2A | c.10777A>T (p.Ile3593Phe)
| |
1 | g.215780005T>C | CA1393923 | USH2A | c.10777A>G (p.Ile3593Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215780005T>G | CA344834355 | USH2A | c.10777A>C (p.Ile3593Leu)
| |
1 | g.215780005T= | CA1148301386 | USH2A | c.10777A= (p.Ile3593=)
| |
1 | g.215780006G>A | CA423313023 | USH2A | c.10776C>T (p.Ser3592=)
| ClinVar |
1 | g.215780006G>C | CA344834359 | USH2A | c.10776C>G (p.Ser3592Arg)
| |
1 | g.215780006G>T | CA344834361 | USH2A | c.10776C>A (p.Ser3592Arg)
| |
1 | g.215780007C>A | CA344834363 | USH2A | c.10775G>T (p.Ser3592Ile)
| |
1 | g.215780007C>G | CA344834364 | USH2A | c.10775G>C (p.Ser3592Thr)
| |
1 | g.215780007C>T | CA344834365 | USH2A | c.10775G>A (p.Ser3592Asn)
| |
1 | g.215780008T>A | CA344834367 | USH2A | c.10774A>T (p.Ser3592Cys)
| dbSNP |
1 | g.215780008T>C | CA344834369 | USH2A | c.10774A>G (p.Ser3592Gly)
| |
1 | g.215780008T>G | CA344834370 | USH2A | c.10774A>C (p.Ser3592Arg)
| |
1 | g.215780008T= | CA1220414730 | USH2A | c.10774A= (p.Ser3592=)
| |
1 | g.215780009del | CA2831038776 | USH2A | c.10773del (p.Ser3592AlafsTer10)
| |
1 | g.215780009C>A | CA344834372 | USH2A | c.10773G>T (p.Glu3591Asp)
| |
1 | g.215780009C>G | CA344834375 | USH2A | c.10773G>C (p.Glu3591Asp)
| gnomAD v4 COSMIC COSMIC |
1 | g.215780009C>T | CA423313024 | USH2A | c.10773G>A (p.Glu3591=)
| ClinVar dbSNP gnomAD v4 |
1 | g.215780010T>A | CA344834382 | USH2A | c.10772A>T (p.Glu3591Val)
| |
1 | g.215780010T>C | CA344834379 | USH2A | c.10772A>G (p.Glu3591Gly)
| |
1 | g.215780010T>G | CA344834378 | USH2A | c.10772A>C (p.Glu3591Ala)
| |
1 | g.215780011C>A | CA344834385 | USH2A | c.10771G>T (p.Glu3591Ter)
| |
1 | g.215780011C>G | CA344834386 | USH2A | c.10771G>C (p.Glu3591Gln)
| |
1 | g.215780011C>T | CA344834387 | USH2A | c.10771G>A (p.Glu3591Lys)
| gnomAD v4 |
1 | g.215780012C>A | CA423313025 | USH2A | c.10770G>T (p.Pro3590=)
| |
1 | g.215780012C= | CA1143811137 | USH2A | c.10770G= (p.Pro3590=)
| |
1 | g.215780012C>G | CA423313026 | USH2A | c.10770G>C (p.Pro3590=)
| |
1 | g.215780012C>T | CA1393924 | USH2A | c.10770G>A (p.Pro3590=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215780013G>A | CA143231 | USH2A | c.10769C>T (p.Pro3590Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215780013G>C | CA344834390 | USH2A | c.10769C>G (p.Pro3590Arg)
| |
1 | g.215780013G= | CA1141464559 | USH2A | c.10769C= (p.Pro3590=)
| |
1 | g.215780013G>T | CA344834391 | USH2A | c.10769C>A (p.Pro3590Gln)
| |
1 | g.215780014G>A | CA344834393 | USH2A | c.10768C>T (p.Pro3590Ser)
| |
1 | g.215780014G>C | CA344834399 | USH2A | c.10768C>G (p.Pro3590Ala)
| |
1 | g.215780014G= | CA1220414743 | USH2A | c.10768C= (p.Pro3590=)
| |
