Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38543522C>GCA2576804835RYR1c.189-10C>G
c.171-10C>G
c.11779-10C>G (n.11779-10C>G)
c.11764-10C>G (n.11764-10C>G)
c.11761-10C>G (n.11761-10C>G)
c.388-10C>G
c.5148-10C>G
c.11746-10C>G (n.11746-10C>G)
c.11776-10C>G (n.11776-10C>G)
 ClinVar gnomAD v4
19g.38543522C>TCA2584908112RYR1c.189-10C>T
c.171-10C>T
c.11779-10C>T (n.11779-10C>T)
c.11764-10C>T (n.11764-10C>T)
c.11761-10C>T (n.11761-10C>T)
c.388-10C>T
c.5148-10C>T
c.11746-10C>T (n.11746-10C>T)
c.11776-10C>T (n.11776-10C>T)
 gnomAD v4
19g.38543526dupCA2814346160RYR1c.189-6dup
c.171-6dup
c.11779-6dup (n.11779-6dup)
c.11764-6dup (n.11764-6dup)
c.11761-6dup (n.11761-6dup)
c.388-6dup
c.5148-6dup
c.11746-6dup (n.11746-6dup)
c.11776-6dup (n.11776-6dup)
19g.38543526delCA2843407542RYR1c.189-6del
c.171-6del
c.11779-6del (n.11779-6del)
c.11764-6del (n.11764-6del)
c.11761-6del (n.11761-6del)
c.388-6del
c.5148-6del
c.11746-6del (n.11746-6del)
c.11776-6del (n.11776-6del)
19g.38543523C>TCA2576804836RYR1c.189-9C>T
c.171-9C>T
c.11779-9C>T (n.11779-9C>T)
c.11764-9C>T (n.11764-9C>T)
c.11761-9C>T (n.11761-9C>T)
c.388-9C>T
c.5148-9C>T
c.11746-9C>T (n.11746-9C>T)
c.11776-9C>T (n.11776-9C>T)
 gnomAD v4
19g.38543525C>TCA2584908113RYR1c.189-7C>T
c.171-7C>T
c.11779-7C>T (n.11779-7C>T)
c.11764-7C>T (n.11764-7C>T)
c.11761-7C>T (n.11761-7C>T)
c.388-7C>T
c.5148-7C>T
c.11746-7C>T (n.11746-7C>T)
c.11776-7C>T (n.11776-7C>T)
 gnomAD v4
19g.38543527A>CCA2513948163RYR1c.189-5A>C
c.171-5A>C
c.11779-5A>C (n.11779-5A>C)
c.11764-5A>C (n.11764-5A>C)
c.11761-5A>C (n.11761-5A>C)
c.388-5A>C
c.5148-5A>C
c.11746-5A>C (n.11746-5A>C)
c.11776-5A>C (n.11776-5A>C)
 dbSNP gnomAD v4
19g.38543527A>GCA2584908114RYR1c.189-5A>G
c.171-5A>G
c.11779-5A>G (n.11779-5A>G)
c.11764-5A>G (n.11764-5A>G)
c.11761-5A>G (n.11761-5A>G)
c.388-5A>G
c.5148-5A>G
c.11746-5A>G (n.11746-5A>G)
c.11776-5A>G (n.11776-5A>G)
 gnomAD v4
19g.38543528C=CA2335074406RYR1c.189-4C=
c.171-4C=
c.11779-4C= (n.11779-4C=)
c.11764-4C= (n.11764-4C=)
c.11761-4C= (n.11761-4C=)
c.388-4C=
c.5148-4C=
c.11746-4C= (n.11746-4C=)
c.11776-4C= (n.11776-4C=)
19g.38543528C>TCA658658817RYR1c.189-4C>T
c.171-4C>T
c.11779-4C>T (n.11779-4C>T)
c.11764-4C>T (n.11764-4C>T)
c.11761-4C>T (n.11761-4C>T)
c.388-4C>T
c.5148-4C>T
c.11746-4C>T (n.11746-4C>T)
c.11776-4C>T (n.11776-4C>T)
 ClinVar dbSNP gnomAD v4
19g.38543529C>GCA2584908115RYR1c.189-3C>G
c.171-3C>G
c.11779-3C>G (n.11779-3C>G)
c.11764-3C>G (n.11764-3C>G)
c.11761-3C>G (n.11761-3C>G)
c.388-3C>G
c.5148-3C>G
c.11746-3C>G (n.11746-3C>G)
c.11776-3C>G (n.11776-3C>G)
 gnomAD v4
19g.38543529C>TCA2520515146RYR1c.189-3C>T
c.171-3C>T
c.11779-3C>T (n.11779-3C>T)
c.11764-3C>T (n.11764-3C>T)
c.11761-3C>T (n.11761-3C>T)
c.388-3C>T
c.5148-3C>T
c.11746-3C>T (n.11746-3C>T)
c.11776-3C>T (n.11776-3C>T)
19g.38543530A>CCA405661533RYR1c.189-2A>C
c.171-2A>C
c.11779-2A>C (n.11779-2A>C)
c.11764-2A>C (n.11764-2A>C)
c.11761-2A>C (n.11761-2A>C)
c.388-2A>C
c.5148-2A>C
c.11746-2A>C (n.11746-2A>C)
c.11776-2A>C (n.11776-2A>C)
 gnomAD v4
19g.38543530A>GCA405661537RYR1c.189-2A>G
c.171-2A>G
c.11779-2A>G (n.11779-2A>G)
c.11764-2A>G (n.11764-2A>G)
c.11761-2A>G (n.11761-2A>G)
c.388-2A>G
c.5148-2A>G
c.11746-2A>G (n.11746-2A>G)
c.11776-2A>G (n.11776-2A>G)
 gnomAD v4
19g.38543530A>TCA405661535RYR1c.189-2A>T
c.171-2A>T
c.11779-2A>T (n.11779-2A>T)
c.11764-2A>T (n.11764-2A>T)
c.11761-2A>T (n.11761-2A>T)
c.388-2A>T
c.5148-2A>T
c.11746-2A>T (n.11746-2A>T)
c.11776-2A>T (n.11776-2A>T)
19g.38543531G>ACA405661541RYR1c.189-1G>A
c.171-1G>A
c.11779-1G>A (n.11779-1G>A)
c.11764-1G>A (n.11764-1G>A)
c.11761-1G>A (n.11761-1G>A)
c.388-1G>A
c.5148-1G>A
c.11746-1G>A (n.11746-1G>A)
c.11776-1G>A (n.11776-1G>A)
 gnomAD v4 COSMIC
19g.38543531G>CCA405661545RYR1c.189-1G>C
c.171-1G>C
c.11779-1G>C (n.11779-1G>C)
c.11764-1G>C (n.11764-1G>C)
c.11761-1G>C (n.11761-1G>C)
c.388-1G>C
c.5148-1G>C
c.11746-1G>C (n.11746-1G>C)
c.11776-1G>C (n.11776-1G>C)
 gnomAD v4
19g.38543531G>TCA405661543RYR1c.189-1G>T
c.171-1G>T
c.11779-1G>T (n.11779-1G>T)
c.11764-1G>T (n.11764-1G>T)
c.11761-1G>T (n.11761-1G>T)
c.388-1G>T
c.5148-1G>T
c.11746-1G>T (n.11746-1G>T)
c.11776-1G>T (n.11776-1G>T)
19g.38543532G>ACA405661550RYR1c.189G>A
c.171G>A
c.11779G>A (p.Glu3927Lys)
c.11764G>A (p.Glu3922Lys)
c.11761G>A (p.Glu3921Lys)
c.388G>A
c.5148G>A
c.11746G>A (p.Glu3916Lys)
c.11776G>A (p.Glu3926Lys)
19g.38543532G>CCA405661552RYR1c.189G>C
c.171G>C
c.11779G>C (p.Glu3927Gln)
c.11764G>C (p.Glu3922Gln)
c.11761G>C (p.Glu3921Gln)
c.388G>C
c.5148G>C
c.11746G>C (p.Glu3916Gln)
c.11776G>C (p.Glu3926Gln)
19g.38543532G>TCA405661556RYR1c.189G>T
c.171G>T
c.11779G>T (p.Glu3927Ter)
c.11764G>T (p.Glu3922Ter)
c.11761G>T (p.Glu3921Ter)
c.388G>T
c.5148G>T
c.11746G>T (p.Glu3916Ter)
c.11776G>T (p.Glu3926Ter)
19g.38543533A>CCA405661559RYR1c.190A>C
c.172A>C
c.11780A>C (p.Glu3927Ala)
c.11765A>C (p.Glu3922Ala)
c.11762A>C (p.Glu3921Ala)
c.389A>C
c.5149A>C
c.11747A>C (p.Glu3916Ala)
c.11777A>C (p.Glu3926Ala)
19g.38543533A>GCA405661560RYR1c.190A>G
c.172A>G
c.11780A>G (p.Glu3927Gly)
c.11765A>G (p.Glu3922Gly)
c.11762A>G (p.Glu3921Gly)
c.389A>G
c.5149A>G
c.11747A>G (p.Glu3916Gly)
c.11777A>G (p.Glu3926Gly)
19g.38543533A>TCA405661564RYR1c.190A>T
c.172A>T
c.11780A>T (p.Glu3927Val)
c.11765A>T (p.Glu3922Val)
c.11762A>T (p.Glu3921Val)
c.389A>T
c.5149A>T
c.11747A>T (p.Glu3916Val)
c.11777A>T (p.Glu3926Val)
19g.38543534A>CCA405661567RYR1c.191A>C
c.173A>C
c.11781A>C (p.Glu3927Asp)
c.11766A>C (p.Glu3922Asp)
c.11763A>C (p.Glu3921Asp)
c.390A>C
c.5150A>C
c.11748A>C (p.Glu3916Asp)
c.11778A>C (p.Glu3926Asp)
19g.38543534A>GCA507354854RYR1c.191A>G
c.173A>G
c.11781A>G (p.Glu3927=)
c.11766A>G (p.Glu3922=)
c.11763A>G (p.Glu3921=)
c.390A>G
c.5150A>G
c.11748A>G (p.Glu3916=)
c.11778A>G (p.Glu3926=)
19g.38543534A>TCA405661570RYR1c.191A>T
c.173A>T
c.11781A>T (p.Glu3927Asp)
c.11766A>T (p.Glu3922Asp)
c.11763A>T (p.Glu3921Asp)
c.390A>T
c.5150A>T
c.11748A>T (p.Glu3916Asp)
c.11778A>T (p.Glu3926Asp)
19g.38543535T>ACA405661572RYR1c.192T>A
c.174T>A
c.11782T>A (p.Ser3928Thr)
c.11767T>A (p.Ser3923Thr)
c.11764T>A (p.Ser3922Thr)
c.391T>A
c.5151T>A
c.11749T>A (p.Ser3917Thr)
c.11779T>A (p.Ser3927Thr)
 gnomAD v4
19g.38543535T>CCA405661575RYR1c.192T>C
c.174T>C
c.11782T>C (p.Ser3928Pro)
c.11767T>C (p.Ser3923Pro)
c.11764T>C (p.Ser3922Pro)
c.391T>C
c.5151T>C
c.11749T>C (p.Ser3917Pro)
c.11779T>C (p.Ser3927Pro)
19g.38543535T>GCA405661578RYR1c.192T>G
c.174T>G
c.11782T>G (p.Ser3928Ala)
c.11767T>G (p.Ser3923Ala)
c.11764T>G (p.Ser3922Ala)
c.391T>G
c.5151T>G
c.11749T>G (p.Ser3917Ala)
c.11779T>G (p.Ser3927Ala)
19g.38543536C>ACA405661587RYR1c.193C>A
c.175C>A
c.11783C>A (p.Ser3928Tyr)
c.11768C>A (p.Ser3923Tyr)
c.11765C>A (p.Ser3922Tyr)
c.392C>A
c.5152C>A
c.11750C>A (p.Ser3917Tyr)
c.11780C>A (p.Ser3927Tyr)
 gnomAD v4
19g.38543536C>GCA405661584RYR1c.193C>G
c.175C>G
c.11783C>G (p.Ser3928Cys)
c.11768C>G (p.Ser3923Cys)
c.11765C>G (p.Ser3922Cys)
c.392C>G
c.5152C>G
c.11750C>G (p.Ser3917Cys)
c.11780C>G (p.Ser3927Cys)
19g.38543536C>TCA405661582RYR1c.193C>T
c.175C>T
c.11783C>T (p.Ser3928Phe)
c.11768C>T (p.Ser3923Phe)
c.11765C>T (p.Ser3922Phe)
c.392C>T
c.5152C>T
c.11750C>T (p.Ser3917Phe)
c.11780C>T (p.Ser3927Phe)
19g.38543537C>ACA507354865RYR1c.194C>A
c.176C>A
c.11784C>A (p.Ser3928=)
c.11769C>A (p.Ser3923=)
c.11766C>A (p.Ser3922=)
c.393C>A
c.5153C>A
c.11751C>A (p.Ser3917=)
c.11781C>A (p.Ser3927=)
19g.38543537C=CA2335074407RYR1c.194C=
c.176C=
c.11784C= (p.Ser3928=)
c.11769C= (p.Ser3923=)
c.11766C= (p.Ser3922=)
c.393C=
c.5153C=
c.11751C= (p.Ser3917=)
c.11781C= (p.Ser3927=)
19g.38543537C>GCA507354867RYR1c.194C>G
c.176C>G
c.11784C>G (p.Ser3928=)
c.11769C>G (p.Ser3923=)
c.11766C>G (p.Ser3922=)
c.393C>G
c.5153C>G
c.11751C>G (p.Ser3917=)
c.11781C>G (p.Ser3927=)
19g.38543537C>TCA507354869RYR1c.194C>T
c.176C>T
c.11784C>T (p.Ser3928=)
c.11769C>T (p.Ser3923=)
c.11766C>T (p.Ser3922=)
c.393C>T
c.5153C>T
c.11751C>T (p.Ser3917=)
c.11781C>T (p.Ser3927=)
 ClinVar dbSNP gnomAD v4
19g.38543538A=CA2335074408RYR1c.195A=
c.177A=
c.11785A= (p.Ile3929=)
c.11770A= (p.Ile3924=)
c.11767A= (p.Ile3923=)
c.394A=
c.5154A=
c.11752A= (p.Ile3918=)
c.11782A= (p.Ile3928=)
19g.38543538A>CCA405661590RYR1c.195A>C
c.177A>C
c.11785A>C (p.Ile3929Leu)
c.11770A>C (p.Ile3924Leu)
c.11767A>C (p.Ile3923Leu)
c.394A>C
c.5154A>C
c.11752A>C (p.Ile3918Leu)
c.11782A>C (p.Ile3928Leu)
19g.38543538A>GCA405661606RYR1c.195A>G
c.177A>G
c.11785A>G (p.Ile3929Val)
c.11770A>G (p.Ile3924Val)
c.11767A>G (p.Ile3923Val)
c.394A>G
c.5154A>G
c.11752A>G (p.Ile3918Val)
c.11782A>G (p.Ile3928Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38543538A>TCA405661612RYR1c.195A>T
c.177A>T
c.11785A>T (p.Ile3929Phe)
c.11770A>T (p.Ile3924Phe)
c.11767A>T (p.Ile3923Phe)
c.394A>T
c.5154A>T
c.11752A>T (p.Ile3918Phe)
c.11782A>T (p.Ile3928Phe)
19g.38543539T>ACA405661614RYR1c.196T>A
c.178T>A
c.11786T>A (p.Ile3929Asn)
c.11771T>A (p.Ile3924Asn)
c.11768T>A (p.Ile3923Asn)
c.395T>A
c.5155T>A
c.11753T>A (p.Ile3918Asn)
c.11783T>A (p.Ile3928Asn)
 gnomAD v4
19g.38543539T>CCA405661616RYR1c.196T>C
c.178T>C
c.11786T>C (p.Ile3929Thr)
c.11771T>C (p.Ile3924Thr)
c.11768T>C (p.Ile3923Thr)
