Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.12992861G>ACA398222084ELAC2c.2438C>T (p.Ala813Val)
c.2381C>T (p.Ala794Val)
c.2318C>T (p.Ala773Val)
n.2325C>T
n.2267C>T
n.3268C>T
n.1984C>T
c.1837C>T
c.2435C>T (p.Ala812Val)
c.2597C>T (p.Ala866Val)
c.2519C>T (p.Ala840Val)
c.2516C>T (p.Ala839Val)
c.2513C>T (p.Ala838Val)
c.2477C>T (p.Ala826Val)
c.2396C>T (p.Ala799Val)
c.2315C>T (p.Ala772Val)
c.2234C>T (p.Ala745Val)
c.2231C>T (p.Ala744Val)
c.2156C>T (p.Ala719Val)
c.2153C>T (p.Ala718Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.12992861G>CCA398222085ELAC2c.2438C>G (p.Ala813Gly)
c.2381C>G (p.Ala794Gly)
c.2318C>G (p.Ala773Gly)
n.2325C>G
n.2267C>G
n.3268C>G
n.1984C>G
c.1837C>G
c.2435C>G (p.Ala812Gly)
c.2597C>G (p.Ala866Gly)
c.2519C>G (p.Ala840Gly)
c.2516C>G (p.Ala839Gly)
c.2513C>G (p.Ala838Gly)
c.2477C>G (p.Ala826Gly)
c.2396C>G (p.Ala799Gly)
c.2315C>G (p.Ala772Gly)
c.2234C>G (p.Ala745Gly)
c.2231C>G (p.Ala744Gly)
c.2156C>G (p.Ala719Gly)
c.2153C>G (p.Ala718Gly)
 gnomAD v4
17g.12992861G=CA2248421376ELAC2c.2438C= (p.Ala813=)
c.2381C= (p.Ala794=)
c.2318C= (p.Ala773=)
n.2325C=
n.2267C=
n.3268C=
n.1984C=
c.1837C=
c.2435C= (p.Ala812=)
c.2597C= (p.Ala866=)
c.2519C= (p.Ala840=)
c.2516C= (p.Ala839=)
c.2513C= (p.Ala838=)
c.2477C= (p.Ala826=)
c.2396C= (p.Ala799=)
c.2315C= (p.Ala772=)
c.2234C= (p.Ala745=)
c.2231C= (p.Ala744=)
c.2156C= (p.Ala719=)
c.2153C= (p.Ala718=)
17g.12992861G>TCA398222086ELAC2c.2438C>A (p.Ala813Asp)
c.2381C>A (p.Ala794Asp)
c.2318C>A (p.Ala773Asp)
n.2325C>A
n.2267C>A
n.3268C>A
n.1984C>A
c.1837C>A
c.2435C>A (p.Ala812Asp)
c.2597C>A (p.Ala866Asp)
c.2519C>A (p.Ala840Asp)
c.2516C>A (p.Ala839Asp)
c.2513C>A (p.Ala838Asp)
c.2477C>A (p.Ala826Asp)
c.2396C>A (p.Ala799Asp)
c.2315C>A (p.Ala772Asp)
c.2234C>A (p.Ala745Asp)
c.2231C>A (p.Ala744Asp)
c.2156C>A (p.Ala719Asp)
c.2153C>A (p.Ala718Asp)
17g.12992862C>ACA398222087ELAC2c.2437G>T (p.Ala813Ser)
c.2380G>T (p.Ala794Ser)
c.2317G>T (p.Ala773Ser)
n.2324G>T
n.2266G>T
n.3267G>T
n.1983G>T
c.1836G>T
c.2434G>T (p.Ala812Ser)
c.2596G>T (p.Ala866Ser)
c.2518G>T (p.Ala840Ser)
c.2515G>T (p.Ala839Ser)
c.2512G>T (p.Ala838Ser)
c.2476G>T (p.Ala826Ser)
c.2395G>T (p.Ala799Ser)
c.2314G>T (p.Ala772Ser)
c.2233G>T (p.Ala745Ser)
c.2230G>T (p.Ala744Ser)
c.2155G>T (p.Ala719Ser)
c.2152G>T (p.Ala718Ser)
 gnomAD v4
17g.12992862C=CA2248421379ELAC2c.2437G= (p.Ala813=)
c.2380G= (p.Ala794=)
c.2317G= (p.Ala773=)
n.2324G=
n.2266G=
n.3267G=
n.1983G=
c.1836G=
c.2434G= (p.Ala812=)
c.2596G= (p.Ala866=)
c.2518G= (p.Ala840=)
c.2515G= (p.Ala839=)
c.2512G= (p.Ala838=)
c.2476G= (p.Ala826=)
c.2395G= (p.Ala799=)
c.2314G= (p.Ala772=)
c.2233G= (p.Ala745=)
c.2230G= (p.Ala744=)
c.2155G= (p.Ala719=)
c.2152G= (p.Ala718=)
17g.12992862C>GCA8400793ELAC2c.2437G>C (p.Ala813Pro)
c.2380G>C (p.Ala794Pro)
