Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.77179075del | CA2792784175 | MYO7A | c.2313del (p.Thr772HisfsTer2) c.378del (p.Thr127HisfsTer2) c.154del c.2280del (p.Thr761HisfsTer2) c.2082del (p.Thr695HisfsTer2) c.2055del (p.Thr686HisfsTer2) n.2633del n.2635del c.2403del (p.Thr802HisfsTer2) c.2172del (p.Thr725HisfsTer2) n.2418del | |
11 | g.77179075C>A | CA475794873 | MYO7A | c.2313C>A (p.Ala771=) c.378C>A (p.Ala126=) c.154C>A c.2280C>A (p.Ala760=) c.2082C>A (p.Ala694=) c.2055C>A (p.Ala685=) n.2633C>A n.2635C>A c.2403C>A (p.Ala801=) c.2172C>A (p.Ala724=) n.2418C>A | gnomAD v4 |
11 | g.77179075C= | CA1984120949 | MYO7A | c.2313C= (p.Ala771=) c.378C= (p.Ala126=) c.154C= c.2280C= (p.Ala760=) c.2082C= (p.Ala694=) c.2055C= (p.Ala685=) n.2633C= n.2635C= c.2403C= (p.Ala801=) c.2172C= (p.Ala724=) n.2418C= | |
11 | g.77179075C>G | CA475794874 | MYO7A | c.2313C>G (p.Ala771=) c.378C>G (p.Ala126=) c.154C>G c.2280C>G (p.Ala760=) c.2082C>G (p.Ala694=) c.2055C>G (p.Ala685=) n.2633C>G n.2635C>G c.2403C>G (p.Ala801=) c.2172C>G (p.Ala724=) n.2418C>G | |
11 | g.77179075C>T | CA475794875 | MYO7A | c.2313C>T (p.Ala771=) c.378C>T (p.Ala126=) c.154C>T c.2280C>T (p.Ala760=) c.2082C>T (p.Ala694=) c.2055C>T (p.Ala685=) n.2633C>T n.2635C>T c.2403C>T (p.Ala801=) c.2172C>T (p.Ala724=) n.2418C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.77179076A>C | CA381940889 | MYO7A | c.2314A>C (p.Thr772Pro) c.379A>C (p.Thr127Pro) c.155A>C c.2281A>C (p.Thr761Pro) c.2083A>C (p.Thr695Pro) c.2056A>C (p.Thr686Pro) n.2634A>C n.2636A>C c.2404A>C (p.Thr802Pro) c.2173A>C (p.Thr725Pro) n.2419A>C | |
11 | g.77179076A>G | CA381940890 | MYO7A | c.2314A>G (p.Thr772Ala) c.379A>G (p.Thr127Ala) c.155A>G c.2281A>G (p.Thr761Ala) c.2083A>G (p.Thr695Ala) c.2056A>G (p.Thr686Ala) n.2634A>G n.2636A>G c.2404A>G (p.Thr802Ala) c.2173A>G (p.Thr725Ala) n.2419A>G | ClinVar gnomAD v4 |
11 | g.77179076A>T | CA381940891 | MYO7A | c.2314A>T (p.Thr772Ser) c.379A>T (p.Thr127Ser) c.155A>T c.2281A>T (p.Thr761Ser) c.2083A>T (p.Thr695Ser) c.2056A>T (p.Thr686Ser) n.2634A>T n.2636A>T c.2404A>T (p.Thr802Ser) c.2173A>T (p.Thr725Ser) n.2419A>T | |
11 | g.77179077C>A | CA381940892 | MYO7A | c.2315C>A (p.Thr772Lys) c.380C>A (p.Thr127Lys) c.156C>A c.2282C>A (p.Thr761Lys) c.2084C>A (p.Thr695Lys) c.2057C>A (p.Thr686Lys) n.2635C>A n.2637C>A c.2405C>A (p.Thr802Lys) c.2174C>A (p.Thr725Lys) n.2420C>A | |
11 | g.77179077C= | CA1984120957 | MYO7A | c.2315C= (p.Thr772=) c.380C= (p.Thr127=) c.156C= c.2282C= (p.Thr761=) c.2084C= (p.Thr695=) c.2057C= (p.Thr686=) n.2635C= n.2637C= c.2405C= (p.Thr802=) c.2174C= (p.Thr725=) n.2420C= | |
11 | g.77179077C>G | CA381940894 | MYO7A | c.2315C>G (p.Thr772Arg) c.380C>G (p.Thr127Arg) c.156C>G c.2282C>G (p.Thr761Arg) c.2084C>G (p.Thr695Arg) c.2057C>G (p.Thr686Arg) n.2635C>G n.2637C>G c.2405C>G (p.Thr802Arg) c.2174C>G (p.Thr725Arg) n.2420C>G | |
11 | g.77179077C>T | CA381940896 | MYO7A | c.2315C>T (p.Thr772Ile) c.380C>T (p.Thr127Ile) c.156C>T c.2282C>T (p.Thr761Ile) c.2084C>T (p.Thr695Ile) c.2057C>T (p.Thr686Ile) n.2635C>T n.2637C>T c.2405C>T (p.Thr802Ile) c.2174C>T (p.Thr725Ile) n.2420C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.77179078A= | CA1984120967 | MYO7A | c.2316A= (p.Thr772=) c.381A= (p.Thr127=) c.157A= c.2283A= (p.Thr761=) c.2085A= (p.Thr695=) c.2058A= (p.Thr686=) n.2636A= n.2638A= c.2406A= (p.Thr802=) c.2175A= (p.Thr725=) n.2421A= | |
11 | g.77179078A>C | CA475794876 | MYO7A | c.2316A>C (p.Thr772=) c.381A>C (p.Thr127=) c.157A>C c.2283A>C (p.Thr761=) c.2085A>C (p.Thr695=) c.2058A>C (p.Thr686=) n.2636A>C n.2638A>C c.2406A>C (p.Thr802=) c.2175A>C (p.Thr725=) n.2421A>C | |
11 | g.77179078A>G | CA6197806 | MYO7A | c.2316A>G (p.Thr772=) c.381A>G (p.Thr127=) c.157A>G c.2283A>G (p.Thr761=) c.2085A>G (p.Thr695=) c.2058A>G (p.Thr686=) n.2636A>G n.2638A>G c.2406A>G (p.Thr802=) c.2175A>G (p.Thr725=) n.2421A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77179078A>T | CA475794878 | MYO7A | c.2316A>T (p.Thr772=) c.381A>T (p.Thr127=) c.157A>T c.2283A>T (p.Thr761=) c.2085A>T (p.Thr695=) c.2058A>T (p.Thr686=) n.2636A>T n.2638A>T c.2406A>T (p.Thr802=) c.2175A>T (p.Thr725=) n.2421A>T | |
11 | g.77179079C>A | CA381940899 | MYO7A | c.2317C>A (p.Leu773Met) c.382C>A (p.Leu128Met) c.158C>A c.2284C>A (p.Leu762Met) c.2086C>A (p.Leu696Met) c.2059C>A (p.Leu687Met) n.2637C>A n.2639C>A c.2407C>A (p.Leu803Met) c.2176C>A (p.Leu726Met) n.2422C>A | |
11 | g.77179079C= | CA1984120970 | MYO7A | c.2317C= (p.Leu773=) c.382C= (p.Leu128=) c.158C= c.2284C= (p.Leu762=) c.2086C= (p.Leu696=) c.2059C= (p.Leu687=) n.2637C= n.2639C= c.2407C= (p.Leu803=) c.2176C= (p.Leu726=) n.2422C= | |
11 | g.77179079C>G | CA381940900 | MYO7A | c.2317C>G (p.Leu773Val) c.382C>G (p.Leu128Val) c.158C>G c.2284C>G (p.Leu762Val) c.2086C>G (p.Leu696Val) c.2059C>G (p.Leu687Val) n.2637C>G n.2639C>G c.2407C>G (p.Leu803Val) c.2176C>G (p.Leu726Val) n.2422C>G | |
11 | g.77179079C>T | CA475794879 | MYO7A | c.2317C>T (p.Leu773=) c.382C>T (p.Leu128=) c.158C>T c.2284C>T (p.Leu762=) c.2086C>T (p.Leu696=) c.2059C>T (p.Leu687=) n.2637C>T n.2639C>T c.2407C>T (p.Leu803=) c.2176C>T (p.Leu726=) n.2422C>T | ClinVar dbSNP gnomAD v4 |
11 | g.77179080T>A | CA381940902 | MYO7A | c.2318T>A (p.Leu773Gln) c.383T>A (p.Leu128Gln) c.159T>A c.2285T>A (p.Leu762Gln) c.2087T>A (p.Leu696Gln) c.2060T>A (p.Leu687Gln) n.2638T>A n.2640T>A c.2408T>A (p.Leu803Gln) c.2177T>A (p.Leu726Gln) n.2423T>A | |
11 | g.77179080T>C | CA381940905 | MYO7A | c.2318T>C (p.Leu773Pro) c.383T>C (p.Leu128Pro) c.159T>C c.2285T>C (p.Leu762Pro) c.2087T>C (p.Leu696Pro) c.2060T>C (p.Leu687Pro) n.2638T>C n.2640T>C c.2408T>C (p.Leu803Pro) c.2177T>C (p.Leu726Pro) n.2423T>C | |
11 | g.77179080T>G | CA381940904 | MYO7A | c.2318T>G (p.Leu773Arg) c.383T>G (p.Leu128Arg) c.159T>G c.2285T>G (p.Leu762Arg) c.2087T>G (p.Leu696Arg) c.2060T>G (p.Leu687Arg) n.2638T>G n.2640T>G c.2408T>G (p.Leu803Arg) c.2177T>G (p.Leu726Arg) n.2423T>G | |
11 | g.77179081G>A | CA475794880 | MYO7A | c.2319G>A (p.Leu773=) c.384G>A (p.Leu128=) c.160G>A c.2286G>A (p.Leu762=) c.2088G>A (p.Leu696=) c.2061G>A (p.Leu687=) n.2639G>A n.2641G>A c.2409G>A (p.Leu803=) c.2178G>A (p.Leu726=) n.2424G>A | |
11 | g.77179081G>C | CA475794881 | MYO7A | c.2319G>C (p.Leu773=) c.384G>C (p.Leu128=) c.160G>C c.2286G>C (p.Leu762=) c.2088G>C (p.Leu696=) c.2061G>C (p.Leu687=) n.2639G>C n.2641G>C c.2409G>C (p.Leu803=) c.2178G>C (p.Leu726=) n.2424G>C | |
11 | g.77179081G= | CA1984120979 | MYO7A | c.2319G= (p.Leu773=) c.384G= (p.Leu128=) c.160G= c.2286G= (p.Leu762=) c.2088G= (p.Leu696=) c.2061G= (p.Leu687=) n.2639G= n.2641G= c.2409G= (p.Leu803=) c.2178G= (p.Leu726=) n.2424G= | |
11 | g.77179081G>T | CA6197807 | MYO7A | c.2319G>T (p.Leu773=) c.384G>T (p.Leu128=) c.160G>T c.2286G>T (p.Leu762=) c.2088G>T (p.Leu696=) c.2061G>T (p.Leu687=) n.2639G>T n.2641G>T c.2409G>T (p.Leu803=) c.2178G>T (p.Leu726=) n.2424G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77179082A= | CA1984120981 | MYO7A | c.2320A= (p.Ile774=) c.385A= (p.Ile129=) c.161A= c.2287A= (p.Ile763=) c.2089A= (p.Ile697=) c.2062A= (p.Ile688=) n.2640A= n.2642A= c.2410A= (p.Ile804=) c.2179A= (p.Ile727=) n.2425A= | |
11 | g.77179082A>C | CA381940906 | MYO7A | c.2320A>C (p.Ile774Leu) c.385A>C (p.Ile129Leu) c.161A>C c.2287A>C (p.Ile763Leu) c.2089A>C (p.Ile697Leu) c.2062A>C (p.Ile688Leu) n.2640A>C n.2642A>C c.2410A>C (p.Ile804Leu) c.2179A>C (p.Ile727Leu) n.2425A>C | |
11 | g.77179082A>G | CA381940908 | MYO7A | c.2320A>G (p.Ile774Val) c.385A>G (p.Ile129Val) c.161A>G c.2287A>G (p.Ile763Val) c.2089A>G (p.Ile697Val) c.2062A>G (p.Ile688Val) n.2640A>G n.2642A>G c.2410A>G (p.Ile804Val) c.2179A>G (p.Ile727Val) n.2425A>G | ClinVar dbSNP gnomAD v4 |
11 | g.77179082A>T | CA381940909 | MYO7A | c.2320A>T (p.Ile774Phe) c.385A>T (p.Ile129Phe) c.161A>T c.2287A>T (p.Ile763Phe) c.2089A>T (p.Ile697Phe) c.2062A>T (p.Ile688Phe) n.2640A>T n.2642A>T c.2410A>T (p.Ile804Phe) c.2179A>T (p.Ile727Phe) n.2425A>T | |
11 | g.77179083T>A | CA381940912 | MYO7A | c.2321T>A (p.Ile774Asn) c.386T>A (p.Ile129Asn) c.162T>A c.2288T>A (p.Ile763Asn) c.2090T>A (p.Ile697Asn) c.2063T>A (p.Ile688Asn) n.2641T>A n.2643T>A c.2411T>A (p.Ile804Asn) c.2180T>A (p.Ile727Asn) n.2426T>A | |
11 | g.77179083T>C | CA381940913 | MYO7A | c.2321T>C (p.Ile774Thr) c.386T>C (p.Ile129Thr) c.162T>C c.2288T>C (p.Ile763Thr) c.2090T>C (p.Ile697Thr) c.2063T>C (p.Ile688Thr) n.2641T>C n.2643T>C c.2411T>C (p.Ile804Thr) c.2180T>C (p.Ile727Thr) n.2426T>C | gnomAD v4 |
11 | g.77179083T>G | CA381940914 | MYO7A | c.2321T>G (p.Ile774Ser) c.386T>G (p.Ile129Ser) c.162T>G c.2288T>G (p.Ile763Ser) c.2090T>G (p.Ile697Ser) c.2063T>G (p.Ile688Ser) n.2641T>G n.2643T>G c.2411T>G (p.Ile804Ser) c.2180T>G (p.Ile727Ser) n.2426T>G | |
11 | g.77179084C>A | CA6197808 | MYO7A | c.2322C>A (p.Ile774=) c.387C>A (p.Ile129=) c.163C>A c.2289C>A (p.Ile763=) c.2091C>A (p.Ile697=) c.2064C>A (p.Ile688=) n.2642C>A n.2644C>A c.2412C>A (p.Ile804=) c.2181C>A (p.Ile727=) n.2427C>A | ClinVar dbSNP ExAC gnomAD v2 |
11 | g.77179084C= | CA1984120986 | MYO7A | c.2322C= (p.Ile774=) c.387C= (p.Ile129=) c.163C= c.2289C= (p.Ile763=) c.2091C= (p.Ile697=) c.2064C= (p.Ile688=) n.2642C= n.2644C= c.2412C= (p.Ile804=) c.2181C= (p.Ile727=) n.2427C= | |
11 | g.77179084C>G | CA381940915 | MYO7A | c.2322C>G (p.Ile774Met) c.387C>G (p.Ile129Met) c.163C>G c.2289C>G (p.Ile763Met) c.2091C>G (p.Ile697Met) c.2064C>G (p.Ile688Met) n.2642C>G n.2644C>G c.2412C>G (p.Ile804Met) c.2181C>G (p.Ile727Met) n.2427C>G | |
11 | g.77179084C>T | CA475794882 | MYO7A | c.2322C>T (p.Ile774=) c.387C>T (p.Ile129=) c.163C>T c.2289C>T (p.Ile763=) c.2091C>T (p.Ile697=) c.2064C>T (p.Ile688=) n.2642C>T n.2644C>T c.2412C>T (p.Ile804=) c.2181C>T (p.Ile727=) n.2427C>T | gnomAD v4 |
