| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.12992858_12992859del | CA8400792 | ELAC2 | c.2444_2445del (p.Thr815ArgfsTer?) c.2387_2388del (p.Thr796ArgfsTer?) c.2324_2325del (p.Thr775ArgfsTer?) n.2331_2332del n.2273_2274del n.3274_3275del n.1990_1991del c.1843_1844del c.2441_2442del (p.Thr814ArgfsTer?) c.2603_2604del (p.Thr868ArgfsTer?) c.2525_2526del (p.Thr842ArgfsTer?) c.2522_2523del (p.Thr841ArgfsTer?) c.2519_2520del (p.Thr840ArgfsTer?) c.2483_2484del (p.Thr828ArgfsTer?) c.2402_2403del (p.Thr801ArgfsTer?) c.2321_2322del (p.Thr774ArgfsTer?) c.2240_2241del (p.Thr747ArgfsTer?) c.2237_2238del (p.Thr746ArgfsTer?) c.2162_2163del (p.Thr721ArgfsTer?) c.2159_2160del (p.Thr720ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.12992857G>A | CA498009571 | ELAC2 | c.2442C>T (p.His814=) c.2385C>T (p.His795=) c.2322C>T (p.His774=) n.2329C>T n.2271C>T n.3272C>T n.1988C>T c.1841C>T c.2439C>T (p.His813=) c.2601C>T (p.His867=) c.2523C>T (p.His841=) c.2520C>T (p.His840=) c.2517C>T (p.His839=) c.2481C>T (p.His827=) c.2400C>T (p.His800=) c.2319C>T (p.His773=) c.2238C>T (p.His746=) c.2235C>T (p.His745=) c.2160C>T (p.His720=) c.2157C>T (p.His719=) | |
| 17 | g.12992857G>C | CA398222076 | ELAC2 | c.2442C>G (p.His814Gln) c.2385C>G (p.His795Gln) c.2322C>G (p.His774Gln) n.2329C>G n.2271C>G n.3272C>G n.1988C>G c.1841C>G c.2439C>G (p.His813Gln) c.2601C>G (p.His867Gln) c.2523C>G (p.His841Gln) c.2520C>G (p.His840Gln) c.2517C>G (p.His839Gln) c.2481C>G (p.His827Gln) c.2400C>G (p.His800Gln) c.2319C>G (p.His773Gln) c.2238C>G (p.His746Gln) c.2235C>G (p.His745Gln) c.2160C>G (p.His720Gln) c.2157C>G (p.His719Gln) | |
| 17 | g.12992857G>T | CA398222077 | ELAC2 | c.2442C>A (p.His814Gln) c.2385C>A (p.His795Gln) c.2322C>A (p.His774Gln) n.2329C>A n.2271C>A n.3272C>A n.1988C>A c.1841C>A c.2439C>A (p.His813Gln) c.2601C>A (p.His867Gln) c.2523C>A (p.His841Gln) c.2520C>A (p.His840Gln) c.2517C>A (p.His839Gln) c.2481C>A (p.His827Gln) c.2400C>A (p.His800Gln) c.2319C>A (p.His773Gln) c.2238C>A (p.His746Gln) c.2235C>A (p.His745Gln) c.2160C>A (p.His720Gln) c.2157C>A (p.His719Gln) | gnomAD v4 |
| 17 | g.12992858T>A | CA398222078 | ELAC2 | c.2441A>T (p.His814Leu) c.2384A>T (p.His795Leu) c.2321A>T (p.His774Leu) n.2328A>T n.2270A>T n.3271A>T n.1987A>T c.1840A>T c.2438A>T (p.His813Leu) c.2600A>T (p.His867Leu) c.2522A>T (p.His841Leu) c.2519A>T (p.His840Leu) c.2516A>T (p.His839Leu) c.2480A>T (p.His827Leu) c.2399A>T (p.His800Leu) c.2318A>T (p.His773Leu) c.2237A>T (p.His746Leu) c.2234A>T (p.His745Leu) c.2159A>T (p.His720Leu) c.2156A>T (p.His719Leu) | |
| 17 | g.12992858T>C | CA398222079 | ELAC2 | c.2441A>G (p.His814Arg) c.2384A>G (p.His795Arg) c.2321A>G (p.His774Arg) n.2328A>G n.2270A>G n.3271A>G n.1987A>G c.1840A>G c.2438A>G (p.His813Arg) c.2600A>G (p.His867Arg) c.2522A>G (p.His841Arg) c.2519A>G (p.His840Arg) c.2516A>G (p.His839Arg) c.2480A>G (p.His827Arg) c.2399A>G (p.His800Arg) c.2318A>G (p.His773Arg) c.2237A>G (p.His746Arg) c.2234A>G (p.His745Arg) c.2159A>G (p.His720Arg) c.2156A>G (p.His719Arg) | gnomAD v4 |
