Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38894845C>ACA433336160SCN11Ac.2523G>T (p.Arg841=)
c.2343G>T (p.Arg781=)
c.2567G>T (n.2567G>T)
c.2142G>T (p.Arg714=)
c.1860G>T (p.Arg620=)
c.1071G>T (p.Arg357=)
c.2898G>T (p.Arg966=)
c.2325G>T (p.Arg775=)
c.2250G>T (p.Arg750=)
c.927G>T (p.Arg309=)
3g.38894845C=CA1358718253SCN11Ac.2523G= (p.Arg841=)
c.2343G= (p.Arg781=)
c.2567G= (n.2567G=)
c.2142G= (p.Arg714=)
c.1860G= (p.Arg620=)
c.1071G= (p.Arg357=)
c.2898G= (p.Arg966=)
c.2325G= (p.Arg775=)
c.2250G= (p.Arg750=)
c.927G= (p.Arg309=)
3g.38894845C>GCA433336161SCN11Ac.2523G>C (p.Arg841=)
c.2343G>C (p.Arg781=)
c.2567G>C (n.2567G>C)
c.2142G>C (p.Arg714=)
c.1860G>C (p.Arg620=)
c.1071G>C (p.Arg357=)
c.2898G>C (p.Arg966=)
c.2325G>C (p.Arg775=)
c.2250G>C (p.Arg750=)
c.927G>C (p.Arg309=)
3g.38894845C>TCA433336162SCN11Ac.2523G>A (p.Arg841=)
c.2343G>A (p.Arg781=)
c.2567G>A (n.2567G>A)
c.2142G>A (p.Arg714=)
c.1860G>A (p.Arg620=)
c.1071G>A (p.Arg357=)
c.2898G>A (p.Arg966=)
c.2325G>A (p.Arg775=)
c.2250G>A (p.Arg750=)
c.927G>A (p.Arg309=)
dbSNP gnomAD v4
3g.38894846C>ACA352174965SCN11Ac.2522G>T (p.Arg841Leu)
c.2342G>T (p.Arg781Leu)
c.2566G>T (n.2566G>T)
c.2141G>T (p.Arg714Leu)
c.1859G>T (p.Arg620Leu)
c.1070G>T (p.Arg357Leu)
c.2897G>T (p.Arg966Leu)
c.2324G>T (p.Arg775Leu)
c.2249G>T (p.Arg750Leu)
c.926G>T (p.Arg309Leu)
3g.38894846C=CA1358718254SCN11Ac.2522G= (p.Arg841=)
c.2342G= (p.Arg781=)
c.2566G= (n.2566G=)
c.2141G= (p.Arg714=)
c.1859G= (p.Arg620=)
c.1070G= (p.Arg357=)
c.2897G= (p.Arg966=)
c.2324G= (p.Arg775=)
c.2249G= (p.Arg750=)
c.926G= (p.Arg309=)
3g.38894846C>GCA352174966SCN11Ac.2522G>C (p.Arg841Pro)
c.2342G>C (p.Arg781Pro)
c.2566G>C (n.2566G>C)
c.2141G>C (p.Arg714Pro)
c.1859G>C (p.Arg620Pro)
c.1070G>C (p.Arg357Pro)
c.2897G>C (p.Arg966Pro)
c.2324G>C (p.Arg775Pro)
c.2249G>C (p.Arg750Pro)
c.926G>C (p.Arg309Pro)
3g.38894846C>TCA2322022SCN11Ac.2522G>A (p.Arg841Gln)
c.2342G>A (p.Arg781Gln)
c.2566G>A (n.2566G>A)
c.2141G>A (p.Arg714Gln)
c.1859G>A (p.Arg620Gln)
c.1070G>A (p.Arg357Gln)
c.2897G>A (p.Arg966Gln)
c.2324G>A (p.Arg775Gln)
c.2249G>A (p.Arg750Gln)
c.926G>A (p.Arg309Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894847G>ACA2322023SCN11Ac.2521C>T (p.Arg841Trp)
c.2341C>T (p.Arg781Trp)
c.2565C>T (n.2565C>T)
