Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.12992872C>A | CA398222107 | ELAC2 | c.2427G>T (p.Gln809His) c.2370G>T (p.Gln790His) c.2307G>T (p.Gln769His) n.2314G>T n.2256G>T n.3257G>T n.1973G>T c.1826G>T c.2424G>T (p.Gln808His) c.2586G>T (p.Gln862His) c.2508G>T (p.Gln836His) c.2505G>T (p.Gln835His) c.2502G>T (p.Gln834His) c.2466G>T (p.Gln822His) c.2385G>T (p.Gln795His) c.2304G>T (p.Gln768His) c.2223G>T (p.Gln741His) c.2220G>T (p.Gln740His) c.2145G>T (p.Gln715His) c.2142G>T (p.Gln714His) | |
17 | g.12992872C= | CA2248421398 | ELAC2 | c.2427G= (p.Gln809=) c.2370G= (p.Gln790=) c.2307G= (p.Gln769=) n.2314G= n.2256G= n.3257G= n.1973G= c.1826G= c.2424G= (p.Gln808=) c.2586G= (p.Gln862=) c.2508G= (p.Gln836=) c.2505G= (p.Gln835=) c.2502G= (p.Gln834=) c.2466G= (p.Gln822=) c.2385G= (p.Gln795=) c.2304G= (p.Gln768=) c.2223G= (p.Gln741=) c.2220G= (p.Gln740=) c.2145G= (p.Gln715=) c.2142G= (p.Gln714=) | |
17 | g.12992872C>G | CA398222108 | ELAC2 | c.2427G>C (p.Gln809His) c.2370G>C (p.Gln790His) c.2307G>C (p.Gln769His) n.2314G>C n.2256G>C n.3257G>C n.1973G>C c.1826G>C c.2424G>C (p.Gln808His) c.2586G>C (p.Gln862His) c.2508G>C (p.Gln836His) c.2505G>C (p.Gln835His) c.2502G>C (p.Gln834His) c.2466G>C (p.Gln822His) c.2385G>C (p.Gln795His) c.2304G>C (p.Gln768His) c.2223G>C (p.Gln741His) c.2220G>C (p.Gln740His) c.2145G>C (p.Gln715His) c.2142G>C (p.Gln714His) | |
17 | g.12992872C>T | CA8400797 | ELAC2 | c.2427G>A (p.Gln809=) c.2370G>A (p.Gln790=) c.2307G>A (p.Gln769=) n.2314G>A n.2256G>A n.3257G>A n.1973G>A c.1826G>A c.2424G>A (p.Gln808=) c.2586G>A (p.Gln862=) c.2508G>A (p.Gln836=) c.2505G>A (p.Gln835=) c.2502G>A (p.Gln834=) c.2466G>A (p.Gln822=) c.2385G>A (p.Gln795=) c.2304G>A (p.Gln768=) c.2223G>A (p.Gln741=) c.2220G>A (p.Gln740=) c.2145G>A (p.Gln715=) c.2142G>A (p.Gln714=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.12992873T>A | CA288074940 | ELAC2 | c.2426A>T (p.Gln809Leu) c.2369A>T (p.Gln790Leu) c.2306A>T (p.Gln769Leu) n.2313A>T n.2255A>T n.3256A>T n.1972A>T c.1825A>T c.2423A>T (p.Gln808Leu) c.2585A>T (p.Gln862Leu) c.2507A>T (p.Gln836Leu) c.2504A>T (p.Gln835Leu) c.2501A>T (p.Gln834Leu) c.2465A>T (p.Gln822Leu) c.2384A>T (p.Gln795Leu) c.2303A>T (p.Gln768Leu) c.2222A>T (p.Gln741Leu) c.2219A>T (p.Gln740Leu) c.2144A>T (p.Gln715Leu) c.2141A>T (p.Gln714Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992873T>C | CA398222110 | ELAC2 | c.2426A>G (p.Gln809Arg) c.2369A>G (p.Gln790Arg) c.2306A>G (p.Gln769Arg) n.2313A>G n.2255A>G n.3256A>G n.1972A>G c.1825A>G c.2423A>G (p.Gln808Arg) c.2585A>G (p.Gln862Arg) c.2507A>G (p.Gln836Arg) c.2504A>G (p.Gln835Arg) c.2501A>G (p.Gln834Arg) c.2465A>G (p.Gln822Arg) c.2384A>G (p.Gln795Arg) c.2303A>G (p.Gln768Arg) c.2222A>G (p.Gln741Arg) c.2219A>G (p.Gln740Arg) c.2144A>G (p.Gln715Arg) c.2141A>G (p.Gln714Arg) | gnomAD v4 |
17 | g.12992873T>G | CA398222109 | ELAC2 | c.2426A>C (p.Gln809Pro) c.2369A>C (p.Gln790Pro) c.2306A>C (p.Gln769Pro) n.2313A>C n.2255A>C n.3256A>C n.1972A>C c.1825A>C c.2423A>C (p.Gln808Pro) c.2585A>C (p.Gln862Pro) c.2507A>C (p.Gln836Pro) c.2504A>C (p.Gln835Pro) c.2501A>C (p.Gln834Pro) c.2465A>C (p.Gln822Pro) c.2384A>C (p.Gln795Pro) c.2303A>C (p.Gln768Pro) c.2222A>C (p.Gln741Pro) c.2219A>C (p.Gln740Pro) c.2144A>C (p.Gln715Pro) c.2141A>C (p.Gln714Pro) | |
17 | g.12992873T= | CA2248421402 | ELAC2 | c.2426A= (p.Gln809=) c.2369A= (p.Gln790=) c.2306A= (p.Gln769=) n.2313A= n.2255A= n.3256A= n.1972A= c.1825A= c.2423A= (p.Gln808=) c.2585A= (p.Gln862=) c.2507A= (p.Gln836=) c.2504A= (p.Gln835=) c.2501A= (p.Gln834=) c.2465A= (p.Gln822=) c.2384A= (p.Gln795=) c.2303A= (p.Gln768=) c.2222A= (p.Gln741=) c.2219A= (p.Gln740=) c.2144A= (p.Gln715=) c.2141A= (p.Gln714=) | |
17 | g.12992874G>A | CA398222111 | ELAC2 | c.2425C>T (p.Gln809Ter) c.2368C>T (p.Gln790Ter) c.2305C>T (p.Gln769Ter) n.2312C>T n.2254C>T n.3255C>T n.1971C>T c.1824C>T c.2422C>T (p.Gln808Ter) c.2584C>T (p.Gln862Ter) c.2506C>T (p.Gln836Ter) c.2503C>T (p.Gln835Ter) c.2500C>T (p.Gln834Ter) c.2464C>T (p.Gln822Ter) c.2383C>T (p.Gln795Ter) c.2302C>T (p.Gln768Ter) c.2221C>T (p.Gln741Ter) c.2218C>T (p.Gln740Ter) c.2143C>T (p.Gln715Ter) c.2140C>T (p.Gln714Ter) | |
17 | g.12992874G>C | CA398222113 | ELAC2 | c.2425C>G (p.Gln809Glu) c.2368C>G (p.Gln790Glu) c.2305C>G (p.Gln769Glu) n.2312C>G n.2254C>G n.3255C>G n.1971C>G c.1824C>G c.2422C>G (p.Gln808Glu) c.2584C>G (p.Gln862Glu) c.2506C>G (p.Gln836Glu) c.2503C>G (p.Gln835Glu) c.2500C>G (p.Gln834Glu) c.2464C>G (p.Gln822Glu) c.2383C>G (p.Gln795Glu) c.2302C>G (p.Gln768Glu) c.2221C>G (p.Gln741Glu) c.2218C>G (p.Gln740Glu) c.2143C>G (p.Gln715Glu) c.2140C>G (p.Gln714Glu) | |
17 | g.12992874G>T | CA398222112 | ELAC2 | c.2425C>A (p.Gln809Lys) c.2368C>A (p.Gln790Lys) c.2305C>A (p.Gln769Lys) n.2312C>A n.2254C>A n.3255C>A n.1971C>A c.1824C>A c.2422C>A (p.Gln808Lys) c.2584C>A (p.Gln862Lys) c.2506C>A (p.Gln836Lys) c.2503C>A (p.Gln835Lys) c.2500C>A (p.Gln834Lys) c.2464C>A (p.Gln822Lys) c.2383C>A (p.Gln795Lys) c.2302C>A (p.Gln768Lys) c.2221C>A (p.Gln741Lys) c.2218C>A (p.Gln740Lys) c.2143C>A (p.Gln715Lys) c.2140C>A (p.Gln714Lys) | gnomAD v4 |
17 | g.12992875A>C | CA498009584 | ELAC2 | c.2424T>G (p.Pro808=) c.2367T>G (p.Pro789=) c.2304T>G (p.Pro768=) n.2311T>G n.2253T>G n.3254T>G n.1970T>G c.1823T>G c.2421T>G (p.Pro807=) c.2583T>G (p.Pro861=) c.2505T>G (p.Pro835=) c.2502T>G (p.Pro834=) c.2499T>G (p.Pro833=) c.2463T>G (p.Pro821=) c.2382T>G (p.Pro794=) c.2301T>G (p.Pro767=) c.2220T>G (p.Pro740=) c.2217T>G (p.Pro739=) c.2142T>G (p.Pro714=) c.2139T>G (p.Pro713=) | dbSNP |
17 | g.12992875A>G | CA498009582 | ELAC2 | c.2424T>C (p.Pro808=) c.2367T>C (p.Pro789=) c.2304T>C (p.Pro768=) n.2311T>C n.2253T>C n.3254T>C n.1970T>C c.1823T>C c.2421T>C (p.Pro807=) c.2583T>C (p.Pro861=) c.2505T>C (p.Pro835=) c.2502T>C (p.Pro834=) c.2499T>C (p.Pro833=) c.2463T>C (p.Pro821=) c.2382T>C (p.Pro794=) c.2301T>C (p.Pro767=) c.2220T>C (p.Pro740=) c.2217T>C (p.Pro739=) c.2142T>C (p.Pro714=) c.2139T>C (p.Pro713=) | dbSNP |
17 | g.12992875A>T | CA498009583 | ELAC2 | c.2424T>A (p.Pro808=) c.2367T>A (p.Pro789=) c.2304T>A (p.Pro768=) n.2311T>A n.2253T>A n.3254T>A n.1970T>A c.1823T>A c.2421T>A (p.Pro807=) c.2583T>A (p.Pro861=) c.2505T>A (p.Pro835=) c.2502T>A (p.Pro834=) c.2499T>A (p.Pro833=) c.2463T>A (p.Pro821=) c.2382T>A (p.Pro794=) c.2301T>A (p.Pro767=) c.2220T>A (p.Pro740=) c.2217T>A (p.Pro739=) c.2142T>A (p.Pro714=) c.2139T>A (p.Pro713=) | dbSNP |
17 | g.12992875_12992877delinsAGG | CA2248421405 | ELAC2 | c.2422_2424delinsCCT (p.Pro808=) c.2365_2367delinsCCT (p.Pro789=) c.2302_2304delinsCCT (p.Pro768=) n.2309_2311delinsCCT n.2251_2253delinsCCT n.3252_3254delinsCCT n.1968_1970delinsCCT c.1821_1823delinsCCT c.2419_2421delinsCCT (p.Pro807=) c.2581_2583delinsCCT (p.Pro861=) c.2503_2505delinsCCT (p.Pro835=) c.2500_2502delinsCCT (p.Pro834=) c.2497_2499delinsCCT (p.Pro833=) c.2461_2463delinsCCT (p.Pro821=) c.2380_2382delinsCCT (p.Pro794=) c.2299_2301delinsCCT (p.Pro767=) c.2218_2220delinsCCT (p.Pro740=) c.2215_2217delinsCCT (p.Pro739=) c.2140_2142delinsCCT (p.Pro714=) c.2137_2139delinsCCT (p.Pro713=) | |
17 | g.12992875_12992877delinsGGC | CA288074943 | ELAC2 | c.2422_2424delinsGCC (p.Pro808Ala) c.2365_2367delinsGCC (p.Pro789Ala) c.2302_2304delinsGCC (p.Pro768Ala) n.2309_2311delinsGCC n.2251_2253delinsGCC n.3252_3254delinsGCC n.1968_1970delinsGCC c.1821_1823delinsGCC c.2419_2421delinsGCC (p.Pro807Ala) c.2581_2583delinsGCC (p.Pro861Ala) c.2503_2505delinsGCC (p.Pro835Ala) c.2500_2502delinsGCC (p.Pro834Ala) c.2497_2499delinsGCC (p.Pro833Ala) c.2461_2463delinsGCC (p.Pro821Ala) c.2380_2382delinsGCC (p.Pro794Ala) c.2299_2301delinsGCC (p.Pro767Ala) c.2218_2220delinsGCC (p.Pro740Ala) c.2215_2217delinsGCC (p.Pro739Ala) c.2140_2142delinsGCC (p.Pro714Ala) c.2137_2139delinsGCC (p.Pro713Ala) | dbSNP |
17 | g.12992876G>A | CA398222114 | ELAC2 | c.2423C>T (p.Pro808Leu) c.2366C>T (p.Pro789Leu) c.2303C>T (p.Pro768Leu) n.2310C>T n.2252C>T n.3253C>T n.1969C>T c.1822C>T c.2420C>T (p.Pro807Leu) c.2582C>T (p.Pro861Leu) c.2504C>T (p.Pro835Leu) c.2501C>T (p.Pro834Leu) c.2498C>T (p.Pro833Leu) c.2462C>T (p.Pro821Leu) c.2381C>T (p.Pro794Leu) c.2300C>T (p.Pro767Leu) c.2219C>T (p.Pro740Leu) c.2216C>T (p.Pro739Leu) c.2141C>T (p.Pro714Leu) c.2138C>T (p.Pro713Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992876G>C | CA398222116 | ELAC2 | c.2423C>G (p.Pro808Arg) c.2366C>G (p.Pro789Arg) c.2303C>G (p.Pro768Arg) n.2310C>G n.2252C>G n.3253C>G n.1969C>G c.1822C>G c.2420C>G (p.Pro807Arg) c.2582C>G (p.Pro861Arg) c.2504C>G (p.Pro835Arg) c.2501C>G (p.Pro834Arg) c.2498C>G (p.Pro833Arg) c.2462C>G (p.Pro821Arg) c.2381C>G (p.Pro794Arg) c.2300C>G (p.Pro767Arg) c.2219C>G (p.Pro740Arg) c.2216C>G (p.Pro739Arg) c.2141C>G (p.Pro714Arg) c.2138C>G (p.Pro713Arg) | |
17 | g.12992876G= | CA2248421408 | ELAC2 | c.2423C= (p.Pro808=) c.2366C= (p.Pro789=) c.2303C= (p.Pro768=) n.2310C= n.2252C= n.3253C= n.1969C= c.1822C= c.2420C= (p.Pro807=) c.2582C= (p.Pro861=) c.2504C= (p.Pro835=) c.2501C= (p.Pro834=) c.2498C= (p.Pro833=) c.2462C= (p.Pro821=) c.2381C= (p.Pro794=) c.2300C= (p.Pro767=) c.2219C= (p.Pro740=) c.2216C= (p.Pro739=) c.2141C= (p.Pro714=) c.2138C= (p.Pro713=) | |
17 | g.12992876G>T | CA398222115 | ELAC2 | c.2423C>A (p.Pro808His) c.2366C>A (p.Pro789His) c.2303C>A (p.Pro768His) n.2310C>A n.2252C>A n.3253C>A n.1969C>A c.1822C>A c.2420C>A (p.Pro807His) c.2582C>A (p.Pro861His) c.2504C>A (p.Pro835His) c.2501C>A (p.Pro834His) c.2498C>A (p.Pro833His) c.2462C>A (p.Pro821His) c.2381C>A (p.Pro794His) c.2300C>A (p.Pro767His) c.2219C>A (p.Pro740His) c.2216C>A (p.Pro739His) c.2141C>A (p.Pro714His) c.2138C>A (p.Pro713His) | |
17 | g.12992877G>A | CA398222117 | ELAC2 | c.2422C>T (p.Pro808Ser) c.2365C>T (p.Pro789Ser) c.2302C>T (p.Pro768Ser) n.2309C>T n.2251C>T n.3252C>T n.1968C>T c.1821C>T c.2419C>T (p.Pro807Ser) c.2581C>T (p.Pro861Ser) c.2503C>T (p.Pro835Ser) c.2500C>T (p.Pro834Ser) c.2497C>T (p.Pro833Ser) c.2461C>T (p.Pro821Ser) c.2380C>T (p.Pro794Ser) c.2299C>T (p.Pro767Ser) c.2218C>T (p.Pro740Ser) c.2215C>T (p.Pro739Ser) c.2140C>T (p.Pro714Ser) c.2137C>T (p.Pro713Ser) | ClinVar dbSNP |
17 | g.12992877G>C | CA398222118 | ELAC2 | c.2422C>G (p.Pro808Ala) c.2365C>G (p.Pro789Ala) c.2302C>G (p.Pro768Ala) n.2309C>G n.2251C>G n.3252C>G n.1968C>G c.1821C>G c.2419C>G (p.Pro807Ala) c.2581C>G (p.Pro861Ala) c.2503C>G (p.Pro835Ala) c.2500C>G (p.Pro834Ala) c.2497C>G (p.Pro833Ala) c.2461C>G (p.Pro821Ala) c.2380C>G (p.Pro794Ala) c.2299C>G (p.Pro767Ala) c.2218C>G (p.Pro740Ala) c.2215C>G (p.Pro739Ala) c.2140C>G (p.Pro714Ala) c.2137C>G (p.Pro713Ala) | |
17 | g.12992877G= | CA2248421411 | ELAC2 | c.2422C= (p.Pro808=) c.2365C= (p.Pro789=) c.2302C= (p.Pro768=) n.2309C= n.2251C= n.3252C= n.1968C= c.1821C= c.2419C= (p.Pro807=) c.2581C= (p.Pro861=) c.2503C= (p.Pro835=) c.2500C= (p.Pro834=) c.2497C= (p.Pro833=) c.2461C= (p.Pro821=) c.2380C= (p.Pro794=) c.2299C= (p.Pro767=) c.2218C= (p.Pro740=) c.2215C= (p.Pro739=) c.2140C= (p.Pro714=) c.2137C= (p.Pro713=) | |
17 | g.12992877G>T | CA398222119 | ELAC2 | c.2422C>A (p.Pro808Thr) c.2365C>A (p.Pro789Thr) c.2302C>A (p.Pro768Thr) n.2309C>A n.2251C>A n.3252C>A n.1968C>A c.1821C>A c.2419C>A (p.Pro807Thr) c.2581C>A (p.Pro861Thr) c.2503C>A (p.Pro835Thr) c.2500C>A (p.Pro834Thr) c.2497C>A (p.Pro833Thr) c.2461C>A (p.Pro821Thr) c.2380C>A (p.Pro794Thr) c.2299C>A (p.Pro767Thr) c.2218C>A (p.Pro740Thr) c.2215C>A (p.Pro739Thr) c.2140C>A (p.Pro714Thr) c.2137C>A (p.Pro713Thr) | |
17 | g.12992878C>A | CA398222120 | ELAC2 | c.2421G>T (p.Glu807Asp) c.2364G>T (p.Glu788Asp) c.2301G>T (p.Glu767Asp) n.2308G>T n.2250G>T n.3251G>T n.1967G>T c.1820G>T c.2418G>T (p.Glu806Asp) c.2580G>T (p.Glu860Asp) c.2502G>T (p.Glu834Asp) c.2499G>T (p.Glu833Asp) c.2496G>T (p.Glu832Asp) c.2460G>T (p.Glu820Asp) c.2379G>T (p.Glu793Asp) c.2298G>T (p.Glu766Asp) c.2217G>T (p.Glu739Asp) c.2214G>T (p.Glu738Asp) c.2139G>T (p.Glu713Asp) c.2136G>T (p.Glu712Asp) | |
17 | g.12992878C>G | CA398222121 | ELAC2 | c.2421G>C (p.Glu807Asp) c.2364G>C (p.Glu788Asp) c.2301G>C (p.Glu767Asp) n.2308G>C n.2250G>C n.3251G>C n.1967G>C c.1820G>C c.2418G>C (p.Glu806Asp) c.2580G>C (p.Glu860Asp) c.2502G>C (p.Glu834Asp) c.2499G>C (p.Glu833Asp) c.2496G>C (p.Glu832Asp) c.2460G>C (p.Glu820Asp) c.2379G>C (p.Glu793Asp) c.2298G>C (p.Glu766Asp) c.2217G>C (p.Glu739Asp) c.2214G>C (p.Glu738Asp) c.2139G>C (p.Glu713Asp) c.2136G>C (p.Glu712Asp) | |
17 | g.12992878C>T | CA498009585 | ELAC2 | c.2421G>A (p.Glu807=) c.2364G>A (p.Glu788=) c.2301G>A (p.Glu767=) n.2308G>A n.2250G>A n.3251G>A n.1967G>A c.1820G>A c.2418G>A (p.Glu806=) c.2580G>A (p.Glu860=) c.2502G>A (p.Glu834=) c.2499G>A (p.Glu833=) c.2496G>A (p.Glu832=) c.2460G>A (p.Glu820=) c.2379G>A (p.Glu793=) c.2298G>A (p.Glu766=) c.2217G>A (p.Glu739=) c.2214G>A (p.Glu738=) c.2139G>A (p.Glu713=) c.2136G>A (p.Glu712=) | ClinVar dbSNP |
17 | g.12992879T>A | CA398222122 | ELAC2 | c.2420A>T (p.Glu807Val) c.2363A>T (p.Glu788Val) c.2300A>T (p.Glu767Val) n.2307A>T n.2249A>T n.3250A>T n.1966A>T c.1819A>T c.2417A>T (p.Glu806Val) c.2579A>T (p.Glu860Val) c.2501A>T (p.Glu834Val) c.2498A>T (p.Glu833Val) c.2495A>T (p.Glu832Val) c.2459A>T (p.Glu820Val) c.2378A>T (p.Glu793Val) c.2297A>T (p.Glu766Val) c.2216A>T (p.Glu739Val) c.2213A>T (p.Glu738Val) c.2138A>T (p.Glu713Val) c.2135A>T (p.Glu712Val) | |
17 | g.12992879T>C | CA398222123 | ELAC2 | c.2420A>G (p.Glu807Gly) c.2363A>G (p.Glu788Gly) c.2300A>G (p.Glu767Gly) n.2307A>G n.2249A>G n.3250A>G n.1966A>G c.1819A>G c.2417A>G (p.Glu806Gly) c.2579A>G (p.Glu860Gly) c.2501A>G (p.Glu834Gly) c.2498A>G (p.Glu833Gly) c.2495A>G (p.Glu832Gly) c.2459A>G (p.Glu820Gly) c.2378A>G (p.Glu793Gly) c.2297A>G (p.Glu766Gly) c.2216A>G (p.Glu739Gly) c.2213A>G (p.Glu738Gly) c.2138A>G (p.Glu713Gly) c.2135A>G (p.Glu712Gly) | dbSNP |
17 | g.12992879T>G | CA398222124 | ELAC2 | c.2420A>C (p.Glu807Ala) c.2363A>C (p.Glu788Ala) c.2300A>C (p.Glu767Ala) n.2307A>C n.2249A>C n.3250A>C n.1966A>C c.1819A>C c.2417A>C (p.Glu806Ala) c.2579A>C (p.Glu860Ala) c.2501A>C (p.Glu834Ala) c.2498A>C (p.Glu833Ala) c.2495A>C (p.Glu832Ala) c.2459A>C (p.Glu820Ala) c.2378A>C (p.Glu793Ala) c.2297A>C (p.Glu766Ala) c.2216A>C (p.Glu739Ala) c.2213A>C (p.Glu738Ala) c.2138A>C (p.Glu713Ala) c.2135A>C (p.Glu712Ala) | |
17 | g.12992880C>A | CA398222125 | ELAC2 | c.2419G>T (p.Glu807Ter) c.2362G>T (p.Glu788Ter) c.2299G>T (p.Glu767Ter) n.2306G>T n.2248G>T n.3249G>T n.1965G>T c.1818G>T c.2416G>T (p.Glu806Ter) c.2578G>T (p.Glu860Ter) c.2500G>T (p.Glu834Ter) c.2497G>T (p.Glu833Ter) c.2494G>T (p.Glu832Ter) c.2458G>T (p.Glu820Ter) c.2377G>T (p.Glu793Ter) c.2296G>T (p.Glu766Ter) c.2215G>T (p.Glu739Ter) c.2212G>T (p.Glu738Ter) c.2137G>T (p.Glu713Ter) c.2134G>T (p.Glu712Ter) | |
17 | g.12992880C= | CA2248421413 | ELAC2 | c.2419G= (p.Glu807=) c.2362G= (p.Glu788=) c.2299G= (p.Glu767=) n.2306G= n.2248G= n.3249G= n.1965G= c.1818G= c.2416G= (p.Glu806=) c.2578G= (p.Glu860=) c.2500G= (p.Glu834=) c.2497G= (p.Glu833=) c.2494G= (p.Glu832=) c.2458G= (p.Glu820=) c.2377G= (p.Glu793=) c.2296G= (p.Glu766=) c.2215G= (p.Glu739=) c.2212G= (p.Glu738=) c.2137G= (p.Glu713=) c.2134G= (p.Glu712=) | |
17 | g.12992880C>G | CA398222126 | ELAC2 | c.2419G>C (p.Glu807Gln) c.2362G>C (p.Glu788Gln) c.2299G>C (p.Glu767Gln) n.2306G>C n.2248G>C n.3249G>C n.1965G>C c.1818G>C c.2416G>C (p.Glu806Gln) c.2578G>C (p.Glu860Gln) c.2500G>C (p.Glu834Gln) c.2497G>C (p.Glu833Gln) c.2494G>C (p.Glu832Gln) c.2458G>C (p.Glu820Gln) c.2377G>C (p.Glu793Gln) c.2296G>C (p.Glu766Gln) c.2215G>C (p.Glu739Gln) c.2212G>C (p.Glu738Gln) c.2137G>C (p.Glu713Gln) c.2134G>C (p.Glu712Gln) | |
17 | g.12992880C>T | CA398222127 | ELAC2 | c.2419G>A (p.Glu807Lys) c.2362G>A (p.Glu788Lys) c.2299G>A (p.Glu767Lys) n.2306G>A n.2248G>A n.3249G>A n.1965G>A c.1818G>A c.2416G>A (p.Glu806Lys) c.2578G>A (p.Glu860Lys) c.2500G>A (p.Glu834Lys) c.2497G>A (p.Glu833Lys) c.2494G>A (p.Glu832Lys) c.2458G>A (p.Glu820Lys) c.2377G>A (p.Glu793Lys) c.2296G>A (p.Glu766Lys) c.2215G>A (p.Glu739Lys) c.2212G>A (p.Glu738Lys) c.2137G>A (p.Glu713Lys) c.2134G>A (p.Glu712Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.12992883del | CA2838206458 | ELAC2 | c.2419del (p.Glu807SerfsTer?) c.2362del (p.Glu788SerfsTer?) c.2299del (p.Glu767SerfsTer?) n.2306del n.2248del n.3249del n.1965del c.1818del c.2416del (p.Glu806SerfsTer?) c.2578del (p.Glu860SerfsTer?) c.2500del (p.Glu834SerfsTer?) c.2497del (p.Glu833SerfsTer?) c.2494del (p.Glu832SerfsTer?) c.2458del (p.Glu820SerfsTer?) c.2377del (p.Glu793SerfsTer?) c.2296del (p.Glu766SerfsTer?) c.2215del (p.Glu739SerfsTer?) c.2212del (p.Glu738SerfsTer?) c.2137del (p.Glu713SerfsTer?) c.2134del (p.Glu712SerfsTer?) | |
17 | g.12992881C>A | CA498009586 | ELAC2 | c.2418G>T (p.Gly806=) c.2361G>T (p.Gly787=) c.2298G>T (p.Gly766=) n.2305G>T n.2247G>T n.3248G>T n.1964G>T c.1817G>T c.2415G>T (p.Gly805=) c.2577G>T (p.Gly859=) c.2499G>T (p.Gly833=) c.2496G>T (p.Gly832=) c.2493G>T (p.Gly831=) c.2457G>T (p.Gly819=) c.2376G>T (p.Gly792=) c.2295G>T (p.Gly765=) c.2214G>T (p.Gly738=) c.2211G>T (p.Gly737=) c.2136G>T (p.Gly712=) c.2133G>T (p.Gly711=) | |
17 | g.12992881C= | CA2248421416 | ELAC2 | c.2418G= (p.Gly806=) c.2361G= (p.Gly787=) c.2298G= (p.Gly766=) n.2305G= n.2247G= n.3248G= n.1964G= c.1817G= c.2415G= (p.Gly805=) c.2577G= (p.Gly859=) c.2499G= (p.Gly833=) c.2496G= (p.Gly832=) c.2493G= (p.Gly831=) c.2457G= (p.Gly819=) c.2376G= (p.Gly792=) c.2295G= (p.Gly765=) c.2214G= (p.Gly738=) c.2211G= (p.Gly737=) c.2136G= (p.Gly712=) c.2133G= (p.Gly711=) | |
17 | g.12992881C>G | CA8400798 | ELAC2 | c.2418G>C (p.Gly806=) c.2361G>C (p.Gly787=) c.2298G>C (p.Gly766=) n.2305G>C n.2247G>C n.3248G>C n.1964G>C c.1817G>C c.2415G>C (p.Gly805=) c.2577G>C (p.Gly859=) c.2499G>C (p.Gly833=) c.2496G>C (p.Gly832=) c.2493G>C (p.Gly831=) c.2457G>C (p.Gly819=) c.2376G>C (p.Gly792=) c.2295G>C (p.Gly765=) c.2214G>C (p.Gly738=) c.2211G>C (p.Gly737=) c.2136G>C (p.Gly712=) c.2133G>C (p.Gly711=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992881C>T | CA498009587 | ELAC2 | c.2418G>A (p.Gly806=) c.2361G>A (p.Gly787=) c.2298G>A (p.Gly766=) n.2305G>A n.2247G>A n.3248G>A n.1964G>A c.1817G>A c.2415G>A (p.Gly805=) c.2577G>A (p.Gly859=) c.2499G>A (p.Gly833=) c.2496G>A (p.Gly832=) c.2493G>A (p.Gly831=) c.2457G>A (p.Gly819=) c.2376G>A (p.Gly792=) c.2295G>A (p.Gly765=) c.2214G>A (p.Gly738=) c.2211G>A (p.Gly737=) c.2136G>A (p.Gly712=) c.2133G>A (p.Gly711=) | |
17 | g.12992882C>A | CA398222129 | ELAC2 | c.2417G>T (p.Gly806Val) c.2360G>T (p.Gly787Val) c.2297G>T (p.Gly766Val) n.2304G>T n.2246G>T n.3247G>T n.1963G>T c.1816G>T c.2414G>T (p.Gly805Val) c.2576G>T (p.Gly859Val) c.2498G>T (p.Gly833Val) c.2495G>T (p.Gly832Val) c.2492G>T (p.Gly831Val) c.2456G>T (p.Gly819Val) c.2375G>T (p.Gly792Val) c.2294G>T (p.Gly765Val) c.2213G>T (p.Gly738Val) c.2210G>T (p.Gly737Val) c.2135G>T (p.Gly712Val) c.2132G>T (p.Gly711Val) | dbSNP |
17 | g.12992882C= | CA2248421419 | ELAC2 | c.2417G= (p.Gly806=) c.2360G= (p.Gly787=) c.2297G= (p.Gly766=) n.2304G= n.2246G= n.3247G= n.1963G= c.1816G= c.2414G= (p.Gly805=) c.2576G= (p.Gly859=) c.2498G= (p.Gly833=) c.2495G= (p.Gly832=) c.2492G= (p.Gly831=) c.2456G= (p.Gly819=) c.2375G= (p.Gly792=) c.2294G= (p.Gly765=) c.2213G= (p.Gly738=) c.2210G= (p.Gly737=) c.2135G= (p.Gly712=) c.2132G= (p.Gly711=) | |
17 | g.12992882C>G | CA398222128 | ELAC2 | c.2417G>C (p.Gly806Ala) c.2360G>C (p.Gly787Ala) c.2297G>C (p.Gly766Ala) n.2304G>C n.2246G>C n.3247G>C n.1963G>C c.1816G>C c.2414G>C (p.Gly805Ala) c.2576G>C (p.Gly859Ala) c.2498G>C (p.Gly833Ala) c.2495G>C (p.Gly832Ala) c.2492G>C (p.Gly831Ala) c.2456G>C (p.Gly819Ala) c.2375G>C (p.Gly792Ala) c.2294G>C (p.Gly765Ala) c.2213G>C (p.Gly738Ala) c.2210G>C (p.Gly737Ala) c.2135G>C (p.Gly712Ala) c.2132G>C (p.Gly711Ala) | dbSNP |
17 | g.12992882C>T | CA8400799 | ELAC2 | c.2417G>A (p.Gly806Glu) c.2360G>A (p.Gly787Glu) c.2297G>A (p.Gly766Glu) n.2304G>A n.2246G>A n.3247G>A n.1963G>A c.1816G>A c.2414G>A (p.Gly805Glu) c.2576G>A (p.Gly859Glu) c.2498G>A (p.Gly833Glu) c.2495G>A (p.Gly832Glu) c.2492G>A (p.Gly831Glu) c.2456G>A (p.Gly819Glu) c.2375G>A (p.Gly792Glu) c.2294G>A (p.Gly765Glu) c.2213G>A (p.Gly738Glu) c.2210G>A (p.Gly737Glu) c.2135G>A (p.Gly712Glu) c.2132G>A (p.Gly711Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.12992883C>A | CA398222130 | ELAC2 | c.2416G>T (p.Gly806Trp) c.2359G>T (p.Gly787Trp) c.2296G>T (p.Gly766Trp) n.2303G>T n.2245G>T n.3246G>T n.1962G>T c.1815G>T c.2413G>T (p.Gly805Trp) c.2575G>T (p.Gly859Trp) c.2497G>T (p.Gly833Trp) c.2494G>T (p.Gly832Trp) c.2491G>T (p.Gly831Trp) c.2455G>T (p.Gly819Trp) c.2374G>T (p.Gly792Trp) c.2293G>T (p.Gly765Trp) c.2212G>T (p.Gly738Trp) c.2209G>T (p.Gly737Trp) c.2134G>T (p.Gly712Trp) c.2131G>T (p.Gly711Trp) | |
17 | g.12992883C= | CA2248421424 | ELAC2 | c.2416G= (p.Gly806=) c.2359G= (p.Gly787=) c.2296G= (p.Gly766=) n.2303G= n.2245G= n.3246G= n.1962G= c.1815G= c.2413G= (p.Gly805=) c.2575G= (p.Gly859=) c.2497G= (p.Gly833=) c.2494G= (p.Gly832=) c.2491G= (p.Gly831=) c.2455G= (p.Gly819=) c.2374G= (p.Gly792=) c.2293G= (p.Gly765=) c.2212G= (p.Gly738=) c.2209G= (p.Gly737=) c.2134G= (p.Gly712=) c.2131G= (p.Gly711=) | |
17 | g.12992883C>G | CA288074947 | ELAC2 | c.2416G>C (p.Gly806Arg) c.2359G>C (p.Gly787Arg) c.2296G>C (p.Gly766Arg) n.2303G>C n.2245G>C n.3246G>C n.1962G>C c.1815G>C c.2413G>C (p.Gly805Arg) c.2575G>C (p.Gly859Arg) c.2497G>C (p.Gly833Arg) c.2494G>C (p.Gly832Arg) c.2491G>C (p.Gly831Arg) c.2455G>C (p.Gly819Arg) c.2374G>C (p.Gly792Arg) c.2293G>C (p.Gly765Arg) c.2212G>C (p.Gly738Arg) c.2209G>C (p.Gly737Arg) c.2134G>C (p.Gly712Arg) c.2131G>C (p.Gly711Arg) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.12992883C>T | CA398222131 | ELAC2 | c.2416G>A (p.Gly806Arg) c.2359G>A (p.Gly787Arg) c.2296G>A (p.Gly766Arg) n.2303G>A n.2245G>A n.3246G>A n.1962G>A c.1815G>A c.2413G>A (p.Gly805Arg) c.2575G>A (p.Gly859Arg) c.2497G>A (p.Gly833Arg) c.2494G>A (p.Gly832Arg) c.2491G>A (p.Gly831Arg) c.2455G>A (p.Gly819Arg) c.2374G>A (p.Gly792Arg) c.2293G>A (p.Gly765Arg) c.2212G>A (p.Gly738Arg) c.2209G>A (p.Gly737Arg) c.2134G>A (p.Gly712Arg) c.2131G>A (p.Gly711Arg) | COSMIC |
17 | g.12992884A>C | CA398222132 | ELAC2 | c.2415T>G (p.Asp805Glu) c.2358T>G (p.Asp786Glu) c.2295T>G (p.Asp765Glu) n.2302T>G n.2244T>G n.3245T>G n.1961T>G c.1814T>G c.2412T>G (p.Asp804Glu) c.2574T>G (p.Asp858Glu) c.2496T>G (p.Asp832Glu) c.2493T>G (p.Asp831Glu) c.2490T>G (p.Asp830Glu) c.2454T>G (p.Asp818Glu) c.2373T>G (p.Asp791Glu) c.2292T>G (p.Asp764Glu) c.2211T>G (p.Asp737Glu) c.2208T>G (p.Asp736Glu) c.2133T>G (p.Asp711Glu) c.2130T>G (p.Asp710Glu) | |
17 | g.12992884A>G | CA498009588 | ELAC2 | c.2415T>C (p.Asp805=) c.2358T>C (p.Asp786=) c.2295T>C (p.Asp765=) n.2302T>C n.2244T>C n.3245T>C n.1961T>C c.1814T>C c.2412T>C (p.Asp804=) c.2574T>C (p.Asp858=) c.2496T>C (p.Asp832=) c.2493T>C (p.Asp831=) c.2490T>C (p.Asp830=) c.2454T>C (p.Asp818=) c.2373T>C (p.Asp791=) c.2292T>C (p.Asp764=) c.2211T>C (p.Asp737=) c.2208T>C (p.Asp736=) c.2133T>C (p.Asp711=) c.2130T>C (p.Asp710=) | gnomAD v4 |
17 | g.12992884A>T | CA398222133 | ELAC2 | c.2415T>A (p.Asp805Glu) c.2358T>A (p.Asp786Glu) c.2295T>A (p.Asp765Glu) n.2302T>A n.2244T>A n.3245T>A n.1961T>A c.1814T>A c.2412T>A (p.Asp804Glu) c.2574T>A (p.Asp858Glu) c.2496T>A (p.Asp832Glu) c.2493T>A (p.Asp831Glu) c.2490T>A (p.Asp830Glu) c.2454T>A (p.Asp818Glu) c.2373T>A (p.Asp791Glu) c.2292T>A (p.Asp764Glu) c.2211T>A (p.Asp737Glu) c.2208T>A (p.Asp736Glu) c.2133T>A (p.Asp711Glu) c.2130T>A (p.Asp710Glu) | |
