UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.12992868T>A | CA398222097 | ELAC2 | c.2431A>T (p.Lys811Ter) c.2374A>T (p.Lys792Ter) c.2311A>T (p.Lys771Ter) n.2318A>T n.2260A>T n.3261A>T n.1977A>T c.1830A>T c.2428A>T (p.Lys810Ter) c.2590A>T (p.Lys864Ter) c.2512A>T (p.Lys838Ter) c.2509A>T (p.Lys837Ter) c.2506A>T (p.Lys836Ter) c.2470A>T (p.Lys824Ter) c.2389A>T (p.Lys797Ter) c.2308A>T (p.Lys770Ter) c.2227A>T (p.Lys743Ter) c.2224A>T (p.Lys742Ter) c.2149A>T (p.Lys717Ter) c.2146A>T (p.Lys716Ter) | |
| 17 | g.12992868T>C | CA8400796 | ELAC2 | c.2431A>G (p.Lys811Glu) c.2374A>G (p.Lys792Glu) c.2311A>G (p.Lys771Glu) n.2318A>G n.2260A>G n.3261A>G n.1977A>G c.1830A>G c.2428A>G (p.Lys810Glu) c.2590A>G (p.Lys864Glu) c.2512A>G (p.Lys838Glu) c.2509A>G (p.Lys837Glu) c.2506A>G (p.Lys836Glu) c.2470A>G (p.Lys824Glu) c.2389A>G (p.Lys797Glu) c.2308A>G (p.Lys770Glu) c.2227A>G (p.Lys743Glu) c.2224A>G (p.Lys742Glu) c.2149A>G (p.Lys717Glu) c.2146A>G (p.Lys716Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.12992868T>G | CA398222098 | ELAC2 | c.2431A>C (p.Lys811Gln) c.2374A>C (p.Lys792Gln) c.2311A>C (p.Lys771Gln) n.2318A>C n.2260A>C n.3261A>C n.1977A>C c.1830A>C c.2428A>C (p.Lys810Gln) c.2590A>C (p.Lys864Gln) c.2512A>C (p.Lys838Gln) c.2509A>C (p.Lys837Gln) c.2506A>C (p.Lys836Gln) c.2470A>C (p.Lys824Gln) c.2389A>C (p.Lys797Gln) c.2308A>C (p.Lys770Gln) c.2227A>C (p.Lys743Gln) c.2224A>C (p.Lys742Gln) c.2149A>C (p.Lys717Gln) c.2146A>C (p.Lys716Gln) | |
| 17 | g.12992868T= | CA2248421391 | ELAC2 | c.2431A= (p.Lys811=) c.2374A= (p.Lys792=) c.2311A= (p.Lys771=) n.2318A= n.2260A= n.3261A= n.1977A= c.1830A= c.2428A= (p.Lys810=) c.2590A= (p.Lys864=) c.2512A= (p.Lys838=) c.2509A= (p.Lys837=) c.2506A= (p.Lys836=) c.2470A= (p.Lys824=) c.2389A= (p.Lys797=) c.2308A= (p.Lys770=) c.2227A= (p.Lys743=) c.2224A= (p.Lys742=) c.2149A= (p.Lys717=) c.2146A= (p.Lys716=) | |
| 17 | g.12992869C>A | CA398222099 | ELAC2 | c.2430G>T (p.Gln810His) c.2373G>T (p.Gln791His) c.2310G>T (p.Gln770His) n.2317G>T n.2259G>T n.3260G>T n.1976G>T c.1829G>T c.2427G>T (p.Gln809His) c.2589G>T (p.Gln863His) c.2511G>T (p.Gln837His) c.2508G>T (p.Gln836His) c.2505G>T (p.Gln835His) c.2469G>T (p.Gln823His) c.2388G>T (p.Gln796His) c.2307G>T (p.Gln769His) c.2226G>T (p.Gln742His) c.2223G>T (p.Gln741His) c.2148G>T (p.Gln716His) c.2145G>T (p.Gln715His) | |
| 17 | g.12992869C>G | CA398222100 | ELAC2 | c.2430G>C (p.Gln810His) c.2373G>C (p.Gln791His) c.2310G>C (p.Gln770His) n.2317G>C n.2259G>C n.3260G>C n.1976G>C c.1829G>C c.2427G>C (p.Gln809His) c.2589G>C (p.Gln863His) c.2511G>C (p.Gln837His) c.2508G>C (p.Gln836His) c.2505G>C (p.Gln835His) c.2469G>C (p.Gln823His) c.2388G>C (p.Gln796His) c.2307G>C (p.Gln769His) c.2226G>C (p.Gln742His) c.2223G>C (p.Gln741His) c.2148G>C (p.Gln716His) c.2145G>C (p.Gln715His) | gnomAD v4 |
| 17 | g.12992869C>T | CA498009581 | ELAC2 | c.2430G>A (p.Gln810=) c.2373G>A (p.Gln791=) c.2310G>A (p.Gln770=) n.2317G>A n.2259G>A n.3260G>A n.1976G>A c.1829G>A c.2427G>A (p.Gln809=) c.2589G>A (p.Gln863=) c.2511G>A (p.Gln837=) c.2508G>A (p.Gln836=) c.2505G>A (p.Gln835=) c.2469G>A (p.Gln823=) c.2388G>A (p.Gln796=) c.2307G>A (p.Gln769=) c.2226G>A (p.Gln742=) c.2223G>A (p.Gln741=) c.2148G>A (p.Gln716=) c.2145G>A (p.Gln715=) | |
