Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.12992875A>CCA498009584ELAC2c.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
17g.12992875A>GCA498009582ELAC2c.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
17g.12992875A>TCA498009583ELAC2c.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
17g.12992875_12992877delinsAGGCA2248421405ELAC2c.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=)
17g.12992875_12992877delinsGGCCA288074943ELAC2c.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
17g.12992876G>ACA398222114ELAC2c.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
17g.12992876G>CCA398222116ELAC2c.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)
17g.12992876G=CA2248421408ELAC2c.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=)
17g.12992876G>TCA398222115ELAC2c.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)
17g.12992877G>ACA398222117ELAC2c.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
17g.12992877G>CCA398222118ELAC2c.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)
17g.12992877G=CA2248421411ELAC2c.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=)
17g.12992877G>TCA398222119ELAC2c.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)
17g.12992878C>ACA398222120ELAC2c.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)
17g.12992878C>GCA398222121ELAC2c.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)
17g.12992878C>TCA498009585ELAC2c.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
17g.12992879T>ACA398222122ELAC2c.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)
17g.12992879T>CCA398222123ELAC2c.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
17g.12992879T>GCA398222124ELAC2c.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)
17g.12992880C>ACA398222125ELAC2c.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)
17g.12992880C=CA2248421413ELAC2c.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=)
17g.12992880C>GCA398222126ELAC2c.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)
17g.12992880C>TCA398222127ELAC2c.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
17g.12992883delCA2838206458ELAC2c.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?)
17g.12992881C>ACA498009586ELAC2c.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=)
17g.12992881C=CA2248421416ELAC2c.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=)
17g.12992881C>GCA8400798ELAC2c.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
17g.12992881C>TCA498009587ELAC2c.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=)
17g.12992882C>ACA398222129ELAC2c.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
17g.12992882C=CA2248421419ELAC2c.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=)
17g.12992882C>GCA398222128ELAC2c.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
17g.12992882C>TCA8400799ELAC2c.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
17g.12992883C>ACA398222130ELAC2c.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)
17g.12992883C=CA2248421424ELAC2c.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=)
17g.12992883C>GCA288074947ELAC2c.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
17g.12992883C>TCA398222131ELAC2c.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
17g.12992884A>CCA398222132ELAC2c.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)
17g.12992884A>GCA498009588ELAC2c.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
17g.12992884A>TCA398222133ELAC2c.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)
17g.12992902_12992903insCGCTCCCTGGACAGGAGGGCCGCCCGCACCCGCCGCAGCTCCCGATCCTCCAGGCCGCCTGCCCA981620051ELAC2c.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)
17g.12992914_12992915insTCGAGGGCGGCCCGCACCTGCCGCAGCTCCCGATCCTCCAGGCCGCCTGCCAGCTCCCTGGACCA2808527062ELAC2c.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)
17g.12992941_12992942insCCCCGATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGCCA10583446ELAC2c.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
17g.12992884_12992946dupCA8400800ELAC2c.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
17g.12992885T>ACA398222134ELAC2c.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)
17g.12992885T>CCA8400801ELAC2c.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
17g.12992885T>GCA398222135ELAC2c.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)
17g.12992885T=CA2248421435ELAC2c.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=)
17g.12992886C>ACA398222136ELAC2c.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)
17g.12992886C=CA2248421439ELAC2c.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=)
17g.12992886C>GCA398222137ELAC2c.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)
17g.12992886C>TCA398222138ELAC2c.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
17g.12992887C>ACA398222140ELAC2c.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
17g.12992887C=CA2248421441ELAC2c.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=)
17g.12992887C>GCA398222139ELAC2c.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)
17g.12992887C>TCA498009589ELAC2c.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
17g.12992888T>ACA398222141ELAC2c.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)
17g.12992888T>CCA398222142ELAC2c.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)
17g.12992888T>GCA398222143ELAC2c.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)
17g.12992889C>ACA398222144ELAC2c.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)
17g.12992889C>GCA398222145ELAC2c.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)
17g.12992889C>TCA398222146ELAC2c.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)
17g.12992890delCA2573153038ELAC2c.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
17g.12992890C>ACA498009590ELAC2c.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=)
17g.12992890C=CA2248421444ELAC2c.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=)