17 | g.12992902_12992903insCGCTCCCTGGACAGGAGGGCCGCCCGCACCCGCCGCAGCTCCCGATCCTCCAGGCCGCCTGCC | CA981620051 | ELAC2 | c.2415_2416insCGGGAGCTGCGGCGGGTGCGGGCGGCCCTCCTGTCCAGGGAGCGGGCAGGCGGCCTGGAGGAT (p.Asp805_Gly806insArgGluLeuArgArgValArgAlaAlaLeuLeuSerArgGluArgAlaGlyGlyLeuGluAsp) c.2358_2359insCGGGAGCTGCGGCGGGTGCGGGCGGCCCTCCTGTCCAGGGAGCGGGCAGGCGGCCTGGAGGAT (p.Asp786_Gly787insArgGluLeuArgArgValArgAlaAlaLeuLeuSerArgGluArgAlaGlyGlyLeuGluAsp) c.2295_2296insCGGGAGCTGCGGCGGGTGCGGGCGGCCCTCCTGTCCAGGGAGCGGGCAGGCGGCCTGGAGGAT (p.Asp765_Gly766insArgGluLeuArgArgValArgAlaAlaLeuLeuSerArgGluArgAlaGlyGlyLeuGluAsp) n.2302_2303insCGGGAGCTGCGGCGGGTGCGGGCGGCCCTCCTGTCCAGGGAGCGGGCAGGCGGCCTGGAGGAT n.2244_2245insCGGGAGCTGCGGCGGGTGCGGGCGGCCCTCCTGTCCAGGGAGCGGGCAGGCGGCCTGGAGGAT n.3245_3246insCGGGAGCTGCGGCGGGTGCGGGCGGCCCTCCTGTCCAGGGAGCGGGCAGGCGGCCTGGAGGAT n.1961_1962insCGGGAGCTGCGGCGGGTGCGGGCGGCCCTCCTGTCCAGGGAGCGGGCAGGCGGCCTGGAGGAT c.1814_1815insCGGGAGCTGCGGCGGGTGCGGGCGGCCCTCCTGTCCAGGGAGCGGGCAGGCGGCCTGGAGGAT c.2412_2413insCGGGAGCTGCGGCGGGTGCGGGCGGCCCTCCTGTCCAGGGAGCGGGCAGGCGGCCTGGAGGAT (p.Asp804_Gly805insArgGluLeuArgArgValArgAlaAlaLeuLeuSerArgGluArgAlaGlyGlyLeuGluAsp) c.2574_2575insCGGGAGCTGCGGCGGGTGCGGGCGGCCCTCCTGTCCAGGGAGCGGGCAGGCGGCCTGGAGGAT (p.Asp858_Gly859insArgGluLeuArgArgValArgAlaAlaLeuLeuSerArgGluArgAlaGlyGlyLeuGluAsp) c.2496_2497insCGGGAGCTGCGGCGGGTGCGGGCGGCCCTCCTGTCCAGGGAGCGGGCAGGCGGCCTGGAGGAT (p.Asp832_Gly833insArgGluLeuArgArgValArgAlaAlaLeuLeuSerArgGluArgAlaGlyGlyLeuGluAsp) c.2493_2494insCGGGAGCTGCGGCGGGTGCGGGCGGCCCTCCTGTCCAGGGAGCGGGCAGGCGGCCTGGAGGAT (p.Asp831_Gly832insArgGluLeuArgArgValArgAlaAlaLeuLeuSerArgGluArgAlaGlyGlyLeuGluAsp) c.2490_2491insCGGGAGCTGCGGCGGGTGCGGGCGGCCCTCCTGTCCAGGGAGCGGGCAGGCGGCCTGGAGGAT (p.Asp830_Gly831insArgGluLeuArgArgValArgAlaAlaLeuLeuSerArgGluArgAlaGlyGlyLeuGluAsp) c.2454_2455insCGGGAGCTGCGGCGGGTGCGGGCGGCCCTCCTGTCCAGGGAGCGGGCAGGCGGCCTGGAGGAT (p.Asp818_Gly819insArgGluLeuArgArgValArgAlaAlaLeuLeuSerArgGluArgAlaGlyGlyLeuGluAsp) c.2373_2374insCGGGAGCTGCGGCGGGTGCGGGCGGCCCTCCTGTCCAGGGAGCGGGCAGGCGGCCTGGAGGAT (p.Asp791_Gly792insArgGluLeuArgArgValArgAlaAlaLeuLeuSerArgGluArgAlaGlyGlyLeuGluAsp) c.2292_2293insCGGGAGCTGCGGCGGGTGCGGGCGGCCCTCCTGTCCAGGGAGCGGGCAGGCGGCCTGGAGGAT (p.Asp764_Gly765insArgGluLeuArgArgValArgAlaAlaLeuLeuSerArgGluArgAlaGlyGlyLeuGluAsp) c.2211_2212insCGGGAGCTGCGGCGGGTGCGGGCGGCCCTCCTGTCCAGGGAGCGGGCAGGCGGCCTGGAGGAT (p.Asp737_Gly738insArgGluLeuArgArgValArgAlaAlaLeuLeuSerArgGluArgAlaGlyGlyLeuGluAsp) c.2208_2209insCGGGAGCTGCGGCGGGTGCGGGCGGCCCTCCTGTCCAGGGAGCGGGCAGGCGGCCTGGAGGAT (p.Asp736_Gly737insArgGluLeuArgArgValArgAlaAlaLeuLeuSerArgGluArgAlaGlyGlyLeuGluAsp) c.2133_2134insCGGGAGCTGCGGCGGGTGCGGGCGGCCCTCCTGTCCAGGGAGCGGGCAGGCGGCCTGGAGGAT (p.Asp711_Gly712insArgGluLeuArgArgValArgAlaAlaLeuLeuSerArgGluArgAlaGlyGlyLeuGluAsp) c.2130_2131insCGGGAGCTGCGGCGGGTGCGGGCGGCCCTCCTGTCCAGGGAGCGGGCAGGCGGCCTGGAGGAT (p.Asp710_Gly711insArgGluLeuArgArgValArgAlaAlaLeuLeuSerArgGluArgAlaGlyGlyLeuGluAsp) | |
17 | g.12992914_12992915insTCGAGGGCGGCCCGCACCTGCCGCAGCTCCCGATCCTCCAGGCCGCCTGCCAGCTCCCTGGAC | CA2808527062 | ELAC2 | c.2415_2416insCGGGAGCTGCGGCAGGTGCGGGCCGCCCTCGAGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp805_Gly806insArgGluLeuArgGlnValArgAlaAlaLeuGluSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2358_2359insCGGGAGCTGCGGCAGGTGCGGGCCGCCCTCGAGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp786_Gly787insArgGluLeuArgGlnValArgAlaAlaLeuGluSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2295_2296insCGGGAGCTGCGGCAGGTGCGGGCCGCCCTCGAGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp765_Gly766insArgGluLeuArgGlnValArgAlaAlaLeuGluSerArgGluLeuAlaGlyGlyLeuGluAsp) n.2302_2303insCGGGAGCTGCGGCAGGTGCGGGCCGCCCTCGAGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT n.2244_2245insCGGGAGCTGCGGCAGGTGCGGGCCGCCCTCGAGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT n.3245_3246insCGGGAGCTGCGGCAGGTGCGGGCCGCCCTCGAGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT n.1961_1962insCGGGAGCTGCGGCAGGTGCGGGCCGCCCTCGAGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT c.1814_1815insCGGGAGCTGCGGCAGGTGCGGGCCGCCCTCGAGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT c.2412_2413insCGGGAGCTGCGGCAGGTGCGGGCCGCCCTCGAGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp804_Gly805insArgGluLeuArgGlnValArgAlaAlaLeuGluSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2574_2575insCGGGAGCTGCGGCAGGTGCGGGCCGCCCTCGAGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp858_Gly859insArgGluLeuArgGlnValArgAlaAlaLeuGluSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2496_2497insCGGGAGCTGCGGCAGGTGCGGGCCGCCCTCGAGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp832_Gly833insArgGluLeuArgGlnValArgAlaAlaLeuGluSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2493_2494insCGGGAGCTGCGGCAGGTGCGGGCCGCCCTCGAGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp831_Gly832insArgGluLeuArgGlnValArgAlaAlaLeuGluSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2490_2491insCGGGAGCTGCGGCAGGTGCGGGCCGCCCTCGAGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp830_Gly831insArgGluLeuArgGlnValArgAlaAlaLeuGluSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2454_2455insCGGGAGCTGCGGCAGGTGCGGGCCGCCCTCGAGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp818_Gly819insArgGluLeuArgGlnValArgAlaAlaLeuGluSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2373_2374insCGGGAGCTGCGGCAGGTGCGGGCCGCCCTCGAGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp791_Gly792insArgGluLeuArgGlnValArgAlaAlaLeuGluSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2292_2293insCGGGAGCTGCGGCAGGTGCGGGCCGCCCTCGAGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp764_Gly765insArgGluLeuArgGlnValArgAlaAlaLeuGluSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2211_2212insCGGGAGCTGCGGCAGGTGCGGGCCGCCCTCGAGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp737_Gly738insArgGluLeuArgGlnValArgAlaAlaLeuGluSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2208_2209insCGGGAGCTGCGGCAGGTGCGGGCCGCCCTCGAGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp736_Gly737insArgGluLeuArgGlnValArgAlaAlaLeuGluSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2133_2134insCGGGAGCTGCGGCAGGTGCGGGCCGCCCTCGAGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp711_Gly712insArgGluLeuArgGlnValArgAlaAlaLeuGluSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2130_2131insCGGGAGCTGCGGCAGGTGCGGGCCGCCCTCGAGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp710_Gly711insArgGluLeuArgGlnValArgAlaAlaLeuGluSerArgGluLeuAlaGlyGlyLeuGluAsp) | |
17 | g.12992941_12992942insCCCCGATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGC | CA10583446 | ELAC2 | c.2415_2416insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp805_Gly806insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2358_2359insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp786_Gly787insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2295_2296insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp765_Gly766insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) n.2302_2303insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT n.2244_2245insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT n.3245_3246insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT n.1961_1962insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT c.1814_1815insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT c.2412_2413insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp804_Gly805insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2574_2575insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp858_Gly859insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2496_2497insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp832_Gly833insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2493_2494insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp831_Gly832insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2490_2491insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp830_Gly831insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2454_2455insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp818_Gly819insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2373_2374insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp791_Gly792insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2292_2293insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp764_Gly765insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2211_2212insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp737_Gly738insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2208_2209insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp736_Gly737insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2133_2134insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp711_Gly712insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2130_2131insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp710_Gly711insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) | ClinVar dbSNP |
17 | g.12992884_12992946dup | CA8400800 | ELAC2 | c.2353_2415dup (p.Asp805_Gly806insArgGluLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2296_2358dup (p.Asp786_Gly787insArgGluLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2233_2295dup (p.Asp765_Gly766insArgGluLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) n.2240_2302dup n.2182_2244dup n.3183_3245dup n.1899_1961dup c.1752_1814dup c.2350_2412dup (p.Asp804_Gly805insArgGluLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2512_2574dup (p.Asp858_Gly859insArgGluLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2434_2496dup (p.Asp832_Gly833insArgGluLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2431_2493dup (p.Asp831_Gly832insArgGluLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2428_2490dup (p.Asp830_Gly831insArgGluLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2392_2454dup (p.Asp818_Gly819insArgGluLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2311_2373dup (p.Asp791_Gly792insArgGluLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2230_2292dup (p.Asp764_Gly765insArgGluLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2149_2211dup (p.Asp737_Gly738insArgGluLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2146_2208dup (p.Asp736_Gly737insArgGluLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2071_2133dup (p.Asp711_Gly712insArgGluLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) c.2068_2130dup (p.Asp710_Gly711insArgGluLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992885T>A | CA398222134 | ELAC2 | c.2414A>T (p.Asp805Val) c.2357A>T (p.Asp786Val) c.2294A>T (p.Asp765Val) n.2301A>T n.2243A>T n.3244A>T n.1960A>T c.1813A>T c.2411A>T (p.Asp804Val) c.2573A>T (p.Asp858Val) c.2495A>T (p.Asp832Val) c.2492A>T (p.Asp831Val) c.2489A>T (p.Asp830Val) c.2453A>T (p.Asp818Val) c.2372A>T (p.Asp791Val) c.2291A>T (p.Asp764Val) c.2210A>T (p.Asp737Val) c.2207A>T (p.Asp736Val) c.2132A>T (p.Asp711Val) c.2129A>T (p.Asp710Val) | |
17 | g.12992885T>C | CA8400801 | ELAC2 | c.2414A>G (p.Asp805Gly) c.2357A>G (p.Asp786Gly) c.2294A>G (p.Asp765Gly) n.2301A>G n.2243A>G n.3244A>G n.1960A>G c.1813A>G c.2411A>G (p.Asp804Gly) c.2573A>G (p.Asp858Gly) c.2495A>G (p.Asp832Gly) c.2492A>G (p.Asp831Gly) c.2489A>G (p.Asp830Gly) c.2453A>G (p.Asp818Gly) c.2372A>G (p.Asp791Gly) c.2291A>G (p.Asp764Gly) c.2210A>G (p.Asp737Gly) c.2207A>G (p.Asp736Gly) c.2132A>G (p.Asp711Gly) c.2129A>G (p.Asp710Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.12992885T>G | CA398222135 | ELAC2 | c.2414A>C (p.Asp805Ala) c.2357A>C (p.Asp786Ala) c.2294A>C (p.Asp765Ala) n.2301A>C n.2243A>C n.3244A>C n.1960A>C c.1813A>C c.2411A>C (p.Asp804Ala) c.2573A>C (p.Asp858Ala) c.2495A>C (p.Asp832Ala) c.2492A>C (p.Asp831Ala) c.2489A>C (p.Asp830Ala) c.2453A>C (p.Asp818Ala) c.2372A>C (p.Asp791Ala) c.2291A>C (p.Asp764Ala) c.2210A>C (p.Asp737Ala) c.2207A>C (p.Asp736Ala) c.2132A>C (p.Asp711Ala) c.2129A>C (p.Asp710Ala) | |
17 | g.12992885T= | CA2248421435 | ELAC2 | c.2414A= (p.Asp805=) c.2357A= (p.Asp786=) c.2294A= (p.Asp765=) n.2301A= n.2243A= n.3244A= n.1960A= c.1813A= c.2411A= (p.Asp804=) c.2573A= (p.Asp858=) c.2495A= (p.Asp832=) c.2492A= (p.Asp831=) c.2489A= (p.Asp830=) c.2453A= (p.Asp818=) c.2372A= (p.Asp791=) c.2291A= (p.Asp764=) c.2210A= (p.Asp737=) c.2207A= (p.Asp736=) c.2132A= (p.Asp711=) c.2129A= (p.Asp710=) | |
17 | g.12992886C>A | CA398222136 | ELAC2 | c.2413G>T (p.Asp805Tyr) c.2356G>T (p.Asp786Tyr) c.2293G>T (p.Asp765Tyr) n.2300G>T n.2242G>T n.3243G>T n.1959G>T c.1812G>T c.2410G>T (p.Asp804Tyr) c.2572G>T (p.Asp858Tyr) c.2494G>T (p.Asp832Tyr) c.2491G>T (p.Asp831Tyr) c.2488G>T (p.Asp830Tyr) c.2452G>T (p.Asp818Tyr) c.2371G>T (p.Asp791Tyr) c.2290G>T (p.Asp764Tyr) c.2209G>T (p.Asp737Tyr) c.2206G>T (p.Asp736Tyr) c.2131G>T (p.Asp711Tyr) c.2128G>T (p.Asp710Tyr) | |
17 | g.12992886C= | CA2248421439 | ELAC2 | c.2413G= (p.Asp805=) c.2356G= (p.Asp786=) c.2293G= (p.Asp765=) n.2300G= n.2242G= n.3243G= n.1959G= c.1812G= c.2410G= (p.Asp804=) c.2572G= (p.Asp858=) c.2494G= (p.Asp832=) c.2491G= (p.Asp831=) c.2488G= (p.Asp830=) c.2452G= (p.Asp818=) c.2371G= (p.Asp791=) c.2290G= (p.Asp764=) c.2209G= (p.Asp737=) c.2206G= (p.Asp736=) c.2131G= (p.Asp711=) c.2128G= (p.Asp710=) | |
17 | g.12992886C>G | CA398222137 | ELAC2 | c.2413G>C (p.Asp805His) c.2356G>C (p.Asp786His) c.2293G>C (p.Asp765His) n.2300G>C n.2242G>C n.3243G>C n.1959G>C c.1812G>C c.2410G>C (p.Asp804His) c.2572G>C (p.Asp858His) c.2494G>C (p.Asp832His) c.2491G>C (p.Asp831His) c.2488G>C (p.Asp830His) c.2452G>C (p.Asp818His) c.2371G>C (p.Asp791His) c.2290G>C (p.Asp764His) c.2209G>C (p.Asp737His) c.2206G>C (p.Asp736His) c.2131G>C (p.Asp711His) c.2128G>C (p.Asp710His) | |
17 | g.12992886C>T | CA398222138 | ELAC2 | c.2413G>A (p.Asp805Asn) c.2356G>A (p.Asp786Asn) c.2293G>A (p.Asp765Asn) n.2300G>A n.2242G>A n.3243G>A n.1959G>A c.1812G>A c.2410G>A (p.Asp804Asn) c.2572G>A (p.Asp858Asn) c.2494G>A (p.Asp832Asn) c.2491G>A (p.Asp831Asn) c.2488G>A (p.Asp830Asn) c.2452G>A (p.Asp818Asn) c.2371G>A (p.Asp791Asn) c.2290G>A (p.Asp764Asn) c.2209G>A (p.Asp737Asn) c.2206G>A (p.Asp736Asn) c.2131G>A (p.Asp711Asn) c.2128G>A (p.Asp710Asn) | dbSNP gnomAD v2 |
17 | g.12992887C>A | CA398222140 | ELAC2 | c.2412G>T (p.Glu804Asp) c.2355G>T (p.Glu785Asp) c.2292G>T (p.Glu764Asp) n.2299G>T n.2241G>T n.3242G>T n.1958G>T c.1811G>T c.2409G>T (p.Glu803Asp) c.2571G>T (p.Glu857Asp) c.2493G>T (p.Glu831Asp) c.2490G>T (p.Glu830Asp) c.2487G>T (p.Glu829Asp) c.2451G>T (p.Glu817Asp) c.2370G>T (p.Glu790Asp) c.2289G>T (p.Glu763Asp) c.2208G>T (p.Glu736Asp) c.2205G>T (p.Glu735Asp) c.2130G>T (p.Glu710Asp) c.2127G>T (p.Glu709Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.12992887C= | CA2248421441 | ELAC2 | c.2412G= (p.Glu804=) c.2355G= (p.Glu785=) c.2292G= (p.Glu764=) n.2299G= n.2241G= n.3242G= n.1958G= c.1811G= c.2409G= (p.Glu803=) c.2571G= (p.Glu857=) c.2493G= (p.Glu831=) c.2490G= (p.Glu830=) c.2487G= (p.Glu829=) c.2451G= (p.Glu817=) c.2370G= (p.Glu790=) c.2289G= (p.Glu763=) c.2208G= (p.Glu736=) c.2205G= (p.Glu735=) c.2130G= (p.Glu710=) c.2127G= (p.Glu709=) | |
17 | g.12992887C>G | CA398222139 | ELAC2 | c.2412G>C (p.Glu804Asp) c.2355G>C (p.Glu785Asp) c.2292G>C (p.Glu764Asp) n.2299G>C n.2241G>C n.3242G>C n.1958G>C c.1811G>C c.2409G>C (p.Glu803Asp) c.2571G>C (p.Glu857Asp) c.2493G>C (p.Glu831Asp) c.2490G>C (p.Glu830Asp) c.2487G>C (p.Glu829Asp) c.2451G>C (p.Glu817Asp) c.2370G>C (p.Glu790Asp) c.2289G>C (p.Glu763Asp) c.2208G>C (p.Glu736Asp) c.2205G>C (p.Glu735Asp) c.2130G>C (p.Glu710Asp) c.2127G>C (p.Glu709Asp) | |
17 | g.12992887C>T | CA498009589 | ELAC2 | c.2412G>A (p.Glu804=) c.2355G>A (p.Glu785=) c.2292G>A (p.Glu764=) n.2299G>A n.2241G>A n.3242G>A n.1958G>A c.1811G>A c.2409G>A (p.Glu803=) c.2571G>A (p.Glu857=) c.2493G>A (p.Glu831=) c.2490G>A (p.Glu830=) c.2487G>A (p.Glu829=) c.2451G>A (p.Glu817=) c.2370G>A (p.Glu790=) c.2289G>A (p.Glu763=) c.2208G>A (p.Glu736=) c.2205G>A (p.Glu735=) c.2130G>A (p.Glu710=) c.2127G>A (p.Glu709=) | ClinVar dbSNP gnomAD v4 |
17 | g.12992888T>A | CA398222141 | ELAC2 | c.2411A>T (p.Glu804Val) c.2354A>T (p.Glu785Val) c.2291A>T (p.Glu764Val) n.2298A>T n.2240A>T n.3241A>T n.1957A>T c.1810A>T c.2408A>T (p.Glu803Val) c.2570A>T (p.Glu857Val) c.2492A>T (p.Glu831Val) c.2489A>T (p.Glu830Val) c.2486A>T (p.Glu829Val) c.2450A>T (p.Glu817Val) c.2369A>T (p.Glu790Val) c.2288A>T (p.Glu763Val) c.2207A>T (p.Glu736Val) c.2204A>T (p.Glu735Val) c.2129A>T (p.Glu710Val) c.2126A>T (p.Glu709Val) | |
17 | g.12992888T>C | CA398222142 | ELAC2 | c.2411A>G (p.Glu804Gly) c.2354A>G (p.Glu785Gly) c.2291A>G (p.Glu764Gly) n.2298A>G n.2240A>G n.3241A>G n.1957A>G c.1810A>G c.2408A>G (p.Glu803Gly) c.2570A>G (p.Glu857Gly) c.2492A>G (p.Glu831Gly) c.2489A>G (p.Glu830Gly) c.2486A>G (p.Glu829Gly) c.2450A>G (p.Glu817Gly) c.2369A>G (p.Glu790Gly) c.2288A>G (p.Glu763Gly) c.2207A>G (p.Glu736Gly) c.2204A>G (p.Glu735Gly) c.2129A>G (p.Glu710Gly) c.2126A>G (p.Glu709Gly) | |
17 | g.12992888T>G | CA398222143 | ELAC2 | c.2411A>C (p.Glu804Ala) c.2354A>C (p.Glu785Ala) c.2291A>C (p.Glu764Ala) n.2298A>C n.2240A>C n.3241A>C n.1957A>C c.1810A>C c.2408A>C (p.Glu803Ala) c.2570A>C (p.Glu857Ala) c.2492A>C (p.Glu831Ala) c.2489A>C (p.Glu830Ala) c.2486A>C (p.Glu829Ala) c.2450A>C (p.Glu817Ala) c.2369A>C (p.Glu790Ala) c.2288A>C (p.Glu763Ala) c.2207A>C (p.Glu736Ala) c.2204A>C (p.Glu735Ala) c.2129A>C (p.Glu710Ala) c.2126A>C (p.Glu709Ala) | |
17 | g.12992889C>A | CA398222144 | ELAC2 | c.2410G>T (p.Glu804Ter) c.2353G>T (p.Glu785Ter) c.2290G>T (p.Glu764Ter) n.2297G>T n.2239G>T n.3240G>T n.1956G>T c.1809G>T c.2407G>T (p.Glu803Ter) c.2569G>T (p.Glu857Ter) c.2491G>T (p.Glu831Ter) c.2488G>T (p.Glu830Ter) c.2485G>T (p.Glu829Ter) c.2449G>T (p.Glu817Ter) c.2368G>T (p.Glu790Ter) c.2287G>T (p.Glu763Ter) c.2206G>T (p.Glu736Ter) c.2203G>T (p.Glu735Ter) c.2128G>T (p.Glu710Ter) c.2125G>T (p.Glu709Ter) | |
17 | g.12992889C>G | CA398222145 | ELAC2 | c.2410G>C (p.Glu804Gln) c.2353G>C (p.Glu785Gln) c.2290G>C (p.Glu764Gln) n.2297G>C n.2239G>C n.3240G>C n.1956G>C c.1809G>C c.2407G>C (p.Glu803Gln) c.2569G>C (p.Glu857Gln) c.2491G>C (p.Glu831Gln) c.2488G>C (p.Glu830Gln) c.2485G>C (p.Glu829Gln) c.2449G>C (p.Glu817Gln) c.2368G>C (p.Glu790Gln) c.2287G>C (p.Glu763Gln) c.2206G>C (p.Glu736Gln) c.2203G>C (p.Glu735Gln) c.2128G>C (p.Glu710Gln) c.2125G>C (p.Glu709Gln) | |
17 | g.12992889C>T | CA398222146 | ELAC2 | c.2410G>A (p.Glu804Lys) c.2353G>A (p.Glu785Lys) c.2290G>A (p.Glu764Lys) n.2297G>A n.2239G>A n.3240G>A n.1956G>A c.1809G>A c.2407G>A (p.Glu803Lys) c.2569G>A (p.Glu857Lys) c.2491G>A (p.Glu831Lys) c.2488G>A (p.Glu830Lys) c.2485G>A (p.Glu829Lys) c.2449G>A (p.Glu817Lys) c.2368G>A (p.Glu790Lys) c.2287G>A (p.Glu763Lys) c.2206G>A (p.Glu736Lys) c.2203G>A (p.Glu735Lys) c.2128G>A (p.Glu710Lys) c.2125G>A (p.Glu709Lys) | |
17 | g.12992890del | CA2573153038 | ELAC2 | c.2410del (p.Glu804ArgfsTer?) c.2353del (p.Glu785ArgfsTer?) c.2290del (p.Glu764ArgfsTer?) n.2297del n.2239del n.3240del n.1956del c.1809del c.2407del (p.Glu803ArgfsTer?) c.2569del (p.Glu857ArgfsTer?) c.2491del (p.Glu831ArgfsTer?) c.2488del (p.Glu830ArgfsTer?) c.2485del (p.Glu829ArgfsTer?) c.2449del (p.Glu817ArgfsTer?) c.2368del (p.Glu790ArgfsTer?) c.2287del (p.Glu763ArgfsTer?) c.2206del (p.Glu736ArgfsTer?) c.2203del (p.Glu735ArgfsTer?) c.2128del (p.Glu710ArgfsTer?) c.2125del (p.Glu709ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
17 | g.12992890C>A | CA498009590 | ELAC2 | c.2409G>T (p.Leu803=) c.2352G>T (p.Leu784=) c.2289G>T (p.Leu763=) n.2296G>T n.2238G>T n.3239G>T n.1955G>T c.1808G>T c.2406G>T (p.Leu802=) c.2568G>T (p.Leu856=) c.2490G>T (p.Leu830=) c.2487G>T (p.Leu829=) c.2484G>T (p.Leu828=) c.2448G>T (p.Leu816=) c.2367G>T (p.Leu789=) c.2286G>T (p.Leu762=) c.2205G>T (p.Leu735=) c.2202G>T (p.Leu734=) c.2127G>T (p.Leu709=) c.2124G>T (p.Leu708=) | |
17 | g.12992890C= | CA2248421444 | ELAC2 | c.2409G= (p.Leu803=) c.2352G= (p.Leu784=) c.2289G= (p.Leu763=) n.2296G= n.2238G= n.3239G= n.1955G= c.1808G= c.2406G= (p.Leu802=) c.2568G= (p.Leu856=) c.2490G= (p.Leu830=) c.2487G= (p.Leu829=) c.2484G= (p.Leu828=) c.2448G= (p.Leu816=) c.2367G= (p.Leu789=) c.2286G= (p.Leu762=) c.2205G= (p.Leu735=) c.2202G= (p.Leu734=) c.2127G= (p.Leu709=) c.2124G= (p.Leu708=) | |
17 | g.12992890C>G | CA498009591 | ELAC2 | c.2409G>C (p.Leu803=) c.2352G>C (p.Leu784=) c.2289G>C (p.Leu763=) n.2296G>C n.2238G>C n.3239G>C n.1955G>C c.1808G>C c.2406G>C (p.Leu802=) c.2568G>C (p.Leu856=) c.2490G>C (p.Leu830=) c.2487G>C (p.Leu829=) c.2484G>C (p.Leu828=) c.2448G>C (p.Leu816=) c.2367G>C (p.Leu789=) c.2286G>C (p.Leu762=) c.2205G>C (p.Leu735=) c.2202G>C (p.Leu734=) c.2127G>C (p.Leu709=) c.2124G>C (p.Leu708=) | |
17 | g.12992890C>T | CA8400802 | ELAC2 | c.2409G>A (p.Leu803=) c.2352G>A (p.Leu784=) c.2289G>A (p.Leu763=) n.2296G>A n.2238G>A n.3239G>A n.1955G>A c.1808G>A c.2406G>A (p.Leu802=) c.2568G>A (p.Leu856=) c.2490G>A (p.Leu830=) c.2487G>A (p.Leu829=) c.2484G>A (p.Leu828=) c.2448G>A (p.Leu816=) c.2367G>A (p.Leu789=) c.2286G>A (p.Leu762=) c.2205G>A (p.Leu735=) c.2202G>A (p.Leu734=) c.2127G>A (p.Leu709=) c.2124G>A (p.Leu708=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992891A>C | CA398222147 | ELAC2 | c.2408T>G (p.Leu803Arg) c.2351T>G (p.Leu784Arg) c.2288T>G (p.Leu763Arg) n.2295T>G n.2237T>G n.3238T>G n.1954T>G c.1807T>G c.2405T>G (p.Leu802Arg) c.2567T>G (p.Leu856Arg) c.2489T>G (p.Leu830Arg) c.2486T>G (p.Leu829Arg) c.2483T>G (p.Leu828Arg) c.2447T>G (p.Leu816Arg) c.2366T>G (p.Leu789Arg) c.2285T>G (p.Leu762Arg) c.2204T>G (p.Leu735Arg) c.2201T>G (p.Leu734Arg) c.2126T>G (p.Leu709Arg) c.2123T>G (p.Leu708Arg) | |
17 | g.12992891A>G | CA398222148 | ELAC2 | c.2408T>C (p.Leu803Pro) c.2351T>C (p.Leu784Pro) c.2288T>C (p.Leu763Pro) n.2295T>C n.2237T>C n.3238T>C n.1954T>C c.1807T>C c.2405T>C (p.Leu802Pro) c.2567T>C (p.Leu856Pro) c.2489T>C (p.Leu830Pro) c.2486T>C (p.Leu829Pro) c.2483T>C (p.Leu828Pro) c.2447T>C (p.Leu816Pro) c.2366T>C (p.Leu789Pro) c.2285T>C (p.Leu762Pro) c.2204T>C (p.Leu735Pro) c.2201T>C (p.Leu734Pro) c.2126T>C (p.Leu709Pro) c.2123T>C (p.Leu708Pro) | |
17 | g.12992891A>T | CA398222149 | ELAC2 | c.2408T>A (p.Leu803Gln) c.2351T>A (p.Leu784Gln) c.2288T>A (p.Leu763Gln) n.2295T>A n.2237T>A n.3238T>A n.1954T>A c.1807T>A c.2405T>A (p.Leu802Gln) c.2567T>A (p.Leu856Gln) c.2489T>A (p.Leu830Gln) c.2486T>A (p.Leu829Gln) c.2483T>A (p.Leu828Gln) c.2447T>A (p.Leu816Gln) c.2366T>A (p.Leu789Gln) c.2285T>A (p.Leu762Gln) c.2204T>A (p.Leu735Gln) c.2201T>A (p.Leu734Gln) c.2126T>A (p.Leu709Gln) c.2123T>A (p.Leu708Gln) | |
17 | g.12992892G>A | CA8400803 | ELAC2 | c.2407C>T (p.Leu803=) c.2350C>T (p.Leu784=) c.2287C>T (p.Leu763=) n.2294C>T n.2236C>T n.3237C>T n.1953C>T c.1806C>T c.2404C>T (p.Leu802=) c.2566C>T (p.Leu856=) c.2488C>T (p.Leu830=) c.2485C>T (p.Leu829=) c.2482C>T (p.Leu828=) c.2446C>T (p.Leu816=) c.2365C>T (p.Leu789=) c.2284C>T (p.Leu762=) c.2203C>T (p.Leu735=) c.2200C>T (p.Leu734=) c.2125C>T (p.Leu709=) c.2122C>T (p.Leu708=) | dbSNP ExAC |
17 | g.12992892G>C | CA398222150 | ELAC2 | c.2407C>G (p.Leu803Val) c.2350C>G (p.Leu784Val) c.2287C>G (p.Leu763Val) n.2294C>G n.2236C>G n.3237C>G n.1953C>G c.1806C>G c.2404C>G (p.Leu802Val) c.2566C>G (p.Leu856Val) c.2488C>G (p.Leu830Val) c.2485C>G (p.Leu829Val) c.2482C>G (p.Leu828Val) c.2446C>G (p.Leu816Val) c.2365C>G (p.Leu789Val) c.2284C>G (p.Leu762Val) c.2203C>G (p.Leu735Val) c.2200C>G (p.Leu734Val) c.2125C>G (p.Leu709Val) c.2122C>G (p.Leu708Val) | |
17 | g.12992892G= | CA2248421449 | ELAC2 | c.2407C= (p.Leu803=) c.2350C= (p.Leu784=) c.2287C= (p.Leu763=) n.2294C= n.2236C= n.3237C= n.1953C= c.1806C= c.2404C= (p.Leu802=) c.2566C= (p.Leu856=) c.2488C= (p.Leu830=) c.2485C= (p.Leu829=) c.2482C= (p.Leu828=) c.2446C= (p.Leu816=) c.2365C= (p.Leu789=) c.2284C= (p.Leu762=) c.2203C= (p.Leu735=) c.2200C= (p.Leu734=) c.2125C= (p.Leu709=) c.2122C= (p.Leu708=) | |