11 | g.77179085C>A | CA381940917 | MYO7A | c.2323C>A (p.Gln775Lys) c.388C>A (p.Gln130Lys) c.164C>A c.2290C>A (p.Gln764Lys) c.2092C>A (p.Gln698Lys) c.2065C>A (p.Gln689Lys) n.2643C>A n.2645C>A c.2413C>A (p.Gln805Lys) c.2182C>A (p.Gln728Lys) n.2428C>A | |
11 | g.77179085C= | CA1984120991 | MYO7A | c.2323C= (p.Gln775=) c.388C= (p.Gln130=) c.164C= c.2290C= (p.Gln764=) c.2092C= (p.Gln698=) c.2065C= (p.Gln689=) n.2643C= n.2645C= c.2413C= (p.Gln805=) c.2182C= (p.Gln728=) n.2428C= | |
11 | g.77179085C>G | CA381940919 | MYO7A | c.2323C>G (p.Gln775Glu) c.388C>G (p.Gln130Glu) c.164C>G c.2290C>G (p.Gln764Glu) c.2092C>G (p.Gln698Glu) c.2065C>G (p.Gln689Glu) n.2643C>G n.2645C>G c.2413C>G (p.Gln805Glu) c.2182C>G (p.Gln728Glu) n.2428C>G | |
11 | g.77179085C>T | CA6197809 | MYO7A | c.2323C>T (p.Gln775Ter) c.388C>T (p.Gln130Ter) c.164C>T c.2290C>T (p.Gln764Ter) c.2092C>T (p.Gln698Ter) c.2065C>T (p.Gln689Ter) n.2643C>T n.2645C>T c.2413C>T (p.Gln805Ter) c.2182C>T (p.Gln728Ter) n.2428C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77179086A>C | CA381940925 | MYO7A | c.2324A>C (p.Gln775Pro) c.389A>C (p.Gln130Pro) c.165A>C c.2291A>C (p.Gln764Pro) c.2093A>C (p.Gln698Pro) c.2066A>C (p.Gln689Pro) n.2644A>C n.2646A>C c.2414A>C (p.Gln805Pro) c.2183A>C (p.Gln728Pro) n.2429A>C | |
11 | g.77179086A>G | CA381940923 | MYO7A | c.2324A>G (p.Gln775Arg) c.389A>G (p.Gln130Arg) c.165A>G c.2291A>G (p.Gln764Arg) c.2093A>G (p.Gln698Arg) c.2066A>G (p.Gln689Arg) n.2644A>G n.2646A>G c.2414A>G (p.Gln805Arg) c.2183A>G (p.Gln728Arg) n.2429A>G | |
11 | g.77179086A>T | CA381940922 | MYO7A | c.2324A>T (p.Gln775Leu) c.389A>T (p.Gln130Leu) c.165A>T c.2291A>T (p.Gln764Leu) c.2093A>T (p.Gln698Leu) c.2066A>T (p.Gln689Leu) n.2644A>T n.2646A>T c.2414A>T (p.Gln805Leu) c.2183A>T (p.Gln728Leu) n.2429A>T | |
11 | g.77179087G>A | CA475794883 | MYO7A | c.2325G>A (p.Gln775=) c.390G>A (p.Gln130=) c.166G>A c.2292G>A (p.Gln764=) c.2094G>A (p.Gln698=) c.2067G>A (p.Gln689=) n.2645G>A n.2647G>A c.2415G>A (p.Gln805=) c.2184G>A (p.Gln728=) n.2430G>A | |
11 | g.77179087G>C | CA381940927 | MYO7A | c.2325G>C (p.Gln775His) c.390G>C (p.Gln130His) c.166G>C c.2292G>C (p.Gln764His) c.2094G>C (p.Gln698His) c.2067G>C (p.Gln689His) n.2645G>C n.2647G>C c.2415G>C (p.Gln805His) c.2184G>C (p.Gln728His) n.2430G>C | |
11 | g.77179087G>T | CA381940928 | MYO7A | c.2325G>T (p.Gln775His) c.390G>T (p.Gln130His) c.166G>T c.2292G>T (p.Gln764His) c.2094G>T (p.Gln698His) c.2067G>T (p.Gln689His) n.2645G>T n.2647G>T c.2415G>T (p.Gln805His) c.2184G>T (p.Gln728His) n.2430G>T | |
11 | g.77179088A>C | CA475794884 | MYO7A | c.2326A>C (p.Arg776=) c.391A>C (p.Arg131=) c.167A>C c.2293A>C (p.Arg765=) c.2095A>C (p.Arg699=) c.2068A>C (p.Arg690=) n.2646A>C n.2648A>C c.2416A>C (p.Arg806=) c.2185A>C (p.Arg729=) n.2431A>C | |
11 | g.77179088A>G | CA381940929 | MYO7A | c.2326A>G (p.Arg776Gly) c.391A>G (p.Arg131Gly) c.167A>G c.2293A>G (p.Arg765Gly) c.2095A>G (p.Arg699Gly) c.2068A>G (p.Arg690Gly) n.2646A>G n.2648A>G c.2416A>G (p.Arg806Gly) c.2185A>G (p.Arg729Gly) n.2431A>G | |
11 | g.77179088A>T | CA381940931 | MYO7A | c.2326A>T (p.Arg776Trp) c.391A>T (p.Arg131Trp) c.167A>T c.2293A>T (p.Arg765Trp) c.2095A>T (p.Arg699Trp) c.2068A>T (p.Arg690Trp) n.2646A>T n.2648A>T c.2416A>T (p.Arg806Trp) c.2185A>T (p.Arg729Trp) n.2431A>T | |
11 | g.77179089G>A | CA381940933 | MYO7A | c.2327G>A (p.Arg776Lys) c.392G>A (p.Arg131Lys) c.168G>A c.2294G>A (p.Arg765Lys) c.2096G>A (p.Arg699Lys) c.2069G>A (p.Arg690Lys) n.2647G>A n.2649G>A c.2417G>A (p.Arg806Lys) c.2186G>A (p.Arg729Lys) n.2432G>A | |
11 | g.77179089G>C | CA381940934 | MYO7A | c.2327G>C (p.Arg776Thr) c.392G>C (p.Arg131Thr) c.168G>C c.2294G>C (p.Arg765Thr) c.2096G>C (p.Arg699Thr) c.2069G>C (p.Arg690Thr) n.2647G>C n.2649G>C c.2417G>C (p.Arg806Thr) c.2186G>C (p.Arg729Thr) n.2432G>C | |
11 | g.77179089G>T | CA381940935 | MYO7A | c.2327G>T (p.Arg776Met) c.392G>T (p.Arg131Met) c.168G>T c.2294G>T (p.Arg765Met) c.2096G>T (p.Arg699Met) c.2069G>T (p.Arg690Met) n.2647G>T n.2649G>T c.2417G>T (p.Arg806Met) c.2186G>T (p.Arg729Met) n.2432G>T | |
11 | g.77179090G>A | CA475794885 | MYO7A | c.2328G>A (p.Arg776=) c.393G>A (p.Arg131=) c.169G>A c.2295G>A (p.Arg765=) c.2097G>A (p.Arg699=) c.2070G>A (p.Arg690=) n.2648G>A n.2650G>A c.2418G>A (p.Arg806=) c.2187G>A (p.Arg729=) n.2433G>A | ClinVar dbSNP |
11 | g.77179090G>C | CA381940937 | MYO7A | c.2328G>C (p.Arg776Ser) c.393G>C (p.Arg131Ser) c.169G>C c.2295G>C (p.Arg765Ser) c.2097G>C (p.Arg699Ser) c.2070G>C (p.Arg690Ser) n.2648G>C n.2650G>C c.2418G>C (p.Arg806Ser) c.2187G>C (p.Arg729Ser) n.2433G>C | |
11 | g.77179090G>T | CA381940938 | MYO7A | c.2328G>T (p.Arg776Ser) c.393G>T (p.Arg131Ser) c.169G>T c.2295G>T (p.Arg765Ser) c.2097G>T (p.Arg699Ser) c.2070G>T (p.Arg690Ser) n.2648G>T n.2650G>T c.2418G>T (p.Arg806Ser) c.2187G>T (p.Arg729Ser) n.2433G>T | gnomAD v4 |
11 | g.77179091C>A | CA381940940 | MYO7A | c.2329C>A (p.His777Asn) c.394C>A (p.His132Asn) c.170C>A c.2296C>A (p.His766Asn) c.2098C>A (p.His700Asn) c.2071C>A (p.His691Asn) n.2649C>A n.2651C>A c.2419C>A (p.His807Asn) c.2188C>A (p.His730Asn) n.2434C>A | |
11 | g.77179091C= | CA1984120999 | MYO7A | c.2329C= (p.His777=) c.394C= (p.His132=) c.170C= c.2296C= (p.His766=) c.2098C= (p.His700=) c.2071C= (p.His691=) n.2649C= n.2651C= c.2419C= (p.His807=) c.2188C= (p.His730=) n.2434C= | |
11 | g.77179091C>G | CA381940942 | MYO7A | c.2329C>G (p.His777Asp) c.394C>G (p.His132Asp) c.170C>G c.2296C>G (p.His766Asp) c.2098C>G (p.His700Asp) c.2071C>G (p.His691Asp) n.2649C>G n.2651C>G c.2419C>G (p.His807Asp) c.2188C>G (p.His730Asp) n.2434C>G | |
11 | g.77179091C>T | CA381940944 | MYO7A | c.2329C>T (p.His777Tyr) c.394C>T (p.His132Tyr) c.170C>T c.2296C>T (p.His766Tyr) c.2098C>T (p.His700Tyr) c.2071C>T (p.His691Tyr) n.2649C>T n.2651C>T c.2419C>T (p.His807Tyr) c.2188C>T (p.His730Tyr) n.2434C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77179092A>C | CA381940945 | MYO7A | c.2330A>C (p.His777Pro) c.395A>C (p.His132Pro) c.171A>C c.2297A>C (p.His766Pro) c.2099A>C (p.His700Pro) c.2072A>C (p.His691Pro) n.2650A>C n.2652A>C c.2420A>C (p.His807Pro) c.2189A>C (p.His730Pro) n.2435A>C | |
11 | g.77179092A>G | CA381940948 | MYO7A | c.2330A>G (p.His777Arg) c.395A>G (p.His132Arg) c.171A>G c.2297A>G (p.His766Arg) c.2099A>G (p.His700Arg) c.2072A>G (p.His691Arg) n.2650A>G n.2652A>G c.2420A>G (p.His807Arg) c.2189A>G (p.His730Arg) n.2435A>G | |
11 | g.77179092A>T | CA381940946 | MYO7A | c.2330A>T (p.His777Leu) c.395A>T (p.His132Leu) c.171A>T c.2297A>T (p.His766Leu) c.2099A>T (p.His700Leu) c.2072A>T (p.His691Leu) n.2650A>T n.2652A>T c.2420A>T (p.His807Leu) c.2189A>T (p.His730Leu) n.2435A>T | |
11 | g.77179093C>A | CA381940950 | MYO7A | c.2331C>A (p.His777Gln) c.396C>A (p.His132Gln) c.172C>A c.2298C>A (p.His766Gln) c.2100C>A (p.His700Gln) c.2073C>A (p.His691Gln) n.2651C>A n.2653C>A c.2421C>A (p.His807Gln) c.2190C>A (p.His730Gln) n.2436C>A | |
11 | g.77179093C>G | CA381940952 | MYO7A | c.2331C>G (p.His777Gln) c.396C>G (p.His132Gln) c.172C>G c.2298C>G (p.His766Gln) c.2100C>G (p.His700Gln) c.2073C>G (p.His691Gln) n.2651C>G n.2653C>G c.2421C>G (p.His807Gln) c.2190C>G (p.His730Gln) n.2436C>G | |
11 | g.77179093C>T | CA475794886 | MYO7A | c.2331C>T (p.His777=) c.396C>T (p.His132=) c.172C>T c.2298C>T (p.His766=) c.2100C>T (p.His700=) c.2073C>T (p.His691=) n.2651C>T n.2653C>T c.2421C>T (p.His807=) c.2190C>T (p.His730=) n.2436C>T | gnomAD v4 |
11 | g.77179094T>A | CA381940954 | MYO7A | c.2332T>A (p.Trp778Arg) c.397T>A (p.Trp133Arg) c.173T>A c.2299T>A (p.Trp767Arg) c.2101T>A (p.Trp701Arg) c.2074T>A (p.Trp692Arg) n.2652T>A n.2654T>A c.2422T>A (p.Trp808Arg) c.2191T>A (p.Trp731Arg) n.2437T>A | |
11 | g.77179094T>C | CA381940957 | MYO7A | c.2332T>C (p.Trp778Arg) c.397T>C (p.Trp133Arg) c.173T>C c.2299T>C (p.Trp767Arg) c.2101T>C (p.Trp701Arg) c.2074T>C (p.Trp692Arg) n.2652T>C n.2654T>C c.2422T>C (p.Trp808Arg) c.2191T>C (p.Trp731Arg) n.2437T>C | |
11 | g.77179094T>G | CA381940956 | MYO7A | c.2332T>G (p.Trp778Gly) c.397T>G (p.Trp133Gly) c.173T>G c.2299T>G (p.Trp767Gly) c.2101T>G (p.Trp701Gly) c.2074T>G (p.Trp692Gly) n.2652T>G n.2654T>G c.2422T>G (p.Trp808Gly) c.2191T>G (p.Trp731Gly) n.2437T>G | |
11 | g.77179095G>A | CA381940959 | MYO7A | c.2333G>A (p.Trp778Ter) c.398G>A (p.Trp133Ter) c.174G>A c.2300G>A (p.Trp767Ter) c.2102G>A (p.Trp701Ter) c.2075G>A (p.Trp692Ter) n.2653G>A n.2655G>A c.2423G>A (p.Trp808Ter) c.2192G>A (p.Trp731Ter) n.2438G>A | gnomAD v4 |
11 | g.77179095G>C | CA381940963 | MYO7A | c.2333G>C (p.Trp778Ser) c.398G>C (p.Trp133Ser) c.174G>C c.2300G>C (p.Trp767Ser) c.2102G>C (p.Trp701Ser) c.2075G>C (p.Trp692Ser) n.2653G>C n.2655G>C c.2423G>C (p.Trp808Ser) c.2192G>C (p.Trp731Ser) n.2438G>C | |
11 | g.77179095G= | CA1984121005 | MYO7A | c.2333G= (p.Trp778=) c.398G= (p.Trp133=) c.174G= c.2300G= (p.Trp767=) c.2102G= (p.Trp701=) c.2075G= (p.Trp692=) n.2653G= n.2655G= c.2423G= (p.Trp808=) c.2192G= (p.Trp731=) n.2438G= | |
11 | g.77179095G>T | CA381940961 | MYO7A | c.2333G>T (p.Trp778Leu) c.398G>T (p.Trp133Leu) c.174G>T c.2300G>T (p.Trp767Leu) c.2102G>T (p.Trp701Leu) c.2075G>T (p.Trp692Leu) n.2653G>T n.2655G>T c.2423G>T (p.Trp808Leu) c.2192G>T (p.Trp731Leu) n.2438G>T | dbSNP |
11 | g.77179096G>A | CA381940965 | MYO7A | c.2334G>A (p.Trp778Ter) c.399G>A (p.Trp133Ter) c.175G>A c.2301G>A (p.Trp767Ter) c.2103G>A (p.Trp701Ter) c.2076G>A (p.Trp692Ter) n.2654G>A n.2656G>A c.2424G>A (p.Trp808Ter) c.2193G>A (p.Trp731Ter) n.2439G>A | |
11 | g.77179096G>C | CA381940966 | MYO7A | c.2334G>C (p.Trp778Cys) c.399G>C (p.Trp133Cys) c.175G>C c.2301G>C (p.Trp767Cys) c.2103G>C (p.Trp701Cys) c.2076G>C (p.Trp692Cys) n.2654G>C n.2656G>C c.2424G>C (p.Trp808Cys) c.2193G>C (p.Trp731Cys) n.2439G>C | dbSNP |
11 | g.77179096G= | CA1984121010 | MYO7A | c.2334G= (p.Trp778=) c.399G= (p.Trp133=) c.175G= c.2301G= (p.Trp767=) c.2103G= (p.Trp701=) c.2076G= (p.Trp692=) n.2654G= n.2656G= c.2424G= (p.Trp808=) c.2193G= (p.Trp731=) n.2439G= | |