c.2140C>T (p.Arg714Trp)
c.1858C>T (p.Arg620Trp)
c.1069C>T (p.Arg357Trp)
c.2896C>T (p.Arg966Trp)
c.2323C>T (p.Arg775Trp)
c.2248C>T (p.Arg750Trp)
c.925C>T (p.Arg309Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894847G>CCA352174967SCN11Ac.2521C>G (p.Arg841Gly)
c.2341C>G (p.Arg781Gly)
c.2565C>G (n.2565C>G)
c.2140C>G (p.Arg714Gly)
c.1858C>G (p.Arg620Gly)
c.1069C>G (p.Arg357Gly)
c.2896C>G (p.Arg966Gly)
c.2323C>G (p.Arg775Gly)
c.2248C>G (p.Arg750Gly)
c.925C>G (p.Arg309Gly)
3g.38894847G=CA1358718255SCN11Ac.2521C= (p.Arg841=)
c.2341C= (p.Arg781=)
c.2565C= (n.2565C=)
c.2140C= (p.Arg714=)
c.1858C= (p.Arg620=)
c.1069C= (p.Arg357=)
c.2896C= (p.Arg966=)
c.2323C= (p.Arg775=)
c.2248C= (p.Arg750=)
c.925C= (p.Arg309=)
3g.38894847G>TCA433336165SCN11Ac.2521C>A (p.Arg841=)
c.2341C>A (p.Arg781=)
c.2565C>A (n.2565C>A)
c.2140C>A (p.Arg714=)
c.1858C>A (p.Arg620=)
c.1069C>A (p.Arg357=)
c.2896C>A (p.Arg966=)
c.2323C>A (p.Arg775=)
c.2248C>A (p.Arg750=)
c.925C>A (p.Arg309=)
3g.38894848G>ACA433336167SCN11Ac.2520C>T (p.Arg840=)
c.2340C>T (p.Arg780=)
c.2564C>T (n.2564C>T)
c.2139C>T (p.Arg713=)
c.1857C>T (p.Arg619=)
c.1068C>T (p.Arg356=)
c.2895C>T (p.Arg965=)
c.2322C>T (p.Arg774=)
c.2247C>T (p.Arg749=)
c.924C>T (p.Arg308=)
gnomAD v4
3g.38894848G>CCA433336168SCN11Ac.2520C>G (p.Arg840=)
c.2340C>G (p.Arg780=)
c.2564C>G (n.2564C>G)
c.2139C>G (p.Arg713=)
c.1857C>G (p.Arg619=)
c.1068C>G (p.Arg356=)
c.2895C>G (p.Arg965=)
c.2322C>G (p.Arg774=)
c.2247C>G (p.Arg749=)
c.924C>G (p.Arg308=)
3g.38894848G>TCA433336166SCN11Ac.2520C>A (p.Arg840=)
c.2340C>A (p.Arg780=)
c.2564C>A (n.2564C>A)
c.2139C>A (p.Arg713=)
c.1857C>A (p.Arg619=)
c.1068C>A (p.Arg356=)
c.2895C>A (p.Arg965=)
c.2322C>A (p.Arg774=)
c.2247C>A (p.Arg749=)
c.924C>A (p.Arg308=)
3g.38894849C>ACA2322025SCN11Ac.2519G>T (p.Arg840Leu)
c.2339G>T (p.Arg780Leu)
c.2563G>T (n.2563G>T)
c.2138G>T (p.Arg713Leu)
c.1856G>T (p.Arg619Leu)
c.1067G>T (p.Arg356Leu)
c.2894G>T (p.Arg965Leu)
c.2321G>T (p.Arg774Leu)
c.2246G>T (p.Arg749Leu)
c.923G>T (p.Arg308Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38894849C=CA1358718256SCN11Ac.2519G= (p.Arg840=)
c.2339G= (p.Arg780=)
c.2563G= (n.2563G=)
c.2138G= (p.Arg713=)
c.1856G= (p.Arg619=)
c.1067G= (p.Arg356=)
c.2894G= (p.Arg965=)
c.2321G= (p.Arg774=)