c.395T>C
c.5155T>C
c.11753T>C (p.Ile3918Thr)
c.11783T>C (p.Ile3928Thr)
19g.38543539T>GCA405661618RYR1c.196T>G
c.178T>G
c.11786T>G (p.Ile3929Ser)
c.11771T>G (p.Ile3924Ser)
c.11768T>G (p.Ile3923Ser)
c.395T>G
c.5155T>G
c.11753T>G (p.Ile3918Ser)
c.11783T>G (p.Ile3928Ser)
19g.38543540C>ACA507354877RYR1c.197C>A
c.179C>A
c.11787C>A (p.Ile3929=)
c.11772C>A (p.Ile3924=)
c.11769C>A (p.Ile3923=)
c.396C>A
c.5156C>A
c.11754C>A (p.Ile3918=)
c.11784C>A (p.Ile3928=)
 gnomAD v4
19g.38543540C=CA2335074409RYR1c.197C=
c.179C=
c.11787C= (p.Ile3929=)
c.11772C= (p.Ile3924=)
c.11769C= (p.Ile3923=)
c.396C=
c.5156C=
c.11754C= (p.Ile3918=)
c.11784C= (p.Ile3928=)
19g.38543540C>GCA405661621RYR1c.197C>G
c.179C>G
c.11787C>G (p.Ile3929Met)
c.11772C>G (p.Ile3924Met)
c.11769C>G (p.Ile3923Met)
c.396C>G
c.5156C>G
c.11754C>G (p.Ile3918Met)
c.11784C>G (p.Ile3928Met)
19g.38543540C>TCA507354882RYR1c.197C>T
c.179C>T
c.11787C>T (p.Ile3929=)
c.11772C>T (p.Ile3924=)
c.11769C>T (p.Ile3923=)
c.396C>T
c.5156C>T
c.11754C>T (p.Ile3918=)
c.11784C>T (p.Ile3928=)
 ClinVar dbSNP gnomAD v4
19g.38543541A>CCA405661622RYR1c.198A>C
c.180A>C
c.11788A>C (p.Ser3930Arg)
c.11773A>C (p.Ser3925Arg)
c.11770A>C (p.Ser3924Arg)
c.397A>C
c.5157A>C
c.11755A>C (p.Ser3919Arg)
c.11785A>C (p.Ser3929Arg)
19g.38543541A>GCA405661624RYR1c.198A>G
c.180A>G
c.11788A>G (p.Ser3930Gly)
c.11773A>G (p.Ser3925Gly)
c.11770A>G (p.Ser3924Gly)
c.397A>G
c.5157A>G
c.11755A>G (p.Ser3919Gly)
c.11785A>G (p.Ser3929Gly)
19g.38543541A>TCA405661626RYR1c.198A>T
c.180A>T
c.11788A>T (p.Ser3930Cys)
c.11773A>T (p.Ser3925Cys)
c.11770A>T (p.Ser3924Cys)
c.397A>T
c.5157A>T
c.11755A>T (p.Ser3919Cys)
c.11785A>T (p.Ser3929Cys)
 gnomAD v4
19g.38543542G>ACA405661627RYR1c.199G>A
c.181G>A
c.11789G>A (p.Ser3930Asn)
c.11774G>A (p.Ser3925Asn)
c.11771G>A (p.Ser3924Asn)
c.398G>A
c.5158G>A
c.11756G>A (p.Ser3919Asn)
c.11786G>A (p.Ser3929Asn)
19g.38543542G>CCA405661628RYR1c.199G>C
c.181G>C
c.11789G>C (p.Ser3930Thr)
c.11774G>C (p.Ser3925Thr)
c.11771G>C (p.Ser3924Thr)
c.398G>C
c.5158G>C
c.11756G>C (p.Ser3919Thr)
c.11786G>C (p.Ser3929Thr)
19g.38543542G>TCA405661630RYR1c.199G>T
c.181G>T
c.11789G>T (p.Ser3930Ile)
c.11774G>T (p.Ser3925Ile)
c.11771G>T (p.Ser3924Ile)
c.398G>T
c.5158G>T
c.11756G>T (p.Ser3919Ile)
c.11786G>T (p.Ser3929Ile)
19g.38543543C>ACA405661634RYR1c.200C>A
c.182C>A
c.11790C>A (p.Ser3930Arg)
c.11775C>A (p.Ser3925Arg)
c.11772C>A (p.Ser3924Arg)
c.399C>A
c.5159C>A
c.11757C>A (p.Ser3919Arg)
c.11787C>A (p.Ser3929Arg)
19g.38543543C=CA2335074410RYR1c.200C=
c.182C=
c.11790C= (p.Ser3930=)
c.11775C= (p.Ser3925=)
c.11772C= (p.Ser3924=)
c.399C=
c.5159C=
c.11757C= (p.Ser3919=)
c.11787C= (p.Ser3929=)
19g.38543543C>GCA405661632RYR1c.200C>G
c.182C>G
c.11790C>G (p.Ser3930Arg)
c.11775C>G (p.Ser3925Arg)
c.11772C>G (p.Ser3924Arg)
c.399C>G
c.5159C>G
c.11757C>G (p.Ser3919Arg)
c.11787C>G (p.Ser3929Arg)
 dbSNP
19g.38543543C>TCA507354893RYR1c.200C>T
c.182C>T
c.11790C>T (p.Ser3930=)
c.11775C>T (p.Ser3925=)
c.11772C>T (p.Ser3924=)
c.399C>T
c.5159C>T
c.11757C>T (p.Ser3919=)
c.11787C>T (p.Ser3929=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38543544G>ACA405661639RYR1c.201G>A
c.183G>A
c.11791G>A (p.Asp3931Asn)
c.11776G>A (p.Asp3926Asn)
c.11773G>A (p.Asp3925Asn)
c.400G>A
c.5160G>A
c.11758G>A (p.Asp3920Asn)
c.11788G>A (p.Asp3930Asn)
 ClinVar gnomAD v4 COSMIC
19g.38543544G>CCA405661641RYR1c.201G>C
c.183G>C
c.11791G>C (p.Asp3931His)
c.11776G>C (p.Asp3926His)
c.11773G>C (p.Asp3925His)
c.400G>C
c.5160G>C
c.11758G>C (p.Asp3920His)
c.11788G>C (p.Asp3930His)
19g.38543544G>TCA405661643RYR1c.201G>T
c.183G>T
c.11791G>T (p.Asp3931Tyr)
c.11776G>T (p.Asp3926Tyr)
c.11773G>T (p.Asp3925Tyr)
c.400G>T
c.5160G>T
c.11758G>T (p.Asp3920Tyr)
c.11788G>T (p.Asp3930Tyr)
 gnomAD v4
19g.38543545A>CCA405661646RYR1c.202A>C
c.184A>C
c.11792A>C (p.Asp3931Ala)
c.11777A>C (p.Asp3926Ala)
c.11774A>C (p.Asp3925Ala)
c.401A>C
c.5161A>C
c.11759A>C (p.Asp3920Ala)
c.11789A>C (p.Asp3930Ala)
19g.38543545A>GCA405661647RYR1c.202A>G
c.184A>G
c.11792A>G (p.Asp3931Gly)
c.11777A>G (p.Asp3926Gly)
c.11774A>G (p.Asp3925Gly)
c.401A>G
c.5161A>G
c.11759A>G (p.Asp3920Gly)
c.11789A>G (p.Asp3930Gly)
 gnomAD v4
19g.38543545A>TCA405661649RYR1c.202A>T
c.184A>T
c.11792A>T (p.Asp3931Val)
c.11777A>T (p.Asp3926Val)
c.11774A>T (p.Asp3925Val)
c.401A>T
c.5161A>T
c.11759A>T (p.Asp3920Val)
c.11789A>T (p.Asp3930Val)
19g.38543546C>ACA405661652RYR1c.203C>A
c.185C>A
c.11793C>A (p.Asp3931Glu)
c.11778C>A (p.Asp3926Glu)
c.11775C>A (p.Asp3925Glu)
c.402C>A
c.5162C>A
c.11760C>A (p.Asp3920Glu)
c.11790C>A (p.Asp3930Glu)
19g.38543546C>GCA405661655RYR1c.203C>G
c.185C>G
c.11793C>G (p.Asp3931Glu)
c.11778C>G (p.Asp3926Glu)
c.11775C>G (p.Asp3925Glu)
c.402C>G
c.5162C>G
c.11760C>G (p.Asp3920Glu)
c.11790C>G (p.Asp3930Glu)
19g.38543546C>TCA507354901RYR1c.203C>T
c.185C>T
c.11793C>T (p.Asp3931=)
c.11778C>T (p.Asp3926=)
c.11775C>T (p.Asp3925=)
c.402C>T
c.5162C>T
c.11760C>T (p.Asp3920=)
c.11790C>T (p.Asp3930=)
19g.38543547T>ACA405661658RYR1c.204T>A
c.186T>A
c.11794T>A (p.Phe3932Ile)
c.11779T>A (p.Phe3927Ile)
c.11776T>A (p.Phe3926Ile)
c.403T>A
c.5163T>A
c.11761T>A (p.Phe3921Ile)
c.11791T>A (p.Phe3931Ile)
19g.38543547T>CCA405661661RYR1c.204T>C
c.186T>C
c.11794T>C (p.Phe3932Leu)
c.11779T>C (p.Phe3927Leu)
c.11776T>C (p.Phe3926Leu)
c.403T>C
c.5163T>C
c.11761T>C (p.Phe3921Leu)
c.11791T>C (p.Phe3931Leu)
19g.38543547T>GCA405661666RYR1c.204T>G
c.186T>G
c.11794T>G (p.Phe3932Val)
c.11779T>G (p.Phe3927Val)
c.11776T>G (p.Phe3926Val)
c.403T>G
c.5163T>G
c.11761T>G (p.Phe3921Val)
c.11791T>G (p.Phe3931Val)
19g.38543548T>ACA405661669RYR1c.205T>A
c.187T>A
c.11795T>A (p.Phe3932Tyr)
c.11780T>A (p.Phe3927Tyr)
c.11777T>A (p.Phe3926Tyr)
c.404T>A
c.5164T>A
c.11762T>A (p.Phe3921Tyr)
c.11792T>A (p.Phe3931Tyr)
19g.38543548T>CCA405661672RYR1c.205T>C
c.187T>C
c.11795T>C (p.Phe3932Ser)
c.11780T>C (p.Phe3927Ser)
c.11777T>C (p.Phe3926Ser)
c.404T>C
c.5164T>C
c.11762T>C (p.Phe3921Ser)
c.11792T>C (p.Phe3931Ser)
19g.38543548T>GCA405661674RYR1c.205T>G
c.187T>G
c.11795T>G (p.Phe3932Cys)
c.11780T>G (p.Phe3927Cys)
c.11777T>G (p.Phe3926Cys)
c.404T>G
c.5164T>G
c.11762T>G (p.Phe3921Cys)
c.11792T>G (p.Phe3931Cys)
19g.38543549C>ACA405661681RYR1c.206C>A
c.188C>A
c.11796C>A (p.Phe3932Leu)
c.11781C>A (p.Phe3927Leu)
c.11778C>A (p.Phe3926Leu)
c.405C>A
c.5165C>A
c.11763C>A (p.Phe3921Leu)
c.11793C>A (p.Phe3931Leu)
19g.38543549C>GCA405661679RYR1c.206C>G
c.188C>G
c.11796C>G (p.Phe3932Leu)
c.11781C>G (p.Phe3927Leu)
c.11778C>G (p.Phe3926Leu)
c.405C>G
c.5165C>G
c.11763C>G (p.Phe3921Leu)
c.11793C>G (p.Phe3931Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.38543549C>TCA507354912RYR1c.206C>T
c.188C>T
c.11796C>T (p.Phe3932=)
c.11781C>T (p.Phe3927=)
c.11778C>T (p.Phe3926=)
c.405C>T
c.5165C>T
c.11763C>T (p.Phe3921=)
c.11793C>T (p.Phe3931=)
 gnomAD v4
19g.38543550T>ACA405661685RYR1c.207T>A
c.189T>A
c.11797T>A (p.Tyr3933Asn)
c.11782T>A (p.Tyr3928Asn)
c.11779T>A (p.Tyr3927Asn)
c.406T>A
c.5166T>A
c.11764T>A (p.Tyr3922Asn)
c.11794T>A (p.Tyr3932Asn)
19g.38543550T>CCA080426RYR1c.207T>C
c.189T>C
c.11797T>C (p.Tyr3933His)
c.11782T>C (p.Tyr3928His)
c.11779T>C (p.Tyr3927His)
c.406T>C
c.5166T>C
c.11764T>C (p.Tyr3922His)
c.11794T>C (p.Tyr3932His)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543550T>GCA405661690RYR1c.207T>G
c.189T>G
c.11797T>G (p.Tyr3933Asp)
c.11782T>G (p.Tyr3928Asp)
c.11779T>G (p.Tyr3927Asp)
c.406T>G
c.5166T>G
c.11764T>G (p.Tyr3922Asp)
c.11794T>G (p.Tyr3932Asp)
 gnomAD v4
19g.38543550T=CA2335074411RYR1c.207T=
c.189T=
c.11797T= (p.Tyr3933=)
c.11782T= (p.Tyr3928=)
c.11779T= (p.Tyr3927=)
c.406T=
c.5166T=
c.11764T= (p.Tyr3922=)
c.11794T= (p.Tyr3932=)
19g.38543551A=CA2335074412RYR1c.208A=
c.190A=
c.11798A= (p.Tyr3933=)
c.11783A= (p.Tyr3928=)
c.11780A= (p.Tyr3927=)
c.407A=
c.5167A=
c.11765A= (p.Tyr3922=)
c.11795A= (p.Tyr3932=)
19g.38543551A>CCA405661695RYR1c.208A>C
c.190A>C
c.11798A>C (p.Tyr3933Ser)
c.11783A>C (p.Tyr3928Ser)
c.11780A>C (p.Tyr3927Ser)
c.407A>C
c.5167A>C
c.11765A>C (p.Tyr3922Ser)
c.11795A>C (p.Tyr3932Ser)
 gnomAD v4
19g.38543551A>GCA023938RYR1c.208A>G
c.190A>G
c.11798A>G (p.Tyr3933Cys)
c.11783A>G (p.Tyr3928Cys)
c.11780A>G (p.Tyr3927Cys)
c.407A>G
c.5167A>G
c.11765A>G (p.Tyr3922Cys)
c.11795A>G (p.Tyr3932Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38543551A>TCA405661699RYR1c.208A>T
c.190A>T
c.11798A>T (p.Tyr3933Phe)
c.11783A>T (p.Tyr3928Phe)
c.11780A>T (p.Tyr3927Phe)
c.407A>T
c.5167A>T
c.11765A>T (p.Tyr3922Phe)
c.11795A>T (p.Tyr3932Phe)
19g.38543552C>ACA405661705RYR1c.209C>A
c.191C>A
c.11799C>A (p.Tyr3933Ter)
c.11784C>A (p.Tyr3928Ter)
c.11781C>A (p.Tyr3927Ter)
c.408C>A
c.5168C>A
c.11766C>A (p.Tyr3922Ter)
c.11796C>A (p.Tyr3932Ter)
19g.38543552C>GCA405661702RYR1c.209C>G
c.191C>G
c.11799C>G (p.Tyr3933Ter)
c.11784C>G (p.Tyr3928Ter)
c.11781C>G (p.Tyr3927Ter)
c.408C>G
c.5168C>G
c.11766C>G (p.Tyr3922Ter)
c.11796C>G (p.Tyr3932Ter)
19g.38543552C>TCA507354923RYR1c.209C>T
c.191C>T
c.11799C>T (p.Tyr3933=)
c.11784C>T (p.Tyr3928=)
c.11781C>T (p.Tyr3927=)
c.408C>T
c.5168C>T
c.11766C>T (p.Tyr3922=)
c.11796C>T (p.Tyr3932=)
19g.38543553delCA2736031056RYR1c.210del
c.192del
c.11800del (p.Trp3934GlyfsTer?)