17 | g.12992892G>T | CA398222151 | ELAC2 | c.2407C>A (p.Leu803Met) c.2350C>A (p.Leu784Met) c.2287C>A (p.Leu763Met) n.2294C>A n.2236C>A n.3237C>A n.1953C>A c.1806C>A c.2404C>A (p.Leu802Met) c.2566C>A (p.Leu856Met) c.2488C>A (p.Leu830Met) c.2485C>A (p.Leu829Met) c.2482C>A (p.Leu828Met) c.2446C>A (p.Leu816Met) c.2365C>A (p.Leu789Met) c.2284C>A (p.Leu762Met) c.2203C>A (p.Leu735Met) c.2200C>A (p.Leu734Met) c.2125C>A (p.Leu709Met) c.2122C>A (p.Leu708Met) | |
17 | g.12992893G>A | CA498009592 | ELAC2 | c.2406C>T (p.Gly802=) c.2349C>T (p.Gly783=) c.2286C>T (p.Gly762=) n.2293C>T n.2235C>T n.3236C>T n.1952C>T c.1805C>T c.2403C>T (p.Gly801=) c.2565C>T (p.Gly855=) c.2487C>T (p.Gly829=) c.2484C>T (p.Gly828=) c.2481C>T (p.Gly827=) c.2445C>T (p.Gly815=) c.2364C>T (p.Gly788=) c.2283C>T (p.Gly761=) c.2202C>T (p.Gly734=) c.2199C>T (p.Gly733=) c.2124C>T (p.Gly708=) c.2121C>T (p.Gly707=) | dbSNP gnomAD v4 |
17 | g.12992893G>C | CA498009593 | ELAC2 | c.2406C>G (p.Gly802=) c.2349C>G (p.Gly783=) c.2286C>G (p.Gly762=) n.2293C>G n.2235C>G n.3236C>G n.1952C>G c.1805C>G c.2403C>G (p.Gly801=) c.2565C>G (p.Gly855=) c.2487C>G (p.Gly829=) c.2484C>G (p.Gly828=) c.2481C>G (p.Gly827=) c.2445C>G (p.Gly815=) c.2364C>G (p.Gly788=) c.2283C>G (p.Gly761=) c.2202C>G (p.Gly734=) c.2199C>G (p.Gly733=) c.2124C>G (p.Gly708=) c.2121C>G (p.Gly707=) | dbSNP |
17 | g.12992893G>T | CA498009594 | ELAC2 | c.2406C>A (p.Gly802=) c.2349C>A (p.Gly783=) c.2286C>A (p.Gly762=) n.2293C>A n.2235C>A n.3236C>A n.1952C>A c.1805C>A c.2403C>A (p.Gly801=) c.2565C>A (p.Gly855=) c.2487C>A (p.Gly829=) c.2484C>A (p.Gly828=) c.2481C>A (p.Gly827=) c.2445C>A (p.Gly815=) c.2364C>A (p.Gly788=) c.2283C>A (p.Gly761=) c.2202C>A (p.Gly734=) c.2199C>A (p.Gly733=) c.2124C>A (p.Gly708=) c.2121C>A (p.Gly707=) | |
17 | g.12992894C>A | CA398222154 | ELAC2 | c.2405G>T (p.Gly802Val) c.2348G>T (p.Gly783Val) c.2285G>T (p.Gly762Val) n.2292G>T n.2234G>T n.3235G>T n.1951G>T c.1804G>T c.2402G>T (p.Gly801Val) c.2564G>T (p.Gly855Val) c.2486G>T (p.Gly829Val) c.2483G>T (p.Gly828Val) c.2480G>T (p.Gly827Val) c.2444G>T (p.Gly815Val) c.2363G>T (p.Gly788Val) c.2282G>T (p.Gly761Val) c.2201G>T (p.Gly734Val) c.2198G>T (p.Gly733Val) c.2123G>T (p.Gly708Val) c.2120G>T (p.Gly707Val) | |
17 | g.12992894C>G | CA398222153 | ELAC2 | c.2405G>C (p.Gly802Ala) c.2348G>C (p.Gly783Ala) c.2285G>C (p.Gly762Ala) n.2292G>C n.2234G>C n.3235G>C n.1951G>C c.1804G>C c.2402G>C (p.Gly801Ala) c.2564G>C (p.Gly855Ala) c.2486G>C (p.Gly829Ala) c.2483G>C (p.Gly828Ala) c.2480G>C (p.Gly827Ala) c.2444G>C (p.Gly815Ala) c.2363G>C (p.Gly788Ala) c.2282G>C (p.Gly761Ala) c.2201G>C (p.Gly734Ala) c.2198G>C (p.Gly733Ala) c.2123G>C (p.Gly708Ala) c.2120G>C (p.Gly707Ala) | |
17 | g.12992894C>T | CA398222152 | ELAC2 | c.2405G>A (p.Gly802Asp) c.2348G>A (p.Gly783Asp) c.2285G>A (p.Gly762Asp) n.2292G>A n.2234G>A n.3235G>A n.1951G>A c.1804G>A c.2402G>A (p.Gly801Asp) c.2564G>A (p.Gly855Asp) c.2486G>A (p.Gly829Asp) c.2483G>A (p.Gly828Asp) c.2480G>A (p.Gly827Asp) c.2444G>A (p.Gly815Asp) c.2363G>A (p.Gly788Asp) c.2282G>A (p.Gly761Asp) c.2201G>A (p.Gly734Asp) c.2198G>A (p.Gly733Asp) c.2123G>A (p.Gly708Asp) c.2120G>A (p.Gly707Asp) | dbSNP gnomAD v4 |
17 | g.12992895C>A | CA398222155 | ELAC2 | c.2404G>T (p.Gly802Cys) c.2347G>T (p.Gly783Cys) c.2284G>T (p.Gly762Cys) n.2291G>T n.2233G>T n.3234G>T n.1950G>T c.1803G>T c.2401G>T (p.Gly801Cys) c.2563G>T (p.Gly855Cys) c.2485G>T (p.Gly829Cys) c.2482G>T (p.Gly828Cys) c.2479G>T (p.Gly827Cys) c.2443G>T (p.Gly815Cys) c.2362G>T (p.Gly788Cys) c.2281G>T (p.Gly761Cys) c.2200G>T (p.Gly734Cys) c.2197G>T (p.Gly733Cys) c.2122G>T (p.Gly708Cys) c.2119G>T (p.Gly707Cys) | |
17 | g.12992895C= | CA2248421456 | ELAC2 | c.2404G= (p.Gly802=) c.2347G= (p.Gly783=) c.2284G= (p.Gly762=) n.2291G= n.2233G= n.3234G= n.1950G= c.1803G= c.2401G= (p.Gly801=) c.2563G= (p.Gly855=) c.2485G= (p.Gly829=) c.2482G= (p.Gly828=) c.2479G= (p.Gly827=) c.2443G= (p.Gly815=) c.2362G= (p.Gly788=) c.2281G= (p.Gly761=) c.2200G= (p.Gly734=) c.2197G= (p.Gly733=) c.2122G= (p.Gly708=) c.2119G= (p.Gly707=) | |
17 | g.12992895C>G | CA398222156 | ELAC2 | c.2404G>C (p.Gly802Arg) c.2347G>C (p.Gly783Arg) c.2284G>C (p.Gly762Arg) n.2291G>C n.2233G>C n.3234G>C n.1950G>C c.1803G>C c.2401G>C (p.Gly801Arg) c.2563G>C (p.Gly855Arg) c.2485G>C (p.Gly829Arg) c.2482G>C (p.Gly828Arg) c.2479G>C (p.Gly827Arg) c.2443G>C (p.Gly815Arg) c.2362G>C (p.Gly788Arg) c.2281G>C (p.Gly761Arg) c.2200G>C (p.Gly734Arg) c.2197G>C (p.Gly733Arg) c.2122G>C (p.Gly708Arg) c.2119G>C (p.Gly707Arg) | |
17 | g.12992895C>T | CA8400804 | ELAC2 | c.2404G>A (p.Gly802Ser) c.2347G>A (p.Gly783Ser) c.2284G>A (p.Gly762Ser) n.2291G>A n.2233G>A n.3234G>A n.1950G>A c.1803G>A c.2401G>A (p.Gly801Ser) c.2563G>A (p.Gly855Ser) c.2485G>A (p.Gly829Ser) c.2482G>A (p.Gly828Ser) c.2479G>A (p.Gly827Ser) c.2443G>A (p.Gly815Ser) c.2362G>A (p.Gly788Ser) c.2281G>A (p.Gly761Ser) c.2200G>A (p.Gly734Ser) c.2197G>A (p.Gly733Ser) c.2122G>A (p.Gly708Ser) c.2119G>A (p.Gly707Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.12992896G>A | CA8400805 | ELAC2 | c.2403C>T (p.Gly801=) c.2346C>T (p.Gly782=) c.2283C>T (p.Gly761=) n.2290C>T n.2232C>T n.3233C>T n.1949C>T c.1802C>T c.2400C>T (p.Gly800=) c.2562C>T (p.Gly854=) c.2484C>T (p.Gly828=) c.2481C>T (p.Gly827=) c.2478C>T (p.Gly826=) c.2442C>T (p.Gly814=) c.2361C>T (p.Gly787=) c.2280C>T (p.Gly760=) c.2199C>T (p.Gly733=) c.2196C>T (p.Gly732=) c.2121C>T (p.Gly707=) c.2118C>T (p.Gly706=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.12992896G>C | CA498009595 | ELAC2 | c.2403C>G (p.Gly801=) c.2346C>G (p.Gly782=) c.2283C>G (p.Gly761=) n.2290C>G n.2232C>G n.3233C>G n.1949C>G c.1802C>G c.2400C>G (p.Gly800=) c.2562C>G (p.Gly854=) c.2484C>G (p.Gly828=) c.2481C>G (p.Gly827=) c.2478C>G (p.Gly826=) c.2442C>G (p.Gly814=) c.2361C>G (p.Gly787=) c.2280C>G (p.Gly760=) c.2199C>G (p.Gly733=) c.2196C>G (p.Gly732=) c.2121C>G (p.Gly707=) c.2118C>G (p.Gly706=) | |
17 | g.12992896G= | CA2248421460 | ELAC2 | c.2403C= (p.Gly801=) c.2346C= (p.Gly782=) c.2283C= (p.Gly761=) n.2290C= n.2232C= n.3233C= n.1949C= c.1802C= c.2400C= (p.Gly800=) c.2562C= (p.Gly854=) c.2484C= (p.Gly828=) c.2481C= (p.Gly827=) c.2478C= (p.Gly826=) c.2442C= (p.Gly814=) c.2361C= (p.Gly787=) c.2280C= (p.Gly760=) c.2199C= (p.Gly733=) c.2196C= (p.Gly732=) c.2121C= (p.Gly707=) c.2118C= (p.Gly706=) | |
17 | g.12992896G>T | CA498009596 | ELAC2 | c.2403C>A (p.Gly801=) c.2346C>A (p.Gly782=) c.2283C>A (p.Gly761=) n.2290C>A n.2232C>A n.3233C>A n.1949C>A c.1802C>A c.2400C>A (p.Gly800=) c.2562C>A (p.Gly854=) c.2484C>A (p.Gly828=) c.2481C>A (p.Gly827=) c.2478C>A (p.Gly826=) c.2442C>A (p.Gly814=) c.2361C>A (p.Gly787=) c.2280C>A (p.Gly760=) c.2199C>A (p.Gly733=) c.2196C>A (p.Gly732=) c.2121C>A (p.Gly707=) c.2118C>A (p.Gly706=) | gnomAD v4 |
17 | g.12992897C>A | CA398222157 | ELAC2 | c.2402G>T (p.Gly801Val) c.2345G>T (p.Gly782Val) c.2282G>T (p.Gly761Val) n.2289G>T n.2231G>T n.3232G>T n.1948G>T c.1801G>T c.2399G>T (p.Gly800Val) c.2561G>T (p.Gly854Val) c.2483G>T (p.Gly828Val) c.2480G>T (p.Gly827Val) c.2477G>T (p.Gly826Val) c.2441G>T (p.Gly814Val) c.2360G>T (p.Gly787Val) c.2279G>T (p.Gly760Val) c.2198G>T (p.Gly733Val) c.2195G>T (p.Gly732Val) c.2120G>T (p.Gly707Val) c.2117G>T (p.Gly706Val) | |
17 | g.12992897C>G | CA398222158 | ELAC2 | c.2402G>C (p.Gly801Ala) c.2345G>C (p.Gly782Ala) c.2282G>C (p.Gly761Ala) n.2289G>C n.2231G>C n.3232G>C n.1948G>C c.1801G>C c.2399G>C (p.Gly800Ala) c.2561G>C (p.Gly854Ala) c.2483G>C (p.Gly828Ala) c.2480G>C (p.Gly827Ala) c.2477G>C (p.Gly826Ala) c.2441G>C (p.Gly814Ala) c.2360G>C (p.Gly787Ala) c.2279G>C (p.Gly760Ala) c.2198G>C (p.Gly733Ala) c.2195G>C (p.Gly732Ala) c.2120G>C (p.Gly707Ala) c.2117G>C (p.Gly706Ala) | |
17 | g.12992897C>T | CA398222159 | ELAC2 | c.2402G>A (p.Gly801Asp) c.2345G>A (p.Gly782Asp) c.2282G>A (p.Gly761Asp) n.2289G>A n.2231G>A n.3232G>A n.1948G>A c.1801G>A c.2399G>A (p.Gly800Asp) c.2561G>A (p.Gly854Asp) c.2483G>A (p.Gly828Asp) c.2480G>A (p.Gly827Asp) c.2477G>A (p.Gly826Asp) c.2441G>A (p.Gly814Asp) c.2360G>A (p.Gly787Asp) c.2279G>A (p.Gly760Asp) c.2198G>A (p.Gly733Asp) c.2195G>A (p.Gly732Asp) c.2120G>A (p.Gly707Asp) c.2117G>A (p.Gly706Asp) | ClinVar gnomAD v4 |
17 | g.12992898dup | CA2840256616 | ELAC2 | c.2402dup (p.Gly802ArgfsTer?) c.2345dup (p.Gly783ArgfsTer?) c.2282dup (p.Gly762ArgfsTer?) n.2289dup n.2231dup n.3232dup n.1948dup c.1801dup c.2399dup (p.Gly801ArgfsTer?) c.2561dup (p.Gly855ArgfsTer?) c.2483dup (p.Gly829ArgfsTer?) c.2480dup (p.Gly828ArgfsTer?) c.2477dup (p.Gly827ArgfsTer?) c.2441dup (p.Gly815ArgfsTer?) c.2360dup (p.Gly788ArgfsTer?) c.2279dup (p.Gly761ArgfsTer?) c.2198dup (p.Gly734ArgfsTer?) c.2195dup (p.Gly733ArgfsTer?) c.2120dup (p.Gly708ArgfsTer?) c.2117dup (p.Gly707ArgfsTer?) | |
17 | g.12992898C>A | CA398222160 | ELAC2 | c.2401G>T (p.Gly801Cys) c.2344G>T (p.Gly782Cys) c.2281G>T (p.Gly761Cys) n.2288G>T n.2230G>T n.3231G>T n.1947G>T c.1800G>T c.2398G>T (p.Gly800Cys) c.2560G>T (p.Gly854Cys) c.2482G>T (p.Gly828Cys) c.2479G>T (p.Gly827Cys) c.2476G>T (p.Gly826Cys) c.2440G>T (p.Gly814Cys) c.2359G>T (p.Gly787Cys) c.2278G>T (p.Gly760Cys) c.2197G>T (p.Gly733Cys) c.2194G>T (p.Gly732Cys) c.2119G>T (p.Gly707Cys) c.2116G>T (p.Gly706Cys) | |
17 | g.12992898C>G | CA398222161 | ELAC2 | c.2401G>C (p.Gly801Arg) c.2344G>C (p.Gly782Arg) c.2281G>C (p.Gly761Arg) n.2288G>C n.2230G>C n.3231G>C n.1947G>C c.1800G>C c.2398G>C (p.Gly800Arg) c.2560G>C (p.Gly854Arg) c.2482G>C (p.Gly828Arg) c.2479G>C (p.Gly827Arg) c.2476G>C (p.Gly826Arg) c.2440G>C (p.Gly814Arg) c.2359G>C (p.Gly787Arg) c.2278G>C (p.Gly760Arg) c.2197G>C (p.Gly733Arg) c.2194G>C (p.Gly732Arg) c.2119G>C (p.Gly707Arg) c.2116G>C (p.Gly706Arg) | |
17 | g.12992898C>T | CA398222162 | ELAC2 | c.2401G>A (p.Gly801Ser) c.2344G>A (p.Gly782Ser) c.2281G>A (p.Gly761Ser) n.2288G>A n.2230G>A n.3231G>A n.1947G>A c.1800G>A c.2398G>A (p.Gly800Ser) c.2560G>A (p.Gly854Ser) c.2482G>A (p.Gly828Ser) c.2479G>A (p.Gly827Ser) c.2476G>A (p.Gly826Ser) c.2440G>A (p.Gly814Ser) c.2359G>A (p.Gly787Ser) c.2278G>A (p.Gly760Ser) c.2197G>A (p.Gly733Ser) c.2194G>A (p.Gly732Ser) c.2119G>A (p.Gly707Ser) c.2116G>A (p.Gly706Ser) | |
17 | g.12992899T>A | CA498009598 | ELAC2 | c.2400A>T (p.Ala800=) c.2343A>T (p.Ala781=) c.2280A>T (p.Ala760=) n.2287A>T n.2229A>T n.3230A>T n.1946A>T c.1799A>T c.2397A>T (p.Ala799=) c.2559A>T (p.Ala853=) c.2481A>T (p.Ala827=) c.2478A>T (p.Ala826=) c.2475A>T (p.Ala825=) c.2439A>T (p.Ala813=) c.2358A>T (p.Ala786=) c.2277A>T (p.Ala759=) c.2196A>T (p.Ala732=) c.2193A>T (p.Ala731=) c.2118A>T (p.Ala706=) c.2115A>T (p.Ala705=) | |
17 | g.12992899T>C | CA8400806 | ELAC2 | c.2400A>G (p.Ala800=) c.2343A>G (p.Ala781=) c.2280A>G (p.Ala760=) n.2287A>G n.2229A>G n.3230A>G n.1946A>G c.1799A>G c.2397A>G (p.Ala799=) c.2559A>G (p.Ala853=) c.2481A>G (p.Ala827=) c.2478A>G (p.Ala826=) c.2475A>G (p.Ala825=) c.2439A>G (p.Ala813=) c.2358A>G (p.Ala786=) c.2277A>G (p.Ala759=) c.2196A>G (p.Ala732=) c.2193A>G (p.Ala731=) c.2118A>G (p.Ala706=) c.2115A>G (p.Ala705=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.12992899T>G | CA498009597 | ELAC2 | c.2400A>C (p.Ala800=) c.2343A>C (p.Ala781=) c.2280A>C (p.Ala760=) n.2287A>C n.2229A>C n.3230A>C n.1946A>C c.1799A>C c.2397A>C (p.Ala799=) c.2559A>C (p.Ala853=) c.2481A>C (p.Ala827=) c.2478A>C (p.Ala826=) c.2475A>C (p.Ala825=) c.2439A>C (p.Ala813=) c.2358A>C (p.Ala786=) c.2277A>C (p.Ala759=) c.2196A>C (p.Ala732=) c.2193A>C (p.Ala731=) c.2118A>C (p.Ala706=) c.2115A>C (p.Ala705=) | |
17 | g.12992899T= | CA2248421466 | ELAC2 | c.2400A= (p.Ala800=) c.2343A= (p.Ala781=) c.2280A= (p.Ala760=) n.2287A= n.2229A= n.3230A= n.1946A= c.1799A= c.2397A= (p.Ala799=) c.2559A= (p.Ala853=) c.2481A= (p.Ala827=) c.2478A= (p.Ala826=) c.2475A= (p.Ala825=) c.2439A= (p.Ala813=) c.2358A= (p.Ala786=) c.2277A= (p.Ala759=) c.2196A= (p.Ala732=) c.2193A= (p.Ala731=) c.2118A= (p.Ala706=) c.2115A= (p.Ala705=) | |
17 | g.12992900G>A | CA398222163 | ELAC2 | c.2399C>T (p.Ala800Val) c.2342C>T (p.Ala781Val) c.2279C>T (p.Ala760Val) n.2286C>T n.2228C>T n.3229C>T n.1945C>T c.1798C>T c.2396C>T (p.Ala799Val) c.2558C>T (p.Ala853Val) c.2480C>T (p.Ala827Val) c.2477C>T (p.Ala826Val) c.2474C>T (p.Ala825Val) c.2438C>T (p.Ala813Val) c.2357C>T (p.Ala786Val) c.2276C>T (p.Ala759Val) c.2195C>T (p.Ala732Val) c.2192C>T (p.Ala731Val) c.2117C>T (p.Ala706Val) c.2114C>T (p.Ala705Val) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.12992900G>C | CA398222164 | ELAC2 | c.2399C>G (p.Ala800Gly) c.2342C>G (p.Ala781Gly) c.2279C>G (p.Ala760Gly) n.2286C>G n.2228C>G n.3229C>G n.1945C>G c.1798C>G c.2396C>G (p.Ala799Gly) c.2558C>G (p.Ala853Gly) c.2480C>G (p.Ala827Gly) c.2477C>G (p.Ala826Gly) c.2474C>G (p.Ala825Gly) c.2438C>G (p.Ala813Gly) c.2357C>G (p.Ala786Gly) c.2276C>G (p.Ala759Gly) c.2195C>G (p.Ala732Gly) c.2192C>G (p.Ala731Gly) c.2117C>G (p.Ala706Gly) c.2114C>G (p.Ala705Gly) | |
17 | g.12992900G= | CA2248421469 | ELAC2 | c.2399C= (p.Ala800=) c.2342C= (p.Ala781=) c.2279C= (p.Ala760=) n.2286C= n.2228C= n.3229C= n.1945C= c.1798C= c.2396C= (p.Ala799=) c.2558C= (p.Ala853=) c.2480C= (p.Ala827=) c.2477C= (p.Ala826=) c.2474C= (p.Ala825=) c.2438C= (p.Ala813=) c.2357C= (p.Ala786=) c.2276C= (p.Ala759=) c.2195C= (p.Ala732=) c.2192C= (p.Ala731=) c.2117C= (p.Ala706=) c.2114C= (p.Ala705=) | |
17 | g.12992900G>T | CA398222165 | ELAC2 | c.2399C>A (p.Ala800Glu) c.2342C>A (p.Ala781Glu) c.2279C>A (p.Ala760Glu) n.2286C>A n.2228C>A n.3229C>A n.1945C>A c.1798C>A c.2396C>A (p.Ala799Glu) c.2558C>A (p.Ala853Glu) c.2480C>A (p.Ala827Glu) c.2477C>A (p.Ala826Glu) c.2474C>A (p.Ala825Glu) c.2438C>A (p.Ala813Glu) c.2357C>A (p.Ala786Glu) c.2276C>A (p.Ala759Glu) c.2195C>A (p.Ala732Glu) c.2192C>A (p.Ala731Glu) c.2117C>A (p.Ala706Glu) c.2114C>A (p.Ala705Glu) | |
17 | g.12992901C>A | CA398222168 | ELAC2 | c.2398G>T (p.Ala800Ser) c.2341G>T (p.Ala781Ser) c.2278G>T (p.Ala760Ser) n.2285G>T n.2227G>T n.3228G>T n.1944G>T c.1797G>T c.2395G>T (p.Ala799Ser) c.2557G>T (p.Ala853Ser) c.2479G>T (p.Ala827Ser) c.2476G>T (p.Ala826Ser) c.2473G>T (p.Ala825Ser) c.2437G>T (p.Ala813Ser) c.2356G>T (p.Ala786Ser) c.2275G>T (p.Ala759Ser) c.2194G>T (p.Ala732Ser) c.2191G>T (p.Ala731Ser) c.2116G>T (p.Ala706Ser) c.2113G>T (p.Ala705Ser) | |
17 | g.12992901C= | CA2248421472 | ELAC2 | c.2398G= (p.Ala800=) c.2341G= (p.Ala781=) c.2278G= (p.Ala760=) n.2285G= n.2227G= n.3228G= n.1944G= c.1797G= c.2395G= (p.Ala799=) c.2557G= (p.Ala853=) c.2479G= (p.Ala827=) c.2476G= (p.Ala826=) c.2473G= (p.Ala825=) c.2437G= (p.Ala813=) c.2356G= (p.Ala786=) c.2275G= (p.Ala759=) c.2194G= (p.Ala732=) c.2191G= (p.Ala731=) c.2116G= (p.Ala706=) c.2113G= (p.Ala705=) | |
17 | g.12992901C>G | CA398222167 | ELAC2 | c.2398G>C (p.Ala800Pro) c.2341G>C (p.Ala781Pro) c.2278G>C (p.Ala760Pro) n.2285G>C n.2227G>C n.3228G>C n.1944G>C c.1797G>C c.2395G>C (p.Ala799Pro) c.2557G>C (p.Ala853Pro) c.2479G>C (p.Ala827Pro) c.2476G>C (p.Ala826Pro) c.2473G>C (p.Ala825Pro) c.2437G>C (p.Ala813Pro) c.2356G>C (p.Ala786Pro) c.2275G>C (p.Ala759Pro) c.2194G>C (p.Ala732Pro) c.2191G>C (p.Ala731Pro) c.2116G>C (p.Ala706Pro) c.2113G>C (p.Ala705Pro) | |
17 | g.12992901C>T | CA398222166 | ELAC2 | c.2398G>A (p.Ala800Thr) c.2341G>A (p.Ala781Thr) c.2278G>A (p.Ala760Thr) n.2285G>A n.2227G>A n.3228G>A n.1944G>A c.1797G>A c.2395G>A (p.Ala799Thr) c.2557G>A (p.Ala853Thr) c.2479G>A (p.Ala827Thr) c.2476G>A (p.Ala826Thr) c.2473G>A (p.Ala825Thr) c.2437G>A (p.Ala813Thr) c.2356G>A (p.Ala786Thr) c.2275G>A (p.Ala759Thr) c.2194G>A (p.Ala732Thr) c.2191G>A (p.Ala731Thr) c.2116G>A (p.Ala706Thr) c.2113G>A (p.Ala705Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992902C>A | CA498009600 | ELAC2 | c.2397G>T (p.Leu799=) c.2340G>T (p.Leu780=) c.2277G>T (p.Leu759=) n.2284G>T n.2226G>T n.3227G>T n.1943G>T c.1796G>T c.2394G>T (p.Leu798=) c.2556G>T (p.Leu852=) c.2478G>T (p.Leu826=) c.2475G>T (p.Leu825=) c.2472G>T (p.Leu824=) c.2436G>T (p.Leu812=) c.2355G>T (p.Leu785=) c.2274G>T (p.Leu758=) c.2193G>T (p.Leu731=) c.2190G>T (p.Leu730=) c.2115G>T (p.Leu705=) c.2112G>T (p.Leu704=) | |
17 | g.12992902C= | CA2248421476 | ELAC2 | c.2397G= (p.Leu799=) c.2340G= (p.Leu780=) c.2277G= (p.Leu759=) n.2284G= n.2226G= n.3227G= n.1943G= c.1796G= c.2394G= (p.Leu798=) c.2556G= (p.Leu852=) c.2478G= (p.Leu826=) c.2475G= (p.Leu825=) c.2472G= (p.Leu824=) c.2436G= (p.Leu812=) c.2355G= (p.Leu785=) c.2274G= (p.Leu758=) c.2193G= (p.Leu731=) c.2190G= (p.Leu730=) c.2115G= (p.Leu705=) c.2112G= (p.Leu704=) | |
17 | g.12992902C>G | CA498009599 | ELAC2 | c.2397G>C (p.Leu799=) c.2340G>C (p.Leu780=) c.2277G>C (p.Leu759=) n.2284G>C n.2226G>C n.3227G>C n.1943G>C c.1796G>C c.2394G>C (p.Leu798=) c.2556G>C (p.Leu852=) c.2478G>C (p.Leu826=) c.2475G>C (p.Leu825=) c.2472G>C (p.Leu824=) c.2436G>C (p.Leu812=) c.2355G>C (p.Leu785=) c.2274G>C (p.Leu758=) c.2193G>C (p.Leu731=) c.2190G>C (p.Leu730=) c.2115G>C (p.Leu705=) c.2112G>C (p.Leu704=) | |
17 | g.12992902C>T | CA8400807 | ELAC2 | c.2397G>A (p.Leu799=) c.2340G>A (p.Leu780=) c.2277G>A (p.Leu759=) n.2284G>A n.2226G>A n.3227G>A n.1943G>A c.1796G>A c.2394G>A (p.Leu798=) c.2556G>A (p.Leu852=) c.2478G>A (p.Leu826=) c.2475G>A (p.Leu825=) c.2472G>A (p.Leu824=) c.2436G>A (p.Leu812=) c.2355G>A (p.Leu785=) c.2274G>A (p.Leu758=) c.2193G>A (p.Leu731=) c.2190G>A (p.Leu730=) c.2115G>A (p.Leu705=) c.2112G>A (p.Leu704=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.12992903A>C | CA398222171 | ELAC2 | c.2396T>G (p.Leu799Arg) c.2339T>G (p.Leu780Arg) c.2276T>G (p.Leu759Arg) n.2283T>G n.2225T>G n.3226T>G n.1942T>G c.1795T>G c.2393T>G (p.Leu798Arg) c.2555T>G (p.Leu852Arg) c.2477T>G (p.Leu826Arg) c.2474T>G (p.Leu825Arg) c.2471T>G (p.Leu824Arg) c.2435T>G (p.Leu812Arg) c.2354T>G (p.Leu785Arg) c.2273T>G (p.Leu758Arg) c.2192T>G (p.Leu731Arg) c.2189T>G (p.Leu730Arg) c.2114T>G (p.Leu705Arg) c.2111T>G (p.Leu704Arg) | |
17 | g.12992903A>G | CA398222169 | ELAC2 | c.2396T>C (p.Leu799Pro) c.2339T>C (p.Leu780Pro) c.2276T>C (p.Leu759Pro) n.2283T>C n.2225T>C n.3226T>C n.1942T>C c.1795T>C c.2393T>C (p.Leu798Pro) c.2555T>C (p.Leu852Pro) c.2477T>C (p.Leu826Pro) c.2474T>C (p.Leu825Pro) c.2471T>C (p.Leu824Pro) c.2435T>C (p.Leu812Pro) c.2354T>C (p.Leu785Pro) c.2273T>C (p.Leu758Pro) c.2192T>C (p.Leu731Pro) c.2189T>C (p.Leu730Pro) c.2114T>C (p.Leu705Pro) c.2111T>C (p.Leu704Pro) | |
17 | g.12992903A>T | CA398222170 | ELAC2 | c.2396T>A (p.Leu799Gln) c.2339T>A (p.Leu780Gln) c.2276T>A (p.Leu759Gln) n.2283T>A n.2225T>A n.3226T>A n.1942T>A c.1795T>A c.2393T>A (p.Leu798Gln) c.2555T>A (p.Leu852Gln) c.2477T>A (p.Leu826Gln) c.2474T>A (p.Leu825Gln) c.2471T>A (p.Leu824Gln) c.2435T>A (p.Leu812Gln) c.2354T>A (p.Leu785Gln) c.2273T>A (p.Leu758Gln) c.2192T>A (p.Leu731Gln) c.2189T>A (p.Leu730Gln) c.2114T>A (p.Leu705Gln) c.2111T>A (p.Leu704Gln) | |
17 | g.12992904G>A | CA498009601 | ELAC2 | c.2395C>T (p.Leu799=) c.2338C>T (p.Leu780=) c.2275C>T (p.Leu759=) n.2282C>T n.2224C>T n.3225C>T n.1941C>T c.1794C>T c.2392C>T (p.Leu798=) c.2554C>T (p.Leu852=) c.2476C>T (p.Leu826=) c.2473C>T (p.Leu825=) c.2470C>T (p.Leu824=) c.2434C>T (p.Leu812=) c.2353C>T (p.Leu785=) c.2272C>T (p.Leu758=) c.2191C>T (p.Leu731=) c.2188C>T (p.Leu730=) c.2113C>T (p.Leu705=) c.2110C>T (p.Leu704=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.12992904G>C | CA398222172 | ELAC2 | c.2395C>G (p.Leu799Val) c.2338C>G (p.Leu780Val) c.2275C>G (p.Leu759Val) n.2282C>G n.2224C>G n.3225C>G n.1941C>G c.1794C>G c.2392C>G (p.Leu798Val) c.2554C>G (p.Leu852Val) c.2476C>G (p.Leu826Val) c.2473C>G (p.Leu825Val) c.2470C>G (p.Leu824Val) c.2434C>G (p.Leu812Val) c.2353C>G (p.Leu785Val) c.2272C>G (p.Leu758Val) c.2191C>G (p.Leu731Val) c.2188C>G (p.Leu730Val) c.2113C>G (p.Leu705Val) c.2110C>G (p.Leu704Val) | |
17 | g.12992904G= | CA2248421478 | ELAC2 | c.2395C= (p.Leu799=) c.2338C= (p.Leu780=) c.2275C= (p.Leu759=) n.2282C= n.2224C= n.3225C= n.1941C= c.1794C= c.2392C= (p.Leu798=) c.2554C= (p.Leu852=) c.2476C= (p.Leu826=) c.2473C= (p.Leu825=) c.2470C= (p.Leu824=) c.2434C= (p.Leu812=) c.2353C= (p.Leu785=) c.2272C= (p.Leu758=) c.2191C= (p.Leu731=) c.2188C= (p.Leu730=) c.2113C= (p.Leu705=) c.2110C= (p.Leu704=) | |
17 | g.12992904G>T | CA398222173 | ELAC2 | c.2395C>A (p.Leu799Met) c.2338C>A (p.Leu780Met) c.2275C>A (p.Leu759Met) n.2282C>A n.2224C>A n.3225C>A n.1941C>A c.1794C>A c.2392C>A (p.Leu798Met) c.2554C>A (p.Leu852Met) c.2476C>A (p.Leu826Met) c.2473C>A (p.Leu825Met) c.2470C>A (p.Leu824Met) c.2434C>A (p.Leu812Met) c.2353C>A (p.Leu785Met) c.2272C>A (p.Leu758Met) c.2191C>A (p.Leu731Met) c.2188C>A (p.Leu730Met) c.2113C>A (p.Leu705Met) c.2110C>A (p.Leu704Met) | |
17 | g.12992905C>A | CA398222174 | ELAC2 | c.2394G>T (p.Glu798Asp) c.2337G>T (p.Glu779Asp) c.2274G>T (p.Glu758Asp) n.2281G>T n.2223G>T n.3224G>T n.1940G>T c.1793G>T c.2391G>T (p.Glu797Asp) c.2553G>T (p.Glu851Asp) c.2475G>T (p.Glu825Asp) c.2472G>T (p.Glu824Asp) c.2469G>T (p.Glu823Asp) c.2433G>T (p.Glu811Asp) c.2352G>T (p.Glu784Asp) c.2271G>T (p.Glu757Asp) c.2190G>T (p.Glu730Asp) c.2187G>T (p.Glu729Asp) c.2112G>T (p.Glu704Asp) c.2109G>T (p.Glu703Asp) | dbSNP |
17 | g.12992905C>G | CA398222175 | ELAC2 | c.2394G>C (p.Glu798Asp) c.2337G>C (p.Glu779Asp) c.2274G>C (p.Glu758Asp) n.2281G>C n.2223G>C n.3224G>C n.1940G>C c.1793G>C c.2391G>C (p.Glu797Asp) c.2553G>C (p.Glu851Asp) c.2475G>C (p.Glu825Asp) c.2472G>C (p.Glu824Asp) c.2469G>C (p.Glu823Asp) c.2433G>C (p.Glu811Asp) c.2352G>C (p.Glu784Asp) c.2271G>C (p.Glu757Asp) c.2190G>C (p.Glu730Asp) c.2187G>C (p.Glu729Asp) c.2112G>C (p.Glu704Asp) c.2109G>C (p.Glu703Asp) | |
17 | g.12992905C>T | CA498009602 | ELAC2 | c.2394G>A (p.Glu798=) c.2337G>A (p.Glu779=) c.2274G>A (p.Glu758=) n.2281G>A n.2223G>A n.3224G>A n.1940G>A c.1793G>A c.2391G>A (p.Glu797=) c.2553G>A (p.Glu851=) c.2475G>A (p.Glu825=) c.2472G>A (p.Glu824=) c.2469G>A (p.Glu823=) c.2433G>A (p.Glu811=) c.2352G>A (p.Glu784=) c.2271G>A (p.Glu757=) c.2190G>A (p.Glu730=) c.2187G>A (p.Glu729=) c.2112G>A (p.Glu704=) c.2109G>A (p.Glu703=) | gnomAD v4 |
17 | g.12992906T>A | CA8400809 | ELAC2 | c.2393A>T (p.Glu798Val) c.2336A>T (p.Glu779Val) c.2273A>T (p.Glu758Val) n.2280A>T n.2222A>T n.3223A>T n.1939A>T c.1792A>T c.2390A>T (p.Glu797Val) c.2552A>T (p.Glu851Val) c.2474A>T (p.Glu825Val) c.2471A>T (p.Glu824Val) c.2468A>T (p.Glu823Val) c.2432A>T (p.Glu811Val) c.2351A>T (p.Glu784Val) c.2270A>T (p.Glu757Val) c.2189A>T (p.Glu730Val) c.2186A>T (p.Glu729Val) c.2111A>T (p.Glu704Val) c.2108A>T (p.Glu703Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992906T>C | CA398222176 | ELAC2 | c.2393A>G (p.Glu798Gly) c.2336A>G (p.Glu779Gly) c.2273A>G (p.Glu758Gly) n.2280A>G n.2222A>G n.3223A>G n.1939A>G c.1792A>G c.2390A>G (p.Glu797Gly) c.2552A>G (p.Glu851Gly) c.2474A>G (p.Glu825Gly) c.2471A>G (p.Glu824Gly) c.2468A>G (p.Glu823Gly) c.2432A>G (p.Glu811Gly) c.2351A>G (p.Glu784Gly) c.2270A>G (p.Glu757Gly) c.2189A>G (p.Glu730Gly) c.2186A>G (p.Glu729Gly) c.2111A>G (p.Glu704Gly) c.2108A>G (p.Glu703Gly) | gnomAD v4 |
17 | g.12992906T>G | CA8400808 | ELAC2 | c.2393A>C (p.Glu798Ala) c.2336A>C (p.Glu779Ala) c.2273A>C (p.Glu758Ala) n.2280A>C n.2222A>C n.3223A>C n.1939A>C c.1792A>C c.2390A>C (p.Glu797Ala) c.2552A>C (p.Glu851Ala) c.2474A>C (p.Glu825Ala) c.2471A>C (p.Glu824Ala) c.2468A>C (p.Glu823Ala) c.2432A>C (p.Glu811Ala) c.2351A>C (p.Glu784Ala) c.2270A>C (p.Glu757Ala) c.2189A>C (p.Glu730Ala) c.2186A>C (p.Glu729Ala) c.2111A>C (p.Glu704Ala) c.2108A>C (p.Glu703Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992906T= | CA2248421483 | ELAC2 | c.2393A= (p.Glu798=) c.2336A= (p.Glu779=) c.2273A= (p.Glu758=) n.2280A= n.2222A= n.3223A= n.1939A= c.1792A= c.2390A= (p.Glu797=) c.2552A= (p.Glu851=) c.2474A= (p.Glu825=) c.2471A= (p.Glu824=) c.2468A= (p.Glu823=) c.2432A= (p.Glu811=) c.2351A= (p.Glu784=) c.2270A= (p.Glu757=) c.2189A= (p.Glu730=) c.2186A= (p.Glu729=) c.2111A= (p.Glu704=) c.2108A= (p.Glu703=) | |