1 | g.215780014G>T | CA344834401 | USH2A | c.10768C>A (p.Pro3590Thr)
| dbSNP |
1 | g.215780015A>C | CA423313027 | USH2A | c.10767T>G (p.Val3589=)
| |
1 | g.215780015A>G | CA423313028 | USH2A | c.10767T>C (p.Val3589=)
| |
1 | g.215780015A>T | CA423313029 | USH2A | c.10767T>A (p.Val3589=)
| |
1 | g.215780016A>C | CA344834403 | USH2A | c.10766T>G (p.Val3589Gly)
| |
1 | g.215780016A>G | CA344834404 | USH2A | c.10766T>C (p.Val3589Ala)
| |
1 | g.215780016A>T | CA344834405 | USH2A | c.10766T>A (p.Val3589Asp)
| |
1 | g.215780017C>A | CA1393925 | USH2A | c.10765G>T (p.Val3589Phe)
| dbSNP ExAC gnomAD v2 |
1 | g.215780017C= | CA1144082069 | USH2A | c.10765G= (p.Val3589=)
| |
1 | g.215780017C>G | CA344834407 | USH2A | c.10765G>C (p.Val3589Leu)
| dbSNP |
1 | g.215780017C>T | CA344834406 | USH2A | c.10765G>A (p.Val3589Ile)
| |
1 | g.215780018T>A | CA423313030 | USH2A | c.10764A>T (p.Gly3588=)
| |
1 | g.215780018T>C | CA423313031 | USH2A | c.10764A>G (p.Gly3588=)
| |
1 | g.215780018T>G | CA423313032 | USH2A | c.10764A>C (p.Gly3588=)
| |
1 | g.215780019C>A | CA344834410 | USH2A | c.10763G>T (p.Gly3588Val)
| |
1 | g.215780019C= | CA1147291383 | USH2A | c.10763G= (p.Gly3588=)
| |
1 | g.215780019C>G | CA1393926 | USH2A | c.10763G>C (p.Gly3588Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215780019C>T | CA344834411 | USH2A | c.10763G>A (p.Gly3588Glu)
| |
1 | g.215780020C>A | CA344834412 | USH2A | c.10762G>T (p.Gly3588Ter)
| |
1 | g.215780020C>G | CA344834413 | USH2A | c.10762G>C (p.Gly3588Arg)
| |
1 | g.215780020C>T | CA344834416 | USH2A | c.10762G>A (p.Gly3588Arg)
| |
1 | g.215780021T>A | CA344834419 | USH2A | c.10761A>T (p.Gln3587His)
| |
1 | g.215780021T>C | CA423313033 | USH2A | c.10761A>G (p.Gln3587=)
| |
1 | g.215780021T>G | CA344834423 | USH2A | c.10761A>C (p.Gln3587His)
| |
1 | g.215780022T>A | CA344834425 | USH2A | c.10760A>T (p.Gln3587Leu)
| COSMIC COSMIC |
1 | g.215780022T>C | CA344834430 | USH2A | c.10760A>G (p.Gln3587Arg)
| COSMIC COSMIC |
1 | g.215780022T>G | CA344834433 | USH2A | c.10760A>C (p.Gln3587Pro)
| |
1 | g.215780023G>A | CA262064 | USH2A | c.10759C>T (p.Gln3587Ter)
| ClinVar dbSNP gnomAD v4 |
1 | g.215780023G>C | CA344834440 | USH2A | c.10759C>G (p.Gln3587Glu)
| |
1 | g.215780023G= | CA1141189273 | USH2A | c.10759C= (p.Gln3587=)
| |
1 | g.215780023G>T | CA344834435 | USH2A | c.10759C>A (p.Gln3587Lys)
| COSMIC COSMIC |
1 | g.215780024G>A | CA423313035 | USH2A | c.10758C>T (p.Thr3586=)
| |
1 | g.215780024G>C | CA423313034 | USH2A | c.10758C>G (p.Thr3586=)
| |
1 | g.215780024G= | CA1220414757 | USH2A | c.10758C= (p.Thr3586=)
| |