| 17 | g.12992858T>G | CA398222080 | ELAC2 | c.2441A>C (p.His814Pro) c.2384A>C (p.His795Pro) c.2321A>C (p.His774Pro) n.2328A>C n.2270A>C n.3271A>C n.1987A>C c.1840A>C c.2438A>C (p.His813Pro) c.2600A>C (p.His867Pro) c.2522A>C (p.His841Pro) c.2519A>C (p.His840Pro) c.2516A>C (p.His839Pro) c.2480A>C (p.His827Pro) c.2399A>C (p.His800Pro) c.2318A>C (p.His773Pro) c.2237A>C (p.His746Pro) c.2234A>C (p.His745Pro) c.2159A>C (p.His720Pro) c.2156A>C (p.His719Pro) | |
| 17 | g.12992859G>A | CA398222083 | ELAC2 | c.2440C>T (p.His814Tyr) c.2383C>T (p.His795Tyr) c.2320C>T (p.His774Tyr) n.2327C>T n.2269C>T n.3270C>T n.1986C>T c.1839C>T c.2437C>T (p.His813Tyr) c.2599C>T (p.His867Tyr) c.2521C>T (p.His841Tyr) c.2518C>T (p.His840Tyr) c.2515C>T (p.His839Tyr) c.2479C>T (p.His827Tyr) c.2398C>T (p.His800Tyr) c.2317C>T (p.His773Tyr) c.2236C>T (p.His746Tyr) c.2233C>T (p.His745Tyr) c.2158C>T (p.His720Tyr) c.2155C>T (p.His719Tyr) | COSMIC |
| 17 | g.12992859G>C | CA398222082 | ELAC2 | c.2440C>G (p.His814Asp) c.2383C>G (p.His795Asp) c.2320C>G (p.His774Asp) n.2327C>G n.2269C>G n.3270C>G n.1986C>G c.1839C>G c.2437C>G (p.His813Asp) c.2599C>G (p.His867Asp) c.2521C>G (p.His841Asp) c.2518C>G (p.His840Asp) c.2515C>G (p.His839Asp) c.2479C>G (p.His827Asp) c.2398C>G (p.His800Asp) c.2317C>G (p.His773Asp) c.2236C>G (p.His746Asp) c.2233C>G (p.His745Asp) c.2158C>G (p.His720Asp) c.2155C>G (p.His719Asp) | |
| 17 | g.12992859G>T | CA398222081 | ELAC2 | c.2440C>A (p.His814Asn) c.2383C>A (p.His795Asn) c.2320C>A (p.His774Asn) n.2327C>A n.2269C>A n.3270C>A n.1986C>A c.1839C>A c.2437C>A (p.His813Asn) c.2599C>A (p.His867Asn) c.2521C>A (p.His841Asn) c.2518C>A (p.His840Asn) c.2515C>A (p.His839Asn) c.2479C>A (p.His827Asn) c.2398C>A (p.His800Asn) c.2317C>A (p.His773Asn) c.2236C>A (p.His746Asn) c.2233C>A (p.His745Asn) c.2158C>A (p.His720Asn) c.2155C>A (p.His719Asn) | |
| 17 | g.12992860G>A | CA498009573 | ELAC2 | c.2439C>T (p.Ala813=) c.2382C>T (p.Ala794=) c.2319C>T (p.Ala773=) n.2326C>T n.2268C>T n.3269C>T n.1985C>T c.1838C>T c.2436C>T (p.Ala812=) c.2598C>T (p.Ala866=) c.2520C>T (p.Ala840=) c.2517C>T (p.Ala839=) c.2514C>T (p.Ala838=) c.2478C>T (p.Ala826=) c.2397C>T (p.Ala799=) c.2316C>T (p.Ala772=) c.2235C>T (p.Ala745=) c.2232C>T (p.Ala744=) c.2157C>T (p.Ala719=) c.2154C>T (p.Ala718=) | |
| 17 | g.12992860G>C | CA498009574 | ELAC2 | c.2439C>G (p.Ala813=) c.2382C>G (p.Ala794=) c.2319C>G (p.Ala773=) n.2326C>G n.2268C>G n.3269C>G n.1985C>G c.1838C>G c.2436C>G (p.Ala812=) c.2598C>G (p.Ala866=) c.2520C>G (p.Ala840=) c.2517C>G (p.Ala839=) c.2514C>G (p.Ala838=) c.2478C>G (p.Ala826=) c.2397C>G (p.Ala799=) c.2316C>G (p.Ala772=) c.2235C>G (p.Ala745=) c.2232C>G (p.Ala744=) c.2157C>G (p.Ala719=) c.2154C>G (p.Ala718=) | |