17 | g.12992906_12992907delinsAA | CA2573153040 | ELAC2 | c.2392_2393delinsTT (p.Glu798Leu) c.2335_2336delinsTT (p.Glu779Leu) c.2272_2273delinsTT (p.Glu758Leu) n.2279_2280delinsTT n.2221_2222delinsTT n.3222_3223delinsTT n.1938_1939delinsTT c.1791_1792delinsTT c.2389_2390delinsTT (p.Glu797Leu) c.2551_2552delinsTT (p.Glu851Leu) c.2473_2474delinsTT (p.Glu825Leu) c.2470_2471delinsTT (p.Glu824Leu) c.2467_2468delinsTT (p.Glu823Leu) c.2431_2432delinsTT (p.Glu811Leu) c.2350_2351delinsTT (p.Glu784Leu) c.2269_2270delinsTT (p.Glu757Leu) c.2188_2189delinsTT (p.Glu730Leu) c.2185_2186delinsTT (p.Glu729Leu) c.2110_2111delinsTT (p.Glu704Leu) c.2107_2108delinsTT (p.Glu703Leu) | ClinVar dbSNP |
17 | g.12992906_12992907delinsGA | CA2573153039 | ELAC2 | c.2392_2393delinsTC (p.Glu798Ser) c.2335_2336delinsTC (p.Glu779Ser) c.2272_2273delinsTC (p.Glu758Ser) n.2279_2280delinsTC n.2221_2222delinsTC n.3222_3223delinsTC n.1938_1939delinsTC c.1791_1792delinsTC c.2389_2390delinsTC (p.Glu797Ser) c.2551_2552delinsTC (p.Glu851Ser) c.2473_2474delinsTC (p.Glu825Ser) c.2470_2471delinsTC (p.Glu824Ser) c.2467_2468delinsTC (p.Glu823Ser) c.2431_2432delinsTC (p.Glu811Ser) c.2350_2351delinsTC (p.Glu784Ser) c.2269_2270delinsTC (p.Glu757Ser) c.2188_2189delinsTC (p.Glu730Ser) c.2185_2186delinsTC (p.Glu729Ser) c.2110_2111delinsTC (p.Glu704Ser) c.2107_2108delinsTC (p.Glu703Ser) | ClinVar |
17 | g.12992906_12992907delinsTC | CA2248421482 | ELAC2 | c.2392_2393delinsGA (p.Glu798=) c.2335_2336delinsGA (p.Glu779=) c.2272_2273delinsGA (p.Glu758=) n.2279_2280delinsGA n.2221_2222delinsGA n.3222_3223delinsGA n.1938_1939delinsGA c.1791_1792delinsGA c.2389_2390delinsGA (p.Glu797=) c.2551_2552delinsGA (p.Glu851=) c.2473_2474delinsGA (p.Glu825=) c.2470_2471delinsGA (p.Glu824=) c.2467_2468delinsGA (p.Glu823=) c.2431_2432delinsGA (p.Glu811=) c.2350_2351delinsGA (p.Glu784=) c.2269_2270delinsGA (p.Glu757=) c.2188_2189delinsGA (p.Glu730=) c.2185_2186delinsGA (p.Glu729=) c.2110_2111delinsGA (p.Glu704=) c.2107_2108delinsGA (p.Glu703=) | |
17 | g.12992907C>A | CA8400810 | ELAC2 | c.2392G>T (p.Glu798Ter) c.2335G>T (p.Glu779Ter) c.2272G>T (p.Glu758Ter) n.2279G>T n.2221G>T n.3222G>T n.1938G>T c.1791G>T c.2389G>T (p.Glu797Ter) c.2551G>T (p.Glu851Ter) c.2473G>T (p.Glu825Ter) c.2470G>T (p.Glu824Ter) c.2467G>T (p.Glu823Ter) c.2431G>T (p.Glu811Ter) c.2350G>T (p.Glu784Ter) c.2269G>T (p.Glu757Ter) c.2188G>T (p.Glu730Ter) c.2185G>T (p.Glu729Ter) c.2110G>T (p.Glu704Ter) c.2107G>T (p.Glu703Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992907C= | CA2248421488 | ELAC2 | c.2392G= (p.Glu798=) c.2335G= (p.Glu779=) c.2272G= (p.Glu758=) n.2279G= n.2221G= n.3222G= n.1938G= c.1791G= c.2389G= (p.Glu797=) c.2551G= (p.Glu851=) c.2473G= (p.Glu825=) c.2470G= (p.Glu824=) c.2467G= (p.Glu823=) c.2431G= (p.Glu811=) c.2350G= (p.Glu784=) c.2269G= (p.Glu757=) c.2188G= (p.Glu730=) c.2185G= (p.Glu729=) c.2110G= (p.Glu704=) c.2107G= (p.Glu703=) | |
17 | g.12992907C>G | CA398222177 | ELAC2 | c.2392G>C (p.Glu798Gln) c.2335G>C (p.Glu779Gln) c.2272G>C (p.Glu758Gln) n.2279G>C n.2221G>C n.3222G>C n.1938G>C c.1791G>C c.2389G>C (p.Glu797Gln) c.2551G>C (p.Glu851Gln) c.2473G>C (p.Glu825Gln) c.2470G>C (p.Glu824Gln) c.2467G>C (p.Glu823Gln) c.2431G>C (p.Glu811Gln) c.2350G>C (p.Glu784Gln) c.2269G>C (p.Glu757Gln) c.2188G>C (p.Glu730Gln) c.2185G>C (p.Glu729Gln) c.2110G>C (p.Glu704Gln) c.2107G>C (p.Glu703Gln) | |
17 | g.12992907C>T | CA398222178 | ELAC2 | c.2392G>A (p.Glu798Lys) c.2335G>A (p.Glu779Lys) c.2272G>A (p.Glu758Lys) n.2279G>A n.2221G>A n.3222G>A n.1938G>A c.1791G>A c.2389G>A (p.Glu797Lys) c.2551G>A (p.Glu851Lys) c.2473G>A (p.Glu825Lys) c.2470G>A (p.Glu824Lys) c.2467G>A (p.Glu823Lys) c.2431G>A (p.Glu811Lys) c.2350G>A (p.Glu784Lys) c.2269G>A (p.Glu757Lys) c.2188G>A (p.Glu730Lys) c.2185G>A (p.Glu729Lys) c.2110G>A (p.Glu704Lys) c.2107G>A (p.Glu703Lys) | |
17 | g.12992909dup | CA2838208272 | ELAC2 | c.2392dup (p.Glu798GlyfsTer?) c.2335dup (p.Glu779GlyfsTer?) c.2272dup (p.Glu758GlyfsTer?) n.2279dup n.2221dup n.3222dup n.1938dup c.1791dup c.2389dup (p.Glu797GlyfsTer?) c.2551dup (p.Glu851GlyfsTer?) c.2473dup (p.Glu825GlyfsTer?) c.2470dup (p.Glu824GlyfsTer?) c.2467dup (p.Glu823GlyfsTer?) c.2431dup (p.Glu811GlyfsTer?) c.2350dup (p.Glu784GlyfsTer?) c.2269dup (p.Glu757GlyfsTer?) c.2188dup (p.Glu730GlyfsTer?) c.2185dup (p.Glu729GlyfsTer?) c.2110dup (p.Glu704GlyfsTer?) c.2107dup (p.Glu703GlyfsTer?) | |
17 | g.12992909del | CA726211321 | ELAC2 | c.2392del (p.Glu798SerfsTer?) c.2335del (p.Glu779SerfsTer?) c.2272del (p.Glu758SerfsTer?) n.2279del n.2221del n.3222del n.1938del c.1791del c.2389del (p.Glu797SerfsTer?) c.2551del (p.Glu851SerfsTer?) c.2473del (p.Glu825SerfsTer?) c.2470del (p.Glu824SerfsTer?) c.2467del (p.Glu823SerfsTer?) c.2431del (p.Glu811SerfsTer?) c.2350del (p.Glu784SerfsTer?) c.2269del (p.Glu757SerfsTer?) c.2188del (p.Glu730SerfsTer?) c.2185del (p.Glu729SerfsTer?) c.2110del (p.Glu704SerfsTer?) c.2107del (p.Glu703SerfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.12992908C>A | CA398222179 | ELAC2 | c.2391G>T (p.Arg797Ser) c.2334G>T (p.Arg778Ser) c.2271G>T (p.Arg757Ser) n.2278G>T n.2220G>T n.3221G>T n.1937G>T c.1790G>T c.2388G>T (p.Arg796Ser) c.2550G>T (p.Arg850Ser) c.2472G>T (p.Arg824Ser) c.2469G>T (p.Arg823Ser) c.2466G>T (p.Arg822Ser) c.2430G>T (p.Arg810Ser) c.2349G>T (p.Arg783Ser) c.2268G>T (p.Arg756Ser) c.2187G>T (p.Arg729Ser) c.2184G>T (p.Arg728Ser) c.2109G>T (p.Arg703Ser) c.2106G>T (p.Arg702Ser) | |
17 | g.12992908C= | CA2248421492 | ELAC2 | c.2391G= (p.Arg797=) c.2334G= (p.Arg778=) c.2271G= (p.Arg757=) n.2278G= n.2220G= n.3221G= n.1937G= c.1790G= c.2388G= (p.Arg796=) c.2550G= (p.Arg850=) c.2472G= (p.Arg824=) c.2469G= (p.Arg823=) c.2466G= (p.Arg822=) c.2430G= (p.Arg810=) c.2349G= (p.Arg783=) c.2268G= (p.Arg756=) c.2187G= (p.Arg729=) c.2184G= (p.Arg728=) c.2109G= (p.Arg703=) c.2106G= (p.Arg702=) | |
17 | g.12992908C>G | CA398222180 | ELAC2 | c.2391G>C (p.Arg797Ser) c.2334G>C (p.Arg778Ser) c.2271G>C (p.Arg757Ser) n.2278G>C n.2220G>C n.3221G>C n.1937G>C c.1790G>C c.2388G>C (p.Arg796Ser) c.2550G>C (p.Arg850Ser) c.2472G>C (p.Arg824Ser) c.2469G>C (p.Arg823Ser) c.2466G>C (p.Arg822Ser) c.2430G>C (p.Arg810Ser) c.2349G>C (p.Arg783Ser) c.2268G>C (p.Arg756Ser) c.2187G>C (p.Arg729Ser) c.2184G>C (p.Arg728Ser) c.2109G>C (p.Arg703Ser) c.2106G>C (p.Arg702Ser) | |
17 | g.12992908C>T | CA498009603 | ELAC2 | c.2391G>A (p.Arg797=) c.2334G>A (p.Arg778=) c.2271G>A (p.Arg757=) n.2278G>A n.2220G>A n.3221G>A n.1937G>A c.1790G>A c.2388G>A (p.Arg796=) c.2550G>A (p.Arg850=) c.2472G>A (p.Arg824=) c.2469G>A (p.Arg823=) c.2466G>A (p.Arg822=) c.2430G>A (p.Arg810=) c.2349G>A (p.Arg783=) c.2268G>A (p.Arg756=) c.2187G>A (p.Arg729=) c.2184G>A (p.Arg728=) c.2109G>A (p.Arg703=) c.2106G>A (p.Arg702=) | dbSNP gnomAD v2 |
17 | g.12992909C>A | CA398222181 | ELAC2 | c.2390G>T (p.Arg797Met) c.2333G>T (p.Arg778Met) c.2270G>T (p.Arg757Met) n.2277G>T n.2219G>T n.3220G>T n.1936G>T c.1789G>T c.2387G>T (p.Arg796Met) c.2549G>T (p.Arg850Met) c.2471G>T (p.Arg824Met) c.2468G>T (p.Arg823Met) c.2465G>T (p.Arg822Met) c.2429G>T (p.Arg810Met) c.2348G>T (p.Arg783Met) c.2267G>T (p.Arg756Met) c.2186G>T (p.Arg729Met) c.2183G>T (p.Arg728Met) c.2108G>T (p.Arg703Met) c.2105G>T (p.Arg702Met) | |
17 | g.12992909C= | CA2248421494 | ELAC2 | c.2390G= (p.Arg797=) c.2333G= (p.Arg778=) c.2270G= (p.Arg757=) n.2277G= n.2219G= n.3220G= n.1936G= c.1789G= c.2387G= (p.Arg796=) c.2549G= (p.Arg850=) c.2471G= (p.Arg824=) c.2468G= (p.Arg823=) c.2465G= (p.Arg822=) c.2429G= (p.Arg810=) c.2348G= (p.Arg783=) c.2267G= (p.Arg756=) c.2186G= (p.Arg729=) c.2183G= (p.Arg728=) c.2108G= (p.Arg703=) c.2105G= (p.Arg702=) | |
17 | g.12992909C>G | CA398222182 | ELAC2 | c.2390G>C (p.Arg797Thr) c.2333G>C (p.Arg778Thr) c.2270G>C (p.Arg757Thr) n.2277G>C n.2219G>C n.3220G>C n.1936G>C c.1789G>C c.2387G>C (p.Arg796Thr) c.2549G>C (p.Arg850Thr) c.2471G>C (p.Arg824Thr) c.2468G>C (p.Arg823Thr) c.2465G>C (p.Arg822Thr) c.2429G>C (p.Arg810Thr) c.2348G>C (p.Arg783Thr) c.2267G>C (p.Arg756Thr) c.2186G>C (p.Arg729Thr) c.2183G>C (p.Arg728Thr) c.2108G>C (p.Arg703Thr) c.2105G>C (p.Arg702Thr) | |
17 | g.12992909C>T | CA288074996 | ELAC2 | c.2390G>A (p.Arg797Lys) c.2333G>A (p.Arg778Lys) c.2270G>A (p.Arg757Lys) n.2277G>A n.2219G>A n.3220G>A n.1936G>A c.1789G>A c.2387G>A (p.Arg796Lys) c.2549G>A (p.Arg850Lys) c.2471G>A (p.Arg824Lys) c.2468G>A (p.Arg823Lys) c.2465G>A (p.Arg822Lys) c.2429G>A (p.Arg810Lys) c.2348G>A (p.Arg783Lys) c.2267G>A (p.Arg756Lys) c.2186G>A (p.Arg729Lys) c.2183G>A (p.Arg728Lys) c.2108G>A (p.Arg703Lys) c.2105G>A (p.Arg702Lys) | ClinVar dbSNP gnomAD v4 |
17 | g.12992910T>A | CA398222183 | ELAC2 | c.2389A>T (p.Arg797Trp) c.2332A>T (p.Arg778Trp) c.2269A>T (p.Arg757Trp) n.2276A>T n.2218A>T n.3219A>T n.1935A>T c.1788A>T c.2386A>T (p.Arg796Trp) c.2548A>T (p.Arg850Trp) c.2470A>T (p.Arg824Trp) c.2467A>T (p.Arg823Trp) c.2464A>T (p.Arg822Trp) c.2428A>T (p.Arg810Trp) c.2347A>T (p.Arg783Trp) c.2266A>T (p.Arg756Trp) c.2185A>T (p.Arg729Trp) c.2182A>T (p.Arg728Trp) c.2107A>T (p.Arg703Trp) c.2104A>T (p.Arg702Trp) | |
17 | g.12992910T>C | CA398222184 | ELAC2 | c.2389A>G (p.Arg797Gly) c.2332A>G (p.Arg778Gly) c.2269A>G (p.Arg757Gly) n.2276A>G n.2218A>G n.3219A>G n.1935A>G c.1788A>G c.2386A>G (p.Arg796Gly) c.2548A>G (p.Arg850Gly) c.2470A>G (p.Arg824Gly) c.2467A>G (p.Arg823Gly) c.2464A>G (p.Arg822Gly) c.2428A>G (p.Arg810Gly) c.2347A>G (p.Arg783Gly) c.2266A>G (p.Arg756Gly) c.2185A>G (p.Arg729Gly) c.2182A>G (p.Arg728Gly) c.2107A>G (p.Arg703Gly) c.2104A>G (p.Arg702Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992910T>G | CA498009604 | ELAC2 | c.2389A>C (p.Arg797=) c.2332A>C (p.Arg778=) c.2269A>C (p.Arg757=) n.2276A>C n.2218A>C n.3219A>C n.1935A>C c.1788A>C c.2386A>C (p.Arg796=) c.2548A>C (p.Arg850=) c.2470A>C (p.Arg824=) c.2467A>C (p.Arg823=) c.2464A>C (p.Arg822=) c.2428A>C (p.Arg810=) c.2347A>C (p.Arg783=) c.2266A>C (p.Arg756=) c.2185A>C (p.Arg729=) c.2182A>C (p.Arg728=) c.2107A>C (p.Arg703=) c.2104A>C (p.Arg702=) | |
17 | g.12992910T= | CA2248421496 | ELAC2 | c.2389A= (p.Arg797=) c.2332A= (p.Arg778=) c.2269A= (p.Arg757=) n.2276A= n.2218A= n.3219A= n.1935A= c.1788A= c.2386A= (p.Arg796=) c.2548A= (p.Arg850=) c.2470A= (p.Arg824=) c.2467A= (p.Arg823=) c.2464A= (p.Arg822=) c.2428A= (p.Arg810=) c.2347A= (p.Arg783=) c.2266A= (p.Arg756=) c.2185A= (p.Arg729=) c.2182A= (p.Arg728=) c.2107A= (p.Arg703=) c.2104A= (p.Arg702=) | |
17 | g.12992911G>A | CA498009605 | ELAC2 | c.2388C>T (p.Ser796=) c.2331C>T (p.Ser777=) c.2268C>T (p.Ser756=) n.2275C>T n.2217C>T n.3218C>T n.1934C>T c.1787C>T c.2385C>T (p.Ser795=) c.2547C>T (p.Ser849=) c.2469C>T (p.Ser823=) c.2466C>T (p.Ser822=) c.2463C>T (p.Ser821=) c.2427C>T (p.Ser809=) c.2346C>T (p.Ser782=) c.2265C>T (p.Ser755=) c.2184C>T (p.Ser728=) c.2181C>T (p.Ser727=) c.2106C>T (p.Ser702=) c.2103C>T (p.Ser701=) | |
17 | g.12992911G>C | CA498009606 | ELAC2 | c.2388C>G (p.Ser796=) c.2331C>G (p.Ser777=) c.2268C>G (p.Ser756=) n.2275C>G n.2217C>G n.3218C>G n.1934C>G c.1787C>G c.2385C>G (p.Ser795=) c.2547C>G (p.Ser849=) c.2469C>G (p.Ser823=) c.2466C>G (p.Ser822=) c.2463C>G (p.Ser821=) c.2427C>G (p.Ser809=) c.2346C>G (p.Ser782=) c.2265C>G (p.Ser755=) c.2184C>G (p.Ser728=) c.2181C>G (p.Ser727=) c.2106C>G (p.Ser702=) c.2103C>G (p.Ser701=) | |
17 | g.12992911G>T | CA498009607 | ELAC2 | c.2388C>A (p.Ser796=) c.2331C>A (p.Ser777=) c.2268C>A (p.Ser756=) n.2275C>A n.2217C>A n.3218C>A n.1934C>A c.1787C>A c.2385C>A (p.Ser795=) c.2547C>A (p.Ser849=) c.2469C>A (p.Ser823=) c.2466C>A (p.Ser822=) c.2463C>A (p.Ser821=) c.2427C>A (p.Ser809=) c.2346C>A (p.Ser782=) c.2265C>A (p.Ser755=) c.2184C>A (p.Ser728=) c.2181C>A (p.Ser727=) c.2106C>A (p.Ser702=) c.2103C>A (p.Ser701=) | gnomAD v4 |
17 | g.12992912G>A | CA398222185 | ELAC2 | c.2387C>T (p.Ser796Phe) c.2330C>T (p.Ser777Phe) c.2267C>T (p.Ser756Phe) n.2274C>T n.2216C>T n.3217C>T n.1933C>T c.1786C>T c.2384C>T (p.Ser795Phe) c.2546C>T (p.Ser849Phe) c.2468C>T (p.Ser823Phe) c.2465C>T (p.Ser822Phe) c.2462C>T (p.Ser821Phe) c.2426C>T (p.Ser809Phe) c.2345C>T (p.Ser782Phe) c.2264C>T (p.Ser755Phe) c.2183C>T (p.Ser728Phe) c.2180C>T (p.Ser727Phe) c.2105C>T (p.Ser702Phe) c.2102C>T (p.Ser701Phe) | |
17 | g.12992912G>C | CA398222186 | ELAC2 | c.2387C>G (p.Ser796Cys) c.2330C>G (p.Ser777Cys) c.2267C>G (p.Ser756Cys) n.2274C>G n.2216C>G n.3217C>G n.1933C>G c.1786C>G c.2384C>G (p.Ser795Cys) c.2546C>G (p.Ser849Cys) c.2468C>G (p.Ser823Cys) c.2465C>G (p.Ser822Cys) c.2462C>G (p.Ser821Cys) c.2426C>G (p.Ser809Cys) c.2345C>G (p.Ser782Cys) c.2264C>G (p.Ser755Cys) c.2183C>G (p.Ser728Cys) c.2180C>G (p.Ser727Cys) c.2105C>G (p.Ser702Cys) c.2102C>G (p.Ser701Cys) | dbSNP |
17 | g.12992912G= | CA2248421501 | ELAC2 | c.2387C= (p.Ser796=) c.2330C= (p.Ser777=) c.2267C= (p.Ser756=) n.2274C= n.2216C= n.3217C= n.1933C= c.1786C= c.2384C= (p.Ser795=) c.2546C= (p.Ser849=) c.2468C= (p.Ser823=) c.2465C= (p.Ser822=) c.2462C= (p.Ser821=) c.2426C= (p.Ser809=) c.2345C= (p.Ser782=) c.2264C= (p.Ser755=) c.2183C= (p.Ser728=) c.2180C= (p.Ser727=) c.2105C= (p.Ser702=) c.2102C= (p.Ser701=) | |
17 | g.12992912G>T | CA398222187 | ELAC2 | c.2387C>A (p.Ser796Tyr) c.2330C>A (p.Ser777Tyr) c.2267C>A (p.Ser756Tyr) n.2274C>A n.2216C>A n.3217C>A n.1933C>A c.1786C>A c.2384C>A (p.Ser795Tyr) c.2546C>A (p.Ser849Tyr) c.2468C>A (p.Ser823Tyr) c.2465C>A (p.Ser822Tyr) c.2462C>A (p.Ser821Tyr) c.2426C>A (p.Ser809Tyr) c.2345C>A (p.Ser782Tyr) c.2264C>A (p.Ser755Tyr) c.2183C>A (p.Ser728Tyr) c.2180C>A (p.Ser727Tyr) c.2105C>A (p.Ser702Tyr) c.2102C>A (p.Ser701Tyr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.12992913A= | CA2248421502 | ELAC2 | c.2386T= (p.Ser796=) c.2329T= (p.Ser777=) c.2266T= (p.Ser756=) n.2273T= n.2215T= n.3216T= n.1932T= c.1785T= c.2383T= (p.Ser795=) c.2545T= (p.Ser849=) c.2467T= (p.Ser823=) c.2464T= (p.Ser822=) c.2461T= (p.Ser821=) c.2425T= (p.Ser809=) c.2344T= (p.Ser782=) c.2263T= (p.Ser755=) c.2182T= (p.Ser728=) c.2179T= (p.Ser727=) c.2104T= (p.Ser702=) c.2101T= (p.Ser701=) | |
17 | g.12992913A>C | CA398222188 | ELAC2 | c.2386T>G (p.Ser796Ala) c.2329T>G (p.Ser777Ala) c.2266T>G (p.Ser756Ala) n.2273T>G n.2215T>G n.3216T>G n.1932T>G c.1785T>G c.2383T>G (p.Ser795Ala) c.2545T>G (p.Ser849Ala) c.2467T>G (p.Ser823Ala) c.2464T>G (p.Ser822Ala) c.2461T>G (p.Ser821Ala) c.2425T>G (p.Ser809Ala) c.2344T>G (p.Ser782Ala) c.2263T>G (p.Ser755Ala) c.2182T>G (p.Ser728Ala) c.2179T>G (p.Ser727Ala) c.2104T>G (p.Ser702Ala) c.2101T>G (p.Ser701Ala) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.12992913A>G | CA398222189 | ELAC2 | c.2386T>C (p.Ser796Pro) c.2329T>C (p.Ser777Pro) c.2266T>C (p.Ser756Pro) n.2273T>C n.2215T>C n.3216T>C n.1932T>C c.1785T>C c.2383T>C (p.Ser795Pro) c.2545T>C (p.Ser849Pro) c.2467T>C (p.Ser823Pro) c.2464T>C (p.Ser822Pro) c.2461T>C (p.Ser821Pro) c.2425T>C (p.Ser809Pro) c.2344T>C (p.Ser782Pro) c.2263T>C (p.Ser755Pro) c.2182T>C (p.Ser728Pro) c.2179T>C (p.Ser727Pro) c.2104T>C (p.Ser702Pro) c.2101T>C (p.Ser701Pro) | |
17 | g.12992913A>T | CA398222190 | ELAC2 | c.2386T>A (p.Ser796Thr) c.2329T>A (p.Ser777Thr) c.2266T>A (p.Ser756Thr) n.2273T>A n.2215T>A n.3216T>A n.1932T>A c.1785T>A c.2383T>A (p.Ser795Thr) c.2545T>A (p.Ser849Thr) c.2467T>A (p.Ser823Thr) c.2464T>A (p.Ser822Thr) c.2461T>A (p.Ser821Thr) c.2425T>A (p.Ser809Thr) c.2344T>A (p.Ser782Thr) c.2263T>A (p.Ser755Thr) c.2182T>A (p.Ser728Thr) c.2179T>A (p.Ser727Thr) c.2104T>A (p.Ser702Thr) c.2101T>A (p.Ser701Thr) | |
17 | g.12992914C>A | CA498009608 | ELAC2 | c.2385G>T (p.Leu795=) c.2328G>T (p.Leu776=) c.2265G>T (p.Leu755=) n.2272G>T n.2214G>T n.3215G>T n.1931G>T c.1784G>T c.2382G>T (p.Leu794=) c.2544G>T (p.Leu848=) c.2466G>T (p.Leu822=) c.2463G>T (p.Leu821=) c.2460G>T (p.Leu820=) c.2424G>T (p.Leu808=) c.2343G>T (p.Leu781=) c.2262G>T (p.Leu754=) c.2181G>T (p.Leu727=) c.2178G>T (p.Leu726=) c.2103G>T (p.Leu701=) c.2100G>T (p.Leu700=) | |
17 | g.12992914C>G | CA498009609 | ELAC2 | c.2385G>C (p.Leu795=) c.2328G>C (p.Leu776=) c.2265G>C (p.Leu755=) n.2272G>C n.2214G>C n.3215G>C n.1931G>C c.1784G>C c.2382G>C (p.Leu794=) c.2544G>C (p.Leu848=) c.2466G>C (p.Leu822=) c.2463G>C (p.Leu821=) c.2460G>C (p.Leu820=) c.2424G>C (p.Leu808=) c.2343G>C (p.Leu781=) c.2262G>C (p.Leu754=) c.2181G>C (p.Leu727=) c.2178G>C (p.Leu726=) c.2103G>C (p.Leu701=) c.2100G>C (p.Leu700=) | |
17 | g.12992914C>T | CA498009610 | ELAC2 | c.2385G>A (p.Leu795=) c.2328G>A (p.Leu776=) c.2265G>A (p.Leu755=) n.2272G>A n.2214G>A n.3215G>A n.1931G>A c.1784G>A c.2382G>A (p.Leu794=) c.2544G>A (p.Leu848=) c.2466G>A (p.Leu822=) c.2463G>A (p.Leu821=) c.2460G>A (p.Leu820=) c.2424G>A (p.Leu808=) c.2343G>A (p.Leu781=) c.2262G>A (p.Leu754=) c.2181G>A (p.Leu727=) c.2178G>A (p.Leu726=) c.2103G>A (p.Leu701=) c.2100G>A (p.Leu700=) | gnomAD v4 |
17 | g.12992915A= | CA2248421505 | ELAC2 | c.2384T= (p.Leu795=) c.2327T= (p.Leu776=) c.2264T= (p.Leu755=) n.2271T= n.2213T= n.3214T= n.1930T= c.1783T= c.2381T= (p.Leu794=) c.2543T= (p.Leu848=) c.2465T= (p.Leu822=) c.2462T= (p.Leu821=) c.2459T= (p.Leu820=) c.2423T= (p.Leu808=) c.2342T= (p.Leu781=) c.2261T= (p.Leu754=) c.2180T= (p.Leu727=) c.2177T= (p.Leu726=) c.2102T= (p.Leu701=) c.2099T= (p.Leu700=) | |
17 | g.12992915A>C | CA398222191 | ELAC2 | c.2384T>G (p.Leu795Arg) c.2327T>G (p.Leu776Arg) c.2264T>G (p.Leu755Arg) n.2271T>G n.2213T>G n.3214T>G n.1930T>G c.1783T>G c.2381T>G (p.Leu794Arg) c.2543T>G (p.Leu848Arg) c.2465T>G (p.Leu822Arg) c.2462T>G (p.Leu821Arg) c.2459T>G (p.Leu820Arg) c.2423T>G (p.Leu808Arg) c.2342T>G (p.Leu781Arg) c.2261T>G (p.Leu754Arg) c.2180T>G (p.Leu727Arg) c.2177T>G (p.Leu726Arg) c.2102T>G (p.Leu701Arg) c.2099T>G (p.Leu700Arg) | |
17 | g.12992915A>G | CA288075003 | ELAC2 | c.2384T>C (p.Leu795Pro) c.2327T>C (p.Leu776Pro) c.2264T>C (p.Leu755Pro) n.2271T>C n.2213T>C n.3214T>C n.1930T>C c.1783T>C c.2381T>C (p.Leu794Pro) c.2543T>C (p.Leu848Pro) c.2465T>C (p.Leu822Pro) c.2462T>C (p.Leu821Pro) c.2459T>C (p.Leu820Pro) c.2423T>C (p.Leu808Pro) c.2342T>C (p.Leu781Pro) c.2261T>C (p.Leu754Pro) c.2180T>C (p.Leu727Pro) c.2177T>C (p.Leu726Pro) c.2102T>C (p.Leu701Pro) c.2099T>C (p.Leu700Pro) | ClinVar dbSNP gnomAD v4 |
17 | g.12992915A>T | CA398222192 | ELAC2 | c.2384T>A (p.Leu795Gln) c.2327T>A (p.Leu776Gln) c.2264T>A (p.Leu755Gln) n.2271T>A n.2213T>A n.3214T>A n.1930T>A c.1783T>A c.2381T>A (p.Leu794Gln) c.2543T>A (p.Leu848Gln) c.2465T>A (p.Leu822Gln) c.2462T>A (p.Leu821Gln) c.2459T>A (p.Leu820Gln) c.2423T>A (p.Leu808Gln) c.2342T>A (p.Leu781Gln) c.2261T>A (p.Leu754Gln) c.2180T>A (p.Leu727Gln) c.2177T>A (p.Leu726Gln) c.2102T>A (p.Leu701Gln) c.2099T>A (p.Leu700Gln) | |
17 | g.12992916G>A | CA498009611 | ELAC2 | c.2383C>T (p.Leu795=) c.2326C>T (p.Leu776=) c.2263C>T (p.Leu755=) n.2270C>T n.2212C>T n.3213C>T n.1929C>T c.1782C>T c.2380C>T (p.Leu794=) c.2542C>T (p.Leu848=) c.2464C>T (p.Leu822=) c.2461C>T (p.Leu821=) c.2458C>T (p.Leu820=) c.2422C>T (p.Leu808=) c.2341C>T (p.Leu781=) c.2260C>T (p.Leu754=) c.2179C>T (p.Leu727=) c.2176C>T (p.Leu726=) c.2101C>T (p.Leu701=) c.2098C>T (p.Leu700=) | |
17 | g.12992916G>C | CA398222193 | ELAC2 | c.2383C>G (p.Leu795Val) c.2326C>G (p.Leu776Val) c.2263C>G (p.Leu755Val) n.2270C>G n.2212C>G n.3213C>G n.1929C>G c.1782C>G c.2380C>G (p.Leu794Val) c.2542C>G (p.Leu848Val) c.2464C>G (p.Leu822Val) c.2461C>G (p.Leu821Val) c.2458C>G (p.Leu820Val) c.2422C>G (p.Leu808Val) c.2341C>G (p.Leu781Val) c.2260C>G (p.Leu754Val) c.2179C>G (p.Leu727Val) c.2176C>G (p.Leu726Val) c.2101C>G (p.Leu701Val) c.2098C>G (p.Leu700Val) | |
17 | g.12992916G>T | CA398222194 | ELAC2 | c.2383C>A (p.Leu795Met) c.2326C>A (p.Leu776Met) c.2263C>A (p.Leu755Met) n.2270C>A n.2212C>A n.3213C>A n.1929C>A c.1782C>A c.2380C>A (p.Leu794Met) c.2542C>A (p.Leu848Met) c.2464C>A (p.Leu822Met) c.2461C>A (p.Leu821Met) c.2458C>A (p.Leu820Met) c.2422C>A (p.Leu808Met) c.2341C>A (p.Leu781Met) c.2260C>A (p.Leu754Met) c.2179C>A (p.Leu727Met) c.2176C>A (p.Leu726Met) c.2101C>A (p.Leu701Met) c.2098C>A (p.Leu700Met) | |
17 | g.12992917G>A | CA498009612 | ELAC2 | c.2382C>T (p.Leu794=) c.2325C>T (p.Leu775=) c.2262C>T (p.Leu754=) n.2269C>T n.2211C>T n.3212C>T n.1928C>T c.1781C>T c.2379C>T (p.Leu793=) c.2541C>T (p.Leu847=) c.2463C>T (p.Leu821=) c.2460C>T (p.Leu820=) c.2457C>T (p.Leu819=) c.2421C>T (p.Leu807=) c.2340C>T (p.Leu780=) c.2259C>T (p.Leu753=) c.2178C>T (p.Leu726=) c.2175C>T (p.Leu725=) c.2100C>T (p.Leu700=) c.2097C>T (p.Leu699=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.12992917G>C | CA498009613 | ELAC2 | c.2382C>G (p.Leu794=) c.2325C>G (p.Leu775=) c.2262C>G (p.Leu754=) n.2269C>G n.2211C>G n.3212C>G n.1928C>G c.1781C>G c.2379C>G (p.Leu793=) c.2541C>G (p.Leu847=) c.2463C>G (p.Leu821=) c.2460C>G (p.Leu820=) c.2457C>G (p.Leu819=) c.2421C>G (p.Leu807=) c.2340C>G (p.Leu780=) c.2259C>G (p.Leu753=) c.2178C>G (p.Leu726=) c.2175C>G (p.Leu725=) c.2100C>G (p.Leu700=) c.2097C>G (p.Leu699=) | |
17 | g.12992917G= | CA2248421509 | ELAC2 | c.2382C= (p.Leu794=) c.2325C= (p.Leu775=) c.2262C= (p.Leu754=) n.2269C= n.2211C= n.3212C= n.1928C= c.1781C= c.2379C= (p.Leu793=) c.2541C= (p.Leu847=) c.2463C= (p.Leu821=) c.2460C= (p.Leu820=) c.2457C= (p.Leu819=) c.2421C= (p.Leu807=) c.2340C= (p.Leu780=) c.2259C= (p.Leu753=) c.2178C= (p.Leu726=) c.2175C= (p.Leu725=) c.2100C= (p.Leu700=) c.2097C= (p.Leu699=) | |
17 | g.12992917G>T | CA498009614 | ELAC2 | c.2382C>A (p.Leu794=) c.2325C>A (p.Leu775=) c.2262C>A (p.Leu754=) n.2269C>A n.2211C>A n.3212C>A n.1928C>A c.1781C>A c.2379C>A (p.Leu793=) c.2541C>A (p.Leu847=) c.2463C>A (p.Leu821=) c.2460C>A (p.Leu820=) c.2457C>A (p.Leu819=) c.2421C>A (p.Leu807=) c.2340C>A (p.Leu780=) c.2259C>A (p.Leu753=) c.2178C>A (p.Leu726=) c.2175C>A (p.Leu725=) c.2100C>A (p.Leu700=) c.2097C>A (p.Leu699=) | gnomAD v4 |
17 | g.12992918A>C | CA398222195 | ELAC2 | c.2381T>G (p.Leu794Arg) c.2324T>G (p.Leu775Arg) c.2261T>G (p.Leu754Arg) n.2268T>G n.2210T>G n.3211T>G n.1927T>G c.1780T>G c.2378T>G (p.Leu793Arg) c.2540T>G (p.Leu847Arg) c.2462T>G (p.Leu821Arg) c.2459T>G (p.Leu820Arg) c.2456T>G (p.Leu819Arg) c.2420T>G (p.Leu807Arg) c.2339T>G (p.Leu780Arg) c.2258T>G (p.Leu753Arg) c.2177T>G (p.Leu726Arg) c.2174T>G (p.Leu725Arg) c.2099T>G (p.Leu700Arg) c.2096T>G (p.Leu699Arg) | |
17 | g.12992918A>G | CA398222196 | ELAC2 | c.2381T>C (p.Leu794Pro) c.2324T>C (p.Leu775Pro) c.2261T>C (p.Leu754Pro) n.2268T>C n.2210T>C n.3211T>C n.1927T>C c.1780T>C c.2378T>C (p.Leu793Pro) c.2540T>C (p.Leu847Pro) c.2462T>C (p.Leu821Pro) c.2459T>C (p.Leu820Pro) c.2456T>C (p.Leu819Pro) c.2420T>C (p.Leu807Pro) c.2339T>C (p.Leu780Pro) c.2258T>C (p.Leu753Pro) c.2177T>C (p.Leu726Pro) c.2174T>C (p.Leu725Pro) c.2099T>C (p.Leu700Pro) c.2096T>C (p.Leu699Pro) | |
17 | g.12992918A>T | CA398222197 | ELAC2 | c.2381T>A (p.Leu794His) c.2324T>A (p.Leu775His) c.2261T>A (p.Leu754His) n.2268T>A n.2210T>A n.3211T>A n.1927T>A c.1780T>A c.2378T>A (p.Leu793His) c.2540T>A (p.Leu847His) c.2462T>A (p.Leu821His) c.2459T>A (p.Leu820His) c.2456T>A (p.Leu819His) c.2420T>A (p.Leu807His) c.2339T>A (p.Leu780His) c.2258T>A (p.Leu753His) c.2177T>A (p.Leu726His) c.2174T>A (p.Leu725His) c.2099T>A (p.Leu700His) c.2096T>A (p.Leu699His) | |