1 | g.215780024G>T | CA37435902 | USH2A | c.10758C>A (p.Thr3586=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215780025G>A | CA344834448 | USH2A | c.10757C>T (p.Thr3586Ile)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215780025G>C | CA344834449 | USH2A | c.10757C>G (p.Thr3586Ser)
| |
1 | g.215780025G= | CA1220414762 | USH2A | c.10757C= (p.Thr3586=)
| |
1 | g.215780025G>T | CA344834450 | USH2A | c.10757C>A (p.Thr3586Asn)
| gnomAD v4 |
1 | g.215780026T>A | CA1393927 | USH2A | c.10756A>T (p.Thr3586Ser)
| ClinVar dbSNP ExAC |
1 | g.215780026T>C | CA1393928 | USH2A | c.10756A>G (p.Thr3586Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.215780026T>G | CA344834451 | USH2A | c.10756A>C (p.Thr3586Pro)
| |
1 | g.215780026T= | CA1220414766 | USH2A | c.10756A= (p.Thr3586=)
| |
1 | g.215780027A>C | CA423313036 | USH2A | c.10755T>G (p.Thr3585=)
| |
1 | g.215780027A>G | CA423313038 | USH2A | c.10755T>C (p.Thr3585=)
| |
1 | g.215780027A>T | CA423313037 | USH2A | c.10755T>A (p.Thr3585=)
| |
1 | g.215780028G>A | CA344834452 | USH2A | c.10754C>T (p.Thr3585Ile)
| ClinVar dbSNP gnomAD v4 |
1 | g.215780028G>C | CA344834453 | USH2A | c.10754C>G (p.Thr3585Ser)
| |
1 | g.215780028G>T | CA344834454 | USH2A | c.10754C>A (p.Thr3585Asn)
| |
1 | g.215780029T>A | CA344834455 | USH2A | c.10753A>T (p.Thr3585Ser)
| |
1 | g.215780029T>C | CA344834456 | USH2A | c.10753A>G (p.Thr3585Ala)
| COSMIC COSMIC |
1 | g.215780029T>G | CA344834457 | USH2A | c.10753A>C (p.Thr3585Pro)
| |
1 | g.215780030A= | CA1220414769 | USH2A | c.10752T= (p.Ala3584=)
| |
1 | g.215780030A>C | CA423313039 | USH2A | c.10752T>G (p.Ala3584=)
| |
1 | g.215780030A>G | CA423313040 | USH2A | c.10752T>C (p.Ala3584=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215780030A>T | CA423313041 | USH2A | c.10752T>A (p.Ala3584=)
| |
1 | g.215780031G>A | CA344834459 | USH2A | c.10751C>T (p.Ala3584Val)
| COSMIC COSMIC |
1 | g.215780031G>C | CA344834460 | USH2A | c.10751C>G (p.Ala3584Gly)
| |
1 | g.215780031G>T | CA344834458 | USH2A | c.10751C>A (p.Ala3584Asp)
| |
1 | g.215780032C>A | CA344834461 | USH2A | c.10750G>T (p.Ala3584Ser)
| gnomAD v4 |
1 | g.215780032C= | CA1220414771 | USH2A | c.10750G= (p.Ala3584=)
| |
1 | g.215780032C>G | CA344834462 | USH2A | c.10750G>C (p.Ala3584Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215780032C>T | CA344834463 | USH2A | c.10750G>A (p.Ala3584Thr)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215780033T>A | CA37435917 | USH2A | c.10749A>T (p.Ala3583=)
| dbSNP gnomAD v4 |
1 | g.215780033T>C | CA423313042 | USH2A | c.10749A>G (p.Ala3583=)
| |
1 | g.215780033T>G | CA423313043 | USH2A | c.10749A>C (p.Ala3583=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215780033T= | CA1148566020 | USH2A | c.10749A= (p.Ala3583=)
| |
1 | g.215780034G>A | CA344834466 | USH2A | c.10748C>T (p.Ala3583Val)