c.2317G>C (p.Ala773Pro)
n.2324G>C
n.2266G>C
n.3267G>C
n.1983G>C
c.1836G>C
c.2434G>C (p.Ala812Pro)
c.2596G>C (p.Ala866Pro)
c.2518G>C (p.Ala840Pro)
c.2515G>C (p.Ala839Pro)
c.2512G>C (p.Ala838Pro)
c.2476G>C (p.Ala826Pro)
c.2395G>C (p.Ala799Pro)
c.2314G>C (p.Ala772Pro)
c.2233G>C (p.Ala745Pro)
c.2230G>C (p.Ala744Pro)
c.2155G>C (p.Ala719Pro)
c.2152G>C (p.Ala718Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.12992862C>TCA398222088ELAC2c.2437G>A (p.Ala813Thr)
c.2380G>A (p.Ala794Thr)
c.2317G>A (p.Ala773Thr)
n.2324G>A
n.2266G>A
n.3267G>A
n.1983G>A
c.1836G>A
c.2434G>A (p.Ala812Thr)
c.2596G>A (p.Ala866Thr)
c.2518G>A (p.Ala840Thr)
c.2515G>A (p.Ala839Thr)
c.2512G>A (p.Ala838Thr)
c.2476G>A (p.Ala826Thr)
c.2395G>A (p.Ala799Thr)
c.2314G>A (p.Ala772Thr)
c.2233G>A (p.Ala745Thr)
c.2230G>A (p.Ala744Thr)
c.2155G>A (p.Ala719Thr)
c.2152G>A (p.Ala718Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.12992863C>ACA498009576ELAC2c.2436G>T (p.Arg812=)
c.2379G>T (p.Arg793=)
c.2316G>T (p.Arg772=)
n.2323G>T
n.2265G>T
n.3266G>T
n.1982G>T
c.1835G>T
c.2433G>T (p.Arg811=)
c.2595G>T (p.Arg865=)
c.2517G>T (p.Arg839=)
c.2514G>T (p.Arg838=)
c.2511G>T (p.Arg837=)
c.2475G>T (p.Arg825=)
c.2394G>T (p.Arg798=)
c.2313G>T (p.Arg771=)
c.2232G>T (p.Arg744=)
c.2229G>T (p.Arg743=)
c.2154G>T (p.Arg718=)
c.2151G>T (p.Arg717=)
17g.12992863C=CA2248421381ELAC2c.2436G= (p.Arg812=)
c.2379G= (p.Arg793=)
c.2316G= (p.Arg772=)
n.2323G=
n.2265G=
n.3266G=
n.1982G=
c.1835G=
c.2433G= (p.Arg811=)
c.2595G= (p.Arg865=)
c.2517G= (p.Arg839=)
c.2514G= (p.Arg838=)
c.2511G= (p.Arg837=)
c.2475G= (p.Arg825=)
c.2394G= (p.Arg798=)
c.2313G= (p.Arg771=)
c.2232G= (p.Arg744=)
c.2229G= (p.Arg743=)
c.2154G= (p.Arg718=)
c.2151G= (p.Arg717=)
17g.12992863C>GCA498009577ELAC2c.2436G>C (p.Arg812=)
c.2379G>C (p.Arg793=)
c.2316G>C (p.Arg772=)
n.2323G>C
n.2265G>C
n.3266G>C
n.1982G>C
c.1835G>C
c.2433G>C (p.Arg811=)
c.2595G>C (p.Arg865=)
c.2517G>C (p.Arg839=)
c.2514G>C (p.Arg838=)
c.2511G>C (p.Arg837=)
c.2475G>C (p.Arg825=)
c.2394G>C (p.Arg798=)
c.2313G>C (p.Arg771=)
c.2232G>C (p.Arg744=)
c.2229G>C (p.Arg743=)
c.2154G>C (p.Arg718=)
c.2151G>C (p.Arg717=)
17g.12992863C>TCA498009578ELAC2c.2436G>A (p.Arg812=)
c.2379G>A (p.Arg793=)
c.2316G>A (p.Arg772=)
n.2323G>A
n.2265G>A
n.3266G>A
n.1982G>A
c.1835G>A
c.2433G>A (p.Arg811=)
c.2595G>A (p.Arg865=)
c.2517G>A (p.Arg839=)
c.2514G>A (p.Arg838=)
c.2511G>A (p.Arg837=)
c.2475G>A (p.Arg825=)
c.2394G>A (p.Arg798=)
c.2313G>A (p.Arg771=)
c.2232G>A (p.Arg744=)
c.2229G>A (p.Arg743=)
c.2154G>A (p.Arg718=)
c.2151G>A (p.Arg717=)
 dbSNP gnomAD v2 gnomAD v4
17g.12992864C>ACA8400794ELAC2c.2435G>T (p.Arg812Leu)
c.2378G>T (p.Arg793Leu)
c.2315G>T (p.Arg772Leu)
n.2322G>T
n.2264G>T
n.3265G>T
n.1981G>T
c.1834G>T
c.2432G>T (p.Arg811Leu)
c.2594G>T (p.Arg865Leu)
c.2516G>T (p.Arg839Leu)
