UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.12992956_12992969dup | CA2636193342 | ELAC2 | c.2332_2345dup (p.Glu783TrpfsTer?) c.2275_2288dup (p.Glu764TrpfsTer?) c.2212_2225dup (p.Glu743TrpfsTer?) n.2219_2232dup n.2161_2174dup n.3162_3175dup n.1878_1891dup c.1731_1744dup c.2329_2342dup (p.Glu782TrpfsTer?) c.2491_2504dup (p.Glu836TrpfsTer?) c.2413_2426dup (p.Glu810TrpfsTer?) c.2410_2423dup (p.Glu809TrpfsTer?) c.2407_2420dup (p.Glu808TrpfsTer?) c.2371_2384dup (p.Glu796TrpfsTer?) c.2290_2303dup (p.Glu769TrpfsTer?) c.2209_2222dup (p.Glu742TrpfsTer?) c.2128_2141dup (p.Glu715TrpfsTer?) c.2125_2138dup (p.Glu714TrpfsTer?) c.2050_2063dup (p.Glu689TrpfsTer?) c.2047_2060dup (p.Glu688TrpfsTer?) | gnomAD v4 |
| 17 | g.12992969T>A | CA398222293 | ELAC2 | c.2330A>T (p.Glu777Val) c.2273A>T (p.Glu758Val) c.2210A>T (p.Glu737Val) n.2217A>T n.2159A>T n.3160A>T n.1876A>T c.1729A>T c.2327A>T (p.Glu776Val) c.2489A>T (p.Glu830Val) c.2411A>T (p.Glu804Val) c.2408A>T (p.Glu803Val) c.2405A>T (p.Glu802Val) c.2369A>T (p.Glu790Val) c.2288A>T (p.Glu763Val) c.2207A>T (p.Glu736Val) c.2126A>T (p.Glu709Val) c.2123A>T (p.Glu708Val) c.2048A>T (p.Glu683Val) c.2045A>T (p.Glu682Val) | |
| 17 | g.12992969T>C | CA398222294 | ELAC2 | c.2330A>G (p.Glu777Gly) c.2273A>G (p.Glu758Gly) c.2210A>G (p.Glu737Gly) n.2217A>G n.2159A>G n.3160A>G n.1876A>G c.1729A>G c.2327A>G (p.Glu776Gly) c.2489A>G (p.Glu830Gly) c.2411A>G (p.Glu804Gly) c.2408A>G (p.Glu803Gly) c.2405A>G (p.Glu802Gly) c.2369A>G (p.Glu790Gly) c.2288A>G (p.Glu763Gly) c.2207A>G (p.Glu736Gly) c.2126A>G (p.Glu709Gly) c.2123A>G (p.Glu708Gly) c.2048A>G (p.Glu683Gly) c.2045A>G (p.Glu682Gly) | |
| 17 | g.12992969T>G | CA398222295 | ELAC2 | c.2330A>C (p.Glu777Ala) c.2273A>C (p.Glu758Ala) c.2210A>C (p.Glu737Ala) n.2217A>C n.2159A>C n.3160A>C n.1876A>C c.1729A>C c.2327A>C (p.Glu776Ala) c.2489A>C (p.Glu830Ala) c.2411A>C (p.Glu804Ala) c.2408A>C (p.Glu803Ala) c.2405A>C (p.Glu802Ala) c.2369A>C (p.Glu790Ala) c.2288A>C (p.Glu763Ala) c.2207A>C (p.Glu736Ala) c.2126A>C (p.Glu709Ala) c.2123A>C (p.Glu708Ala) c.2048A>C (p.Glu683Ala) c.2045A>C (p.Glu682Ala) | |
| 17 | g.12992970C>A | CA398222296 | ELAC2 | c.2329G>T (p.Glu777Ter) c.2272G>T (p.Glu758Ter) c.2209G>T (p.Glu737Ter) n.2216G>T n.2158G>T n.3159G>T n.1875G>T c.1728G>T c.2326G>T (p.Glu776Ter) c.2488G>T (p.Glu830Ter) c.2410G>T (p.Glu804Ter) c.2407G>T (p.Glu803Ter) c.2404G>T (p.Glu802Ter) c.2368G>T (p.Glu790Ter) c.2287G>T (p.Glu763Ter) c.2206G>T (p.Glu736Ter) c.2125G>T (p.Glu709Ter) c.2122G>T (p.Glu708Ter) c.2047G>T (p.Glu683Ter) c.2044G>T (p.Glu682Ter) | |
| 17 | g.12992970C= | CA2248421662 | ELAC2 | c.2329G= (p.Glu777=) c.2272G= (p.Glu758=) c.2209G= (p.Glu737=) n.2216G= n.2158G= n.3159G= n.1875G= c.1728G= c.2326G= (p.Glu776=) c.2488G= (p.Glu830=) c.2410G= (p.Glu804=) c.2407G= (p.Glu803=) c.2404G= (p.Glu802=) c.2368G= (p.Glu790=) c.2287G= (p.Glu763=) c.2206G= (p.Glu736=) c.2125G= (p.Glu709=) c.2122G= (p.Glu708=) c.2047G= (p.Glu683=) c.2044G= (p.Glu682=) | |