17g.12992890C>GCA498009591ELAC2c.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=)
17g.12992890C>TCA8400802ELAC2c.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
17g.12992891A>CCA398222147ELAC2c.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)
17g.12992891A>GCA398222148ELAC2c.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)
17g.12992891A>TCA398222149ELAC2c.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)
17g.12992892G>ACA8400803ELAC2c.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
17g.12992892G>CCA398222150ELAC2c.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)
17g.12992892G=CA2248421449ELAC2c.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=)
17g.12992892G>TCA398222151ELAC2c.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)
17g.12992893G>ACA498009592ELAC2c.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
17g.12992893G>CCA498009593ELAC2c.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
17g.12992893G>TCA498009594ELAC2c.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=)
17g.12992894C>ACA398222154ELAC2c.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)
17g.12992894C>GCA398222153ELAC2c.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)
17g.12992894C>TCA398222152ELAC2c.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
17g.12992895C>ACA398222155ELAC2c.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)
17g.12992895C=CA2248421456ELAC2c.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=)
17g.12992895C>GCA398222156ELAC2c.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)
17g.12992895C>TCA8400804ELAC2c.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
17g.12992896G>ACA8400805ELAC2c.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
17g.12992896G>CCA498009595ELAC2c.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=)
17g.12992896G=CA2248421460ELAC2c.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=)
17g.12992896G>TCA498009596ELAC2c.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
17g.12992897C>ACA398222157ELAC2c.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)
17g.12992897C>GCA398222158ELAC2c.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)
17g.12992897C>TCA398222159ELAC2c.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
17g.12992898dupCA2840256616ELAC2c.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?)
17g.12992898C>ACA398222160ELAC2c.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)
17g.12992898C>GCA398222161ELAC2c.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)
17g.12992898C>TCA398222162ELAC2c.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)
17g.12992899T>ACA498009598ELAC2c.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=)
17g.12992899T>CCA8400806ELAC2c.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
17g.12992899T>GCA498009597ELAC2c.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=)
17g.12992899T=CA2248421466ELAC2c.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=)
17g.12992900G>ACA398222163ELAC2c.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
17g.12992900G>CCA398222164ELAC2c.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)
17g.12992900G=CA2248421469ELAC2c.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=)
17g.12992900G>TCA398222165ELAC2c.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)
17g.12992901C>ACA398222168ELAC2c.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)
17g.12992901C=CA2248421472ELAC2c.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=)
17g.12992901C>GCA398222167ELAC2c.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)
17g.12992901C>TCA398222166ELAC2c.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
17g.12992902C>ACA498009600ELAC2c.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=)
17g.12992902C=CA2248421476ELAC2c.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=)
17g.12992902C>GCA498009599ELAC2c.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=)
17g.12992902C>TCA8400807ELAC2c.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
17g.12992903A>CCA398222171ELAC2c.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)
17g.12992903A>GCA398222169ELAC2c.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)
17g.12992903A>TCA398222170ELAC2c.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)
17g.12992904G>ACA498009601ELAC2c.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
17g.12992904G>CCA398222172ELAC2c.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)
17g.12992904G=CA2248421478ELAC2c.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=)
17g.12992904G>TCA398222173ELAC2c.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)
17g.12992905C>ACA398222174ELAC2c.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
17g.12992905C>GCA398222175ELAC2c.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)
17g.12992905C>TCA498009602ELAC2c.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
17g.12992906T>ACA8400809ELAC2c.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
17g.12992906T>CCA398222176ELAC2c.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
17g.12992906T>GCA8400808ELAC2c.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
17g.12992906T=CA2248421483ELAC2c.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=)
17g.12992906_12992907delinsAACA2573153040ELAC2c.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
17g.12992906_12992907delinsGACA2573153039ELAC2c.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
17g.12992906_12992907delinsTCCA2248421482ELAC2c.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=)
17g.12992907C>ACA8400810ELAC2c.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
17g.12992907C=CA2248421488ELAC2c.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=)
17g.12992907C>GCA398222177ELAC2c.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)
17g.12992907C>TCA398222178ELAC2c.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)
17g.12992909dupCA2838208272ELAC2c.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?)