| ClinVar dbSNP gnomAD v4 |
1 | g.215780034G>C | CA344834465 | USH2A | c.10748C>G (p.Ala3583Gly)
| |
1 | g.215780034G= | CA1220414781 | USH2A | c.10748C= (p.Ala3583=)
| |
1 | g.215780034G>T | CA344834464 | USH2A | c.10748C>A (p.Ala3583Glu)
| |
1 | g.215780035C>A | CA344834467 | USH2A | c.10747G>T (p.Ala3583Ser)
| |
1 | g.215780035C>G | CA344834468 | USH2A | c.10747G>C (p.Ala3583Pro)
| |
1 | g.215780035C>T | CA344834469 | USH2A | c.10747G>A (p.Ala3583Thr)
| |
1 | g.215780036A>C | CA423313044 | USH2A | c.10746T>G (p.Val3582=)
| |
1 | g.215780036A>G | CA423313045 | USH2A | c.10746T>C (p.Val3582=)
| |
1 | g.215780036A>T | CA423313046 | USH2A | c.10746T>A (p.Val3582=)
| ClinVar dbSNP |
1 | g.215780037A>C | CA344834470 | USH2A | c.10745T>G (p.Val3582Gly)
| |
1 | g.215780037A>G | CA344834471 | USH2A | c.10745T>C (p.Val3582Ala)
| gnomAD v4 |
1 | g.215780037A>T | CA344834472 | USH2A | c.10745T>A (p.Val3582Asp)
| |
1 | g.215780038C>A | CA344834475 | USH2A | c.10744G>T (p.Val3582Phe)
| |
1 | g.215780038C= | CA1220414785 | USH2A | c.10744G= (p.Val3582=)
| |
1 | g.215780038C>G | CA344834474 | USH2A | c.10744G>C (p.Val3582Leu)
| |
1 | g.215780038C>T | CA344834473 | USH2A | c.10744G>A (p.Val3582Ile)
| dbSNP |
1 | g.215780039T>A | CA423313047 | USH2A | c.10743A>T (p.Val3581=)
| |
1 | g.215780039T>C | CA423313048 | USH2A | c.10743A>G (p.Val3581=)
| |
1 | g.215780039T>G | CA423313049 | USH2A | c.10743A>C (p.Val3581=)
| |
1 | g.215780040A= | CA1220414790 | USH2A | c.10742T= (p.Val3581=)
| |
1 | g.215780040A>C | CA344834476 | USH2A | c.10742T>G (p.Val3581Gly)
| |
1 | g.215780040A>G | CA344834477 | USH2A | c.10742T>C (p.Val3581Ala)
| ClinVar dbSNP gnomAD v4 |
1 | g.215780040A>T | CA344834478 | USH2A | c.10742T>A (p.Val3581Glu)
| |
1 | g.215780040_215780041delinsAC | CA1220414788 | USH2A | c.10741_10742delinsGT (p.Val3581=)
| |
1 | g.215780041C>A | CA344834479 | USH2A | c.10741G>T (p.Val3581Leu)
| |
1 | g.215780041C>G | CA344834480 | USH2A | c.10741G>C (p.Val3581Leu)
| |
1 | g.215780041C>T | CA344834481 | USH2A | c.10741G>A (p.Val3581Ile)
| gnomAD v4 |
1 | g.215780042del | CA1393929 | USH2A | c.10741del
| dbSNP ExAC |
1 | g.215780042C>A | CA16617054 | USH2A | c.10741-1G>T (n.10741-1G>T)
| ClinVar dbSNP gnomAD v4 |
1 | g.215780042C= | CA1220414797 | USH2A | c.10741-1G= (n.10741-1G=)
| |
1 | g.215780042C>G | CA344834482 | USH2A | c.10741-1G>C (n.10741-1G>C)
| |
1 | g.215780042C>T | CA344834483 | USH2A | c.10741-1G>A (n.10741-1G>A)
| gnomAD v4 |
1 | g.215780043T>A | CA344834484 | USH2A | c.10741-2A>T (n.10741-2A>T)
| |
1 | g.215780043T>C | CA344834485 | USH2A | c.10741-2A>G (n.10741-2A>G)
| gnomAD v4 |
1 | g.215780043T>G | CA344834486 | USH2A | c.10741-2A>C (n.10741-2A>C)
| |