| 17 | g.12992860G>T | CA498009575 | ELAC2 | c.2439C>A (p.Ala813=) c.2382C>A (p.Ala794=) c.2319C>A (p.Ala773=) n.2326C>A n.2268C>A n.3269C>A n.1985C>A c.1838C>A c.2436C>A (p.Ala812=) c.2598C>A (p.Ala866=) c.2520C>A (p.Ala840=) c.2517C>A (p.Ala839=) c.2514C>A (p.Ala838=) c.2478C>A (p.Ala826=) c.2397C>A (p.Ala799=) c.2316C>A (p.Ala772=) c.2235C>A (p.Ala745=) c.2232C>A (p.Ala744=) c.2157C>A (p.Ala719=) c.2154C>A (p.Ala718=) | gnomAD v4 |
| 17 | g.12992861G>A | CA398222084 | ELAC2 | c.2438C>T (p.Ala813Val) c.2381C>T (p.Ala794Val) c.2318C>T (p.Ala773Val) n.2325C>T n.2267C>T n.3268C>T n.1984C>T c.1837C>T c.2435C>T (p.Ala812Val) c.2597C>T (p.Ala866Val) c.2519C>T (p.Ala840Val) c.2516C>T (p.Ala839Val) c.2513C>T (p.Ala838Val) c.2477C>T (p.Ala826Val) c.2396C>T (p.Ala799Val) c.2315C>T (p.Ala772Val) c.2234C>T (p.Ala745Val) c.2231C>T (p.Ala744Val) c.2156C>T (p.Ala719Val) c.2153C>T (p.Ala718Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.12992861G>C | CA398222085 | ELAC2 | c.2438C>G (p.Ala813Gly) c.2381C>G (p.Ala794Gly) c.2318C>G (p.Ala773Gly) n.2325C>G n.2267C>G n.3268C>G n.1984C>G c.1837C>G c.2435C>G (p.Ala812Gly) c.2597C>G (p.Ala866Gly) c.2519C>G (p.Ala840Gly) c.2516C>G (p.Ala839Gly) c.2513C>G (p.Ala838Gly) c.2477C>G (p.Ala826Gly) c.2396C>G (p.Ala799Gly) c.2315C>G (p.Ala772Gly) c.2234C>G (p.Ala745Gly) c.2231C>G (p.Ala744Gly) c.2156C>G (p.Ala719Gly) c.2153C>G (p.Ala718Gly) | gnomAD v4 |
| 17 | g.12992861G= | CA2248421376 | ELAC2 | c.2438C= (p.Ala813=) c.2381C= (p.Ala794=) c.2318C= (p.Ala773=) n.2325C= n.2267C= n.3268C= n.1984C= c.1837C= c.2435C= (p.Ala812=) c.2597C= (p.Ala866=) c.2519C= (p.Ala840=) c.2516C= (p.Ala839=) c.2513C= (p.Ala838=) c.2477C= (p.Ala826=) c.2396C= (p.Ala799=) c.2315C= (p.Ala772=) c.2234C= (p.Ala745=) c.2231C= (p.Ala744=) c.2156C= (p.Ala719=) c.2153C= (p.Ala718=) | |
| 17 | g.12992861G>T | CA398222086 | ELAC2 | c.2438C>A (p.Ala813Asp) c.2381C>A (p.Ala794Asp) c.2318C>A (p.Ala773Asp) n.2325C>A n.2267C>A n.3268C>A n.1984C>A c.1837C>A c.2435C>A (p.Ala812Asp) c.2597C>A (p.Ala866Asp) c.2519C>A (p.Ala840Asp) c.2516C>A (p.Ala839Asp) c.2513C>A (p.Ala838Asp) c.2477C>A (p.Ala826Asp) c.2396C>A (p.Ala799Asp) c.2315C>A (p.Ala772Asp) c.2234C>A (p.Ala745Asp) c.2231C>A (p.Ala744Asp) c.2156C>A (p.Ala719Asp) c.2153C>A (p.Ala718Asp) | |
| 17 | g.12992862C>A | CA398222087 | ELAC2 | c.2437G>T (p.Ala813Ser) c.2380G>T (p.Ala794Ser) c.2317G>T (p.Ala773Ser) n.2324G>T n.2266G>T n.3267G>T n.1983G>T c.1836G>T c.2434G>T (p.Ala812Ser) c.2596G>T (p.Ala866Ser) c.2518G>T (p.Ala840Ser) c.2515G>T (p.Ala839Ser) c.2512G>T (p.Ala838Ser) c.2476G>T (p.Ala826Ser) c.2395G>T (p.Ala799Ser) c.2314G>T (p.Ala772Ser) c.2233G>T (p.Ala745Ser) c.2230G>T (p.Ala744Ser) c.2155G>T (p.Ala719Ser) c.2152G>T (p.Ala718Ser) | gnomAD v4 |