17g.12992909delCA726211321ELAC2c.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
17g.12992908C>ACA398222179ELAC2c.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)
17g.12992908C=CA2248421492ELAC2c.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=)
17g.12992908C>GCA398222180ELAC2c.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)
17g.12992908C>TCA498009603ELAC2c.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
17g.12992909C>ACA398222181ELAC2c.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)
17g.12992909C=CA2248421494ELAC2c.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=)
17g.12992909C>GCA398222182ELAC2c.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)
17g.12992909C>TCA288074996ELAC2c.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
17g.12992910T>ACA398222183ELAC2c.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)
17g.12992910T>CCA398222184ELAC2c.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
17g.12992910T>GCA498009604ELAC2c.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=)
17g.12992910T=CA2248421496ELAC2c.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=)
17g.12992911G>ACA498009605ELAC2c.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=)
17g.12992911G>CCA498009606ELAC2c.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=)
17g.12992911G>TCA498009607ELAC2c.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
17g.12992912G>ACA398222185ELAC2c.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)
17g.12992912G>CCA398222186ELAC2c.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
17g.12992912G=CA2248421501ELAC2c.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=)
17g.12992912G>TCA398222187ELAC2c.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
17g.12992913A=CA2248421502ELAC2c.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=)
17g.12992913A>CCA398222188ELAC2c.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
17g.12992913A>GCA398222189ELAC2c.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)
17g.12992913A>TCA398222190ELAC2c.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)
17g.12992914C>ACA498009608ELAC2c.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=)
17g.12992914C>GCA498009609ELAC2c.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=)
17g.12992914C>TCA498009610ELAC2c.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
17g.12992915A=CA2248421505ELAC2c.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=)
17g.12992915A>CCA398222191ELAC2c.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)
17g.12992915A>GCA288075003ELAC2c.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
17g.12992915A>TCA398222192ELAC2c.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)
17g.12992916G>ACA498009611ELAC2c.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=)
17g.12992916G>CCA398222193ELAC2c.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)
17g.12992916G>TCA398222194ELAC2c.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)
17g.12992917G>ACA498009612ELAC2c.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
17g.12992917G>CCA498009613ELAC2c.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=)
17g.12992917G=CA2248421509ELAC2c.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=)
17g.12992917G>TCA498009614ELAC2c.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
17g.12992918A>CCA398222195ELAC2c.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)
17g.12992918A>GCA398222196ELAC2c.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)
17g.12992918A>TCA398222197ELAC2c.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)
17g.12992919G>ACA398222198ELAC2c.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
17g.12992919G>CCA398222199ELAC2c.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)
17g.12992919G=CA2248421512ELAC2c.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=)
17g.12992919G>TCA398222200ELAC2c.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
17g.12992921delCA2840256617ELAC2c.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?)
17g.12992919_12992924delCA2573153041ELAC2c.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
17g.12992920G>ACA498009617ELAC2c.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=)
17g.12992920G>CCA498009615ELAC2c.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
17g.12992920G>TCA498009616ELAC2c.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=)
17g.12992921G>ACA8400811ELAC2c.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
17g.12992921G>CCA398222201ELAC2c.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