c.11785del (p.Trp3929GlyfsTer?)
c.11782del (p.Trp3928GlyfsTer?)
c.409del
c.5169del
c.11767del (p.Trp3923GlyfsTer?)
c.11797del (p.Trp3933GlyfsTer?)
 dbSNP
19g.38543553T>ACA405661707RYR1c.210T>A
c.192T>A
c.11800T>A (p.Trp3934Arg)
c.11785T>A (p.Trp3929Arg)
c.11782T>A (p.Trp3928Arg)
c.409T>A
c.5169T>A
c.11767T>A (p.Trp3923Arg)
c.11797T>A (p.Trp3933Arg)
19g.38543553T>CCA080454RYR1c.210T>C
c.192T>C
c.11800T>C (p.Trp3934Arg)
c.11785T>C (p.Trp3929Arg)
c.11782T>C (p.Trp3928Arg)
c.409T>C
c.5169T>C
c.11767T>C (p.Trp3923Arg)
c.11797T>C (p.Trp3933Arg)
19g.38543553T>GCA405661711RYR1c.210T>G
c.192T>G
c.11800T>G (p.Trp3934Gly)
c.11785T>G (p.Trp3929Gly)
c.11782T>G (p.Trp3928Gly)
c.409T>G
c.5169T>G
c.11767T>G (p.Trp3923Gly)
c.11797T>G (p.Trp3933Gly)
19g.38543554G>ACA405661716RYR1c.211G>A
c.193G>A
c.11801G>A (p.Trp3934Ter)
c.11786G>A (p.Trp3929Ter)
c.11783G>A (p.Trp3928Ter)
c.410G>A
c.5170G>A
c.11768G>A (p.Trp3923Ter)
c.11798G>A (p.Trp3933Ter)
19g.38543554G>CCA405661720RYR1c.211G>C
c.193G>C
c.11801G>C (p.Trp3934Ser)
c.11786G>C (p.Trp3929Ser)
c.11783G>C (p.Trp3928Ser)
c.410G>C
c.5170G>C
c.11768G>C (p.Trp3923Ser)
c.11798G>C (p.Trp3933Ser)
19g.38543554G>TCA405661723RYR1c.211G>T
c.193G>T
c.11801G>T (p.Trp3934Leu)
c.11786G>T (p.Trp3929Leu)
c.11783G>T (p.Trp3928Leu)
c.410G>T
c.5170G>T
c.11768G>T (p.Trp3923Leu)
c.11798G>T (p.Trp3933Leu)
19g.38543555G>ACA405661727RYR1c.212G>A
c.194G>A
c.11802G>A (p.Trp3934Ter)
c.11787G>A (p.Trp3929Ter)
c.11784G>A (p.Trp3928Ter)
c.411G>A
c.5171G>A
c.11769G>A (p.Trp3923Ter)
c.11799G>A (p.Trp3933Ter)
19g.38543555G>CCA405661758RYR1c.212G>C
c.194G>C
c.11802G>C (p.Trp3934Cys)
c.11787G>C (p.Trp3929Cys)
c.11784G>C (p.Trp3928Cys)
c.411G>C
c.5171G>C
c.11769G>C (p.Trp3923Cys)
c.11799G>C (p.Trp3933Cys)
19g.38543555G>TCA405661743RYR1c.212G>T
c.194G>T
c.11802G>T (p.Trp3934Cys)
c.11787G>T (p.Trp3929Cys)
c.11784G>T (p.Trp3928Cys)
c.411G>T
c.5171G>T
c.11769G>T (p.Trp3923Cys)
c.11799G>T (p.Trp3933Cys)
19g.38543556T>ACA405661759RYR1c.213T>A
c.195T>A
c.11803T>A (p.Tyr3935Asn)
c.11788T>A (p.Tyr3930Asn)
c.11785T>A (p.Tyr3929Asn)
c.412T>A
c.5172T>A
c.11770T>A (p.Tyr3924Asn)
c.11800T>A (p.Tyr3934Asn)
19g.38543556T>CCA405661761RYR1c.213T>C
c.195T>C
c.11803T>C (p.Tyr3935His)
c.11788T>C (p.Tyr3930His)
c.11785T>C (p.Tyr3929His)
c.412T>C
c.5172T>C
c.11770T>C (p.Tyr3924His)
c.11800T>C (p.Tyr3934His)
 gnomAD v4
19g.38543556T>GCA405661760RYR1c.213T>G
c.195T>G
c.11803T>G (p.Tyr3935Asp)
c.11788T>G (p.Tyr3930Asp)
c.11785T>G (p.Tyr3929Asp)
c.412T>G
c.5172T>G
c.11770T>G (p.Tyr3924Asp)
c.11800T>G (p.Tyr3934Asp)
19g.38543557A=CA2335074413RYR1c.214A=
c.196A=
c.11804A= (p.Tyr3935=)
c.11789A= (p.Tyr3930=)
c.11786A= (p.Tyr3929=)
c.413A=
c.5173A=
c.11771A= (p.Tyr3924=)
c.11801A= (p.Tyr3934=)
19g.38543557A>CCA405661764RYR1c.214A>C
c.196A>C
c.11804A>C (p.Tyr3935Ser)
c.11789A>C (p.Tyr3930Ser)
c.11786A>C (p.Tyr3929Ser)
c.413A>C
c.5173A>C
c.11771A>C (p.Tyr3924Ser)
c.11801A>C (p.Tyr3934Ser)
19g.38543557A>GCA405661765RYR1c.214A>G
c.196A>G
c.11804A>G (p.Tyr3935Cys)
c.11789A>G (p.Tyr3930Cys)
c.11786A>G (p.Tyr3929Cys)
c.413A>G
c.5173A>G
c.11771A>G (p.Tyr3924Cys)
c.11801A>G (p.Tyr3934Cys)
 dbSNP gnomAD v4
19g.38543557A>TCA405661766RYR1c.214A>T
c.196A>T
c.11804A>T (p.Tyr3935Phe)
c.11789A>T (p.Tyr3930Phe)
c.11786A>T (p.Tyr3929Phe)
c.413A>T
c.5173A>T
c.11771A>T (p.Tyr3924Phe)
c.11801A>T (p.Tyr3934Phe)
19g.38543558C>ACA405661767RYR1c.215C>A
c.197C>A
c.11805C>A (p.Tyr3935Ter)
c.11790C>A (p.Tyr3930Ter)
c.11787C>A (p.Tyr3929Ter)
c.414C>A
c.5174C>A
c.11772C>A (p.Tyr3924Ter)
c.11802C>A (p.Tyr3934Ter)
19g.38543558C=CA2335074414RYR1c.215C=
c.197C=
c.11805C= (p.Tyr3935=)
c.11790C= (p.Tyr3930=)
c.11787C= (p.Tyr3929=)
c.414C=
c.5174C=
c.11772C= (p.Tyr3924=)
c.11802C= (p.Tyr3934=)
19g.38543558C>GCA405661768RYR1c.215C>G
c.197C>G
c.11805C>G (p.Tyr3935Ter)
c.11790C>G (p.Tyr3930Ter)
c.11787C>G (p.Tyr3929Ter)
c.414C>G
c.5174C>G
c.11772C>G (p.Tyr3924Ter)
c.11802C>G (p.Tyr3934Ter)
 gnomAD v4
19g.38543558C>TCA507354950RYR1c.215C>T
c.197C>T
c.11805C>T (p.Tyr3935=)
c.11790C>T (p.Tyr3930=)
c.11787C>T (p.Tyr3929=)
c.414C>T
c.5174C>T
c.11772C>T (p.Tyr3924=)
c.11802C>T (p.Tyr3934=)
 dbSNP gnomAD v2 gnomAD v4
19g.38543559T>ACA405661769RYR1c.216T>A
c.198T>A
c.11806T>A (p.Tyr3936Asn)
c.11791T>A (p.Tyr3931Asn)
c.11788T>A (p.Tyr3930Asn)
c.415T>A
c.5175T>A
c.11773T>A (p.Tyr3925Asn)
c.11803T>A (p.Tyr3935Asn)
19g.38543559T>CCA405661771RYR1c.216T>C
c.198T>C
c.11806T>C (p.Tyr3936His)
c.11791T>C (p.Tyr3931His)
c.11788T>C (p.Tyr3930His)
c.415T>C
c.5175T>C
c.11773T>C (p.Tyr3925His)
c.11803T>C (p.Tyr3935His)
 gnomAD v4
19g.38543559T>GCA405661773RYR1c.216T>G
c.198T>G
c.11806T>G (p.Tyr3936Asp)
c.11791T>G (p.Tyr3931Asp)
c.11788T>G (p.Tyr3930Asp)
c.415T>G
c.5175T>G
c.11773T>G (p.Tyr3925Asp)
c.11803T>G (p.Tyr3935Asp)
19g.38543560A=CA2335074415RYR1c.217A=
c.199A=
c.11807A= (p.Tyr3936=)
c.11792A= (p.Tyr3931=)
c.11789A= (p.Tyr3930=)
c.416A=
c.5176A=
c.11774A= (p.Tyr3925=)
c.11804A= (p.Tyr3935=)
19g.38543560A>CCA405661775RYR1c.217A>C
c.199A>C
c.11807A>C (p.Tyr3936Ser)
c.11792A>C (p.Tyr3931Ser)
c.11789A>C (p.Tyr3930Ser)
c.416A>C
c.5176A>C
c.11774A>C (p.Tyr3925Ser)
c.11804A>C (p.Tyr3935Ser)
19g.38543560A>GCA405661776RYR1c.217A>G
c.199A>G
c.11807A>G (p.Tyr3936Cys)
c.11792A>G (p.Tyr3931Cys)
c.11789A>G (p.Tyr3930Cys)
c.416A>G
c.5176A>G
c.11774A>G (p.Tyr3925Cys)
c.11804A>G (p.Tyr3935Cys)
 ClinVar gnomAD v4
19g.38543560A>TCA405661777RYR1c.217A>T
c.199A>T
c.11807A>T (p.Tyr3936Phe)
c.11792A>T (p.Tyr3931Phe)
c.11789A>T (p.Tyr3930Phe)
c.416A>T
c.5176A>T
c.11774A>T (p.Tyr3925Phe)
c.11804A>T (p.Tyr3935Phe)
 dbSNP gnomAD v2 gnomAD v4
19g.38543560dupCA2584908116RYR1c.217dup
c.199dup
c.11807dup (p.Tyr3936Ter)
c.11792dup (p.Tyr3931Ter)
c.11789dup (p.Tyr3930Ter)
c.416dup
c.5176dup
c.11774dup (p.Tyr3925Ter)
c.11804dup (p.Tyr3935Ter)
 gnomAD v4
19g.38543561C>ACA405661780RYR1c.218C>A
c.200C>A
c.11808C>A (p.Tyr3936Ter)
c.11793C>A (p.Tyr3931Ter)
c.11790C>A (p.Tyr3930Ter)
c.417C>A
c.5177C>A
c.11775C>A (p.Tyr3925Ter)
c.11805C>A (p.Tyr3935Ter)
19g.38543561C=CA2335074416RYR1c.218C=
c.200C=
c.11808C= (p.Tyr3936=)
c.11793C= (p.Tyr3931=)
c.11790C= (p.Tyr3930=)
c.417C=
c.5177C=
c.11775C= (p.Tyr3925=)
c.11805C= (p.Tyr3935=)
19g.38543561C>GCA405661778RYR1c.218C>G
c.200C>G
c.11808C>G (p.Tyr3936Ter)
c.11793C>G (p.Tyr3931Ter)
c.11790C>G (p.Tyr3930Ter)
c.417C>G
c.5177C>G
c.11775C>G (p.Tyr3925Ter)
c.11805C>G (p.Tyr3935Ter)
19g.38543561C>TCA057691RYR1c.218C>T
c.200C>T
c.11808C>T (p.Tyr3936=)
c.11793C>T (p.Tyr3931=)
c.11790C>T (p.Tyr3930=)
c.417C>T
c.5177C>T
c.11775C>T (p.Tyr3925=)
c.11805C>T (p.Tyr3935=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543562T>ACA405661782RYR1c.219T>A
c.201T>A
c.11809T>A (p.Ser3937Thr)
c.11794T>A (p.Ser3932Thr)
c.11791T>A (p.Ser3931Thr)
c.418T>A
c.5178T>A
c.11776T>A (p.Ser3926Thr)
c.11806T>A (p.Ser3936Thr)
19g.38543562T>CCA405661785RYR1c.219T>C
c.201T>C
c.11809T>C (p.Ser3937Pro)
c.11794T>C (p.Ser3932Pro)
c.11791T>C (p.Ser3931Pro)
c.418T>C
c.5178T>C
c.11776T>C (p.Ser3926Pro)
c.11806T>C (p.Ser3936Pro)
 ClinVar dbSNP
19g.38543562T>GCA405661786RYR1c.219T>G
c.201T>G
c.11809T>G (p.Ser3937Ala)
c.11794T>G (p.Ser3932Ala)
c.11791T>G (p.Ser3931Ala)
c.418T>G
c.5178T>G
c.11776T>G (p.Ser3926Ala)
c.11806T>G (p.Ser3936Ala)
 gnomAD v4
19g.38543562T=CA2335074417RYR1c.219T=
c.201T=
c.11809T= (p.Ser3937=)
c.11794T= (p.Ser3932=)
c.11791T= (p.Ser3931=)
c.418T=
c.5178T=
c.11776T= (p.Ser3926=)
c.11806T= (p.Ser3936=)
19g.38543563C>ACA405661789RYR1c.220C>A
c.202C>A
c.11810C>A (p.Ser3937Ter)
c.11795C>A (p.Ser3932Ter)
c.11792C>A (p.Ser3931Ter)
c.419C>A
c.5179C>A
c.11777C>A (p.Ser3926Ter)
c.11807C>A (p.Ser3936Ter)
 gnomAD v4
19g.38543563C=CA2335074418RYR1c.220C=
c.202C=
c.11810C= (p.Ser3937=)
c.11795C= (p.Ser3932=)
c.11792C= (p.Ser3931=)
c.419C=
c.5179C=
c.11777C= (p.Ser3926=)
c.11807C= (p.Ser3936=)
19g.38543563C>GCA405661790RYR1c.220C>G
c.202C>G