c.2513G>T (p.Arg838Leu)
c.2510G>T (p.Arg837Leu)
c.2474G>T (p.Arg825Leu)
c.2393G>T (p.Arg798Leu)
c.2312G>T (p.Arg771Leu)
c.2231G>T (p.Arg744Leu)
c.2228G>T (p.Arg743Leu)
c.2153G>T (p.Arg718Leu)
c.2150G>T (p.Arg717Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.12992864C=CA2248421384ELAC2c.2435G= (p.Arg812=)
c.2378G= (p.Arg793=)
c.2315G= (p.Arg772=)
n.2322G=
n.2264G=
n.3265G=
n.1981G=
c.1834G=
c.2432G= (p.Arg811=)
c.2594G= (p.Arg865=)
c.2516G= (p.Arg839=)
c.2513G= (p.Arg838=)
c.2510G= (p.Arg837=)
c.2474G= (p.Arg825=)
c.2393G= (p.Arg798=)
c.2312G= (p.Arg771=)
c.2231G= (p.Arg744=)
c.2228G= (p.Arg743=)
c.2153G= (p.Arg718=)
c.2150G= (p.Arg717=)
17g.12992864C>GCA398222090ELAC2c.2435G>C (p.Arg812Pro)
c.2378G>C (p.Arg793Pro)
c.2315G>C (p.Arg772Pro)
n.2322G>C
n.2264G>C
n.3265G>C
n.1981G>C
c.1834G>C
c.2432G>C (p.Arg811Pro)
c.2594G>C (p.Arg865Pro)
c.2516G>C (p.Arg839Pro)
c.2513G>C (p.Arg838Pro)
c.2510G>C (p.Arg837Pro)
c.2474G>C (p.Arg825Pro)
c.2393G>C (p.Arg798Pro)
c.2312G>C (p.Arg771Pro)
c.2231G>C (p.Arg744Pro)
c.2228G>C (p.Arg743Pro)
c.2153G>C (p.Arg718Pro)
c.2150G>C (p.Arg717Pro)
 gnomAD v4
17g.12992864C>TCA398222089ELAC2c.2435G>A (p.Arg812Gln)
c.2378G>A (p.Arg793Gln)
c.2315G>A (p.Arg772Gln)
n.2322G>A
n.2264G>A
n.3265G>A
n.1981G>A
c.1834G>A
c.2432G>A (p.Arg811Gln)
c.2594G>A (p.Arg865Gln)
c.2516G>A (p.Arg839Gln)
c.2513G>A (p.Arg838Gln)
c.2510G>A (p.Arg837Gln)
c.2474G>A (p.Arg825Gln)
c.2393G>A (p.Arg798Gln)
c.2312G>A (p.Arg771Gln)
c.2231G>A (p.Arg744Gln)
c.2228G>A (p.Arg743Gln)
c.2153G>A (p.Arg718Gln)
c.2150G>A (p.Arg717Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.12992865G>ACA8400795ELAC2c.2434C>T (p.Arg812Trp)
c.2377C>T (p.Arg793Trp)
c.2314C>T (p.Arg772Trp)
n.2321C>T
n.2263C>T
n.3264C>T
n.1980C>T
c.1833C>T
c.2431C>T (p.Arg811Trp)
c.2593C>T (p.Arg865Trp)
c.2515C>T (p.Arg839Trp)
c.2512C>T (p.Arg838Trp)
c.2509C>T (p.Arg837Trp)
c.2473C>T (p.Arg825Trp)
c.2392C>T (p.Arg798Trp)
c.2311C>T (p.Arg771Trp)
c.2230C>T (p.Arg744Trp)
c.2227C>T (p.Arg743Trp)
c.2152C>T (p.Arg718Trp)
c.2149C>T (p.Arg717Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.12992865G>CCA398222091ELAC2c.2434C>G (p.Arg812Gly)
c.2377C>G (p.Arg793Gly)
c.2314C>G (p.Arg772Gly)
n.2321C>G
n.2263C>G
n.3264C>G
n.1980C>G
c.1833C>G
c.2431C>G (p.Arg811Gly)
c.2593C>G (p.Arg865Gly)
c.2515C>G (p.Arg839Gly)
c.2512C>G (p.Arg838Gly)
c.2509C>G (p.Arg837Gly)
c.2473C>G (p.Arg825Gly)
c.2392C>G (p.Arg798Gly)
c.2311C>G (p.Arg771Gly)
c.2230C>G (p.Arg744Gly)
c.2227C>G (p.Arg743Gly)
c.2152C>G (p.Arg718Gly)
c.2149C>G (p.Arg717Gly)
17g.12992865G=CA2248421388ELAC2c.2434C= (p.Arg812=)
c.2377C= (p.Arg793=)
c.2314C= (p.Arg772=)
n.2321C=
n.2263C=
n.3264C=
n.1980C=
c.1833C=
c.2431C= (p.Arg811=)
c.2593C= (p.Arg865=)
c.2515C= (p.Arg839=)
c.2512C= (p.Arg838=)