17g.12992921G=CA2248421516ELAC2c.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=)
17g.12992921G>TCA398222202ELAC2c.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
17g.12992922C>ACA398222203ELAC2c.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)
17g.12992922C>GCA398222204ELAC2c.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)
17g.12992922C>TCA398222205ELAC2c.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)
17g.12992923C>ACA498009618ELAC2c.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=)
17g.12992923C=CA2248421521ELAC2c.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=)
17g.12992923C>GCA498009619ELAC2c.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=)
17g.12992923C>TCA350650ELAC2c.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
17g.12992924G>ACA8400812ELAC2c.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
17g.12992924G>CCA8400813ELAC2c.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
17g.12992924G=CA2248421528ELAC2c.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=)
17g.12992924G>TCA398222206ELAC2c.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
17g.12992925C>ACA398222207ELAC2c.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)
17g.12992925C=CA2248421538ELAC2c.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=)
17g.12992925C>GCA398222208ELAC2c.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)
17g.12992925C>TCA398222209ELAC2c.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
17g.12992927delCA2636193266ELAC2c.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
17g.12992926C>ACA498009620ELAC2c.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=)
17g.12992926C>GCA498009621ELAC2c.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=)
17g.12992926C>TCA498009622ELAC2c.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=)
17g.12992931_12992939dupCA288075022ELAC2c.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
17g.12992927C>ACA398222210ELAC2c.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
17g.12992927C=CA2248421543ELAC2c.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=)
17g.12992927C>GCA398222211ELAC2c.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)
17g.12992927C>TCA8400814ELAC2c.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
17g.12992928G>ACA8400815ELAC2c.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
17g.12992928G>CCA398222212ELAC2c.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
17g.12992928G=CA2248421547ELAC2c.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=)
17g.12992928G>TCA498009623ELAC2c.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=)
17g.12992929C>ACA498009624ELAC2c.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=)
17g.12992929C=CA2248421553ELAC2c.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=)
17g.12992929C>GCA498009625ELAC2c.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=)
17g.12992929C>TCA8400816ELAC2c.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
17g.12992930A=CA2248421557ELAC2c.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=)
17g.12992930A>CCA8400817ELAC2c.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
17g.12992930A>GCA398222213ELAC2c.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
17g.12992930A>TCA398222214ELAC2c.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)
17g.12992931C>ACA398222215ELAC2c.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
17g.12992931C=CA2248421560ELAC2c.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=)
17g.12992931C>GCA398222217ELAC2c.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)
17g.12992931C>TCA398222216ELAC2c.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
17g.12992932C>ACA398222218ELAC2c.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
17g.12992932C>GCA398222219ELAC2c.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)
17g.12992932C>TCA498009626ELAC2c.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=)
17g.12992933T>ACA398222220ELAC2c.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)
17g.12992933T>CCA398222222ELAC2c.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)
17g.12992933T>GCA398222221ELAC2c.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)
17g.12992934G>ACA398222223ELAC2c.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
17g.12992934G>CCA398222224ELAC2c.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)
17g.12992934G>TCA398222225ELAC2c.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
17g.12992935C>ACA498009629ELAC2c.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=)