17 | g.12992919G>A | CA398222198 | ELAC2 | c.2380C>T (p.Leu794Phe) c.2323C>T (p.Leu775Phe) c.2260C>T (p.Leu754Phe) n.2267C>T n.2209C>T n.3210C>T n.1926C>T c.1779C>T c.2377C>T (p.Leu793Phe) c.2539C>T (p.Leu847Phe) c.2461C>T (p.Leu821Phe) c.2458C>T (p.Leu820Phe) c.2455C>T (p.Leu819Phe) c.2419C>T (p.Leu807Phe) c.2338C>T (p.Leu780Phe) c.2257C>T (p.Leu753Phe) c.2176C>T (p.Leu726Phe) c.2173C>T (p.Leu725Phe) c.2098C>T (p.Leu700Phe) c.2095C>T (p.Leu699Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.12992919G>C | CA398222199 | ELAC2 | c.2380C>G (p.Leu794Val) c.2323C>G (p.Leu775Val) c.2260C>G (p.Leu754Val) n.2267C>G n.2209C>G n.3210C>G n.1926C>G c.1779C>G c.2377C>G (p.Leu793Val) c.2539C>G (p.Leu847Val) c.2461C>G (p.Leu821Val) c.2458C>G (p.Leu820Val) c.2455C>G (p.Leu819Val) c.2419C>G (p.Leu807Val) c.2338C>G (p.Leu780Val) c.2257C>G (p.Leu753Val) c.2176C>G (p.Leu726Val) c.2173C>G (p.Leu725Val) c.2098C>G (p.Leu700Val) c.2095C>G (p.Leu699Val) | |
17 | g.12992919G= | CA2248421512 | ELAC2 | c.2380C= (p.Leu794=) c.2323C= (p.Leu775=) c.2260C= (p.Leu754=) n.2267C= n.2209C= n.3210C= n.1926C= c.1779C= c.2377C= (p.Leu793=) c.2539C= (p.Leu847=) c.2461C= (p.Leu821=) c.2458C= (p.Leu820=) c.2455C= (p.Leu819=) c.2419C= (p.Leu807=) c.2338C= (p.Leu780=) c.2257C= (p.Leu753=) c.2176C= (p.Leu726=) c.2173C= (p.Leu725=) c.2098C= (p.Leu700=) c.2095C= (p.Leu699=) | |
17 | g.12992919G>T | CA398222200 | ELAC2 | c.2380C>A (p.Leu794Ile) c.2323C>A (p.Leu775Ile) c.2260C>A (p.Leu754Ile) n.2267C>A n.2209C>A n.3210C>A n.1926C>A c.1779C>A c.2377C>A (p.Leu793Ile) c.2539C>A (p.Leu847Ile) c.2461C>A (p.Leu821Ile) c.2458C>A (p.Leu820Ile) c.2455C>A (p.Leu819Ile) c.2419C>A (p.Leu807Ile) c.2338C>A (p.Leu780Ile) c.2257C>A (p.Leu753Ile) c.2176C>A (p.Leu726Ile) c.2173C>A (p.Leu725Ile) c.2098C>A (p.Leu700Ile) c.2095C>A (p.Leu699Ile) | dbSNP gnomAD v4 COSMIC |
17 | g.12992921del | CA2840256617 | ELAC2 | c.2380del (p.Leu794SerfsTer?) c.2323del (p.Leu775SerfsTer?) c.2260del (p.Leu754SerfsTer?) n.2267del n.2209del n.3210del n.1926del c.1779del c.2377del (p.Leu793SerfsTer?) c.2539del (p.Leu847SerfsTer?) c.2461del (p.Leu821SerfsTer?) c.2458del (p.Leu820SerfsTer?) c.2455del (p.Leu819SerfsTer?) c.2419del (p.Leu807SerfsTer?) c.2338del (p.Leu780SerfsTer?) c.2257del (p.Leu753SerfsTer?) c.2176del (p.Leu726SerfsTer?) c.2173del (p.Leu725SerfsTer?) c.2098del (p.Leu700SerfsTer?) c.2095del (p.Leu699SerfsTer?) | |
17 | g.12992919_12992924del | CA2573153041 | ELAC2 | c.2375_2380del (p.Ala792_Leu794delinsVal) c.2318_2323del (p.Ala773_Leu775delinsVal) c.2255_2260del (p.Ala752_Leu754delinsVal) n.2262_2267del n.2204_2209del n.3205_3210del n.1921_1926del c.1774_1779del c.2372_2377del (p.Ala791_Leu793delinsVal) c.2534_2539del (p.Ala845_Leu847delinsVal) c.2456_2461del (p.Ala819_Leu821delinsVal) c.2453_2458del (p.Ala818_Leu820delinsVal) c.2450_2455del (p.Ala817_Leu819delinsVal) c.2414_2419del (p.Ala805_Leu807delinsVal) c.2333_2338del (p.Ala778_Leu780delinsVal) c.2252_2257del (p.Ala751_Leu753delinsVal) c.2171_2176del (p.Ala724_Leu726delinsVal) c.2168_2173del (p.Ala723_Leu725delinsVal) c.2093_2098del (p.Ala698_Leu700delinsVal) c.2090_2095del (p.Ala697_Leu699delinsVal) | ClinVar dbSNP |
17 | g.12992920G>A | CA498009617 | ELAC2 | c.2379C>T (p.Ala793=) c.2322C>T (p.Ala774=) c.2259C>T (p.Ala753=) n.2266C>T n.2208C>T n.3209C>T n.1925C>T c.1778C>T c.2376C>T (p.Ala792=) c.2538C>T (p.Ala846=) c.2460C>T (p.Ala820=) c.2457C>T (p.Ala819=) c.2454C>T (p.Ala818=) c.2418C>T (p.Ala806=) c.2337C>T (p.Ala779=) c.2256C>T (p.Ala752=) c.2175C>T (p.Ala725=) c.2172C>T (p.Ala724=) c.2097C>T (p.Ala699=) c.2094C>T (p.Ala698=) | |
17 | g.12992920G>C | CA498009615 | ELAC2 | c.2379C>G (p.Ala793=) c.2322C>G (p.Ala774=) c.2259C>G (p.Ala753=) n.2266C>G n.2208C>G n.3209C>G n.1925C>G c.1778C>G c.2376C>G (p.Ala792=) c.2538C>G (p.Ala846=) c.2460C>G (p.Ala820=) c.2457C>G (p.Ala819=) c.2454C>G (p.Ala818=) c.2418C>G (p.Ala806=) c.2337C>G (p.Ala779=) c.2256C>G (p.Ala752=) c.2175C>G (p.Ala725=) c.2172C>G (p.Ala724=) c.2097C>G (p.Ala699=) c.2094C>G (p.Ala698=) | ClinVar |
17 | g.12992920G>T | CA498009616 | ELAC2 | c.2379C>A (p.Ala793=) c.2322C>A (p.Ala774=) c.2259C>A (p.Ala753=) n.2266C>A n.2208C>A n.3209C>A n.1925C>A c.1778C>A c.2376C>A (p.Ala792=) c.2538C>A (p.Ala846=) c.2460C>A (p.Ala820=) c.2457C>A (p.Ala819=) c.2454C>A (p.Ala818=) c.2418C>A (p.Ala806=) c.2337C>A (p.Ala779=) c.2256C>A (p.Ala752=) c.2175C>A (p.Ala725=) c.2172C>A (p.Ala724=) c.2097C>A (p.Ala699=) c.2094C>A (p.Ala698=) | |
17 | g.12992921G>A | CA8400811 | ELAC2 | c.2378C>T (p.Ala793Val) c.2321C>T (p.Ala774Val) c.2258C>T (p.Ala753Val) n.2265C>T n.2207C>T n.3208C>T n.1924C>T c.1777C>T c.2375C>T (p.Ala792Val) c.2537C>T (p.Ala846Val) c.2459C>T (p.Ala820Val) c.2456C>T (p.Ala819Val) c.2453C>T (p.Ala818Val) c.2417C>T (p.Ala806Val) c.2336C>T (p.Ala779Val) c.2255C>T (p.Ala752Val) c.2174C>T (p.Ala725Val) c.2171C>T (p.Ala724Val) c.2096C>T (p.Ala699Val) c.2093C>T (p.Ala698Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.12992921G>C | CA398222201 | ELAC2 | c.2378C>G (p.Ala793Gly) c.2321C>G (p.Ala774Gly) c.2258C>G (p.Ala753Gly) n.2265C>G n.2207C>G n.3208C>G n.1924C>G c.1777C>G c.2375C>G (p.Ala792Gly) c.2537C>G (p.Ala846Gly) c.2459C>G (p.Ala820Gly) c.2456C>G (p.Ala819Gly) c.2453C>G (p.Ala818Gly) c.2417C>G (p.Ala806Gly) c.2336C>G (p.Ala779Gly) c.2255C>G (p.Ala752Gly) c.2174C>G (p.Ala725Gly) c.2171C>G (p.Ala724Gly) c.2096C>G (p.Ala699Gly) c.2093C>G (p.Ala698Gly) | dbSNP |
17 | g.12992921G= | CA2248421516 | ELAC2 | c.2378C= (p.Ala793=) c.2321C= (p.Ala774=) c.2258C= (p.Ala753=) n.2265C= n.2207C= n.3208C= n.1924C= c.1777C= c.2375C= (p.Ala792=) c.2537C= (p.Ala846=) c.2459C= (p.Ala820=) c.2456C= (p.Ala819=) c.2453C= (p.Ala818=) c.2417C= (p.Ala806=) c.2336C= (p.Ala779=) c.2255C= (p.Ala752=) c.2174C= (p.Ala725=) c.2171C= (p.Ala724=) c.2096C= (p.Ala699=) c.2093C= (p.Ala698=) | |
17 | g.12992921G>T | CA398222202 | ELAC2 | c.2378C>A (p.Ala793Asp) c.2321C>A (p.Ala774Asp) c.2258C>A (p.Ala753Asp) n.2265C>A n.2207C>A n.3208C>A n.1924C>A c.1777C>A c.2375C>A (p.Ala792Asp) c.2537C>A (p.Ala846Asp) c.2459C>A (p.Ala820Asp) c.2456C>A (p.Ala819Asp) c.2453C>A (p.Ala818Asp) c.2417C>A (p.Ala806Asp) c.2336C>A (p.Ala779Asp) c.2255C>A (p.Ala752Asp) c.2174C>A (p.Ala725Asp) c.2171C>A (p.Ala724Asp) c.2096C>A (p.Ala699Asp) c.2093C>A (p.Ala698Asp) | gnomAD v4 |
17 | g.12992922C>A | CA398222203 | ELAC2 | c.2377G>T (p.Ala793Ser) c.2320G>T (p.Ala774Ser) c.2257G>T (p.Ala753Ser) n.2264G>T n.2206G>T n.3207G>T n.1923G>T c.1776G>T c.2374G>T (p.Ala792Ser) c.2536G>T (p.Ala846Ser) c.2458G>T (p.Ala820Ser) c.2455G>T (p.Ala819Ser) c.2452G>T (p.Ala818Ser) c.2416G>T (p.Ala806Ser) c.2335G>T (p.Ala779Ser) c.2254G>T (p.Ala752Ser) c.2173G>T (p.Ala725Ser) c.2170G>T (p.Ala724Ser) c.2095G>T (p.Ala699Ser) c.2092G>T (p.Ala698Ser) | |
17 | g.12992922C>G | CA398222204 | ELAC2 | c.2377G>C (p.Ala793Pro) c.2320G>C (p.Ala774Pro) c.2257G>C (p.Ala753Pro) n.2264G>C n.2206G>C n.3207G>C n.1923G>C c.1776G>C c.2374G>C (p.Ala792Pro) c.2536G>C (p.Ala846Pro) c.2458G>C (p.Ala820Pro) c.2455G>C (p.Ala819Pro) c.2452G>C (p.Ala818Pro) c.2416G>C (p.Ala806Pro) c.2335G>C (p.Ala779Pro) c.2254G>C (p.Ala752Pro) c.2173G>C (p.Ala725Pro) c.2170G>C (p.Ala724Pro) c.2095G>C (p.Ala699Pro) c.2092G>C (p.Ala698Pro) | |
17 | g.12992922C>T | CA398222205 | ELAC2 | c.2377G>A (p.Ala793Thr) c.2320G>A (p.Ala774Thr) c.2257G>A (p.Ala753Thr) n.2264G>A n.2206G>A n.3207G>A n.1923G>A c.1776G>A c.2374G>A (p.Ala792Thr) c.2536G>A (p.Ala846Thr) c.2458G>A (p.Ala820Thr) c.2455G>A (p.Ala819Thr) c.2452G>A (p.Ala818Thr) c.2416G>A (p.Ala806Thr) c.2335G>A (p.Ala779Thr) c.2254G>A (p.Ala752Thr) c.2173G>A (p.Ala725Thr) c.2170G>A (p.Ala724Thr) c.2095G>A (p.Ala699Thr) c.2092G>A (p.Ala698Thr) | |
17 | g.12992923C>A | CA498009618 | ELAC2 | c.2376G>T (p.Ala792=) c.2319G>T (p.Ala773=) c.2256G>T (p.Ala752=) n.2263G>T n.2205G>T n.3206G>T n.1922G>T c.1775G>T c.2373G>T (p.Ala791=) c.2535G>T (p.Ala845=) c.2457G>T (p.Ala819=) c.2454G>T (p.Ala818=) c.2451G>T (p.Ala817=) c.2415G>T (p.Ala805=) c.2334G>T (p.Ala778=) c.2253G>T (p.Ala751=) c.2172G>T (p.Ala724=) c.2169G>T (p.Ala723=) c.2094G>T (p.Ala698=) c.2091G>T (p.Ala697=) | |
17 | g.12992923C= | CA2248421521 | ELAC2 | c.2376G= (p.Ala792=) c.2319G= (p.Ala773=) c.2256G= (p.Ala752=) n.2263G= n.2205G= n.3206G= n.1922G= c.1775G= c.2373G= (p.Ala791=) c.2535G= (p.Ala845=) c.2457G= (p.Ala819=) c.2454G= (p.Ala818=) c.2451G= (p.Ala817=) c.2415G= (p.Ala805=) c.2334G= (p.Ala778=) c.2253G= (p.Ala751=) c.2172G= (p.Ala724=) c.2169G= (p.Ala723=) c.2094G= (p.Ala698=) c.2091G= (p.Ala697=) | |
17 | g.12992923C>G | CA498009619 | ELAC2 | c.2376G>C (p.Ala792=) c.2319G>C (p.Ala773=) c.2256G>C (p.Ala752=) n.2263G>C n.2205G>C n.3206G>C n.1922G>C c.1775G>C c.2373G>C (p.Ala791=) c.2535G>C (p.Ala845=) c.2457G>C (p.Ala819=) c.2454G>C (p.Ala818=) c.2451G>C (p.Ala817=) c.2415G>C (p.Ala805=) c.2334G>C (p.Ala778=) c.2253G>C (p.Ala751=) c.2172G>C (p.Ala724=) c.2169G>C (p.Ala723=) c.2094G>C (p.Ala698=) c.2091G>C (p.Ala697=) | |
17 | g.12992923C>T | CA350650 | ELAC2 | c.2376G>A (p.Ala792=) c.2319G>A (p.Ala773=) c.2256G>A (p.Ala752=) n.2263G>A n.2205G>A n.3206G>A n.1922G>A c.1775G>A c.2373G>A (p.Ala791=) c.2535G>A (p.Ala845=) c.2457G>A (p.Ala819=) c.2454G>A (p.Ala818=) c.2451G>A (p.Ala817=) c.2415G>A (p.Ala805=) c.2334G>A (p.Ala778=) c.2253G>A (p.Ala751=) c.2172G>A (p.Ala724=) c.2169G>A (p.Ala723=) c.2094G>A (p.Ala698=) c.2091G>A (p.Ala697=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992924G>A | CA8400812 | ELAC2 | c.2375C>T (p.Ala792Val) c.2318C>T (p.Ala773Val) c.2255C>T (p.Ala752Val) n.2262C>T n.2204C>T n.3205C>T n.1921C>T c.1774C>T c.2372C>T (p.Ala791Val) c.2534C>T (p.Ala845Val) c.2456C>T (p.Ala819Val) c.2453C>T (p.Ala818Val) c.2450C>T (p.Ala817Val) c.2414C>T (p.Ala805Val) c.2333C>T (p.Ala778Val) c.2252C>T (p.Ala751Val) c.2171C>T (p.Ala724Val) c.2168C>T (p.Ala723Val) c.2093C>T (p.Ala698Val) c.2090C>T (p.Ala697Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992924G>C | CA8400813 | ELAC2 | c.2375C>G (p.Ala792Gly) c.2318C>G (p.Ala773Gly) c.2255C>G (p.Ala752Gly) n.2262C>G n.2204C>G n.3205C>G n.1921C>G c.1774C>G c.2372C>G (p.Ala791Gly) c.2534C>G (p.Ala845Gly) c.2456C>G (p.Ala819Gly) c.2453C>G (p.Ala818Gly) c.2450C>G (p.Ala817Gly) c.2414C>G (p.Ala805Gly) c.2333C>G (p.Ala778Gly) c.2252C>G (p.Ala751Gly) c.2171C>G (p.Ala724Gly) c.2168C>G (p.Ala723Gly) c.2093C>G (p.Ala698Gly) c.2090C>G (p.Ala697Gly) | dbSNP ExAC |
17 | g.12992924G= | CA2248421528 | ELAC2 | c.2375C= (p.Ala792=) c.2318C= (p.Ala773=) c.2255C= (p.Ala752=) n.2262C= n.2204C= n.3205C= n.1921C= c.1774C= c.2372C= (p.Ala791=) c.2534C= (p.Ala845=) c.2456C= (p.Ala819=) c.2453C= (p.Ala818=) c.2450C= (p.Ala817=) c.2414C= (p.Ala805=) c.2333C= (p.Ala778=) c.2252C= (p.Ala751=) c.2171C= (p.Ala724=) c.2168C= (p.Ala723=) c.2093C= (p.Ala698=) c.2090C= (p.Ala697=) | |
17 | g.12992924G>T | CA398222206 | ELAC2 | c.2375C>A (p.Ala792Glu) c.2318C>A (p.Ala773Glu) c.2255C>A (p.Ala752Glu) n.2262C>A n.2204C>A n.3205C>A n.1921C>A c.1774C>A c.2372C>A (p.Ala791Glu) c.2534C>A (p.Ala845Glu) c.2456C>A (p.Ala819Glu) c.2453C>A (p.Ala818Glu) c.2450C>A (p.Ala817Glu) c.2414C>A (p.Ala805Glu) c.2333C>A (p.Ala778Glu) c.2252C>A (p.Ala751Glu) c.2171C>A (p.Ala724Glu) c.2168C>A (p.Ala723Glu) c.2093C>A (p.Ala698Glu) c.2090C>A (p.Ala697Glu) | gnomAD v4 |
17 | g.12992925C>A | CA398222207 | ELAC2 | c.2374G>T (p.Ala792Ser) c.2317G>T (p.Ala773Ser) c.2254G>T (p.Ala752Ser) n.2261G>T n.2203G>T n.3204G>T n.1920G>T c.1773G>T c.2371G>T (p.Ala791Ser) c.2533G>T (p.Ala845Ser) c.2455G>T (p.Ala819Ser) c.2452G>T (p.Ala818Ser) c.2449G>T (p.Ala817Ser) c.2413G>T (p.Ala805Ser) c.2332G>T (p.Ala778Ser) c.2251G>T (p.Ala751Ser) c.2170G>T (p.Ala724Ser) c.2167G>T (p.Ala723Ser) c.2092G>T (p.Ala698Ser) c.2089G>T (p.Ala697Ser) | |
17 | g.12992925C= | CA2248421538 | ELAC2 | c.2374G= (p.Ala792=) c.2317G= (p.Ala773=) c.2254G= (p.Ala752=) n.2261G= n.2203G= n.3204G= n.1920G= c.1773G= c.2371G= (p.Ala791=) c.2533G= (p.Ala845=) c.2455G= (p.Ala819=) c.2452G= (p.Ala818=) c.2449G= (p.Ala817=) c.2413G= (p.Ala805=) c.2332G= (p.Ala778=) c.2251G= (p.Ala751=) c.2170G= (p.Ala724=) c.2167G= (p.Ala723=) c.2092G= (p.Ala698=) c.2089G= (p.Ala697=) | |
17 | g.12992925C>G | CA398222208 | ELAC2 | c.2374G>C (p.Ala792Pro) c.2317G>C (p.Ala773Pro) c.2254G>C (p.Ala752Pro) n.2261G>C n.2203G>C n.3204G>C n.1920G>C c.1773G>C c.2371G>C (p.Ala791Pro) c.2533G>C (p.Ala845Pro) c.2455G>C (p.Ala819Pro) c.2452G>C (p.Ala818Pro) c.2449G>C (p.Ala817Pro) c.2413G>C (p.Ala805Pro) c.2332G>C (p.Ala778Pro) c.2251G>C (p.Ala751Pro) c.2170G>C (p.Ala724Pro) c.2167G>C (p.Ala723Pro) c.2092G>C (p.Ala698Pro) c.2089G>C (p.Ala697Pro) | |
17 | g.12992925C>T | CA398222209 | ELAC2 | c.2374G>A (p.Ala792Thr) c.2317G>A (p.Ala773Thr) c.2254G>A (p.Ala752Thr) n.2261G>A n.2203G>A n.3204G>A n.1920G>A c.1773G>A c.2371G>A (p.Ala791Thr) c.2533G>A (p.Ala845Thr) c.2455G>A (p.Ala819Thr) c.2452G>A (p.Ala818Thr) c.2449G>A (p.Ala817Thr) c.2413G>A (p.Ala805Thr) c.2332G>A (p.Ala778Thr) c.2251G>A (p.Ala751Thr) c.2170G>A (p.Ala724Thr) c.2167G>A (p.Ala723Thr) c.2092G>A (p.Ala698Thr) c.2089G>A (p.Ala697Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.12992927del | CA2636193266 | ELAC2 | c.2374del (p.Ala792ArgfsTer?) c.2317del (p.Ala773ArgfsTer?) c.2254del (p.Ala752ArgfsTer?) n.2261del n.2203del n.3204del n.1920del c.1773del c.2371del (p.Ala791ArgfsTer?) c.2533del (p.Ala845ArgfsTer?) c.2455del (p.Ala819ArgfsTer?) c.2452del (p.Ala818ArgfsTer?) c.2449del (p.Ala817ArgfsTer?) c.2413del (p.Ala805ArgfsTer?) c.2332del (p.Ala778ArgfsTer?) c.2251del (p.Ala751ArgfsTer?) c.2170del (p.Ala724ArgfsTer?) c.2167del (p.Ala723ArgfsTer?) c.2092del (p.Ala698ArgfsTer?) c.2089del (p.Ala697ArgfsTer?) | gnomAD v4 |
17 | g.12992926C>A | CA498009620 | ELAC2 | c.2373G>T (p.Arg791=) c.2316G>T (p.Arg772=) c.2253G>T (p.Arg751=) n.2260G>T n.2202G>T n.3203G>T n.1919G>T c.1772G>T c.2370G>T (p.Arg790=) c.2532G>T (p.Arg844=) c.2454G>T (p.Arg818=) c.2451G>T (p.Arg817=) c.2448G>T (p.Arg816=) c.2412G>T (p.Arg804=) c.2331G>T (p.Arg777=) c.2250G>T (p.Arg750=) c.2169G>T (p.Arg723=) c.2166G>T (p.Arg722=) c.2091G>T (p.Arg697=) c.2088G>T (p.Arg696=) | |
17 | g.12992926C>G | CA498009621 | ELAC2 | c.2373G>C (p.Arg791=) c.2316G>C (p.Arg772=) c.2253G>C (p.Arg751=) n.2260G>C n.2202G>C n.3203G>C n.1919G>C c.1772G>C c.2370G>C (p.Arg790=) c.2532G>C (p.Arg844=) c.2454G>C (p.Arg818=) c.2451G>C (p.Arg817=) c.2448G>C (p.Arg816=) c.2412G>C (p.Arg804=) c.2331G>C (p.Arg777=) c.2250G>C (p.Arg750=) c.2169G>C (p.Arg723=) c.2166G>C (p.Arg722=) c.2091G>C (p.Arg697=) c.2088G>C (p.Arg696=) | |
17 | g.12992926C>T | CA498009622 | ELAC2 | c.2373G>A (p.Arg791=) c.2316G>A (p.Arg772=) c.2253G>A (p.Arg751=) n.2260G>A n.2202G>A n.3203G>A n.1919G>A c.1772G>A c.2370G>A (p.Arg790=) c.2532G>A (p.Arg844=) c.2454G>A (p.Arg818=) c.2451G>A (p.Arg817=) c.2448G>A (p.Arg816=) c.2412G>A (p.Arg804=) c.2331G>A (p.Arg777=) c.2250G>A (p.Arg750=) c.2169G>A (p.Arg723=) c.2166G>A (p.Arg722=) c.2091G>A (p.Arg697=) c.2088G>A (p.Arg696=) | |
17 | g.12992931_12992939dup | CA288075022 | ELAC2 | c.2365_2373dup (p.Arg791_Ala792insGlnValArg) c.2308_2316dup (p.Arg772_Ala773insGlnValArg) c.2245_2253dup (p.Arg751_Ala752insGlnValArg) n.2252_2260dup n.2194_2202dup n.3195_3203dup n.1911_1919dup c.1764_1772dup c.2362_2370dup (p.Arg790_Ala791insGlnValArg) c.2524_2532dup (p.Arg844_Ala845insGlnValArg) c.2446_2454dup (p.Arg818_Ala819insGlnValArg) c.2443_2451dup (p.Arg817_Ala818insGlnValArg) c.2440_2448dup (p.Arg816_Ala817insGlnValArg) c.2404_2412dup (p.Arg804_Ala805insGlnValArg) c.2323_2331dup (p.Arg777_Ala778insGlnValArg) c.2242_2250dup (p.Arg750_Ala751insGlnValArg) c.2161_2169dup (p.Arg723_Ala724insGlnValArg) c.2158_2166dup (p.Arg722_Ala723insGlnValArg) c.2083_2091dup (p.Arg697_Ala698insGlnValArg) c.2080_2088dup (p.Arg696_Ala697insGlnValArg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992927C>A | CA398222210 | ELAC2 | c.2372G>T (p.Arg791Leu) c.2315G>T (p.Arg772Leu) c.2252G>T (p.Arg751Leu) n.2259G>T n.2201G>T n.3202G>T n.1918G>T c.1771G>T c.2369G>T (p.Arg790Leu) c.2531G>T (p.Arg844Leu) c.2453G>T (p.Arg818Leu) c.2450G>T (p.Arg817Leu) c.2447G>T (p.Arg816Leu) c.2411G>T (p.Arg804Leu) c.2330G>T (p.Arg777Leu) c.2249G>T (p.Arg750Leu) c.2168G>T (p.Arg723Leu) c.2165G>T (p.Arg722Leu) c.2090G>T (p.Arg697Leu) c.2087G>T (p.Arg696Leu) | gnomAD v4 |
17 | g.12992927C= | CA2248421543 | ELAC2 | c.2372G= (p.Arg791=) c.2315G= (p.Arg772=) c.2252G= (p.Arg751=) n.2259G= n.2201G= n.3202G= n.1918G= c.1771G= c.2369G= (p.Arg790=) c.2531G= (p.Arg844=) c.2453G= (p.Arg818=) c.2450G= (p.Arg817=) c.2447G= (p.Arg816=) c.2411G= (p.Arg804=) c.2330G= (p.Arg777=) c.2249G= (p.Arg750=) c.2168G= (p.Arg723=) c.2165G= (p.Arg722=) c.2090G= (p.Arg697=) c.2087G= (p.Arg696=) | |
17 | g.12992927C>G | CA398222211 | ELAC2 | c.2372G>C (p.Arg791Pro) c.2315G>C (p.Arg772Pro) c.2252G>C (p.Arg751Pro) n.2259G>C n.2201G>C n.3202G>C n.1918G>C c.1771G>C c.2369G>C (p.Arg790Pro) c.2531G>C (p.Arg844Pro) c.2453G>C (p.Arg818Pro) c.2450G>C (p.Arg817Pro) c.2447G>C (p.Arg816Pro) c.2411G>C (p.Arg804Pro) c.2330G>C (p.Arg777Pro) c.2249G>C (p.Arg750Pro) c.2168G>C (p.Arg723Pro) c.2165G>C (p.Arg722Pro) c.2090G>C (p.Arg697Pro) c.2087G>C (p.Arg696Pro) | |
17 | g.12992927C>T | CA8400814 | ELAC2 | c.2372G>A (p.Arg791Gln) c.2315G>A (p.Arg772Gln) c.2252G>A (p.Arg751Gln) n.2259G>A n.2201G>A n.3202G>A n.1918G>A c.1771G>A c.2369G>A (p.Arg790Gln) c.2531G>A (p.Arg844Gln) c.2453G>A (p.Arg818Gln) c.2450G>A (p.Arg817Gln) c.2447G>A (p.Arg816Gln) c.2411G>A (p.Arg804Gln) c.2330G>A (p.Arg777Gln) c.2249G>A (p.Arg750Gln) c.2168G>A (p.Arg723Gln) c.2165G>A (p.Arg722Gln) c.2090G>A (p.Arg697Gln) c.2087G>A (p.Arg696Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992928G>A | CA8400815 | ELAC2 | c.2371C>T (p.Arg791Trp) c.2314C>T (p.Arg772Trp) c.2251C>T (p.Arg751Trp) n.2258C>T n.2200C>T n.3201C>T n.1917C>T c.1770C>T c.2368C>T (p.Arg790Trp) c.2530C>T (p.Arg844Trp) c.2452C>T (p.Arg818Trp) c.2449C>T (p.Arg817Trp) c.2446C>T (p.Arg816Trp) c.2410C>T (p.Arg804Trp) c.2329C>T (p.Arg777Trp) c.2248C>T (p.Arg750Trp) c.2167C>T (p.Arg723Trp) c.2164C>T (p.Arg722Trp) c.2089C>T (p.Arg697Trp) c.2086C>T (p.Arg696Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992928G>C | CA398222212 | ELAC2 | c.2371C>G (p.Arg791Gly) c.2314C>G (p.Arg772Gly) c.2251C>G (p.Arg751Gly) n.2258C>G n.2200C>G n.3201C>G n.1917C>G c.1770C>G c.2368C>G (p.Arg790Gly) c.2530C>G (p.Arg844Gly) c.2452C>G (p.Arg818Gly) c.2449C>G (p.Arg817Gly) c.2446C>G (p.Arg816Gly) c.2410C>G (p.Arg804Gly) c.2329C>G (p.Arg777Gly) c.2248C>G (p.Arg750Gly) c.2167C>G (p.Arg723Gly) c.2164C>G (p.Arg722Gly) c.2089C>G (p.Arg697Gly) c.2086C>G (p.Arg696Gly) | dbSNP gnomAD v2 |
17 | g.12992928G= | CA2248421547 | ELAC2 | c.2371C= (p.Arg791=) c.2314C= (p.Arg772=) c.2251C= (p.Arg751=) n.2258C= n.2200C= n.3201C= n.1917C= c.1770C= c.2368C= (p.Arg790=) c.2530C= (p.Arg844=) c.2452C= (p.Arg818=) c.2449C= (p.Arg817=) c.2446C= (p.Arg816=) c.2410C= (p.Arg804=) c.2329C= (p.Arg777=) c.2248C= (p.Arg750=) c.2167C= (p.Arg723=) c.2164C= (p.Arg722=) c.2089C= (p.Arg697=) c.2086C= (p.Arg696=) | |
17 | g.12992928G>T | CA498009623 | ELAC2 | c.2371C>A (p.Arg791=) c.2314C>A (p.Arg772=) c.2251C>A (p.Arg751=) n.2258C>A n.2200C>A n.3201C>A n.1917C>A c.1770C>A c.2368C>A (p.Arg790=) c.2530C>A (p.Arg844=) c.2452C>A (p.Arg818=) c.2449C>A (p.Arg817=) c.2446C>A (p.Arg816=) c.2410C>A (p.Arg804=) c.2329C>A (p.Arg777=) c.2248C>A (p.Arg750=) c.2167C>A (p.Arg723=) c.2164C>A (p.Arg722=) c.2089C>A (p.Arg697=) c.2086C>A (p.Arg696=) | |
17 | g.12992929C>A | CA498009624 | ELAC2 | c.2370G>T (p.Val790=) c.2313G>T (p.Val771=) c.2250G>T (p.Val750=) n.2257G>T n.2199G>T n.3200G>T n.1916G>T c.1769G>T c.2367G>T (p.Val789=) c.2529G>T (p.Val843=) c.2451G>T (p.Val817=) c.2448G>T (p.Val816=) c.2445G>T (p.Val815=) c.2409G>T (p.Val803=) c.2328G>T (p.Val776=) c.2247G>T (p.Val749=) c.2166G>T (p.Val722=) c.2163G>T (p.Val721=) c.2088G>T (p.Val696=) c.2085G>T (p.Val695=) | |
17 | g.12992929C= | CA2248421553 | ELAC2 | c.2370G= (p.Val790=) c.2313G= (p.Val771=) c.2250G= (p.Val750=) n.2257G= n.2199G= n.3200G= n.1916G= c.1769G= c.2367G= (p.Val789=) c.2529G= (p.Val843=) c.2451G= (p.Val817=) c.2448G= (p.Val816=) c.2445G= (p.Val815=) c.2409G= (p.Val803=) c.2328G= (p.Val776=) c.2247G= (p.Val749=) c.2166G= (p.Val722=) c.2163G= (p.Val721=) c.2088G= (p.Val696=) c.2085G= (p.Val695=) | |
17 | g.12992929C>G | CA498009625 | ELAC2 | c.2370G>C (p.Val790=) c.2313G>C (p.Val771=) c.2250G>C (p.Val750=) n.2257G>C n.2199G>C n.3200G>C n.1916G>C c.1769G>C c.2367G>C (p.Val789=) c.2529G>C (p.Val843=) c.2451G>C (p.Val817=) c.2448G>C (p.Val816=) c.2445G>C (p.Val815=) c.2409G>C (p.Val803=) c.2328G>C (p.Val776=) c.2247G>C (p.Val749=) c.2166G>C (p.Val722=) c.2163G>C (p.Val721=) c.2088G>C (p.Val696=) c.2085G>C (p.Val695=) | |
17 | g.12992929C>T | CA8400816 | ELAC2 | c.2370G>A (p.Val790=) c.2313G>A (p.Val771=) c.2250G>A (p.Val750=) n.2257G>A n.2199G>A n.3200G>A n.1916G>A c.1769G>A c.2367G>A (p.Val789=) c.2529G>A (p.Val843=) c.2451G>A (p.Val817=) c.2448G>A (p.Val816=) c.2445G>A (p.Val815=) c.2409G>A (p.Val803=) c.2328G>A (p.Val776=) c.2247G>A (p.Val749=) c.2166G>A (p.Val722=) c.2163G>A (p.Val721=) c.2088G>A (p.Val696=) c.2085G>A (p.Val695=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992930A= | CA2248421557 | ELAC2 | c.2369T= (p.Val790=) c.2312T= (p.Val771=) c.2249T= (p.Val750=) n.2256T= n.2198T= n.3199T= n.1915T= c.1768T= c.2366T= (p.Val789=) c.2528T= (p.Val843=) c.2450T= (p.Val817=) c.2447T= (p.Val816=) c.2444T= (p.Val815=) c.2408T= (p.Val803=) c.2327T= (p.Val776=) c.2246T= (p.Val749=) c.2165T= (p.Val722=) c.2162T= (p.Val721=) c.2087T= (p.Val696=) c.2084T= (p.Val695=) | |
17 | g.12992930A>C | CA8400817 | ELAC2 | c.2369T>G (p.Val790Gly) c.2312T>G (p.Val771Gly) c.2249T>G (p.Val750Gly) n.2256T>G n.2198T>G n.3199T>G n.1915T>G c.1768T>G c.2366T>G (p.Val789Gly) c.2528T>G (p.Val843Gly) c.2450T>G (p.Val817Gly) c.2447T>G (p.Val816Gly) c.2444T>G (p.Val815Gly) c.2408T>G (p.Val803Gly) c.2327T>G (p.Val776Gly) c.2246T>G (p.Val749Gly) c.2165T>G (p.Val722Gly) c.2162T>G (p.Val721Gly) c.2087T>G (p.Val696Gly) c.2084T>G (p.Val695Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992930A>G | CA398222213 | ELAC2 | c.2369T>C (p.Val790Ala) c.2312T>C (p.Val771Ala) c.2249T>C (p.Val750Ala) n.2256T>C n.2198T>C n.3199T>C n.1915T>C c.1768T>C c.2366T>C (p.Val789Ala) c.2528T>C (p.Val843Ala) c.2450T>C (p.Val817Ala) c.2447T>C (p.Val816Ala) c.2444T>C (p.Val815Ala) c.2408T>C (p.Val803Ala) c.2327T>C (p.Val776Ala) c.2246T>C (p.Val749Ala) c.2165T>C (p.Val722Ala) c.2162T>C (p.Val721Ala) c.2087T>C (p.Val696Ala) c.2084T>C (p.Val695Ala) | gnomAD v4 |
17 | g.12992930A>T | CA398222214 | ELAC2 | c.2369T>A (p.Val790Glu) c.2312T>A (p.Val771Glu) c.2249T>A (p.Val750Glu) n.2256T>A n.2198T>A n.3199T>A n.1915T>A c.1768T>A c.2366T>A (p.Val789Glu) c.2528T>A (p.Val843Glu) c.2450T>A (p.Val817Glu) c.2447T>A (p.Val816Glu) c.2444T>A (p.Val815Glu) c.2408T>A (p.Val803Glu) c.2327T>A (p.Val776Glu) c.2246T>A (p.Val749Glu) c.2165T>A (p.Val722Glu) c.2162T>A (p.Val721Glu) c.2087T>A (p.Val696Glu) c.2084T>A (p.Val695Glu) | |
17 | g.12992931C>A | CA398222215 | ELAC2 | c.2368G>T (p.Val790Leu) c.2311G>T (p.Val771Leu) c.2248G>T (p.Val750Leu) n.2255G>T n.2197G>T n.3198G>T n.1914G>T c.1767G>T c.2365G>T (p.Val789Leu) c.2527G>T (p.Val843Leu) c.2449G>T (p.Val817Leu) c.2446G>T (p.Val816Leu) c.2443G>T (p.Val815Leu) c.2407G>T (p.Val803Leu) c.2326G>T (p.Val776Leu) c.2245G>T (p.Val749Leu) c.2164G>T (p.Val722Leu) c.2161G>T (p.Val721Leu) c.2086G>T (p.Val696Leu) c.2083G>T (p.Val695Leu) | dbSNP |