| 17 | g.12992862C= | CA2248421379 | ELAC2 | c.2437G= (p.Ala813=) c.2380G= (p.Ala794=) c.2317G= (p.Ala773=) n.2324G= n.2266G= n.3267G= n.1983G= c.1836G= c.2434G= (p.Ala812=) c.2596G= (p.Ala866=) c.2518G= (p.Ala840=) c.2515G= (p.Ala839=) c.2512G= (p.Ala838=) c.2476G= (p.Ala826=) c.2395G= (p.Ala799=) c.2314G= (p.Ala772=) c.2233G= (p.Ala745=) c.2230G= (p.Ala744=) c.2155G= (p.Ala719=) c.2152G= (p.Ala718=) | |
| 17 | g.12992862C>G | CA8400793 | ELAC2 | c.2437G>C (p.Ala813Pro) c.2380G>C (p.Ala794Pro) c.2317G>C (p.Ala773Pro) n.2324G>C n.2266G>C n.3267G>C n.1983G>C c.1836G>C c.2434G>C (p.Ala812Pro) c.2596G>C (p.Ala866Pro) c.2518G>C (p.Ala840Pro) c.2515G>C (p.Ala839Pro) c.2512G>C (p.Ala838Pro) c.2476G>C (p.Ala826Pro) c.2395G>C (p.Ala799Pro) c.2314G>C (p.Ala772Pro) c.2233G>C (p.Ala745Pro) c.2230G>C (p.Ala744Pro) c.2155G>C (p.Ala719Pro) c.2152G>C (p.Ala718Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.12992862C>T | CA398222088 | ELAC2 | c.2437G>A (p.Ala813Thr) c.2380G>A (p.Ala794Thr) c.2317G>A (p.Ala773Thr) n.2324G>A n.2266G>A n.3267G>A n.1983G>A c.1836G>A c.2434G>A (p.Ala812Thr) c.2596G>A (p.Ala866Thr) c.2518G>A (p.Ala840Thr) c.2515G>A (p.Ala839Thr) c.2512G>A (p.Ala838Thr) c.2476G>A (p.Ala826Thr) c.2395G>A (p.Ala799Thr) c.2314G>A (p.Ala772Thr) c.2233G>A (p.Ala745Thr) c.2230G>A (p.Ala744Thr) c.2155G>A (p.Ala719Thr) c.2152G>A (p.Ala718Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.12992863C>A | CA498009576 | ELAC2 | c.2436G>T (p.Arg812=) c.2379G>T (p.Arg793=) c.2316G>T (p.Arg772=) n.2323G>T n.2265G>T n.3266G>T n.1982G>T c.1835G>T c.2433G>T (p.Arg811=) c.2595G>T (p.Arg865=) c.2517G>T (p.Arg839=) c.2514G>T (p.Arg838=) c.2511G>T (p.Arg837=) c.2475G>T (p.Arg825=) c.2394G>T (p.Arg798=) c.2313G>T (p.Arg771=) c.2232G>T (p.Arg744=) c.2229G>T (p.Arg743=) c.2154G>T (p.Arg718=) c.2151G>T (p.Arg717=) | |
| 17 | g.12992863C= | CA2248421381 | ELAC2 | c.2436G= (p.Arg812=) c.2379G= (p.Arg793=) c.2316G= (p.Arg772=) n.2323G= n.2265G= n.3266G= n.1982G= c.1835G= c.2433G= (p.Arg811=) c.2595G= (p.Arg865=) c.2517G= (p.Arg839=) c.2514G= (p.Arg838=) c.2511G= (p.Arg837=) c.2475G= (p.Arg825=) c.2394G= (p.Arg798=) c.2313G= (p.Arg771=) c.2232G= (p.Arg744=) c.2229G= (p.Arg743=) c.2154G= (p.Arg718=) c.2151G= (p.Arg717=) | |
| 17 | g.12992863C>G | CA498009577 | ELAC2 | c.2436G>C (p.Arg812=) c.2379G>C (p.Arg793=) c.2316G>C (p.Arg772=) n.2323G>C n.2265G>C n.3266G>C n.1982G>C c.1835G>C c.2433G>C (p.Arg811=) c.2595G>C (p.Arg865=) c.2517G>C (p.Arg839=) c.2514G>C (p.Arg838=) c.2511G>C (p.Arg837=) c.2475G>C (p.Arg825=) c.2394G>C (p.Arg798=) c.2313G>C (p.Arg771=) c.2232G>C (p.Arg744=) c.2229G>C (p.Arg743=) c.2154G>C (p.Arg718=) c.2151G>C (p.Arg717=) | |