17g.12992935C>GCA498009628ELAC2c.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=)
17g.12992935C>TCA498009627ELAC2c.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
17g.12992939_12992947delCA2636193303ELAC2c.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
17g.12992936C>ACA398222226ELAC2c.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)
17g.12992936C=CA2248421562ELAC2c.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=)
17g.12992936C>GCA398222227ELAC2c.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)
17g.12992936C>TCA8400818ELAC2c.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
17g.12992937G>ACA8400819ELAC2c.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
17g.12992937G>CCA398222228ELAC2c.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)
17g.12992937G=CA2248421568ELAC2c.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=)
17g.12992937G>TCA498009630ELAC2c.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
17g.12992938C>ACA8400820ELAC2c.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
17g.12992938C=CA2248421571ELAC2c.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=)
17g.12992938C>GCA498009632ELAC2c.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=)
17g.12992938C>TCA498009631ELAC2c.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
17g.12992939A=CA2248421575ELAC2c.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=)
17g.12992939A>CCA398222229ELAC2c.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)
17g.12992939A>GCA398222230ELAC2c.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)
17g.12992939A>TCA8400821ELAC2c.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
17g.12992940G>ACA498009633ELAC2c.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
17g.12992940G>CCA398222231ELAC2c.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)
17g.12992940G>TCA398222232ELAC2c.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
17g.12992941C>ACA398222233ELAC2c.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)
17g.12992941C>GCA398222234ELAC2c.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)
17g.12992941C>TCA498009634ELAC2c.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
17g.12992942T>ACA398222235ELAC2c.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)
17g.12992942T>CCA398222236ELAC2c.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)
17g.12992942T>GCA398222237ELAC2c.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)
17g.12992943C>ACA398222238ELAC2c.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)
17g.12992943C=CA2248421579ELAC2c.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=)
17g.12992943C>GCA398222239ELAC2c.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)
17g.12992943C>TCA398222240ELAC2c.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
17g.12992944C>ACA498009635ELAC2c.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
17g.12992944C>GCA498009636ELAC2c.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=)
17g.12992944C>TCA498009637ELAC2c.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
17g.12992945C>ACA398222241ELAC2c.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
17g.12992945C=CA2248421582ELAC2c.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=)
17g.12992945C>GCA398222242ELAC2c.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)
17g.12992945C>TCA398222243ELAC2c.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
17g.12992946G>ACA16615097ELAC2c.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
17g.12992946G>CCA398222244ELAC2c.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
17g.12992946G=CA2248421590ELAC2c.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=)
17g.12992946G>TCA498009638ELAC2c.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
17g.12992946_12992947insATCCA8400822ELAC2c.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
17g.12992947C>ACA8400823ELAC2c.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
17g.12992947C=CA2248421596ELAC2c.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=)
17g.12992947C>GCA398222245ELAC2c.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)
17g.12992947C>TCA498009639ELAC2c.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=)
17g.12992948T>ACA398222246ELAC2c.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)
17g.12992948T>CCA8400825ELAC2c.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
17g.12992948T>GCA398222247ELAC2c.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
17g.12992948T=CA2248421600ELAC2c.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=)