c.11810C>G (p.Ser3937Trp)
c.11795C>G (p.Ser3932Trp)
c.11792C>G (p.Ser3931Trp)
c.419C>G
c.5179C>G
c.11777C>G (p.Ser3926Trp)
c.11807C>G (p.Ser3936Trp)
19g.38543563C>TCA405661792RYR1c.220C>T
c.202C>T
c.11810C>T (p.Ser3937Leu)
c.11795C>T (p.Ser3932Leu)
c.11792C>T (p.Ser3931Leu)
c.419C>T
c.5179C>T
c.11777C>T (p.Ser3926Leu)
c.11807C>T (p.Ser3936Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38543564G>ACA023939RYR1c.221G>A
c.203G>A
c.11811G>A (p.Ser3937=)
c.11796G>A (p.Ser3932=)
c.11793G>A (p.Ser3931=)
c.420G>A
c.5180G>A
c.11778G>A (p.Ser3926=)
c.11808G>A (p.Ser3936=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38543564G>CCA507354966RYR1c.221G>C
c.203G>C
c.11811G>C (p.Ser3937=)
c.11796G>C (p.Ser3932=)
c.11793G>C (p.Ser3931=)
c.420G>C
c.5180G>C
c.11778G>C (p.Ser3926=)
c.11808G>C (p.Ser3936=)
19g.38543564G=CA2335074419RYR1c.221G=
c.203G=
c.11811G= (p.Ser3937=)
c.11796G= (p.Ser3932=)
c.11793G= (p.Ser3931=)
c.420G=
c.5180G=
c.11778G= (p.Ser3926=)
c.11808G= (p.Ser3936=)
19g.38543564G>TCA507354968RYR1c.221G>T
c.203G>T
c.11811G>T (p.Ser3937=)
c.11796G>T (p.Ser3932=)
c.11793G>T (p.Ser3931=)
c.420G>T
c.5180G>T
c.11778G>T (p.Ser3926=)
c.11808G>T (p.Ser3936=)
19g.38543565_38543566delCA2814346166RYR1c.222_223del
c.204_205del
c.11812_11813del (p.Gly3938GlnfsTer5)
c.11797_11798del (p.Gly3933GlnfsTer5)
c.11794_11795del (p.Gly3932GlnfsTer5)
c.421_422del
c.5181_5182del
c.11779_11780del (p.Gly3927GlnfsTer5)
c.11809_11810del (p.Gly3937GlnfsTer5)
19g.38543565G>ACA405661795RYR1c.222G>A
c.204G>A
c.11812G>A (p.Gly3938Ser)
c.11797G>A (p.Gly3933Ser)
c.11794G>A (p.Gly3932Ser)
c.421G>A
c.5181G>A
c.11779G>A (p.Gly3927Ser)
c.11809G>A (p.Gly3937Ser)
 ClinVar
19g.38543565G>CCA405661799RYR1c.222G>C
c.204G>C
c.11812G>C (p.Gly3938Arg)
c.11797G>C (p.Gly3933Arg)
c.11794G>C (p.Gly3932Arg)
c.421G>C
c.5181G>C
c.11779G>C (p.Gly3927Arg)
c.11809G>C (p.Gly3937Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38543565G=CA2335074420RYR1c.222G=
c.204G=
c.11812G= (p.Gly3938=)
c.11797G= (p.Gly3933=)
c.11794G= (p.Gly3932=)
c.421G=
c.5181G=
c.11779G= (p.Gly3927=)
c.11809G= (p.Gly3937=)
19g.38543565G>TCA405661800RYR1c.222G>T
c.204G>T
c.11812G>T (p.Gly3938Cys)
c.11797G>T (p.Gly3933Cys)
c.11794G>T (p.Gly3932Cys)
c.421G>T
c.5181G>T
c.11779G>T (p.Gly3927Cys)
c.11809G>T (p.Gly3937Cys)
19g.38543566G>ACA080431RYR1c.223G>A
c.205G>A
c.11813G>A (p.Gly3938Asp)
c.11798G>A (p.Gly3933Asp)
c.11795G>A (p.Gly3932Asp)
c.422G>A
c.5182G>A
c.11780G>A (p.Gly3927Asp)
c.11810G>A (p.Gly3937Asp)
 ClinVar dbSNP gnomAD v4
19g.38543566G>CCA405661809RYR1c.223G>C
c.205G>C
c.11813G>C (p.Gly3938Ala)
c.11798G>C (p.Gly3933Ala)
c.11795G>C (p.Gly3932Ala)
c.422G>C
c.5182G>C
c.11780G>C (p.Gly3927Ala)
c.11810G>C (p.Gly3937Ala)
19g.38543566G=CA2335074421RYR1c.223G=
c.205G=
c.11813G= (p.Gly3938=)
c.11798G= (p.Gly3933=)
c.11795G= (p.Gly3932=)
c.422G=
c.5182G=
c.11780G= (p.Gly3927=)
c.11810G= (p.Gly3937=)
19g.38543566G>TCA405661805RYR1c.223G>T
c.205G>T
c.11813G>T (p.Gly3938Val)
c.11798G>T (p.Gly3933Val)
c.11795G>T (p.Gly3932Val)
c.422G>T
c.5182G>T
c.11780G>T (p.Gly3927Val)
c.11810G>T (p.Gly3937Val)
 gnomAD v4
19g.38543567C>ACA507354983RYR1c.224C>A
c.206C>A
c.11814C>A (p.Gly3938=)
c.11799C>A (p.Gly3933=)
c.11796C>A (p.Gly3932=)
c.423C>A
c.5183C>A
c.11781C>A (p.Gly3927=)
c.11811C>A (p.Gly3937=)
19g.38543567C>GCA507354980RYR1c.224C>G
c.206C>G
c.11814C>G (p.Gly3938=)
c.11799C>G (p.Gly3933=)
c.11796C>G (p.Gly3932=)
c.423C>G
c.5183C>G
c.11781C>G (p.Gly3927=)
c.11811C>G (p.Gly3937=)
19g.38543567C>TCA507354978RYR1c.224C>T
c.206C>T
c.11814C>T (p.Gly3938=)
c.11799C>T (p.Gly3933=)
c.11796C>T (p.Gly3932=)
c.423C>T
c.5183C>T
c.11781C>T (p.Gly3927=)
c.11811C>T (p.Gly3937=)
 gnomAD v4
19g.38543568A>CCA405661813RYR1c.225A>C
c.207A>C
c.11815A>C (p.Lys3939Gln)
c.11800A>C (p.Lys3934Gln)
c.11797A>C (p.Lys3933Gln)
c.424A>C
c.5184A>C
c.11782A>C (p.Lys3928Gln)
c.11812A>C (p.Lys3938Gln)
19g.38543568A>GCA405661817RYR1c.225A>G
c.207A>G
c.11815A>G (p.Lys3939Glu)
c.11800A>G (p.Lys3934Glu)
c.11797A>G (p.Lys3933Glu)
c.424A>G
c.5184A>G
c.11782A>G (p.Lys3928Glu)
c.11812A>G (p.Lys3938Glu)
19g.38543568A>TCA405661819RYR1c.225A>T
c.207A>T
c.11815A>T (p.Lys3939Ter)
c.11800A>T (p.Lys3934Ter)
c.11797A>T (p.Lys3933Ter)
c.424A>T
c.5184A>T
c.11782A>T (p.Lys3928Ter)
c.11812A>T (p.Lys3938Ter)
19g.38543569A>CCA405661822RYR1c.226A>C
c.208A>C
c.11816A>C (p.Lys3939Thr)
c.11801A>C (p.Lys3934Thr)
c.11798A>C (p.Lys3933Thr)
c.425A>C
c.5185A>C
c.11783A>C (p.Lys3928Thr)
c.11813A>C (p.Lys3938Thr)
19g.38543569A>GCA405661827RYR1c.226A>G
c.208A>G
c.11816A>G (p.Lys3939Arg)
c.11801A>G (p.Lys3934Arg)
c.11798A>G (p.Lys3933Arg)
c.425A>G
c.5185A>G
c.11783A>G (p.Lys3928Arg)
c.11813A>G (p.Lys3938Arg)
19g.38543569A>TCA405661829RYR1c.226A>T
c.208A>T
c.11816A>T (p.Lys3939Met)
c.11801A>T (p.Lys3934Met)
c.11798A>T (p.Lys3933Met)
c.425A>T
c.5185A>T
c.11783A>T (p.Lys3928Met)
c.11813A>T (p.Lys3938Met)
19g.38543570G>ACA507354994RYR1c.227G>A
c.209G>A
c.11817G>A (p.Lys3939=)
c.11802G>A (p.Lys3934=)
c.11799G>A (p.Lys3933=)
c.426G>A
c.5186G>A
c.11784G>A (p.Lys3928=)
c.11814G>A (p.Lys3938=)
 ClinVar dbSNP
19g.38543570G>CCA405661831RYR1c.227G>C
c.209G>C
c.11817G>C (p.Lys3939Asn)
c.11802G>C (p.Lys3934Asn)
c.11799G>C (p.Lys3933Asn)
c.426G>C
c.5186G>C
c.11784G>C (p.Lys3928Asn)
c.11814G>C (p.Lys3938Asn)
19g.38543570G>TCA405661834RYR1c.227G>T
c.209G>T
c.11817G>T (p.Lys3939Asn)
c.11802G>T (p.Lys3934Asn)
c.11799G>T (p.Lys3933Asn)
c.426G>T
c.5186G>T
c.11784G>T (p.Lys3928Asn)
c.11814G>T (p.Lys3938Asn)
19g.38543571G>ACA080436RYR1c.228G>A
c.210G>A
c.11818G>A (p.Asp3940Asn)
c.11803G>A (p.Asp3935Asn)
c.11800G>A (p.Asp3934Asn)
c.427G>A
c.5187G>A
c.11785G>A (p.Asp3929Asn)
c.11815G>A (p.Asp3939Asn)
19g.38543571G>CCA405661839RYR1c.228G>C
c.210G>C
c.11818G>C (p.Asp3940His)
c.11803G>C (p.Asp3935His)
c.11800G>C (p.Asp3934His)
c.427G>C
c.5187G>C
c.11785G>C (p.Asp3929His)
c.11815G>C (p.Asp3939His)
19g.38543571G>TCA405661841RYR1c.228G>T
c.210G>T
c.11818G>T (p.Asp3940Tyr)
c.11803G>T (p.Asp3935Tyr)
c.11800G>T (p.Asp3934Tyr)
c.427G>T
c.5187G>T
c.11785G>T (p.Asp3929Tyr)
c.11815G>T (p.Asp3939Tyr)
19g.38543572A=CA2335074422RYR1c.229A=
c.211A=
c.11819A= (p.Asp3940=)
c.11804A= (p.Asp3935=)
c.11801A= (p.Asp3934=)
c.428A=
c.5188A=
c.11786A= (p.Asp3929=)
c.11816A= (p.Asp3939=)
19g.38543572A>CCA405661844RYR1c.229A>C
c.211A>C
c.11819A>C (p.Asp3940Ala)
c.11804A>C (p.Asp3935Ala)
c.11801A>C (p.Asp3934Ala)
c.428A>C
c.5188A>C
c.11786A>C (p.Asp3929Ala)
c.11816A>C (p.Asp3939Ala)
19g.38543572A>GCA405661850RYR1c.229A>G
c.211A>G
c.11819A>G (p.Asp3940Gly)
c.11804A>G (p.Asp3935Gly)
c.11801A>G (p.Asp3934Gly)
c.428A>G
c.5188A>G
c.11786A>G (p.Asp3929Gly)
c.11816A>G (p.Asp3939Gly)
 ClinVar dbSNP
19g.38543572A>TCA405661853RYR1c.229A>T
c.211A>T
c.11819A>T (p.Asp3940Val)
c.11804A>T (p.Asp3935Val)
c.11801A>T (p.Asp3934Val)
c.428A>T
c.5188A>T
c.11786A>T (p.Asp3929Val)
c.11816A>T (p.Asp3939Val)
19g.38543573T>ACA405661856RYR1c.230T>A
c.212T>A
c.11820T>A (p.Asp3940Glu)
c.11805T>A (p.Asp3935Glu)
c.11802T>A (p.Asp3934Glu)
c.429T>A
c.5189T>A
c.11787T>A (p.Asp3929Glu)
c.11817T>A (p.Asp3939Glu)
19g.38543573T>CCA507355006RYR1c.230T>C
c.212T>C
c.11820T>C (p.Asp3940=)
c.11805T>C (p.Asp3935=)
c.11802T>C (p.Asp3934=)
c.429T>C
c.5189T>C
c.11787T>C (p.Asp3929=)
c.11817T>C (p.Asp3939=)
 gnomAD v4
19g.38543573T>GCA405661859RYR1c.230T>G
c.212T>G
c.11820T>G (p.Asp3940Glu)
c.11805T>G (p.Asp3935Glu)
c.11802T>G (p.Asp3934Glu)
c.429T>G
c.5189T>G
c.11787T>G (p.Asp3929Glu)
c.11817T>G (p.Asp3939Glu)
 ClinVar dbSNP
19g.38543573T=CA2335074423RYR1c.230T=
c.212T=
c.11820T= (p.Asp3940=)
c.11805T= (p.Asp3935=)
c.11802T= (p.Asp3934=)
c.429T=
c.5189T=
c.11787T= (p.Asp3929=)
c.11817T= (p.Asp3939=)
19g.38543574G>ACA405661862RYR1c.231G>A
c.213G>A
c.11821G>A (p.Val3941Ile)
c.11806G>A (p.Val3936Ile)
c.11803G>A (p.Val3935Ile)
c.430G>A
c.5190G>A
c.11788G>A (p.Val3930Ile)
c.11818G>A (p.Val3940Ile)