| 17 | g.12992863C>T | CA498009578 | ELAC2 | c.2436G>A (p.Arg812=) c.2379G>A (p.Arg793=) c.2316G>A (p.Arg772=) n.2323G>A n.2265G>A n.3266G>A n.1982G>A c.1835G>A c.2433G>A (p.Arg811=) c.2595G>A (p.Arg865=) c.2517G>A (p.Arg839=) c.2514G>A (p.Arg838=) c.2511G>A (p.Arg837=) c.2475G>A (p.Arg825=) c.2394G>A (p.Arg798=) c.2313G>A (p.Arg771=) c.2232G>A (p.Arg744=) c.2229G>A (p.Arg743=) c.2154G>A (p.Arg718=) c.2151G>A (p.Arg717=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.12992864C>A | CA8400794 | ELAC2 | c.2435G>T (p.Arg812Leu) c.2378G>T (p.Arg793Leu) c.2315G>T (p.Arg772Leu) n.2322G>T n.2264G>T n.3265G>T n.1981G>T c.1834G>T c.2432G>T (p.Arg811Leu) c.2594G>T (p.Arg865Leu) c.2516G>T (p.Arg839Leu) c.2513G>T (p.Arg838Leu) c.2510G>T (p.Arg837Leu) c.2474G>T (p.Arg825Leu) c.2393G>T (p.Arg798Leu) c.2312G>T (p.Arg771Leu) c.2231G>T (p.Arg744Leu) c.2228G>T (p.Arg743Leu) c.2153G>T (p.Arg718Leu) c.2150G>T (p.Arg717Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.12992864C= | CA2248421384 | ELAC2 | c.2435G= (p.Arg812=) c.2378G= (p.Arg793=) c.2315G= (p.Arg772=) n.2322G= n.2264G= n.3265G= n.1981G= c.1834G= c.2432G= (p.Arg811=) c.2594G= (p.Arg865=) c.2516G= (p.Arg839=) c.2513G= (p.Arg838=) c.2510G= (p.Arg837=) c.2474G= (p.Arg825=) c.2393G= (p.Arg798=) c.2312G= (p.Arg771=) c.2231G= (p.Arg744=) c.2228G= (p.Arg743=) c.2153G= (p.Arg718=) c.2150G= (p.Arg717=) | |
| 17 | g.12992864C>G | CA398222090 | ELAC2 | c.2435G>C (p.Arg812Pro) c.2378G>C (p.Arg793Pro) c.2315G>C (p.Arg772Pro) n.2322G>C n.2264G>C n.3265G>C n.1981G>C c.1834G>C c.2432G>C (p.Arg811Pro) c.2594G>C (p.Arg865Pro) c.2516G>C (p.Arg839Pro) c.2513G>C (p.Arg838Pro) c.2510G>C (p.Arg837Pro) c.2474G>C (p.Arg825Pro) c.2393G>C (p.Arg798Pro) c.2312G>C (p.Arg771Pro) c.2231G>C (p.Arg744Pro) c.2228G>C (p.Arg743Pro) c.2153G>C (p.Arg718Pro) c.2150G>C (p.Arg717Pro) | gnomAD v4 |
| 17 | g.12992864C>T | CA398222089 | ELAC2 | c.2435G>A (p.Arg812Gln) c.2378G>A (p.Arg793Gln) c.2315G>A (p.Arg772Gln) n.2322G>A n.2264G>A n.3265G>A n.1981G>A c.1834G>A c.2432G>A (p.Arg811Gln) c.2594G>A (p.Arg865Gln) c.2516G>A (p.Arg839Gln) c.2513G>A (p.Arg838Gln) c.2510G>A (p.Arg837Gln) c.2474G>A (p.Arg825Gln) c.2393G>A (p.Arg798Gln) c.2312G>A (p.Arg771Gln) c.2231G>A (p.Arg744Gln) c.2228G>A (p.Arg743Gln) c.2153G>A (p.Arg718Gln) c.2150G>A (p.Arg717Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.12992865G>A | CA8400795 | ELAC2 | c.2434C>T (p.Arg812Trp) c.2377C>T (p.Arg793Trp) c.2314C>T (p.Arg772Trp) n.2321C>T n.2263C>T n.3264C>T n.1980C>T c.1833C>T c.2431C>T (p.Arg811Trp) c.2593C>T (p.Arg865Trp) c.2515C>T (p.Arg839Trp) c.2512C>T (p.Arg838Trp) c.2509C>T (p.Arg837Trp) c.2473C>T (p.Arg825Trp) c.2392C>T (p.Arg798Trp) c.2311C>T (p.Arg771Trp) c.2230C>T (p.Arg744Trp) c.2227C>T (p.Arg743Trp) c.2152C>T (p.Arg718Trp) c.2149C>T (p.Arg717Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.12992865G>C | CA398222091 | ELAC2 | c.2434C>G (p.Arg812Gly) c.2377C>G (p.Arg793Gly) c.2314C>G (p.Arg772Gly) n.2321C>G n.2263C>G n.3264C>G n.1980C>G c.1833C>G c.2431C>G (p.Arg811Gly) c.2593C>G (p.Arg865Gly) c.2515C>G (p.Arg839Gly) c.2512C>G (p.Arg838Gly) c.2509C>G (p.Arg837Gly) c.2473C>G (p.Arg825Gly) c.2392C>G (p.Arg798Gly) c.2311C>G (p.Arg771Gly) c.2230C>G (p.Arg744Gly) c.2227C>G (p.Arg743Gly) c.2152C>G (p.Arg718Gly) c.2149C>G (p.Arg717Gly) | |