17g.12992948_12992949insCCAGGCCGCCCA8400824ELAC2c.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
17g.12992949T>ACA398222248ELAC2c.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)
17g.12992949T>CCA8400827ELAC2c.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
17g.12992949T>GCA398222249ELAC2c.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)
17g.12992949T=CA2248421607ELAC2c.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=)
17g.12992949_12992961delinsTCTCCCTGCGCTCCA2248421605ELAC2c.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=)
17g.12992949_12992950insGCCAGCA8400826ELAC2c.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
17g.12992950C>ACA398222250ELAC2c.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)
17g.12992950C>GCA398222251ELAC2c.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)
17g.12992950C>TCA498009640ELAC2c.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
17g.12992954_12992965delCA625311401ELAC2c.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
17g.12992951T>ACA398222252ELAC2c.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)
17g.12992951T>CCA398222254ELAC2c.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
17g.12992951T>GCA398222253ELAC2c.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)
17g.12992952C>ACA398222255ELAC2c.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)
17g.12992952C=CA2248421615ELAC2c.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=)
17g.12992952C>GCA398222256ELAC2c.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
17g.12992952C>TCA398222257ELAC2c.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)
17g.12992953C>ACA398222258ELAC2c.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
17g.12992953C=CA2248421619ELAC2c.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=)
17g.12992953C>GCA398222259ELAC2c.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)
17g.12992953C>TCA498009641ELAC2c.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=)
17g.12992953_12992954insAGGCCGCCA8400828ELAC2c.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
17g.12992953_12992954insAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCA625311402ELAC2c.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
17g.12992953_12992954insAGGCA2636193341ELAC2c.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
17g.12992954C>ACA398222260ELAC2c.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
17g.12992954C=CA2248421622ELAC2c.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=)
17g.12992954C>GCA288075069ELAC2c.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
17g.12992954C>TCA398222261ELAC2c.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
17g.12992956_12992969dupCA2636193342ELAC2c.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
17g.12992955T>ACA398222262ELAC2c.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
17g.12992955T>CCA398222263ELAC2c.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
17g.12992955T>GCA498009644ELAC2c.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
17g.12992955T=CA2248421625ELAC2c.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=)
17g.12992956G>ACA498009645ELAC2c.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=)
17g.12992956G>CCA498009646ELAC2c.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=)
17g.12992956G>TCA498009647ELAC2c.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
17g.12992957C>ACA398222264ELAC2c.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
17g.12992957C=CA2248421630ELAC2c.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=)
17g.12992957C>GCA398222265ELAC2c.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
17g.12992957C>TCA117235ELAC2c.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
17g.12992958G>ACA8400829ELAC2c.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
17g.12992958G>CCA398222266ELAC2c.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)
17g.12992958G=CA2248421641ELAC2c.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=)
17g.12992958G>TCA398222267ELAC2c.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
17g.12992959C>ACA398222268ELAC2c.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)
17g.12992959C>GCA398222269ELAC2c.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)
17g.12992959C>TCA498009648ELAC2c.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=)
17g.12992960T>ACA398222270ELAC2c.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)
17g.12992960T>CCA398222271ELAC2c.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
17g.12992960T>GCA398222272ELAC2c.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)