19g.38543574G>CCA405661864RYR1c.231G>C
c.213G>C
c.11821G>C (p.Val3941Leu)
c.11806G>C (p.Val3936Leu)
c.11803G>C (p.Val3935Leu)
c.430G>C
c.5190G>C
c.11788G>C (p.Val3930Leu)
c.11818G>C (p.Val3940Leu)
19g.38543574G>TCA405661866RYR1c.231G>T
c.213G>T
c.11821G>T (p.Val3941Phe)
c.11806G>T (p.Val3936Phe)
c.11803G>T (p.Val3935Phe)
c.430G>T
c.5190G>T
c.11788G>T (p.Val3930Phe)
c.11818G>T (p.Val3940Phe)
19g.38543575T>ACA405661870RYR1c.232T>A
c.214T>A
c.11822T>A (p.Val3941Asp)
c.11807T>A (p.Val3936Asp)
c.11804T>A (p.Val3935Asp)
c.431T>A
c.5191T>A
c.11789T>A (p.Val3930Asp)
c.11819T>A (p.Val3940Asp)
19g.38543575T>CCA405661882RYR1c.232T>C
c.214T>C
c.11822T>C (p.Val3941Ala)
c.11807T>C (p.Val3936Ala)
c.11804T>C (p.Val3935Ala)
c.431T>C
c.5191T>C
c.11789T>C (p.Val3930Ala)
c.11819T>C (p.Val3940Ala)
19g.38543575T>GCA405661884RYR1c.232T>G
c.214T>G
c.11822T>G (p.Val3941Gly)
c.11807T>G (p.Val3936Gly)
c.11804T>G (p.Val3935Gly)
c.431T>G
c.5191T>G
c.11789T>G (p.Val3930Gly)
c.11819T>G (p.Val3940Gly)
19g.38543576C>ACA507355016RYR1c.233C>A
c.215C>A
c.11823C>A (p.Val3941=)
c.11808C>A (p.Val3936=)
c.11805C>A (p.Val3935=)
c.432C>A
c.5192C>A
c.11790C>A (p.Val3930=)
c.11820C>A (p.Val3940=)
 dbSNP
19g.38543576C>GCA507355017RYR1c.233C>G
c.215C>G
c.11823C>G (p.Val3941=)
c.11808C>G (p.Val3936=)
c.11805C>G (p.Val3935=)
c.432C>G
c.5192C>G
c.11790C>G (p.Val3930=)
c.11820C>G (p.Val3940=)
19g.38543576C>TCA507355019RYR1c.233C>T
c.215C>T
c.11823C>T (p.Val3941=)
c.11808C>T (p.Val3936=)
c.11805C>T (p.Val3935=)
c.432C>T
c.5192C>T
c.11790C>T (p.Val3930=)
c.11820C>T (p.Val3940=)
 ClinVar
19g.38543577A=CA2335074424RYR1c.234A=
c.216A=
c.11824A= (p.Ile3942=)
c.11809A= (p.Ile3937=)
c.11806A= (p.Ile3936=)
c.433A=
c.5193A=
c.11791A= (p.Ile3931=)
c.11821A= (p.Ile3941=)
19g.38543577A>CCA405661888RYR1c.234A>C
c.216A>C
c.11824A>C (p.Ile3942Leu)
c.11809A>C (p.Ile3937Leu)
c.11806A>C (p.Ile3936Leu)
c.433A>C
c.5193A>C
c.11791A>C (p.Ile3931Leu)
c.11821A>C (p.Ile3941Leu)
 gnomAD v4
19g.38543577A>GCA405661891RYR1c.234A>G
c.216A>G
c.11824A>G (p.Ile3942Val)
c.11809A>G (p.Ile3937Val)
c.11806A>G (p.Ile3936Val)
c.433A>G
c.5193A>G
c.11791A>G (p.Ile3931Val)
c.11821A>G (p.Ile3941Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38543577A>TCA405661894RYR1c.234A>T
c.216A>T
c.11824A>T (p.Ile3942Phe)
c.11809A>T (p.Ile3937Phe)
c.11806A>T (p.Ile3936Phe)
c.433A>T
c.5193A>T
c.11791A>T (p.Ile3931Phe)
c.11821A>T (p.Ile3941Phe)
19g.38543578T>ACA405661898RYR1c.235T>A
c.217T>A
c.11825T>A (p.Ile3942Asn)
c.11810T>A (p.Ile3937Asn)
c.11807T>A (p.Ile3936Asn)
c.434T>A
c.5194T>A
c.11792T>A (p.Ile3931Asn)
c.11822T>A (p.Ile3941Asn)
19g.38543578T>CCA405661903RYR1c.235T>C
c.217T>C
c.11825T>C (p.Ile3942Thr)
c.11810T>C (p.Ile3937Thr)
c.11807T>C (p.Ile3936Thr)
c.434T>C
c.5194T>C
c.11792T>C (p.Ile3931Thr)
c.11822T>C (p.Ile3941Thr)
19g.38543578T>GCA405661908RYR1c.235T>G
c.217T>G
c.11825T>G (p.Ile3942Ser)
c.11810T>G (p.Ile3937Ser)
c.11807T>G (p.Ile3936Ser)
c.434T>G
c.5194T>G
c.11792T>G (p.Ile3931Ser)
c.11822T>G (p.Ile3941Ser)
19g.38543579T>ACA507355028RYR1c.236T>A
c.218T>A
c.11826T>A (p.Ile3942=)
c.11811T>A (p.Ile3937=)
c.11808T>A (p.Ile3936=)
c.435T>A
c.5195T>A
c.11793T>A (p.Ile3931=)
c.11823T>A (p.Ile3941=)
19g.38543579T>CCA507355030RYR1c.236T>C
c.218T>C
c.11826T>C (p.Ile3942=)
c.11811T>C (p.Ile3937=)
c.11808T>C (p.Ile3936=)
c.435T>C
c.5195T>C
c.11793T>C (p.Ile3931=)
c.11823T>C (p.Ile3941=)
19g.38543579T>GCA405661909RYR1c.236T>G
c.218T>G
c.11826T>G (p.Ile3942Met)
c.11811T>G (p.Ile3937Met)
c.11808T>G (p.Ile3936Met)
c.435T>G
c.5195T>G
c.11793T>G (p.Ile3931Met)
c.11823T>G (p.Ile3941Met)
19g.38543580G>ACA405661916RYR1c.237G>A
c.219G>A
c.11827G>A (p.Glu3943Lys)
c.11812G>A (p.Glu3938Lys)
c.11809G>A (p.Glu3937Lys)
c.436G>A
c.5196G>A
c.11794G>A (p.Glu3932Lys)
c.11824G>A (p.Glu3942Lys)
19g.38543580G>CCA405661920RYR1c.237G>C
c.219G>C
c.11827G>C (p.Glu3943Gln)
c.11812G>C (p.Glu3938Gln)
c.11809G>C (p.Glu3937Gln)
c.436G>C
c.5196G>C
c.11794G>C (p.Glu3932Gln)
c.11824G>C (p.Glu3942Gln)
19g.38543580G>TCA405661912RYR1c.237G>T
c.219G>T
c.11827G>T (p.Glu3943Ter)
c.11812G>T (p.Glu3938Ter)
c.11809G>T (p.Glu3937Ter)
c.436G>T
c.5196G>T
c.11794G>T (p.Glu3932Ter)
c.11824G>T (p.Glu3942Ter)
19g.38543581A>CCA405661924RYR1c.238A>C
c.220A>C
c.11828A>C (p.Glu3943Ala)
c.11813A>C (p.Glu3938Ala)
c.11810A>C (p.Glu3937Ala)
c.437A>C
c.5197A>C
c.11795A>C (p.Glu3932Ala)
c.11825A>C (p.Glu3942Ala)
19g.38543581A>GCA405661938RYR1c.238A>G
c.220A>G
c.11828A>G (p.Glu3943Gly)
c.11813A>G (p.Glu3938Gly)
c.11810A>G (p.Glu3937Gly)
c.437A>G
c.5197A>G
c.11795A>G (p.Glu3932Gly)
c.11825A>G (p.Glu3942Gly)
19g.38543581A>TCA405661933RYR1c.238A>T
c.220A>T
c.11828A>T (p.Glu3943Val)
c.11813A>T (p.Glu3938Val)
c.11810A>T (p.Glu3937Val)
c.437A>T
c.5197A>T
c.11795A>T (p.Glu3932Val)
c.11825A>T (p.Glu3942Val)
19g.38543582A>CCA405661939RYR1c.239A>C
c.221A>C
c.11829A>C (p.Glu3943Asp)
c.11814A>C (p.Glu3938Asp)
c.11811A>C (p.Glu3937Asp)
c.438A>C
c.5198A>C
c.11796A>C (p.Glu3932Asp)
c.11826A>C (p.Glu3942Asp)
19g.38543582A>GCA507355042RYR1c.239A>G
c.221A>G
c.11829A>G (p.Glu3943=)
c.11814A>G (p.Glu3938=)
c.11811A>G (p.Glu3937=)
c.438A>G
c.5198A>G
c.11796A>G (p.Glu3932=)
c.11826A>G (p.Glu3942=)
 ClinVar gnomAD v4
19g.38543582A>TCA405661940RYR1c.239A>T
c.221A>T
c.11829A>T (p.Glu3943Asp)
c.11814A>T (p.Glu3938Asp)
c.11811A>T (p.Glu3937Asp)
c.438A>T
c.5198A>T
c.11796A>T (p.Glu3932Asp)
c.11826A>T (p.Glu3942Asp)
19g.38543583G>ACA405661951RYR1c.240G>A
c.222G>A
c.11830G>A (p.Glu3944Lys)
c.11815G>A (p.Glu3939Lys)
c.11812G>A (p.Glu3938Lys)
c.439G>A
c.5199G>A
c.11797G>A (p.Glu3933Lys)
c.11827G>A (p.Glu3943Lys)
 dbSNP
19g.38543583G>CCA405661954RYR1c.240G>C
c.222G>C
c.11830G>C (p.Glu3944Gln)
c.11815G>C (p.Glu3939Gln)
c.11812G>C (p.Glu3938Gln)
c.439G>C
c.5199G>C
c.11797G>C (p.Glu3933Gln)
c.11827G>C (p.Glu3943Gln)
19g.38543583G>TCA405661957RYR1c.240G>T
c.222G>T
c.11830G>T (p.Glu3944Ter)
c.11815G>T (p.Glu3939Ter)
c.11812G>T (p.Glu3938Ter)
c.439G>T
c.5199G>T
c.11797G>T (p.Glu3933Ter)
c.11827G>T (p.Glu3943Ter)
19g.38543584A>CCA405661962RYR1c.241A>C
c.223A>C
c.11831A>C (p.Glu3944Ala)
c.11816A>C (p.Glu3939Ala)
c.11813A>C (p.Glu3938Ala)
c.440A>C
c.5200A>C
c.11798A>C (p.Glu3933Ala)
c.11828A>C (p.Glu3943Ala)
19g.38543584A>GCA405661966RYR1c.241A>G
c.223A>G
c.11831A>G (p.Glu3944Gly)
c.11816A>G (p.Glu3939Gly)
c.11813A>G (p.Glu3938Gly)
c.440A>G
c.5200A>G
c.11798A>G (p.Glu3933Gly)
c.11828A>G (p.Glu3943Gly)
19g.38543584A>TCA405661970RYR1c.241A>T
c.223A>T
c.11831A>T (p.Glu3944Val)
c.11816A>T (p.Glu3939Val)
c.11813A>T (p.Glu3938Val)
c.440A>T
c.5200A>T
c.11798A>T (p.Glu3933Val)
c.11828A>T (p.Glu3943Val)
19g.38543585G>ACA507355053RYR1c.242G>A
c.224G>A
c.11832G>A (p.Glu3944=)
c.11817G>A (p.Glu3939=)
c.11814G>A (p.Glu3938=)
c.441G>A
c.5201G>A
c.11799G>A (p.Glu3933=)
c.11829G>A (p.Glu3943=)
 gnomAD v4
19g.38543585G>CCA405661973RYR1c.242G>C
c.224G>C
c.11832G>C (p.Glu3944Asp)
c.11817G>C (p.Glu3939Asp)
c.11814G>C (p.Glu3938Asp)
c.441G>C
c.5201G>C
c.11799G>C (p.Glu3933Asp)
c.11829G>C (p.Glu3943Asp)
19g.38543585G>TCA405661974RYR1c.242G>T
c.224G>T
c.11832G>T (p.Glu3944Asp)
c.11817G>T (p.Glu3939Asp)
c.11814G>T (p.Glu3938Asp)
c.441G>T
c.5201G>T
c.11799G>T (p.Glu3933Asp)
c.11829G>T (p.Glu3943Asp)
19g.38543586C>ACA405661975RYR1c.243C>A
c.225C>A
c.11833C>A (p.Gln3945Lys)
c.11818C>A (p.Gln3940Lys)
c.11815C>A (p.Gln3939Lys)
c.442C>A
c.5202C>A
c.11800C>A (p.Gln3934Lys)
c.11830C>A (p.Gln3944Lys)
19g.38543586C=CA2335074425RYR1c.243C=
c.225C=
c.11833C= (p.Gln3945=)
c.11818C= (p.Gln3940=)
c.11815C= (p.Gln3939=)
c.442C=
c.5202C=
c.11800C= (p.Gln3934=)
c.11830C= (p.Gln3944=)
19g.38543586C>GCA405661976RYR1c.243C>G
c.225C>G
c.11833C>G (p.Gln3945Glu)
c.11818C>G (p.Gln3940Glu)
c.11815C>G (p.Gln3939Glu)
c.442C>G
c.5202C>G
c.11800C>G (p.Gln3934Glu)
c.11830C>G (p.Gln3944Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38543586C>TCA405661977RYR1c.243C>T