11 | g.77179096G>T | CA381940968 | MYO7A | c.2334G>T (p.Trp778Cys) c.399G>T (p.Trp133Cys) c.175G>T c.2301G>T (p.Trp767Cys) c.2103G>T (p.Trp701Cys) c.2076G>T (p.Trp692Cys) n.2654G>T n.2656G>T c.2424G>T (p.Trp808Cys) c.2193G>T (p.Trp731Cys) n.2439G>T | |
11 | g.77179097C>A | CA475794887 | MYO7A | c.2335C>A (p.Arg779=) c.400C>A (p.Arg134=) c.176C>A c.2302C>A (p.Arg768=) c.2104C>A (p.Arg702=) c.2077C>A (p.Arg693=) n.2655C>A n.2657C>A c.2425C>A (p.Arg809=) c.2194C>A (p.Arg732=) n.2440C>A | ClinVar |
11 | g.77179097C= | CA1984121020 | MYO7A | c.2335C= (p.Arg779=) c.400C= (p.Arg134=) c.176C= c.2302C= (p.Arg768=) c.2104C= (p.Arg702=) c.2077C= (p.Arg693=) n.2655C= n.2657C= c.2425C= (p.Arg809=) c.2194C= (p.Arg732=) n.2440C= | |
11 | g.77179097C>G | CA381940970 | MYO7A | c.2335C>G (p.Arg779Gly) c.400C>G (p.Arg134Gly) c.176C>G c.2302C>G (p.Arg768Gly) c.2104C>G (p.Arg702Gly) c.2077C>G (p.Arg693Gly) n.2655C>G n.2657C>G c.2425C>G (p.Arg809Gly) c.2194C>G (p.Arg732Gly) n.2440C>G | |
11 | g.77179097C>T | CA224840783 | MYO7A | c.2335C>T (p.Arg779Trp) c.400C>T (p.Arg134Trp) c.176C>T c.2302C>T (p.Arg768Trp) c.2104C>T (p.Arg702Trp) c.2077C>T (p.Arg693Trp) n.2655C>T n.2657C>T c.2425C>T (p.Arg809Trp) c.2194C>T (p.Arg732Trp) n.2440C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.77179097_77179098delinsCG | CA1984121022 | MYO7A | c.2335_2336delinsCG (p.Arg779=) c.400_401delinsCG (p.Arg134=) c.176_177delinsCG c.2302_2303delinsCG (p.Arg768=) c.2104_2105delinsCG (p.Arg702=) c.2077_2078delinsCG (p.Arg693=) n.2655_2656delinsCG n.2657_2658delinsCG c.2425_2426delinsCG (p.Arg809=) c.2194_2195delinsCG (p.Arg732=) n.2440_2441delinsCG | |
11 | g.77179098G>A | CA381940973 | MYO7A | c.2336G>A (p.Arg779Gln) c.401G>A (p.Arg134Gln) c.177G>A c.2303G>A (p.Arg768Gln) c.2105G>A (p.Arg702Gln) c.2078G>A (p.Arg693Gln) n.2656G>A n.2658G>A c.2426G>A (p.Arg809Gln) c.2195G>A (p.Arg732Gln) n.2441G>A | gnomAD v4 |
11 | g.77179098G>C | CA381940975 | MYO7A | c.2336G>C (p.Arg779Pro) c.401G>C (p.Arg134Pro) c.177G>C c.2303G>C (p.Arg768Pro) c.2105G>C (p.Arg702Pro) c.2078G>C (p.Arg693Pro) n.2656G>C n.2658G>C c.2426G>C (p.Arg809Pro) c.2195G>C (p.Arg732Pro) n.2441G>C | |
11 | g.77179098G>T | CA381940976 | MYO7A | c.2336G>T (p.Arg779Leu) c.401G>T (p.Arg134Leu) c.177G>T c.2303G>T (p.Arg768Leu) c.2105G>T (p.Arg702Leu) c.2078G>T (p.Arg693Leu) n.2656G>T n.2658G>T c.2426G>T (p.Arg809Leu) c.2195G>T (p.Arg732Leu) n.2441G>T | |
11 | g.77179101del | CA658822153 | MYO7A | c.2339del (p.Gly780ValfsTer10) c.404del (p.Gly135ValfsTer10) c.180del c.2306del (p.Gly769ValfsTer10) c.2339del (p.Gly780ValfsTer?) c.2108del (p.Gly703ValfsTer10) c.2081del (p.Gly694ValfsTer10) n.2659del n.2661del c.2429del (p.Gly810ValfsTer10) c.2198del (p.Gly733ValfsTer10) n.2444del | ClinVar dbSNP |
11 | g.77179099G>A | CA6197810 | MYO7A | c.2337G>A (p.Arg779=) c.402G>A (p.Arg134=) c.178G>A c.2304G>A (p.Arg768=) c.2106G>A (p.Arg702=) c.2079G>A (p.Arg693=) n.2657G>A n.2659G>A c.2427G>A (p.Arg809=) c.2196G>A (p.Arg732=) n.2442G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77179099G>C | CA475794888 | MYO7A | c.2337G>C (p.Arg779=) c.402G>C (p.Arg134=) c.178G>C c.2304G>C (p.Arg768=) c.2106G>C (p.Arg702=) c.2079G>C (p.Arg693=) n.2657G>C n.2659G>C c.2427G>C (p.Arg809=) c.2196G>C (p.Arg732=) n.2442G>C | |
11 | g.77179099G= | CA1984121036 | MYO7A | c.2337G= (p.Arg779=) c.402G= (p.Arg134=) c.178G= c.2304G= (p.Arg768=) c.2106G= (p.Arg702=) c.2079G= (p.Arg693=) n.2657G= n.2659G= c.2427G= (p.Arg809=) c.2196G= (p.Arg732=) n.2442G= | |
11 | g.77179099G>T | CA475794889 | MYO7A | c.2337G>T (p.Arg779=) c.402G>T (p.Arg134=) c.178G>T c.2304G>T (p.Arg768=) c.2106G>T (p.Arg702=) c.2079G>T (p.Arg693=) n.2657G>T n.2659G>T c.2427G>T (p.Arg809=) c.2196G>T (p.Arg732=) n.2442G>T | |
11 | g.77179100G>A | CA381940979 | MYO7A | c.2338G>A (p.Gly780Ser) c.403G>A (p.Gly135Ser) c.179G>A c.2305G>A (p.Gly769Ser) c.2107G>A (p.Gly703Ser) c.2080G>A (p.Gly694Ser) n.2658G>A n.2660G>A c.2428G>A (p.Gly810Ser) c.2197G>A (p.Gly733Ser) n.2443G>A | ClinVar dbSNP |
11 | g.77179100G>C | CA381940981 | MYO7A | c.2338G>C (p.Gly780Arg) c.403G>C (p.Gly135Arg) c.179G>C c.2305G>C (p.Gly769Arg) c.2107G>C (p.Gly703Arg) c.2080G>C (p.Gly694Arg) n.2658G>C n.2660G>C c.2428G>C (p.Gly810Arg) c.2197G>C (p.Gly733Arg) n.2443G>C | gnomAD v4 |
11 | g.77179100G>T | CA381940983 | MYO7A | c.2338G>T (p.Gly780Cys) c.403G>T (p.Gly135Cys) c.179G>T c.2305G>T (p.Gly769Cys) c.2107G>T (p.Gly703Cys) c.2080G>T (p.Gly694Cys) n.2658G>T n.2660G>T c.2428G>T (p.Gly810Cys) c.2197G>T (p.Gly733Cys) n.2443G>T | |
11 | g.77179101G>A | CA381940984 | MYO7A | c.2339G>A (p.Gly780Asp) c.404G>A (p.Gly135Asp) c.180G>A c.2306G>A (p.Gly769Asp) c.2108G>A (p.Gly703Asp) c.2081G>A (p.Gly694Asp) n.2659G>A n.2661G>A c.2429G>A (p.Gly810Asp) c.2198G>A (p.Gly733Asp) n.2444G>A | gnomAD v4 |
11 | g.77179101G>C | CA381940988 | MYO7A | c.2339G>C (p.Gly780Ala) c.404G>C (p.Gly135Ala) c.180G>C c.2306G>C (p.Gly769Ala) c.2108G>C (p.Gly703Ala) c.2081G>C (p.Gly694Ala) n.2659G>C n.2661G>C c.2429G>C (p.Gly810Ala) c.2198G>C (p.Gly733Ala) n.2444G>C | gnomAD v4 |
11 | g.77179101G>T | CA381940986 | MYO7A | c.2339G>T (p.Gly780Val) c.404G>T (p.Gly135Val) c.180G>T c.2306G>T (p.Gly769Val) c.2108G>T (p.Gly703Val) c.2081G>T (p.Gly694Val) n.2659G>T n.2661G>T c.2429G>T (p.Gly810Val) c.2198G>T (p.Gly733Val) n.2444G>T | |
11 | g.77179102T>A | CA475794890 | MYO7A | c.2340T>A (p.Gly780=) c.405T>A (p.Gly135=) c.181T>A c.2307T>A (p.Gly769=) c.2109T>A (p.Gly703=) c.2082T>A (p.Gly694=) n.2660T>A n.2662T>A c.2430T>A (p.Gly810=) c.2199T>A (p.Gly733=) n.2445T>A | |
11 | g.77179102T>C | CA475794891 | MYO7A | c.2340T>C (p.Gly780=) c.405T>C (p.Gly135=) c.181T>C c.2307T>C (p.Gly769=) c.2109T>C (p.Gly703=) c.2082T>C (p.Gly694=) n.2660T>C n.2662T>C c.2430T>C (p.Gly810=) c.2199T>C (p.Gly733=) n.2445T>C | gnomAD v4 |
11 | g.77179102T>G | CA241886 | MYO7A | c.2340T>G (p.Gly780=) c.405T>G (p.Gly135=) c.181T>G c.2307T>G (p.Gly769=) c.2109T>G (p.Gly703=) c.2082T>G (p.Gly694=) n.2660T>G n.2662T>G c.2430T>G (p.Gly810=) c.2199T>G (p.Gly733=) n.2445T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77179102T= | CA1984121041 | MYO7A | c.2340T= (p.Gly780=) c.405T= (p.Gly135=) c.181T= c.2307T= (p.Gly769=) c.2109T= (p.Gly703=) c.2082T= (p.Gly694=) n.2660T= n.2662T= c.2430T= (p.Gly810=) c.2199T= (p.Gly733=) n.2445T= | |
11 | g.77179103C>A | CA381940990 | MYO7A | c.2341C>A (p.His781Asn) c.406C>A (p.His136Asn) c.182C>A c.2308C>A (p.His770Asn) c.2110C>A (p.His704Asn) c.2083C>A (p.His695Asn) n.2661C>A n.2663C>A c.2431C>A (p.His811Asn) c.2200C>A (p.His734Asn) n.2446C>A | |
11 | g.77179103C>G | CA381940993 | MYO7A | c.2341C>G (p.His781Asp) c.406C>G (p.His136Asp) c.182C>G c.2308C>G (p.His770Asp) c.2110C>G (p.His704Asp) c.2083C>G (p.His695Asp) n.2661C>G n.2663C>G c.2431C>G (p.His811Asp) c.2200C>G (p.His734Asp) n.2446C>G | |
11 | g.77179103C>T | CA381940994 | MYO7A | c.2341C>T (p.His781Tyr) c.406C>T (p.His136Tyr) c.182C>T c.2308C>T (p.His770Tyr) c.2110C>T (p.His704Tyr) c.2083C>T (p.His695Tyr) n.2661C>T n.2663C>T c.2431C>T (p.His811Tyr) c.2200C>T (p.His734Tyr) n.2446C>T | |
11 | g.77179104A>C | CA381940995 | MYO7A | c.2342A>C (p.His781Pro) c.407A>C (p.His136Pro) c.183A>C c.2309A>C (p.His770Pro) c.2111A>C (p.His704Pro) c.2084A>C (p.His695Pro) n.2662A>C n.2664A>C c.2432A>C (p.His811Pro) c.2201A>C (p.His734Pro) n.2447A>C | |
11 | g.77179104A>G | CA381940997 | MYO7A | c.2342A>G (p.His781Arg) c.407A>G (p.His136Arg) c.183A>G c.2309A>G (p.His770Arg) c.2111A>G (p.His704Arg) c.2084A>G (p.His695Arg) n.2662A>G n.2664A>G c.2432A>G (p.His811Arg) c.2201A>G (p.His734Arg) n.2447A>G | |
11 | g.77179104A>T | CA381940999 | MYO7A | c.2342A>T (p.His781Leu) c.407A>T (p.His136Leu) c.183A>T c.2309A>T (p.His770Leu) c.2111A>T (p.His704Leu) c.2084A>T (p.His695Leu) n.2662A>T n.2664A>T c.2432A>T (p.His811Leu) c.2201A>T (p.His734Leu) n.2447A>T | |
11 | g.77179105C>A | CA224840791 | MYO7A | c.2343C>A (p.His781Gln) c.408C>A (p.His136Gln) c.184C>A c.2310C>A (p.His770Gln) c.2112C>A (p.His704Gln) c.2085C>A (p.His695Gln) n.2663C>A n.2665C>A c.2433C>A (p.His811Gln) c.2202C>A (p.His734Gln) n.2448C>A | dbSNP gnomAD v4 |
11 | g.77179105C= | CA1984121046 | MYO7A | c.2343C= (p.His781=) c.408C= (p.His136=) c.184C= c.2310C= (p.His770=) c.2112C= (p.His704=) c.2085C= (p.His695=) n.2663C= n.2665C= c.2433C= (p.His811=) c.2202C= (p.His734=) n.2448C= | |
11 | g.77179105C>G | CA381941001 | MYO7A | c.2343C>G (p.His781Gln) c.408C>G (p.His136Gln) c.184C>G c.2310C>G (p.His770Gln) c.2112C>G (p.His704Gln) c.2085C>G (p.His695Gln) n.2663C>G n.2665C>G c.2433C>G (p.His811Gln) c.2202C>G (p.His734Gln) n.2448C>G | |
11 | g.77179105C>T | CA475794892 | MYO7A | c.2343C>T (p.His781=) c.408C>T (p.His136=) c.184C>T c.2310C>T (p.His770=) c.2112C>T (p.His704=) c.2085C>T (p.His695=) n.2663C>T n.2665C>T c.2433C>T (p.His811=) c.2202C>T (p.His734=) n.2448C>T | |
11 | g.77179106A>C | CA381941005 | MYO7A | c.2344A>C (p.Asn782His) c.409A>C (p.Asn137His) c.185A>C c.2311A>C (p.Asn771His) c.2113A>C (p.Asn705His) c.2086A>C (p.Asn696His) n.2664A>C n.2666A>C c.2434A>C (p.Asn812His) c.2203A>C (p.Asn735His) n.2449A>C | |
11 | g.77179106A>G | CA381941007 | MYO7A | c.2344A>G (p.Asn782Asp) c.409A>G (p.Asn137Asp) c.185A>G c.2311A>G (p.Asn771Asp) c.2113A>G (p.Asn705Asp) c.2086A>G (p.Asn696Asp) n.2664A>G n.2666A>G c.2434A>G (p.Asn812Asp) c.2203A>G (p.Asn735Asp) n.2449A>G | |
11 | g.77179106A>T | CA381941004 | MYO7A | c.2344A>T (p.Asn782Tyr) c.409A>T (p.Asn137Tyr) c.185A>T c.2311A>T (p.Asn771Tyr) c.2113A>T (p.Asn705Tyr) c.2086A>T (p.Asn696Tyr) n.2664A>T n.2666A>T c.2434A>T (p.Asn812Tyr) c.2203A>T (p.Asn735Tyr) n.2449A>T | |
11 | g.77179107A= | CA1984121052 | MYO7A | c.2345A= (p.Asn782=) c.410A= (p.Asn137=) c.186A= c.2312A= (p.Asn771=) c.2114A= (p.Asn705=) c.2087A= (p.Asn696=) n.2665A= n.2667A= c.2435A= (p.Asn812=) c.2204A= (p.Asn735=) n.2450A= | |