c.2509C= (p.Arg837=)
c.2473C= (p.Arg825=)
c.2392C= (p.Arg798=)
c.2311C= (p.Arg771=)
c.2230C= (p.Arg744=)
c.2227C= (p.Arg743=)
c.2152C= (p.Arg718=)
c.2149C= (p.Arg717=)
17g.12992865G>TCA498009579ELAC2c.2434C>A (p.Arg812=)
c.2377C>A (p.Arg793=)
c.2314C>A (p.Arg772=)
n.2321C>A
n.2263C>A
n.3264C>A
n.1980C>A
c.1833C>A
c.2431C>A (p.Arg811=)
c.2593C>A (p.Arg865=)
c.2515C>A (p.Arg839=)
c.2512C>A (p.Arg838=)
c.2509C>A (p.Arg837=)
c.2473C>A (p.Arg825=)
c.2392C>A (p.Arg798=)
c.2311C>A (p.Arg771=)
c.2230C>A (p.Arg744=)
c.2227C>A (p.Arg743=)
c.2152C>A (p.Arg718=)
c.2149C>A (p.Arg717=)
17g.12992866C>ACA398222092ELAC2c.2433G>T (p.Lys811Asn)
c.2376G>T (p.Lys792Asn)
c.2313G>T (p.Lys771Asn)
n.2320G>T
n.2262G>T
n.3263G>T
n.1979G>T
c.1832G>T
c.2430G>T (p.Lys810Asn)
c.2592G>T (p.Lys864Asn)
c.2514G>T (p.Lys838Asn)
c.2511G>T (p.Lys837Asn)
c.2508G>T (p.Lys836Asn)
c.2472G>T (p.Lys824Asn)
c.2391G>T (p.Lys797Asn)
c.2310G>T (p.Lys770Asn)
c.2229G>T (p.Lys743Asn)
c.2226G>T (p.Lys742Asn)
c.2151G>T (p.Lys717Asn)
c.2148G>T (p.Lys716Asn)
17g.12992866C>GCA398222093ELAC2c.2433G>C (p.Lys811Asn)
c.2376G>C (p.Lys792Asn)
c.2313G>C (p.Lys771Asn)
n.2320G>C
n.2262G>C
n.3263G>C
n.1979G>C
c.1832G>C
c.2430G>C (p.Lys810Asn)
c.2592G>C (p.Lys864Asn)
c.2514G>C (p.Lys838Asn)
c.2511G>C (p.Lys837Asn)
c.2508G>C (p.Lys836Asn)
c.2472G>C (p.Lys824Asn)
c.2391G>C (p.Lys797Asn)
c.2310G>C (p.Lys770Asn)
c.2229G>C (p.Lys743Asn)
c.2226G>C (p.Lys742Asn)
c.2151G>C (p.Lys717Asn)
c.2148G>C (p.Lys716Asn)
17g.12992866C>TCA498009580ELAC2c.2433G>A (p.Lys811=)
c.2376G>A (p.Lys792=)
c.2313G>A (p.Lys771=)
n.2320G>A
n.2262G>A
n.3263G>A
n.1979G>A
c.1832G>A
c.2430G>A (p.Lys810=)
c.2592G>A (p.Lys864=)
c.2514G>A (p.Lys838=)
c.2511G>A (p.Lys837=)
c.2508G>A (p.Lys836=)
c.2472G>A (p.Lys824=)
c.2391G>A (p.Lys797=)
c.2310G>A (p.Lys770=)
c.2229G>A (p.Lys743=)
c.2226G>A (p.Lys742=)
c.2151G>A (p.Lys717=)
c.2148G>A (p.Lys716=)
 dbSNP
17g.12992867T>ACA398222094ELAC2c.2432A>T (p.Lys811Met)
c.2375A>T (p.Lys792Met)
c.2312A>T (p.Lys771Met)
n.2319A>T
n.2261A>T
n.3262A>T
n.1978A>T
c.1831A>T
c.2429A>T (p.Lys810Met)
c.2591A>T (p.Lys864Met)
c.2513A>T (p.Lys838Met)
c.2510A>T (p.Lys837Met)
c.2507A>T (p.Lys836Met)
c.2471A>T (p.Lys824Met)
c.2390A>T (p.Lys797Met)
c.2309A>T (p.Lys770Met)
c.2228A>T (p.Lys743Met)
c.2225A>T (p.Lys742Met)
c.2150A>T (p.Lys717Met)
c.2147A>T (p.Lys716Met)
17g.12992867T>CCA398222095ELAC2c.2432A>G (p.Lys811Arg)
c.2375A>G (p.Lys792Arg)
c.2312A>G (p.Lys771Arg)
n.2319A>G
n.2261A>G
n.3262A>G
n.1978A>G
c.1831A>G
c.2429A>G (p.Lys810Arg)
c.2591A>G (p.Lys864Arg)
c.2513A>G (p.Lys838Arg)
c.2510A>G (p.Lys837Arg)
c.2507A>G (p.Lys836Arg)
c.2471A>G (p.Lys824Arg)
c.2390A>G (p.Lys797Arg)
c.2309A>G (p.Lys770Arg)
c.2228A>G (p.Lys743Arg)
c.2225A>G (p.Lys742Arg)
c.2150A>G (p.Lys717Arg)
c.2147A>G (p.Lys716Arg)