c.225C>T
c.11833C>T (p.Gln3945Ter)
c.11818C>T (p.Gln3940Ter)
c.11815C>T (p.Gln3939Ter)
c.442C>T
c.5202C>T
c.11800C>T (p.Gln3934Ter)
c.11830C>T (p.Gln3944Ter)
19g.38543587A=CA2335074426RYR1c.244A=
c.226A=
c.11834A= (p.Gln3945=)
c.11819A= (p.Gln3940=)
c.11816A= (p.Gln3939=)
c.443A=
c.5203A=
c.11801A= (p.Gln3934=)
c.11831A= (p.Gln3944=)
19g.38543587A>CCA405661979RYR1c.244A>C
c.226A>C
c.11834A>C (p.Gln3945Pro)
c.11819A>C (p.Gln3940Pro)
c.11816A>C (p.Gln3939Pro)
c.443A>C
c.5203A>C
c.11801A>C (p.Gln3934Pro)
c.11831A>C (p.Gln3944Pro)
19g.38543587A>GCA405661982RYR1c.244A>G
c.226A>G
c.11834A>G (p.Gln3945Arg)
c.11819A>G (p.Gln3940Arg)
c.11816A>G (p.Gln3939Arg)
c.443A>G
c.5203A>G
c.11801A>G (p.Gln3934Arg)
c.11831A>G (p.Gln3944Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.38543587A>TCA405661987RYR1c.244A>T
c.226A>T
c.11834A>T (p.Gln3945Leu)
c.11819A>T (p.Gln3940Leu)
c.11816A>T (p.Gln3939Leu)
c.443A>T
c.5203A>T
c.11801A>T (p.Gln3934Leu)
c.11831A>T (p.Gln3944Leu)
19g.38543588G>ACA507355067RYR1c.245G>A
c.227G>A
c.11835G>A (p.Gln3945=)
c.11820G>A (p.Gln3940=)
c.11817G>A (p.Gln3939=)
c.444G>A
c.5204G>A
c.11802G>A (p.Gln3934=)
c.11832G>A (p.Gln3944=)
 gnomAD v4
19g.38543588G>CCA405661991RYR1c.245G>C
c.227G>C
c.11835G>C (p.Gln3945His)
c.11820G>C (p.Gln3940His)
c.11817G>C (p.Gln3939His)
c.444G>C
c.5204G>C
c.11802G>C (p.Gln3934His)
c.11832G>C (p.Gln3944His)
19g.38543588G>TCA405661994RYR1c.245G>T
c.227G>T
c.11835G>T (p.Gln3945His)
c.11820G>T (p.Gln3940His)
c.11817G>T (p.Gln3939His)
c.444G>T
c.5204G>T
c.11802G>T (p.Gln3934His)
c.11832G>T (p.Gln3944His)
19g.38543589G>ACA405661996RYR1c.246G>A
c.228G>A
c.11836G>A (p.Gly3946Ser)
c.11821G>A (p.Gly3941Ser)
c.11818G>A (p.Gly3940Ser)
c.445G>A
c.5205G>A
c.11803G>A (p.Gly3935Ser)
c.11833G>A (p.Gly3945Ser)
 dbSNP
19g.38543589G>CCA405662000RYR1c.246G>C
c.228G>C
c.11836G>C (p.Gly3946Arg)
c.11821G>C (p.Gly3941Arg)
c.11818G>C (p.Gly3940Arg)
c.445G>C
c.5205G>C
c.11803G>C (p.Gly3935Arg)
c.11833G>C (p.Gly3945Arg)
19g.38543589G=CA2335074427RYR1c.246G=
c.228G=
c.11836G= (p.Gly3946=)
c.11821G= (p.Gly3941=)
c.11818G= (p.Gly3940=)
c.445G=
c.5205G=
c.11803G= (p.Gly3935=)
c.11833G= (p.Gly3945=)
19g.38543589G>TCA405662008RYR1c.246G>T
c.228G>T
c.11836G>T (p.Gly3946Cys)
c.11821G>T (p.Gly3941Cys)
c.11818G>T (p.Gly3940Cys)
c.445G>T
c.5205G>T
c.11803G>T (p.Gly3935Cys)
c.11833G>T (p.Gly3945Cys)
19g.38543590G>ACA405662011RYR1c.247G>A
c.229G>A
c.11837G>A (p.Gly3946Asp)
c.11822G>A (p.Gly3941Asp)
c.11819G>A (p.Gly3940Asp)
c.446G>A
c.5206G>A
c.11804G>A (p.Gly3935Asp)
c.11834G>A (p.Gly3945Asp)
19g.38543590G>CCA405662014RYR1c.247G>C
c.229G>C
c.11837G>C (p.Gly3946Ala)
c.11822G>C (p.Gly3941Ala)
c.11819G>C (p.Gly3940Ala)
c.446G>C
c.5206G>C
c.11804G>C (p.Gly3935Ala)
c.11834G>C (p.Gly3945Ala)
19g.38543590G>TCA405662020RYR1c.247G>T
c.229G>T
c.11837G>T (p.Gly3946Val)
c.11822G>T (p.Gly3941Val)
c.11819G>T (p.Gly3940Val)
c.446G>T
c.5206G>T
c.11804G>T (p.Gly3935Val)
c.11834G>T (p.Gly3945Val)
 gnomAD v4
19g.38543591C>ACA507355079RYR1c.248C>A
c.230C>A
c.11838C>A (p.Gly3946=)
c.11823C>A (p.Gly3941=)
c.11820C>A (p.Gly3940=)
c.447C>A
c.5207C>A
c.11805C>A (p.Gly3935=)
c.11835C>A (p.Gly3945=)
19g.38543591C=CA2335074428RYR1c.248C=
c.230C=
c.11838C= (p.Gly3946=)
c.11823C= (p.Gly3941=)
c.11820C= (p.Gly3940=)
c.447C=
c.5207C=
c.11805C= (p.Gly3935=)
c.11835C= (p.Gly3945=)
19g.38543591C>GCA507355077RYR1c.248C>G
c.230C>G
c.11838C>G (p.Gly3946=)
c.11823C>G (p.Gly3941=)
c.11820C>G (p.Gly3940=)
c.447C>G
c.5207C>G
c.11805C>G (p.Gly3935=)
c.11835C>G (p.Gly3945=)
19g.38543591C>TCA057694RYR1c.248C>T
c.230C>T
c.11838C>T (p.Gly3946=)
c.11823C>T (p.Gly3941=)
c.11820C>T (p.Gly3940=)
c.447C>T
c.5207C>T
c.11805C>T (p.Gly3935=)
c.11835C>T (p.Gly3945=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543592A>CCA405662028RYR1c.249A>C
c.231A>C
c.11839A>C (p.Lys3947Gln)
c.11824A>C (p.Lys3942Gln)
c.11821A>C (p.Lys3941Gln)
c.448A>C
c.5208A>C
c.11806A>C (p.Lys3936Gln)
c.11836A>C (p.Lys3946Gln)
19g.38543592A>GCA405662030RYR1c.249A>G
c.231A>G
c.11839A>G (p.Lys3947Glu)
c.11824A>G (p.Lys3942Glu)
c.11821A>G (p.Lys3941Glu)
c.448A>G
c.5208A>G
c.11806A>G (p.Lys3936Glu)
c.11836A>G (p.Lys3946Glu)
19g.38543592A>TCA405662031RYR1c.249A>T
c.231A>T
c.11839A>T (p.Lys3947Ter)
c.11824A>T (p.Lys3942Ter)
c.11821A>T (p.Lys3941Ter)
c.448A>T
c.5208A>T
c.11806A>T (p.Lys3936Ter)
c.11836A>T (p.Lys3946Ter)
19g.38543593A>CCA405662033RYR1c.250A>C
c.232A>C
c.11840A>C (p.Lys3947Thr)
c.11825A>C (p.Lys3942Thr)
c.11822A>C (p.Lys3941Thr)
c.449A>C
c.5209A>C
c.11807A>C (p.Lys3936Thr)
c.11837A>C (p.Lys3946Thr)
 gnomAD v4
19g.38543593A>GCA405662035RYR1c.250A>G
c.232A>G
c.11840A>G (p.Lys3947Arg)
c.11825A>G (p.Lys3942Arg)
c.11822A>G (p.Lys3941Arg)
c.449A>G
c.5209A>G
c.11807A>G (p.Lys3936Arg)
c.11837A>G (p.Lys3946Arg)
19g.38543593A>TCA405662038RYR1c.250A>T
c.232A>T
c.11840A>T (p.Lys3947Met)
c.11825A>T (p.Lys3942Met)
c.11822A>T (p.Lys3941Met)
c.449A>T
c.5209A>T
c.11807A>T (p.Lys3936Met)
c.11837A>T (p.Lys3946Met)
19g.38543594G>ACA507355089RYR1c.251G>A
c.233G>A
c.11841G>A (p.Lys3947=)
c.11826G>A (p.Lys3942=)
c.11823G>A (p.Lys3941=)
c.450G>A
c.5210G>A
c.11808G>A (p.Lys3936=)
c.11838G>A (p.Lys3946=)
19g.38543594G>CCA405662040RYR1c.251G>C
c.233G>C
c.11841G>C (p.Lys3947Asn)
c.11826G>C (p.Lys3942Asn)
c.11823G>C (p.Lys3941Asn)
c.450G>C
c.5210G>C
c.11808G>C (p.Lys3936Asn)
c.11838G>C (p.Lys3946Asn)
 gnomAD v4
19g.38543594G>TCA405662043RYR1c.251G>T
c.233G>T
c.11841G>T (p.Lys3947Asn)
c.11826G>T (p.Lys3942Asn)
c.11823G>T (p.Lys3941Asn)
c.450G>T
c.5210G>T
c.11808G>T (p.Lys3936Asn)
c.11838G>T (p.Lys3946Asn)
19g.38543595A=CA2335074429RYR1c.252A=
c.234A=
c.11842A= (p.Arg3948=)
c.11827A= (p.Arg3943=)
c.11824A= (p.Arg3942=)
c.451A=
c.5211A=
c.11809A= (p.Arg3937=)
c.11839A= (p.Arg3947=)
19g.38543595A>CCA507355093RYR1c.252A>C
c.234A>C
c.11842A>C (p.Arg3948=)
c.11827A>C (p.Arg3943=)
c.11824A>C (p.Arg3942=)
c.451A>C
c.5211A>C
c.11809A>C (p.Arg3937=)
c.11839A>C (p.Arg3947=)
19g.38543595A>GCA057697RYR1c.252A>G
c.234A>G
c.11842A>G (p.Arg3948Gly)
c.11827A>G (p.Arg3943Gly)
c.11824A>G (p.Arg3942Gly)
c.451A>G
c.5211A>G
c.11809A>G (p.Arg3937Gly)
c.11839A>G (p.Arg3947Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38543595A>TCA405662046RYR1c.252A>T
c.234A>T
c.11842A>T (p.Arg3948Trp)
c.11827A>T (p.Arg3943Trp)
c.11824A>T (p.Arg3942Trp)
c.451A>T
c.5211A>T
c.11809A>T (p.Arg3937Trp)
c.11839A>T (p.Arg3947Trp)
19g.38543596G>ACA405662049RYR1c.253G>A
c.235G>A
c.11843G>A (p.Arg3948Lys)
c.11828G>A (p.Arg3943Lys)
c.11825G>A (p.Arg3942Lys)
c.452G>A
c.5212G>A
c.11810G>A (p.Arg3937Lys)
c.11840G>A (p.Arg3947Lys)
 dbSNP gnomAD v2 gnomAD v4
19g.38543596G>CCA405662051RYR1c.253G>C
c.235G>C
c.11843G>C (p.Arg3948Thr)
c.11828G>C (p.Arg3943Thr)
c.11825G>C (p.Arg3942Thr)
c.452G>C
c.5212G>C
c.11810G>C (p.Arg3937Thr)
c.11840G>C (p.Arg3947Thr)
19g.38543596G=CA2335074430RYR1c.253G=
c.235G=
c.11843G= (p.Arg3948=)
c.11828G= (p.Arg3943=)
c.11825G= (p.Arg3942=)
c.452G=
c.5212G=
c.11810G= (p.Arg3937=)
c.11840G= (p.Arg3947=)
19g.38543596G>TCA405662054RYR1c.253G>T
c.235G>T
c.11843G>T (p.Arg3948Met)
c.11828G>T (p.Arg3943Met)
c.11825G>T (p.Arg3942Met)
c.452G>T
c.5212G>T
c.11810G>T (p.Arg3937Met)
c.11840G>T (p.Arg3947Met)
19g.38543597G>ACA507355103RYR1c.254G>A
c.236G>A
c.11844G>A (p.Arg3948=)
c.11829G>A (p.Arg3943=)
c.11826G>A (p.Arg3942=)
c.453G>A
c.5213G>A
c.11811G>A (p.Arg3937=)
c.11841G>A (p.Arg3947=)
 COSMIC
19g.38543597G>CCA405662056RYR1c.254G>C
c.236G>C
c.11844G>C (p.Arg3948Ser)
c.11829G>C (p.Arg3943Ser)
c.11826G>C (p.Arg3942Ser)
c.453G>C
c.5213G>C
c.11811G>C (p.Arg3937Ser)
c.11841G>C (p.Arg3947Ser)
19g.38543597G>TCA405662059RYR1c.254G>T
c.236G>T
c.11844G>T (p.Arg3948Ser)
c.11829G>T (p.Arg3943Ser)
c.11826G>T (p.Arg3942Ser)
c.453G>T
c.5213G>T
c.11811G>T (p.Arg3937Ser)
c.11841G>T (p.Arg3947Ser)
19g.38543598A>CCA405662066RYR1c.255A>C
c.237A>C
c.11845A>C (p.Asn3949His)