11 | g.77179107A>C | CA381941009 | MYO7A | c.2345A>C (p.Asn782Thr) c.410A>C (p.Asn137Thr) c.186A>C c.2312A>C (p.Asn771Thr) c.2114A>C (p.Asn705Thr) c.2087A>C (p.Asn696Thr) n.2665A>C n.2667A>C c.2435A>C (p.Asn812Thr) c.2204A>C (p.Asn735Thr) n.2450A>C | |
11 | g.77179107A>G | CA6197811 | MYO7A | c.2345A>G (p.Asn782Ser) c.410A>G (p.Asn137Ser) c.186A>G c.2312A>G (p.Asn771Ser) c.2114A>G (p.Asn705Ser) c.2087A>G (p.Asn696Ser) n.2665A>G n.2667A>G c.2435A>G (p.Asn812Ser) c.2204A>G (p.Asn735Ser) n.2450A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77179107A>T | CA381941012 | MYO7A | c.2345A>T (p.Asn782Ile) c.410A>T (p.Asn137Ile) c.186A>T c.2312A>T (p.Asn771Ile) c.2114A>T (p.Asn705Ile) c.2087A>T (p.Asn696Ile) n.2665A>T n.2667A>T c.2435A>T (p.Asn812Ile) c.2204A>T (p.Asn735Ile) n.2450A>T | |
11 | g.77179108C>A | CA381941014 | MYO7A | c.2346C>A (p.Asn782Lys) c.411C>A (p.Asn137Lys) c.187C>A c.2313C>A (p.Asn771Lys) c.2115C>A (p.Asn705Lys) c.2088C>A (p.Asn696Lys) n.2666C>A n.2668C>A c.2436C>A (p.Asn812Lys) c.2205C>A (p.Asn735Lys) n.2451C>A | gnomAD v4 |
11 | g.77179108C>G | CA381941016 | MYO7A | c.2346C>G (p.Asn782Lys) c.411C>G (p.Asn137Lys) c.187C>G c.2313C>G (p.Asn771Lys) c.2115C>G (p.Asn705Lys) c.2088C>G (p.Asn696Lys) n.2666C>G n.2668C>G c.2436C>G (p.Asn812Lys) c.2205C>G (p.Asn735Lys) n.2451C>G | |
11 | g.77179108C>T | CA475794893 | MYO7A | c.2346C>T (p.Asn782=) c.411C>T (p.Asn137=) c.187C>T c.2313C>T (p.Asn771=) c.2115C>T (p.Asn705=) c.2088C>T (p.Asn696=) n.2666C>T n.2668C>T c.2436C>T (p.Asn812=) c.2205C>T (p.Asn735=) n.2451C>T | gnomAD v4 |
11 | g.77179109T>A | CA381941017 | MYO7A | c.2347T>A (p.Cys783Ser) c.412T>A (p.Cys138Ser) c.188T>A c.2314T>A (p.Cys772Ser) c.2116T>A (p.Cys706Ser) c.2089T>A (p.Cys697Ser) n.2667T>A n.2669T>A c.2437T>A (p.Cys813Ser) c.2206T>A (p.Cys736Ser) n.2452T>A | |
11 | g.77179109T>C | CA381941019 | MYO7A | c.2347T>C (p.Cys783Arg) c.412T>C (p.Cys138Arg) c.188T>C c.2314T>C (p.Cys772Arg) c.2116T>C (p.Cys706Arg) c.2089T>C (p.Cys697Arg) n.2667T>C n.2669T>C c.2437T>C (p.Cys813Arg) c.2206T>C (p.Cys736Arg) n.2452T>C | |
11 | g.77179109T>G | CA381941021 | MYO7A | c.2347T>G (p.Cys783Gly) c.412T>G (p.Cys138Gly) c.188T>G c.2314T>G (p.Cys772Gly) c.2116T>G (p.Cys706Gly) c.2089T>G (p.Cys697Gly) n.2667T>G n.2669T>G c.2437T>G (p.Cys813Gly) c.2206T>G (p.Cys736Gly) n.2452T>G | gnomAD v4 |
11 | g.77179110G>A | CA224840795 | MYO7A | c.2348G>A (p.Cys783Tyr) c.413G>A (p.Cys138Tyr) c.189G>A c.2315G>A (p.Cys772Tyr) c.2117G>A (p.Cys706Tyr) c.2090G>A (p.Cys697Tyr) n.2668G>A n.2670G>A c.2438G>A (p.Cys813Tyr) c.2207G>A (p.Cys736Tyr) n.2453G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77179110G>C | CA381941023 | MYO7A | c.2348G>C (p.Cys783Ser) c.413G>C (p.Cys138Ser) c.189G>C c.2315G>C (p.Cys772Ser) c.2117G>C (p.Cys706Ser) c.2090G>C (p.Cys697Ser) n.2668G>C n.2670G>C c.2438G>C (p.Cys813Ser) c.2207G>C (p.Cys736Ser) n.2453G>C | ClinVar dbSNP |
11 | g.77179110G= | CA1984121055 | MYO7A | c.2348G= (p.Cys783=) c.413G= (p.Cys138=) c.189G= c.2315G= (p.Cys772=) c.2117G= (p.Cys706=) c.2090G= (p.Cys697=) n.2668G= n.2670G= c.2438G= (p.Cys813=) c.2207G= (p.Cys736=) n.2453G= | |
11 | g.77179110G>T | CA6197812 | MYO7A | c.2348G>T (p.Cys783Phe) c.413G>T (p.Cys138Phe) c.189G>T c.2315G>T (p.Cys772Phe) c.2117G>T (p.Cys706Phe) c.2090G>T (p.Cys697Phe) n.2668G>T n.2670G>T c.2438G>T (p.Cys813Phe) c.2207G>T (p.Cys736Phe) n.2453G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77179111T>A | CA381941026 | MYO7A | c.2349T>A (p.Cys783Ter) c.414T>A (p.Cys138Ter) c.190T>A c.2316T>A (p.Cys772Ter) c.2118T>A (p.Cys706Ter) c.2091T>A (p.Cys697Ter) n.2669T>A n.2671T>A c.2439T>A (p.Cys813Ter) c.2208T>A (p.Cys736Ter) n.2454T>A | |
11 | g.77179111T>C | CA475794894 | MYO7A | c.2349T>C (p.Cys783=) c.414T>C (p.Cys138=) c.190T>C c.2316T>C (p.Cys772=) c.2118T>C (p.Cys706=) c.2091T>C (p.Cys697=) n.2669T>C n.2671T>C c.2439T>C (p.Cys813=) c.2208T>C (p.Cys736=) n.2454T>C | |
11 | g.77179111T>G | CA381941027 | MYO7A | c.2349T>G (p.Cys783Trp) c.414T>G (p.Cys138Trp) c.190T>G c.2316T>G (p.Cys772Trp) c.2118T>G (p.Cys706Trp) c.2091T>G (p.Cys697Trp) n.2669T>G n.2671T>G c.2439T>G (p.Cys813Trp) c.2208T>G (p.Cys736Trp) n.2454T>G | |
11 | g.77179112A= | CA1984121062 | MYO7A | c.2350A= (p.Arg784=) c.415A= (p.Arg139=) c.191A= c.2317A= (p.Arg773=) c.2119A= (p.Arg707=) c.2092A= (p.Arg698=) n.2670A= n.2672A= c.2440A= (p.Arg814=) c.2209A= (p.Arg737=) n.2455A= | |
11 | g.77179112A>C | CA475794895 | MYO7A | c.2350A>C (p.Arg784=) c.415A>C (p.Arg139=) c.191A>C c.2317A>C (p.Arg773=) c.2119A>C (p.Arg707=) c.2092A>C (p.Arg698=) n.2670A>C n.2672A>C c.2440A>C (p.Arg814=) c.2209A>C (p.Arg737=) n.2455A>C | |
11 | g.77179112A>G | CA381941030 | MYO7A | c.2350A>G (p.Arg784Gly) c.415A>G (p.Arg139Gly) c.191A>G c.2317A>G (p.Arg773Gly) c.2119A>G (p.Arg707Gly) c.2092A>G (p.Arg698Gly) n.2670A>G n.2672A>G c.2440A>G (p.Arg814Gly) c.2209A>G (p.Arg737Gly) n.2455A>G | dbSNP gnomAD v4 |
11 | g.77179112A>T | CA381941031 | MYO7A | c.2350A>T (p.Arg784Trp) c.415A>T (p.Arg139Trp) c.191A>T c.2317A>T (p.Arg773Trp) c.2119A>T (p.Arg707Trp) c.2092A>T (p.Arg698Trp) n.2670A>T n.2672A>T c.2440A>T (p.Arg814Trp) c.2209A>T (p.Arg737Trp) n.2455A>T | dbSNP |
11 | g.77179113G>A | CA381941033 | MYO7A | c.2351G>A (p.Arg784Lys) c.416G>A (p.Arg139Lys) c.192G>A c.2318G>A (p.Arg773Lys) c.2120G>A (p.Arg707Lys) c.2093G>A (p.Arg698Lys) n.2671G>A n.2673G>A c.2441G>A (p.Arg814Lys) c.2210G>A (p.Arg737Lys) n.2456G>A | COSMIC |
11 | g.77179113G>C | CA381941035 | MYO7A | c.2351G>C (p.Arg784Thr) c.416G>C (p.Arg139Thr) c.192G>C c.2318G>C (p.Arg773Thr) c.2120G>C (p.Arg707Thr) c.2093G>C (p.Arg698Thr) n.2671G>C n.2673G>C c.2441G>C (p.Arg814Thr) c.2210G>C (p.Arg737Thr) n.2456G>C | |
11 | g.77179113G>T | CA381941036 | MYO7A | c.2351G>T (p.Arg784Met) c.416G>T (p.Arg139Met) c.192G>T c.2318G>T (p.Arg773Met) c.2120G>T (p.Arg707Met) c.2093G>T (p.Arg698Met) n.2671G>T n.2673G>T c.2441G>T (p.Arg814Met) c.2210G>T (p.Arg737Met) n.2456G>T | |
11 | g.77179114G>A | CA475794896 | MYO7A | c.2352G>A (p.Arg784=) c.417G>A (p.Arg139=) c.193G>A c.2319G>A (p.Arg773=) c.2121G>A (p.Arg707=) c.2094G>A (p.Arg698=) n.2672G>A n.2674G>A c.2442G>A (p.Arg814=) c.2211G>A (p.Arg737=) n.2457G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77179114G>C | CA381941037 | MYO7A | c.2352G>C (p.Arg784Ser) c.417G>C (p.Arg139Ser) c.193G>C c.2319G>C (p.Arg773Ser) c.2121G>C (p.Arg707Ser) c.2094G>C (p.Arg698Ser) n.2672G>C n.2674G>C c.2442G>C (p.Arg814Ser) c.2211G>C (p.Arg737Ser) n.2457G>C | |
11 | g.77179114G= | CA1984121068 | MYO7A | c.2352G= (p.Arg784=) c.417G= (p.Arg139=) c.193G= c.2319G= (p.Arg773=) c.2121G= (p.Arg707=) c.2094G= (p.Arg698=) n.2672G= n.2674G= c.2442G= (p.Arg814=) c.2211G= (p.Arg737=) n.2457G= | |
11 | g.77179114G>T | CA6197813 | MYO7A | c.2352G>T (p.Arg784Ser) c.417G>T (p.Arg139Ser) c.193G>T c.2319G>T (p.Arg773Ser) c.2121G>T (p.Arg707Ser) c.2094G>T (p.Arg698Ser) n.2672G>T n.2674G>T c.2442G>T (p.Arg814Ser) c.2211G>T (p.Arg737Ser) n.2457G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77179115A>C | CA381941038 | MYO7A | c.2353A>C (p.Lys785Gln) c.418A>C (p.Lys140Gln) c.194A>C c.2320A>C (p.Lys774Gln) c.2122A>C (p.Lys708Gln) c.2095A>C (p.Lys699Gln) n.2673A>C n.2675A>C c.2443A>C (p.Lys815Gln) c.2212A>C (p.Lys738Gln) n.2458A>C | |
11 | g.77179115A>G | CA381941039 | MYO7A | c.2353A>G (p.Lys785Glu) c.418A>G (p.Lys140Glu) c.194A>G c.2320A>G (p.Lys774Glu) c.2122A>G (p.Lys708Glu) c.2095A>G (p.Lys699Glu) n.2673A>G n.2675A>G c.2443A>G (p.Lys815Glu) c.2212A>G (p.Lys738Glu) n.2458A>G | gnomAD v4 |
11 | g.77179115A>T | CA381941041 | MYO7A | c.2353A>T (p.Lys785Ter) c.418A>T (p.Lys140Ter) c.194A>T c.2320A>T (p.Lys774Ter) c.2122A>T (p.Lys708Ter) c.2095A>T (p.Lys699Ter) n.2673A>T n.2675A>T c.2443A>T (p.Lys815Ter) c.2212A>T (p.Lys738Ter) n.2458A>T | |
11 | g.77179116A>C | CA381941043 | MYO7A | c.2354A>C (p.Lys785Thr) c.419A>C (p.Lys140Thr) c.195A>C c.2321A>C (p.Lys774Thr) c.2123A>C (p.Lys708Thr) c.2096A>C (p.Lys699Thr) n.2674A>C n.2676A>C c.2444A>C (p.Lys815Thr) c.2213A>C (p.Lys738Thr) n.2459A>C | |
11 | g.77179116A>G | CA381941045 | MYO7A | c.2354A>G (p.Lys785Arg) c.419A>G (p.Lys140Arg) c.195A>G c.2321A>G (p.Lys774Arg) c.2123A>G (p.Lys708Arg) c.2096A>G (p.Lys699Arg) n.2674A>G n.2676A>G c.2444A>G (p.Lys815Arg) c.2213A>G (p.Lys738Arg) n.2459A>G | gnomAD v4 |
11 | g.77179116A>T | CA381941046 | MYO7A | c.2354A>T (p.Lys785Met) c.419A>T (p.Lys140Met) c.195A>T c.2321A>T (p.Lys774Met) c.2123A>T (p.Lys708Met) c.2096A>T (p.Lys699Met) n.2674A>T n.2676A>T c.2444A>T (p.Lys815Met) c.2213A>T (p.Lys738Met) n.2459A>T | |
11 | g.77179116_77179117delinsAG | CA1984121073 | MYO7A | c.2354_2355delinsAG (p.Lys785=) c.419_420delinsAG (p.Lys140=) c.195_196delinsAG c.2321_2322delinsAG (p.Lys774=) c.2123_2124delinsAG (p.Lys708=) c.2096_2097delinsAG (p.Lys699=) n.2674_2675delinsAG n.2676_2677delinsAG c.2444_2445delinsAG (p.Lys815=) c.2213_2214delinsAG (p.Lys738=) n.2459_2460delinsAG | |
11 | g.77179117del | CA915948767 | MYO7A | c.2355del (p.Asn786ThrfsTer4) c.420del (p.Asn141ThrfsTer4) c.196del c.2322del (p.Asn775ThrfsTer4) c.2355del (p.Asn786ThrfsTer26) c.2124del (p.Asn709ThrfsTer4) c.2097del (p.Asn700ThrfsTer4) n.2675del n.2677del c.2445del (p.Asn816ThrfsTer4) c.2214del (p.Asn739ThrfsTer4) n.2460del | ClinVar dbSNP |
11 | g.77179117G>A | CA475794897 | MYO7A | c.2355G>A (p.Lys785=) c.420G>A (p.Lys140=) c.196G>A c.2322G>A (p.Lys774=) c.2124G>A (p.Lys708=) c.2097G>A (p.Lys699=) n.2675G>A n.2677G>A c.2445G>A (p.Lys815=) c.2214G>A (p.Lys738=) n.2460G>A | gnomAD v4 |
11 | g.77179117G>C | CA381941049 | MYO7A | c.2355G>C (p.Lys785Asn) c.420G>C (p.Lys140Asn) c.196G>C c.2322G>C (p.Lys774Asn) c.2124G>C (p.Lys708Asn) c.2097G>C (p.Lys699Asn) n.2675G>C n.2677G>C c.2445G>C (p.Lys815Asn) c.2214G>C (p.Lys738Asn) n.2460G>C | |