17g.12992867T>GCA398222096ELAC2c.2432A>C (p.Lys811Thr)
c.2375A>C (p.Lys792Thr)
c.2312A>C (p.Lys771Thr)
n.2319A>C
n.2261A>C
n.3262A>C
n.1978A>C
c.1831A>C
c.2429A>C (p.Lys810Thr)
c.2591A>C (p.Lys864Thr)
c.2513A>C (p.Lys838Thr)
c.2510A>C (p.Lys837Thr)
c.2507A>C (p.Lys836Thr)
c.2471A>C (p.Lys824Thr)
c.2390A>C (p.Lys797Thr)
c.2309A>C (p.Lys770Thr)
c.2228A>C (p.Lys743Thr)
c.2225A>C (p.Lys742Thr)
c.2150A>C (p.Lys717Thr)
c.2147A>C (p.Lys716Thr)
17g.12992868T>ACA398222097ELAC2c.2431A>T (p.Lys811Ter)
c.2374A>T (p.Lys792Ter)
c.2311A>T (p.Lys771Ter)
n.2318A>T
n.2260A>T
n.3261A>T
n.1977A>T
c.1830A>T
c.2428A>T (p.Lys810Ter)
c.2590A>T (p.Lys864Ter)
c.2512A>T (p.Lys838Ter)
c.2509A>T (p.Lys837Ter)
c.2506A>T (p.Lys836Ter)
c.2470A>T (p.Lys824Ter)
c.2389A>T (p.Lys797Ter)
c.2308A>T (p.Lys770Ter)
c.2227A>T (p.Lys743Ter)
c.2224A>T (p.Lys742Ter)
c.2149A>T (p.Lys717Ter)
c.2146A>T (p.Lys716Ter)
17g.12992868T>CCA8400796ELAC2c.2431A>G (p.Lys811Glu)
c.2374A>G (p.Lys792Glu)
c.2311A>G (p.Lys771Glu)
n.2318A>G
n.2260A>G
n.3261A>G
n.1977A>G
c.1830A>G
c.2428A>G (p.Lys810Glu)
c.2590A>G (p.Lys864Glu)
c.2512A>G (p.Lys838Glu)
c.2509A>G (p.Lys837Glu)
c.2506A>G (p.Lys836Glu)
c.2470A>G (p.Lys824Glu)
c.2389A>G (p.Lys797Glu)
c.2308A>G (p.Lys770Glu)
c.2227A>G (p.Lys743Glu)
c.2224A>G (p.Lys742Glu)
c.2149A>G (p.Lys717Glu)
c.2146A>G (p.Lys716Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.12992868T>GCA398222098ELAC2c.2431A>C (p.Lys811Gln)
c.2374A>C (p.Lys792Gln)
c.2311A>C (p.Lys771Gln)
n.2318A>C
n.2260A>C
n.3261A>C
n.1977A>C
c.1830A>C
c.2428A>C (p.Lys810Gln)
c.2590A>C (p.Lys864Gln)
c.2512A>C (p.Lys838Gln)
c.2509A>C (p.Lys837Gln)
c.2506A>C (p.Lys836Gln)
c.2470A>C (p.Lys824Gln)
c.2389A>C (p.Lys797Gln)
c.2308A>C (p.Lys770Gln)
c.2227A>C (p.Lys743Gln)
c.2224A>C (p.Lys742Gln)
c.2149A>C (p.Lys717Gln)
c.2146A>C (p.Lys716Gln)
17g.12992868T=CA2248421391ELAC2c.2431A= (p.Lys811=)
c.2374A= (p.Lys792=)
c.2311A= (p.Lys771=)
n.2318A=
n.2260A=
n.3261A=
n.1977A=
c.1830A=
c.2428A= (p.Lys810=)
c.2590A= (p.Lys864=)
c.2512A= (p.Lys838=)
c.2509A= (p.Lys837=)
c.2506A= (p.Lys836=)
c.2470A= (p.Lys824=)
c.2389A= (p.Lys797=)
c.2308A= (p.Lys770=)
c.2227A= (p.Lys743=)
c.2224A= (p.Lys742=)
c.2149A= (p.Lys717=)
c.2146A= (p.Lys716=)
17g.12992869C>ACA398222099ELAC2c.2430G>T (p.Gln810His)
c.2373G>T (p.Gln791His)
c.2310G>T (p.Gln770His)
n.2317G>T
n.2259G>T
n.3260G>T
n.1976G>T
c.1829G>T
c.2427G>T (p.Gln809His)
c.2589G>T (p.Gln863His)
c.2511G>T (p.Gln837His)
c.2508G>T (p.Gln836His)
c.2505G>T (p.Gln835His)
c.2469G>T (p.Gln823His)
c.2388G>T (p.Gln796His)
c.2307G>T (p.Gln769His)
c.2226G>T (p.Gln742His)
c.2223G>T (p.Gln741His)
c.2148G>T (p.Gln716His)
c.2145G>T (p.Gln715His)
17g.12992869C>GCA398222100ELAC2c.2430G>C (p.Gln810His)
c.2373G>C (p.Gln791His)
c.2310G>C (p.Gln770His)
n.2317G>C