c.11830A>C (p.Asn3944His)
c.11827A>C (p.Asn3943His)
c.454A>C
c.5214A>C
c.11812A>C (p.Asn3938His)
c.11842A>C (p.Asn3948His)
19g.38543598A>GCA080462RYR1c.255A>G
c.237A>G
c.11845A>G (p.Asn3949Asp)
c.11830A>G (p.Asn3944Asp)
c.11827A>G (p.Asn3943Asp)
c.454A>G
c.5214A>G
c.11812A>G (p.Asn3938Asp)
c.11842A>G (p.Asn3948Asp)
19g.38543598A>TCA405662064RYR1c.255A>T
c.237A>T
c.11845A>T (p.Asn3949Tyr)
c.11830A>T (p.Asn3944Tyr)
c.11827A>T (p.Asn3943Tyr)
c.454A>T
c.5214A>T
c.11812A>T (p.Asn3938Tyr)
c.11842A>T (p.Asn3948Tyr)
 gnomAD v4
19g.38543599A>CCA405662069RYR1c.256A>C
c.238A>C
c.11846A>C (p.Asn3949Thr)
c.11831A>C (p.Asn3944Thr)
c.11828A>C (p.Asn3943Thr)
c.455A>C
c.5215A>C
c.11813A>C (p.Asn3938Thr)
c.11843A>C (p.Asn3948Thr)
19g.38543599A>GCA405662071RYR1c.256A>G
c.238A>G
c.11846A>G (p.Asn3949Ser)
c.11831A>G (p.Asn3944Ser)
c.11828A>G (p.Asn3943Ser)
c.455A>G
c.5215A>G
c.11813A>G (p.Asn3938Ser)
c.11843A>G (p.Asn3948Ser)
19g.38543599A>TCA405662073RYR1c.256A>T
c.238A>T
c.11846A>T (p.Asn3949Ile)
c.11831A>T (p.Asn3944Ile)
c.11828A>T (p.Asn3943Ile)
c.455A>T
c.5215A>T
c.11813A>T (p.Asn3938Ile)
c.11843A>T (p.Asn3948Ile)
19g.38543600C>ACA405662075RYR1c.257C>A
c.239C>A
c.11847C>A (p.Asn3949Lys)
c.11832C>A (p.Asn3944Lys)
c.11829C>A (p.Asn3943Lys)
c.456C>A
c.5216C>A
c.11814C>A (p.Asn3938Lys)
c.11844C>A (p.Asn3948Lys)
19g.38543600C>GCA405662081RYR1c.257C>G
c.239C>G
c.11847C>G (p.Asn3949Lys)
c.11832C>G (p.Asn3944Lys)
c.11829C>G (p.Asn3943Lys)
c.456C>G
c.5216C>G
c.11814C>G (p.Asn3938Lys)
c.11844C>G (p.Asn3948Lys)
19g.38543600C>TCA507355116RYR1c.257C>T
c.239C>T
c.11847C>T (p.Asn3949=)
c.11832C>T (p.Asn3944=)
c.11829C>T (p.Asn3943=)
c.456C>T
c.5216C>T
c.11814C>T (p.Asn3938=)
c.11844C>T (p.Asn3948=)
 ClinVar
19g.38543601T>ACA405662085RYR1c.258T>A
c.240T>A
c.11848T>A (p.Phe3950Ile)
c.11833T>A (p.Phe3945Ile)
c.11830T>A (p.Phe3944Ile)
c.457T>A
c.5217T>A
c.11815T>A (p.Phe3939Ile)
c.11845T>A (p.Phe3949Ile)
 dbSNP
19g.38543601T>CCA405662089RYR1c.258T>C
c.240T>C
c.11848T>C (p.Phe3950Leu)
c.11833T>C (p.Phe3945Leu)
c.11830T>C (p.Phe3944Leu)
c.457T>C
c.5217T>C
c.11815T>C (p.Phe3939Leu)
c.11845T>C (p.Phe3949Leu)
19g.38543601T>GCA405662087RYR1c.258T>G
c.240T>G
c.11848T>G (p.Phe3950Val)
c.11833T>G (p.Phe3945Val)
c.11830T>G (p.Phe3944Val)
c.457T>G
c.5217T>G
c.11815T>G (p.Phe3939Val)
c.11845T>G (p.Phe3949Val)
19g.38543601T=CA2335074431RYR1c.258T=
c.240T=
c.11848T= (p.Phe3950=)
c.11833T= (p.Phe3945=)
c.11830T= (p.Phe3944=)
c.457T=
c.5217T=
c.11815T= (p.Phe3939=)
c.11845T= (p.Phe3949=)
19g.38543602T>ACA405662092RYR1c.259T>A
c.241T>A
c.11849T>A (p.Phe3950Tyr)
c.11834T>A (p.Phe3945Tyr)
c.11831T>A (p.Phe3944Tyr)
c.458T>A
c.5218T>A
c.11816T>A (p.Phe3939Tyr)
c.11846T>A (p.Phe3949Tyr)
19g.38543602T>CCA405662095RYR1c.259T>C
c.241T>C
c.11849T>C (p.Phe3950Ser)
c.11834T>C (p.Phe3945Ser)
c.11831T>C (p.Phe3944Ser)
c.458T>C
c.5218T>C
c.11816T>C (p.Phe3939Ser)
c.11846T>C (p.Phe3949Ser)
19g.38543602T>GCA405662097RYR1c.259T>G
c.241T>G
c.11849T>G (p.Phe3950Cys)
c.11834T>G (p.Phe3945Cys)
c.11831T>G (p.Phe3944Cys)
c.458T>G
c.5218T>G
c.11816T>G (p.Phe3939Cys)
c.11846T>G (p.Phe3949Cys)
19g.38543603C>ACA405662099RYR1c.260C>A
c.242C>A
c.11850C>A (p.Phe3950Leu)
c.11835C>A (p.Phe3945Leu)
c.11832C>A (p.Phe3944Leu)
c.459C>A
c.5219C>A
c.11817C>A (p.Phe3939Leu)
c.11847C>A (p.Phe3949Leu)
19g.38543603C>GCA405662103RYR1c.260C>G
c.242C>G
c.11850C>G (p.Phe3950Leu)
c.11835C>G (p.Phe3945Leu)
c.11832C>G (p.Phe3944Leu)
c.459C>G
c.5219C>G
c.11817C>G (p.Phe3939Leu)
c.11847C>G (p.Phe3949Leu)
19g.38543603C>TCA507355130RYR1c.260C>T
c.242C>T
c.11850C>T (p.Phe3950=)
c.11835C>T (p.Phe3945=)
c.11832C>T (p.Phe3944=)
c.459C>T
c.5219C>T
c.11817C>T (p.Phe3939=)
c.11847C>T (p.Phe3949=)
19g.38543604T>ACA405662104RYR1c.261T>A
c.243T>A
c.11851T>A (p.Ser3951Thr)
c.11836T>A (p.Ser3946Thr)
c.11833T>A (p.Ser3945Thr)
c.460T>A
c.5220T>A
c.11818T>A (p.Ser3940Thr)
c.11848T>A (p.Ser3950Thr)
19g.38543604T>CCA405662105RYR1c.261T>C
c.243T>C
c.11851T>C (p.Ser3951Pro)
c.11836T>C (p.Ser3946Pro)
c.11833T>C (p.Ser3945Pro)
c.460T>C
c.5220T>C
c.11818T>C (p.Ser3940Pro)
c.11848T>C (p.Ser3950Pro)
19g.38543604T>GCA405662106RYR1c.261T>G
c.243T>G
c.11851T>G (p.Ser3951Ala)
c.11836T>G (p.Ser3946Ala)
c.11833T>G (p.Ser3945Ala)
c.460T>G
c.5220T>G
c.11818T>G (p.Ser3940Ala)
c.11848T>G (p.Ser3950Ala)
19g.38543605C>ACA405662107RYR1c.262C>A
c.244C>A
c.11852C>A (p.Ser3951Tyr)
c.11837C>A (p.Ser3946Tyr)
c.11834C>A (p.Ser3945Tyr)
c.461C>A
c.5221C>A
c.11819C>A (p.Ser3940Tyr)
c.11849C>A (p.Ser3950Tyr)
19g.38543605C>GCA405662108RYR1c.262C>G
c.244C>G
c.11852C>G (p.Ser3951Cys)
c.11837C>G (p.Ser3946Cys)
c.11834C>G (p.Ser3945Cys)
c.461C>G
c.5221C>G
c.11819C>G (p.Ser3940Cys)
c.11849C>G (p.Ser3950Cys)
 COSMIC
19g.38543605C>TCA405662110RYR1c.262C>T
c.244C>T
c.11852C>T (p.Ser3951Phe)
c.11837C>T (p.Ser3946Phe)
c.11834C>T (p.Ser3945Phe)
c.461C>T
c.5221C>T
c.11819C>T (p.Ser3940Phe)
c.11849C>T (p.Ser3950Phe)
19g.38543606C>ACA507355140RYR1c.263C>A
c.245C>A
c.11853C>A (p.Ser3951=)
c.11838C>A (p.Ser3946=)
c.11835C>A (p.Ser3945=)
c.462C>A
c.5222C>A
c.11820C>A (p.Ser3940=)
c.11850C>A (p.Ser3950=)
19g.38543606C>GCA507355144RYR1c.263C>G
c.245C>G
c.11853C>G (p.Ser3951=)
c.11838C>G (p.Ser3946=)
c.11835C>G (p.Ser3945=)
c.462C>G
c.5222C>G
c.11820C>G (p.Ser3940=)
c.11850C>G (p.Ser3950=)
19g.38543606C>TCA507355146RYR1c.263C>T
c.245C>T
c.11853C>T (p.Ser3951=)
c.11838C>T (p.Ser3946=)
c.11835C>T (p.Ser3945=)
c.462C>T
c.5222C>T
c.11820C>T (p.Ser3940=)
c.11850C>T (p.Ser3950=)
19g.38543607A>CCA405662112RYR1c.264A>C
c.246A>C
c.11854A>C (p.Lys3952Gln)
c.11839A>C (p.Lys3947Gln)
c.11836A>C (p.Lys3946Gln)
c.463A>C
c.5223A>C
c.11821A>C (p.Lys3941Gln)
c.11851A>C (p.Lys3951Gln)
19g.38543607A>GCA405662114RYR1c.264A>G
c.246A>G
c.11854A>G (p.Lys3952Glu)
c.11839A>G (p.Lys3947Glu)
c.11836A>G (p.Lys3946Glu)
c.463A>G
c.5223A>G
c.11821A>G (p.Lys3941Glu)
c.11851A>G (p.Lys3951Glu)
19g.38543607A>TCA405662113RYR1c.264A>T
c.246A>T
c.11854A>T (p.Lys3952Ter)
c.11839A>T (p.Lys3947Ter)
c.11836A>T (p.Lys3946Ter)
c.463A>T
c.5223A>T
c.11821A>T (p.Lys3941Ter)
c.11851A>T (p.Lys3951Ter)
19g.38543608A>CCA405662116RYR1c.265A>C
c.247A>C
c.11855A>C (p.Lys3952Thr)
c.11840A>C (p.Lys3947Thr)
c.11837A>C (p.Lys3946Thr)
c.464A>C
c.5224A>C
c.11822A>C (p.Lys3941Thr)
c.11852A>C (p.Lys3951Thr)
19g.38543608A>GCA405662119RYR1c.265A>G
c.247A>G
c.11855A>G (p.Lys3952Arg)
c.11840A>G (p.Lys3947Arg)
c.11837A>G (p.Lys3946Arg)
c.464A>G
c.5224A>G
c.11822A>G (p.Lys3941Arg)
c.11852A>G (p.Lys3951Arg)
19g.38543608A>TCA405662117RYR1c.265A>T
c.247A>T
c.11855A>T (p.Lys3952Ile)
c.11840A>T (p.Lys3947Ile)
c.11837A>T (p.Lys3946Ile)
c.464A>T
c.5224A>T
c.11822A>T (p.Lys3941Ile)
c.11852A>T (p.Lys3951Ile)
19g.38543609A>CCA405662122RYR1c.266A>C
c.248A>C
c.11856A>C (p.Lys3952Asn)
c.11841A>C (p.Lys3947Asn)
c.11838A>C (p.Lys3946Asn)
c.465A>C
c.5225A>C
c.11823A>C (p.Lys3941Asn)
c.11853A>C (p.Lys3951Asn)
19g.38543609A>GCA507355163RYR1c.266A>G
c.248A>G
c.11856A>G (p.Lys3952=)
c.11841A>G (p.Lys3947=)
c.11838A>G (p.Lys3946=)
c.465A>G
c.5225A>G
c.11823A>G (p.Lys3941=)
c.11853A>G (p.Lys3951=)
 ClinVar
19g.38543609A>TCA405662124RYR1c.266A>T
c.248A>T
c.11856A>T (p.Lys3952Asn)
c.11841A>T (p.Lys3947Asn)
c.11838A>T (p.Lys3946Asn)
c.465A>T
c.5225A>T
c.11823A>T (p.Lys3941Asn)
c.11853A>T (p.Lys3951Asn)
19g.38543610G>ACA405662127RYR1c.267G>A
c.249G>A
c.11857G>A (p.Ala3953Thr)
c.11842G>A (p.Ala3948Thr)
c.11839G>A (p.Ala3947Thr)
c.466G>A
c.5226G>A
c.11824G>A (p.Ala3942Thr)
c.11854G>A (p.Ala3952Thr)
19g.38543610G>CCA405662129RYR1c.267G>C
c.249G>C
c.11857G>C (p.Ala3953Pro)
c.11842G>C (p.Ala3948Pro)
c.11839G>C (p.Ala3947Pro)
c.466G>C
c.5226G>C
c.11824G>C (p.Ala3942Pro)
c.11854G>C (p.Ala3952Pro)
19g.38543610G>TCA405662131RYR1c.267G>T
c.249G>T
c.11857G>T (p.Ala3953Ser)
c.11842G>T (p.Ala3948Ser)
c.11839G>T (p.Ala3947Ser)
c.466G>T
c.5226G>T
c.11824G>T (p.Ala3942Ser)
c.11854G>T (p.Ala3952Ser)
19g.38543611C>ACA405662135RYR1c.268C>A
c.250C>A
c.11858C>A (p.Ala3953Asp)
c.11843C>A (p.Ala3948Asp)
c.11840C>A (p.Ala3947Asp)
c.467C>A
c.5227C>A
c.11825C>A (p.Ala3942Asp)
c.11855C>A (p.Ala3952Asp)
 COSMIC
19g.38543611C>GCA405662137RYR1c.268C>G
c.250C>G
c.11858C>G (p.Ala3953Gly)
c.11843C>G (p.Ala3948Gly)
c.11840C>G (p.Ala3947Gly)
c.467C>G
c.5227C>G
c.11825C>G (p.Ala3942Gly)
c.11855C>G (p.Ala3952Gly)
19g.38543611C>TCA405662139RYR1c.268C>T
c.250C>T
c.11858C>T (p.Ala3953Val)
c.11843C>T (p.Ala3948Val)
c.11840C>T (p.Ala3947Val)
c.467C>T
c.5227C>T
c.11825C>T (p.Ala3942Val)
c.11855C>T (p.Ala3952Val)
19g.38543612C>ACA507355172RYR1c.269C>A
c.251C>A
c.11859C>A (p.Ala3953=)
c.11844C>A (p.Ala3948=)
c.11841C>A (p.Ala3947=)
c.468C>A
c.5228C>A
c.11826C>A (p.Ala3942=)
c.11856C>A (p.Ala3952=)
19g.38543612C=CA2335074432RYR1c.269C=
c.251C=
c.11859C= (p.Ala3953=)
c.11844C= (p.Ala3948=)
c.11841C= (p.Ala3947=)
c.468C=
c.5228C=
c.11826C= (p.Ala3942=)
c.11856C= (p.Ala3952=)
19g.38543612C>GCA507355177RYR1c.269C>G
c.251C>G
c.11859C>G (p.Ala3953=)
c.11844C>G (p.Ala3948=)
c.11841C>G (p.Ala3947=)
c.468C>G
c.5228C>G
c.11826C>G (p.Ala3942=)
c.11856C>G (p.Ala3952=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38543612C>TCA507355174RYR1c.269C>T
c.251C>T
c.11859C>T (p.Ala3953=)
c.11844C>T (p.Ala3948=)
c.11841C>T (p.Ala3947=)
c.468C>T
c.5228C>T
c.11826C>T (p.Ala3942=)
c.11856C>T (p.Ala3952=)
19g.38543613A>CCA405662142RYR1c.270A>C
c.252A>C
c.11860A>C (p.Met3954Leu)
c.11845A>C (p.Met3949Leu)
c.11842A>C (p.Met3948Leu)
c.469A>C
c.5229A>C
c.11827A>C (p.Met3943Leu)
c.11857A>C (p.Met3953Leu)
19g.38543613A>GCA405662143RYR1c.270A>G
c.252A>G
c.11860A>G (p.Met3954Val)
c.11845A>G (p.Met3949Val)
c.11842A>G (p.Met3948Val)
c.469A>G
c.5229A>G
c.11827A>G (p.Met3943Val)
c.11857A>G (p.Met3953Val)
19g.38543613A>TCA405662148RYR1c.270A>T
c.252A>T
c.11860A>T (p.Met3954Leu)
c.11845A>T (p.Met3949Leu)
c.11842A>T (p.Met3948Leu)
c.469A>T
c.5229A>T
c.11827A>T (p.Met3943Leu)
c.11857A>T (p.Met3953Leu)
19g.38543614T>ACA405662155RYR1c.271T>A
c.253T>A
c.11861T>A (p.Met3954Lys)
c.11846T>A (p.Met3949Lys)
c.11843T>A (p.Met3948Lys)
c.470T>A
c.5230T>A
c.11828T>A (p.Met3943Lys)
c.11858T>A (p.Met3953Lys)
19g.38543614T>CCA405662153RYR1c.271T>C
c.253T>C
c.11861T>C (p.Met3954Thr)
c.11846T>C (p.Met3949Thr)
c.11843T>C (p.Met3948Thr)
c.470T>C
c.5230T>C
c.11828T>C (p.Met3943Thr)
c.11858T>C (p.Met3953Thr)
19g.38543614T>GCA405662151RYR1c.271T>G
c.253T>G
c.11861T>G (p.Met3954Arg)
c.11846T>G (p.Met3949Arg)
c.11843T>G (p.Met3948Arg)
c.470T>G
c.5230T>G
c.11828T>G (p.Met3943Arg)
c.11858T>G (p.Met3953Arg)
19g.38543615G>ACA405662158RYR1c.272G>A
c.254G>A
c.11862G>A (p.Met3954Ile)
c.11847G>A (p.Met3949Ile)
c.11844G>A (p.Met3948Ile)
c.471G>A
c.5231G>A
c.11829G>A (p.Met3943Ile)
c.11859G>A (p.Met3953Ile)
19g.38543615G>CCA405662159RYR1c.272G>C
c.254G>C
c.11862G>C (p.Met3954Ile)
c.11847G>C (p.Met3949Ile)
c.11844G>C (p.Met3948Ile)
c.471G>C
c.5231G>C
c.11829G>C (p.Met3943Ile)
c.11859G>C (p.Met3953Ile)
19g.38543615G>TCA405662160RYR1c.272G>T
c.254G>T
c.11862G>T (p.Met3954Ile)
c.11847G>T (p.Met3949Ile)
c.11844G>T (p.Met3948Ile)
c.471G>T
c.5231G>T
c.11829G>T (p.Met3943Ile)
c.11859G>T (p.Met3953Ile)
19g.38543616T>ACA405662161RYR1c.273T>A
c.255T>A
c.11863T>A (p.Ser3955Thr)
c.11848T>A (p.Ser3950Thr)
c.11845T>A (p.Ser3949Thr)
c.472T>A
c.5232T>A
c.11830T>A (p.Ser3944Thr)
c.11860T>A (p.Ser3954Thr)
19g.38543616T>CCA405662162RYR1c.273T>C
c.255T>C
c.11863T>C (p.Ser3955Pro)
c.11848T>C (p.Ser3950Pro)
c.11845T>C (p.Ser3949Pro)
c.472T>C
c.5232T>C
c.11830T>C (p.Ser3944Pro)
c.11860T>C (p.Ser3954Pro)
19g.38543616T>GCA405662163RYR1c.273T>G
c.255T>G
c.11863T>G (p.Ser3955Ala)
c.11848T>G (p.Ser3950Ala)
c.11845T>G (p.Ser3949Ala)
c.472T>G
c.5232T>G
c.11830T>G (p.Ser3944Ala)
c.11860T>G (p.Ser3954Ala)
 gnomAD v4
19g.38543617C>ACA405662165RYR1c.274C>A
c.256C>A
c.11864C>A (p.Ser3955Ter)
c.11849C>A (p.Ser3950Ter)
c.11846C>A (p.Ser3949Ter)
c.473C>A
c.5233C>A
c.11831C>A (p.Ser3944Ter)
c.11861C>A (p.Ser3954Ter)
19g.38543617C=CA2335074433RYR1c.274C=
c.256C=
c.11864C= (p.Ser3955=)
c.11849C= (p.Ser3950=)
c.11846C= (p.Ser3949=)
c.473C=
c.5233C=
c.11831C= (p.Ser3944=)
c.11861C= (p.Ser3954=)
19g.38543617C>GCA057706RYR1c.274C>G
c.256C>G
c.11864C>G (p.Ser3955Trp)
c.11849C>G (p.Ser3950Trp)
c.11846C>G (p.Ser3949Trp)
c.473C>G
c.5233C>G
c.11831C>G (p.Ser3944Trp)
c.11861C>G (p.Ser3954Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543617C>TCA057714RYR1c.274C>T
c.256C>T
c.11864C>T (p.Ser3955Leu)
c.11849C>T (p.Ser3950Leu)
c.11846C>T (p.Ser3949Leu)
c.473C>T
c.5233C>T
c.11831C>T (p.Ser3944Leu)
c.11861C>T (p.Ser3954Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38543618G>ACA507355199RYR1c.275G>A
c.257G>A
c.11865G>A (p.Ser3955=)
c.11850G>A (p.Ser3950=)
c.11847G>A (p.Ser3949=)
c.474G>A
c.5234G>A
c.11832G>A (p.Ser3944=)
c.11862G>A (p.Ser3954=)
 ClinVar gnomAD v4
19g.38543618G>CCA507355201RYR1c.275G>C
c.257G>C
c.11865G>C (p.Ser3955=)
c.11850G>C (p.Ser3950=)
c.11847G>C (p.Ser3949=)
c.474G>C
c.5234G>C
c.11832G>C (p.Ser3944=)
c.11862G>C (p.Ser3954=)
19g.38543618G=CA2335074434RYR1c.275G=
c.257G=
c.11865G= (p.Ser3955=)
c.11850G= (p.Ser3950=)
c.11847G= (p.Ser3949=)
c.474G=
c.5234G=
c.11832G= (p.Ser3944=)
c.11862G= (p.Ser3954=)
19g.38543618G>TCA507355203RYR1c.275G>T
c.257G>T
c.11865G>T (p.Ser3955=)
c.11850G>T (p.Ser3950=)
c.11847G>T (p.Ser3949=)
c.474G>T
c.5234G>T
c.11832G>T (p.Ser3944=)
c.11862G>T (p.Ser3954=)
 dbSNP gnomAD v2 gnomAD v4
19g.38543619G>ACA405662172RYR1c.276G>A
c.258G>A
c.11866G>A (p.Val3956Met)
c.11851G>A (p.Val3951Met)
c.11848G>A (p.Val3950Met)
c.475G>A
c.5235G>A
c.11833G>A (p.Val3945Met)
c.11863G>A (p.Val3955Met)
19g.38543619G>CCA405662174RYR1c.276G>C
c.258G>C
c.11866G>C (p.Val3956Leu)
c.11851G>C (p.Val3951Leu)
c.11848G>C (p.Val3950Leu)
c.475G>C
c.5235G>C
c.11833G>C (p.Val3945Leu)
c.11863G>C (p.Val3955Leu)
19g.38543619G>TCA405662177RYR1c.276G>T
c.258G>T
c.11866G>T (p.Val3956Leu)
c.11851G>T (p.Val3951Leu)
c.11848G>T (p.Val3950Leu)
c.475G>T
c.5235G>T
c.11833G>T (p.Val3945Leu)
c.11863G>T (p.Val3955Leu)
 COSMIC
19g.38543620T>ACA405662188RYR1c.277T>A
c.259T>A
c.11867T>A (p.Val3956Glu)
c.11852T>A (p.Val3951Glu)
c.11849T>A (p.Val3950Glu)
c.476T>A
c.5236T>A
c.11834T>A (p.Val3945Glu)
c.11864T>A (p.Val3955Glu)
19g.38543620T>CCA405662184RYR1c.277T>C
c.259T>C
c.11867T>C (p.Val3956Ala)
c.11852T>C (p.Val3951Ala)
c.11849T>C (p.Val3950Ala)
c.476T>C
c.5236T>C
c.11834T>C (p.Val3945Ala)
c.11864T>C (p.Val3955Ala)
19g.38543620T>GCA405662183RYR1c.277T>G
c.259T>G
c.11867T>G (p.Val3956Gly)
c.11852T>G (p.Val3951Gly)
c.11849T>G (p.Val3950Gly)
c.476T>G
c.5236T>G
c.11834T>G (p.Val3945Gly)
c.11864T>G (p.Val3955Gly)
19g.38543621G>ACA507355214RYR1c.278G>A
c.260G>A
c.11868G>A (p.Val3956=)
c.11853G>A (p.Val3951=)
c.11850G>A (p.Val3950=)
c.477G>A
c.5237G>A
c.11835G>A (p.Val3945=)
c.11865G>A (p.Val3955=)
19g.38543621G>CCA507355216RYR1c.278G>C
c.260G>C
c.11868G>C (p.Val3956=)
c.11853G>C (p.Val3951=)
c.11850G>C (p.Val3950=)
c.477G>C
c.5237G>C
c.11835G>C (p.Val3945=)
c.11865G>C (p.Val3955=)
19g.38543621G>TCA507355219RYR1c.278G>T
c.260G>T
c.11868G>T (p.Val3956=)
c.11853G>T (p.Val3951=)
c.11850G>T (p.Val3950=)
c.477G>T
c.5237G>T
c.11835G>T (p.Val3945=)
c.11865G>T (p.Val3955=)
19g.38543622G>ACA405662193RYR1c.279G>A
c.261G>A
c.11869G>A (p.Ala3957Thr)
c.11854G>A (p.Ala3952Thr)
c.11851G>A (p.Ala3951Thr)
c.478G>A
c.5238G>A
c.11836G>A (p.Ala3946Thr)
c.11866G>A (p.Ala3956Thr)
19g.38543622G>CCA405662197RYR1c.279G>C
c.261G>C
c.11869G>C (p.Ala3957Pro)
c.11854G>C (p.Ala3952Pro)
c.11851G>C (p.Ala3951Pro)
c.478G>C
c.5238G>C
c.11836G>C (p.Ala3946Pro)
c.11866G>C (p.Ala3956Pro)
19g.38543622G>TCA405662200RYR1c.279G>T
c.261G>T
c.11869G>T (p.Ala3957Ser)
c.11854G>T (p.Ala3952Ser)
c.11851G>T (p.Ala3951Ser)
c.478G>T
c.5238G>T
c.11836G>T (p.Ala3946Ser)
c.11866G>T (p.Ala3956Ser)

Number of alleles fetched