11 | g.77179117G>T | CA381941050 | MYO7A | c.2355G>T (p.Lys785Asn) c.420G>T (p.Lys140Asn) c.196G>T c.2322G>T (p.Lys774Asn) c.2124G>T (p.Lys708Asn) c.2097G>T (p.Lys699Asn) n.2675G>T n.2677G>T c.2445G>T (p.Lys815Asn) c.2214G>T (p.Lys738Asn) n.2460G>T | |
11 | g.77179118A>C | CA381941054 | MYO7A | c.2356A>C (p.Asn786His) c.421A>C (p.Asn141His) c.197A>C c.2323A>C (p.Asn775His) c.2125A>C (p.Asn709His) c.2098A>C (p.Asn700His) n.2676A>C n.2678A>C c.2446A>C (p.Asn816His) c.2215A>C (p.Asn739His) n.2461A>C | |
11 | g.77179118A>G | CA381941056 | MYO7A | c.2356A>G (p.Asn786Asp) c.421A>G (p.Asn141Asp) c.197A>G c.2323A>G (p.Asn775Asp) c.2125A>G (p.Asn709Asp) c.2098A>G (p.Asn700Asp) n.2676A>G n.2678A>G c.2446A>G (p.Asn816Asp) c.2215A>G (p.Asn739Asp) n.2461A>G | |
11 | g.77179118A>T | CA381941052 | MYO7A | c.2356A>T (p.Asn786Tyr) c.421A>T (p.Asn141Tyr) c.197A>T c.2323A>T (p.Asn775Tyr) c.2125A>T (p.Asn709Tyr) c.2098A>T (p.Asn700Tyr) n.2676A>T n.2678A>T c.2446A>T (p.Asn816Tyr) c.2215A>T (p.Asn739Tyr) n.2461A>T | |
11 | g.77179119A>C | CA381941061 | MYO7A | c.2357A>C (p.Asn786Thr) c.422A>C (p.Asn141Thr) c.198A>C c.2324A>C (p.Asn775Thr) c.2126A>C (p.Asn709Thr) c.2099A>C (p.Asn700Thr) n.2677A>C n.2679A>C c.2447A>C (p.Asn816Thr) c.2216A>C (p.Asn739Thr) n.2462A>C | |
11 | g.77179119A>G | CA381941057 | MYO7A | c.2357A>G (p.Asn786Ser) c.422A>G (p.Asn141Ser) c.198A>G c.2324A>G (p.Asn775Ser) c.2126A>G (p.Asn709Ser) c.2099A>G (p.Asn700Ser) n.2677A>G n.2679A>G c.2447A>G (p.Asn816Ser) c.2216A>G (p.Asn739Ser) n.2462A>G | |
11 | g.77179119A>T | CA381941059 | MYO7A | c.2357A>T (p.Asn786Ile) c.422A>T (p.Asn141Ile) c.198A>T c.2324A>T (p.Asn775Ile) c.2126A>T (p.Asn709Ile) c.2099A>T (p.Asn700Ile) n.2677A>T n.2679A>T c.2447A>T (p.Asn816Ile) c.2216A>T (p.Asn739Ile) n.2462A>T | |
11 | g.77179120C>A | CA381941063 | MYO7A | c.2358C>A (p.Asn786Lys) c.423C>A (p.Asn141Lys) c.199C>A c.2325C>A (p.Asn775Lys) c.2127C>A (p.Asn709Lys) c.2100C>A (p.Asn700Lys) n.2678C>A n.2680C>A c.2448C>A (p.Asn816Lys) c.2217C>A (p.Asn739Lys) n.2463C>A | gnomAD v4 |
11 | g.77179120C>G | CA381941064 | MYO7A | c.2358C>G (p.Asn786Lys) c.423C>G (p.Asn141Lys) c.199C>G c.2325C>G (p.Asn775Lys) c.2127C>G (p.Asn709Lys) c.2100C>G (p.Asn700Lys) n.2678C>G n.2680C>G c.2448C>G (p.Asn816Lys) c.2217C>G (p.Asn739Lys) n.2463C>G | |
11 | g.77179120C>T | CA475794898 | MYO7A | c.2358C>T (p.Asn786=) c.423C>T (p.Asn141=) c.199C>T c.2325C>T (p.Asn775=) c.2127C>T (p.Asn709=) c.2100C>T (p.Asn700=) n.2678C>T n.2680C>T c.2448C>T (p.Asn816=) c.2217C>T (p.Asn739=) n.2463C>T | |
11 | g.77179121T>A | CA381941067 | MYO7A | c.2359T>A (p.Tyr787Asn) c.424T>A (p.Tyr142Asn) c.200T>A c.2326T>A (p.Tyr776Asn) c.2128T>A (p.Tyr710Asn) c.2101T>A (p.Tyr701Asn) n.2679T>A n.2681T>A c.2449T>A (p.Tyr817Asn) c.2218T>A (p.Tyr740Asn) n.2464T>A | |
11 | g.77179121T>C | CA381941069 | MYO7A | c.2359T>C (p.Tyr787His) c.424T>C (p.Tyr142His) c.200T>C c.2326T>C (p.Tyr776His) c.2128T>C (p.Tyr710His) c.2101T>C (p.Tyr701His) n.2679T>C n.2681T>C c.2449T>C (p.Tyr817His) c.2218T>C (p.Tyr740His) n.2464T>C | |
11 | g.77179121T>G | CA381941070 | MYO7A | c.2359T>G (p.Tyr787Asp) c.424T>G (p.Tyr142Asp) c.200T>G c.2326T>G (p.Tyr776Asp) c.2128T>G (p.Tyr710Asp) c.2101T>G (p.Tyr701Asp) n.2679T>G n.2681T>G c.2449T>G (p.Tyr817Asp) c.2218T>G (p.Tyr740Asp) n.2464T>G | |
11 | g.77179122A= | CA1984121084 | MYO7A | c.2360A= (p.Tyr787=) c.425A= (p.Tyr142=) c.201A= c.2327A= (p.Tyr776=) c.2129A= (p.Tyr710=) c.2102A= (p.Tyr701=) n.2680A= n.2682A= c.2450A= (p.Tyr817=) c.2219A= (p.Tyr740=) n.2465A= | |
11 | g.77179122A>C | CA381941073 | MYO7A | c.2360A>C (p.Tyr787Ser) c.425A>C (p.Tyr142Ser) c.201A>C c.2327A>C (p.Tyr776Ser) c.2129A>C (p.Tyr710Ser) c.2102A>C (p.Tyr701Ser) n.2680A>C n.2682A>C c.2450A>C (p.Tyr817Ser) c.2219A>C (p.Tyr740Ser) n.2465A>C | |
11 | g.77179122A>G | CA381941074 | MYO7A | c.2360A>G (p.Tyr787Cys) c.425A>G (p.Tyr142Cys) c.201A>G c.2327A>G (p.Tyr776Cys) c.2129A>G (p.Tyr710Cys) c.2102A>G (p.Tyr701Cys) n.2680A>G n.2682A>G c.2450A>G (p.Tyr817Cys) c.2219A>G (p.Tyr740Cys) n.2465A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77179122A>T | CA381941076 | MYO7A | c.2360A>T (p.Tyr787Phe) c.425A>T (p.Tyr142Phe) c.201A>T c.2327A>T (p.Tyr776Phe) c.2129A>T (p.Tyr710Phe) c.2102A>T (p.Tyr701Phe) n.2680A>T n.2682A>T c.2450A>T (p.Tyr817Phe) c.2219A>T (p.Tyr740Phe) n.2465A>T | |
11 | g.77179123C>A | CA381941077 | MYO7A | c.2361C>A (p.Tyr787Ter) c.426C>A (p.Tyr142Ter) c.202C>A c.2328C>A (p.Tyr776Ter) c.2130C>A (p.Tyr710Ter) c.2103C>A (p.Tyr701Ter) n.2681C>A n.2683C>A c.2451C>A (p.Tyr817Ter) c.2220C>A (p.Tyr740Ter) n.2466C>A | ClinVar dbSNP |
11 | g.77179123C= | CA1984121091 | MYO7A | c.2361C= (p.Tyr787=) c.426C= (p.Tyr142=) c.202C= c.2328C= (p.Tyr776=) c.2130C= (p.Tyr710=) c.2103C= (p.Tyr701=) n.2681C= n.2683C= c.2451C= (p.Tyr817=) c.2220C= (p.Tyr740=) n.2466C= | |
11 | g.77179123C>G | CA381941079 | MYO7A | c.2361C>G (p.Tyr787Ter) c.426C>G (p.Tyr142Ter) c.202C>G c.2328C>G (p.Tyr776Ter) c.2130C>G (p.Tyr710Ter) c.2103C>G (p.Tyr701Ter) n.2681C>G n.2683C>G c.2451C>G (p.Tyr817Ter) c.2220C>G (p.Tyr740Ter) n.2466C>G | |
11 | g.77179123C>T | CA475794899 | MYO7A | c.2361C>T (p.Tyr787=) c.426C>T (p.Tyr142=) c.202C>T c.2328C>T (p.Tyr776=) c.2130C>T (p.Tyr710=) c.2103C>T (p.Tyr701=) n.2681C>T n.2683C>T c.2451C>T (p.Tyr817=) c.2220C>T (p.Tyr740=) n.2466C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77179124G>A | CA381941084 | MYO7A | c.2362G>A (p.Gly788Arg) c.427G>A (p.Gly143Arg) c.203G>A c.2329G>A (p.Gly777Arg) c.2131G>A (p.Gly711Arg) c.2104G>A (p.Gly702Arg) n.2682G>A n.2684G>A c.2452G>A (p.Gly818Arg) c.2221G>A (p.Gly741Arg) n.2467G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77179124G>C | CA381941081 | MYO7A | c.2362G>C (p.Gly788Arg) c.427G>C (p.Gly143Arg) c.203G>C c.2329G>C (p.Gly777Arg) c.2131G>C (p.Gly711Arg) c.2104G>C (p.Gly702Arg) n.2682G>C n.2684G>C c.2452G>C (p.Gly818Arg) c.2221G>C (p.Gly741Arg) n.2467G>C | |
11 | g.77179124G= | CA1984121096 | MYO7A | c.2362G= (p.Gly788=) c.427G= (p.Gly143=) c.203G= c.2329G= (p.Gly777=) c.2131G= (p.Gly711=) c.2104G= (p.Gly702=) n.2682G= n.2684G= c.2452G= (p.Gly818=) c.2221G= (p.Gly741=) n.2467G= | |
11 | g.77179124G>T | CA381941082 | MYO7A | c.2362G>T (p.Gly788Trp) c.427G>T (p.Gly143Trp) c.203G>T c.2329G>T (p.Gly777Trp) c.2131G>T (p.Gly711Trp) c.2104G>T (p.Gly702Trp) n.2682G>T n.2684G>T c.2452G>T (p.Gly818Trp) c.2221G>T (p.Gly741Trp) n.2467G>T | gnomAD v4 |
11 | g.77179125G>A | CA381941085 | MYO7A | c.2363G>A (p.Gly788Glu) c.428G>A (p.Gly143Glu) c.204G>A c.2330G>A (p.Gly777Glu) c.2132G>A (p.Gly711Glu) c.2105G>A (p.Gly702Glu) n.2683G>A n.2685G>A c.2453G>A (p.Gly818Glu) c.2222G>A (p.Gly741Glu) n.2468G>A | ClinVar dbSNP |
11 | g.77179125G>C | CA381941087 | MYO7A | c.2363G>C (p.Gly788Ala) c.428G>C (p.Gly143Ala) c.204G>C c.2330G>C (p.Gly777Ala) c.2132G>C (p.Gly711Ala) c.2105G>C (p.Gly702Ala) n.2683G>C n.2685G>C c.2453G>C (p.Gly818Ala) c.2222G>C (p.Gly741Ala) n.2468G>C | |
11 | g.77179125G= | CA1984121105 | MYO7A | c.2363G= (p.Gly788=) c.428G= (p.Gly143=) c.204G= c.2330G= (p.Gly777=) c.2132G= (p.Gly711=) c.2105G= (p.Gly702=) n.2683G= n.2685G= c.2453G= (p.Gly818=) c.2222G= (p.Gly741=) n.2468G= | |
11 | g.77179125G>T | CA381941089 | MYO7A | c.2363G>T (p.Gly788Val) c.428G>T (p.Gly143Val) c.204G>T c.2330G>T (p.Gly777Val) c.2132G>T (p.Gly711Val) c.2105G>T (p.Gly702Val) n.2683G>T n.2685G>T c.2453G>T (p.Gly818Val) c.2222G>T (p.Gly741Val) n.2468G>T | |
11 | g.77179126G>A | CA475794900 | MYO7A | c.2364G>A (p.Gly788=) c.429G>A (p.Gly143=) c.205G>A c.2331G>A (p.Gly777=) c.2133G>A (p.Gly711=) c.2106G>A (p.Gly702=) n.2684G>A n.2686G>A c.2454G>A (p.Gly818=) c.2223G>A (p.Gly741=) n.2469G>A | |
11 | g.77179126G>C | CA475794901 | MYO7A | c.2364G>C (p.Gly788=) c.429G>C (p.Gly143=) c.205G>C c.2331G>C (p.Gly777=) c.2133G>C (p.Gly711=) c.2106G>C (p.Gly702=) n.2684G>C n.2686G>C c.2454G>C (p.Gly818=) c.2223G>C (p.Gly741=) n.2469G>C | |
11 | g.77179126G>T | CA475794902 | MYO7A | c.2364G>T (p.Gly788=) c.429G>T (p.Gly143=) c.205G>T c.2331G>T (p.Gly777=) c.2133G>T (p.Gly711=) c.2106G>T (p.Gly702=) n.2684G>T n.2686G>T c.2454G>T (p.Gly818=) c.2223G>T (p.Gly741=) n.2469G>T | gnomAD v4 |
11 | g.77179127C>A | CA381941090 | MYO7A | c.2365C>A (p.Leu789Met) c.430C>A (p.Leu144Met) c.206C>A c.2332C>A (p.Leu778Met) c.2134C>A (p.Leu712Met) c.2107C>A (p.Leu703Met) n.2685C>A n.2687C>A c.2455C>A (p.Leu819Met) c.2224C>A (p.Leu742Met) n.2470C>A | |
11 | g.77179127C= | CA1984121110 | MYO7A | c.2365C= (p.Leu789=) c.430C= (p.Leu144=) c.206C= c.2332C= (p.Leu778=) c.2134C= (p.Leu712=) c.2107C= (p.Leu703=) n.2685C= n.2687C= c.2455C= (p.Leu819=) c.2224C= (p.Leu742=) n.2470C= | |
11 | g.77179127C>G | CA381941091 | MYO7A | c.2365C>G (p.Leu789Val) c.430C>G (p.Leu144Val) c.206C>G c.2332C>G (p.Leu778Val) c.2134C>G (p.Leu712Val) c.2107C>G (p.Leu703Val) n.2685C>G n.2687C>G c.2455C>G (p.Leu819Val) c.2224C>G (p.Leu742Val) n.2470C>G | |
11 | g.77179127C>T | CA6197814 | MYO7A | c.2365C>T (p.Leu789=) c.430C>T (p.Leu144=) c.206C>T c.2332C>T (p.Leu778=) c.2134C>T (p.Leu712=) c.2107C>T (p.Leu703=) n.2685C>T n.2687C>T c.2455C>T (p.Leu819=) c.2224C>T (p.Leu742=) n.2470C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77179128T>A | CA381941092 | MYO7A | c.2366T>A (p.Leu789Gln) c.431T>A (p.Leu144Gln) c.207T>A c.2333T>A (p.Leu778Gln) c.2135T>A (p.Leu712Gln) c.2108T>A (p.Leu703Gln) n.2686T>A n.2688T>A c.2456T>A (p.Leu819Gln) c.2225T>A (p.Leu742Gln) n.2471T>A | |
11 | g.77179128T>C | CA6197815 | MYO7A | c.2366T>C (p.Leu789Pro) c.431T>C (p.Leu144Pro) c.207T>C c.2333T>C (p.Leu778Pro) c.2135T>C (p.Leu712Pro) c.2108T>C (p.Leu703Pro) n.2686T>C n.2688T>C c.2456T>C (p.Leu819Pro) c.2225T>C (p.Leu742Pro) n.2471T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77179128T>G | CA381941094 | MYO7A | c.2366T>G (p.Leu789Arg) c.431T>G (p.Leu144Arg) c.207T>G c.2333T>G (p.Leu778Arg) c.2135T>G (p.Leu712Arg) c.2108T>G (p.Leu703Arg) n.2686T>G n.2688T>G c.2456T>G (p.Leu819Arg) c.2225T>G (p.Leu742Arg) n.2471T>G | |