| 17 | g.12992865G= | CA2248421388 | ELAC2 | c.2434C= (p.Arg812=) c.2377C= (p.Arg793=) c.2314C= (p.Arg772=) n.2321C= n.2263C= n.3264C= n.1980C= c.1833C= c.2431C= (p.Arg811=) c.2593C= (p.Arg865=) c.2515C= (p.Arg839=) c.2512C= (p.Arg838=) c.2509C= (p.Arg837=) c.2473C= (p.Arg825=) c.2392C= (p.Arg798=) c.2311C= (p.Arg771=) c.2230C= (p.Arg744=) c.2227C= (p.Arg743=) c.2152C= (p.Arg718=) c.2149C= (p.Arg717=) | |
| 17 | g.12992865G>T | CA498009579 | ELAC2 | c.2434C>A (p.Arg812=) c.2377C>A (p.Arg793=) c.2314C>A (p.Arg772=) n.2321C>A n.2263C>A n.3264C>A n.1980C>A c.1833C>A c.2431C>A (p.Arg811=) c.2593C>A (p.Arg865=) c.2515C>A (p.Arg839=) c.2512C>A (p.Arg838=) c.2509C>A (p.Arg837=) c.2473C>A (p.Arg825=) c.2392C>A (p.Arg798=) c.2311C>A (p.Arg771=) c.2230C>A (p.Arg744=) c.2227C>A (p.Arg743=) c.2152C>A (p.Arg718=) c.2149C>A (p.Arg717=) | |
| 17 | g.12992866C>A | CA398222092 | ELAC2 | c.2433G>T (p.Lys811Asn) c.2376G>T (p.Lys792Asn) c.2313G>T (p.Lys771Asn) n.2320G>T n.2262G>T n.3263G>T n.1979G>T c.1832G>T c.2430G>T (p.Lys810Asn) c.2592G>T (p.Lys864Asn) c.2514G>T (p.Lys838Asn) c.2511G>T (p.Lys837Asn) c.2508G>T (p.Lys836Asn) c.2472G>T (p.Lys824Asn) c.2391G>T (p.Lys797Asn) c.2310G>T (p.Lys770Asn) c.2229G>T (p.Lys743Asn) c.2226G>T (p.Lys742Asn) c.2151G>T (p.Lys717Asn) c.2148G>T (p.Lys716Asn) | |
| 17 | g.12992866C>G | CA398222093 | ELAC2 | c.2433G>C (p.Lys811Asn) c.2376G>C (p.Lys792Asn) c.2313G>C (p.Lys771Asn) n.2320G>C n.2262G>C n.3263G>C n.1979G>C c.1832G>C c.2430G>C (p.Lys810Asn) c.2592G>C (p.Lys864Asn) c.2514G>C (p.Lys838Asn) c.2511G>C (p.Lys837Asn) c.2508G>C (p.Lys836Asn) c.2472G>C (p.Lys824Asn) c.2391G>C (p.Lys797Asn) c.2310G>C (p.Lys770Asn) c.2229G>C (p.Lys743Asn) c.2226G>C (p.Lys742Asn) c.2151G>C (p.Lys717Asn) c.2148G>C (p.Lys716Asn) | |
| 17 | g.12992866C>T | CA498009580 | ELAC2 | c.2433G>A (p.Lys811=) c.2376G>A (p.Lys792=) c.2313G>A (p.Lys771=) n.2320G>A n.2262G>A n.3263G>A n.1979G>A c.1832G>A c.2430G>A (p.Lys810=) c.2592G>A (p.Lys864=) c.2514G>A (p.Lys838=) c.2511G>A (p.Lys837=) c.2508G>A (p.Lys836=) c.2472G>A (p.Lys824=) c.2391G>A (p.Lys797=) c.2310G>A (p.Lys770=) c.2229G>A (p.Lys743=) c.2226G>A (p.Lys742=) c.2151G>A (p.Lys717=) c.2148G>A (p.Lys716=) | dbSNP |
| 17 | g.12992867T>A | CA398222094 | ELAC2 | c.2432A>T (p.Lys811Met) c.2375A>T (p.Lys792Met) c.2312A>T (p.Lys771Met) n.2319A>T n.2261A>T n.3262A>T n.1978A>T c.1831A>T c.2429A>T (p.Lys810Met) c.2591A>T (p.Lys864Met) c.2513A>T (p.Lys838Met) c.2510A>T (p.Lys837Met) c.2507A>T (p.Lys836Met) c.2471A>T (p.Lys824Met) c.2390A>T (p.Lys797Met) c.2309A>T (p.Lys770Met) c.2228A>T (p.Lys743Met) c.2225A>T (p.Lys742Met) c.2150A>T (p.Lys717Met) c.2147A>T (p.Lys716Met) | |