c.2246G= (p.Arg749=)
c.923G= (p.Arg308=)
3g.38894849C>GCA352174968SCN11Ac.2519G>C (p.Arg840Pro)
c.2339G>C (p.Arg780Pro)
c.2563G>C (n.2563G>C)
c.2138G>C (p.Arg713Pro)
c.1856G>C (p.Arg619Pro)
c.1067G>C (p.Arg356Pro)
c.2894G>C (p.Arg965Pro)
c.2321G>C (p.Arg774Pro)
c.2246G>C (p.Arg749Pro)
c.923G>C (p.Arg308Pro)
3g.38894849C>TCA2322024SCN11Ac.2519G>A (p.Arg840His)
c.2339G>A (p.Arg780His)
c.2563G>A (n.2563G>A)
c.2138G>A (p.Arg713His)
c.1856G>A (p.Arg619His)
c.1067G>A (p.Arg356His)
c.2894G>A (p.Arg965His)
c.2321G>A (p.Arg774His)
c.2246G>A (p.Arg749His)
c.923G>A (p.Arg308His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38894850G>ACA2322026SCN11Ac.2518C>T (p.Arg840Cys)
c.2338C>T (p.Arg780Cys)
c.2562C>T (n.2562C>T)
c.2137C>T (p.Arg713Cys)
c.1855C>T (p.Arg619Cys)
c.1066C>T (p.Arg356Cys)
c.2893C>T (p.Arg965Cys)
c.2320C>T (p.Arg774Cys)
c.2245C>T (p.Arg749Cys)
c.922C>T (p.Arg308Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38894850G>CCA352174969SCN11Ac.2518C>G (p.Arg840Gly)
c.2338C>G (p.Arg780Gly)
c.2562C>G (n.2562C>G)
c.2137C>G (p.Arg713Gly)
c.1855C>G (p.Arg619Gly)
c.1066C>G (p.Arg356Gly)
c.2893C>G (p.Arg965Gly)
c.2320C>G (p.Arg774Gly)
c.2245C>G (p.Arg749Gly)
c.922C>G (p.Arg308Gly)
3g.38894850G=CA1358718257SCN11Ac.2518C= (p.Arg840=)
c.2338C= (p.Arg780=)
c.2562C= (n.2562C=)
c.2137C= (p.Arg713=)
c.1855C= (p.Arg619=)
c.1066C= (p.Arg356=)
c.2893C= (p.Arg965=)
c.2320C= (p.Arg774=)
c.2245C= (p.Arg749=)
c.922C= (p.Arg308=)
3g.38894850G>TCA352174970SCN11Ac.2518C>A (p.Arg840Ser)
c.2338C>A (p.Arg780Ser)
c.2562C>A (n.2562C>A)
c.2137C>A (p.Arg713Ser)
c.1855C>A (p.Arg619Ser)
c.1066C>A (p.Arg356Ser)
c.2893C>A (p.Arg965Ser)
c.2320C>A (p.Arg774Ser)
c.2245C>A (p.Arg749Ser)
c.922C>A (p.Arg308Ser)
3g.38894851G>ACA433336169SCN11Ac.2517C>T (p.Phe839=)
c.2337C>T (p.Phe779=)
c.2561C>T (n.2561C>T)
c.2136C>T (p.Phe712=)
c.1854C>T (p.Phe618=)
c.1065C>T (p.Phe355=)
c.2892C>T (p.Phe964=)
c.2319C>T (p.Phe773=)
c.2244C>T (p.Phe748=)
c.921C>T (p.Phe307=)
ClinVar dbSNP
3g.38894851G>CCA352174972SCN11Ac.2517C>G (p.Phe839Leu)
c.2337C>G (p.Phe779Leu)
c.2561C>G (n.2561C>G)
c.2136C>G (p.Phe712Leu)
c.1854C>G (p.Phe618Leu)
c.1065C>G (p.Phe355Leu)
c.2892C>G (p.Phe964Leu)
c.2319C>G (p.Phe773Leu)
c.2244C>G (p.Phe748Leu)
c.921C>G (p.Phe307Leu)