17g.12992961C>ACA398222273ELAC2c.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
17g.12992961C=CA2248421644ELAC2c.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=)
17g.12992961C>GCA398222274ELAC2c.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)
17g.12992961C>TCA398222275ELAC2c.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)
17g.12992962delCA2636193347ELAC2c.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
17g.12992962C>ACA398222276ELAC2c.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)
17g.12992962C>GCA398222277ELAC2c.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)
17g.12992962C>TCA498009650ELAC2c.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
17g.12992963T>ACA398222280ELAC2c.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
17g.12992963T>CCA398222278ELAC2c.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)
17g.12992963T>GCA398222279ELAC2c.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
17g.12992964C>ACA398222281ELAC2c.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)
17g.12992964C>GCA398222282ELAC2c.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
17g.12992964C>TCA398222283ELAC2c.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)
17g.12992965C>ACA398222284ELAC2c.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)
17g.12992965C=CA2248421647ELAC2c.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=)
17g.12992965C>GCA398222285ELAC2c.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)
17g.12992965C>TCA398222286ELAC2c.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
17g.12992966A=CA2248421652ELAC2c.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=)
17g.12992966A>CCA398222287ELAC2c.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)
17g.12992966A>GCA8400830ELAC2c.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
17g.12992966A>TCA398222288ELAC2c.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)
17g.12992967T>ACA398222289ELAC2c.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)
17g.12992967T>CCA398222290ELAC2c.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
17g.12992967T>GCA288075077ELAC2c.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
17g.12992967T=CA2248421655ELAC2c.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=)
17g.12992968C>ACA398222292ELAC2c.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
17g.12992968C>GCA398222291ELAC2c.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)
17g.12992968C>TCA498009652ELAC2c.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=)
17g.12992969T>ACA398222293ELAC2c.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)
17g.12992969T>CCA398222294ELAC2c.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)
17g.12992969T>GCA398222295ELAC2c.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)
17g.12992970C>ACA398222296ELAC2c.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)
17g.12992970C=CA2248421662ELAC2c.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=)
17g.12992970C>GCA398222297ELAC2c.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)
17g.12992970C>TCA398222298ELAC2c.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
17g.12992971delCA2840256618ELAC2c.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?)
17g.12992971C>ACA398222299ELAC2c.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)
17g.12992971C=CA2248421665ELAC2c.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=)
17g.12992971C>GCA398222300ELAC2c.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)
17g.12992971C>TCA498009653ELAC2c.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
17g.12992972T>ACA398222301ELAC2c.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)
17g.12992972T>CCA398222302ELAC2c.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)
17g.12992972T>GCA398222303ELAC2c.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)
17g.12992973C>ACA398222304ELAC2c.2326G>T (p.Glu776Ter)
c.2269G>T (p.Glu757Ter)
c.2206G>T (p.Glu736Ter)
n.2213G>T
n.2155G>T
n.3156G>T
n.1872G>T
c.1725G>T
c.2323G>T (p.Glu775Ter)
c.2485G>T (p.Glu829Ter)
c.2407G>T (p.Glu803Ter)
c.2404G>T (p.Glu802Ter)
c.2401G>T (p.Glu801Ter)
c.2365G>T (p.Glu789Ter)
c.2284G>T (p.Glu762Ter)
c.2203G>T (p.Glu735Ter)
c.2122G>T (p.Glu708Ter)
c.2119G>T (p.Glu707Ter)
c.2044G>T (p.Glu682Ter)
c.2041G>T (p.Glu681Ter)
17g.12992973C=CA2248421673ELAC2c.2326G= (p.Glu776=)
c.2269G= (p.Glu757=)
c.2206G= (p.Glu736=)
n.2213G=
n.2155G=
n.3156G=
n.1872G=
c.1725G=
c.2323G= (p.Glu775=)
c.2485G= (p.Glu829=)
c.2407G= (p.Glu803=)
c.2404G= (p.Glu802=)
c.2401G= (p.Glu801=)