n.2259G>C
n.3260G>C
n.1976G>C
c.1829G>C
c.2427G>C (p.Gln809His)
c.2589G>C (p.Gln863His)
c.2511G>C (p.Gln837His)
c.2508G>C (p.Gln836His)
c.2505G>C (p.Gln835His)
c.2469G>C (p.Gln823His)
c.2388G>C (p.Gln796His)
c.2307G>C (p.Gln769His)
c.2226G>C (p.Gln742His)
c.2223G>C (p.Gln741His)
c.2148G>C (p.Gln716His)
c.2145G>C (p.Gln715His)
 gnomAD v4
17g.12992869C>TCA498009581ELAC2c.2430G>A (p.Gln810=)
c.2373G>A (p.Gln791=)
c.2310G>A (p.Gln770=)
n.2317G>A
n.2259G>A
n.3260G>A
n.1976G>A
c.1829G>A
c.2427G>A (p.Gln809=)
c.2589G>A (p.Gln863=)
c.2511G>A (p.Gln837=)
c.2508G>A (p.Gln836=)
c.2505G>A (p.Gln835=)
c.2469G>A (p.Gln823=)
c.2388G>A (p.Gln796=)
c.2307G>A (p.Gln769=)
c.2226G>A (p.Gln742=)
c.2223G>A (p.Gln741=)
c.2148G>A (p.Gln716=)
c.2145G>A (p.Gln715=)
17g.12992870T>ACA398222102ELAC2c.2429A>T (p.Gln810Leu)
c.2372A>T (p.Gln791Leu)
c.2309A>T (p.Gln770Leu)
n.2316A>T
n.2258A>T
n.3259A>T
n.1975A>T
c.1828A>T
c.2426A>T (p.Gln809Leu)
c.2588A>T (p.Gln863Leu)
c.2510A>T (p.Gln837Leu)
c.2507A>T (p.Gln836Leu)
c.2504A>T (p.Gln835Leu)
c.2468A>T (p.Gln823Leu)
c.2387A>T (p.Gln796Leu)
c.2306A>T (p.Gln769Leu)
c.2225A>T (p.Gln742Leu)
c.2222A>T (p.Gln741Leu)
c.2147A>T (p.Gln716Leu)
c.2144A>T (p.Gln715Leu)
17g.12992870T>CCA398222103ELAC2c.2429A>G (p.Gln810Arg)
c.2372A>G (p.Gln791Arg)
c.2309A>G (p.Gln770Arg)
n.2316A>G
n.2258A>G
n.3259A>G
n.1975A>G
c.1828A>G
c.2426A>G (p.Gln809Arg)
c.2588A>G (p.Gln863Arg)
c.2510A>G (p.Gln837Arg)
c.2507A>G (p.Gln836Arg)
c.2504A>G (p.Gln835Arg)
c.2468A>G (p.Gln823Arg)
c.2387A>G (p.Gln796Arg)
c.2306A>G (p.Gln769Arg)
c.2225A>G (p.Gln742Arg)
c.2222A>G (p.Gln741Arg)
c.2147A>G (p.Gln716Arg)
c.2144A>G (p.Gln715Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.12992870T>GCA398222101ELAC2c.2429A>C (p.Gln810Pro)
c.2372A>C (p.Gln791Pro)
c.2309A>C (p.Gln770Pro)
n.2316A>C
n.2258A>C
n.3259A>C
n.1975A>C
c.1828A>C
c.2426A>C (p.Gln809Pro)
c.2588A>C (p.Gln863Pro)
c.2510A>C (p.Gln837Pro)
c.2507A>C (p.Gln836Pro)
c.2504A>C (p.Gln835Pro)
c.2468A>C (p.Gln823Pro)
c.2387A>C (p.Gln796Pro)
c.2306A>C (p.Gln769Pro)
c.2225A>C (p.Gln742Pro)
c.2222A>C (p.Gln741Pro)
c.2147A>C (p.Gln716Pro)
c.2144A>C (p.Gln715Pro)
17g.12992870T=CA2248421394ELAC2c.2429A= (p.Gln810=)
c.2372A= (p.Gln791=)
c.2309A= (p.Gln770=)
n.2316A=
n.2258A=
n.3259A=
n.1975A=
c.1828A=
c.2426A= (p.Gln809=)
c.2588A= (p.Gln863=)
c.2510A= (p.Gln837=)
c.2507A= (p.Gln836=)
c.2504A= (p.Gln835=)
c.2468A= (p.Gln823=)
c.2387A= (p.Gln796=)
c.2306A= (p.Gln769=)
c.2225A= (p.Gln742=)
c.2222A= (p.Gln741=)
c.2147A= (p.Gln716=)
c.2144A= (p.Gln715=)
17g.12992871G>ACA398222105ELAC2c.2428C>T (p.Gln810Ter)
c.2371C>T (p.Gln791Ter)
c.2308C>T (p.Gln770Ter)
n.2315C>T
n.2257C>T
n.3258C>T
n.1974C>T
c.1827C>T
c.2425C>T (p.Gln809Ter)
c.2587C>T (p.Gln863Ter)
c.2509C>T (p.Gln837Ter)
c.2506C>T (p.Gln836Ter)