dbSNP
3g.38894851G=CA1358718258SCN11Ac.2517C= (p.Phe839=)
c.2337C= (p.Phe779=)
c.2561C= (n.2561C=)
c.2136C= (p.Phe712=)
c.1854C= (p.Phe618=)
c.1065C= (p.Phe355=)
c.2892C= (p.Phe964=)
c.2319C= (p.Phe773=)
c.2244C= (p.Phe748=)
c.921C= (p.Phe307=)
3g.38894851G>TCA352174971SCN11Ac.2517C>A (p.Phe839Leu)
c.2337C>A (p.Phe779Leu)
c.2561C>A (n.2561C>A)
c.2136C>A (p.Phe712Leu)
c.1854C>A (p.Phe618Leu)
c.1065C>A (p.Phe355Leu)
c.2892C>A (p.Phe964Leu)
c.2319C>A (p.Phe773Leu)
c.2244C>A (p.Phe748Leu)
c.921C>A (p.Phe307Leu)
3g.38894852A=CA1358718259SCN11Ac.2516T= (p.Phe839=)
c.2336T= (p.Phe779=)
c.2560T= (n.2560T=)
c.2135T= (p.Phe712=)
c.1853T= (p.Phe618=)
c.1064T= (p.Phe355=)
c.2891T= (p.Phe964=)
c.2318T= (p.Phe773=)
c.2243T= (p.Phe748=)
c.920T= (p.Phe307=)
3g.38894852A>CCA352174973SCN11Ac.2516T>G (p.Phe839Cys)
c.2336T>G (p.Phe779Cys)
c.2560T>G (n.2560T>G)
c.2135T>G (p.Phe712Cys)
c.1853T>G (p.Phe618Cys)
c.1064T>G (p.Phe355Cys)
c.2891T>G (p.Phe964Cys)
c.2318T>G (p.Phe773Cys)
c.2243T>G (p.Phe748Cys)
c.920T>G (p.Phe307Cys)
dbSNP gnomAD v3 gnomAD v4
3g.38894852A>GCA352174974SCN11Ac.2516T>C (p.Phe839Ser)
c.2336T>C (p.Phe779Ser)
c.2560T>C (n.2560T>C)
c.2135T>C (p.Phe712Ser)
c.1853T>C (p.Phe618Ser)
c.1064T>C (p.Phe355Ser)
c.2891T>C (p.Phe964Ser)
c.2318T>C (p.Phe773Ser)
c.2243T>C (p.Phe748Ser)
c.920T>C (p.Phe307Ser)
gnomAD v4
3g.38894852A>TCA352174975SCN11Ac.2516T>A (p.Phe839Tyr)
c.2336T>A (p.Phe779Tyr)
c.2560T>A (n.2560T>A)
c.2135T>A (p.Phe712Tyr)
c.1853T>A (p.Phe618Tyr)
c.1064T>A (p.Phe355Tyr)
c.2891T>A (p.Phe964Tyr)
c.2318T>A (p.Phe773Tyr)
c.2243T>A (p.Phe748Tyr)
c.920T>A (p.Phe307Tyr)
3g.38894853A>CCA352174976SCN11Ac.2515T>G (p.Phe839Val)
c.2335T>G (p.Phe779Val)
c.2559T>G (n.2559T>G)
c.2134T>G (p.Phe712Val)
c.1852T>G (p.Phe618Val)
c.1063T>G (p.Phe355Val)
c.2890T>G (p.Phe964Val)
c.2317T>G (p.Phe773Val)
c.2242T>G (p.Phe748Val)
c.919T>G (p.Phe307Val)
3g.38894853A>GCA352174977SCN11Ac.2515T>C (p.Phe839Leu)
c.2335T>C (p.Phe779Leu)
c.2559T>C (n.2559T>C)
c.2134T>C (p.Phe712Leu)
c.1852T>C (p.Phe618Leu)
c.1063T>C (p.Phe355Leu)
c.2890T>C (p.Phe964Leu)
c.2317T>C (p.Phe773Leu)
c.2242T>C (p.Phe748Leu)
c.919T>C (p.Phe307Leu)
3g.38894853A>TCA352174978SCN11Ac.2515T>A (p.Phe839Ile)
c.2335T>A (p.Phe779Ile)
c.2559T>A (n.2559T>A)