c.2365G= (p.Glu789=)
c.2284G= (p.Glu762=)
c.2203G= (p.Glu735=)
c.2122G= (p.Glu708=)
c.2119G= (p.Glu707=)
c.2044G= (p.Glu682=)
c.2041G= (p.Glu681=)
17g.12992973C>GCA8400832ELAC2c.2326G>C (p.Glu776Gln)
c.2269G>C (p.Glu757Gln)
c.2206G>C (p.Glu736Gln)
n.2213G>C
n.2155G>C
n.3156G>C
n.1872G>C
c.1725G>C
c.2323G>C (p.Glu775Gln)
c.2485G>C (p.Glu829Gln)
c.2407G>C (p.Glu803Gln)
c.2404G>C (p.Glu802Gln)
c.2401G>C (p.Glu801Gln)
c.2365G>C (p.Glu789Gln)
c.2284G>C (p.Glu762Gln)
c.2203G>C (p.Glu735Gln)
c.2122G>C (p.Glu708Gln)
c.2119G>C (p.Glu707Gln)
c.2044G>C (p.Glu682Gln)
c.2041G>C (p.Glu681Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.12992973C>TCA8400831ELAC2c.2326G>A (p.Glu776Lys)
c.2269G>A (p.Glu757Lys)
c.2206G>A (p.Glu736Lys)
n.2213G>A
n.2155G>A
n.3156G>A
n.1872G>A
c.1725G>A
c.2323G>A (p.Glu775Lys)
c.2485G>A (p.Glu829Lys)
c.2407G>A (p.Glu803Lys)
c.2404G>A (p.Glu802Lys)
c.2401G>A (p.Glu801Lys)
c.2365G>A (p.Glu789Lys)
c.2284G>A (p.Glu762Lys)
c.2203G>A (p.Glu735Lys)
c.2122G>A (p.Glu708Lys)
c.2119G>A (p.Glu707Lys)
c.2044G>A (p.Glu682Lys)
c.2041G>A (p.Glu681Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.12992974G>ACA8400833ELAC2c.2325C>T (p.Ile775=)
c.2268C>T (p.Ile756=)
c.2205C>T (p.Ile735=)
n.2212C>T
n.2154C>T
n.3155C>T
n.1871C>T
c.1724C>T
c.2322C>T (p.Ile774=)
c.2484C>T (p.Ile828=)
c.2406C>T (p.Ile802=)
c.2403C>T (p.Ile801=)
c.2400C>T (p.Ile800=)
c.2364C>T (p.Ile788=)
c.2283C>T (p.Ile761=)
c.2202C>T (p.Ile734=)
c.2121C>T (p.Ile707=)
c.2118C>T (p.Ile706=)
c.2043C>T (p.Ile681=)
c.2040C>T (p.Ile680=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.12992974G>CCA398222305ELAC2c.2325C>G (p.Ile775Met)
c.2268C>G (p.Ile756Met)
c.2205C>G (p.Ile735Met)
n.2212C>G
n.2154C>G
n.3155C>G
n.1871C>G
c.1724C>G
c.2322C>G (p.Ile774Met)
c.2484C>G (p.Ile828Met)
c.2406C>G (p.Ile802Met)
c.2403C>G (p.Ile801Met)
c.2400C>G (p.Ile800Met)
c.2364C>G (p.Ile788Met)
c.2283C>G (p.Ile761Met)
c.2202C>G (p.Ile734Met)
c.2121C>G (p.Ile707Met)
c.2118C>G (p.Ile706Met)
c.2043C>G (p.Ile681Met)
c.2040C>G (p.Ile680Met)
17g.12992974G=CA2248421676ELAC2c.2325C= (p.Ile775=)
c.2268C= (p.Ile756=)
c.2205C= (p.Ile735=)
n.2212C=
n.2154C=
n.3155C=
n.1871C=
c.1724C=
c.2322C= (p.Ile774=)
c.2484C= (p.Ile828=)
c.2406C= (p.Ile802=)
c.2403C= (p.Ile801=)
c.2400C= (p.Ile800=)
c.2364C= (p.Ile788=)
c.2283C= (p.Ile761=)
c.2202C= (p.Ile734=)
c.2121C= (p.Ile707=)
c.2118C= (p.Ile706=)
c.2043C= (p.Ile681=)
c.2040C= (p.Ile680=)
17g.12992974G>TCA498009655ELAC2c.2325C>A (p.Ile775=)
c.2268C>A (p.Ile756=)
c.2205C>A (p.Ile735=)
n.2212C>A
n.2154C>A
n.3155C>A
n.1871C>A
c.1724C>A
c.2322C>A (p.Ile774=)
c.2484C>A (p.Ile828=)
c.2406C>A (p.Ile802=)
c.2403C>A (p.Ile801=)
c.2400C>A (p.Ile800=)
c.2364C>A (p.Ile788=)
c.2283C>A (p.Ile761=)
c.2202C>A (p.Ile734=)
c.2121C>A (p.Ile707=)
c.2118C>A (p.Ile706=)
c.2043C>A (p.Ile681=)
c.2040C>A (p.Ile680=)
17g.12992975A=CA2248421682ELAC2c.2324T= (p.Ile775=)
c.2267T= (p.Ile756=)
c.2204T= (p.Ile735=)
n.2211T=
n.2153T=
n.3154T=
n.1870T=
c.1723T=
c.2321T= (p.Ile774=)
c.2483T= (p.Ile828=)
c.2405T= (p.Ile802=)
c.2402T= (p.Ile801=)
c.2399T= (p.Ile800=)
c.2363T= (p.Ile788=)
c.2282T= (p.Ile761=)
c.2201T= (p.Ile734=)
c.2120T= (p.Ile707=)
c.2117T= (p.Ile706=)
c.2042T= (p.Ile681=)
c.2039T= (p.Ile680=)
17g.12992975A>CCA398222306ELAC2c.2324T>G (p.Ile775Ser)
c.2267T>G (p.Ile756Ser)
c.2204T>G (p.Ile735Ser)
n.2211T>G
n.2153T>G
n.3154T>G
n.1870T>G
c.1723T>G
c.2321T>G (p.Ile774Ser)
c.2483T>G (p.Ile828Ser)
c.2405T>G (p.Ile802Ser)
c.2402T>G (p.Ile801Ser)
c.2399T>G (p.Ile800Ser)
c.2363T>G (p.Ile788Ser)
c.2282T>G (p.Ile761Ser)
c.2201T>G (p.Ile734Ser)
c.2120T>G (p.Ile707Ser)
c.2117T>G (p.Ile706Ser)
c.2042T>G (p.Ile681Ser)
c.2039T>G (p.Ile680Ser)
17g.12992975A>GCA398222307ELAC2c.2324T>C (p.Ile775Thr)
c.2267T>C (p.Ile756Thr)
c.2204T>C (p.Ile735Thr)
n.2211T>C
n.2153T>C
n.3154T>C
n.1870T>C
c.1723T>C
c.2321T>C (p.Ile774Thr)
c.2483T>C (p.Ile828Thr)
c.2405T>C (p.Ile802Thr)
c.2402T>C (p.Ile801Thr)
c.2399T>C (p.Ile800Thr)
c.2363T>C (p.Ile788Thr)
c.2282T>C (p.Ile761Thr)
c.2201T>C (p.Ile734Thr)
c.2120T>C (p.Ile707Thr)
c.2117T>C (p.Ile706Thr)
c.2042T>C (p.Ile681Thr)
c.2039T>C (p.Ile680Thr)
17g.12992975A>TCA398222308ELAC2c.2324T>A (p.Ile775Asn)
c.2267T>A (p.Ile756Asn)
c.2204T>A (p.Ile735Asn)
n.2211T>A
n.2153T>A
n.3154T>A
n.1870T>A
c.1723T>A
c.2321T>A (p.Ile774Asn)
c.2483T>A (p.Ile828Asn)
c.2405T>A (p.Ile802Asn)
c.2402T>A (p.Ile801Asn)
c.2399T>A (p.Ile800Asn)
c.2363T>A (p.Ile788Asn)
c.2282T>A (p.Ile761Asn)
c.2201T>A (p.Ile734Asn)
c.2120T>A (p.Ile707Asn)
c.2117T>A (p.Ile706Asn)
c.2042T>A (p.Ile681Asn)
c.2039T>A (p.Ile680Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched