Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.41531102C>ACA412990257CASKc.2374G>T (p.Gly792Cys)
c.2371G>T (p.Gly791Cys)
c.2425G>T (p.Gly809Cys)
c.2323G>T (p.Gly775Cys)
c.2428G>T (p.Gly810Cys)
c.1045G>T (p.Gly349Cys)
c.2356G>T (p.Gly786Cys)
c.2287G>T (p.Gly763Cys)
n.1204G>T
c.197G>T
c.2407G>T (p.Gly803Cys)
c.2338G>T (p.Gly780Cys)
c.2410G>T (p.Gly804Cys)
n.2656G>T
c.2392G>T (p.Gly798Cys)
c.1747G>T (p.Gly583Cys)
c.2341G>T (p.Gly781Cys)
c.2359G>T (p.Gly787Cys)
c.790G>T (p.Gly264Cys)
c.1201G>T (p.Gly401Cys)
c.2302G>T (p.Gly768Cys)
c.2389G>T (p.Gly797Cys)
c.2320G>T (p.Gly774Cys)
c.1852G>T (p.Gly618Cys)
Xg.41531102C=CA2425947697CASKc.2374G= (p.Gly792=)
c.2371G= (p.Gly791=)
c.2425G= (p.Gly809=)
c.2323G= (p.Gly775=)
c.2428G= (p.Gly810=)
c.1045G= (p.Gly349=)
c.2356G= (p.Gly786=)
c.2287G= (p.Gly763=)
n.1204G=
c.197G=
c.2407G= (p.Gly803=)
c.2338G= (p.Gly780=)
c.2410G= (p.Gly804=)
n.2656G=
c.2392G= (p.Gly798=)
c.1747G= (p.Gly583=)
c.2341G= (p.Gly781=)
c.2359G= (p.Gly787=)
c.790G= (p.Gly264=)
c.1201G= (p.Gly401=)
c.2302G= (p.Gly768=)
c.2389G= (p.Gly797=)
c.2320G= (p.Gly774=)
c.1852G= (p.Gly618=)
Xg.41531102C>GCA412990259CASKc.2374G>C (p.Gly792Arg)
c.2371G>C (p.Gly791Arg)
c.2425G>C (p.Gly809Arg)
c.2323G>C (p.Gly775Arg)
c.2428G>C (p.Gly810Arg)
c.1045G>C (p.Gly349Arg)
c.2356G>C (p.Gly786Arg)
c.2287G>C (p.Gly763Arg)
n.1204G>C
c.197G>C
c.2407G>C (p.Gly803Arg)
c.2338G>C (p.Gly780Arg)
c.2410G>C (p.Gly804Arg)
n.2656G>C
c.2392G>C (p.Gly798Arg)
c.1747G>C (p.Gly583Arg)
c.2341G>C (p.Gly781Arg)
c.2359G>C (p.Gly787Arg)
c.790G>C (p.Gly264Arg)
c.1201G>C (p.Gly401Arg)
c.2302G>C (p.Gly768Arg)
c.2389G>C (p.Gly797Arg)
c.2320G>C (p.Gly774Arg)
c.1852G>C (p.Gly618Arg)
Xg.41531102C>TCA16621395CASKc.2374G>A (p.Gly792Ser)
c.2371G>A (p.Gly791Ser)
c.2425G>A (p.Gly809Ser)
c.2323G>A (p.Gly775Ser)
c.2428G>A (p.Gly810Ser)
c.1045G>A (p.Gly349Ser)
c.2356G>A (p.Gly786Ser)
c.2287G>A (p.Gly763Ser)
n.1204G>A
c.197G>A
c.2407G>A (p.Gly803Ser)
c.2338G>A (p.Gly780Ser)
c.2410G>A (p.Gly804Ser)
n.2656G>A
c.2392G>A (p.Gly798Ser)
c.1747G>A (p.Gly583Ser)
c.2341G>A (p.Gly781Ser)
c.2359G>A (p.Gly787Ser)
c.790G>A (p.Gly264Ser)
c.1201G>A (p.Gly401Ser)
c.2302G>A (p.Gly768Ser)
c.2389G>A (p.Gly797Ser)
c.2320G>A (p.Gly774Ser)
c.1852G>A (p.Gly618Ser)
 ClinVar dbSNP gnomAD v4
Xg.41531103G>ACA10390024CASKc.2373C>T (p.Tyr791=)
c.2370C>T (p.Tyr790=)
c.2424C>T (p.Tyr808=)
c.2322C>T (p.Tyr774=)
c.2427C>T (p.Tyr809=)
c.1044C>T (p.Tyr348=)
c.2355C>T (p.Tyr785=)
c.2286C>T (p.Tyr762=)
n.1203C>T
c.196C>T
c.2406C>T (p.Tyr802=)
c.2337C>T (p.Tyr779=)
c.2409C>T (p.Tyr803=)
n.2655C>T
c.2391C>T (p.Tyr797=)
c.1746C>T (p.Tyr582=)
c.2340C>T (p.Tyr780=)
c.2358C>T (p.Tyr786=)
c.789C>T (p.Tyr263=)
c.1200C>T (p.Tyr400=)
c.2301C>T (p.Tyr767=)
c.2388C>T (p.Tyr796=)
c.2319C>T (p.Tyr773=)
c.1851C>T (p.Tyr617=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41531103G>CCA412990262CASKc.2373C>G (p.Tyr791Ter)
c.2370C>G (p.Tyr790Ter)
c.2424C>G (p.Tyr808Ter)
c.2322C>G (p.Tyr774Ter)
c.2427C>G (p.Tyr809Ter)
c.1044C>G (p.Tyr348Ter)
c.2355C>G (p.Tyr785Ter)
c.2286C>G (p.Tyr762Ter)
n.1203C>G
c.196C>G
c.2406C>G (p.Tyr802Ter)
c.2337C>G (p.Tyr779Ter)
c.2409C>G (p.Tyr803Ter)
n.2655C>G
c.2391C>G (p.Tyr797Ter)
c.1746C>G (p.Tyr582Ter)
c.2340C>G (p.Tyr780Ter)
c.2358C>G (p.Tyr786Ter)
c.789C>G (p.Tyr263Ter)
c.1200C>G (p.Tyr400Ter)
c.2301C>G (p.Tyr767Ter)
c.2388C>G (p.Tyr796Ter)
c.2319C>G (p.Tyr773Ter)
c.1851C>G (p.Tyr617Ter)
Xg.41531103G=CA2425947698CASKc.2373C= (p.Tyr791=)
c.2370C= (p.Tyr790=)
c.2424C= (p.Tyr808=)