c.2503C>T (p.Gln835Ter)
c.2467C>T (p.Gln823Ter)
c.2386C>T (p.Gln796Ter)
c.2305C>T (p.Gln769Ter)
c.2224C>T (p.Gln742Ter)
c.2221C>T (p.Gln741Ter)
c.2146C>T (p.Gln716Ter)
c.2143C>T (p.Gln715Ter)
 dbSNP COSMIC
17g.12992871G>CCA398222104ELAC2c.2428C>G (p.Gln810Glu)
c.2371C>G (p.Gln791Glu)
c.2308C>G (p.Gln770Glu)
n.2315C>G
n.2257C>G
n.3258C>G
n.1974C>G
c.1827C>G
c.2425C>G (p.Gln809Glu)
c.2587C>G (p.Gln863Glu)
c.2509C>G (p.Gln837Glu)
c.2506C>G (p.Gln836Glu)
c.2503C>G (p.Gln835Glu)
c.2467C>G (p.Gln823Glu)
c.2386C>G (p.Gln796Glu)
c.2305C>G (p.Gln769Glu)
c.2224C>G (p.Gln742Glu)
c.2221C>G (p.Gln741Glu)
c.2146C>G (p.Gln716Glu)
c.2143C>G (p.Gln715Glu)
17g.12992871G>TCA398222106ELAC2c.2428C>A (p.Gln810Lys)
c.2371C>A (p.Gln791Lys)
c.2308C>A (p.Gln770Lys)
n.2315C>A
n.2257C>A
n.3258C>A
n.1974C>A
c.1827C>A
c.2425C>A (p.Gln809Lys)
c.2587C>A (p.Gln863Lys)
c.2509C>A (p.Gln837Lys)
c.2506C>A (p.Gln836Lys)
c.2503C>A (p.Gln835Lys)
c.2467C>A (p.Gln823Lys)
c.2386C>A (p.Gln796Lys)
c.2305C>A (p.Gln769Lys)
c.2224C>A (p.Gln742Lys)
c.2221C>A (p.Gln741Lys)
c.2146C>A (p.Gln716Lys)
c.2143C>A (p.Gln715Lys)
17g.12992872C>ACA398222107ELAC2c.2427G>T (p.Gln809His)
c.2370G>T (p.Gln790His)
c.2307G>T (p.Gln769His)
n.2314G>T
n.2256G>T
n.3257G>T
n.1973G>T
c.1826G>T
c.2424G>T (p.Gln808His)
c.2586G>T (p.Gln862His)
c.2508G>T (p.Gln836His)
c.2505G>T (p.Gln835His)
c.2502G>T (p.Gln834His)
c.2466G>T (p.Gln822His)
c.2385G>T (p.Gln795His)
c.2304G>T (p.Gln768His)
c.2223G>T (p.Gln741His)
c.2220G>T (p.Gln740His)
c.2145G>T (p.Gln715His)
c.2142G>T (p.Gln714His)
17g.12992872C=CA2248421398ELAC2c.2427G= (p.Gln809=)
c.2370G= (p.Gln790=)
c.2307G= (p.Gln769=)
n.2314G=
n.2256G=
n.3257G=
n.1973G=
c.1826G=
c.2424G= (p.Gln808=)
c.2586G= (p.Gln862=)
c.2508G= (p.Gln836=)
c.2505G= (p.Gln835=)
c.2502G= (p.Gln834=)
c.2466G= (p.Gln822=)
c.2385G= (p.Gln795=)
c.2304G= (p.Gln768=)
c.2223G= (p.Gln741=)
c.2220G= (p.Gln740=)
c.2145G= (p.Gln715=)
c.2142G= (p.Gln714=)
17g.12992872C>GCA398222108ELAC2c.2427G>C (p.Gln809His)
c.2370G>C (p.Gln790His)
c.2307G>C (p.Gln769His)
n.2314G>C
n.2256G>C
n.3257G>C
n.1973G>C
c.1826G>C
c.2424G>C (p.Gln808His)
c.2586G>C (p.Gln862His)
c.2508G>C (p.Gln836His)
c.2505G>C (p.Gln835His)
c.2502G>C (p.Gln834His)
c.2466G>C (p.Gln822His)
c.2385G>C (p.Gln795His)
c.2304G>C (p.Gln768His)
c.2223G>C (p.Gln741His)
c.2220G>C (p.Gln740His)
c.2145G>C (p.Gln715His)
c.2142G>C (p.Gln714His)
17g.12992872C>TCA8400797ELAC2c.2427G>A (p.Gln809=)
c.2370G>A (p.Gln790=)
c.2307G>A (p.Gln769=)
n.2314G>A
n.2256G>A
n.3257G>A
n.1973G>A
c.1826G>A
c.2424G>A (p.Gln808=)
c.2586G>A (p.Gln862=)
c.2508G>A (p.Gln836=)
c.2505G>A (p.Gln835=)
c.2502G>A (p.Gln834=)
c.2466G>A (p.Gln822=)
c.2385G>A (p.Gln795=)
c.2304G>A (p.Gln768=)
c.2223G>A (p.Gln741=)
c.2220G>A (p.Gln740=)
c.2145G>A (p.Gln715=)