11 | g.77179128T= | CA1984121116 | MYO7A | c.2366T= (p.Leu789=) c.431T= (p.Leu144=) c.207T= c.2333T= (p.Leu778=) c.2135T= (p.Leu712=) c.2108T= (p.Leu703=) n.2686T= n.2688T= c.2456T= (p.Leu819=) c.2225T= (p.Leu742=) n.2471T= | |
11 | g.77179129G>A | CA475794903 | MYO7A | c.2367G>A (p.Leu789=) c.432G>A (p.Leu144=) c.208G>A c.2334G>A (p.Leu778=) c.2136G>A (p.Leu712=) c.2109G>A (p.Leu703=) n.2687G>A n.2689G>A c.2457G>A (p.Leu819=) c.2226G>A (p.Leu742=) n.2472G>A | gnomAD v4 |
11 | g.77179129G>C | CA475794904 | MYO7A | c.2367G>C (p.Leu789=) c.432G>C (p.Leu144=) c.208G>C c.2334G>C (p.Leu778=) c.2136G>C (p.Leu712=) c.2109G>C (p.Leu703=) n.2687G>C n.2689G>C c.2457G>C (p.Leu819=) c.2226G>C (p.Leu742=) n.2472G>C | gnomAD v4 |
11 | g.77179129G>T | CA475794905 | MYO7A | c.2367G>T (p.Leu789=) c.432G>T (p.Leu144=) c.208G>T c.2334G>T (p.Leu778=) c.2136G>T (p.Leu712=) c.2109G>T (p.Leu703=) n.2687G>T n.2689G>T c.2457G>T (p.Leu819=) c.2226G>T (p.Leu742=) n.2472G>T | gnomAD v4 |
11 | g.77179130G>A | CA381941095 | MYO7A | c.2367+1G>A (n.2367+1G>A) c.432+1G>A (n.432+1G>A) c.208+1G>A c.2334+1G>A (n.2334+1G>A) c.2136+1G>A (n.2136+1G>A) c.2109+1G>A (n.2109+1G>A) n.2687+1G>A n.2689+1G>A c.2457+1G>A (n.2457+1G>A) c.2226+1G>A (n.2226+1G>A) n.2472+1G>A | ClinVar dbSNP gnomAD v4 |
11 | g.77179130G>C | CA381941097 | MYO7A | c.2367+1G>C (n.2367+1G>C) c.432+1G>C (n.432+1G>C) c.208+1G>C c.2334+1G>C (n.2334+1G>C) c.2136+1G>C (n.2136+1G>C) c.2109+1G>C (n.2109+1G>C) n.2687+1G>C n.2689+1G>C c.2457+1G>C (n.2457+1G>C) c.2226+1G>C (n.2226+1G>C) n.2472+1G>C | |
11 | g.77179130G>T | CA381941098 | MYO7A | c.2367+1G>T (n.2367+1G>T) c.432+1G>T (n.432+1G>T) c.208+1G>T c.2334+1G>T (n.2334+1G>T) c.2136+1G>T (n.2136+1G>T) c.2109+1G>T (n.2109+1G>T) n.2687+1G>T n.2689+1G>T c.2457+1G>T (n.2457+1G>T) c.2226+1G>T (n.2226+1G>T) n.2472+1G>T | |
11 | g.77179131T>A | CA381941102 | MYO7A | c.2367+2T>A (n.2367+2T>A) c.432+2T>A (n.432+2T>A) c.208+2T>A c.2334+2T>A (n.2334+2T>A) c.2136+2T>A (n.2136+2T>A) c.2109+2T>A (n.2109+2T>A) n.2687+2T>A n.2689+2T>A c.2457+2T>A (n.2457+2T>A) c.2226+2T>A (n.2226+2T>A) n.2472+2T>A | |
11 | g.77179131T>C | CA381941106 | MYO7A | c.2367+2T>C (n.2367+2T>C) c.432+2T>C (n.432+2T>C) c.208+2T>C c.2334+2T>C (n.2334+2T>C) c.2136+2T>C (n.2136+2T>C) c.2109+2T>C (n.2109+2T>C) n.2687+2T>C n.2689+2T>C c.2457+2T>C (n.2457+2T>C) c.2226+2T>C (n.2226+2T>C) n.2472+2T>C | |
11 | g.77179131T>G | CA381941101 | MYO7A | c.2367+2T>G (n.2367+2T>G) c.432+2T>G (n.432+2T>G) c.208+2T>G c.2334+2T>G (n.2334+2T>G) c.2136+2T>G (n.2136+2T>G) c.2109+2T>G (n.2109+2T>G) n.2687+2T>G n.2689+2T>G c.2457+2T>G (n.2457+2T>G) c.2226+2T>G (n.2226+2T>G) n.2472+2T>G | dbSNP |
11 | g.77179131T= | CA1984121120 | MYO7A | c.2367+2T= (n.2367+2T=) c.432+2T= (n.432+2T=) c.208+2T= c.2334+2T= (n.2334+2T=) c.2136+2T= (n.2136+2T=) c.2109+2T= (n.2109+2T=) n.2687+2T= n.2689+2T= c.2457+2T= (n.2457+2T=) c.2226+2T= (n.2226+2T=) n.2472+2T= | |
11 | g.77179132G>A | CA2615253895 | MYO7A | c.2367+3G>A (n.2367+3G>A) c.432+3G>A (n.432+3G>A) c.208+3G>A c.2334+3G>A (n.2334+3G>A) c.2136+3G>A (n.2136+3G>A) c.2109+3G>A (n.2109+3G>A) n.2687+3G>A n.2689+3G>A c.2457+3G>A (n.2457+3G>A) c.2226+3G>A (n.2226+3G>A) n.2472+3G>A | gnomAD v4 |
11 | g.77179132G= | CA1984121123 | MYO7A | c.2367+3G= (n.2367+3G=) c.432+3G= (n.432+3G=) c.208+3G= c.2334+3G= (n.2334+3G=) c.2136+3G= (n.2136+3G=) c.2109+3G= (n.2109+3G=) n.2687+3G= n.2689+3G= c.2457+3G= (n.2457+3G=) c.2226+3G= (n.2226+3G=) n.2472+3G= | |
11 | g.77179133_77179152dup | CA6197816 | MYO7A | c.2367+4_2367+23dup (n.2367+4_2367+23dup) c.432+4_432+23dup (n.432+4_432+23dup) c.208+4_208+23dup c.2334+4_2334+23dup (n.2334+4_2334+23dup) c.2136+4_2136+23dup (n.2136+4_2136+23dup) c.2109+4_2109+23dup (n.2109+4_2109+23dup) n.2687+4_2687+23dup n.2689+4_2689+23dup c.2457+4_2457+23dup (n.2457+4_2457+23dup) c.2226+4_2226+23dup (n.2226+4_2226+23dup) n.2472+4_2472+23dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77179134G>T | CA2615253913 | MYO7A | c.2367+5G>T (n.2367+5G>T) c.432+5G>T (n.432+5G>T) c.208+5G>T c.2334+5G>T (n.2334+5G>T) c.2136+5G>T (n.2136+5G>T) c.2109+5G>T (n.2109+5G>T) n.2687+5G>T n.2689+5G>T c.2457+5G>T (n.2457+5G>T) c.2226+5G>T (n.2226+5G>T) n.2472+5G>T | gnomAD v4 |
11 | g.77179135C>A | CA2615253916 | MYO7A | c.2367+6C>A (n.2367+6C>A) c.432+6C>A (n.432+6C>A) c.208+6C>A c.2334+6C>A (n.2334+6C>A) c.2136+6C>A (n.2136+6C>A) c.2109+6C>A (n.2109+6C>A) n.2687+6C>A n.2689+6C>A c.2457+6C>A (n.2457+6C>A) c.2226+6C>A (n.2226+6C>A) n.2472+6C>A | gnomAD v4 |
11 | g.77179135C>T | CA2615253935 | MYO7A | c.2367+6C>T (n.2367+6C>T) c.432+6C>T (n.432+6C>T) c.208+6C>T c.2334+6C>T (n.2334+6C>T) c.2136+6C>T (n.2136+6C>T) c.2109+6C>T (n.2109+6C>T) n.2687+6C>T n.2689+6C>T c.2457+6C>T (n.2457+6C>T) c.2226+6C>T (n.2226+6C>T) n.2472+6C>T | gnomAD v4 |
11 | g.77179137T>A | CA2615253939 | MYO7A | c.2367+8T>A (n.2367+8T>A) c.432+8T>A (n.432+8T>A) c.208+8T>A c.2334+8T>A (n.2334+8T>A) c.2136+8T>A (n.2136+8T>A) c.2109+8T>A (n.2109+8T>A) n.2687+8T>A n.2689+8T>A c.2457+8T>A (n.2457+8T>A) c.2226+8T>A (n.2226+8T>A) n.2472+8T>A | gnomAD v4 |
11 | g.77179138C>A | CA2615253950 | MYO7A | c.2367+9C>A (n.2367+9C>A) c.432+9C>A (n.432+9C>A) c.208+9C>A c.2334+9C>A (n.2334+9C>A) c.2136+9C>A (n.2136+9C>A) c.2109+9C>A (n.2109+9C>A) n.2687+9C>A n.2689+9C>A c.2457+9C>A (n.2457+9C>A) c.2226+9C>A (n.2226+9C>A) n.2472+9C>A | gnomAD v4 |
11 | g.77179138C= | CA1984121126 | MYO7A | c.2367+9C= (n.2367+9C=) c.432+9C= (n.432+9C=) c.208+9C= c.2334+9C= (n.2334+9C=) c.2136+9C= (n.2136+9C=) c.2109+9C= (n.2109+9C=) n.2687+9C= n.2689+9C= c.2457+9C= (n.2457+9C=) c.2226+9C= (n.2226+9C=) n.2472+9C= | |
11 | g.77179138C>T | CA600345617 | MYO7A | c.2367+9C>T (n.2367+9C>T) c.432+9C>T (n.432+9C>T) c.208+9C>T c.2334+9C>T (n.2334+9C>T) c.2136+9C>T (n.2136+9C>T) c.2109+9C>T (n.2109+9C>T) n.2687+9C>T n.2689+9C>T c.2457+9C>T (n.2457+9C>T) c.2226+9C>T (n.2226+9C>T) n.2472+9C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77179141del | CA2615253949 | MYO7A | c.2367+12del (n.2367+12del) c.432+12del (n.432+12del) c.208+12del c.2334+12del (n.2334+12del) c.2136+12del (n.2136+12del) c.2109+12del (n.2109+12del) n.2687+12del n.2689+12del c.2457+12del (n.2457+12del) c.2226+12del (n.2226+12del) n.2472+12del | gnomAD v4 |
11 | g.77179139C>A | CA2580084953 | MYO7A | c.2367+10C>A (n.2367+10C>A) c.432+10C>A (n.432+10C>A) c.208+10C>A c.2334+10C>A (n.2334+10C>A) c.2136+10C>A (n.2136+10C>A) c.2109+10C>A (n.2109+10C>A) n.2687+10C>A n.2689+10C>A c.2457+10C>A (n.2457+10C>A) c.2226+10C>A (n.2226+10C>A) n.2472+10C>A | ClinVar gnomAD v4 |
11 | g.77179140C>A | CA2531837249 | MYO7A | c.2367+11C>A (n.2367+11C>A) c.432+11C>A (n.432+11C>A) c.208+11C>A c.2334+11C>A (n.2334+11C>A) c.2136+11C>A (n.2136+11C>A) c.2109+11C>A (n.2109+11C>A) n.2687+11C>A n.2689+11C>A c.2457+11C>A (n.2457+11C>A) c.2226+11C>A (n.2226+11C>A) n.2472+11C>A | gnomAD v4 |
11 | g.77179140C>T | CA2724499771 | MYO7A | c.2367+11C>T (n.2367+11C>T) c.432+11C>T (n.432+11C>T) c.208+11C>T c.2334+11C>T (n.2334+11C>T) c.2136+11C>T (n.2136+11C>T) c.2109+11C>T (n.2109+11C>T) n.2687+11C>T n.2689+11C>T c.2457+11C>T (n.2457+11C>T) c.2226+11C>T (n.2226+11C>T) n.2472+11C>T | dbSNP |
11 | g.77179141C>A | CA2537846607 | MYO7A | c.2367+12C>A (n.2367+12C>A) c.432+12C>A (n.432+12C>A) c.208+12C>A c.2334+12C>A (n.2334+12C>A) c.2136+12C>A (n.2136+12C>A) c.2109+12C>A (n.2109+12C>A) n.2687+12C>A n.2689+12C>A c.2457+12C>A (n.2457+12C>A) c.2226+12C>A (n.2226+12C>A) n.2472+12C>A | ClinVar gnomAD v4 |
11 | g.77179142A= | CA1984121132 | MYO7A | c.2367+13A= (n.2367+13A=) c.432+13A= (n.432+13A=) c.208+13A= c.2334+13A= (n.2334+13A=) c.2136+13A= (n.2136+13A=) c.2109+13A= (n.2109+13A=) n.2687+13A= n.2689+13A= c.2457+13A= (n.2457+13A=) c.2226+13A= (n.2226+13A=) n.2472+13A= | |
11 | g.77179142A>C | CA1984121135 | MYO7A | c.2367+13A>C (n.2367+13A>C) c.432+13A>C (n.432+13A>C) c.208+13A>C c.2334+13A>C (n.2334+13A>C) c.2136+13A>C (n.2136+13A>C) c.2109+13A>C (n.2109+13A>C) n.2687+13A>C n.2689+13A>C c.2457+13A>C (n.2457+13A>C) c.2226+13A>C (n.2226+13A>C) n.2472+13A>C | ClinVar dbSNP |
11 | g.77179142A>G | CA2615253976 | MYO7A | c.2367+13A>G (n.2367+13A>G) c.432+13A>G (n.432+13A>G) c.208+13A>G c.2334+13A>G (n.2334+13A>G) c.2136+13A>G (n.2136+13A>G) c.2109+13A>G (n.2109+13A>G) n.2687+13A>G n.2689+13A>G c.2457+13A>G (n.2457+13A>G) c.2226+13A>G (n.2226+13A>G) n.2472+13A>G | gnomAD v4 |
11 | g.77179144G>A | CA600345618 | MYO7A | c.2367+15G>A (n.2367+15G>A) c.432+15G>A (n.432+15G>A) c.208+15G>A c.2334+15G>A (n.2334+15G>A) c.2136+15G>A (n.2136+15G>A) c.2109+15G>A (n.2109+15G>A) n.2687+15G>A n.2689+15G>A c.2457+15G>A (n.2457+15G>A) c.2226+15G>A (n.2226+15G>A) n.2472+15G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.77179144G= | CA1984121136 | MYO7A | c.2367+15G= (n.2367+15G=) c.432+15G= (n.432+15G=) c.208+15G= c.2334+15G= (n.2334+15G=) c.2136+15G= (n.2136+15G=) c.2109+15G= (n.2109+15G=) n.2687+15G= n.2689+15G= c.2457+15G= (n.2457+15G=) c.2226+15G= (n.2226+15G=) n.2472+15G= | |
11 | g.77179144G>T | CA2615253983 | MYO7A | c.2367+15G>T (n.2367+15G>T) c.432+15G>T (n.432+15G>T) c.208+15G>T c.2334+15G>T (n.2334+15G>T) c.2136+15G>T (n.2136+15G>T) c.2109+15G>T (n.2109+15G>T) n.2687+15G>T n.2689+15G>T c.2457+15G>T (n.2457+15G>T) c.2226+15G>T (n.2226+15G>T) n.2472+15G>T | gnomAD v4 |
11 | g.77179145G>T | CA2615253987 | MYO7A | c.2367+16G>T (n.2367+16G>T) c.432+16G>T (n.432+16G>T) c.208+16G>T c.2334+16G>T (n.2334+16G>T) c.2136+16G>T (n.2136+16G>T) c.2109+16G>T (n.2109+16G>T) n.2687+16G>T n.2689+16G>T c.2457+16G>T (n.2457+16G>T) c.2226+16G>T (n.2226+16G>T) n.2472+16G>T | gnomAD v4 |