c.2134T>A (p.Phe712Ile)
c.1852T>A (p.Phe618Ile)
c.1063T>A (p.Phe355Ile)
c.2890T>A (p.Phe964Ile)
c.2317T>A (p.Phe773Ile)
c.2242T>A (p.Phe748Ile)
c.919T>A (p.Phe307Ile)
3g.38894854T>ACA433336170SCN11Ac.2514A>T (p.Arg838=)
c.2334A>T (p.Arg778=)
c.2558A>T (n.2558A>T)
c.2133A>T (p.Arg711=)
c.1851A>T (p.Arg617=)
c.1062A>T (p.Arg354=)
c.2889A>T (p.Arg963=)
c.2316A>T (p.Arg772=)
c.2241A>T (p.Arg747=)
c.918A>T (p.Arg306=)
gnomAD v4
3g.38894854T>CCA433336171SCN11Ac.2514A>G (p.Arg838=)
c.2334A>G (p.Arg778=)
c.2558A>G (n.2558A>G)
c.2133A>G (p.Arg711=)
c.1851A>G (p.Arg617=)
c.1062A>G (p.Arg354=)
c.2889A>G (p.Arg963=)
c.2316A>G (p.Arg772=)
c.2241A>G (p.Arg747=)
c.918A>G (p.Arg306=)
3g.38894854T>GCA433336173SCN11Ac.2514A>C (p.Arg838=)
c.2334A>C (p.Arg778=)
c.2558A>C (n.2558A>C)
c.2133A>C (p.Arg711=)
c.1851A>C (p.Arg617=)
c.1062A>C (p.Arg354=)
c.2889A>C (p.Arg963=)
c.2316A>C (p.Arg772=)
c.2241A>C (p.Arg747=)
c.918A>C (p.Arg306=)
3g.38894855C>ACA352174979SCN11Ac.2513G>T (p.Arg838Leu)
c.2333G>T (p.Arg778Leu)
c.2557G>T (n.2557G>T)
c.2132G>T (p.Arg711Leu)
c.1850G>T (p.Arg617Leu)
c.1061G>T (p.Arg354Leu)
c.2888G>T (p.Arg963Leu)
c.2315G>T (p.Arg772Leu)
c.2240G>T (p.Arg747Leu)
c.917G>T (p.Arg306Leu)
dbSNP gnomAD v2 gnomAD v4
3g.38894855C=CA1358718260SCN11Ac.2513G= (p.Arg838=)
c.2333G= (p.Arg778=)
c.2557G= (n.2557G=)
c.2132G= (p.Arg711=)
c.1850G= (p.Arg617=)
c.1061G= (p.Arg354=)
c.2888G= (p.Arg963=)
c.2315G= (p.Arg772=)
c.2240G= (p.Arg747=)
c.917G= (p.Arg306=)
3g.38894855C>GCA352174980SCN11Ac.2513G>C (p.Arg838Pro)
c.2333G>C (p.Arg778Pro)
c.2557G>C (n.2557G>C)
c.2132G>C (p.Arg711Pro)
c.1850G>C (p.Arg617Pro)
c.1061G>C (p.Arg354Pro)
c.2888G>C (p.Arg963Pro)
c.2315G>C (p.Arg772Pro)
c.2240G>C (p.Arg747Pro)
c.917G>C (p.Arg306Pro)
3g.38894855C>TCA2322027SCN11Ac.2513G>A (p.Arg838Gln)
c.2333G>A (p.Arg778Gln)
c.2557G>A (n.2557G>A)
c.2132G>A (p.Arg711Gln)
c.1850G>A (p.Arg617Gln)
c.1061G>A (p.Arg354Gln)
c.2888G>A (p.Arg963Gln)
c.2315G>A (p.Arg772Gln)
c.2240G>A (p.Arg747Gln)
c.917G>A (p.Arg306Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38894856G>ACA2322028SCN11Ac.2512C>T (p.Arg838Ter)
c.2332C>T (p.Arg778Ter)
c.2556C>T (n.2556C>T)
c.2131C>T (p.Arg711Ter)
c.1849C>T (p.Arg617Ter)
c.1060C>T (p.Arg354Ter)
c.2887C>T (p.Arg963Ter)