| 17 | g.12992970C>G | CA398222297 | ELAC2 | c.2329G>C (p.Glu777Gln) c.2272G>C (p.Glu758Gln) c.2209G>C (p.Glu737Gln) n.2216G>C n.2158G>C n.3159G>C n.1875G>C c.1728G>C c.2326G>C (p.Glu776Gln) c.2488G>C (p.Glu830Gln) c.2410G>C (p.Glu804Gln) c.2407G>C (p.Glu803Gln) c.2404G>C (p.Glu802Gln) c.2368G>C (p.Glu790Gln) c.2287G>C (p.Glu763Gln) c.2206G>C (p.Glu736Gln) c.2125G>C (p.Glu709Gln) c.2122G>C (p.Glu708Gln) c.2047G>C (p.Glu683Gln) c.2044G>C (p.Glu682Gln) | |
| 17 | g.12992970C>T | CA398222298 | ELAC2 | c.2329G>A (p.Glu777Lys) c.2272G>A (p.Glu758Lys) c.2209G>A (p.Glu737Lys) n.2216G>A n.2158G>A n.3159G>A n.1875G>A c.1728G>A c.2326G>A (p.Glu776Lys) c.2488G>A (p.Glu830Lys) c.2410G>A (p.Glu804Lys) c.2407G>A (p.Glu803Lys) c.2404G>A (p.Glu802Lys) c.2368G>A (p.Glu790Lys) c.2287G>A (p.Glu763Lys) c.2206G>A (p.Glu736Lys) c.2125G>A (p.Glu709Lys) c.2122G>A (p.Glu708Lys) c.2047G>A (p.Glu683Lys) c.2044G>A (p.Glu682Lys) | dbSNP gnomAD v2 |
| 17 | g.12992971C>A | CA398222299 | ELAC2 | c.2328G>T (p.Glu776Asp) c.2271G>T (p.Glu757Asp) c.2208G>T (p.Glu736Asp) n.2215G>T n.2157G>T n.3158G>T n.1874G>T c.1727G>T c.2325G>T (p.Glu775Asp) c.2487G>T (p.Glu829Asp) c.2409G>T (p.Glu803Asp) c.2406G>T (p.Glu802Asp) c.2403G>T (p.Glu801Asp) c.2367G>T (p.Glu789Asp) c.2286G>T (p.Glu762Asp) c.2205G>T (p.Glu735Asp) c.2124G>T (p.Glu708Asp) c.2121G>T (p.Glu707Asp) c.2046G>T (p.Glu682Asp) c.2043G>T (p.Glu681Asp) | |
| 17 | g.12992971C= | CA2248421665 | ELAC2 | c.2328G= (p.Glu776=) c.2271G= (p.Glu757=) c.2208G= (p.Glu736=) n.2215G= n.2157G= n.3158G= n.1874G= c.1727G= c.2325G= (p.Glu775=) c.2487G= (p.Glu829=) c.2409G= (p.Glu803=) c.2406G= (p.Glu802=) c.2403G= (p.Glu801=) c.2367G= (p.Glu789=) c.2286G= (p.Glu762=) c.2205G= (p.Glu735=) c.2124G= (p.Glu708=) c.2121G= (p.Glu707=) c.2046G= (p.Glu682=) c.2043G= (p.Glu681=) | |
| 17 | g.12992971C>G | CA398222300 | ELAC2 | c.2328G>C (p.Glu776Asp) c.2271G>C (p.Glu757Asp) c.2208G>C (p.Glu736Asp) n.2215G>C n.2157G>C n.3158G>C n.1874G>C c.1727G>C c.2325G>C (p.Glu775Asp) c.2487G>C (p.Glu829Asp) c.2409G>C (p.Glu803Asp) c.2406G>C (p.Glu802Asp) c.2403G>C (p.Glu801Asp) c.2367G>C (p.Glu789Asp) c.2286G>C (p.Glu762Asp) c.2205G>C (p.Glu735Asp) c.2124G>C (p.Glu708Asp) c.2121G>C (p.Glu707Asp) c.2046G>C (p.Glu682Asp) c.2043G>C (p.Glu681Asp) | |
| 17 | g.12992971C>T | CA498009653 | ELAC2 | c.2328G>A (p.Glu776=) c.2271G>A (p.Glu757=) c.2208G>A (p.Glu736=) n.2215G>A n.2157G>A n.3158G>A n.1874G>A c.1727G>A c.2325G>A (p.Glu775=) c.2487G>A (p.Glu829=) c.2409G>A (p.Glu803=) c.2406G>A (p.Glu802=) c.2403G>A (p.Glu801=) c.2367G>A (p.Glu789=) c.2286G>A (p.Glu762=) c.2205G>A (p.Glu735=) c.2124G>A (p.Glu708=) c.2121G>A (p.Glu707=) c.2046G>A (p.Glu682=) c.2043G>A (p.Glu681=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.12992972T>A | CA398222301 | ELAC2 | c.2327A>T (p.Glu776Val) c.2270A>T (p.Glu757Val) c.2207A>T (p.Glu736Val) n.2214A>T n.2156A>T n.3157A>T n.1873A>T c.1726A>T c.2324A>T (p.Glu775Val) c.2486A>T (p.Glu829Val) c.2408A>T (p.Glu803Val) c.2405A>T (p.Glu802Val) c.2402A>T (p.Glu801Val) c.2366A>T (p.Glu789Val) c.2285A>T (p.Glu762Val) c.2204A>T (p.Glu735Val) c.2123A>T (p.Glu708Val) c.2120A>T (p.Glu707Val) c.2045A>T (p.Glu682Val) c.2042A>T (p.Glu681Val) | |
| 17 | g.12992972T>C | CA398222302 | ELAC2 | c.2327A>G (p.Glu776Gly) c.2270A>G (p.Glu757Gly) c.2207A>G (p.Glu736Gly) n.2214A>G n.2156A>G n.3157A>G n.1873A>G c.1726A>G c.2324A>G (p.Glu775Gly) c.2486A>G (p.Glu829Gly) c.2408A>G (p.Glu803Gly) c.2405A>G (p.Glu802Gly) c.2402A>G (p.Glu801Gly) c.2366A>G (p.Glu789Gly) c.2285A>G (p.Glu762Gly) c.2204A>G (p.Glu735Gly) c.2123A>G (p.Glu708Gly) c.2120A>G (p.Glu707Gly) c.2045A>G (p.Glu682Gly) c.2042A>G (p.Glu681Gly) | |
| 17 | g.12992972T>G | CA398222303 | ELAC2 | c.2327A>C (p.Glu776Ala) c.2270A>C (p.Glu757Ala) c.2207A>C (p.Glu736Ala) n.2214A>C n.2156A>C n.3157A>C n.1873A>C c.1726A>C c.2324A>C (p.Glu775Ala) c.2486A>C (p.Glu829Ala) c.2408A>C (p.Glu803Ala) c.2405A>C (p.Glu802Ala) c.2402A>C (p.Glu801Ala) c.2366A>C (p.Glu789Ala) c.2285A>C (p.Glu762Ala) c.2204A>C (p.Glu735Ala) c.2123A>C (p.Glu708Ala) c.2120A>C (p.Glu707Ala) c.2045A>C (p.Glu682Ala) c.2042A>C (p.Glu681Ala) | |
| 17 | g.12992973C>A | CA398222304 | ELAC2 | c.2326G>T (p.Glu776Ter) c.2269G>T (p.Glu757Ter) c.2206G>T (p.Glu736Ter) n.2213G>T n.2155G>T n.3156G>T n.1872G>T c.1725G>T c.2323G>T (p.Glu775Ter) c.2485G>T (p.Glu829Ter) c.2407G>T (p.Glu803Ter) c.2404G>T (p.Glu802Ter) c.2401G>T (p.Glu801Ter) c.2365G>T (p.Glu789Ter) c.2284G>T (p.Glu762Ter) c.2203G>T (p.Glu735Ter) c.2122G>T (p.Glu708Ter) c.2119G>T (p.Glu707Ter) c.2044G>T (p.Glu682Ter) c.2041G>T (p.Glu681Ter) | |
| 17 | g.12992973C= | CA2248421673 | ELAC2 | c.2326G= (p.Glu776=) c.2269G= (p.Glu757=) c.2206G= (p.Glu736=) n.2213G= n.2155G= n.3156G= n.1872G= c.1725G= c.2323G= (p.Glu775=) c.2485G= (p.Glu829=) c.2407G= (p.Glu803=) c.2404G= (p.Glu802=) c.2401G= (p.Glu801=) c.2365G= (p.Glu789=) c.2284G= (p.Glu762=) c.2203G= (p.Glu735=) c.2122G= (p.Glu708=) c.2119G= (p.Glu707=) c.2044G= (p.Glu682=) c.2041G= (p.Glu681=) | |
| 17 | g.12992973C>G | CA8400832 | ELAC2 | c.2326G>C (p.Glu776Gln) c.2269G>C (p.Glu757Gln) c.2206G>C (p.Glu736Gln) n.2213G>C n.2155G>C n.3156G>C n.1872G>C c.1725G>C c.2323G>C (p.Glu775Gln) c.2485G>C (p.Glu829Gln) c.2407G>C (p.Glu803Gln) c.2404G>C (p.Glu802Gln) c.2401G>C (p.Glu801Gln) c.2365G>C (p.Glu789Gln) c.2284G>C (p.Glu762Gln) c.2203G>C (p.Glu735Gln) c.2122G>C (p.Glu708Gln) c.2119G>C (p.Glu707Gln) c.2044G>C (p.Glu682Gln) c.2041G>C (p.Glu681Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.12992973C>T | CA8400831 | ELAC2 | c.2326G>A (p.Glu776Lys) c.2269G>A (p.Glu757Lys) c.2206G>A (p.Glu736Lys) n.2213G>A n.2155G>A n.3156G>A n.1872G>A c.1725G>A c.2323G>A (p.Glu775Lys) c.2485G>A (p.Glu829Lys) c.2407G>A (p.Glu803Lys) c.2404G>A (p.Glu802Lys) c.2401G>A (p.Glu801Lys) c.2365G>A (p.Glu789Lys) c.2284G>A (p.Glu762Lys) c.2203G>A (p.Glu735Lys) c.2122G>A (p.Glu708Lys) c.2119G>A (p.Glu707Lys) c.2044G>A (p.Glu682Lys) c.2041G>A (p.Glu681Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.12992974G>A | CA8400833 | ELAC2 | c.2325C>T (p.Ile775=) c.2268C>T (p.Ile756=) c.2205C>T (p.Ile735=) n.2212C>T n.2154C>T n.3155C>T n.1871C>T c.1724C>T c.2322C>T (p.Ile774=) c.2484C>T (p.Ile828=) c.2406C>T (p.Ile802=) c.2403C>T (p.Ile801=) c.2400C>T (p.Ile800=) c.2364C>T (p.Ile788=) c.2283C>T (p.Ile761=) c.2202C>T (p.Ile734=) c.2121C>T (p.Ile707=) c.2118C>T (p.Ile706=) c.2043C>T (p.Ile681=) c.2040C>T (p.Ile680=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.12992974G>C | CA398222305 | ELAC2 | c.2325C>G (p.Ile775Met) c.2268C>G (p.Ile756Met) c.2205C>G (p.Ile735Met) n.2212C>G n.2154C>G n.3155C>G n.1871C>G c.1724C>G c.2322C>G (p.Ile774Met) c.2484C>G (p.Ile828Met) c.2406C>G (p.Ile802Met) c.2403C>G (p.Ile801Met) c.2400C>G (p.Ile800Met) c.2364C>G (p.Ile788Met) c.2283C>G (p.Ile761Met) c.2202C>G (p.Ile734Met) c.2121C>G (p.Ile707Met) c.2118C>G (p.Ile706Met) c.2043C>G (p.Ile681Met) c.2040C>G (p.Ile680Met) | |
| 17 | g.12992974G= | CA2248421676 | ELAC2 | c.2325C= (p.Ile775=) c.2268C= (p.Ile756=) c.2205C= (p.Ile735=) n.2212C= n.2154C= n.3155C= n.1871C= c.1724C= c.2322C= (p.Ile774=) c.2484C= (p.Ile828=) c.2406C= (p.Ile802=) c.2403C= (p.Ile801=) c.2400C= (p.Ile800=) c.2364C= (p.Ile788=) c.2283C= (p.Ile761=) c.2202C= (p.Ile734=) c.2121C= (p.Ile707=) c.2118C= (p.Ile706=) c.2043C= (p.Ile681=) c.2040C= (p.Ile680=) | |
| 17 | g.12992974G>T | CA498009655 | ELAC2 | c.2325C>A (p.Ile775=) c.2268C>A (p.Ile756=) c.2205C>A (p.Ile735=) n.2212C>A n.2154C>A n.3155C>A n.1871C>A c.1724C>A c.2322C>A (p.Ile774=) c.2484C>A (p.Ile828=) c.2406C>A (p.Ile802=) c.2403C>A (p.Ile801=) c.2400C>A (p.Ile800=) c.2364C>A (p.Ile788=) c.2283C>A (p.Ile761=) c.2202C>A (p.Ile734=) c.2121C>A (p.Ile707=) c.2118C>A (p.Ile706=) c.2043C>A (p.Ile681=) c.2040C>A (p.Ile680=) | |
| 17 | g.12992975A= | CA2248421682 | ELAC2 | c.2324T= (p.Ile775=) c.2267T= (p.Ile756=) c.2204T= (p.Ile735=) n.2211T= n.2153T= n.3154T= n.1870T= c.1723T= c.2321T= (p.Ile774=) c.2483T= (p.Ile828=) c.2405T= (p.Ile802=) c.2402T= (p.Ile801=) c.2399T= (p.Ile800=) c.2363T= (p.Ile788=) c.2282T= (p.Ile761=) c.2201T= (p.Ile734=) c.2120T= (p.Ile707=) c.2117T= (p.Ile706=) c.2042T= (p.Ile681=) c.2039T= (p.Ile680=) | |
| 17 | g.12992975A>C | CA398222306 | ELAC2 | c.2324T>G (p.Ile775Ser) c.2267T>G (p.Ile756Ser) c.2204T>G (p.Ile735Ser) n.2211T>G n.2153T>G n.3154T>G n.1870T>G c.1723T>G c.2321T>G (p.Ile774Ser) c.2483T>G (p.Ile828Ser) c.2405T>G (p.Ile802Ser) c.2402T>G (p.Ile801Ser) c.2399T>G (p.Ile800Ser) c.2363T>G (p.Ile788Ser) c.2282T>G (p.Ile761Ser) c.2201T>G (p.Ile734Ser) c.2120T>G (p.Ile707Ser) c.2117T>G (p.Ile706Ser) c.2042T>G (p.Ile681Ser) c.2039T>G (p.Ile680Ser) | |
| 17 | g.12992975A>G | CA398222307 | ELAC2 | c.2324T>C (p.Ile775Thr) c.2267T>C (p.Ile756Thr) c.2204T>C (p.Ile735Thr) n.2211T>C n.2153T>C n.3154T>C n.1870T>C c.1723T>C c.2321T>C (p.Ile774Thr) c.2483T>C (p.Ile828Thr) c.2405T>C (p.Ile802Thr) c.2402T>C (p.Ile801Thr) c.2399T>C (p.Ile800Thr) c.2363T>C (p.Ile788Thr) c.2282T>C (p.Ile761Thr) c.2201T>C (p.Ile734Thr) c.2120T>C (p.Ile707Thr) c.2117T>C (p.Ile706Thr) c.2042T>C (p.Ile681Thr) c.2039T>C (p.Ile680Thr) | |
| 17 | g.12992975A>T | CA398222308 | ELAC2 | c.2324T>A (p.Ile775Asn) c.2267T>A (p.Ile756Asn) c.2204T>A (p.Ile735Asn) n.2211T>A n.2153T>A n.3154T>A n.1870T>A c.1723T>A c.2321T>A (p.Ile774Asn) c.2483T>A (p.Ile828Asn) c.2405T>A (p.Ile802Asn) c.2402T>A (p.Ile801Asn) c.2399T>A (p.Ile800Asn) c.2363T>A (p.Ile788Asn) c.2282T>A (p.Ile761Asn) c.2201T>A (p.Ile734Asn) c.2120T>A (p.Ile707Asn) c.2117T>A (p.Ile706Asn) c.2042T>A (p.Ile681Asn) c.2039T>A (p.Ile680Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.12992976T>A | CA398222309 | ELAC2 | c.2323A>T (p.Ile775Phe) c.2266A>T (p.Ile756Phe) c.2203A>T (p.Ile735Phe) n.2210A>T n.2152A>T n.3153A>T n.1869A>T c.1722A>T c.2320A>T (p.Ile774Phe) c.2482A>T (p.Ile828Phe) c.2404A>T (p.Ile802Phe) c.2401A>T (p.Ile801Phe) c.2398A>T (p.Ile800Phe) c.2362A>T (p.Ile788Phe) c.2281A>T (p.Ile761Phe) c.2200A>T (p.Ile734Phe) c.2119A>T (p.Ile707Phe) c.2116A>T (p.Ile706Phe) c.2041A>T (p.Ile681Phe) c.2038A>T (p.Ile680Phe) | |
| 17 | g.12992976T>C | CA288075090 | ELAC2 | c.2323A>G (p.Ile775Val) c.2266A>G (p.Ile756Val) c.2203A>G (p.Ile735Val) n.2210A>G n.2152A>G n.3153A>G n.1869A>G c.1722A>G c.2320A>G (p.Ile774Val) c.2482A>G (p.Ile828Val) c.2404A>G (p.Ile802Val) c.2401A>G (p.Ile801Val) c.2398A>G (p.Ile800Val) c.2362A>G (p.Ile788Val) c.2281A>G (p.Ile761Val) c.2200A>G (p.Ile734Val) c.2119A>G (p.Ile707Val) c.2116A>G (p.Ile706Val) c.2041A>G (p.Ile681Val) c.2038A>G (p.Ile680Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.12992976T>G | CA398222310 | ELAC2 | c.2323A>C (p.Ile775Leu) c.2266A>C (p.Ile756Leu) c.2203A>C (p.Ile735Leu) n.2210A>C n.2152A>C n.3153A>C n.1869A>C c.1722A>C c.2320A>C (p.Ile774Leu) c.2482A>C (p.Ile828Leu) c.2404A>C (p.Ile802Leu) c.2401A>C (p.Ile801Leu) c.2398A>C (p.Ile800Leu) c.2362A>C (p.Ile788Leu) c.2281A>C (p.Ile761Leu) c.2200A>C (p.Ile734Leu) c.2119A>C (p.Ile707Leu) c.2116A>C (p.Ile706Leu) c.2041A>C (p.Ile681Leu) c.2038A>C (p.Ile680Leu) | |
| 17 | g.12992976T= | CA2248421687 | ELAC2 | c.2323A= (p.Ile775=) c.2266A= (p.Ile756=) c.2203A= (p.Ile735=) n.2210A= n.2152A= n.3153A= n.1869A= c.1722A= c.2320A= (p.Ile774=) c.2482A= (p.Ile828=) c.2404A= (p.Ile802=) c.2401A= (p.Ile801=) c.2398A= (p.Ile800=) c.2362A= (p.Ile788=) c.2281A= (p.Ile761=) c.2200A= (p.Ile734=) c.2119A= (p.Ile707=) c.2116A= (p.Ile706=) c.2041A= (p.Ile681=) c.2038A= (p.Ile680=) | |
| 17 | g.12992977G>A | CA498009656 | ELAC2 | c.2322C>T (p.Asp774=) c.2265C>T (p.Asp755=) c.2202C>T (p.Asp734=) n.2209C>T n.2151C>T n.3152C>T n.1868C>T c.1721C>T c.2319C>T (p.Asp773=) c.2481C>T (p.Asp827=) c.2403C>T (p.Asp801=) c.2400C>T (p.Asp800=) c.2397C>T (p.Asp799=) c.2361C>T (p.Asp787=) c.2280C>T (p.Asp760=) c.2199C>T (p.Asp733=) c.2118C>T (p.Asp706=) c.2115C>T (p.Asp705=) c.2040C>T (p.Asp680=) c.2037C>T (p.Asp679=) | |
| 17 | g.12992977G>C | CA398222311 | ELAC2 | c.2322C>G (p.Asp774Glu) c.2265C>G (p.Asp755Glu) c.2202C>G (p.Asp734Glu) n.2209C>G n.2151C>G n.3152C>G n.1868C>G c.1721C>G c.2319C>G (p.Asp773Glu) c.2481C>G (p.Asp827Glu) c.2403C>G (p.Asp801Glu) c.2400C>G (p.Asp800Glu) c.2397C>G (p.Asp799Glu) c.2361C>G (p.Asp787Glu) c.2280C>G (p.Asp760Glu) c.2199C>G (p.Asp733Glu) c.2118C>G (p.Asp706Glu) c.2115C>G (p.Asp705Glu) c.2040C>G (p.Asp680Glu) c.2037C>G (p.Asp679Glu) | |
| 17 | g.12992977G>T | CA398222312 | ELAC2 | c.2322C>A (p.Asp774Glu) c.2265C>A (p.Asp755Glu) c.2202C>A (p.Asp734Glu) n.2209C>A n.2151C>A n.3152C>A n.1868C>A c.1721C>A c.2319C>A (p.Asp773Glu) c.2481C>A (p.Asp827Glu) c.2403C>A (p.Asp801Glu) c.2400C>A (p.Asp800Glu) c.2397C>A (p.Asp799Glu) c.2361C>A (p.Asp787Glu) c.2280C>A (p.Asp760Glu) c.2199C>A (p.Asp733Glu) c.2118C>A (p.Asp706Glu) c.2115C>A (p.Asp705Glu) c.2040C>A (p.Asp680Glu) c.2037C>A (p.Asp679Glu) | gnomAD v4 |
| 17 | g.12992978T>A | CA398222313 | ELAC2 | c.2321A>T (p.Asp774Val) c.2264A>T (p.Asp755Val) c.2201A>T (p.Asp734Val) n.2208A>T n.2150A>T n.3151A>T n.1867A>T c.1720A>T c.2318A>T (p.Asp773Val) c.2480A>T (p.Asp827Val) c.2402A>T (p.Asp801Val) c.2399A>T (p.Asp800Val) c.2396A>T (p.Asp799Val) c.2360A>T (p.Asp787Val) c.2279A>T (p.Asp760Val) c.2198A>T (p.Asp733Val) c.2117A>T (p.Asp706Val) c.2114A>T (p.Asp705Val) c.2039A>T (p.Asp680Val) c.2036A>T (p.Asp679Val) | |
| 17 | g.12992978T>C | CA398222314 | ELAC2 | c.2321A>G (p.Asp774Gly) c.2264A>G (p.Asp755Gly) c.2201A>G (p.Asp734Gly) n.2208A>G n.2150A>G n.3151A>G n.1867A>G c.1720A>G c.2318A>G (p.Asp773Gly) c.2480A>G (p.Asp827Gly) c.2402A>G (p.Asp801Gly) c.2399A>G (p.Asp800Gly) c.2396A>G (p.Asp799Gly) c.2360A>G (p.Asp787Gly) c.2279A>G (p.Asp760Gly) c.2198A>G (p.Asp733Gly) c.2117A>G (p.Asp706Gly) c.2114A>G (p.Asp705Gly) c.2039A>G (p.Asp680Gly) c.2036A>G (p.Asp679Gly) | |
| 17 | g.12992978T>G | CA398222315 | ELAC2 | c.2321A>C (p.Asp774Ala) c.2264A>C (p.Asp755Ala) c.2201A>C (p.Asp734Ala) n.2208A>C n.2150A>C n.3151A>C n.1867A>C c.1720A>C c.2318A>C (p.Asp773Ala) c.2480A>C (p.Asp827Ala) c.2402A>C (p.Asp801Ala) c.2399A>C (p.Asp800Ala) c.2396A>C (p.Asp799Ala) c.2360A>C (p.Asp787Ala) c.2279A>C (p.Asp760Ala) c.2198A>C (p.Asp733Ala) c.2117A>C (p.Asp706Ala) c.2114A>C (p.Asp705Ala) c.2039A>C (p.Asp680Ala) c.2036A>C (p.Asp679Ala) | gnomAD v4 |
| 17 | g.12992979C>A | CA398222316 | ELAC2 | c.2320G>T (p.Asp774Tyr) c.2263G>T (p.Asp755Tyr) c.2200G>T (p.Asp734Tyr) n.2207G>T n.2149G>T n.3150G>T n.1866G>T c.1719G>T c.2317G>T (p.Asp773Tyr) c.2479G>T (p.Asp827Tyr) c.2401G>T (p.Asp801Tyr) c.2398G>T (p.Asp800Tyr) c.2395G>T (p.Asp799Tyr) c.2359G>T (p.Asp787Tyr) c.2278G>T (p.Asp760Tyr) c.2197G>T (p.Asp733Tyr) c.2116G>T (p.Asp706Tyr) c.2113G>T (p.Asp705Tyr) c.2038G>T (p.Asp680Tyr) c.2035G>T (p.Asp679Tyr) | gnomAD v4 |
| 17 | g.12992979C= | CA2248421692 | ELAC2 | c.2320G= (p.Asp774=) c.2263G= (p.Asp755=) c.2200G= (p.Asp734=) n.2207G= n.2149G= n.3150G= n.1866G= c.1719G= c.2317G= (p.Asp773=) c.2479G= (p.Asp827=) c.2401G= (p.Asp801=) c.2398G= (p.Asp800=) c.2395G= (p.Asp799=) c.2359G= (p.Asp787=) c.2278G= (p.Asp760=) c.2197G= (p.Asp733=) c.2116G= (p.Asp706=) c.2113G= (p.Asp705=) c.2038G= (p.Asp680=) c.2035G= (p.Asp679=) | |
| 17 | g.12992979C>G | CA398222317 | ELAC2 | c.2320G>C (p.Asp774His) c.2263G>C (p.Asp755His) c.2200G>C (p.Asp734His) n.2207G>C n.2149G>C n.3150G>C n.1866G>C c.1719G>C c.2317G>C (p.Asp773His) c.2479G>C (p.Asp827His) c.2401G>C (p.Asp801His) c.2398G>C (p.Asp800His) c.2395G>C (p.Asp799His) c.2359G>C (p.Asp787His) c.2278G>C (p.Asp760His) c.2197G>C (p.Asp733His) c.2116G>C (p.Asp706His) c.2113G>C (p.Asp705His) c.2038G>C (p.Asp680His) c.2035G>C (p.Asp679His) | |
| 17 | g.12992979C>T | CA8400834 | ELAC2 | c.2320G>A (p.Asp774Asn) c.2263G>A (p.Asp755Asn) c.2200G>A (p.Asp734Asn) n.2207G>A n.2149G>A n.3150G>A n.1866G>A c.1719G>A c.2317G>A (p.Asp773Asn) c.2479G>A (p.Asp827Asn) c.2401G>A (p.Asp801Asn) c.2398G>A (p.Asp800Asn) c.2395G>A (p.Asp799Asn) c.2359G>A (p.Asp787Asn) c.2278G>A (p.Asp760Asn) c.2197G>A (p.Asp733Asn) c.2116G>A (p.Asp706Asn) c.2113G>A (p.Asp705Asn) c.2038G>A (p.Asp680Asn) c.2035G>A (p.Asp679Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.12992980G>A | CA8400835 | ELAC2 | c.2319C>T (p.Gly773=) c.2262C>T (p.Gly754=) c.2199C>T (p.Gly733=) n.2206C>T n.2148C>T n.3149C>T n.1865C>T c.1718C>T c.2316C>T (p.Gly772=) c.2478C>T (p.Gly826=) c.2400C>T (p.Gly800=) c.2397C>T (p.Gly799=) c.2394C>T (p.Gly798=) c.2358C>T (p.Gly786=) c.2277C>T (p.Gly759=) c.2196C>T (p.Gly732=) c.2115C>T (p.Gly705=) c.2112C>T (p.Gly704=) c.2037C>T (p.Gly679=) c.2034C>T (p.Gly678=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.12992980G>C | CA498009657 | ELAC2 | c.2319C>G (p.Gly773=) c.2262C>G (p.Gly754=) c.2199C>G (p.Gly733=) n.2206C>G n.2148C>G n.3149C>G n.1865C>G c.1718C>G c.2316C>G (p.Gly772=) c.2478C>G (p.Gly826=) c.2400C>G (p.Gly800=) c.2397C>G (p.Gly799=) c.2394C>G (p.Gly798=) c.2358C>G (p.Gly786=) c.2277C>G (p.Gly759=) c.2196C>G (p.Gly732=) c.2115C>G (p.Gly705=) c.2112C>G (p.Gly704=) c.2037C>G (p.Gly679=) c.2034C>G (p.Gly678=) | gnomAD v4 |
| 17 | g.12992980G= | CA2248421698 | ELAC2 | c.2319C= (p.Gly773=) c.2262C= (p.Gly754=) c.2199C= (p.Gly733=) n.2206C= n.2148C= n.3149C= n.1865C= c.1718C= c.2316C= (p.Gly772=) c.2478C= (p.Gly826=) c.2400C= (p.Gly800=) c.2397C= (p.Gly799=) c.2394C= (p.Gly798=) c.2358C= (p.Gly786=) c.2277C= (p.Gly759=) c.2196C= (p.Gly732=) c.2115C= (p.Gly705=) c.2112C= (p.Gly704=) c.2037C= (p.Gly679=) c.2034C= (p.Gly678=) | |
| 17 | g.12992980G>T | CA498009658 | ELAC2 | c.2319C>A (p.Gly773=) c.2262C>A (p.Gly754=) c.2199C>A (p.Gly733=) n.2206C>A n.2148C>A n.3149C>A n.1865C>A c.1718C>A c.2316C>A (p.Gly772=) c.2478C>A (p.Gly826=) c.2400C>A (p.Gly800=) c.2397C>A (p.Gly799=) c.2394C>A (p.Gly798=) c.2358C>A (p.Gly786=) c.2277C>A (p.Gly759=) c.2196C>A (p.Gly732=) c.2115C>A (p.Gly705=) c.2112C>A (p.Gly704=) c.2037C>A (p.Gly679=) c.2034C>A (p.Gly678=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.12992981C>A | CA398222319 | ELAC2 | c.2318G>T (p.Gly773Val) c.2261G>T (p.Gly754Val) c.2198G>T (p.Gly733Val) n.2205G>T n.2147G>T n.3148G>T n.1864G>T c.1717G>T c.2315G>T (p.Gly772Val) c.2477G>T (p.Gly826Val) c.2399G>T (p.Gly800Val) c.2396G>T (p.Gly799Val) c.2393G>T (p.Gly798Val) c.2357G>T (p.Gly786Val) c.2276G>T (p.Gly759Val) c.2195G>T (p.Gly732Val) c.2114G>T (p.Gly705Val) c.2111G>T (p.Gly704Val) c.2036G>T (p.Gly679Val) c.2033G>T (p.Gly678Val) | |
| 17 | g.12992981C>G | CA398222318 | ELAC2 | c.2318G>C (p.Gly773Ala) c.2261G>C (p.Gly754Ala) c.2198G>C (p.Gly733Ala) n.2205G>C n.2147G>C n.3148G>C n.1864G>C c.1717G>C c.2315G>C (p.Gly772Ala) c.2477G>C (p.Gly826Ala) c.2399G>C (p.Gly800Ala) c.2396G>C (p.Gly799Ala) c.2393G>C (p.Gly798Ala) c.2357G>C (p.Gly786Ala) c.2276G>C (p.Gly759Ala) c.2195G>C (p.Gly732Ala) c.2114G>C (p.Gly705Ala) c.2111G>C (p.Gly704Ala) c.2036G>C (p.Gly679Ala) c.2033G>C (p.Gly678Ala) | |
| 17 | g.12992981C>T | CA398222320 | ELAC2 | c.2318G>A (p.Gly773Asp) c.2261G>A (p.Gly754Asp) c.2198G>A (p.Gly733Asp) n.2205G>A n.2147G>A n.3148G>A n.1864G>A c.1717G>A c.2315G>A (p.Gly772Asp) c.2477G>A (p.Gly826Asp) c.2399G>A (p.Gly800Asp) c.2396G>A (p.Gly799Asp) c.2393G>A (p.Gly798Asp) c.2357G>A (p.Gly786Asp) c.2276G>A (p.Gly759Asp) c.2195G>A (p.Gly732Asp) c.2114G>A (p.Gly705Asp) c.2111G>A (p.Gly704Asp) c.2036G>A (p.Gly679Asp) c.2033G>A (p.Gly678Asp) | gnomAD v4 |
| 17 | g.12992982C>A | CA398222321 | ELAC2 | c.2317G>T (p.Gly773Cys) c.2260G>T (p.Gly754Cys) c.2197G>T (p.Gly733Cys) n.2204G>T n.2146G>T n.3147G>T n.1863G>T c.1716G>T c.2314G>T (p.Gly772Cys) c.2476G>T (p.Gly826Cys) c.2398G>T (p.Gly800Cys) c.2395G>T (p.Gly799Cys) c.2392G>T (p.Gly798Cys) c.2356G>T (p.Gly786Cys) c.2275G>T (p.Gly759Cys) c.2194G>T (p.Gly732Cys) c.2113G>T (p.Gly705Cys) c.2110G>T (p.Gly704Cys) c.2035G>T (p.Gly679Cys) c.2032G>T (p.Gly678Cys) | |
| 17 | g.12992982C= | CA2248421700 | ELAC2 | c.2317G= (p.Gly773=) c.2260G= (p.Gly754=) c.2197G= (p.Gly733=) n.2204G= n.2146G= n.3147G= n.1863G= c.1716G= c.2314G= (p.Gly772=) c.2476G= (p.Gly826=) c.2398G= (p.Gly800=) c.2395G= (p.Gly799=) c.2392G= (p.Gly798=) c.2356G= (p.Gly786=) c.2275G= (p.Gly759=) c.2194G= (p.Gly732=) c.2113G= (p.Gly705=) c.2110G= (p.Gly704=) c.2035G= (p.Gly679=) c.2032G= (p.Gly678=) |