11 | g.77179146G>A | CA2615253989 | MYO7A | c.2367+17G>A (n.2367+17G>A) c.432+17G>A (n.432+17G>A) c.208+17G>A c.2334+17G>A (n.2334+17G>A) c.2136+17G>A (n.2136+17G>A) c.2109+17G>A (n.2109+17G>A) n.2687+17G>A n.2689+17G>A c.2457+17G>A (n.2457+17G>A) c.2226+17G>A (n.2226+17G>A) n.2472+17G>A | ClinVar gnomAD v4 |
11 | g.77179147C>A | CA2615253991 | MYO7A | c.2367+18C>A (n.2367+18C>A) c.432+18C>A (n.432+18C>A) c.208+18C>A c.2334+18C>A (n.2334+18C>A) c.2136+18C>A (n.2136+18C>A) c.2109+18C>A (n.2109+18C>A) n.2687+18C>A n.2689+18C>A c.2457+18C>A (n.2457+18C>A) c.2226+18C>A (n.2226+18C>A) n.2472+18C>A | gnomAD v4 |
11 | g.77179147C>T | CA2574931034 | MYO7A | c.2367+18C>T (n.2367+18C>T) c.432+18C>T (n.432+18C>T) c.208+18C>T c.2334+18C>T (n.2334+18C>T) c.2136+18C>T (n.2136+18C>T) c.2109+18C>T (n.2109+18C>T) n.2687+18C>T n.2689+18C>T c.2457+18C>T (n.2457+18C>T) c.2226+18C>T (n.2226+18C>T) n.2472+18C>T | gnomAD v4 |
11 | g.77179148del | CA2792784196 | MYO7A | c.2367+19del (n.2367+19del) c.432+19del (n.432+19del) c.208+19del c.2334+19del (n.2334+19del) c.2136+19del (n.2136+19del) c.2109+19del (n.2109+19del) n.2687+19del n.2689+19del c.2457+19del (n.2457+19del) c.2226+19del (n.2226+19del) n.2472+19del | |
11 | g.77179148T>C | CA680368570 | MYO7A | c.2367+19T>C (n.2367+19T>C) c.432+19T>C (n.432+19T>C) c.208+19T>C c.2334+19T>C (n.2334+19T>C) c.2136+19T>C (n.2136+19T>C) c.2109+19T>C (n.2109+19T>C) n.2687+19T>C n.2689+19T>C c.2457+19T>C (n.2457+19T>C) c.2226+19T>C (n.2226+19T>C) n.2472+19T>C | ClinVar dbSNP |
11 | g.77179148T= | CA1984121137 | MYO7A | c.2367+19T= (n.2367+19T=) c.432+19T= (n.432+19T=) c.208+19T= c.2334+19T= (n.2334+19T=) c.2136+19T= (n.2136+19T=) c.2109+19T= (n.2109+19T=) n.2687+19T= n.2689+19T= c.2457+19T= (n.2457+19T=) c.2226+19T= (n.2226+19T=) n.2472+19T= | |
11 | g.77179149G>A | CA2615253994 | MYO7A | c.2367+20G>A (n.2367+20G>A) c.432+20G>A (n.432+20G>A) c.208+20G>A c.2334+20G>A (n.2334+20G>A) c.2136+20G>A (n.2136+20G>A) c.2109+20G>A (n.2109+20G>A) n.2687+20G>A n.2689+20G>A c.2457+20G>A (n.2457+20G>A) c.2226+20G>A (n.2226+20G>A) n.2472+20G>A | gnomAD v4 |
11 | g.77179150C>A | CA2574931035 | MYO7A | c.2367+21C>A (n.2367+21C>A) c.432+21C>A (n.432+21C>A) c.208+21C>A c.2334+21C>A (n.2334+21C>A) c.2136+21C>A (n.2136+21C>A) c.2109+21C>A (n.2109+21C>A) n.2687+21C>A n.2689+21C>A c.2457+21C>A (n.2457+21C>A) c.2226+21C>A (n.2226+21C>A) n.2472+21C>A | |
11 | g.77179150_77179151delinsCT | CA1984121138 | MYO7A | c.2367+21_2367+22delinsCT (n.2367+21_2367+22delinsCT) c.432+21_432+22delinsCT (n.432+21_432+22delinsCT) c.208+21_208+22delinsCT c.2334+21_2334+22delinsCT (n.2334+21_2334+22delinsCT) c.2136+21_2136+22delinsCT (n.2136+21_2136+22delinsCT) c.2109+21_2109+22delinsCT (n.2109+21_2109+22delinsCT) n.2687+21_2687+22delinsCT n.2689+21_2689+22delinsCT c.2457+21_2457+22delinsCT (n.2457+21_2457+22delinsCT) c.2226+21_2226+22delinsCT (n.2226+21_2226+22delinsCT) n.2472+21_2472+22delinsCT | |
11 | g.77179151del | CA600345619 | MYO7A | c.2367+22del (n.2367+22del) c.432+22del (n.432+22del) c.208+22del c.2334+22del (n.2334+22del) c.2136+22del (n.2136+22del) c.2109+22del (n.2109+22del) n.2687+22del n.2689+22del c.2457+22del (n.2457+22del) c.2226+22del (n.2226+22del) n.2472+22del | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77179151T>C | CA6197817 | MYO7A | c.2367+22T>C (n.2367+22T>C) c.432+22T>C (n.432+22T>C) c.208+22T>C c.2334+22T>C (n.2334+22T>C) c.2136+22T>C (n.2136+22T>C) c.2109+22T>C (n.2109+22T>C) n.2687+22T>C n.2689+22T>C c.2457+22T>C (n.2457+22T>C) c.2226+22T>C (n.2226+22T>C) n.2472+22T>C | dbSNP ExAC gnomAD v2 |
11 | g.77179151T= | CA1984121142 | MYO7A | c.2367+22T= (n.2367+22T=) c.432+22T= (n.432+22T=) c.208+22T= c.2334+22T= (n.2334+22T=) c.2136+22T= (n.2136+22T=) c.2109+22T= (n.2109+22T=) n.2687+22T= n.2689+22T= c.2457+22T= (n.2457+22T=) c.2226+22T= (n.2226+22T=) n.2472+22T= | |
11 | g.77179152C>A | CA2574931036 | MYO7A | c.2367+23C>A (n.2367+23C>A) c.432+23C>A (n.432+23C>A) c.208+23C>A c.2334+23C>A (n.2334+23C>A) c.2136+23C>A (n.2136+23C>A) c.2109+23C>A (n.2109+23C>A) n.2687+23C>A n.2689+23C>A c.2457+23C>A (n.2457+23C>A) c.2226+23C>A (n.2226+23C>A) n.2472+23C>A | gnomAD v4 |
11 | g.77179152C= | CA1984121144 | MYO7A | c.2367+23C= (n.2367+23C=) c.432+23C= (n.432+23C=) c.208+23C= c.2334+23C= (n.2334+23C=) c.2136+23C= (n.2136+23C=) c.2109+23C= (n.2109+23C=) n.2687+23C= n.2689+23C= c.2457+23C= (n.2457+23C=) c.2226+23C= (n.2226+23C=) n.2472+23C= | |
11 | g.77179152C>G | CA224840804 | MYO7A | c.2367+23C>G (n.2367+23C>G) c.432+23C>G (n.432+23C>G) c.208+23C>G c.2334+23C>G (n.2334+23C>G) c.2136+23C>G (n.2136+23C>G) c.2109+23C>G (n.2109+23C>G) n.2687+23C>G n.2689+23C>G c.2457+23C>G (n.2457+23C>G) c.2226+23C>G (n.2226+23C>G) n.2472+23C>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77179152C>T | CA600345620 | MYO7A | c.2367+23C>T (n.2367+23C>T) c.432+23C>T (n.432+23C>T) c.208+23C>T c.2334+23C>T (n.2334+23C>T) c.2136+23C>T (n.2136+23C>T) c.2109+23C>T (n.2109+23C>T) n.2687+23C>T n.2689+23C>T c.2457+23C>T (n.2457+23C>T) c.2226+23C>T (n.2226+23C>T) n.2472+23C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77179155G>A | CA680368578 | MYO7A | c.2367+26G>A (n.2367+26G>A) c.432+26G>A (n.432+26G>A) c.208+26G>A c.2334+26G>A (n.2334+26G>A) c.2136+26G>A (n.2136+26G>A) c.2109+26G>A (n.2109+26G>A) n.2687+26G>A n.2689+26G>A c.2457+26G>A (n.2457+26G>A) c.2226+26G>A (n.2226+26G>A) n.2472+26G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.77179155G>C | CA2615254005 | MYO7A | c.2367+26G>C (n.2367+26G>C) c.432+26G>C (n.432+26G>C) c.208+26G>C c.2334+26G>C (n.2334+26G>C) c.2136+26G>C (n.2136+26G>C) c.2109+26G>C (n.2109+26G>C) n.2687+26G>C n.2689+26G>C c.2457+26G>C (n.2457+26G>C) c.2226+26G>C (n.2226+26G>C) n.2472+26G>C | gnomAD v4 |
11 | g.77179155G= | CA1984121148 | MYO7A | c.2367+26G= (n.2367+26G=) c.432+26G= (n.432+26G=) c.208+26G= c.2334+26G= (n.2334+26G=) c.2136+26G= (n.2136+26G=) c.2109+26G= (n.2109+26G=) n.2687+26G= n.2689+26G= c.2457+26G= (n.2457+26G=) c.2226+26G= (n.2226+26G=) n.2472+26G= | |
11 | g.77179155G>T | CA2615254008 | MYO7A | c.2367+26G>T (n.2367+26G>T) c.432+26G>T (n.432+26G>T) c.208+26G>T c.2334+26G>T (n.2334+26G>T) c.2136+26G>T (n.2136+26G>T) c.2109+26G>T (n.2109+26G>T) n.2687+26G>T n.2689+26G>T c.2457+26G>T (n.2457+26G>T) c.2226+26G>T (n.2226+26G>T) n.2472+26G>T | gnomAD v4 |
11 | g.77179156C>A | CA680368584 | MYO7A | c.2367+27C>A (n.2367+27C>A) c.432+27C>A (n.432+27C>A) c.208+27C>A c.2334+27C>A (n.2334+27C>A) c.2136+27C>A (n.2136+27C>A) c.2109+27C>A (n.2109+27C>A) n.2687+27C>A n.2689+27C>A c.2457+27C>A (n.2457+27C>A) c.2226+27C>A (n.2226+27C>A) n.2472+27C>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.77179156C= | CA1984121152 | MYO7A | c.2367+27C= (n.2367+27C=) c.432+27C= (n.432+27C=) c.208+27C= c.2334+27C= (n.2334+27C=) c.2136+27C= (n.2136+27C=) c.2109+27C= (n.2109+27C=) n.2687+27C= n.2689+27C= c.2457+27C= (n.2457+27C=) c.2226+27C= (n.2226+27C=) n.2472+27C= | |
11 | g.77179156C>T | CA475794906 | MYO7A | c.2367+27C>T (n.2367+27C>T) c.432+27C>T (n.432+27C>T) c.208+27C>T c.2334+27C>T (n.2334+27C>T) c.2136+27C>T (n.2136+27C>T) c.2109+27C>T (n.2109+27C>T) n.2687+27C>T n.2689+27C>T c.2457+27C>T (n.2457+27C>T) c.2226+27C>T (n.2226+27C>T) n.2472+27C>T | dbSNP gnomAD v4 |
11 | g.77179157C>A | CA2615254018 | MYO7A | c.2367+28C>A (n.2367+28C>A) c.432+28C>A (n.432+28C>A) c.208+28C>A c.2334+28C>A (n.2334+28C>A) c.2136+28C>A (n.2136+28C>A) c.2109+28C>A (n.2109+28C>A) n.2687+28C>A n.2689+28C>A c.2457+28C>A (n.2457+28C>A) c.2226+28C>A (n.2226+28C>A) n.2472+28C>A | gnomAD v4 |
11 | g.77179157C= | CA1984121153 | MYO7A | c.2367+28C= (n.2367+28C=) c.432+28C= (n.432+28C=) c.208+28C= c.2334+28C= (n.2334+28C=) c.2136+28C= (n.2136+28C=) c.2109+28C= (n.2109+28C=) n.2687+28C= n.2689+28C= c.2457+28C= (n.2457+28C=) c.2226+28C= (n.2226+28C=) n.2472+28C= | |
11 | g.77179157C>G | CA1984121154 | MYO7A | c.2367+28C>G (n.2367+28C>G) c.432+28C>G (n.432+28C>G) c.208+28C>G c.2334+28C>G (n.2334+28C>G) c.2136+28C>G (n.2136+28C>G) c.2109+28C>G (n.2109+28C>G) n.2687+28C>G n.2689+28C>G c.2457+28C>G (n.2457+28C>G) c.2226+28C>G (n.2226+28C>G) n.2472+28C>G | dbSNP |
11 | g.77179157C>T | CA6197818 | MYO7A | c.2367+28C>T (n.2367+28C>T) c.432+28C>T (n.432+28C>T) c.208+28C>T c.2334+28C>T (n.2334+28C>T) c.2136+28C>T (n.2136+28C>T) c.2109+28C>T (n.2109+28C>T) n.2687+28C>T n.2689+28C>T c.2457+28C>T (n.2457+28C>T) c.2226+28C>T (n.2226+28C>T) n.2472+28C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77179158C>A | CA2574931037 | MYO7A | c.2367+29C>A (n.2367+29C>A) c.432+29C>A (n.432+29C>A) c.208+29C>A c.2334+29C>A (n.2334+29C>A) c.2136+29C>A (n.2136+29C>A) c.2109+29C>A (n.2109+29C>A) n.2687+29C>A n.2689+29C>A c.2457+29C>A (n.2457+29C>A) c.2226+29C>A (n.2226+29C>A) n.2472+29C>A | gnomAD v4 |
11 | g.77179159A= | CA1984121156 | MYO7A | c.2367+30A= (n.2367+30A=) c.432+30A= (n.432+30A=) c.208+30A= c.2334+30A= (n.2334+30A=) c.2136+30A= (n.2136+30A=) c.2109+30A= (n.2109+30A=) n.2687+30A= n.2689+30A= c.2457+30A= (n.2457+30A=) c.2226+30A= (n.2226+30A=) n.2472+30A= | |
11 | g.77179159A>C | CA1984121157 | MYO7A | c.2367+30A>C (n.2367+30A>C) c.432+30A>C (n.432+30A>C) c.208+30A>C c.2334+30A>C (n.2334+30A>C) c.2136+30A>C (n.2136+30A>C) c.2109+30A>C (n.2109+30A>C) n.2687+30A>C n.2689+30A>C c.2457+30A>C (n.2457+30A>C) c.2226+30A>C (n.2226+30A>C) n.2472+30A>C | dbSNP gnomAD v4 |
11 | g.77179159A>T | CA600345621 | MYO7A | c.2367+30A>T (n.2367+30A>T) c.432+30A>T (n.432+30A>T) c.208+30A>T c.2334+30A>T (n.2334+30A>T) c.2136+30A>T (n.2136+30A>T) c.2109+30A>T (n.2109+30A>T) n.2687+30A>T n.2689+30A>T c.2457+30A>T (n.2457+30A>T) c.2226+30A>T (n.2226+30A>T) n.2472+30A>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77179162C>A | CA2615254028 | MYO7A | c.2367+33C>A (n.2367+33C>A) c.432+33C>A (n.432+33C>A) c.208+33C>A c.2334+33C>A (n.2334+33C>A) c.2136+33C>A (n.2136+33C>A) c.2109+33C>A (n.2109+33C>A) n.2687+33C>A n.2689+33C>A c.2457+33C>A (n.2457+33C>A) c.2226+33C>A (n.2226+33C>A) n.2472+33C>A | gnomAD v4 |
11 | g.77179162C= | CA1984121159 | MYO7A | c.2367+33C= (n.2367+33C=) c.432+33C= (n.432+33C=) c.208+33C= c.2334+33C= (n.2334+33C=) c.2136+33C= (n.2136+33C=) c.2109+33C= (n.2109+33C=) n.2687+33C= n.2689+33C= c.2457+33C= (n.2457+33C=) c.2226+33C= (n.2226+33C=) n.2472+33C= | |
11 | g.77179162C>G | CA2615254026 | MYO7A | c.2367+33C>G (n.2367+33C>G) c.432+33C>G (n.432+33C>G) c.208+33C>G c.2334+33C>G (n.2334+33C>G) c.2136+33C>G (n.2136+33C>G) c.2109+33C>G (n.2109+33C>G) n.2687+33C>G n.2689+33C>G c.2457+33C>G (n.2457+33C>G) c.2226+33C>G (n.2226+33C>G) n.2472+33C>G | gnomAD v4 |
11 | g.77179162C>T | CA1984121161 | MYO7A | c.2367+33C>T (n.2367+33C>T) c.432+33C>T (n.432+33C>T) c.208+33C>T c.2334+33C>T (n.2334+33C>T) c.2136+33C>T (n.2136+33C>T) c.2109+33C>T (n.2109+33C>T) n.2687+33C>T n.2689+33C>T c.2457+33C>T (n.2457+33C>T) c.2226+33C>T (n.2226+33C>T) n.2472+33C>T | dbSNP gnomAD v4 |
11 | g.77179163A>G | CA2615254030 | MYO7A | c.2367+34A>G (n.2367+34A>G) c.432+34A>G (n.432+34A>G) c.208+34A>G c.2334+34A>G (n.2334+34A>G) c.2136+34A>G (n.2136+34A>G) c.2109+34A>G (n.2109+34A>G) n.2687+34A>G n.2689+34A>G c.2457+34A>G (n.2457+34A>G) c.2226+34A>G (n.2226+34A>G) n.2472+34A>G | gnomAD v4 |
11 | g.77179164G>A | CA6197819 | MYO7A | c.2367+35G>A (n.2367+35G>A) c.432+35G>A (n.432+35G>A) c.208+35G>A c.2334+35G>A (n.2334+35G>A) c.2136+35G>A (n.2136+35G>A) c.2109+35G>A (n.2109+35G>A) n.2687+35G>A n.2689+35G>A c.2457+35G>A (n.2457+35G>A) c.2226+35G>A (n.2226+35G>A) n.2472+35G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77179164G= | CA1984121172 | MYO7A | c.2367+35G= (n.2367+35G=) c.432+35G= (n.432+35G=) c.208+35G= c.2334+35G= (n.2334+35G=) c.2136+35G= (n.2136+35G=) c.2109+35G= (n.2109+35G=) n.2687+35G= n.2689+35G= c.2457+35G= (n.2457+35G=) c.2226+35G= (n.2226+35G=) n.2472+35G= | |
11 | g.77179165G>A | CA680368588 | MYO7A | c.2367+36G>A (n.2367+36G>A) c.432+36G>A (n.432+36G>A) c.208+36G>A c.2334+36G>A (n.2334+36G>A) c.2136+36G>A (n.2136+36G>A) c.2109+36G>A (n.2109+36G>A) n.2687+36G>A n.2689+36G>A c.2457+36G>A (n.2457+36G>A) c.2226+36G>A (n.2226+36G>A) n.2472+36G>A | dbSNP gnomAD v4 |
11 | g.77179165G= | CA1984121173 | MYO7A | c.2367+36G= (n.2367+36G=) c.432+36G= (n.432+36G=) c.208+36G= c.2334+36G= (n.2334+36G=) c.2136+36G= (n.2136+36G=) c.2109+36G= (n.2109+36G=) n.2687+36G= n.2689+36G= c.2457+36G= (n.2457+36G=) c.2226+36G= (n.2226+36G=) n.2472+36G= | |
11 | g.77179166C>A | CA6197820 | MYO7A | c.2367+37C>A (n.2367+37C>A) c.432+37C>A (n.432+37C>A) c.208+37C>A c.2334+37C>A (n.2334+37C>A) c.2136+37C>A (n.2136+37C>A) c.2109+37C>A (n.2109+37C>A) n.2687+37C>A n.2689+37C>A c.2457+37C>A (n.2457+37C>A) c.2226+37C>A (n.2226+37C>A) n.2472+37C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77179166C= | CA1984121177 | MYO7A | c.2367+37C= (n.2367+37C=) c.432+37C= (n.432+37C=) c.208+37C= c.2334+37C= (n.2334+37C=) c.2136+37C= (n.2136+37C=) c.2109+37C= (n.2109+37C=) n.2687+37C= n.2689+37C= c.2457+37C= (n.2457+37C=) c.2226+37C= (n.2226+37C=) n.2472+37C= | |
11 | g.77179166C>G | CA600345622 | MYO7A | c.2367+37C>G (n.2367+37C>G) c.432+37C>G (n.432+37C>G) c.208+37C>G c.2334+37C>G (n.2334+37C>G) c.2136+37C>G (n.2136+37C>G) c.2109+37C>G (n.2109+37C>G) n.2687+37C>G n.2689+37C>G c.2457+37C>G (n.2457+37C>G) c.2226+37C>G (n.2226+37C>G) n.2472+37C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77179166C>T | CA1984121182 | MYO7A | c.2367+37C>T (n.2367+37C>T) c.432+37C>T (n.432+37C>T) c.208+37C>T c.2334+37C>T (n.2334+37C>T) c.2136+37C>T (n.2136+37C>T) c.2109+37C>T (n.2109+37C>T) n.2687+37C>T n.2689+37C>T c.2457+37C>T (n.2457+37C>T) c.2226+37C>T (n.2226+37C>T) n.2472+37C>T | dbSNP gnomAD v4 |
11 | g.77179166_77179167insA | CA2792784200 | MYO7A | c.2367+37_2367+38insA (n.2367+37_2367+38insA) c.432+37_432+38insA (n.432+37_432+38insA) c.208+37_208+38insA c.2334+37_2334+38insA (n.2334+37_2334+38insA) c.2136+37_2136+38insA (n.2136+37_2136+38insA) c.2109+37_2109+38insA (n.2109+37_2109+38insA) n.2687+37_2687+38insA n.2689+37_2689+38insA c.2457+37_2457+38insA (n.2457+37_2457+38insA) c.2226+37_2226+38insA (n.2226+37_2226+38insA) n.2472+37_2472+38insA | |
11 | g.77179167C>A | CA2615254043 | MYO7A | c.2367+38C>A (n.2367+38C>A) c.432+38C>A (n.432+38C>A) c.208+38C>A c.2334+38C>A (n.2334+38C>A) c.2136+38C>A (n.2136+38C>A) c.2109+38C>A (n.2109+38C>A) n.2687+38C>A n.2689+38C>A c.2457+38C>A (n.2457+38C>A) c.2226+38C>A (n.2226+38C>A) n.2472+38C>A | gnomAD v4 |
11 | g.77179168T>A | CA2792784201 | MYO7A | c.2367+39T>A (n.2367+39T>A) c.432+39T>A (n.432+39T>A) c.208+39T>A c.2334+39T>A (n.2334+39T>A) c.2136+39T>A (n.2136+39T>A) c.2109+39T>A (n.2109+39T>A) n.2687+39T>A n.2689+39T>A c.2457+39T>A (n.2457+39T>A) c.2226+39T>A (n.2226+39T>A) n.2472+39T>A | |
11 | g.77179170T>C | CA6197821 | MYO7A | c.2367+41T>C (n.2367+41T>C) c.432+41T>C (n.432+41T>C) c.208+41T>C c.2334+41T>C (n.2334+41T>C) c.2136+41T>C (n.2136+41T>C) c.2109+41T>C (n.2109+41T>C) n.2687+41T>C n.2689+41T>C c.2457+41T>C (n.2457+41T>C) c.2226+41T>C (n.2226+41T>C) n.2472+41T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77179170T= | CA1984121187 | MYO7A | c.2367+41T= (n.2367+41T=) c.432+41T= (n.432+41T=) c.208+41T= c.2334+41T= (n.2334+41T=) c.2136+41T= (n.2136+41T=) c.2109+41T= (n.2109+41T=) n.2687+41T= n.2689+41T= c.2457+41T= (n.2457+41T=) c.2226+41T= (n.2226+41T=) n.2472+41T= | |
11 | g.77179171G>T | CA2615254046 | MYO7A | c.2367+42G>T (n.2367+42G>T) c.432+42G>T (n.432+42G>T) c.208+42G>T c.2334+42G>T (n.2334+42G>T) c.2136+42G>T (n.2136+42G>T) c.2109+42G>T (n.2109+42G>T) n.2687+42G>T n.2689+42G>T c.2457+42G>T (n.2457+42G>T) c.2226+42G>T (n.2226+42G>T) n.2472+42G>T | gnomAD v4 |
11 | g.77179172A>G | CA2574931038 | MYO7A | c.2367+43A>G (n.2367+43A>G) c.432+43A>G (n.432+43A>G) c.208+43A>G c.2334+43A>G (n.2334+43A>G) c.2136+43A>G (n.2136+43A>G) c.2109+43A>G (n.2109+43A>G) n.2687+43A>G n.2689+43A>G c.2457+43A>G (n.2457+43A>G) c.2226+43A>G (n.2226+43A>G) n.2472+43A>G | |
11 | g.77179173A= | CA1984121190 | MYO7A | c.2367+44A= (n.2367+44A=) c.432+44A= (n.432+44A=) c.208+44A= c.2334+44A= (n.2334+44A=) c.2136+44A= (n.2136+44A=) c.2109+44A= (n.2109+44A=) n.2687+44A= n.2689+44A= c.2457+44A= (n.2457+44A=) c.2226+44A= (n.2226+44A=) n.2472+44A= | |
11 | g.77179173A>C | CA1984121191 | MYO7A | c.2367+44A>C (n.2367+44A>C) c.432+44A>C (n.432+44A>C) c.208+44A>C c.2334+44A>C (n.2334+44A>C) c.2136+44A>C (n.2136+44A>C) c.2109+44A>C (n.2109+44A>C) n.2687+44A>C n.2689+44A>C c.2457+44A>C (n.2457+44A>C) c.2226+44A>C (n.2226+44A>C) n.2472+44A>C | dbSNP gnomAD v4 |
11 | g.77179173A>G | CA2615254051 | MYO7A | c.2367+44A>G (n.2367+44A>G) c.432+44A>G (n.432+44A>G) c.208+44A>G c.2334+44A>G (n.2334+44A>G) c.2136+44A>G (n.2136+44A>G) c.2109+44A>G (n.2109+44A>G) n.2687+44A>G n.2689+44A>G c.2457+44A>G (n.2457+44A>G) c.2226+44A>G (n.2226+44A>G) n.2472+44A>G | gnomAD v4 |
11 | g.77179174C>A | CA6197822 | MYO7A | c.2367+45C>A (n.2367+45C>A) c.432+45C>A (n.432+45C>A) c.208+45C>A c.2334+45C>A (n.2334+45C>A) c.2136+45C>A (n.2136+45C>A) c.2109+45C>A (n.2109+45C>A) n.2687+45C>A n.2689+45C>A c.2457+45C>A (n.2457+45C>A) c.2226+45C>A (n.2226+45C>A) n.2472+45C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77179174C= | CA1984121194 | MYO7A | c.2367+45C= (n.2367+45C=) c.432+45C= (n.432+45C=) c.208+45C= c.2334+45C= (n.2334+45C=) c.2136+45C= (n.2136+45C=) c.2109+45C= (n.2109+45C=) n.2687+45C= n.2689+45C= c.2457+45C= (n.2457+45C=) c.2226+45C= (n.2226+45C=) n.2472+45C= | |
11 | g.77179174C>G | CA680368591 | MYO7A | c.2367+45C>G (n.2367+45C>G) c.432+45C>G (n.432+45C>G) c.208+45C>G c.2334+45C>G (n.2334+45C>G) c.2136+45C>G (n.2136+45C>G) c.2109+45C>G (n.2109+45C>G) n.2687+45C>G n.2689+45C>G c.2457+45C>G (n.2457+45C>G) c.2226+45C>G (n.2226+45C>G) n.2472+45C>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.77179174C>T | CA1984121196 | MYO7A | c.2367+45C>T (n.2367+45C>T) c.432+45C>T (n.432+45C>T) c.208+45C>T c.2334+45C>T (n.2334+45C>T) c.2136+45C>T (n.2136+45C>T) c.2109+45C>T (n.2109+45C>T) n.2687+45C>T n.2689+45C>T c.2457+45C>T (n.2457+45C>T) c.2226+45C>T (n.2226+45C>T) n.2472+45C>T | dbSNP |
11 | g.77179176del | CA2615254053 | MYO7A | c.2367+47del (n.2367+47del) c.432+47del (n.432+47del) c.208+47del c.2334+47del (n.2334+47del) c.2136+47del (n.2136+47del) c.2109+47del (n.2109+47del) n.2687+47del n.2689+47del c.2457+47del (n.2457+47del) c.2226+47del (n.2226+47del) n.2472+47del | gnomAD v4 |
11 | g.77179175C>A | CA680368592 | MYO7A | c.2367+46C>A (n.2367+46C>A) c.432+46C>A (n.432+46C>A) c.208+46C>A c.2334+46C>A (n.2334+46C>A) c.2136+46C>A (n.2136+46C>A) c.2109+46C>A (n.2109+46C>A) n.2687+46C>A n.2689+46C>A c.2457+46C>A (n.2457+46C>A) c.2226+46C>A (n.2226+46C>A) n.2472+46C>A | dbSNP gnomAD v4 |
11 | g.77179175C= | CA1984121200 | MYO7A | c.2367+46C= (n.2367+46C=) c.432+46C= (n.432+46C=) c.208+46C= c.2334+46C= (n.2334+46C=) c.2136+46C= (n.2136+46C=) c.2109+46C= (n.2109+46C=) n.2687+46C= n.2689+46C= c.2457+46C= (n.2457+46C=) c.2226+46C= (n.2226+46C=) n.2472+46C= | |
11 | g.77179175C>G | CA680368596 | MYO7A | c.2367+46C>G (n.2367+46C>G) c.432+46C>G (n.432+46C>G) c.208+46C>G c.2334+46C>G (n.2334+46C>G) c.2136+46C>G (n.2136+46C>G) c.2109+46C>G (n.2109+46C>G) n.2687+46C>G n.2689+46C>G c.2457+46C>G (n.2457+46C>G) c.2226+46C>G (n.2226+46C>G) n.2472+46C>G | dbSNP |
11 | g.77179175C>T | CA2574931039 | MYO7A | c.2367+46C>T (n.2367+46C>T) c.432+46C>T (n.432+46C>T) c.208+46C>T c.2334+46C>T (n.2334+46C>T) c.2136+46C>T (n.2136+46C>T) c.2109+46C>T (n.2109+46C>T) n.2687+46C>T n.2689+46C>T c.2457+46C>T (n.2457+46C>T) c.2226+46C>T (n.2226+46C>T) n.2472+46C>T |