| 17 | g.12992867T>C | CA398222095 | ELAC2 | c.2432A>G (p.Lys811Arg) c.2375A>G (p.Lys792Arg) c.2312A>G (p.Lys771Arg) n.2319A>G n.2261A>G n.3262A>G n.1978A>G c.1831A>G c.2429A>G (p.Lys810Arg) c.2591A>G (p.Lys864Arg) c.2513A>G (p.Lys838Arg) c.2510A>G (p.Lys837Arg) c.2507A>G (p.Lys836Arg) c.2471A>G (p.Lys824Arg) c.2390A>G (p.Lys797Arg) c.2309A>G (p.Lys770Arg) c.2228A>G (p.Lys743Arg) c.2225A>G (p.Lys742Arg) c.2150A>G (p.Lys717Arg) c.2147A>G (p.Lys716Arg) | |
| 17 | g.12992867T>G | CA398222096 | ELAC2 | c.2432A>C (p.Lys811Thr) c.2375A>C (p.Lys792Thr) c.2312A>C (p.Lys771Thr) n.2319A>C n.2261A>C n.3262A>C n.1978A>C c.1831A>C c.2429A>C (p.Lys810Thr) c.2591A>C (p.Lys864Thr) c.2513A>C (p.Lys838Thr) c.2510A>C (p.Lys837Thr) c.2507A>C (p.Lys836Thr) c.2471A>C (p.Lys824Thr) c.2390A>C (p.Lys797Thr) c.2309A>C (p.Lys770Thr) c.2228A>C (p.Lys743Thr) c.2225A>C (p.Lys742Thr) c.2150A>C (p.Lys717Thr) c.2147A>C (p.Lys716Thr) | |
| 17 | g.12992868T>A | CA398222097 | ELAC2 | c.2431A>T (p.Lys811Ter) c.2374A>T (p.Lys792Ter) c.2311A>T (p.Lys771Ter) n.2318A>T n.2260A>T n.3261A>T n.1977A>T c.1830A>T c.2428A>T (p.Lys810Ter) c.2590A>T (p.Lys864Ter) c.2512A>T (p.Lys838Ter) c.2509A>T (p.Lys837Ter) c.2506A>T (p.Lys836Ter) c.2470A>T (p.Lys824Ter) c.2389A>T (p.Lys797Ter) c.2308A>T (p.Lys770Ter) c.2227A>T (p.Lys743Ter) c.2224A>T (p.Lys742Ter) c.2149A>T (p.Lys717Ter) c.2146A>T (p.Lys716Ter) | |
| 17 | g.12992868T>C | CA8400796 | ELAC2 | c.2431A>G (p.Lys811Glu) c.2374A>G (p.Lys792Glu) c.2311A>G (p.Lys771Glu) n.2318A>G n.2260A>G n.3261A>G n.1977A>G c.1830A>G c.2428A>G (p.Lys810Glu) c.2590A>G (p.Lys864Glu) c.2512A>G (p.Lys838Glu) c.2509A>G (p.Lys837Glu) c.2506A>G (p.Lys836Glu) c.2470A>G (p.Lys824Glu) c.2389A>G (p.Lys797Glu) c.2308A>G (p.Lys770Glu) c.2227A>G (p.Lys743Glu) c.2224A>G (p.Lys742Glu) c.2149A>G (p.Lys717Glu) c.2146A>G (p.Lys716Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.12992868T>G | CA398222098 | ELAC2 | c.2431A>C (p.Lys811Gln) c.2374A>C (p.Lys792Gln) c.2311A>C (p.Lys771Gln) n.2318A>C n.2260A>C n.3261A>C n.1977A>C c.1830A>C c.2428A>C (p.Lys810Gln) c.2590A>C (p.Lys864Gln) c.2512A>C (p.Lys838Gln) c.2509A>C (p.Lys837Gln) c.2506A>C (p.Lys836Gln) c.2470A>C (p.Lys824Gln) c.2389A>C (p.Lys797Gln) c.2308A>C (p.Lys770Gln) c.2227A>C (p.Lys743Gln) c.2224A>C (p.Lys742Gln) c.2149A>C (p.Lys717Gln) c.2146A>C (p.Lys716Gln) | |
| 17 | g.12992868T= | CA2248421391 | ELAC2 | c.2431A= (p.Lys811=) c.2374A= (p.Lys792=) c.2311A= (p.Lys771=) n.2318A= n.2260A= n.3261A= n.1977A= c.1830A= c.2428A= (p.Lys810=) c.2590A= (p.Lys864=) c.2512A= (p.Lys838=) c.2509A= (p.Lys837=) c.2506A= (p.Lys836=) c.2470A= (p.Lys824=) c.2389A= (p.Lys797=) c.2308A= (p.Lys770=) c.2227A= (p.Lys743=) c.2224A= (p.Lys742=) c.2149A= (p.Lys717=) c.2146A= (p.Lys716=) | |
| 17 | g.12992869C>A | CA398222099 | ELAC2 | c.2430G>T (p.Gln810His) c.2373G>T (p.Gln791His) c.2310G>T (p.Gln770His) n.2317G>T n.2259G>T n.3260G>T n.1976G>T c.1829G>T c.2427G>T (p.Gln809His) c.2589G>T (p.Gln863His) c.2511G>T (p.Gln837His) c.2508G>T (p.Gln836His) c.2505G>T (p.Gln835His) c.2469G>T (p.Gln823His) c.2388G>T (p.Gln796His) c.2307G>T (p.Gln769His) c.2226G>T (p.Gln742His) c.2223G>T (p.Gln741His) c.2148G>T (p.Gln716His) c.2145G>T (p.Gln715His) | |