c.2142G>A (p.Gln714=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.12992873T>ACA288074940ELAC2c.2426A>T (p.Gln809Leu)
c.2369A>T (p.Gln790Leu)
c.2306A>T (p.Gln769Leu)
n.2313A>T
n.2255A>T
n.3256A>T
n.1972A>T
c.1825A>T
c.2423A>T (p.Gln808Leu)
c.2585A>T (p.Gln862Leu)
c.2507A>T (p.Gln836Leu)
c.2504A>T (p.Gln835Leu)
c.2501A>T (p.Gln834Leu)
c.2465A>T (p.Gln822Leu)
c.2384A>T (p.Gln795Leu)
c.2303A>T (p.Gln768Leu)
c.2222A>T (p.Gln741Leu)
c.2219A>T (p.Gln740Leu)
c.2144A>T (p.Gln715Leu)
c.2141A>T (p.Gln714Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.12992873T>CCA398222110ELAC2c.2426A>G (p.Gln809Arg)
c.2369A>G (p.Gln790Arg)
c.2306A>G (p.Gln769Arg)
n.2313A>G
n.2255A>G
n.3256A>G
n.1972A>G
c.1825A>G
c.2423A>G (p.Gln808Arg)
c.2585A>G (p.Gln862Arg)
c.2507A>G (p.Gln836Arg)
c.2504A>G (p.Gln835Arg)
c.2501A>G (p.Gln834Arg)
c.2465A>G (p.Gln822Arg)
c.2384A>G (p.Gln795Arg)
c.2303A>G (p.Gln768Arg)
c.2222A>G (p.Gln741Arg)
c.2219A>G (p.Gln740Arg)
c.2144A>G (p.Gln715Arg)
c.2141A>G (p.Gln714Arg)
 gnomAD v4
17g.12992873T>GCA398222109ELAC2c.2426A>C (p.Gln809Pro)
c.2369A>C (p.Gln790Pro)
c.2306A>C (p.Gln769Pro)
n.2313A>C
n.2255A>C
n.3256A>C
n.1972A>C
c.1825A>C
c.2423A>C (p.Gln808Pro)
c.2585A>C (p.Gln862Pro)
c.2507A>C (p.Gln836Pro)
c.2504A>C (p.Gln835Pro)
c.2501A>C (p.Gln834Pro)
c.2465A>C (p.Gln822Pro)
c.2384A>C (p.Gln795Pro)
c.2303A>C (p.Gln768Pro)
c.2222A>C (p.Gln741Pro)
c.2219A>C (p.Gln740Pro)
c.2144A>C (p.Gln715Pro)
c.2141A>C (p.Gln714Pro)
17g.12992873T=CA2248421402ELAC2c.2426A= (p.Gln809=)
c.2369A= (p.Gln790=)
c.2306A= (p.Gln769=)
n.2313A=
n.2255A=
n.3256A=
n.1972A=
c.1825A=
c.2423A= (p.Gln808=)
c.2585A= (p.Gln862=)
c.2507A= (p.Gln836=)
c.2504A= (p.Gln835=)
c.2501A= (p.Gln834=)
c.2465A= (p.Gln822=)
c.2384A= (p.Gln795=)
c.2303A= (p.Gln768=)
c.2222A= (p.Gln741=)
c.2219A= (p.Gln740=)
c.2144A= (p.Gln715=)
c.2141A= (p.Gln714=)
17g.12992874G>ACA398222111ELAC2c.2425C>T (p.Gln809Ter)
c.2368C>T (p.Gln790Ter)
c.2305C>T (p.Gln769Ter)
n.2312C>T
n.2254C>T
n.3255C>T
n.1971C>T
c.1824C>T
c.2422C>T (p.Gln808Ter)
c.2584C>T (p.Gln862Ter)
c.2506C>T (p.Gln836Ter)
c.2503C>T (p.Gln835Ter)
c.2500C>T (p.Gln834Ter)
c.2464C>T (p.Gln822Ter)
c.2383C>T (p.Gln795Ter)
c.2302C>T (p.Gln768Ter)
c.2221C>T (p.Gln741Ter)
c.2218C>T (p.Gln740Ter)
c.2143C>T (p.Gln715Ter)
c.2140C>T (p.Gln714Ter)
17g.12992874G>CCA398222113ELAC2c.2425C>G (p.Gln809Glu)
c.2368C>G (p.Gln790Glu)
c.2305C>G (p.Gln769Glu)
n.2312C>G
n.2254C>G
n.3255C>G
n.1971C>G
c.1824C>G
c.2422C>G (p.Gln808Glu)
c.2584C>G (p.Gln862Glu)
c.2506C>G (p.Gln836Glu)
c.2503C>G (p.Gln835Glu)
c.2500C>G (p.Gln834Glu)
c.2464C>G (p.Gln822Glu)
c.2383C>G (p.Gln795Glu)
c.2302C>G (p.Gln768Glu)
c.2221C>G (p.Gln741Glu)
c.2218C>G (p.Gln740Glu)
c.2143C>G (p.Gln715Glu)
c.2140C>G (p.Gln714Glu)

Number of alleles fetched