WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77179068_77179069delinsAC | CA1984120908 | MYO7A | c.2306_2307delinsAC (p.Asn769=) c.371_372delinsAC (p.Asn124=) c.147_148delinsAC c.2273_2274delinsAC (p.Asn758=) c.2075_2076delinsAC (p.Asn692=) c.2048_2049delinsAC (p.Asn683=) n.2626_2627delinsAC n.2628_2629delinsAC c.2396_2397delinsAC (p.Asn799=) c.2165_2166delinsAC (p.Asn722=) n.2411_2412delinsAC | |
| 11 | g.77179069del | CA16609575 | MYO7A | c.2307del (p.Asn769LysfsTer5) c.372del (p.Asn124LysfsTer5) c.148del c.2274del (p.Asn758LysfsTer5) c.2076del (p.Asn692LysfsTer5) c.2049del (p.Asn683LysfsTer5) n.2627del n.2629del c.2397del (p.Asn799LysfsTer5) c.2166del (p.Asn722LysfsTer5) n.2412del | ClinVar dbSNP |
| 11 | g.77179069C>A | CA6197803 | MYO7A | c.2307C>A (p.Asn769Lys) c.372C>A (p.Asn124Lys) c.148C>A c.2274C>A (p.Asn758Lys) c.2076C>A (p.Asn692Lys) c.2049C>A (p.Asn683Lys) n.2627C>A n.2629C>A c.2397C>A (p.Asn799Lys) c.2166C>A (p.Asn722Lys) n.2412C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.77179069C= | CA1984120919 | MYO7A | c.2307C= (p.Asn769=) c.372C= (p.Asn124=) c.148C= c.2274C= (p.Asn758=) c.2076C= (p.Asn692=) c.2049C= (p.Asn683=) n.2627C= n.2629C= c.2397C= (p.Asn799=) c.2166C= (p.Asn722=) n.2412C= | |
| 11 | g.77179069C>G | CA381940870 | MYO7A | c.2307C>G (p.Asn769Lys) c.372C>G (p.Asn124Lys) c.148C>G c.2274C>G (p.Asn758Lys) c.2076C>G (p.Asn692Lys) c.2049C>G (p.Asn683Lys) n.2627C>G n.2629C>G c.2397C>G (p.Asn799Lys) c.2166C>G (p.Asn722Lys) n.2412C>G | |
| 11 | g.77179069C>T | CA6197802 | MYO7A | c.2307C>T (p.Asn769=) c.372C>T (p.Asn124=) c.148C>T c.2274C>T (p.Asn758=) c.2076C>T (p.Asn692=) c.2049C>T (p.Asn683=) n.2627C>T n.2629C>T c.2397C>T (p.Asn799=) c.2166C>T (p.Asn722=) n.2412C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77179070G>A | CA6197804 | MYO7A | c.2308G>A (p.Ala770Thr) c.373G>A (p.Ala125Thr) c.149G>A c.2275G>A (p.Ala759Thr) c.2077G>A (p.Ala693Thr) c.2050G>A (p.Ala684Thr) n.2628G>A n.2630G>A c.2398G>A (p.Ala800Thr) c.2167G>A (p.Ala723Thr) n.2413G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77179070G>C | CA381940874 | MYO7A | c.2308G>C (p.Ala770Pro) c.373G>C (p.Ala125Pro) c.149G>C c.2275G>C (p.Ala759Pro) c.2077G>C (p.Ala693Pro) c.2050G>C (p.Ala684Pro) n.2628G>C n.2630G>C c.2398G>C (p.Ala800Pro) c.2167G>C (p.Ala723Pro) n.2413G>C | |
| 11 | g.77179070G= | CA1984120927 | MYO7A | c.2308G= (p.Ala770=) c.373G= (p.Ala125=) c.149G= c.2275G= (p.Ala759=) c.2077G= (p.Ala693=) c.2050G= (p.Ala684=) n.2628G= n.2630G= c.2398G= (p.Ala800=) c.2167G= (p.Ala723=) n.2413G= | |
| 11 | g.77179070G>T | CA381940875 | MYO7A | c.2308G>T (p.Ala770Ser) c.373G>T (p.Ala125Ser) c.149G>T c.2275G>T (p.Ala759Ser) c.2077G>T (p.Ala693Ser) c.2050G>T (p.Ala684Ser) n.2628G>T n.2630G>T c.2398G>T (p.Ala800Ser) c.2167G>T (p.Ala723Ser) n.2413G>T | |
| 11 | g.77179071C>A | CA381940876 | MYO7A | c.2309C>A (p.Ala770Asp) c.374C>A (p.Ala125Asp) c.150C>A c.2276C>A (p.Ala759Asp) c.2078C>A (p.Ala693Asp) c.2051C>A (p.Ala684Asp) n.2629C>A n.2631C>A c.2399C>A (p.Ala800Asp) c.2168C>A (p.Ala723Asp) n.2414C>A | |
| 11 | g.77179071C>G | CA381940878 | MYO7A | c.2309C>G (p.Ala770Gly) c.374C>G (p.Ala125Gly) c.150C>G c.2276C>G (p.Ala759Gly) c.2078C>G (p.Ala693Gly) c.2051C>G (p.Ala684Gly) n.2629C>G n.2631C>G c.2399C>G (p.Ala800Gly) c.2168C>G (p.Ala723Gly) n.2414C>G | |
| 11 | g.77179071C>T | CA381940879 | MYO7A | c.2309C>T (p.Ala770Val) c.374C>T (p.Ala125Val) c.150C>T c.2276C>T (p.Ala759Val) c.2078C>T (p.Ala693Val) c.2051C>T (p.Ala684Val) n.2629C>T n.2631C>T c.2399C>T (p.Ala800Val) c.2168C>T (p.Ala723Val) n.2414C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.77179072T>A | CA475794870 | MYO7A | c.2310T>A (p.Ala770=) c.375T>A (p.Ala125=) c.151T>A c.2277T>A (p.Ala759=) c.2079T>A (p.Ala693=) c.2052T>A (p.Ala684=) n.2630T>A n.2632T>A c.2400T>A (p.Ala800=) c.2169T>A (p.Ala723=) n.2415T>A | |
| 11 | g.77179072T>C | CA475794871 | MYO7A | c.2310T>C (p.Ala770=) c.375T>C (p.Ala125=) c.151T>C c.2277T>C (p.Ala759=) c.2079T>C (p.Ala693=) c.2052T>C (p.Ala684=) n.2630T>C n.2632T>C c.2400T>C (p.Ala800=) c.2169T>C (p.Ala723=) n.2415T>C | gnomAD v4 |
| 11 | g.77179072T>G | CA475794872 | MYO7A | c.2310T>G (p.Ala770=) c.375T>G (p.Ala125=) c.151T>G c.2277T>G (p.Ala759=) c.2079T>G (p.Ala693=) c.2052T>G (p.Ala684=) n.2630T>G n.2632T>G c.2400T>G (p.Ala800=) c.2169T>G (p.Ala723=) n.2415T>G | |
| 11 | g.77179073G>A | CA6197805 | MYO7A | c.2311G>A (p.Ala771Thr) c.376G>A (p.Ala126Thr) c.152G>A c.2278G>A (p.Ala760Thr) c.2080G>A (p.Ala694Thr) c.2053G>A (p.Ala685Thr) n.2631G>A n.2633G>A c.2401G>A (p.Ala801Thr) c.2170G>A (p.Ala724Thr) n.2416G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.77179073G>C | CA381940882 | MYO7A | c.2311G>C (p.Ala771Pro) c.376G>C (p.Ala126Pro) c.152G>C c.2278G>C (p.Ala760Pro) c.2080G>C (p.Ala694Pro) c.2053G>C (p.Ala685Pro) n.2631G>C n.2633G>C c.2401G>C (p.Ala801Pro) c.2170G>C (p.Ala724Pro) n.2416G>C | |
| 11 | g.77179073G= | CA1984120942 | MYO7A | c.2311G= (p.Ala771=) c.376G= (p.Ala126=) c.152G= c.2278G= (p.Ala760=) c.2080G= (p.Ala694=) c.2053G= (p.Ala685=) n.2631G= n.2633G= c.2401G= (p.Ala801=) c.2170G= (p.Ala724=) n.2416G= | |
| 11 | g.77179073G>T | CA10576351 | MYO7A | c.2311G>T (p.Ala771Ser) c.376G>T (p.Ala126Ser) c.152G>T c.2278G>T (p.Ala760Ser) c.2080G>T (p.Ala694Ser) c.2053G>T (p.Ala685Ser) n.2631G>T n.2633G>T c.2401G>T (p.Ala801Ser) c.2170G>T (p.Ala724Ser) n.2416G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77179074C>A | CA381940884 | MYO7A | c.2312C>A (p.Ala771Asp) c.377C>A (p.Ala126Asp) c.153C>A c.2279C>A (p.Ala760Asp) c.2081C>A (p.Ala694Asp) c.2054C>A (p.Ala685Asp) n.2632C>A n.2634C>A c.2402C>A (p.Ala801Asp) c.2171C>A (p.Ala724Asp) n.2417C>A | gnomAD v4 |
| 11 | g.77179074C>G | CA381940886 | MYO7A | c.2312C>G (p.Ala771Gly) c.377C>G (p.Ala126Gly) c.153C>G c.2279C>G (p.Ala760Gly) c.2081C>G (p.Ala694Gly) c.2054C>G (p.Ala685Gly) n.2632C>G n.2634C>G c.2402C>G (p.Ala801Gly) c.2171C>G (p.Ala724Gly) n.2417C>G | |
| 11 | g.77179074C>T | CA381940888 | MYO7A | c.2312C>T (p.Ala771Val) c.377C>T (p.Ala126Val) c.153C>T c.2279C>T (p.Ala760Val) c.2081C>T (p.Ala694Val) c.2054C>T (p.Ala685Val) n.2632C>T n.2634C>T c.2402C>T (p.Ala801Val) c.2171C>T (p.Ala724Val) n.2417C>T | |
| 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= |