c.2322C= (p.Tyr774=)
c.2427C= (p.Tyr809=)
c.1044C= (p.Tyr348=)
c.2355C= (p.Tyr785=)
c.2286C= (p.Tyr762=)
n.1203C=
c.196C=
c.2406C= (p.Tyr802=)
c.2337C= (p.Tyr779=)
c.2409C= (p.Tyr803=)
n.2655C=
c.2391C= (p.Tyr797=)
c.1746C= (p.Tyr582=)
c.2340C= (p.Tyr780=)
c.2358C= (p.Tyr786=)
c.789C= (p.Tyr263=)
c.1200C= (p.Tyr400=)
c.2301C= (p.Tyr767=)
c.2388C= (p.Tyr796=)
c.2319C= (p.Tyr773=)
c.1851C= (p.Tyr617=)
Xg.41531103G>TCA412990264CASKc.2373C>A (p.Tyr791Ter)
c.2370C>A (p.Tyr790Ter)
c.2424C>A (p.Tyr808Ter)
c.2322C>A (p.Tyr774Ter)
c.2427C>A (p.Tyr809Ter)
c.1044C>A (p.Tyr348Ter)
c.2355C>A (p.Tyr785Ter)
c.2286C>A (p.Tyr762Ter)
n.1203C>A
c.196C>A
c.2406C>A (p.Tyr802Ter)
c.2337C>A (p.Tyr779Ter)
c.2409C>A (p.Tyr803Ter)
n.2655C>A
c.2391C>A (p.Tyr797Ter)
c.1746C>A (p.Tyr582Ter)
c.2340C>A (p.Tyr780Ter)
c.2358C>A (p.Tyr786Ter)
c.789C>A (p.Tyr263Ter)
c.1200C>A (p.Tyr400Ter)
c.2301C>A (p.Tyr767Ter)
c.2388C>A (p.Tyr796Ter)
c.2319C>A (p.Tyr773Ter)
c.1851C>A (p.Tyr617Ter)
Xg.41531104T>ACA412990265CASKc.2372A>T (p.Tyr791Phe)
c.2369A>T (p.Tyr790Phe)
c.2423A>T (p.Tyr808Phe)
c.2321A>T (p.Tyr774Phe)
c.2426A>T (p.Tyr809Phe)
c.1043A>T (p.Tyr348Phe)
c.2354A>T (p.Tyr785Phe)
c.2285A>T (p.Tyr762Phe)
n.1202A>T
c.195A>T
c.2405A>T (p.Tyr802Phe)
c.2336A>T (p.Tyr779Phe)
c.2408A>T (p.Tyr803Phe)
n.2654A>T
c.2390A>T (p.Tyr797Phe)
c.1745A>T (p.Tyr582Phe)
c.2339A>T (p.Tyr780Phe)
c.2357A>T (p.Tyr786Phe)
c.788A>T (p.Tyr263Phe)
c.1199A>T (p.Tyr400Phe)
c.2300A>T (p.Tyr767Phe)
c.2387A>T (p.Tyr796Phe)
c.2318A>T (p.Tyr773Phe)
c.1850A>T (p.Tyr617Phe)
 gnomAD v4
Xg.41531104T>CCA412990267CASKc.2372A>G (p.Tyr791Cys)
c.2369A>G (p.Tyr790Cys)
c.2423A>G (p.Tyr808Cys)
c.2321A>G (p.Tyr774Cys)
c.2426A>G (p.Tyr809Cys)
c.1043A>G (p.Tyr348Cys)
c.2354A>G (p.Tyr785Cys)
c.2285A>G (p.Tyr762Cys)
n.1202A>G
c.195A>G
c.2405A>G (p.Tyr802Cys)
c.2336A>G (p.Tyr779Cys)
c.2408A>G (p.Tyr803Cys)
n.2654A>G
c.2390A>G (p.Tyr797Cys)
c.1745A>G (p.Tyr582Cys)
c.2339A>G (p.Tyr780Cys)
c.2357A>G (p.Tyr786Cys)
c.788A>G (p.Tyr263Cys)
c.1199A>G (p.Tyr400Cys)
c.2300A>G (p.Tyr767Cys)
c.2387A>G (p.Tyr796Cys)
c.2318A>G (p.Tyr773Cys)
c.1850A>G (p.Tyr617Cys)
Xg.41531104T>GCA412990269CASKc.2372A>C (p.Tyr791Ser)
c.2369A>C (p.Tyr790Ser)
c.2423A>C (p.Tyr808Ser)
c.2321A>C (p.Tyr774Ser)
c.2426A>C (p.Tyr809Ser)
c.1043A>C (p.Tyr348Ser)
c.2354A>C (p.Tyr785Ser)
c.2285A>C (p.Tyr762Ser)
n.1202A>C
c.195A>C
c.2405A>C (p.Tyr802Ser)
c.2336A>C (p.Tyr779Ser)
c.2408A>C (p.Tyr803Ser)
n.2654A>C
c.2390A>C (p.Tyr797Ser)
c.1745A>C (p.Tyr582Ser)
c.2339A>C (p.Tyr780Ser)
c.2357A>C (p.Tyr786Ser)
c.788A>C (p.Tyr263Ser)
c.1199A>C (p.Tyr400Ser)
c.2300A>C (p.Tyr767Ser)
c.2387A>C (p.Tyr796Ser)
c.2318A>C (p.Tyr773Ser)
c.1850A>C (p.Tyr617Ser)
Xg.41531105A>CCA412990271CASKc.2371T>G (p.Tyr791Asp)
c.2368T>G (p.Tyr790Asp)
c.2422T>G (p.Tyr808Asp)
c.2320T>G (p.Tyr774Asp)
c.2425T>G (p.Tyr809Asp)
c.1042T>G (p.Tyr348Asp)
c.2353T>G (p.Tyr785Asp)
c.2284T>G (p.Tyr762Asp)
n.1201T>G
c.194T>G
c.2404T>G (p.Tyr802Asp)
c.2335T>G (p.Tyr779Asp)
c.2407T>G (p.Tyr803Asp)
n.2653T>G
c.2389T>G (p.Tyr797Asp)
c.1744T>G (p.Tyr582Asp)
c.2338T>G (p.Tyr780Asp)
c.2356T>G (p.Tyr786Asp)
c.787T>G (p.Tyr263Asp)
c.1198T>G (p.Tyr400Asp)
c.2299T>G (p.Tyr767Asp)
c.2386T>G (p.Tyr796Asp)
c.2317T>G (p.Tyr773Asp)
c.1849T>G (p.Tyr617Asp)
Xg.41531105A>GCA412990272CASKc.2371T>C (p.Tyr791His)
c.2368T>C (p.Tyr790His)
c.2422T>C (p.Tyr808His)
c.2320T>C (p.Tyr774His)
c.2425T>C (p.Tyr809His)
c.1042T>C (p.Tyr348His)
c.2353T>C (p.Tyr785His)
c.2284T>C (p.Tyr762His)
n.1201T>C
c.194T>C
c.2404T>C (p.Tyr802His)
c.2335T>C (p.Tyr779His)
c.2407T>C (p.Tyr803His)
n.2653T>C
c.2389T>C (p.Tyr797His)
c.1744T>C (p.Tyr582His)
c.2338T>C (p.Tyr780His)
c.2356T>C (p.Tyr786His)
c.787T>C (p.Tyr263His)
c.1198T>C (p.Tyr400His)
c.2299T>C (p.Tyr767His)
c.2386T>C (p.Tyr796His)
c.2317T>C (p.Tyr773His)
c.1849T>C (p.Tyr617His)
Xg.41531105A>TCA412990274CASKc.2371T>A (p.Tyr791Asn)
c.2368T>A (p.Tyr790Asn)
c.2422T>A (p.Tyr808Asn)
c.2320T>A (p.Tyr774Asn)
c.2425T>A (p.Tyr809Asn)
c.1042T>A (p.Tyr348Asn)
c.2353T>A (p.Tyr785Asn)
c.2284T>A (p.Tyr762Asn)
n.1201T>A
c.194T>A
c.2404T>A (p.Tyr802Asn)
c.2335T>A (p.Tyr779Asn)
c.2407T>A (p.Tyr803Asn)
n.2653T>A
c.2389T>A (p.Tyr797Asn)
c.1744T>A (p.Tyr582Asn)
c.2338T>A (p.Tyr780Asn)
c.2356T>A (p.Tyr786Asn)
c.787T>A (p.Tyr263Asn)
c.1198T>A (p.Tyr400Asn)
c.2299T>A (p.Tyr767Asn)
c.2386T>A (p.Tyr796Asn)
c.2317T>A (p.Tyr773Asn)
c.1849T>A (p.Tyr617Asn)
Xg.41531106C>ACA412990277CASKc.2370G>T (p.Glu790Asp)
c.2367G>T (p.Glu789Asp)
c.2421G>T (p.Glu807Asp)
c.2319G>T (p.Glu773Asp)
c.2424G>T (p.Glu808Asp)
c.1041G>T (p.Glu347Asp)
c.2352G>T (p.Glu784Asp)
c.2283G>T (p.Glu761Asp)
n.1200G>T
c.193G>T
c.2403G>T (p.Glu801Asp)
c.2334G>T (p.Glu778Asp)
c.2406G>T (p.Glu802Asp)
n.2652G>T
c.2388G>T (p.Glu796Asp)
c.1743G>T (p.Glu581Asp)
c.2337G>T (p.Glu779Asp)
c.2355G>T (p.Glu785Asp)
c.786G>T (p.Glu262Asp)
c.1197G>T (p.Glu399Asp)
c.2298G>T (p.Glu766Asp)
c.2385G>T (p.Glu795Asp)
c.2316G>T (p.Glu772Asp)
c.1848G>T (p.Glu616Asp)
Xg.41531106C>GCA412990275CASKc.2370G>C (p.Glu790Asp)
c.2367G>C (p.Glu789Asp)
c.2421G>C (p.Glu807Asp)
c.2319G>C (p.Glu773Asp)
c.2424G>C (p.Glu808Asp)
c.1041G>C (p.Glu347Asp)
c.2352G>C (p.Glu784Asp)
c.2283G>C (p.Glu761Asp)
n.1200G>C
c.193G>C
c.2403G>C (p.Glu801Asp)
c.2334G>C (p.Glu778Asp)
c.2406G>C (p.Glu802Asp)
n.2652G>C
c.2388G>C (p.Glu796Asp)
c.1743G>C (p.Glu581Asp)
c.2337G>C (p.Glu779Asp)
c.2355G>C (p.Glu785Asp)
c.786G>C (p.Glu262Asp)
c.1197G>C (p.Glu399Asp)
c.2298G>C (p.Glu766Asp)
c.2385G>C (p.Glu795Asp)
c.2316G>C (p.Glu772Asp)
c.1848G>C (p.Glu616Asp)
Xg.41531106C>TCA516099234CASKc.2370G>A (p.Glu790=)
c.2367G>A (p.Glu789=)
c.2421G>A (p.Glu807=)
c.2319G>A (p.Glu773=)
c.2424G>A (p.Glu808=)
c.1041G>A (p.Glu347=)
c.2352G>A (p.Glu784=)
c.2283G>A (p.Glu761=)
n.1200G>A
c.193G>A
c.2403G>A (p.Glu801=)
c.2334G>A (p.Glu778=)
c.2406G>A (p.Glu802=)
n.2652G>A
c.2388G>A (p.Glu796=)
c.1743G>A (p.Glu581=)
c.2337G>A (p.Glu779=)
c.2355G>A (p.Glu785=)
c.786G>A (p.Glu262=)
c.1197G>A (p.Glu399=)
c.2298G>A (p.Glu766=)
c.2385G>A (p.Glu795=)
c.2316G>A (p.Glu772=)
c.1848G>A (p.Glu616=)
Xg.41531107T>ACA412990278CASKc.2369A>T (p.Glu790Val)
c.2366A>T (p.Glu789Val)
c.2420A>T (p.Glu807Val)
c.2318A>T (p.Glu773Val)
c.2423A>T (p.Glu808Val)
c.1040A>T (p.Glu347Val)
c.2351A>T (p.Glu784Val)
c.2282A>T (p.Glu761Val)
n.1199A>T
c.192A>T
c.2402A>T (p.Glu801Val)
c.2333A>T (p.Glu778Val)
c.2405A>T (p.Glu802Val)
n.2651A>T
c.2387A>T (p.Glu796Val)
c.1742A>T (p.Glu581Val)
c.2336A>T (p.Glu779Val)
c.2354A>T (p.Glu785Val)
c.785A>T (p.Glu262Val)
c.1196A>T (p.Glu399Val)
c.2297A>T (p.Glu766Val)
c.2384A>T (p.Glu795Val)
c.2315A>T (p.Glu772Val)
c.1847A>T (p.Glu616Val)
Xg.41531107T>CCA412990279CASKc.2369A>G (p.Glu790Gly)
c.2366A>G (p.Glu789Gly)
c.2420A>G (p.Glu807Gly)
c.2318A>G (p.Glu773Gly)
c.2423A>G (p.Glu808Gly)
c.1040A>G (p.Glu347Gly)
c.2351A>G (p.Glu784Gly)
c.2282A>G (p.Glu761Gly)
n.1199A>G
c.192A>G
c.2402A>G (p.Glu801Gly)
c.2333A>G (p.Glu778Gly)
c.2405A>G (p.Glu802Gly)
n.2651A>G
c.2387A>G (p.Glu796Gly)
c.1742A>G (p.Glu581Gly)
c.2336A>G (p.Glu779Gly)
c.2354A>G (p.Glu785Gly)
c.785A>G (p.Glu262Gly)
c.1196A>G (p.Glu399Gly)
c.2297A>G (p.Glu766Gly)
c.2384A>G (p.Glu795Gly)
c.2315A>G (p.Glu772Gly)
c.1847A>G (p.Glu616Gly)
Xg.41531107T>GCA412990281CASKc.2369A>C (p.Glu790Ala)
c.2366A>C (p.Glu789Ala)
c.2420A>C (p.Glu807Ala)
c.2318A>C (p.Glu773Ala)
c.2423A>C (p.Glu808Ala)
c.1040A>C (p.Glu347Ala)
c.2351A>C (p.Glu784Ala)
c.2282A>C (p.Glu761Ala)
n.1199A>C
c.192A>C
c.2402A>C (p.Glu801Ala)
c.2333A>C (p.Glu778Ala)
c.2405A>C (p.Glu802Ala)
n.2651A>C
c.2387A>C (p.Glu796Ala)
c.1742A>C (p.Glu581Ala)
c.2336A>C (p.Glu779Ala)
c.2354A>C (p.Glu785Ala)
c.785A>C (p.Glu262Ala)
c.1196A>C (p.Glu399Ala)
c.2297A>C (p.Glu766Ala)
c.2384A>C (p.Glu795Ala)
c.2315A>C (p.Glu772Ala)
c.1847A>C (p.Glu616Ala)
Xg.41531108C>ACA412990283CASKc.2368G>T (p.Glu790Ter)
c.2365G>T (p.Glu789Ter)
c.2419G>T (p.Glu807Ter)
c.2317G>T (p.Glu773Ter)
c.2422G>T (p.Glu808Ter)
c.1039G>T (p.Glu347Ter)
c.2350G>T (p.Glu784Ter)
c.2281G>T (p.Glu761Ter)
n.1198G>T
c.191G>T
c.2401G>T (p.Glu801Ter)
c.2332G>T (p.Glu778Ter)
c.2404G>T (p.Glu802Ter)
n.2650G>T
c.2386G>T (p.Glu796Ter)
c.1741G>T (p.Glu581Ter)
c.2335G>T (p.Glu779Ter)
c.2353G>T (p.Glu785Ter)
c.784G>T (p.Glu262Ter)
c.1195G>T (p.Glu399Ter)
c.2296G>T (p.Glu766Ter)
c.2383G>T (p.Glu795Ter)
c.2314G>T (p.Glu772Ter)
c.1846G>T (p.Glu616Ter)
Xg.41531108C>GCA412990285CASKc.2368G>C (p.Glu790Gln)
c.2365G>C (p.Glu789Gln)
c.2419G>C (p.Glu807Gln)
c.2317G>C (p.Glu773Gln)
c.2422G>C (p.Glu808Gln)
c.1039G>C (p.Glu347Gln)
c.2350G>C (p.Glu784Gln)
c.2281G>C (p.Glu761Gln)
n.1198G>C
c.191G>C
c.2401G>C (p.Glu801Gln)
c.2332G>C (p.Glu778Gln)
c.2404G>C (p.Glu802Gln)
n.2650G>C
c.2386G>C (p.Glu796Gln)
c.1741G>C (p.Glu581Gln)
c.2335G>C (p.Glu779Gln)
c.2353G>C (p.Glu785Gln)
c.784G>C (p.Glu262Gln)
c.1195G>C (p.Glu399Gln)
c.2296G>C (p.Glu766Gln)
c.2383G>C (p.Glu795Gln)
c.2314G>C (p.Glu772Gln)
c.1846G>C (p.Glu616Gln)
Xg.41531108C>TCA412990286CASKc.2368G>A (p.Glu790Lys)
c.2365G>A (p.Glu789Lys)
c.2419G>A (p.Glu807Lys)
c.2317G>A (p.Glu773Lys)
c.2422G>A (p.Glu808Lys)
c.1039G>A (p.Glu347Lys)
c.2350G>A (p.Glu784Lys)
c.2281G>A (p.Glu761Lys)
n.1198G>A
c.191G>A
c.2401G>A (p.Glu801Lys)
c.2332G>A (p.Glu778Lys)
c.2404G>A (p.Glu802Lys)
n.2650G>A
c.2386G>A (p.Glu796Lys)
c.1741G>A (p.Glu581Lys)
c.2335G>A (p.Glu779Lys)
c.2353G>A (p.Glu785Lys)
c.784G>A (p.Glu262Lys)
c.1195G>A (p.Glu399Lys)
c.2296G>A (p.Glu766Lys)
c.2383G>A (p.Glu795Lys)
c.2314G>A (p.Glu772Lys)
c.1846G>A (p.Glu616Lys)
Xg.41531109C>ACA412990288CASKc.2367G>T (p.Leu789Phe)
c.2364G>T (p.Leu788Phe)
c.2418G>T (p.Leu806Phe)
c.2316G>T (p.Leu772Phe)
c.2421G>T (p.Leu807Phe)
c.1038G>T (p.Leu346Phe)
c.2349G>T (p.Leu783Phe)
c.2280G>T (p.Leu760Phe)
n.1197G>T
c.190G>T
c.2400G>T (p.Leu800Phe)
c.2331G>T (p.Leu777Phe)
c.2403G>T (p.Leu801Phe)
n.2649G>T
c.2385G>T (p.Leu795Phe)
c.1740G>T (p.Leu580Phe)
c.2334G>T (p.Leu778Phe)
c.2352G>T (p.Leu784Phe)
c.783G>T (p.Leu261Phe)
c.1194G>T (p.Leu398Phe)
c.2295G>T (p.Leu765Phe)
c.2382G>T (p.Leu794Phe)
c.2313G>T (p.Leu771Phe)
c.1845G>T (p.Leu615Phe)
Xg.41531109C>GCA412990290CASKc.2367G>C (p.Leu789Phe)
c.2364G>C (p.Leu788Phe)
c.2418G>C (p.Leu806Phe)
c.2316G>C (p.Leu772Phe)
c.2421G>C (p.Leu807Phe)
c.1038G>C (p.Leu346Phe)
c.2349G>C (p.Leu783Phe)
c.2280G>C (p.Leu760Phe)
n.1197G>C
c.190G>C
c.2400G>C (p.Leu800Phe)
c.2331G>C (p.Leu777Phe)
c.2403G>C (p.Leu801Phe)
n.2649G>C
c.2385G>C (p.Leu795Phe)
c.1740G>C (p.Leu580Phe)
c.2334G>C (p.Leu778Phe)
c.2352G>C (p.Leu784Phe)
c.783G>C (p.Leu261Phe)
c.1194G>C (p.Leu398Phe)
c.2295G>C (p.Leu765Phe)
c.2382G>C (p.Leu794Phe)
c.2313G>C (p.Leu771Phe)
c.1845G>C (p.Leu615Phe)
Xg.41531109C>TCA516099243CASKc.2367G>A (p.Leu789=)
c.2364G>A (p.Leu788=)
c.2418G>A (p.Leu806=)
c.2316G>A (p.Leu772=)
c.2421G>A (p.Leu807=)
c.1038G>A (p.Leu346=)
c.2349G>A (p.Leu783=)
c.2280G>A (p.Leu760=)
n.1197G>A
c.190G>A
c.2400G>A (p.Leu800=)
c.2331G>A (p.Leu777=)
c.2403G>A (p.Leu801=)
n.2649G>A
c.2385G>A (p.Leu795=)
c.1740G>A (p.Leu580=)
c.2334G>A (p.Leu778=)
c.2352G>A (p.Leu784=)
c.783G>A (p.Leu261=)
c.1194G>A (p.Leu398=)
c.2295G>A (p.Leu765=)
c.2382G>A (p.Leu794=)
c.2313G>A (p.Leu771=)
c.1845G>A (p.Leu615=)
Xg.41531110A>CCA412990292CASKc.2366T>G (p.Leu789Trp)
c.2363T>G (p.Leu788Trp)
c.2417T>G (p.Leu806Trp)
c.2315T>G (p.Leu772Trp)
c.2420T>G (p.Leu807Trp)
c.1037T>G (p.Leu346Trp)
c.2348T>G (p.Leu783Trp)
c.2279T>G (p.Leu760Trp)
n.1196T>G
c.189T>G
c.2399T>G (p.Leu800Trp)
c.2330T>G (p.Leu777Trp)
c.2402T>G (p.Leu801Trp)
n.2648T>G
c.2384T>G (p.Leu795Trp)
c.1739T>G (p.Leu580Trp)
c.2333T>G (p.Leu778Trp)
c.2351T>G (p.Leu784Trp)
c.782T>G (p.Leu261Trp)
c.1193T>G (p.Leu398Trp)
c.2294T>G (p.Leu765Trp)
c.2381T>G (p.Leu794Trp)
c.2312T>G (p.Leu771Trp)
c.1844T>G (p.Leu615Trp)
Xg.41531110A>GCA412990295CASKc.2366T>C (p.Leu789Ser)
c.2363T>C (p.Leu788Ser)
c.2417T>C (p.Leu806Ser)
c.2315T>C (p.Leu772Ser)
c.2420T>C (p.Leu807Ser)
c.1037T>C (p.Leu346Ser)
c.2348T>C (p.Leu783Ser)
c.2279T>C (p.Leu760Ser)
n.1196T>C
c.189T>C
c.2399T>C (p.Leu800Ser)
c.2330T>C (p.Leu777Ser)
c.2402T>C (p.Leu801Ser)
n.2648T>C
c.2384T>C (p.Leu795Ser)
c.1739T>C (p.Leu580Ser)
c.2333T>C (p.Leu778Ser)
c.2351T>C (p.Leu784Ser)
c.782T>C (p.Leu261Ser)
c.1193T>C (p.Leu398Ser)
c.2294T>C (p.Leu765Ser)
c.2381T>C (p.Leu794Ser)
c.2312T>C (p.Leu771Ser)
c.1844T>C (p.Leu615Ser)
 gnomAD v4
Xg.41531110A>TCA412990293CASKc.2366T>A (p.Leu789Ter)
c.2363T>A (p.Leu788Ter)
c.2417T>A (p.Leu806Ter)
c.2315T>A (p.Leu772Ter)
c.2420T>A (p.Leu807Ter)
c.1037T>A (p.Leu346Ter)
c.2348T>A (p.Leu783Ter)
c.2279T>A (p.Leu760Ter)
n.1196T>A
c.189T>A
c.2399T>A (p.Leu800Ter)
c.2330T>A (p.Leu777Ter)
c.2402T>A (p.Leu801Ter)
n.2648T>A
c.2384T>A (p.Leu795Ter)
c.1739T>A (p.Leu580Ter)
c.2333T>A (p.Leu778Ter)
c.2351T>A (p.Leu784Ter)
c.782T>A (p.Leu261Ter)
c.1193T>A (p.Leu398Ter)
c.2294T>A (p.Leu765Ter)
c.2381T>A (p.Leu794Ter)
c.2312T>A (p.Leu771Ter)
c.1844T>A (p.Leu615Ter)
Xg.41531111A>CCA412990297CASKc.2365T>G (p.Leu789Val)
c.2362T>G (p.Leu788Val)
c.2416T>G (p.Leu806Val)
c.2314T>G (p.Leu772Val)
c.2419T>G (p.Leu807Val)
c.1036T>G (p.Leu346Val)
c.2347T>G (p.Leu783Val)
c.2278T>G (p.Leu760Val)
n.1195T>G
c.188T>G
c.2398T>G (p.Leu800Val)
c.2329T>G (p.Leu777Val)
c.2401T>G (p.Leu801Val)
n.2647T>G
c.2383T>G (p.Leu795Val)
c.1738T>G (p.Leu580Val)
c.2332T>G (p.Leu778Val)
c.2350T>G (p.Leu784Val)
c.781T>G (p.Leu261Val)
c.1192T>G (p.Leu398Val)
c.2293T>G (p.Leu765Val)
c.2380T>G (p.Leu794Val)
c.2311T>G (p.Leu771Val)
c.1843T>G (p.Leu615Val)
Xg.41531111A>GCA516099261CASKc.2365T>C (p.Leu789=)
c.2362T>C (p.Leu788=)
c.2416T>C (p.Leu806=)
c.2314T>C (p.Leu772=)
c.2419T>C (p.Leu807=)
c.1036T>C (p.Leu346=)
c.2347T>C (p.Leu783=)
c.2278T>C (p.Leu760=)
n.1195T>C
c.188T>C
c.2398T>C (p.Leu800=)
c.2329T>C (p.Leu777=)
c.2401T>C (p.Leu801=)
n.2647T>C
c.2383T>C (p.Leu795=)
c.1738T>C (p.Leu580=)
c.2332T>C (p.Leu778=)
c.2350T>C (p.Leu784=)
c.781T>C (p.Leu261=)
c.1192T>C (p.Leu398=)
c.2293T>C (p.Leu765=)
c.2380T>C (p.Leu794=)
c.2311T>C (p.Leu771=)
c.1843T>C (p.Leu615=)
Xg.41531111A>TCA412990299CASKc.2365T>A (p.Leu789Met)
c.2362T>A (p.Leu788Met)
c.2416T>A (p.Leu806Met)
c.2314T>A (p.Leu772Met)
c.2419T>A (p.Leu807Met)
c.1036T>A (p.Leu346Met)
c.2347T>A (p.Leu783Met)
c.2278T>A (p.Leu760Met)
n.1195T>A
c.188T>A
c.2398T>A (p.Leu800Met)
c.2329T>A (p.Leu777Met)
c.2401T>A (p.Leu801Met)
n.2647T>A
c.2383T>A (p.Leu795Met)
c.1738T>A (p.Leu580Met)
c.2332T>A (p.Leu778Met)
c.2350T>A (p.Leu784Met)
c.781T>A (p.Leu261Met)
c.1192T>A (p.Leu398Met)
c.2293T>A (p.Leu765Met)
c.2380T>A (p.Leu794Met)
c.2311T>A (p.Leu771Met)
c.1843T>A (p.Leu615Met)
Xg.41531112G>ACA516099265CASKc.2364C>T (p.Tyr788=)
c.2361C>T (p.Tyr787=)
c.2415C>T (p.Tyr805=)
c.2313C>T (p.Tyr771=)
c.2418C>T (p.Tyr806=)
c.1035C>T (p.Tyr345=)
c.2346C>T (p.Tyr782=)
c.2277C>T (p.Tyr759=)
n.1194C>T
c.187C>T
c.2397C>T (p.Tyr799=)
c.2328C>T (p.Tyr776=)
c.2400C>T (p.Tyr800=)
n.2646C>T
c.2382C>T (p.Tyr794=)
c.1737C>T (p.Tyr579=)
c.2331C>T (p.Tyr777=)
c.2349C>T (p.Tyr783=)
c.780C>T (p.Tyr260=)
c.1191C>T (p.Tyr397=)
c.2292C>T (p.Tyr764=)
c.2379C>T (p.Tyr793=)
c.2310C>T (p.Tyr770=)
c.1842C>T (p.Tyr614=)
Xg.41531112G>CCA412990301CASKc.2364C>G (p.Tyr788Ter)
c.2361C>G (p.Tyr787Ter)
c.2415C>G (p.Tyr805Ter)
c.2313C>G (p.Tyr771Ter)
c.2418C>G (p.Tyr806Ter)
c.1035C>G (p.Tyr345Ter)
c.2346C>G (p.Tyr782Ter)
c.2277C>G (p.Tyr759Ter)
n.1194C>G
c.187C>G
c.2397C>G (p.Tyr799Ter)
c.2328C>G (p.Tyr776Ter)
c.2400C>G (p.Tyr800Ter)
n.2646C>G
c.2382C>G (p.Tyr794Ter)
c.1737C>G (p.Tyr579Ter)
c.2331C>G (p.Tyr777Ter)
c.2349C>G (p.Tyr783Ter)
c.780C>G (p.Tyr260Ter)
c.1191C>G (p.Tyr397Ter)
c.2292C>G (p.Tyr764Ter)
c.2379C>G (p.Tyr793Ter)
c.2310C>G (p.Tyr770Ter)
c.1842C>G (p.Tyr614Ter)
Xg.41531112G>TCA412990302CASKc.2364C>A (p.Tyr788Ter)
c.2361C>A (p.Tyr787Ter)
c.2415C>A (p.Tyr805Ter)
c.2313C>A (p.Tyr771Ter)
c.2418C>A (p.Tyr806Ter)
c.1035C>A (p.Tyr345Ter)
c.2346C>A (p.Tyr782Ter)
c.2277C>A (p.Tyr759Ter)
n.1194C>A
c.187C>A
c.2397C>A (p.Tyr799Ter)
c.2328C>A (p.Tyr776Ter)
c.2400C>A (p.Tyr800Ter)
n.2646C>A
c.2382C>A (p.Tyr794Ter)
c.1737C>A (p.Tyr579Ter)
c.2331C>A (p.Tyr777Ter)
c.2349C>A (p.Tyr783Ter)
c.780C>A (p.Tyr260Ter)
c.1191C>A (p.Tyr397Ter)
c.2292C>A (p.Tyr764Ter)
c.2379C>A (p.Tyr793Ter)
c.2310C>A (p.Tyr770Ter)
c.1842C>A (p.Tyr614Ter)
 gnomAD v4
Xg.41531113T>ACA412990305CASKc.2363A>T (p.Tyr788Phe)
c.2360A>T (p.Tyr787Phe)
c.2414A>T (p.Tyr805Phe)
c.2312A>T (p.Tyr771Phe)
c.2417A>T (p.Tyr806Phe)
c.1034A>T (p.Tyr345Phe)
c.2345A>T (p.Tyr782Phe)
c.2276A>T (p.Tyr759Phe)
n.1193A>T
c.186A>T
c.2396A>T (p.Tyr799Phe)
c.2327A>T (p.Tyr776Phe)
c.2399A>T (p.Tyr800Phe)
n.2645A>T
c.2381A>T (p.Tyr794Phe)
c.1736A>T (p.Tyr579Phe)
c.2330A>T (p.Tyr777Phe)
c.2348A>T (p.Tyr783Phe)
c.779A>T (p.Tyr260Phe)
c.1190A>T (p.Tyr397Phe)
c.2291A>T (p.Tyr764Phe)
c.2378A>T (p.Tyr793Phe)
c.2309A>T (p.Tyr770Phe)
c.1841A>T (p.Tyr614Phe)
Xg.41531113T>CCA412990308CASKc.2363A>G (p.Tyr788Cys)
c.2360A>G (p.Tyr787Cys)
c.2414A>G (p.Tyr805Cys)
c.2312A>G (p.Tyr771Cys)
c.2417A>G (p.Tyr806Cys)
c.1034A>G (p.Tyr345Cys)
c.2345A>G (p.Tyr782Cys)
c.2276A>G (p.Tyr759Cys)
n.1193A>G
c.186A>G
c.2396A>G (p.Tyr799Cys)
c.2327A>G (p.Tyr776Cys)
c.2399A>G (p.Tyr800Cys)
n.2645A>G
c.2381A>G (p.Tyr794Cys)
c.1736A>G (p.Tyr579Cys)
c.2330A>G (p.Tyr777Cys)
c.2348A>G (p.Tyr783Cys)
c.779A>G (p.Tyr260Cys)
c.1190A>G (p.Tyr397Cys)
c.2291A>G (p.Tyr764Cys)
c.2378A>G (p.Tyr793Cys)
c.2309A>G (p.Tyr770Cys)
c.1841A>G (p.Tyr614Cys)
Xg.41531113T>GCA412990306CASKc.2363A>C (p.Tyr788Ser)
c.2360A>C (p.Tyr787Ser)
c.2414A>C (p.Tyr805Ser)
c.2312A>C (p.Tyr771Ser)
c.2417A>C (p.Tyr806Ser)
c.1034A>C (p.Tyr345Ser)
c.2345A>C (p.Tyr782Ser)
c.2276A>C (p.Tyr759Ser)
n.1193A>C
c.186A>C
c.2396A>C (p.Tyr799Ser)