| 17 | g.12992870T>A | CA398222102 | ELAC2 | c.2429A>T (p.Gln810Leu) c.2372A>T (p.Gln791Leu) c.2309A>T (p.Gln770Leu) n.2316A>T n.2258A>T n.3259A>T n.1975A>T c.1828A>T c.2426A>T (p.Gln809Leu) c.2588A>T (p.Gln863Leu) c.2510A>T (p.Gln837Leu) c.2507A>T (p.Gln836Leu) c.2504A>T (p.Gln835Leu) c.2468A>T (p.Gln823Leu) c.2387A>T (p.Gln796Leu) c.2306A>T (p.Gln769Leu) c.2225A>T (p.Gln742Leu) c.2222A>T (p.Gln741Leu) c.2147A>T (p.Gln716Leu) c.2144A>T (p.Gln715Leu) | |
| 17 | g.12992870T>C | CA398222103 | ELAC2 | c.2429A>G (p.Gln810Arg) c.2372A>G (p.Gln791Arg) c.2309A>G (p.Gln770Arg) n.2316A>G n.2258A>G n.3259A>G n.1975A>G c.1828A>G c.2426A>G (p.Gln809Arg) c.2588A>G (p.Gln863Arg) c.2510A>G (p.Gln837Arg) c.2507A>G (p.Gln836Arg) c.2504A>G (p.Gln835Arg) c.2468A>G (p.Gln823Arg) c.2387A>G (p.Gln796Arg) c.2306A>G (p.Gln769Arg) c.2225A>G (p.Gln742Arg) c.2222A>G (p.Gln741Arg) c.2147A>G (p.Gln716Arg) c.2144A>G (p.Gln715Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.12992870T>G | CA398222101 | ELAC2 | c.2429A>C (p.Gln810Pro) c.2372A>C (p.Gln791Pro) c.2309A>C (p.Gln770Pro) n.2316A>C n.2258A>C n.3259A>C n.1975A>C c.1828A>C c.2426A>C (p.Gln809Pro) c.2588A>C (p.Gln863Pro) c.2510A>C (p.Gln837Pro) c.2507A>C (p.Gln836Pro) c.2504A>C (p.Gln835Pro) c.2468A>C (p.Gln823Pro) c.2387A>C (p.Gln796Pro) c.2306A>C (p.Gln769Pro) c.2225A>C (p.Gln742Pro) c.2222A>C (p.Gln741Pro) c.2147A>C (p.Gln716Pro) c.2144A>C (p.Gln715Pro) | |
| 17 | g.12992870T= | CA2248421394 | ELAC2 | c.2429A= (p.Gln810=) c.2372A= (p.Gln791=) c.2309A= (p.Gln770=) n.2316A= n.2258A= n.3259A= n.1975A= c.1828A= c.2426A= (p.Gln809=) c.2588A= (p.Gln863=) c.2510A= (p.Gln837=) c.2507A= (p.Gln836=) c.2504A= (p.Gln835=) c.2468A= (p.Gln823=) c.2387A= (p.Gln796=) c.2306A= (p.Gln769=) c.2225A= (p.Gln742=) c.2222A= (p.Gln741=) c.2147A= (p.Gln716=) c.2144A= (p.Gln715=) | |
| 17 | g.12992871G>A | CA398222105 | ELAC2 | c.2428C>T (p.Gln810Ter) c.2371C>T (p.Gln791Ter) c.2308C>T (p.Gln770Ter) n.2315C>T n.2257C>T n.3258C>T n.1974C>T c.1827C>T c.2425C>T (p.Gln809Ter) c.2587C>T (p.Gln863Ter) c.2509C>T (p.Gln837Ter) c.2506C>T (p.Gln836Ter) c.2503C>T (p.Gln835Ter) c.2467C>T (p.Gln823Ter) c.2386C>T (p.Gln796Ter) c.2305C>T (p.Gln769Ter) c.2224C>T (p.Gln742Ter) c.2221C>T (p.Gln741Ter) c.2146C>T (p.Gln716Ter) c.2143C>T (p.Gln715Ter) | dbSNP COSMIC |
| 17 | g.12992871G>C | CA398222104 | ELAC2 | c.2428C>G (p.Gln810Glu) c.2371C>G (p.Gln791Glu) c.2308C>G (p.Gln770Glu) n.2315C>G n.2257C>G n.3258C>G n.1974C>G c.1827C>G c.2425C>G (p.Gln809Glu) c.2587C>G (p.Gln863Glu) c.2509C>G (p.Gln837Glu) c.2506C>G (p.Gln836Glu) c.2503C>G (p.Gln835Glu) c.2467C>G (p.Gln823Glu) c.2386C>G (p.Gln796Glu) c.2305C>G (p.Gln769Glu) c.2224C>G (p.Gln742Glu) c.2221C>G (p.Gln741Glu) c.2146C>G (p.Gln716Glu) c.2143C>G (p.Gln715Glu) | |
| 17 | g.12992871G>T | CA398222106 | ELAC2 | c.2428C>A (p.Gln810Lys) c.2371C>A (p.Gln791Lys) c.2308C>A (p.Gln770Lys) n.2315C>A n.2257C>A n.3258C>A n.1974C>A c.1827C>A c.2425C>A (p.Gln809Lys) c.2587C>A (p.Gln863Lys) c.2509C>A (p.Gln837Lys) c.2506C>A (p.Gln836Lys) c.2503C>A (p.Gln835Lys) c.2467C>A (p.Gln823Lys) c.2386C>A (p.Gln796Lys) c.2305C>A (p.Gln769Lys) c.2224C>A (p.Gln742Lys) c.2221C>A (p.Gln741Lys) c.2146C>A (p.Gln716Lys) c.2143C>A (p.Gln715Lys) | |
| 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.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=) |