17 | g.12992931C= | CA2248421560 | ELAC2 | c.2368G= (p.Val790=) c.2311G= (p.Val771=) c.2248G= (p.Val750=) n.2255G= n.2197G= n.3198G= n.1914G= c.1767G= c.2365G= (p.Val789=) c.2527G= (p.Val843=) c.2449G= (p.Val817=) c.2446G= (p.Val816=) c.2443G= (p.Val815=) c.2407G= (p.Val803=) c.2326G= (p.Val776=) c.2245G= (p.Val749=) c.2164G= (p.Val722=) c.2161G= (p.Val721=) c.2086G= (p.Val696=) c.2083G= (p.Val695=) | |
17 | g.12992931C>G | CA398222217 | ELAC2 | c.2368G>C (p.Val790Leu) c.2311G>C (p.Val771Leu) c.2248G>C (p.Val750Leu) n.2255G>C n.2197G>C n.3198G>C n.1914G>C c.1767G>C c.2365G>C (p.Val789Leu) c.2527G>C (p.Val843Leu) c.2449G>C (p.Val817Leu) c.2446G>C (p.Val816Leu) c.2443G>C (p.Val815Leu) c.2407G>C (p.Val803Leu) c.2326G>C (p.Val776Leu) c.2245G>C (p.Val749Leu) c.2164G>C (p.Val722Leu) c.2161G>C (p.Val721Leu) c.2086G>C (p.Val696Leu) c.2083G>C (p.Val695Leu) | |
17 | g.12992931C>T | CA398222216 | ELAC2 | c.2368G>A (p.Val790Met) c.2311G>A (p.Val771Met) c.2248G>A (p.Val750Met) n.2255G>A n.2197G>A n.3198G>A n.1914G>A c.1767G>A c.2365G>A (p.Val789Met) c.2527G>A (p.Val843Met) c.2449G>A (p.Val817Met) c.2446G>A (p.Val816Met) c.2443G>A (p.Val815Met) c.2407G>A (p.Val803Met) c.2326G>A (p.Val776Met) c.2245G>A (p.Val749Met) c.2164G>A (p.Val722Met) c.2161G>A (p.Val721Met) c.2086G>A (p.Val696Met) c.2083G>A (p.Val695Met) | ClinVar gnomAD v4 COSMIC |
17 | g.12992932C>A | CA398222218 | ELAC2 | c.2367G>T (p.Gln789His) c.2310G>T (p.Gln770His) c.2247G>T (p.Gln749His) n.2254G>T n.2196G>T n.3197G>T n.1913G>T c.1766G>T c.2364G>T (p.Gln788His) c.2526G>T (p.Gln842His) c.2448G>T (p.Gln816His) c.2445G>T (p.Gln815His) c.2442G>T (p.Gln814His) c.2406G>T (p.Gln802His) c.2325G>T (p.Gln775His) c.2244G>T (p.Gln748His) c.2163G>T (p.Gln721His) c.2160G>T (p.Gln720His) c.2085G>T (p.Gln695His) c.2082G>T (p.Gln694His) | ClinVar dbSNP |
17 | g.12992932C>G | CA398222219 | ELAC2 | c.2367G>C (p.Gln789His) c.2310G>C (p.Gln770His) c.2247G>C (p.Gln749His) n.2254G>C n.2196G>C n.3197G>C n.1913G>C c.1766G>C c.2364G>C (p.Gln788His) c.2526G>C (p.Gln842His) c.2448G>C (p.Gln816His) c.2445G>C (p.Gln815His) c.2442G>C (p.Gln814His) c.2406G>C (p.Gln802His) c.2325G>C (p.Gln775His) c.2244G>C (p.Gln748His) c.2163G>C (p.Gln721His) c.2160G>C (p.Gln720His) c.2085G>C (p.Gln695His) c.2082G>C (p.Gln694His) | |
17 | g.12992932C>T | CA498009626 | ELAC2 | c.2367G>A (p.Gln789=) c.2310G>A (p.Gln770=) c.2247G>A (p.Gln749=) n.2254G>A n.2196G>A n.3197G>A n.1913G>A c.1766G>A c.2364G>A (p.Gln788=) c.2526G>A (p.Gln842=) c.2448G>A (p.Gln816=) c.2445G>A (p.Gln815=) c.2442G>A (p.Gln814=) c.2406G>A (p.Gln802=) c.2325G>A (p.Gln775=) c.2244G>A (p.Gln748=) c.2163G>A (p.Gln721=) c.2160G>A (p.Gln720=) c.2085G>A (p.Gln695=) c.2082G>A (p.Gln694=) | |
17 | g.12992933T>A | CA398222220 | ELAC2 | c.2366A>T (p.Gln789Leu) c.2309A>T (p.Gln770Leu) c.2246A>T (p.Gln749Leu) n.2253A>T n.2195A>T n.3196A>T n.1912A>T c.1765A>T c.2363A>T (p.Gln788Leu) c.2525A>T (p.Gln842Leu) c.2447A>T (p.Gln816Leu) c.2444A>T (p.Gln815Leu) c.2441A>T (p.Gln814Leu) c.2405A>T (p.Gln802Leu) c.2324A>T (p.Gln775Leu) c.2243A>T (p.Gln748Leu) c.2162A>T (p.Gln721Leu) c.2159A>T (p.Gln720Leu) c.2084A>T (p.Gln695Leu) c.2081A>T (p.Gln694Leu) | |
17 | g.12992933T>C | CA398222222 | ELAC2 | c.2366A>G (p.Gln789Arg) c.2309A>G (p.Gln770Arg) c.2246A>G (p.Gln749Arg) n.2253A>G n.2195A>G n.3196A>G n.1912A>G c.1765A>G c.2363A>G (p.Gln788Arg) c.2525A>G (p.Gln842Arg) c.2447A>G (p.Gln816Arg) c.2444A>G (p.Gln815Arg) c.2441A>G (p.Gln814Arg) c.2405A>G (p.Gln802Arg) c.2324A>G (p.Gln775Arg) c.2243A>G (p.Gln748Arg) c.2162A>G (p.Gln721Arg) c.2159A>G (p.Gln720Arg) c.2084A>G (p.Gln695Arg) c.2081A>G (p.Gln694Arg) | |
17 | g.12992933T>G | CA398222221 | ELAC2 | c.2366A>C (p.Gln789Pro) c.2309A>C (p.Gln770Pro) c.2246A>C (p.Gln749Pro) n.2253A>C n.2195A>C n.3196A>C n.1912A>C c.1765A>C c.2363A>C (p.Gln788Pro) c.2525A>C (p.Gln842Pro) c.2447A>C (p.Gln816Pro) c.2444A>C (p.Gln815Pro) c.2441A>C (p.Gln814Pro) c.2405A>C (p.Gln802Pro) c.2324A>C (p.Gln775Pro) c.2243A>C (p.Gln748Pro) c.2162A>C (p.Gln721Pro) c.2159A>C (p.Gln720Pro) c.2084A>C (p.Gln695Pro) c.2081A>C (p.Gln694Pro) | |
17 | g.12992934G>A | CA398222223 | ELAC2 | c.2365C>T (p.Gln789Ter) c.2308C>T (p.Gln770Ter) c.2245C>T (p.Gln749Ter) n.2252C>T n.2194C>T n.3195C>T n.1911C>T c.1764C>T c.2362C>T (p.Gln788Ter) c.2524C>T (p.Gln842Ter) c.2446C>T (p.Gln816Ter) c.2443C>T (p.Gln815Ter) c.2440C>T (p.Gln814Ter) c.2404C>T (p.Gln802Ter) c.2323C>T (p.Gln775Ter) c.2242C>T (p.Gln748Ter) c.2161C>T (p.Gln721Ter) c.2158C>T (p.Gln720Ter) c.2083C>T (p.Gln695Ter) c.2080C>T (p.Gln694Ter) | gnomAD v4 |
17 | g.12992934G>C | CA398222224 | ELAC2 | c.2365C>G (p.Gln789Glu) c.2308C>G (p.Gln770Glu) c.2245C>G (p.Gln749Glu) n.2252C>G n.2194C>G n.3195C>G n.1911C>G c.1764C>G c.2362C>G (p.Gln788Glu) c.2524C>G (p.Gln842Glu) c.2446C>G (p.Gln816Glu) c.2443C>G (p.Gln815Glu) c.2440C>G (p.Gln814Glu) c.2404C>G (p.Gln802Glu) c.2323C>G (p.Gln775Glu) c.2242C>G (p.Gln748Glu) c.2161C>G (p.Gln721Glu) c.2158C>G (p.Gln720Glu) c.2083C>G (p.Gln695Glu) c.2080C>G (p.Gln694Glu) | |
17 | g.12992934G>T | CA398222225 | ELAC2 | c.2365C>A (p.Gln789Lys) c.2308C>A (p.Gln770Lys) c.2245C>A (p.Gln749Lys) n.2252C>A n.2194C>A n.3195C>A n.1911C>A c.1764C>A c.2362C>A (p.Gln788Lys) c.2524C>A (p.Gln842Lys) c.2446C>A (p.Gln816Lys) c.2443C>A (p.Gln815Lys) c.2440C>A (p.Gln814Lys) c.2404C>A (p.Gln802Lys) c.2323C>A (p.Gln775Lys) c.2242C>A (p.Gln748Lys) c.2161C>A (p.Gln721Lys) c.2158C>A (p.Gln720Lys) c.2083C>A (p.Gln695Lys) c.2080C>A (p.Gln694Lys) | gnomAD v4 |
17 | g.12992935C>A | CA498009629 | ELAC2 | c.2364G>T (p.Arg788=) c.2307G>T (p.Arg769=) c.2244G>T (p.Arg748=) n.2251G>T n.2193G>T n.3194G>T n.1910G>T c.1763G>T c.2361G>T (p.Arg787=) c.2523G>T (p.Arg841=) c.2445G>T (p.Arg815=) c.2442G>T (p.Arg814=) c.2439G>T (p.Arg813=) c.2403G>T (p.Arg801=) c.2322G>T (p.Arg774=) c.2241G>T (p.Arg747=) c.2160G>T (p.Arg720=) c.2157G>T (p.Arg719=) c.2082G>T (p.Arg694=) c.2079G>T (p.Arg693=) | |
17 | g.12992935C>G | CA498009628 | ELAC2 | c.2364G>C (p.Arg788=) c.2307G>C (p.Arg769=) c.2244G>C (p.Arg748=) n.2251G>C n.2193G>C n.3194G>C n.1910G>C c.1763G>C c.2361G>C (p.Arg787=) c.2523G>C (p.Arg841=) c.2445G>C (p.Arg815=) c.2442G>C (p.Arg814=) c.2439G>C (p.Arg813=) c.2403G>C (p.Arg801=) c.2322G>C (p.Arg774=) c.2241G>C (p.Arg747=) c.2160G>C (p.Arg720=) c.2157G>C (p.Arg719=) c.2082G>C (p.Arg694=) c.2079G>C (p.Arg693=) | |
17 | g.12992935C>T | CA498009627 | ELAC2 | c.2364G>A (p.Arg788=) c.2307G>A (p.Arg769=) c.2244G>A (p.Arg748=) n.2251G>A n.2193G>A n.3194G>A n.1910G>A c.1763G>A c.2361G>A (p.Arg787=) c.2523G>A (p.Arg841=) c.2445G>A (p.Arg815=) c.2442G>A (p.Arg814=) c.2439G>A (p.Arg813=) c.2403G>A (p.Arg801=) c.2322G>A (p.Arg774=) c.2241G>A (p.Arg747=) c.2160G>A (p.Arg720=) c.2157G>A (p.Arg719=) c.2082G>A (p.Arg694=) c.2079G>A (p.Arg693=) | gnomAD v4 |
17 | g.12992939_12992947del | CA2636193303 | ELAC2 | c.2356_2364del (p.Glu786_Arg788del) c.2299_2307del (p.Glu767_Arg769del) c.2236_2244del (p.Glu746_Arg748del) n.2243_2251del n.2185_2193del n.3186_3194del n.1902_1910del c.1755_1763del c.2353_2361del (p.Glu785_Arg787del) c.2515_2523del (p.Glu839_Arg841del) c.2437_2445del (p.Glu813_Arg815del) c.2434_2442del (p.Glu812_Arg814del) c.2431_2439del (p.Glu811_Arg813del) c.2395_2403del (p.Glu799_Arg801del) c.2314_2322del (p.Glu772_Arg774del) c.2233_2241del (p.Glu745_Arg747del) c.2152_2160del (p.Glu718_Arg720del) c.2149_2157del (p.Glu717_Arg719del) c.2074_2082del (p.Glu692_Arg694del) c.2071_2079del (p.Glu691_Arg693del) | gnomAD v4 |
17 | g.12992936C>A | CA398222226 | ELAC2 | c.2363G>T (p.Arg788Leu) c.2306G>T (p.Arg769Leu) c.2243G>T (p.Arg748Leu) n.2250G>T n.2192G>T n.3193G>T n.1909G>T c.1762G>T c.2360G>T (p.Arg787Leu) c.2522G>T (p.Arg841Leu) c.2444G>T (p.Arg815Leu) c.2441G>T (p.Arg814Leu) c.2438G>T (p.Arg813Leu) c.2402G>T (p.Arg801Leu) c.2321G>T (p.Arg774Leu) c.2240G>T (p.Arg747Leu) c.2159G>T (p.Arg720Leu) c.2156G>T (p.Arg719Leu) c.2081G>T (p.Arg694Leu) c.2078G>T (p.Arg693Leu) | |
17 | g.12992936C= | CA2248421562 | ELAC2 | c.2363G= (p.Arg788=) c.2306G= (p.Arg769=) c.2243G= (p.Arg748=) n.2250G= n.2192G= n.3193G= n.1909G= c.1762G= c.2360G= (p.Arg787=) c.2522G= (p.Arg841=) c.2444G= (p.Arg815=) c.2441G= (p.Arg814=) c.2438G= (p.Arg813=) c.2402G= (p.Arg801=) c.2321G= (p.Arg774=) c.2240G= (p.Arg747=) c.2159G= (p.Arg720=) c.2156G= (p.Arg719=) c.2081G= (p.Arg694=) c.2078G= (p.Arg693=) | |
17 | g.12992936C>G | CA398222227 | ELAC2 | c.2363G>C (p.Arg788Pro) c.2306G>C (p.Arg769Pro) c.2243G>C (p.Arg748Pro) n.2250G>C n.2192G>C n.3193G>C n.1909G>C c.1762G>C c.2360G>C (p.Arg787Pro) c.2522G>C (p.Arg841Pro) c.2444G>C (p.Arg815Pro) c.2441G>C (p.Arg814Pro) c.2438G>C (p.Arg813Pro) c.2402G>C (p.Arg801Pro) c.2321G>C (p.Arg774Pro) c.2240G>C (p.Arg747Pro) c.2159G>C (p.Arg720Pro) c.2156G>C (p.Arg719Pro) c.2081G>C (p.Arg694Pro) c.2078G>C (p.Arg693Pro) | |
17 | g.12992936C>T | CA8400818 | ELAC2 | c.2363G>A (p.Arg788Gln) c.2306G>A (p.Arg769Gln) c.2243G>A (p.Arg748Gln) n.2250G>A n.2192G>A n.3193G>A n.1909G>A c.1762G>A c.2360G>A (p.Arg787Gln) c.2522G>A (p.Arg841Gln) c.2444G>A (p.Arg815Gln) c.2441G>A (p.Arg814Gln) c.2438G>A (p.Arg813Gln) c.2402G>A (p.Arg801Gln) c.2321G>A (p.Arg774Gln) c.2240G>A (p.Arg747Gln) c.2159G>A (p.Arg720Gln) c.2156G>A (p.Arg719Gln) c.2081G>A (p.Arg694Gln) c.2078G>A (p.Arg693Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.12992937G>A | CA8400819 | ELAC2 | c.2362C>T (p.Arg788Trp) c.2305C>T (p.Arg769Trp) c.2242C>T (p.Arg748Trp) n.2249C>T n.2191C>T n.3192C>T n.1908C>T c.1761C>T c.2359C>T (p.Arg787Trp) c.2521C>T (p.Arg841Trp) c.2443C>T (p.Arg815Trp) c.2440C>T (p.Arg814Trp) c.2437C>T (p.Arg813Trp) c.2401C>T (p.Arg801Trp) c.2320C>T (p.Arg774Trp) c.2239C>T (p.Arg747Trp) c.2158C>T (p.Arg720Trp) c.2155C>T (p.Arg719Trp) c.2080C>T (p.Arg694Trp) c.2077C>T (p.Arg693Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992937G>C | CA398222228 | ELAC2 | c.2362C>G (p.Arg788Gly) c.2305C>G (p.Arg769Gly) c.2242C>G (p.Arg748Gly) n.2249C>G n.2191C>G n.3192C>G n.1908C>G c.1761C>G c.2359C>G (p.Arg787Gly) c.2521C>G (p.Arg841Gly) c.2443C>G (p.Arg815Gly) c.2440C>G (p.Arg814Gly) c.2437C>G (p.Arg813Gly) c.2401C>G (p.Arg801Gly) c.2320C>G (p.Arg774Gly) c.2239C>G (p.Arg747Gly) c.2158C>G (p.Arg720Gly) c.2155C>G (p.Arg719Gly) c.2080C>G (p.Arg694Gly) c.2077C>G (p.Arg693Gly) | |
17 | g.12992937G= | CA2248421568 | ELAC2 | c.2362C= (p.Arg788=) c.2305C= (p.Arg769=) c.2242C= (p.Arg748=) n.2249C= n.2191C= n.3192C= n.1908C= c.1761C= c.2359C= (p.Arg787=) c.2521C= (p.Arg841=) c.2443C= (p.Arg815=) c.2440C= (p.Arg814=) c.2437C= (p.Arg813=) c.2401C= (p.Arg801=) c.2320C= (p.Arg774=) c.2239C= (p.Arg747=) c.2158C= (p.Arg720=) c.2155C= (p.Arg719=) c.2080C= (p.Arg694=) c.2077C= (p.Arg693=) | |
17 | g.12992937G>T | CA498009630 | ELAC2 | c.2362C>A (p.Arg788=) c.2305C>A (p.Arg769=) c.2242C>A (p.Arg748=) n.2249C>A n.2191C>A n.3192C>A n.1908C>A c.1761C>A c.2359C>A (p.Arg787=) c.2521C>A (p.Arg841=) c.2443C>A (p.Arg815=) c.2440C>A (p.Arg814=) c.2437C>A (p.Arg813=) c.2401C>A (p.Arg801=) c.2320C>A (p.Arg774=) c.2239C>A (p.Arg747=) c.2158C>A (p.Arg720=) c.2155C>A (p.Arg719=) c.2080C>A (p.Arg694=) c.2077C>A (p.Arg693=) | gnomAD v4 |
17 | g.12992938C>A | CA8400820 | ELAC2 | c.2361G>T (p.Leu787=) c.2304G>T (p.Leu768=) c.2241G>T (p.Leu747=) n.2248G>T n.2190G>T n.3191G>T n.1907G>T c.1760G>T c.2358G>T (p.Leu786=) c.2520G>T (p.Leu840=) c.2442G>T (p.Leu814=) c.2439G>T (p.Leu813=) c.2436G>T (p.Leu812=) c.2400G>T (p.Leu800=) c.2319G>T (p.Leu773=) c.2238G>T (p.Leu746=) c.2157G>T (p.Leu719=) c.2154G>T (p.Leu718=) c.2079G>T (p.Leu693=) c.2076G>T (p.Leu692=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.12992938C= | CA2248421571 | ELAC2 | c.2361G= (p.Leu787=) c.2304G= (p.Leu768=) c.2241G= (p.Leu747=) n.2248G= n.2190G= n.3191G= n.1907G= c.1760G= c.2358G= (p.Leu786=) c.2520G= (p.Leu840=) c.2442G= (p.Leu814=) c.2439G= (p.Leu813=) c.2436G= (p.Leu812=) c.2400G= (p.Leu800=) c.2319G= (p.Leu773=) c.2238G= (p.Leu746=) c.2157G= (p.Leu719=) c.2154G= (p.Leu718=) c.2079G= (p.Leu693=) c.2076G= (p.Leu692=) | |
17 | g.12992938C>G | CA498009632 | ELAC2 | c.2361G>C (p.Leu787=) c.2304G>C (p.Leu768=) c.2241G>C (p.Leu747=) n.2248G>C n.2190G>C n.3191G>C n.1907G>C c.1760G>C c.2358G>C (p.Leu786=) c.2520G>C (p.Leu840=) c.2442G>C (p.Leu814=) c.2439G>C (p.Leu813=) c.2436G>C (p.Leu812=) c.2400G>C (p.Leu800=) c.2319G>C (p.Leu773=) c.2238G>C (p.Leu746=) c.2157G>C (p.Leu719=) c.2154G>C (p.Leu718=) c.2079G>C (p.Leu693=) c.2076G>C (p.Leu692=) | |
17 | g.12992938C>T | CA498009631 | ELAC2 | c.2361G>A (p.Leu787=) c.2304G>A (p.Leu768=) c.2241G>A (p.Leu747=) n.2248G>A n.2190G>A n.3191G>A n.1907G>A c.1760G>A c.2358G>A (p.Leu786=) c.2520G>A (p.Leu840=) c.2442G>A (p.Leu814=) c.2439G>A (p.Leu813=) c.2436G>A (p.Leu812=) c.2400G>A (p.Leu800=) c.2319G>A (p.Leu773=) c.2238G>A (p.Leu746=) c.2157G>A (p.Leu719=) c.2154G>A (p.Leu718=) c.2079G>A (p.Leu693=) c.2076G>A (p.Leu692=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.12992939A= | CA2248421575 | ELAC2 | c.2360T= (p.Leu787=) c.2303T= (p.Leu768=) c.2240T= (p.Leu747=) n.2247T= n.2189T= n.3190T= n.1906T= c.1759T= c.2357T= (p.Leu786=) c.2519T= (p.Leu840=) c.2441T= (p.Leu814=) c.2438T= (p.Leu813=) c.2435T= (p.Leu812=) c.2399T= (p.Leu800=) c.2318T= (p.Leu773=) c.2237T= (p.Leu746=) c.2156T= (p.Leu719=) c.2153T= (p.Leu718=) c.2078T= (p.Leu693=) c.2075T= (p.Leu692=) | |
17 | g.12992939A>C | CA398222229 | ELAC2 | c.2360T>G (p.Leu787Arg) c.2303T>G (p.Leu768Arg) c.2240T>G (p.Leu747Arg) n.2247T>G n.2189T>G n.3190T>G n.1906T>G c.1759T>G c.2357T>G (p.Leu786Arg) c.2519T>G (p.Leu840Arg) c.2441T>G (p.Leu814Arg) c.2438T>G (p.Leu813Arg) c.2435T>G (p.Leu812Arg) c.2399T>G (p.Leu800Arg) c.2318T>G (p.Leu773Arg) c.2237T>G (p.Leu746Arg) c.2156T>G (p.Leu719Arg) c.2153T>G (p.Leu718Arg) c.2078T>G (p.Leu693Arg) c.2075T>G (p.Leu692Arg) | |
17 | g.12992939A>G | CA398222230 | ELAC2 | c.2360T>C (p.Leu787Pro) c.2303T>C (p.Leu768Pro) c.2240T>C (p.Leu747Pro) n.2247T>C n.2189T>C n.3190T>C n.1906T>C c.1759T>C c.2357T>C (p.Leu786Pro) c.2519T>C (p.Leu840Pro) c.2441T>C (p.Leu814Pro) c.2438T>C (p.Leu813Pro) c.2435T>C (p.Leu812Pro) c.2399T>C (p.Leu800Pro) c.2318T>C (p.Leu773Pro) c.2237T>C (p.Leu746Pro) c.2156T>C (p.Leu719Pro) c.2153T>C (p.Leu718Pro) c.2078T>C (p.Leu693Pro) c.2075T>C (p.Leu692Pro) | |
17 | g.12992939A>T | CA8400821 | ELAC2 | c.2360T>A (p.Leu787Gln) c.2303T>A (p.Leu768Gln) c.2240T>A (p.Leu747Gln) n.2247T>A n.2189T>A n.3190T>A n.1906T>A c.1759T>A c.2357T>A (p.Leu786Gln) c.2519T>A (p.Leu840Gln) c.2441T>A (p.Leu814Gln) c.2438T>A (p.Leu813Gln) c.2435T>A (p.Leu812Gln) c.2399T>A (p.Leu800Gln) c.2318T>A (p.Leu773Gln) c.2237T>A (p.Leu746Gln) c.2156T>A (p.Leu719Gln) c.2153T>A (p.Leu718Gln) c.2078T>A (p.Leu693Gln) c.2075T>A (p.Leu692Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.12992940G>A | CA498009633 | ELAC2 | c.2359C>T (p.Leu787=) c.2302C>T (p.Leu768=) c.2239C>T (p.Leu747=) n.2246C>T n.2188C>T n.3189C>T n.1905C>T c.1758C>T c.2356C>T (p.Leu786=) c.2518C>T (p.Leu840=) c.2440C>T (p.Leu814=) c.2437C>T (p.Leu813=) c.2434C>T (p.Leu812=) c.2398C>T (p.Leu800=) c.2317C>T (p.Leu773=) c.2236C>T (p.Leu746=) c.2155C>T (p.Leu719=) c.2152C>T (p.Leu718=) c.2077C>T (p.Leu693=) c.2074C>T (p.Leu692=) | dbSNP gnomAD v4 |
17 | g.12992940G>C | CA398222231 | ELAC2 | c.2359C>G (p.Leu787Val) c.2302C>G (p.Leu768Val) c.2239C>G (p.Leu747Val) n.2246C>G n.2188C>G n.3189C>G n.1905C>G c.1758C>G c.2356C>G (p.Leu786Val) c.2518C>G (p.Leu840Val) c.2440C>G (p.Leu814Val) c.2437C>G (p.Leu813Val) c.2434C>G (p.Leu812Val) c.2398C>G (p.Leu800Val) c.2317C>G (p.Leu773Val) c.2236C>G (p.Leu746Val) c.2155C>G (p.Leu719Val) c.2152C>G (p.Leu718Val) c.2077C>G (p.Leu693Val) c.2074C>G (p.Leu692Val) | |
17 | g.12992940G>T | CA398222232 | ELAC2 | c.2359C>A (p.Leu787Met) c.2302C>A (p.Leu768Met) c.2239C>A (p.Leu747Met) n.2246C>A n.2188C>A n.3189C>A n.1905C>A c.1758C>A c.2356C>A (p.Leu786Met) c.2518C>A (p.Leu840Met) c.2440C>A (p.Leu814Met) c.2437C>A (p.Leu813Met) c.2434C>A (p.Leu812Met) c.2398C>A (p.Leu800Met) c.2317C>A (p.Leu773Met) c.2236C>A (p.Leu746Met) c.2155C>A (p.Leu719Met) c.2152C>A (p.Leu718Met) c.2077C>A (p.Leu693Met) c.2074C>A (p.Leu692Met) | gnomAD v4 |
17 | g.12992941C>A | CA398222233 | ELAC2 | c.2358G>T (p.Glu786Asp) c.2301G>T (p.Glu767Asp) c.2238G>T (p.Glu746Asp) n.2245G>T n.2187G>T n.3188G>T n.1904G>T c.1757G>T c.2355G>T (p.Glu785Asp) c.2517G>T (p.Glu839Asp) c.2439G>T (p.Glu813Asp) c.2436G>T (p.Glu812Asp) c.2433G>T (p.Glu811Asp) c.2397G>T (p.Glu799Asp) c.2316G>T (p.Glu772Asp) c.2235G>T (p.Glu745Asp) c.2154G>T (p.Glu718Asp) c.2151G>T (p.Glu717Asp) c.2076G>T (p.Glu692Asp) c.2073G>T (p.Glu691Asp) | |
17 | g.12992941C>G | CA398222234 | ELAC2 | c.2358G>C (p.Glu786Asp) c.2301G>C (p.Glu767Asp) c.2238G>C (p.Glu746Asp) n.2245G>C n.2187G>C n.3188G>C n.1904G>C c.1757G>C c.2355G>C (p.Glu785Asp) c.2517G>C (p.Glu839Asp) c.2439G>C (p.Glu813Asp) c.2436G>C (p.Glu812Asp) c.2433G>C (p.Glu811Asp) c.2397G>C (p.Glu799Asp) c.2316G>C (p.Glu772Asp) c.2235G>C (p.Glu745Asp) c.2154G>C (p.Glu718Asp) c.2151G>C (p.Glu717Asp) c.2076G>C (p.Glu692Asp) c.2073G>C (p.Glu691Asp) | |
17 | g.12992941C>T | CA498009634 | ELAC2 | c.2358G>A (p.Glu786=) c.2301G>A (p.Glu767=) c.2238G>A (p.Glu746=) n.2245G>A n.2187G>A n.3188G>A n.1904G>A c.1757G>A c.2355G>A (p.Glu785=) c.2517G>A (p.Glu839=) c.2439G>A (p.Glu813=) c.2436G>A (p.Glu812=) c.2433G>A (p.Glu811=) c.2397G>A (p.Glu799=) c.2316G>A (p.Glu772=) c.2235G>A (p.Glu745=) c.2154G>A (p.Glu718=) c.2151G>A (p.Glu717=) c.2076G>A (p.Glu692=) c.2073G>A (p.Glu691=) | gnomAD v4 |
17 | g.12992942T>A | CA398222235 | ELAC2 | c.2357A>T (p.Glu786Val) c.2300A>T (p.Glu767Val) c.2237A>T (p.Glu746Val) n.2244A>T n.2186A>T n.3187A>T n.1903A>T c.1756A>T c.2354A>T (p.Glu785Val) c.2516A>T (p.Glu839Val) c.2438A>T (p.Glu813Val) c.2435A>T (p.Glu812Val) c.2432A>T (p.Glu811Val) c.2396A>T (p.Glu799Val) c.2315A>T (p.Glu772Val) c.2234A>T (p.Glu745Val) c.2153A>T (p.Glu718Val) c.2150A>T (p.Glu717Val) c.2075A>T (p.Glu692Val) c.2072A>T (p.Glu691Val) | |
17 | g.12992942T>C | CA398222236 | ELAC2 | c.2357A>G (p.Glu786Gly) c.2300A>G (p.Glu767Gly) c.2237A>G (p.Glu746Gly) n.2244A>G n.2186A>G n.3187A>G n.1903A>G c.1756A>G c.2354A>G (p.Glu785Gly) c.2516A>G (p.Glu839Gly) c.2438A>G (p.Glu813Gly) c.2435A>G (p.Glu812Gly) c.2432A>G (p.Glu811Gly) c.2396A>G (p.Glu799Gly) c.2315A>G (p.Glu772Gly) c.2234A>G (p.Glu745Gly) c.2153A>G (p.Glu718Gly) c.2150A>G (p.Glu717Gly) c.2075A>G (p.Glu692Gly) c.2072A>G (p.Glu691Gly) | |
17 | g.12992942T>G | CA398222237 | ELAC2 | c.2357A>C (p.Glu786Ala) c.2300A>C (p.Glu767Ala) c.2237A>C (p.Glu746Ala) n.2244A>C n.2186A>C n.3187A>C n.1903A>C c.1756A>C c.2354A>C (p.Glu785Ala) c.2516A>C (p.Glu839Ala) c.2438A>C (p.Glu813Ala) c.2435A>C (p.Glu812Ala) c.2432A>C (p.Glu811Ala) c.2396A>C (p.Glu799Ala) c.2315A>C (p.Glu772Ala) c.2234A>C (p.Glu745Ala) c.2153A>C (p.Glu718Ala) c.2150A>C (p.Glu717Ala) c.2075A>C (p.Glu692Ala) c.2072A>C (p.Glu691Ala) | |
17 | g.12992943C>A | CA398222238 | ELAC2 | c.2356G>T (p.Glu786Ter) c.2299G>T (p.Glu767Ter) c.2236G>T (p.Glu746Ter) n.2243G>T n.2185G>T n.3186G>T n.1902G>T c.1755G>T c.2353G>T (p.Glu785Ter) c.2515G>T (p.Glu839Ter) c.2437G>T (p.Glu813Ter) c.2434G>T (p.Glu812Ter) c.2431G>T (p.Glu811Ter) c.2395G>T (p.Glu799Ter) c.2314G>T (p.Glu772Ter) c.2233G>T (p.Glu745Ter) c.2152G>T (p.Glu718Ter) c.2149G>T (p.Glu717Ter) c.2074G>T (p.Glu692Ter) c.2071G>T (p.Glu691Ter) | |
17 | g.12992943C= | CA2248421579 | ELAC2 | c.2356G= (p.Glu786=) c.2299G= (p.Glu767=) c.2236G= (p.Glu746=) n.2243G= n.2185G= n.3186G= n.1902G= c.1755G= c.2353G= (p.Glu785=) c.2515G= (p.Glu839=) c.2437G= (p.Glu813=) c.2434G= (p.Glu812=) c.2431G= (p.Glu811=) c.2395G= (p.Glu799=) c.2314G= (p.Glu772=) c.2233G= (p.Glu745=) c.2152G= (p.Glu718=) c.2149G= (p.Glu717=) c.2074G= (p.Glu692=) c.2071G= (p.Glu691=) | |
17 | g.12992943C>G | CA398222239 | ELAC2 | c.2356G>C (p.Glu786Gln) c.2299G>C (p.Glu767Gln) c.2236G>C (p.Glu746Gln) n.2243G>C n.2185G>C n.3186G>C n.1902G>C c.1755G>C c.2353G>C (p.Glu785Gln) c.2515G>C (p.Glu839Gln) c.2437G>C (p.Glu813Gln) c.2434G>C (p.Glu812Gln) c.2431G>C (p.Glu811Gln) c.2395G>C (p.Glu799Gln) c.2314G>C (p.Glu772Gln) c.2233G>C (p.Glu745Gln) c.2152G>C (p.Glu718Gln) c.2149G>C (p.Glu717Gln) c.2074G>C (p.Glu692Gln) c.2071G>C (p.Glu691Gln) | |
17 | g.12992943C>T | CA398222240 | ELAC2 | c.2356G>A (p.Glu786Lys) c.2299G>A (p.Glu767Lys) c.2236G>A (p.Glu746Lys) n.2243G>A n.2185G>A n.3186G>A n.1902G>A c.1755G>A c.2353G>A (p.Glu785Lys) c.2515G>A (p.Glu839Lys) c.2437G>A (p.Glu813Lys) c.2434G>A (p.Glu812Lys) c.2431G>A (p.Glu811Lys) c.2395G>A (p.Glu799Lys) c.2314G>A (p.Glu772Lys) c.2233G>A (p.Glu745Lys) c.2152G>A (p.Glu718Lys) c.2149G>A (p.Glu717Lys) c.2074G>A (p.Glu692Lys) c.2071G>A (p.Glu691Lys) | dbSNP gnomAD v2 |
17 | g.12992944C>A | CA498009635 | ELAC2 | c.2355G>T (p.Arg785=) c.2298G>T (p.Arg766=) c.2235G>T (p.Arg745=) n.2242G>T n.2184G>T n.3185G>T n.1901G>T c.1754G>T c.2352G>T (p.Arg784=) c.2514G>T (p.Arg838=) c.2436G>T (p.Arg812=) c.2433G>T (p.Arg811=) c.2430G>T (p.Arg810=) c.2394G>T (p.Arg798=) c.2313G>T (p.Arg771=) c.2232G>T (p.Arg744=) c.2151G>T (p.Arg717=) c.2148G>T (p.Arg716=) c.2073G>T (p.Arg691=) c.2070G>T (p.Arg690=) | COSMIC |
17 | g.12992944C>G | CA498009636 | ELAC2 | c.2355G>C (p.Arg785=) c.2298G>C (p.Arg766=) c.2235G>C (p.Arg745=) n.2242G>C n.2184G>C n.3185G>C n.1901G>C c.1754G>C c.2352G>C (p.Arg784=) c.2514G>C (p.Arg838=) c.2436G>C (p.Arg812=) c.2433G>C (p.Arg811=) c.2430G>C (p.Arg810=) c.2394G>C (p.Arg798=) c.2313G>C (p.Arg771=) c.2232G>C (p.Arg744=) c.2151G>C (p.Arg717=) c.2148G>C (p.Arg716=) c.2073G>C (p.Arg691=) c.2070G>C (p.Arg690=) | |
17 | g.12992944C>T | CA498009637 | ELAC2 | c.2355G>A (p.Arg785=) c.2298G>A (p.Arg766=) c.2235G>A (p.Arg745=) n.2242G>A n.2184G>A n.3185G>A n.1901G>A c.1754G>A c.2352G>A (p.Arg784=) c.2514G>A (p.Arg838=) c.2436G>A (p.Arg812=) c.2433G>A (p.Arg811=) c.2430G>A (p.Arg810=) c.2394G>A (p.Arg798=) c.2313G>A (p.Arg771=) c.2232G>A (p.Arg744=) c.2151G>A (p.Arg717=) c.2148G>A (p.Arg716=) c.2073G>A (p.Arg691=) c.2070G>A (p.Arg690=) | gnomAD v4 |
17 | g.12992945C>A | CA398222241 | ELAC2 | c.2354G>T (p.Arg785Leu) c.2297G>T (p.Arg766Leu) c.2234G>T (p.Arg745Leu) n.2241G>T n.2183G>T n.3184G>T n.1900G>T c.1753G>T c.2351G>T (p.Arg784Leu) c.2513G>T (p.Arg838Leu) c.2435G>T (p.Arg812Leu) c.2432G>T (p.Arg811Leu) c.2429G>T (p.Arg810Leu) c.2393G>T (p.Arg798Leu) c.2312G>T (p.Arg771Leu) c.2231G>T (p.Arg744Leu) c.2150G>T (p.Arg717Leu) c.2147G>T (p.Arg716Leu) c.2072G>T (p.Arg691Leu) c.2069G>T (p.Arg690Leu) | gnomAD v4 |
17 | g.12992945C= | CA2248421582 | ELAC2 | c.2354G= (p.Arg785=) c.2297G= (p.Arg766=) c.2234G= (p.Arg745=) n.2241G= n.2183G= n.3184G= n.1900G= c.1753G= c.2351G= (p.Arg784=) c.2513G= (p.Arg838=) c.2435G= (p.Arg812=) c.2432G= (p.Arg811=) c.2429G= (p.Arg810=) c.2393G= (p.Arg798=) c.2312G= (p.Arg771=) c.2231G= (p.Arg744=) c.2150G= (p.Arg717=) c.2147G= (p.Arg716=) c.2072G= (p.Arg691=) c.2069G= (p.Arg690=) | |
17 | g.12992945C>G | CA398222242 | ELAC2 | c.2354G>C (p.Arg785Pro) c.2297G>C (p.Arg766Pro) c.2234G>C (p.Arg745Pro) n.2241G>C n.2183G>C n.3184G>C n.1900G>C c.1753G>C c.2351G>C (p.Arg784Pro) c.2513G>C (p.Arg838Pro) c.2435G>C (p.Arg812Pro) c.2432G>C (p.Arg811Pro) c.2429G>C (p.Arg810Pro) c.2393G>C (p.Arg798Pro) c.2312G>C (p.Arg771Pro) c.2231G>C (p.Arg744Pro) c.2150G>C (p.Arg717Pro) c.2147G>C (p.Arg716Pro) c.2072G>C (p.Arg691Pro) c.2069G>C (p.Arg690Pro) | |
17 | g.12992945C>T | CA398222243 | ELAC2 | c.2354G>A (p.Arg785Gln) c.2297G>A (p.Arg766Gln) c.2234G>A (p.Arg745Gln) n.2241G>A n.2183G>A n.3184G>A n.1900G>A c.1753G>A c.2351G>A (p.Arg784Gln) c.2513G>A (p.Arg838Gln) c.2435G>A (p.Arg812Gln) c.2432G>A (p.Arg811Gln) c.2429G>A (p.Arg810Gln) c.2393G>A (p.Arg798Gln) c.2312G>A (p.Arg771Gln) c.2231G>A (p.Arg744Gln) c.2150G>A (p.Arg717Gln) c.2147G>A (p.Arg716Gln) c.2072G>A (p.Arg691Gln) c.2069G>A (p.Arg690Gln) | dbSNP gnomAD v4 |