c.2327A>C (p.Tyr776Ser)
c.2399A>C (p.Tyr800Ser)
n.2645A>C
c.2381A>C (p.Tyr794Ser)
c.1736A>C (p.Tyr579Ser)
c.2330A>C (p.Tyr777Ser)
c.2348A>C (p.Tyr783Ser)
c.779A>C (p.Tyr260Ser)
c.1190A>C (p.Tyr397Ser)
c.2291A>C (p.Tyr764Ser)
c.2378A>C (p.Tyr793Ser)
c.2309A>C (p.Tyr770Ser)
c.1841A>C (p.Tyr614Ser)
Xg.41531114A>CCA412990310CASKc.2362T>G (p.Tyr788Asp)
c.2359T>G (p.Tyr787Asp)
c.2413T>G (p.Tyr805Asp)
c.2311T>G (p.Tyr771Asp)
c.2416T>G (p.Tyr806Asp)
c.1033T>G (p.Tyr345Asp)
c.2344T>G (p.Tyr782Asp)
c.2275T>G (p.Tyr759Asp)
n.1192T>G
c.185T>G
c.2395T>G (p.Tyr799Asp)
c.2326T>G (p.Tyr776Asp)
c.2398T>G (p.Tyr800Asp)
n.2644T>G
c.2380T>G (p.Tyr794Asp)
c.1735T>G (p.Tyr579Asp)
c.2329T>G (p.Tyr777Asp)
c.2347T>G (p.Tyr783Asp)
c.778T>G (p.Tyr260Asp)
c.1189T>G (p.Tyr397Asp)
c.2290T>G (p.Tyr764Asp)
c.2377T>G (p.Tyr793Asp)
c.2308T>G (p.Tyr770Asp)
c.1840T>G (p.Tyr614Asp)
Xg.41531114A>GCA412990311CASKc.2362T>C (p.Tyr788His)
c.2359T>C (p.Tyr787His)
c.2413T>C (p.Tyr805His)
c.2311T>C (p.Tyr771His)
c.2416T>C (p.Tyr806His)
c.1033T>C (p.Tyr345His)
c.2344T>C (p.Tyr782His)
c.2275T>C (p.Tyr759His)
n.1192T>C
c.185T>C
c.2395T>C (p.Tyr799His)
c.2326T>C (p.Tyr776His)
c.2398T>C (p.Tyr800His)
n.2644T>C
c.2380T>C (p.Tyr794His)
c.1735T>C (p.Tyr579His)
c.2329T>C (p.Tyr777His)
c.2347T>C (p.Tyr783His)
c.778T>C (p.Tyr260His)
c.1189T>C (p.Tyr397His)
c.2290T>C (p.Tyr764His)
c.2377T>C (p.Tyr793His)
c.2308T>C (p.Tyr770His)
c.1840T>C (p.Tyr614His)
Xg.41531114A>TCA412990312CASKc.2362T>A (p.Tyr788Asn)
c.2359T>A (p.Tyr787Asn)
c.2413T>A (p.Tyr805Asn)
c.2311T>A (p.Tyr771Asn)
c.2416T>A (p.Tyr806Asn)
c.1033T>A (p.Tyr345Asn)
c.2344T>A (p.Tyr782Asn)
c.2275T>A (p.Tyr759Asn)
n.1192T>A
c.185T>A
c.2395T>A (p.Tyr799Asn)
c.2326T>A (p.Tyr776Asn)
c.2398T>A (p.Tyr800Asn)
n.2644T>A
c.2380T>A (p.Tyr794Asn)
c.1735T>A (p.Tyr579Asn)
c.2329T>A (p.Tyr777Asn)
c.2347T>A (p.Tyr783Asn)
c.778T>A (p.Tyr260Asn)
c.1189T>A (p.Tyr397Asn)
c.2290T>A (p.Tyr764Asn)
c.2377T>A (p.Tyr793Asn)
c.2308T>A (p.Tyr770Asn)
c.1840T>A (p.Tyr614Asn)
Xg.41531115C>ACA412990314CASKc.2361G>T (p.Glu787Asp)
c.2358G>T (p.Glu786Asp)
c.2412G>T (p.Glu804Asp)
c.2310G>T (p.Glu770Asp)
c.2415G>T (p.Glu805Asp)
c.1032G>T (p.Glu344Asp)
c.2343G>T (p.Glu781Asp)
c.2274G>T (p.Glu758Asp)
n.1191G>T
c.184G>T
c.2394G>T (p.Glu798Asp)
c.2325G>T (p.Glu775Asp)
c.2397G>T (p.Glu799Asp)
n.2643G>T
c.2379G>T (p.Glu793Asp)
c.1734G>T (p.Glu578Asp)
c.2328G>T (p.Glu776Asp)
c.2346G>T (p.Glu782Asp)
c.777G>T (p.Glu259Asp)
c.1188G>T (p.Glu396Asp)
c.2289G>T (p.Glu763Asp)
c.2376G>T (p.Glu792Asp)
c.2307G>T (p.Glu769Asp)
c.1839G>T (p.Glu613Asp)
Xg.41531115C>GCA412990316CASKc.2361G>C (p.Glu787Asp)
c.2358G>C (p.Glu786Asp)
c.2412G>C (p.Glu804Asp)
c.2310G>C (p.Glu770Asp)
c.2415G>C (p.Glu805Asp)
c.1032G>C (p.Glu344Asp)
c.2343G>C (p.Glu781Asp)
c.2274G>C (p.Glu758Asp)
n.1191G>C
c.184G>C
c.2394G>C (p.Glu798Asp)
c.2325G>C (p.Glu775Asp)
c.2397G>C (p.Glu799Asp)
n.2643G>C
c.2379G>C (p.Glu793Asp)
c.1734G>C (p.Glu578Asp)
c.2328G>C (p.Glu776Asp)
c.2346G>C (p.Glu782Asp)
c.777G>C (p.Glu259Asp)
c.1188G>C (p.Glu396Asp)
c.2289G>C (p.Glu763Asp)
c.2376G>C (p.Glu792Asp)
c.2307G>C (p.Glu769Asp)
c.1839G>C (p.Glu613Asp)
Xg.41531115C>TCA516099280CASKc.2361G>A (p.Glu787=)
c.2358G>A (p.Glu786=)
c.2412G>A (p.Glu804=)
c.2310G>A (p.Glu770=)
c.2415G>A (p.Glu805=)
c.1032G>A (p.Glu344=)
c.2343G>A (p.Glu781=)
c.2274G>A (p.Glu758=)
n.1191G>A
c.184G>A
c.2394G>A (p.Glu798=)
c.2325G>A (p.Glu775=)
c.2397G>A (p.Glu799=)
n.2643G>A
c.2379G>A (p.Glu793=)
c.1734G>A (p.Glu578=)
c.2328G>A (p.Glu776=)
c.2346G>A (p.Glu782=)
c.777G>A (p.Glu259=)
c.1188G>A (p.Glu396=)
c.2289G>A (p.Glu763=)
c.2376G>A (p.Glu792=)
c.2307G>A (p.Glu769=)
c.1839G>A (p.Glu613=)
 gnomAD v4
Xg.41531116T>ACA412990318CASKc.2360A>T (p.Glu787Val)
c.2357A>T (p.Glu786Val)
c.2411A>T (p.Glu804Val)
c.2309A>T (p.Glu770Val)
c.2414A>T (p.Glu805Val)
c.1031A>T (p.Glu344Val)
c.2342A>T (p.Glu781Val)
c.2273A>T (p.Glu758Val)
n.1190A>T
c.183A>T
c.2393A>T (p.Glu798Val)
c.2324A>T (p.Glu775Val)
c.2396A>T (p.Glu799Val)
n.2642A>T
c.2378A>T (p.Glu793Val)
c.1733A>T (p.Glu578Val)
c.2327A>T (p.Glu776Val)
c.2345A>T (p.Glu782Val)
c.776A>T (p.Glu259Val)
c.1187A>T (p.Glu396Val)
c.2288A>T (p.Glu763Val)
c.2375A>T (p.Glu792Val)
c.2306A>T (p.Glu769Val)
c.1838A>T (p.Glu613Val)
Xg.41531116T>CCA412990320CASKc.2360A>G (p.Glu787Gly)
c.2357A>G (p.Glu786Gly)
c.2411A>G (p.Glu804Gly)
c.2309A>G (p.Glu770Gly)
c.2414A>G (p.Glu805Gly)
c.1031A>G (p.Glu344Gly)
c.2342A>G (p.Glu781Gly)
c.2273A>G (p.Glu758Gly)
n.1190A>G
c.183A>G
c.2393A>G (p.Glu798Gly)
c.2324A>G (p.Glu775Gly)
c.2396A>G (p.Glu799Gly)
n.2642A>G
c.2378A>G (p.Glu793Gly)
c.1733A>G (p.Glu578Gly)
c.2327A>G (p.Glu776Gly)
c.2345A>G (p.Glu782Gly)
c.776A>G (p.Glu259Gly)
c.1187A>G (p.Glu396Gly)
c.2288A>G (p.Glu763Gly)
c.2375A>G (p.Glu792Gly)
c.2306A>G (p.Glu769Gly)
c.1838A>G (p.Glu613Gly)
Xg.41531116T>GCA412990321CASKc.2360A>C (p.Glu787Ala)
c.2357A>C (p.Glu786Ala)
c.2411A>C (p.Glu804Ala)
c.2309A>C (p.Glu770Ala)
c.2414A>C (p.Glu805Ala)
c.1031A>C (p.Glu344Ala)
c.2342A>C (p.Glu781Ala)
c.2273A>C (p.Glu758Ala)
n.1190A>C
c.183A>C
c.2393A>C (p.Glu798Ala)
c.2324A>C (p.Glu775Ala)
c.2396A>C (p.Glu799Ala)
n.2642A>C
c.2378A>C (p.Glu793Ala)
c.1733A>C (p.Glu578Ala)
c.2327A>C (p.Glu776Ala)
c.2345A>C (p.Glu782Ala)
c.776A>C (p.Glu259Ala)
c.1187A>C (p.Glu396Ala)
c.2288A>C (p.Glu763Ala)
c.2375A>C (p.Glu792Ala)
c.2306A>C (p.Glu769Ala)
c.1838A>C (p.Glu613Ala)
Xg.41531117C>ACA412990323CASKc.2359G>T (p.Glu787Ter)
c.2356G>T (p.Glu786Ter)
c.2410G>T (p.Glu804Ter)
c.2308G>T (p.Glu770Ter)
c.2413G>T (p.Glu805Ter)
c.1030G>T (p.Glu344Ter)
c.2341G>T (p.Glu781Ter)
c.2272G>T (p.Glu758Ter)
n.1189G>T
c.182G>T
c.2392G>T (p.Glu798Ter)
c.2323G>T (p.Glu775Ter)
c.2395G>T (p.Glu799Ter)
n.2641G>T
c.2377G>T (p.Glu793Ter)
c.1732G>T (p.Glu578Ter)
c.2326G>T (p.Glu776Ter)
c.2344G>T (p.Glu782Ter)
c.775G>T (p.Glu259Ter)
c.1186G>T (p.Glu396Ter)
c.2287G>T (p.Glu763Ter)
c.2374G>T (p.Glu792Ter)
c.2305G>T (p.Glu769Ter)
c.1837G>T (p.Glu613Ter)
Xg.41531117C=CA2425947699CASKc.2359G= (p.Glu787=)
c.2356G= (p.Glu786=)
c.2410G= (p.Glu804=)
c.2308G= (p.Glu770=)
c.2413G= (p.Glu805=)
c.1030G= (p.Glu344=)
c.2341G= (p.Glu781=)
c.2272G= (p.Glu758=)
n.1189G=
c.182G=
c.2392G= (p.Glu798=)
c.2323G= (p.Glu775=)
c.2395G= (p.Glu799=)
n.2641G=
c.2377G= (p.Glu793=)
c.1732G= (p.Glu578=)
c.2326G= (p.Glu776=)
c.2344G= (p.Glu782=)
c.775G= (p.Glu259=)
c.1186G= (p.Glu396=)
c.2287G= (p.Glu763=)
c.2374G= (p.Glu792=)
c.2305G= (p.Glu769=)
c.1837G= (p.Glu613=)
Xg.41531117C>GCA412990325CASKc.2359G>C (p.Glu787Gln)
c.2356G>C (p.Glu786Gln)
c.2410G>C (p.Glu804Gln)
c.2308G>C (p.Glu770Gln)
c.2413G>C (p.Glu805Gln)
c.1030G>C (p.Glu344Gln)
c.2341G>C (p.Glu781Gln)
c.2272G>C (p.Glu758Gln)
n.1189G>C
c.182G>C
c.2392G>C (p.Glu798Gln)
c.2323G>C (p.Glu775Gln)
c.2395G>C (p.Glu799Gln)
n.2641G>C
c.2377G>C (p.Glu793Gln)
c.1732G>C (p.Glu578Gln)
c.2326G>C (p.Glu776Gln)
c.2344G>C (p.Glu782Gln)
c.775G>C (p.Glu259Gln)
c.1186G>C (p.Glu396Gln)
c.2287G>C (p.Glu763Gln)
c.2374G>C (p.Glu792Gln)
c.2305G>C (p.Glu769Gln)
c.1837G>C (p.Glu613Gln)

Number of alleles fetched