| 17 | g.12992869C>G | CA398222100 | ELAC2 | c.2430G>C (p.Gln810His) c.2373G>C (p.Gln791His) c.2310G>C (p.Gln770His) n.2317G>C n.2259G>C n.3260G>C n.1976G>C c.1829G>C c.2427G>C (p.Gln809His) c.2589G>C (p.Gln863His) c.2511G>C (p.Gln837His) c.2508G>C (p.Gln836His) c.2505G>C (p.Gln835His) c.2469G>C (p.Gln823His) c.2388G>C (p.Gln796His) c.2307G>C (p.Gln769His) c.2226G>C (p.Gln742His) c.2223G>C (p.Gln741His) c.2148G>C (p.Gln716His) c.2145G>C (p.Gln715His) | gnomAD v4 |
| 17 | g.12992869C>T | CA498009581 | ELAC2 | c.2430G>A (p.Gln810=) c.2373G>A (p.Gln791=) c.2310G>A (p.Gln770=) n.2317G>A n.2259G>A n.3260G>A n.1976G>A c.1829G>A c.2427G>A (p.Gln809=) c.2589G>A (p.Gln863=) c.2511G>A (p.Gln837=) c.2508G>A (p.Gln836=) c.2505G>A (p.Gln835=) c.2469G>A (p.Gln823=) c.2388G>A (p.Gln796=) c.2307G>A (p.Gln769=) c.2226G>A (p.Gln742=) c.2223G>A (p.Gln741=) c.2148G>A (p.Gln716=) c.2145G>A (p.Gln715=) | |
| 17 | g.12992870T>A | CA398222102 | ELAC2 | c.2429A>T (p.Gln810Leu) c.2372A>T (p.Gln791Leu) c.2309A>T (p.Gln770Leu) n.2316A>T n.2258A>T n.3259A>T n.1975A>T c.1828A>T c.2426A>T (p.Gln809Leu) c.2588A>T (p.Gln863Leu) c.2510A>T (p.Gln837Leu) c.2507A>T (p.Gln836Leu) c.2504A>T (p.Gln835Leu) c.2468A>T (p.Gln823Leu) c.2387A>T (p.Gln796Leu) c.2306A>T (p.Gln769Leu) c.2225A>T (p.Gln742Leu) c.2222A>T (p.Gln741Leu) c.2147A>T (p.Gln716Leu) c.2144A>T (p.Gln715Leu) | |
| 17 | g.12992870T>C | CA398222103 | ELAC2 | c.2429A>G (p.Gln810Arg) c.2372A>G (p.Gln791Arg) c.2309A>G (p.Gln770Arg) n.2316A>G n.2258A>G n.3259A>G n.1975A>G c.1828A>G c.2426A>G (p.Gln809Arg) c.2588A>G (p.Gln863Arg) c.2510A>G (p.Gln837Arg) c.2507A>G (p.Gln836Arg) c.2504A>G (p.Gln835Arg) c.2468A>G (p.Gln823Arg) c.2387A>G (p.Gln796Arg) c.2306A>G (p.Gln769Arg) c.2225A>G (p.Gln742Arg) c.2222A>G (p.Gln741Arg) c.2147A>G (p.Gln716Arg) c.2144A>G (p.Gln715Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.12992870T>G | CA398222101 | ELAC2 | c.2429A>C (p.Gln810Pro) c.2372A>C (p.Gln791Pro) c.2309A>C (p.Gln770Pro) n.2316A>C n.2258A>C n.3259A>C n.1975A>C c.1828A>C c.2426A>C (p.Gln809Pro) c.2588A>C (p.Gln863Pro) c.2510A>C (p.Gln837Pro) c.2507A>C (p.Gln836Pro) c.2504A>C (p.Gln835Pro) c.2468A>C (p.Gln823Pro) c.2387A>C (p.Gln796Pro) c.2306A>C (p.Gln769Pro) c.2225A>C (p.Gln742Pro) c.2222A>C (p.Gln741Pro) c.2147A>C (p.Gln716Pro) c.2144A>C (p.Gln715Pro) | |
| 17 | g.12992870T= | CA2248421394 | ELAC2 | c.2429A= (p.Gln810=) c.2372A= (p.Gln791=) c.2309A= (p.Gln770=) n.2316A= n.2258A= n.3259A= n.1975A= c.1828A= c.2426A= (p.Gln809=) c.2588A= (p.Gln863=) c.2510A= (p.Gln837=) c.2507A= (p.Gln836=) c.2504A= (p.Gln835=) c.2468A= (p.Gln823=) c.2387A= (p.Gln796=) c.2306A= (p.Gln769=) c.2225A= (p.Gln742=) c.2222A= (p.Gln741=) c.2147A= (p.Gln716=) c.2144A= (p.Gln715=) |