17 | g.12992946G>A | CA16615097 | ELAC2 | c.2353C>T (p.Arg785Trp) c.2296C>T (p.Arg766Trp) c.2233C>T (p.Arg745Trp) n.2240C>T n.2182C>T n.3183C>T n.1899C>T c.1752C>T c.2350C>T (p.Arg784Trp) c.2512C>T (p.Arg838Trp) c.2434C>T (p.Arg812Trp) c.2431C>T (p.Arg811Trp) c.2428C>T (p.Arg810Trp) c.2392C>T (p.Arg798Trp) c.2311C>T (p.Arg771Trp) c.2230C>T (p.Arg744Trp) c.2149C>T (p.Arg717Trp) c.2146C>T (p.Arg716Trp) c.2071C>T (p.Arg691Trp) c.2068C>T (p.Arg690Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.12992946G>C | CA398222244 | ELAC2 | c.2353C>G (p.Arg785Gly) c.2296C>G (p.Arg766Gly) c.2233C>G (p.Arg745Gly) n.2240C>G n.2182C>G n.3183C>G n.1899C>G c.1752C>G c.2350C>G (p.Arg784Gly) c.2512C>G (p.Arg838Gly) c.2434C>G (p.Arg812Gly) c.2431C>G (p.Arg811Gly) c.2428C>G (p.Arg810Gly) c.2392C>G (p.Arg798Gly) c.2311C>G (p.Arg771Gly) c.2230C>G (p.Arg744Gly) c.2149C>G (p.Arg717Gly) c.2146C>G (p.Arg716Gly) c.2071C>G (p.Arg691Gly) c.2068C>G (p.Arg690Gly) | dbSNP |
17 | g.12992946G= | CA2248421590 | ELAC2 | c.2353C= (p.Arg785=) c.2296C= (p.Arg766=) c.2233C= (p.Arg745=) n.2240C= n.2182C= n.3183C= n.1899C= c.1752C= c.2350C= (p.Arg784=) c.2512C= (p.Arg838=) c.2434C= (p.Arg812=) c.2431C= (p.Arg811=) c.2428C= (p.Arg810=) c.2392C= (p.Arg798=) c.2311C= (p.Arg771=) c.2230C= (p.Arg744=) c.2149C= (p.Arg717=) c.2146C= (p.Arg716=) c.2071C= (p.Arg691=) c.2068C= (p.Arg690=) | |
17 | g.12992946G>T | CA498009638 | ELAC2 | c.2353C>A (p.Arg785=) c.2296C>A (p.Arg766=) c.2233C>A (p.Arg745=) n.2240C>A n.2182C>A n.3183C>A n.1899C>A c.1752C>A c.2350C>A (p.Arg784=) c.2512C>A (p.Arg838=) c.2434C>A (p.Arg812=) c.2431C>A (p.Arg811=) c.2428C>A (p.Arg810=) c.2392C>A (p.Arg798=) c.2311C>A (p.Arg771=) c.2230C>A (p.Arg744=) c.2149C>A (p.Arg717=) c.2146C>A (p.Arg716=) c.2071C>A (p.Arg691=) c.2068C>A (p.Arg690=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.12992946_12992947insATC | CA8400822 | ELAC2 | c.2352_2353insGAT (p.Lys784_Arg785insAsp) c.2295_2296insGAT (p.Lys765_Arg766insAsp) c.2232_2233insGAT (p.Lys744_Arg745insAsp) n.2239_2240insGAT n.2181_2182insGAT n.3182_3183insGAT n.1898_1899insGAT c.1751_1752insGAT c.2349_2350insGAT (p.Lys783_Arg784insAsp) c.2511_2512insGAT (p.Lys837_Arg838insAsp) c.2433_2434insGAT (p.Lys811_Arg812insAsp) c.2430_2431insGAT (p.Lys810_Arg811insAsp) c.2427_2428insGAT (p.Lys809_Arg810insAsp) c.2391_2392insGAT (p.Lys797_Arg798insAsp) c.2310_2311insGAT (p.Lys770_Arg771insAsp) c.2229_2230insGAT (p.Lys743_Arg744insAsp) c.2148_2149insGAT (p.Lys716_Arg717insAsp) c.2145_2146insGAT (p.Lys715_Arg716insAsp) c.2070_2071insGAT (p.Lys690_Arg691insAsp) c.2067_2068insGAT (p.Lys689_Arg690insAsp) | dbSNP ExAC gnomAD v4 |
17 | g.12992947C>A | CA8400823 | ELAC2 | c.2352G>T (p.Lys784Asn) c.2295G>T (p.Lys765Asn) c.2232G>T (p.Lys744Asn) n.2239G>T n.2181G>T n.3182G>T n.1898G>T c.1751G>T c.2349G>T (p.Lys783Asn) c.2511G>T (p.Lys837Asn) c.2433G>T (p.Lys811Asn) c.2430G>T (p.Lys810Asn) c.2427G>T (p.Lys809Asn) c.2391G>T (p.Lys797Asn) c.2310G>T (p.Lys770Asn) c.2229G>T (p.Lys743Asn) c.2148G>T (p.Lys716Asn) c.2145G>T (p.Lys715Asn) c.2070G>T (p.Lys690Asn) c.2067G>T (p.Lys689Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.12992947C= | CA2248421596 | ELAC2 | c.2352G= (p.Lys784=) c.2295G= (p.Lys765=) c.2232G= (p.Lys744=) n.2239G= n.2181G= n.3182G= n.1898G= c.1751G= c.2349G= (p.Lys783=) c.2511G= (p.Lys837=) c.2433G= (p.Lys811=) c.2430G= (p.Lys810=) c.2427G= (p.Lys809=) c.2391G= (p.Lys797=) c.2310G= (p.Lys770=) c.2229G= (p.Lys743=) c.2148G= (p.Lys716=) c.2145G= (p.Lys715=) c.2070G= (p.Lys690=) c.2067G= (p.Lys689=) | |
17 | g.12992947C>G | CA398222245 | ELAC2 | c.2352G>C (p.Lys784Asn) c.2295G>C (p.Lys765Asn) c.2232G>C (p.Lys744Asn) n.2239G>C n.2181G>C n.3182G>C n.1898G>C c.1751G>C c.2349G>C (p.Lys783Asn) c.2511G>C (p.Lys837Asn) c.2433G>C (p.Lys811Asn) c.2430G>C (p.Lys810Asn) c.2427G>C (p.Lys809Asn) c.2391G>C (p.Lys797Asn) c.2310G>C (p.Lys770Asn) c.2229G>C (p.Lys743Asn) c.2148G>C (p.Lys716Asn) c.2145G>C (p.Lys715Asn) c.2070G>C (p.Lys690Asn) c.2067G>C (p.Lys689Asn) | |
17 | g.12992947C>T | CA498009639 | ELAC2 | c.2352G>A (p.Lys784=) c.2295G>A (p.Lys765=) c.2232G>A (p.Lys744=) n.2239G>A n.2181G>A n.3182G>A n.1898G>A c.1751G>A c.2349G>A (p.Lys783=) c.2511G>A (p.Lys837=) c.2433G>A (p.Lys811=) c.2430G>A (p.Lys810=) c.2427G>A (p.Lys809=) c.2391G>A (p.Lys797=) c.2310G>A (p.Lys770=) c.2229G>A (p.Lys743=) c.2148G>A (p.Lys716=) c.2145G>A (p.Lys715=) c.2070G>A (p.Lys690=) c.2067G>A (p.Lys689=) | |
17 | g.12992948T>A | CA398222246 | ELAC2 | c.2351A>T (p.Lys784Met) c.2294A>T (p.Lys765Met) c.2231A>T (p.Lys744Met) n.2238A>T n.2180A>T n.3181A>T n.1897A>T c.1750A>T c.2348A>T (p.Lys783Met) c.2510A>T (p.Lys837Met) c.2432A>T (p.Lys811Met) c.2429A>T (p.Lys810Met) c.2426A>T (p.Lys809Met) c.2390A>T (p.Lys797Met) c.2309A>T (p.Lys770Met) c.2228A>T (p.Lys743Met) c.2147A>T (p.Lys716Met) c.2144A>T (p.Lys715Met) c.2069A>T (p.Lys690Met) c.2066A>T (p.Lys689Met) | |
17 | g.12992948T>C | CA8400825 | ELAC2 | c.2351A>G (p.Lys784Arg) c.2294A>G (p.Lys765Arg) c.2231A>G (p.Lys744Arg) n.2238A>G n.2180A>G n.3181A>G n.1897A>G c.1750A>G c.2348A>G (p.Lys783Arg) c.2510A>G (p.Lys837Arg) c.2432A>G (p.Lys811Arg) c.2429A>G (p.Lys810Arg) c.2426A>G (p.Lys809Arg) c.2390A>G (p.Lys797Arg) c.2309A>G (p.Lys770Arg) c.2228A>G (p.Lys743Arg) c.2147A>G (p.Lys716Arg) c.2144A>G (p.Lys715Arg) c.2069A>G (p.Lys690Arg) c.2066A>G (p.Lys689Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992948T>G | CA398222247 | ELAC2 | c.2351A>C (p.Lys784Thr) c.2294A>C (p.Lys765Thr) c.2231A>C (p.Lys744Thr) n.2238A>C n.2180A>C n.3181A>C n.1897A>C c.1750A>C c.2348A>C (p.Lys783Thr) c.2510A>C (p.Lys837Thr) c.2432A>C (p.Lys811Thr) c.2429A>C (p.Lys810Thr) c.2426A>C (p.Lys809Thr) c.2390A>C (p.Lys797Thr) c.2309A>C (p.Lys770Thr) c.2228A>C (p.Lys743Thr) c.2147A>C (p.Lys716Thr) c.2144A>C (p.Lys715Thr) c.2069A>C (p.Lys690Thr) c.2066A>C (p.Lys689Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.12992948T= | CA2248421600 | ELAC2 | c.2351A= (p.Lys784=) c.2294A= (p.Lys765=) c.2231A= (p.Lys744=) n.2238A= n.2180A= n.3181A= n.1897A= c.1750A= c.2348A= (p.Lys783=) c.2510A= (p.Lys837=) c.2432A= (p.Lys811=) c.2429A= (p.Lys810=) c.2426A= (p.Lys809=) c.2390A= (p.Lys797=) c.2309A= (p.Lys770=) c.2228A= (p.Lys743=) c.2147A= (p.Lys716=) c.2144A= (p.Lys715=) c.2069A= (p.Lys690=) c.2066A= (p.Lys689=) | |
17 | g.12992948_12992949insCCAGGCCGCC | CA8400824 | ELAC2 | c.2350_2351insGGCGGCCTGG (p.Lys784ArgfsTer?) c.2293_2294insGGCGGCCTGG (p.Lys765ArgfsTer?) c.2230_2231insGGCGGCCTGG (p.Lys744ArgfsTer?) n.2237_2238insGGCGGCCTGG n.2179_2180insGGCGGCCTGG n.3180_3181insGGCGGCCTGG n.1896_1897insGGCGGCCTGG c.1749_1750insGGCGGCCTGG c.2347_2348insGGCGGCCTGG (p.Lys783ArgfsTer?) c.2509_2510insGGCGGCCTGG (p.Lys837ArgfsTer?) c.2431_2432insGGCGGCCTGG (p.Lys811ArgfsTer?) c.2428_2429insGGCGGCCTGG (p.Lys810ArgfsTer?) c.2425_2426insGGCGGCCTGG (p.Lys809ArgfsTer?) c.2389_2390insGGCGGCCTGG (p.Lys797ArgfsTer?) c.2308_2309insGGCGGCCTGG (p.Lys770ArgfsTer?) c.2227_2228insGGCGGCCTGG (p.Lys743ArgfsTer?) c.2146_2147insGGCGGCCTGG (p.Lys716ArgfsTer?) c.2143_2144insGGCGGCCTGG (p.Lys715ArgfsTer?) c.2068_2069insGGCGGCCTGG (p.Lys690ArgfsTer?) c.2065_2066insGGCGGCCTGG (p.Lys689ArgfsTer?) | dbSNP ExAC gnomAD v4 |
17 | g.12992949T>A | CA398222248 | ELAC2 | c.2350A>T (p.Lys784Ter) c.2293A>T (p.Lys765Ter) c.2230A>T (p.Lys744Ter) n.2237A>T n.2179A>T n.3180A>T n.1896A>T c.1749A>T c.2347A>T (p.Lys783Ter) c.2509A>T (p.Lys837Ter) c.2431A>T (p.Lys811Ter) c.2428A>T (p.Lys810Ter) c.2425A>T (p.Lys809Ter) c.2389A>T (p.Lys797Ter) c.2308A>T (p.Lys770Ter) c.2227A>T (p.Lys743Ter) c.2146A>T (p.Lys716Ter) c.2143A>T (p.Lys715Ter) c.2068A>T (p.Lys690Ter) c.2065A>T (p.Lys689Ter) | |
17 | g.12992949T>C | CA8400827 | ELAC2 | c.2350A>G (p.Lys784Glu) c.2293A>G (p.Lys765Glu) c.2230A>G (p.Lys744Glu) n.2237A>G n.2179A>G n.3180A>G n.1896A>G c.1749A>G c.2347A>G (p.Lys783Glu) c.2509A>G (p.Lys837Glu) c.2431A>G (p.Lys811Glu) c.2428A>G (p.Lys810Glu) c.2425A>G (p.Lys809Glu) c.2389A>G (p.Lys797Glu) c.2308A>G (p.Lys770Glu) c.2227A>G (p.Lys743Glu) c.2146A>G (p.Lys716Glu) c.2143A>G (p.Lys715Glu) c.2068A>G (p.Lys690Glu) c.2065A>G (p.Lys689Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.12992949T>G | CA398222249 | ELAC2 | c.2350A>C (p.Lys784Gln) c.2293A>C (p.Lys765Gln) c.2230A>C (p.Lys744Gln) n.2237A>C n.2179A>C n.3180A>C n.1896A>C c.1749A>C c.2347A>C (p.Lys783Gln) c.2509A>C (p.Lys837Gln) c.2431A>C (p.Lys811Gln) c.2428A>C (p.Lys810Gln) c.2425A>C (p.Lys809Gln) c.2389A>C (p.Lys797Gln) c.2308A>C (p.Lys770Gln) c.2227A>C (p.Lys743Gln) c.2146A>C (p.Lys716Gln) c.2143A>C (p.Lys715Gln) c.2068A>C (p.Lys690Gln) c.2065A>C (p.Lys689Gln) | |
17 | g.12992949T= | CA2248421607 | ELAC2 | c.2350A= (p.Lys784=) c.2293A= (p.Lys765=) c.2230A= (p.Lys744=) n.2237A= n.2179A= n.3180A= n.1896A= c.1749A= c.2347A= (p.Lys783=) c.2509A= (p.Lys837=) c.2431A= (p.Lys811=) c.2428A= (p.Lys810=) c.2425A= (p.Lys809=) c.2389A= (p.Lys797=) c.2308A= (p.Lys770=) c.2227A= (p.Lys743=) c.2146A= (p.Lys716=) c.2143A= (p.Lys715=) c.2068A= (p.Lys690=) c.2065A= (p.Lys689=) | |
17 | g.12992949_12992961delinsTCTCCCTGCGCTC | CA2248421605 | ELAC2 | c.2338_2350delinsGAGCGCAGGGAGA (p.Glu780=) c.2281_2293delinsGAGCGCAGGGAGA (p.Glu761=) c.2218_2230delinsGAGCGCAGGGAGA (p.Glu740=) n.2225_2237delinsGAGCGCAGGGAGA n.2167_2179delinsGAGCGCAGGGAGA n.3168_3180delinsGAGCGCAGGGAGA n.1884_1896delinsGAGCGCAGGGAGA c.1737_1749delinsGAGCGCAGGGAGA c.2335_2347delinsGAGCGCAGGGAGA (p.Glu779=) c.2497_2509delinsGAGCGCAGGGAGA (p.Glu833=) c.2419_2431delinsGAGCGCAGGGAGA (p.Glu807=) c.2416_2428delinsGAGCGCAGGGAGA (p.Glu806=) c.2413_2425delinsGAGCGCAGGGAGA (p.Glu805=) c.2377_2389delinsGAGCGCAGGGAGA (p.Glu793=) c.2296_2308delinsGAGCGCAGGGAGA (p.Glu766=) c.2215_2227delinsGAGCGCAGGGAGA (p.Glu739=) c.2134_2146delinsGAGCGCAGGGAGA (p.Glu712=) c.2131_2143delinsGAGCGCAGGGAGA (p.Glu711=) c.2056_2068delinsGAGCGCAGGGAGA (p.Glu686=) c.2053_2065delinsGAGCGCAGGGAGA (p.Glu685=) | |
17 | g.12992949_12992950insGCCAG | CA8400826 | ELAC2 | c.2349_2350insCTGGC (p.Lys784LeufsTer?) c.2292_2293insCTGGC (p.Lys765LeufsTer?) c.2229_2230insCTGGC (p.Lys744LeufsTer?) n.2236_2237insCTGGC n.2178_2179insCTGGC n.3179_3180insCTGGC n.1895_1896insCTGGC c.1748_1749insCTGGC c.2346_2347insCTGGC (p.Lys783LeufsTer?) c.2508_2509insCTGGC (p.Lys837LeufsTer?) c.2430_2431insCTGGC (p.Lys811LeufsTer?) c.2427_2428insCTGGC (p.Lys810LeufsTer?) c.2424_2425insCTGGC (p.Lys809LeufsTer?) c.2388_2389insCTGGC (p.Lys797LeufsTer?) c.2307_2308insCTGGC (p.Lys770LeufsTer?) c.2226_2227insCTGGC (p.Lys743LeufsTer?) c.2145_2146insCTGGC (p.Lys716LeufsTer?) c.2142_2143insCTGGC (p.Lys715LeufsTer?) c.2067_2068insCTGGC (p.Lys690LeufsTer?) c.2064_2065insCTGGC (p.Lys689LeufsTer?) | dbSNP ExAC gnomAD v4 |
17 | g.12992950C>A | CA398222250 | ELAC2 | c.2349G>T (p.Glu783Asp) c.2292G>T (p.Glu764Asp) c.2229G>T (p.Glu743Asp) n.2236G>T n.2178G>T n.3179G>T n.1895G>T c.1748G>T c.2346G>T (p.Glu782Asp) c.2508G>T (p.Glu836Asp) c.2430G>T (p.Glu810Asp) c.2427G>T (p.Glu809Asp) c.2424G>T (p.Glu808Asp) c.2388G>T (p.Glu796Asp) c.2307G>T (p.Glu769Asp) c.2226G>T (p.Glu742Asp) c.2145G>T (p.Glu715Asp) c.2142G>T (p.Glu714Asp) c.2067G>T (p.Glu689Asp) c.2064G>T (p.Glu688Asp) | |
17 | g.12992950C>G | CA398222251 | ELAC2 | c.2349G>C (p.Glu783Asp) c.2292G>C (p.Glu764Asp) c.2229G>C (p.Glu743Asp) n.2236G>C n.2178G>C n.3179G>C n.1895G>C c.1748G>C c.2346G>C (p.Glu782Asp) c.2508G>C (p.Glu836Asp) c.2430G>C (p.Glu810Asp) c.2427G>C (p.Glu809Asp) c.2424G>C (p.Glu808Asp) c.2388G>C (p.Glu796Asp) c.2307G>C (p.Glu769Asp) c.2226G>C (p.Glu742Asp) c.2145G>C (p.Glu715Asp) c.2142G>C (p.Glu714Asp) c.2067G>C (p.Glu689Asp) c.2064G>C (p.Glu688Asp) | |
17 | g.12992950C>T | CA498009640 | ELAC2 | c.2349G>A (p.Glu783=) c.2292G>A (p.Glu764=) c.2229G>A (p.Glu743=) n.2236G>A n.2178G>A n.3179G>A n.1895G>A c.1748G>A c.2346G>A (p.Glu782=) c.2508G>A (p.Glu836=) c.2430G>A (p.Glu810=) c.2427G>A (p.Glu809=) c.2424G>A (p.Glu808=) c.2388G>A (p.Glu796=) c.2307G>A (p.Glu769=) c.2226G>A (p.Glu742=) c.2145G>A (p.Glu715=) c.2142G>A (p.Glu714=) c.2067G>A (p.Glu689=) c.2064G>A (p.Glu688=) | gnomAD v4 |
17 | g.12992954_12992965del | CA625311401 | ELAC2 | c.2338_2349del (p.Glu780_Glu783del) c.2281_2292del (p.Glu761_Glu764del) c.2218_2229del (p.Glu740_Glu743del) n.2225_2236del n.2167_2178del n.3168_3179del n.1884_1895del c.1737_1748del c.2335_2346del (p.Glu779_Glu782del) c.2497_2508del (p.Glu833_Glu836del) c.2419_2430del (p.Glu807_Glu810del) c.2416_2427del (p.Glu806_Glu809del) c.2413_2424del (p.Glu805_Glu808del) c.2377_2388del (p.Glu793_Glu796del) c.2296_2307del (p.Glu766_Glu769del) c.2215_2226del (p.Glu739_Glu742del) c.2134_2145del (p.Glu712_Glu715del) c.2131_2142del (p.Glu711_Glu714del) c.2056_2067del (p.Glu686_Glu689del) c.2053_2064del (p.Glu685_Glu688del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992951T>A | CA398222252 | ELAC2 | c.2348A>T (p.Glu783Val) c.2291A>T (p.Glu764Val) c.2228A>T (p.Glu743Val) n.2235A>T n.2177A>T n.3178A>T n.1894A>T c.1747A>T c.2345A>T (p.Glu782Val) c.2507A>T (p.Glu836Val) c.2429A>T (p.Glu810Val) c.2426A>T (p.Glu809Val) c.2423A>T (p.Glu808Val) c.2387A>T (p.Glu796Val) c.2306A>T (p.Glu769Val) c.2225A>T (p.Glu742Val) c.2144A>T (p.Glu715Val) c.2141A>T (p.Glu714Val) c.2066A>T (p.Glu689Val) c.2063A>T (p.Glu688Val) | |
17 | g.12992951T>C | CA398222254 | ELAC2 | c.2348A>G (p.Glu783Gly) c.2291A>G (p.Glu764Gly) c.2228A>G (p.Glu743Gly) n.2235A>G n.2177A>G n.3178A>G n.1894A>G c.1747A>G c.2345A>G (p.Glu782Gly) c.2507A>G (p.Glu836Gly) c.2429A>G (p.Glu810Gly) c.2426A>G (p.Glu809Gly) c.2423A>G (p.Glu808Gly) c.2387A>G (p.Glu796Gly) c.2306A>G (p.Glu769Gly) c.2225A>G (p.Glu742Gly) c.2144A>G (p.Glu715Gly) c.2141A>G (p.Glu714Gly) c.2066A>G (p.Glu689Gly) c.2063A>G (p.Glu688Gly) | gnomAD v4 |
17 | g.12992951T>G | CA398222253 | ELAC2 | c.2348A>C (p.Glu783Ala) c.2291A>C (p.Glu764Ala) c.2228A>C (p.Glu743Ala) n.2235A>C n.2177A>C n.3178A>C n.1894A>C c.1747A>C c.2345A>C (p.Glu782Ala) c.2507A>C (p.Glu836Ala) c.2429A>C (p.Glu810Ala) c.2426A>C (p.Glu809Ala) c.2423A>C (p.Glu808Ala) c.2387A>C (p.Glu796Ala) c.2306A>C (p.Glu769Ala) c.2225A>C (p.Glu742Ala) c.2144A>C (p.Glu715Ala) c.2141A>C (p.Glu714Ala) c.2066A>C (p.Glu689Ala) c.2063A>C (p.Glu688Ala) | |
17 | g.12992952C>A | CA398222255 | ELAC2 | c.2347G>T (p.Glu783Ter) c.2290G>T (p.Glu764Ter) c.2227G>T (p.Glu743Ter) n.2234G>T n.2176G>T n.3177G>T n.1893G>T c.1746G>T c.2344G>T (p.Glu782Ter) c.2506G>T (p.Glu836Ter) c.2428G>T (p.Glu810Ter) c.2425G>T (p.Glu809Ter) c.2422G>T (p.Glu808Ter) c.2386G>T (p.Glu796Ter) c.2305G>T (p.Glu769Ter) c.2224G>T (p.Glu742Ter) c.2143G>T (p.Glu715Ter) c.2140G>T (p.Glu714Ter) c.2065G>T (p.Glu689Ter) c.2062G>T (p.Glu688Ter) | |
17 | g.12992952C= | CA2248421615 | ELAC2 | c.2347G= (p.Glu783=) c.2290G= (p.Glu764=) c.2227G= (p.Glu743=) n.2234G= n.2176G= n.3177G= n.1893G= c.1746G= c.2344G= (p.Glu782=) c.2506G= (p.Glu836=) c.2428G= (p.Glu810=) c.2425G= (p.Glu809=) c.2422G= (p.Glu808=) c.2386G= (p.Glu796=) c.2305G= (p.Glu769=) c.2224G= (p.Glu742=) c.2143G= (p.Glu715=) c.2140G= (p.Glu714=) c.2065G= (p.Glu689=) c.2062G= (p.Glu688=) | |
17 | g.12992952C>G | CA398222256 | ELAC2 | c.2347G>C (p.Glu783Gln) c.2290G>C (p.Glu764Gln) c.2227G>C (p.Glu743Gln) n.2234G>C n.2176G>C n.3177G>C n.1893G>C c.1746G>C c.2344G>C (p.Glu782Gln) c.2506G>C (p.Glu836Gln) c.2428G>C (p.Glu810Gln) c.2425G>C (p.Glu809Gln) c.2422G>C (p.Glu808Gln) c.2386G>C (p.Glu796Gln) c.2305G>C (p.Glu769Gln) c.2224G>C (p.Glu742Gln) c.2143G>C (p.Glu715Gln) c.2140G>C (p.Glu714Gln) c.2065G>C (p.Glu689Gln) c.2062G>C (p.Glu688Gln) | COSMIC |
17 | g.12992952C>T | CA398222257 | ELAC2 | c.2347G>A (p.Glu783Lys) c.2290G>A (p.Glu764Lys) c.2227G>A (p.Glu743Lys) n.2234G>A n.2176G>A n.3177G>A n.1893G>A c.1746G>A c.2344G>A (p.Glu782Lys) c.2506G>A (p.Glu836Lys) c.2428G>A (p.Glu810Lys) c.2425G>A (p.Glu809Lys) c.2422G>A (p.Glu808Lys) c.2386G>A (p.Glu796Lys) c.2305G>A (p.Glu769Lys) c.2224G>A (p.Glu742Lys) c.2143G>A (p.Glu715Lys) c.2140G>A (p.Glu714Lys) c.2065G>A (p.Glu689Lys) c.2062G>A (p.Glu688Lys) | |
17 | g.12992953C>A | CA398222258 | ELAC2 | c.2346G>T (p.Arg782Ser) c.2289G>T (p.Arg763Ser) c.2226G>T (p.Arg742Ser) n.2233G>T n.2175G>T n.3176G>T n.1892G>T c.1745G>T c.2343G>T (p.Arg781Ser) c.2505G>T (p.Arg835Ser) c.2427G>T (p.Arg809Ser) c.2424G>T (p.Arg808Ser) c.2421G>T (p.Arg807Ser) c.2385G>T (p.Arg795Ser) c.2304G>T (p.Arg768Ser) c.2223G>T (p.Arg741Ser) c.2142G>T (p.Arg714Ser) c.2139G>T (p.Arg713Ser) c.2064G>T (p.Arg688Ser) c.2061G>T (p.Arg687Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.12992953C= | CA2248421619 | ELAC2 | c.2346G= (p.Arg782=) c.2289G= (p.Arg763=) c.2226G= (p.Arg742=) n.2233G= n.2175G= n.3176G= n.1892G= c.1745G= c.2343G= (p.Arg781=) c.2505G= (p.Arg835=) c.2427G= (p.Arg809=) c.2424G= (p.Arg808=) c.2421G= (p.Arg807=) c.2385G= (p.Arg795=) c.2304G= (p.Arg768=) c.2223G= (p.Arg741=) c.2142G= (p.Arg714=) c.2139G= (p.Arg713=) c.2064G= (p.Arg688=) c.2061G= (p.Arg687=) | |
17 | g.12992953C>G | CA398222259 | ELAC2 | c.2346G>C (p.Arg782Ser) c.2289G>C (p.Arg763Ser) c.2226G>C (p.Arg742Ser) n.2233G>C n.2175G>C n.3176G>C n.1892G>C c.1745G>C c.2343G>C (p.Arg781Ser) c.2505G>C (p.Arg835Ser) c.2427G>C (p.Arg809Ser) c.2424G>C (p.Arg808Ser) c.2421G>C (p.Arg807Ser) c.2385G>C (p.Arg795Ser) c.2304G>C (p.Arg768Ser) c.2223G>C (p.Arg741Ser) c.2142G>C (p.Arg714Ser) c.2139G>C (p.Arg713Ser) c.2064G>C (p.Arg688Ser) c.2061G>C (p.Arg687Ser) | |
17 | g.12992953C>T | CA498009641 | ELAC2 | c.2346G>A (p.Arg782=) c.2289G>A (p.Arg763=) c.2226G>A (p.Arg742=) n.2233G>A n.2175G>A n.3176G>A n.1892G>A c.1745G>A c.2343G>A (p.Arg781=) c.2505G>A (p.Arg835=) c.2427G>A (p.Arg809=) c.2424G>A (p.Arg808=) c.2421G>A (p.Arg807=) c.2385G>A (p.Arg795=) c.2304G>A (p.Arg768=) c.2223G>A (p.Arg741=) c.2142G>A (p.Arg714=) c.2139G>A (p.Arg713=) c.2064G>A (p.Arg688=) c.2061G>A (p.Arg687=) | |
17 | g.12992953_12992954insAGGCCGC | CA8400828 | ELAC2 | c.2346_2347insCGGCCTG (p.Glu783ArgfsTer?) c.2289_2290insCGGCCTG (p.Glu764ArgfsTer?) c.2226_2227insCGGCCTG (p.Glu743ArgfsTer?) n.2233_2234insCGGCCTG n.2175_2176insCGGCCTG n.3176_3177insCGGCCTG n.1892_1893insCGGCCTG c.1745_1746insCGGCCTG c.2343_2344insCGGCCTG (p.Glu782ArgfsTer?) c.2505_2506insCGGCCTG (p.Glu836ArgfsTer?) c.2427_2428insCGGCCTG (p.Glu810ArgfsTer?) c.2424_2425insCGGCCTG (p.Glu809ArgfsTer?) c.2421_2422insCGGCCTG (p.Glu808ArgfsTer?) c.2385_2386insCGGCCTG (p.Glu796ArgfsTer?) c.2304_2305insCGGCCTG (p.Glu769ArgfsTer?) c.2223_2224insCGGCCTG (p.Glu742ArgfsTer?) c.2142_2143insCGGCCTG (p.Glu715ArgfsTer?) c.2139_2140insCGGCCTG (p.Glu714ArgfsTer?) c.2064_2065insCGGCCTG (p.Glu689ArgfsTer?) c.2061_2062insCGGCCTG (p.Glu688ArgfsTer?) | dbSNP ExAC gnomAD v4 |
17 | g.12992953_12992954insAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCAC | CA625311402 | ELAC2 | c.2346_2347insTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTG (p.Glu783CysfsTer?) c.2289_2290insTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTG (p.Glu764CysfsTer?) c.2226_2227insTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTG (p.Glu743CysfsTer?) n.2233_2234insTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTG n.2175_2176insTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTG n.3176_3177insTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTG n.1892_1893insTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTG c.1745_1746insTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTG c.2343_2344insTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTG (p.Glu782CysfsTer?) c.2505_2506insTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTG (p.Glu836CysfsTer?) c.2427_2428insTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTG (p.Glu810CysfsTer?) c.2424_2425insTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTG (p.Glu809CysfsTer?) c.2421_2422insTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTG (p.Glu808CysfsTer?) c.2385_2386insTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTG (p.Glu796CysfsTer?) c.2304_2305insTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTG (p.Glu769CysfsTer?) c.2223_2224insTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTG (p.Glu742CysfsTer?) c.2142_2143insTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTG (p.Glu715CysfsTer?) c.2139_2140insTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTG (p.Glu714CysfsTer?) c.2064_2065insTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTG (p.Glu689CysfsTer?) c.2061_2062insTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTG (p.Glu688CysfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.12992953_12992954insAGG | CA2636193341 | ELAC2 | c.2345_2346insCCT (p.Arg782delinsSerLeu) c.2288_2289insCCT (p.Arg763delinsSerLeu) c.2225_2226insCCT (p.Arg742delinsSerLeu) n.2232_2233insCCT n.2174_2175insCCT n.3175_3176insCCT n.1891_1892insCCT c.1744_1745insCCT c.2342_2343insCCT (p.Arg781delinsSerLeu) c.2504_2505insCCT (p.Arg835delinsSerLeu) c.2426_2427insCCT (p.Arg809delinsSerLeu) c.2423_2424insCCT (p.Arg808delinsSerLeu) c.2420_2421insCCT (p.Arg807delinsSerLeu) c.2384_2385insCCT (p.Arg795delinsSerLeu) c.2303_2304insCCT (p.Arg768delinsSerLeu) c.2222_2223insCCT (p.Arg741delinsSerLeu) c.2141_2142insCCT (p.Arg714delinsSerLeu) c.2138_2139insCCT (p.Arg713delinsSerLeu) c.2063_2064insCCT (p.Arg688delinsSerLeu) c.2060_2061insCCT (p.Arg687delinsSerLeu) | gnomAD v4 |
17 | g.12992954C>A | CA398222260 | ELAC2 | c.2345G>T (p.Arg782Met) c.2288G>T (p.Arg763Met) c.2225G>T (p.Arg742Met) n.2232G>T n.2174G>T n.3175G>T n.1891G>T c.1744G>T c.2342G>T (p.Arg781Met) c.2504G>T (p.Arg835Met) c.2426G>T (p.Arg809Met) c.2423G>T (p.Arg808Met) c.2420G>T (p.Arg807Met) c.2384G>T (p.Arg795Met) c.2303G>T (p.Arg768Met) c.2222G>T (p.Arg741Met) c.2141G>T (p.Arg714Met) c.2138G>T (p.Arg713Met) c.2063G>T (p.Arg688Met) c.2060G>T (p.Arg687Met) | gnomAD v4 |
17 | g.12992954C= | CA2248421622 | ELAC2 | c.2345G= (p.Arg782=) c.2288G= (p.Arg763=) c.2225G= (p.Arg742=) n.2232G= n.2174G= n.3175G= n.1891G= c.1744G= c.2342G= (p.Arg781=) c.2504G= (p.Arg835=) c.2426G= (p.Arg809=) c.2423G= (p.Arg808=) c.2420G= (p.Arg807=) c.2384G= (p.Arg795=) c.2303G= (p.Arg768=) c.2222G= (p.Arg741=) c.2141G= (p.Arg714=) c.2138G= (p.Arg713=) c.2063G= (p.Arg688=) c.2060G= (p.Arg687=) | |
17 | g.12992954C>G | CA288075069 | ELAC2 | c.2345G>C (p.Arg782Thr) c.2288G>C (p.Arg763Thr) c.2225G>C (p.Arg742Thr) n.2232G>C n.2174G>C n.3175G>C n.1891G>C c.1744G>C c.2342G>C (p.Arg781Thr) c.2504G>C (p.Arg835Thr) c.2426G>C (p.Arg809Thr) c.2423G>C (p.Arg808Thr) c.2420G>C (p.Arg807Thr) c.2384G>C (p.Arg795Thr) c.2303G>C (p.Arg768Thr) c.2222G>C (p.Arg741Thr) c.2141G>C (p.Arg714Thr) c.2138G>C (p.Arg713Thr) c.2063G>C (p.Arg688Thr) c.2060G>C (p.Arg687Thr) | dbSNP gnomAD v4 |
17 | g.12992954C>T | CA398222261 | ELAC2 | c.2345G>A (p.Arg782Lys) c.2288G>A (p.Arg763Lys) c.2225G>A (p.Arg742Lys) n.2232G>A n.2174G>A n.3175G>A n.1891G>A c.1744G>A c.2342G>A (p.Arg781Lys) c.2504G>A (p.Arg835Lys) c.2426G>A (p.Arg809Lys) c.2423G>A (p.Arg808Lys) c.2420G>A (p.Arg807Lys) c.2384G>A (p.Arg795Lys) c.2303G>A (p.Arg768Lys) c.2222G>A (p.Arg741Lys) c.2141G>A (p.Arg714Lys) c.2138G>A (p.Arg713Lys) c.2063G>A (p.Arg688Lys) c.2060G>A (p.Arg687Lys) | dbSNP |
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.12992955T>A | CA398222262 | ELAC2 | c.2344A>T (p.Arg782Trp) c.2287A>T (p.Arg763Trp) c.2224A>T (p.Arg742Trp) n.2231A>T n.2173A>T n.3174A>T n.1890A>T c.1743A>T c.2341A>T (p.Arg781Trp) c.2503A>T (p.Arg835Trp) c.2425A>T (p.Arg809Trp) c.2422A>T (p.Arg808Trp) c.2419A>T (p.Arg807Trp) c.2383A>T (p.Arg795Trp) c.2302A>T (p.Arg768Trp) c.2221A>T (p.Arg741Trp) c.2140A>T (p.Arg714Trp) c.2137A>T (p.Arg713Trp) c.2062A>T (p.Arg688Trp) c.2059A>T (p.Arg687Trp) | gnomAD v4 |
17 | g.12992955T>C | CA398222263 | ELAC2 | c.2344A>G (p.Arg782Gly) c.2287A>G (p.Arg763Gly) c.2224A>G (p.Arg742Gly) n.2231A>G n.2173A>G n.3174A>G n.1890A>G c.1743A>G c.2341A>G (p.Arg781Gly) c.2503A>G (p.Arg835Gly) c.2425A>G (p.Arg809Gly) c.2422A>G (p.Arg808Gly) c.2419A>G (p.Arg807Gly) c.2383A>G (p.Arg795Gly) c.2302A>G (p.Arg768Gly) c.2221A>G (p.Arg741Gly) c.2140A>G (p.Arg714Gly) c.2137A>G (p.Arg713Gly) c.2062A>G (p.Arg688Gly) c.2059A>G (p.Arg687Gly) | dbSNP gnomAD v4 |
17 | g.12992955T>G | CA498009644 | ELAC2 | c.2344A>C (p.Arg782=) c.2287A>C (p.Arg763=) c.2224A>C (p.Arg742=) n.2231A>C n.2173A>C n.3174A>C n.1890A>C c.1743A>C c.2341A>C (p.Arg781=) c.2503A>C (p.Arg835=) c.2425A>C (p.Arg809=) c.2422A>C (p.Arg808=) c.2419A>C (p.Arg807=) c.2383A>C (p.Arg795=) c.2302A>C (p.Arg768=) c.2221A>C (p.Arg741=) c.2140A>C (p.Arg714=) c.2137A>C (p.Arg713=) c.2062A>C (p.Arg688=) c.2059A>C (p.Arg687=) | gnomAD v4 |
17 | g.12992955T= | CA2248421625 | ELAC2 | c.2344A= (p.Arg782=) c.2287A= (p.Arg763=) c.2224A= (p.Arg742=) n.2231A= n.2173A= n.3174A= n.1890A= c.1743A= c.2341A= (p.Arg781=) c.2503A= (p.Arg835=) c.2425A= (p.Arg809=) c.2422A= (p.Arg808=) c.2419A= (p.Arg807=) c.2383A= (p.Arg795=) c.2302A= (p.Arg768=) c.2221A= (p.Arg741=) c.2140A= (p.Arg714=) c.2137A= (p.Arg713=) c.2062A= (p.Arg688=) c.2059A= (p.Arg687=) | |
17 | g.12992956G>A | CA498009645 | ELAC2 | c.2343C>T (p.Arg781=) c.2286C>T (p.Arg762=) c.2223C>T (p.Arg741=) n.2230C>T n.2172C>T n.3173C>T n.1889C>T c.1742C>T c.2340C>T (p.Arg780=) c.2502C>T (p.Arg834=) c.2424C>T (p.Arg808=) c.2421C>T (p.Arg807=) c.2418C>T (p.Arg806=) c.2382C>T (p.Arg794=) c.2301C>T (p.Arg767=) c.2220C>T (p.Arg740=) c.2139C>T (p.Arg713=) c.2136C>T (p.Arg712=) c.2061C>T (p.Arg687=) c.2058C>T (p.Arg686=) | |
17 | g.12992956G>C | CA498009646 | ELAC2 | c.2343C>G (p.Arg781=) c.2286C>G (p.Arg762=) c.2223C>G (p.Arg741=) n.2230C>G n.2172C>G n.3173C>G n.1889C>G c.1742C>G c.2340C>G (p.Arg780=) c.2502C>G (p.Arg834=) c.2424C>G (p.Arg808=) c.2421C>G (p.Arg807=) c.2418C>G (p.Arg806=) c.2382C>G (p.Arg794=) c.2301C>G (p.Arg767=) c.2220C>G (p.Arg740=) c.2139C>G (p.Arg713=) c.2136C>G (p.Arg712=) c.2061C>G (p.Arg687=) c.2058C>G (p.Arg686=) | |
17 | g.12992956G>T | CA498009647 | ELAC2 | c.2343C>A (p.Arg781=) c.2286C>A (p.Arg762=) c.2223C>A (p.Arg741=) n.2230C>A n.2172C>A n.3173C>A n.1889C>A c.1742C>A c.2340C>A (p.Arg780=) c.2502C>A (p.Arg834=) c.2424C>A (p.Arg808=) c.2421C>A (p.Arg807=) c.2418C>A (p.Arg806=) c.2382C>A (p.Arg794=) c.2301C>A (p.Arg767=) c.2220C>A (p.Arg740=) c.2139C>A (p.Arg713=) c.2136C>A (p.Arg712=) c.2061C>A (p.Arg687=) c.2058C>A (p.Arg686=) | gnomAD v4 |
17 | g.12992957C>A | CA398222264 | ELAC2 | c.2342G>T (p.Arg781Leu) c.2285G>T (p.Arg762Leu) c.2222G>T (p.Arg741Leu) n.2229G>T n.2171G>T n.3172G>T n.1888G>T c.1741G>T c.2339G>T (p.Arg780Leu) c.2501G>T (p.Arg834Leu) c.2423G>T (p.Arg808Leu) c.2420G>T (p.Arg807Leu) c.2417G>T (p.Arg806Leu) c.2381G>T (p.Arg794Leu) c.2300G>T (p.Arg767Leu) c.2219G>T (p.Arg740Leu) c.2138G>T (p.Arg713Leu) c.2135G>T (p.Arg712Leu) c.2060G>T (p.Arg687Leu) c.2057G>T (p.Arg686Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992957C= | CA2248421630 | ELAC2 | c.2342G= (p.Arg781=) c.2285G= (p.Arg762=) c.2222G= (p.Arg741=) n.2229G= n.2171G= n.3172G= n.1888G= c.1741G= c.2339G= (p.Arg780=) c.2501G= (p.Arg834=) c.2423G= (p.Arg808=) c.2420G= (p.Arg807=) c.2417G= (p.Arg806=) c.2381G= (p.Arg794=) c.2300G= (p.Arg767=) c.2219G= (p.Arg740=) c.2138G= (p.Arg713=) c.2135G= (p.Arg712=) c.2060G= (p.Arg687=) c.2057G= (p.Arg686=) | |
17 | g.12992957C>G | CA398222265 | ELAC2 | c.2342G>C (p.Arg781Pro) c.2285G>C (p.Arg762Pro) c.2222G>C (p.Arg741Pro) n.2229G>C n.2171G>C n.3172G>C n.1888G>C c.1741G>C c.2339G>C (p.Arg780Pro) c.2501G>C (p.Arg834Pro) c.2423G>C (p.Arg808Pro) c.2420G>C (p.Arg807Pro) c.2417G>C (p.Arg806Pro) c.2381G>C (p.Arg794Pro) c.2300G>C (p.Arg767Pro) c.2219G>C (p.Arg740Pro) c.2138G>C (p.Arg713Pro) c.2135G>C (p.Arg712Pro) c.2060G>C (p.Arg687Pro) c.2057G>C (p.Arg686Pro) | gnomAD v4 |
17 | g.12992957C>T | CA117235 | ELAC2 | c.2342G>A (p.Arg781His) c.2285G>A (p.Arg762His) c.2222G>A (p.Arg741His) n.2229G>A n.2171G>A n.3172G>A n.1888G>A c.1741G>A c.2339G>A (p.Arg780His) c.2501G>A (p.Arg834His) c.2423G>A (p.Arg808His) c.2420G>A (p.Arg807His) c.2417G>A (p.Arg806His) c.2381G>A (p.Arg794His) c.2300G>A (p.Arg767His) c.2219G>A (p.Arg740His) c.2138G>A (p.Arg713His) c.2135G>A (p.Arg712His) c.2060G>A (p.Arg687His) c.2057G>A (p.Arg686His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.12992958G>A | CA8400829 | ELAC2 | c.2341C>T (p.Arg781Cys) c.2284C>T (p.Arg762Cys) c.2221C>T (p.Arg741Cys) n.2228C>T n.2170C>T n.3171C>T n.1887C>T c.1740C>T c.2338C>T (p.Arg780Cys) c.2500C>T (p.Arg834Cys) c.2422C>T (p.Arg808Cys) c.2419C>T (p.Arg807Cys) c.2416C>T (p.Arg806Cys) c.2380C>T (p.Arg794Cys) c.2299C>T (p.Arg767Cys) c.2218C>T (p.Arg740Cys) c.2137C>T (p.Arg713Cys) c.2134C>T (p.Arg712Cys) c.2059C>T (p.Arg687Cys) c.2056C>T (p.Arg686Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992958G>C | CA398222266 | ELAC2 | c.2341C>G (p.Arg781Gly) c.2284C>G (p.Arg762Gly) c.2221C>G (p.Arg741Gly) n.2228C>G n.2170C>G n.3171C>G n.1887C>G c.1740C>G c.2338C>G (p.Arg780Gly) c.2500C>G (p.Arg834Gly) c.2422C>G (p.Arg808Gly) c.2419C>G (p.Arg807Gly) c.2416C>G (p.Arg806Gly) c.2380C>G (p.Arg794Gly) c.2299C>G (p.Arg767Gly) c.2218C>G (p.Arg740Gly) c.2137C>G (p.Arg713Gly) c.2134C>G (p.Arg712Gly) c.2059C>G (p.Arg687Gly) c.2056C>G (p.Arg686Gly) | |
17 | g.12992958G= | CA2248421641 | ELAC2 | c.2341C= (p.Arg781=) c.2284C= (p.Arg762=) c.2221C= (p.Arg741=) n.2228C= n.2170C= n.3171C= n.1887C= c.1740C= c.2338C= (p.Arg780=) c.2500C= (p.Arg834=) c.2422C= (p.Arg808=) c.2419C= (p.Arg807=) c.2416C= (p.Arg806=) c.2380C= (p.Arg794=) c.2299C= (p.Arg767=) c.2218C= (p.Arg740=) c.2137C= (p.Arg713=) c.2134C= (p.Arg712=) c.2059C= (p.Arg687=) c.2056C= (p.Arg686=) | |
17 | g.12992958G>T | CA398222267 | ELAC2 | c.2341C>A (p.Arg781Ser) c.2284C>A (p.Arg762Ser) c.2221C>A (p.Arg741Ser) n.2228C>A n.2170C>A n.3171C>A n.1887C>A c.1740C>A c.2338C>A (p.Arg780Ser) c.2500C>A (p.Arg834Ser) c.2422C>A (p.Arg808Ser) c.2419C>A (p.Arg807Ser) c.2416C>A (p.Arg806Ser) c.2380C>A (p.Arg794Ser) c.2299C>A (p.Arg767Ser) c.2218C>A (p.Arg740Ser) c.2137C>A (p.Arg713Ser) c.2134C>A (p.Arg712Ser) c.2059C>A (p.Arg687Ser) c.2056C>A (p.Arg686Ser) | gnomAD v4 |
17 | g.12992959C>A | CA398222268 | ELAC2 | c.2340G>T (p.Glu780Asp) c.2283G>T (p.Glu761Asp) c.2220G>T (p.Glu740Asp) n.2227G>T n.2169G>T n.3170G>T n.1886G>T c.1739G>T c.2337G>T (p.Glu779Asp) c.2499G>T (p.Glu833Asp) c.2421G>T (p.Glu807Asp) c.2418G>T (p.Glu806Asp) c.2415G>T (p.Glu805Asp) c.2379G>T (p.Glu793Asp) c.2298G>T (p.Glu766Asp) c.2217G>T (p.Glu739Asp) c.2136G>T (p.Glu712Asp) c.2133G>T (p.Glu711Asp) c.2058G>T (p.Glu686Asp) c.2055G>T (p.Glu685Asp) | |
17 | g.12992959C>G | CA398222269 | ELAC2 | c.2340G>C (p.Glu780Asp) c.2283G>C (p.Glu761Asp) c.2220G>C (p.Glu740Asp) n.2227G>C n.2169G>C n.3170G>C n.1886G>C c.1739G>C c.2337G>C (p.Glu779Asp) c.2499G>C (p.Glu833Asp) c.2421G>C (p.Glu807Asp) c.2418G>C (p.Glu806Asp) c.2415G>C (p.Glu805Asp) c.2379G>C (p.Glu793Asp) c.2298G>C (p.Glu766Asp) c.2217G>C (p.Glu739Asp) c.2136G>C (p.Glu712Asp) c.2133G>C (p.Glu711Asp) c.2058G>C (p.Glu686Asp) c.2055G>C (p.Glu685Asp) | |
17 | g.12992959C>T | CA498009648 | ELAC2 | c.2340G>A (p.Glu780=) c.2283G>A (p.Glu761=) c.2220G>A (p.Glu740=) n.2227G>A n.2169G>A n.3170G>A n.1886G>A c.1739G>A c.2337G>A (p.Glu779=) c.2499G>A (p.Glu833=) c.2421G>A (p.Glu807=) c.2418G>A (p.Glu806=) c.2415G>A (p.Glu805=) c.2379G>A (p.Glu793=) c.2298G>A (p.Glu766=) c.2217G>A (p.Glu739=) c.2136G>A (p.Glu712=) c.2133G>A (p.Glu711=) c.2058G>A (p.Glu686=) c.2055G>A (p.Glu685=) | |
17 | g.12992960T>A | CA398222270 | ELAC2 | c.2339A>T (p.Glu780Val) c.2282A>T (p.Glu761Val) c.2219A>T (p.Glu740Val) n.2226A>T n.2168A>T n.3169A>T n.1885A>T c.1738A>T c.2336A>T (p.Glu779Val) c.2498A>T (p.Glu833Val) c.2420A>T (p.Glu807Val) c.2417A>T (p.Glu806Val) c.2414A>T (p.Glu805Val) c.2378A>T (p.Glu793Val) c.2297A>T (p.Glu766Val) c.2216A>T (p.Glu739Val) c.2135A>T (p.Glu712Val) c.2132A>T (p.Glu711Val) c.2057A>T (p.Glu686Val) c.2054A>T (p.Glu685Val) | |
17 | g.12992960T>C | CA398222271 | ELAC2 | c.2339A>G (p.Glu780Gly) c.2282A>G (p.Glu761Gly) c.2219A>G (p.Glu740Gly) n.2226A>G n.2168A>G n.3169A>G n.1885A>G c.1738A>G c.2336A>G (p.Glu779Gly) c.2498A>G (p.Glu833Gly) c.2420A>G (p.Glu807Gly) c.2417A>G (p.Glu806Gly) c.2414A>G (p.Glu805Gly) c.2378A>G (p.Glu793Gly) c.2297A>G (p.Glu766Gly) c.2216A>G (p.Glu739Gly) c.2135A>G (p.Glu712Gly) c.2132A>G (p.Glu711Gly) c.2057A>G (p.Glu686Gly) c.2054A>G (p.Glu685Gly) | gnomAD v4 |
17 | g.12992960T>G | CA398222272 | ELAC2 | c.2339A>C (p.Glu780Ala) c.2282A>C (p.Glu761Ala) c.2219A>C (p.Glu740Ala) n.2226A>C n.2168A>C n.3169A>C n.1885A>C c.1738A>C c.2336A>C (p.Glu779Ala) c.2498A>C (p.Glu833Ala) c.2420A>C (p.Glu807Ala) c.2417A>C (p.Glu806Ala) c.2414A>C (p.Glu805Ala) c.2378A>C (p.Glu793Ala) c.2297A>C (p.Glu766Ala) c.2216A>C (p.Glu739Ala) c.2135A>C (p.Glu712Ala) c.2132A>C (p.Glu711Ala) c.2057A>C (p.Glu686Ala) c.2054A>C (p.Glu685Ala) | |
17 | g.12992961C>A | CA398222273 | ELAC2 | c.2338G>T (p.Glu780Ter) c.2281G>T (p.Glu761Ter) c.2218G>T (p.Glu740Ter) n.2225G>T n.2167G>T n.3168G>T n.1884G>T c.1737G>T c.2335G>T (p.Glu779Ter) c.2497G>T (p.Glu833Ter) c.2419G>T (p.Glu807Ter) c.2416G>T (p.Glu806Ter) c.2413G>T (p.Glu805Ter) c.2377G>T (p.Glu793Ter) c.2296G>T (p.Glu766Ter) c.2215G>T (p.Glu739Ter) c.2134G>T (p.Glu712Ter) c.2131G>T (p.Glu711Ter) c.2056G>T (p.Glu686Ter) c.2053G>T (p.Glu685Ter) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.12992961C= | CA2248421644 | ELAC2 | c.2338G= (p.Glu780=) c.2281G= (p.Glu761=) c.2218G= (p.Glu740=) n.2225G= n.2167G= n.3168G= n.1884G= c.1737G= c.2335G= (p.Glu779=) c.2497G= (p.Glu833=) c.2419G= (p.Glu807=) c.2416G= (p.Glu806=) c.2413G= (p.Glu805=) c.2377G= (p.Glu793=) c.2296G= (p.Glu766=) c.2215G= (p.Glu739=) c.2134G= (p.Glu712=) c.2131G= (p.Glu711=) c.2056G= (p.Glu686=) c.2053G= (p.Glu685=) | |
17 | g.12992961C>G | CA398222274 | ELAC2 | c.2338G>C (p.Glu780Gln) c.2281G>C (p.Glu761Gln) c.2218G>C (p.Glu740Gln) n.2225G>C n.2167G>C n.3168G>C n.1884G>C c.1737G>C c.2335G>C (p.Glu779Gln) c.2497G>C (p.Glu833Gln) c.2419G>C (p.Glu807Gln) c.2416G>C (p.Glu806Gln) c.2413G>C (p.Glu805Gln) c.2377G>C (p.Glu793Gln) c.2296G>C (p.Glu766Gln) c.2215G>C (p.Glu739Gln) c.2134G>C (p.Glu712Gln) c.2131G>C (p.Glu711Gln) c.2056G>C (p.Glu686Gln) c.2053G>C (p.Glu685Gln) | |
17 | g.12992961C>T | CA398222275 | ELAC2 | c.2338G>A (p.Glu780Lys) c.2281G>A (p.Glu761Lys) c.2218G>A (p.Glu740Lys) n.2225G>A n.2167G>A n.3168G>A n.1884G>A c.1737G>A c.2335G>A (p.Glu779Lys) c.2497G>A (p.Glu833Lys) c.2419G>A (p.Glu807Lys) c.2416G>A (p.Glu806Lys) c.2413G>A (p.Glu805Lys) c.2377G>A (p.Glu793Lys) c.2296G>A (p.Glu766Lys) c.2215G>A (p.Glu739Lys) c.2134G>A (p.Glu712Lys) c.2131G>A (p.Glu711Lys) c.2056G>A (p.Glu686Lys) c.2053G>A (p.Glu685Lys) | |
17 | g.12992962del | CA2636193347 | ELAC2 | c.2338del (p.Glu780SerfsTer?) c.2281del (p.Glu761SerfsTer?) c.2218del (p.Glu740SerfsTer?) n.2225del n.2167del n.3168del n.1884del c.1737del c.2335del (p.Glu779SerfsTer?) c.2497del (p.Glu833SerfsTer?) c.2419del (p.Glu807SerfsTer?) c.2416del (p.Glu806SerfsTer?) c.2413del (p.Glu805SerfsTer?) c.2377del (p.Glu793SerfsTer?) c.2296del (p.Glu766SerfsTer?) c.2215del (p.Glu739SerfsTer?) c.2134del (p.Glu712SerfsTer?) c.2131del (p.Glu711SerfsTer?) c.2056del (p.Glu686SerfsTer?) c.2053del (p.Glu685SerfsTer?) | gnomAD v4 |
17 | g.12992962C>A | CA398222276 | ELAC2 | c.2337G>T (p.Glu779Asp) c.2280G>T (p.Glu760Asp) c.2217G>T (p.Glu739Asp) n.2224G>T n.2166G>T n.3167G>T n.1883G>T c.1736G>T c.2334G>T (p.Glu778Asp) c.2496G>T (p.Glu832Asp) c.2418G>T (p.Glu806Asp) c.2415G>T (p.Glu805Asp) c.2412G>T (p.Glu804Asp) c.2376G>T (p.Glu792Asp) c.2295G>T (p.Glu765Asp) c.2214G>T (p.Glu738Asp) c.2133G>T (p.Glu711Asp) c.2130G>T (p.Glu710Asp) c.2055G>T (p.Glu685Asp) c.2052G>T (p.Glu684Asp) | |
17 | g.12992962C>G | CA398222277 | ELAC2 | c.2337G>C (p.Glu779Asp) c.2280G>C (p.Glu760Asp) c.2217G>C (p.Glu739Asp) n.2224G>C n.2166G>C n.3167G>C n.1883G>C c.1736G>C c.2334G>C (p.Glu778Asp) c.2496G>C (p.Glu832Asp) c.2418G>C (p.Glu806Asp) c.2415G>C (p.Glu805Asp) c.2412G>C (p.Glu804Asp) c.2376G>C (p.Glu792Asp) c.2295G>C (p.Glu765Asp) c.2214G>C (p.Glu738Asp) c.2133G>C (p.Glu711Asp) c.2130G>C (p.Glu710Asp) c.2055G>C (p.Glu685Asp) c.2052G>C (p.Glu684Asp) | |
17 | g.12992962C>T | CA498009650 | ELAC2 | c.2337G>A (p.Glu779=) c.2280G>A (p.Glu760=) c.2217G>A (p.Glu739=) n.2224G>A n.2166G>A n.3167G>A n.1883G>A c.1736G>A c.2334G>A (p.Glu778=) c.2496G>A (p.Glu832=) c.2418G>A (p.Glu806=) c.2415G>A (p.Glu805=) c.2412G>A (p.Glu804=) c.2376G>A (p.Glu792=) c.2295G>A (p.Glu765=) c.2214G>A (p.Glu738=) c.2133G>A (p.Glu711=) c.2130G>A (p.Glu710=) c.2055G>A (p.Glu685=) c.2052G>A (p.Glu684=) | COSMIC |
17 | g.12992963T>A | CA398222280 | ELAC2 | c.2336A>T (p.Glu779Val) c.2279A>T (p.Glu760Val) c.2216A>T (p.Glu739Val) n.2223A>T n.2165A>T n.3166A>T n.1882A>T c.1735A>T c.2333A>T (p.Glu778Val) c.2495A>T (p.Glu832Val) c.2417A>T (p.Glu806Val) c.2414A>T (p.Glu805Val) c.2411A>T (p.Glu804Val) c.2375A>T (p.Glu792Val) c.2294A>T (p.Glu765Val) c.2213A>T (p.Glu738Val) c.2132A>T (p.Glu711Val) c.2129A>T (p.Glu710Val) c.2054A>T (p.Glu685Val) c.2051A>T (p.Glu684Val) | gnomAD v4 |
17 | g.12992963T>C | CA398222278 | ELAC2 | c.2336A>G (p.Glu779Gly) c.2279A>G (p.Glu760Gly) c.2216A>G (p.Glu739Gly) n.2223A>G n.2165A>G n.3166A>G n.1882A>G c.1735A>G c.2333A>G (p.Glu778Gly) c.2495A>G (p.Glu832Gly) c.2417A>G (p.Glu806Gly) c.2414A>G (p.Glu805Gly) c.2411A>G (p.Glu804Gly) c.2375A>G (p.Glu792Gly) c.2294A>G (p.Glu765Gly) c.2213A>G (p.Glu738Gly) c.2132A>G (p.Glu711Gly) c.2129A>G (p.Glu710Gly) c.2054A>G (p.Glu685Gly) c.2051A>G (p.Glu684Gly) | |
17 | g.12992963T>G | CA398222279 | ELAC2 | c.2336A>C (p.Glu779Ala) c.2279A>C (p.Glu760Ala) c.2216A>C (p.Glu739Ala) n.2223A>C n.2165A>C n.3166A>C n.1882A>C c.1735A>C c.2333A>C (p.Glu778Ala) c.2495A>C (p.Glu832Ala) c.2417A>C (p.Glu806Ala) c.2414A>C (p.Glu805Ala) c.2411A>C (p.Glu804Ala) c.2375A>C (p.Glu792Ala) c.2294A>C (p.Glu765Ala) c.2213A>C (p.Glu738Ala) c.2132A>C (p.Glu711Ala) c.2129A>C (p.Glu710Ala) c.2054A>C (p.Glu685Ala) c.2051A>C (p.Glu684Ala) | gnomAD v4 |
17 | g.12992964C>A | CA398222281 | ELAC2 | c.2335G>T (p.Glu779Ter) c.2278G>T (p.Glu760Ter) c.2215G>T (p.Glu739Ter) n.2222G>T n.2164G>T n.3165G>T n.1881G>T c.1734G>T c.2332G>T (p.Glu778Ter) c.2494G>T (p.Glu832Ter) c.2416G>T (p.Glu806Ter) c.2413G>T (p.Glu805Ter) c.2410G>T (p.Glu804Ter) c.2374G>T (p.Glu792Ter) c.2293G>T (p.Glu765Ter) c.2212G>T (p.Glu738Ter) c.2131G>T (p.Glu711Ter) c.2128G>T (p.Glu710Ter) c.2053G>T (p.Glu685Ter) c.2050G>T (p.Glu684Ter) | |
17 | g.12992964C>G | CA398222282 | ELAC2 | c.2335G>C (p.Glu779Gln) c.2278G>C (p.Glu760Gln) c.2215G>C (p.Glu739Gln) n.2222G>C n.2164G>C n.3165G>C n.1881G>C c.1734G>C c.2332G>C (p.Glu778Gln) c.2494G>C (p.Glu832Gln) c.2416G>C (p.Glu806Gln) c.2413G>C (p.Glu805Gln) c.2410G>C (p.Glu804Gln) c.2374G>C (p.Glu792Gln) c.2293G>C (p.Glu765Gln) c.2212G>C (p.Glu738Gln) c.2131G>C (p.Glu711Gln) c.2128G>C (p.Glu710Gln) c.2053G>C (p.Glu685Gln) c.2050G>C (p.Glu684Gln) | gnomAD v4 |
17 | g.12992964C>T | CA398222283 | ELAC2 | c.2335G>A (p.Glu779Lys) c.2278G>A (p.Glu760Lys) c.2215G>A (p.Glu739Lys) n.2222G>A n.2164G>A n.3165G>A n.1881G>A c.1734G>A c.2332G>A (p.Glu778Lys) c.2494G>A (p.Glu832Lys) c.2416G>A (p.Glu806Lys) c.2413G>A (p.Glu805Lys) c.2410G>A (p.Glu804Lys) c.2374G>A (p.Glu792Lys) c.2293G>A (p.Glu765Lys) c.2212G>A (p.Glu738Lys) c.2131G>A (p.Glu711Lys) c.2128G>A (p.Glu710Lys) c.2053G>A (p.Glu685Lys) c.2050G>A (p.Glu684Lys) | |
17 | g.12992965C>A | CA398222284 | ELAC2 | c.2334G>T (p.Met778Ile) c.2277G>T (p.Met759Ile) c.2214G>T (p.Met738Ile) n.2221G>T n.2163G>T n.3164G>T n.1880G>T c.1733G>T c.2331G>T (p.Met777Ile) c.2493G>T (p.Met831Ile) c.2415G>T (p.Met805Ile) c.2412G>T (p.Met804Ile) c.2409G>T (p.Met803Ile) c.2373G>T (p.Met791Ile) c.2292G>T (p.Met764Ile) c.2211G>T (p.Met737Ile) c.2130G>T (p.Met710Ile) c.2127G>T (p.Met709Ile) c.2052G>T (p.Met684Ile) c.2049G>T (p.Met683Ile) | |
17 | g.12992965C= | CA2248421647 | ELAC2 | c.2334G= (p.Met778=) c.2277G= (p.Met759=) c.2214G= (p.Met738=) n.2221G= n.2163G= n.3164G= n.1880G= c.1733G= c.2331G= (p.Met777=) c.2493G= (p.Met831=) c.2415G= (p.Met805=) c.2412G= (p.Met804=) c.2409G= (p.Met803=) c.2373G= (p.Met791=) c.2292G= (p.Met764=) c.2211G= (p.Met737=) c.2130G= (p.Met710=) c.2127G= (p.Met709=) c.2052G= (p.Met684=) c.2049G= (p.Met683=) | |
17 | g.12992965C>G | CA398222285 | ELAC2 | c.2334G>C (p.Met778Ile) c.2277G>C (p.Met759Ile) c.2214G>C (p.Met738Ile) n.2221G>C n.2163G>C n.3164G>C n.1880G>C c.1733G>C c.2331G>C (p.Met777Ile) c.2493G>C (p.Met831Ile) c.2415G>C (p.Met805Ile) c.2412G>C (p.Met804Ile) c.2409G>C (p.Met803Ile) c.2373G>C (p.Met791Ile) c.2292G>C (p.Met764Ile) c.2211G>C (p.Met737Ile) c.2130G>C (p.Met710Ile) c.2127G>C (p.Met709Ile) c.2052G>C (p.Met684Ile) c.2049G>C (p.Met683Ile) | |
17 | g.12992965C>T | CA398222286 | ELAC2 | c.2334G>A (p.Met778Ile) c.2277G>A (p.Met759Ile) c.2214G>A (p.Met738Ile) n.2221G>A n.2163G>A n.3164G>A n.1880G>A c.1733G>A c.2331G>A (p.Met777Ile) c.2493G>A (p.Met831Ile) c.2415G>A (p.Met805Ile) c.2412G>A (p.Met804Ile) c.2409G>A (p.Met803Ile) c.2373G>A (p.Met791Ile) c.2292G>A (p.Met764Ile) c.2211G>A (p.Met737Ile) c.2130G>A (p.Met710Ile) c.2127G>A (p.Met709Ile) c.2052G>A (p.Met684Ile) c.2049G>A (p.Met683Ile) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.12992966A= | CA2248421652 | ELAC2 | c.2333T= (p.Met778=) c.2276T= (p.Met759=) c.2213T= (p.Met738=) n.2220T= n.2162T= n.3163T= n.1879T= c.1732T= c.2330T= (p.Met777=) c.2492T= (p.Met831=) c.2414T= (p.Met805=) c.2411T= (p.Met804=) c.2408T= (p.Met803=) c.2372T= (p.Met791=) c.2291T= (p.Met764=) c.2210T= (p.Met737=) c.2129T= (p.Met710=) c.2126T= (p.Met709=) c.2051T= (p.Met684=) c.2048T= (p.Met683=) | |
17 | g.12992966A>C | CA398222287 | ELAC2 | c.2333T>G (p.Met778Arg) c.2276T>G (p.Met759Arg) c.2213T>G (p.Met738Arg) n.2220T>G n.2162T>G n.3163T>G n.1879T>G c.1732T>G c.2330T>G (p.Met777Arg) c.2492T>G (p.Met831Arg) c.2414T>G (p.Met805Arg) c.2411T>G (p.Met804Arg) c.2408T>G (p.Met803Arg) c.2372T>G (p.Met791Arg) c.2291T>G (p.Met764Arg) c.2210T>G (p.Met737Arg) c.2129T>G (p.Met710Arg) c.2126T>G (p.Met709Arg) c.2051T>G (p.Met684Arg) c.2048T>G (p.Met683Arg) | |
17 | g.12992966A>G | CA8400830 | ELAC2 | c.2333T>C (p.Met778Thr) c.2276T>C (p.Met759Thr) c.2213T>C (p.Met738Thr) n.2220T>C n.2162T>C n.3163T>C n.1879T>C c.1732T>C c.2330T>C (p.Met777Thr) c.2492T>C (p.Met831Thr) c.2414T>C (p.Met805Thr) c.2411T>C (p.Met804Thr) c.2408T>C (p.Met803Thr) c.2372T>C (p.Met791Thr) c.2291T>C (p.Met764Thr) c.2210T>C (p.Met737Thr) c.2129T>C (p.Met710Thr) c.2126T>C (p.Met709Thr) c.2051T>C (p.Met684Thr) c.2048T>C (p.Met683Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.12992966A>T | CA398222288 | ELAC2 | c.2333T>A (p.Met778Lys) c.2276T>A (p.Met759Lys) c.2213T>A (p.Met738Lys) n.2220T>A n.2162T>A n.3163T>A n.1879T>A c.1732T>A c.2330T>A (p.Met777Lys) c.2492T>A (p.Met831Lys) c.2414T>A (p.Met805Lys) c.2411T>A (p.Met804Lys) c.2408T>A (p.Met803Lys) c.2372T>A (p.Met791Lys) c.2291T>A (p.Met764Lys) c.2210T>A (p.Met737Lys) c.2129T>A (p.Met710Lys) c.2126T>A (p.Met709Lys) c.2051T>A (p.Met684Lys) c.2048T>A (p.Met683Lys) | |
17 | g.12992967T>A | CA398222289 | ELAC2 | c.2332A>T (p.Met778Leu) c.2275A>T (p.Met759Leu) c.2212A>T (p.Met738Leu) n.2219A>T n.2161A>T n.3162A>T n.1878A>T c.1731A>T c.2329A>T (p.Met777Leu) c.2491A>T (p.Met831Leu) c.2413A>T (p.Met805Leu) c.2410A>T (p.Met804Leu) c.2407A>T (p.Met803Leu) c.2371A>T (p.Met791Leu) c.2290A>T (p.Met764Leu) c.2209A>T (p.Met737Leu) c.2128A>T (p.Met710Leu) c.2125A>T (p.Met709Leu) c.2050A>T (p.Met684Leu) c.2047A>T (p.Met683Leu) | |
17 | g.12992967T>C | CA398222290 | ELAC2 | c.2332A>G (p.Met778Val) c.2275A>G (p.Met759Val) c.2212A>G (p.Met738Val) n.2219A>G n.2161A>G n.3162A>G n.1878A>G c.1731A>G c.2329A>G (p.Met777Val) c.2491A>G (p.Met831Val) c.2413A>G (p.Met805Val) c.2410A>G (p.Met804Val) c.2407A>G (p.Met803Val) c.2371A>G (p.Met791Val) c.2290A>G (p.Met764Val) c.2209A>G (p.Met737Val) c.2128A>G (p.Met710Val) c.2125A>G (p.Met709Val) c.2050A>G (p.Met684Val) c.2047A>G (p.Met683Val) | dbSNP gnomAD v4 |
17 | g.12992967T>G | CA288075077 | ELAC2 | c.2332A>C (p.Met778Leu) c.2275A>C (p.Met759Leu) c.2212A>C (p.Met738Leu) n.2219A>C n.2161A>C n.3162A>C n.1878A>C c.1731A>C c.2329A>C (p.Met777Leu) c.2491A>C (p.Met831Leu) c.2413A>C (p.Met805Leu) c.2410A>C (p.Met804Leu) c.2407A>C (p.Met803Leu) c.2371A>C (p.Met791Leu) c.2290A>C (p.Met764Leu) c.2209A>C (p.Met737Leu) c.2128A>C (p.Met710Leu) c.2125A>C (p.Met709Leu) c.2050A>C (p.Met684Leu) c.2047A>C (p.Met683Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.12992967T= | CA2248421655 | ELAC2 | c.2332A= (p.Met778=) c.2275A= (p.Met759=) c.2212A= (p.Met738=) n.2219A= n.2161A= n.3162A= n.1878A= c.1731A= c.2329A= (p.Met777=) c.2491A= (p.Met831=) c.2413A= (p.Met805=) c.2410A= (p.Met804=) c.2407A= (p.Met803=) c.2371A= (p.Met791=) c.2290A= (p.Met764=) c.2209A= (p.Met737=) c.2128A= (p.Met710=) c.2125A= (p.Met709=) c.2050A= (p.Met684=) c.2047A= (p.Met683=) | |
17 | g.12992968C>A | CA398222292 | ELAC2 | c.2331G>T (p.Glu777Asp) c.2274G>T (p.Glu758Asp) c.2211G>T (p.Glu737Asp) n.2218G>T n.2160G>T n.3161G>T n.1877G>T c.1730G>T c.2328G>T (p.Glu776Asp) c.2490G>T (p.Glu830Asp) c.2412G>T (p.Glu804Asp) c.2409G>T (p.Glu803Asp) c.2406G>T (p.Glu802Asp) c.2370G>T (p.Glu790Asp) c.2289G>T (p.Glu763Asp) c.2208G>T (p.Glu736Asp) c.2127G>T (p.Glu709Asp) c.2124G>T (p.Glu708Asp) c.2049G>T (p.Glu683Asp) c.2046G>T (p.Glu682Asp) | dbSNP |
17 | g.12992968C>G | CA398222291 | ELAC2 | c.2331G>C (p.Glu777Asp) c.2274G>C (p.Glu758Asp) c.2211G>C (p.Glu737Asp) n.2218G>C n.2160G>C n.3161G>C n.1877G>C c.1730G>C c.2328G>C (p.Glu776Asp) c.2490G>C (p.Glu830Asp) c.2412G>C (p.Glu804Asp) c.2409G>C (p.Glu803Asp) c.2406G>C (p.Glu802Asp) c.2370G>C (p.Glu790Asp) c.2289G>C (p.Glu763Asp) c.2208G>C (p.Glu736Asp) c.2127G>C (p.Glu709Asp) c.2124G>C (p.Glu708Asp) c.2049G>C (p.Glu683Asp) c.2046G>C (p.Glu682Asp) | |
17 | g.12992968C>T | CA498009652 | ELAC2 | c.2331G>A (p.Glu777=) c.2274G>A (p.Glu758=) c.2211G>A (p.Glu737=) n.2218G>A n.2160G>A n.3161G>A n.1877G>A c.1730G>A c.2328G>A (p.Glu776=) c.2490G>A (p.Glu830=) c.2412G>A (p.Glu804=) c.2409G>A (p.Glu803=) c.2406G>A (p.Glu802=) c.2370G>A (p.Glu790=) c.2289G>A (p.Glu763=) c.2208G>A (p.Glu736=) c.2127G>A (p.Glu709=) c.2124G>A (p.Glu708=) c.2049G>A (p.Glu683=) c.2046G>A (p.Glu682=) | |
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.12992971del | CA2840256618 | ELAC2 | c.2329del (p.Glu777ArgfsTer?) c.2272del (p.Glu758ArgfsTer?) c.2209del (p.Glu737ArgfsTer?) n.2216del n.2158del n.3159del n.1875del c.1728del c.2326del (p.Glu776ArgfsTer?) c.2488del (p.Glu830ArgfsTer?) c.2410del (p.Glu804ArgfsTer?) c.2407del (p.Glu803ArgfsTer?) c.2404del (p.Glu802ArgfsTer?) c.2368del (p.Glu790ArgfsTer?) c.2287del (p.Glu763ArgfsTer?) c.2206del (p.Glu736ArgfsTer?) c.2125del (p.Glu709ArgfsTer?) c.2122del (p.Glu708ArgfsTer?) c.2047del (p.Glu683ArgfsTer?) c.2044del (p.Glu682ArgfsTer?) | |
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) |