| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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) |