c.2314C>T (p.Arg772Ter)
c.2239C>T (p.Arg747Ter)
c.916C>T (p.Arg306Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38894856G>CCA352174981SCN11Ac.2512C>G (p.Arg838Gly)
c.2332C>G (p.Arg778Gly)
c.2556C>G (n.2556C>G)
c.2131C>G (p.Arg711Gly)
c.1849C>G (p.Arg617Gly)
c.1060C>G (p.Arg354Gly)
c.2887C>G (p.Arg963Gly)
c.2314C>G (p.Arg772Gly)
c.2239C>G (p.Arg747Gly)
c.916C>G (p.Arg306Gly)
dbSNP gnomAD v2 gnomAD v4
3g.38894856G=CA1358718261SCN11Ac.2512C= (p.Arg838=)
c.2332C= (p.Arg778=)
c.2556C= (n.2556C=)
c.2131C= (p.Arg711=)
c.1849C= (p.Arg617=)
c.1060C= (p.Arg354=)
c.2887C= (p.Arg963=)
c.2314C= (p.Arg772=)
c.2239C= (p.Arg747=)
c.916C= (p.Arg306=)
3g.38894856G>TCA433336175SCN11Ac.2512C>A (p.Arg838=)
c.2332C>A (p.Arg778=)
c.2556C>A (n.2556C>A)
c.2131C>A (p.Arg711=)
c.1849C>A (p.Arg617=)
c.1060C>A (p.Arg354=)
c.2887C>A (p.Arg963=)
c.2314C>A (p.Arg772=)
c.2239C>A (p.Arg747=)
c.916C>A (p.Arg306=)
gnomAD v4
3g.38894857A=CA1358718262SCN11Ac.2511T= (p.Asp837=)
c.2331T= (p.Asp777=)
c.2555T= (n.2555T=)
c.2130T= (p.Asp710=)
c.1848T= (p.Asp616=)
c.1059T= (p.Asp353=)
c.2886T= (p.Asp962=)
c.2313T= (p.Asp771=)
c.2238T= (p.Asp746=)
c.915T= (p.Asp305=)
3g.38894857A>CCA352174982SCN11Ac.2511T>G (p.Asp837Glu)
c.2331T>G (p.Asp777Glu)
c.2555T>G (n.2555T>G)
c.2130T>G (p.Asp710Glu)
c.1848T>G (p.Asp616Glu)
c.1059T>G (p.Asp353Glu)
c.2886T>G (p.Asp962Glu)
c.2313T>G (p.Asp771Glu)
c.2238T>G (p.Asp746Glu)
c.915T>G (p.Asp305Glu)
3g.38894857A>GCA433336176SCN11Ac.2511T>C (p.Asp837=)
c.2331T>C (p.Asp777=)
c.2555T>C (n.2555T>C)
c.2130T>C (p.Asp710=)
c.1848T>C (p.Asp616=)
c.1059T>C (p.Asp353=)
c.2886T>C (p.Asp962=)
c.2313T>C (p.Asp771=)
c.2238T>C (p.Asp746=)
c.915T>C (p.Asp305=)
dbSNP
3g.38894857A>TCA352174983SCN11Ac.2511T>A (p.Asp837Glu)
c.2331T>A (p.Asp777Glu)
c.2555T>A (n.2555T>A)
c.2130T>A (p.Asp710Glu)
c.1848T>A (p.Asp616Glu)
c.1059T>A (p.Asp353Glu)
c.2886T>A (p.Asp962Glu)
c.2313T>A (p.Asp771Glu)
c.2238T>A (p.Asp746Glu)
c.915T>A (p.Asp305Glu)
3g.38894858T>ACA352174984SCN11Ac.2510A>T (p.Asp837Val)
c.2330A>T (p.Asp777Val)
c.2554A>T (n.2554A>T)
c.2129A>T (p.Asp710Val)
c.1847A>T (p.Asp616Val)
c.1058A>T (p.Asp353Val)
c.2885A>T (p.Asp962Val)
c.2312A>T (p.Asp771Val)
c.2237A>T (p.Asp746Val)
c.914A>T (p.Asp305Val)

Number of alleles fetched