Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38485608_38485625dupCA2695228660RYR1c.4953_4970dup (p.Leu1656_Asp1657insGluLeuSerGluArgLeu)
c.4950_4967dup (p.Leu1655_Asp1656insGluLeuSerGluArgLeu)
n.5036_5053dup
19g.38485604T>ACA405652496RYR1c.4949T>A (p.Leu1650Gln)
c.4946T>A (p.Leu1649Gln)
n.5032T>A
19g.38485604T>CCA405652499RYR1c.4949T>C (p.Leu1650Pro)
c.4946T>C (p.Leu1649Pro)
n.5032T>C
 ClinVar
19g.38485604T>GCA405652504RYR1c.4949T>G (p.Leu1650Arg)
c.4946T>G (p.Leu1649Arg)
n.5032T>G
19g.38485605G>ACA066543RYR1c.4950G>A (p.Leu1650=)
c.4947G>A (p.Leu1649=)
n.5033G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485605G>CCA507238229RYR1c.4950G>C (p.Leu1650=)
c.4947G>C (p.Leu1649=)
n.5033G>C
19g.38485605G=CA2335046138RYR1c.4950G= (p.Leu1650=)
c.4947G= (p.Leu1649=)
n.5033G=
19g.38485605G>TCA507238231RYR1c.4950G>T (p.Leu1650=)
c.4947G>T (p.Leu1649=)
n.5033G>T
 gnomAD v4
19g.38485606G>ACA405652511RYR1c.4951G>A (p.Glu1651Lys)
c.4948G>A (p.Glu1650Lys)
n.5034G>A
19g.38485606G>CCA405652513RYR1c.4951G>C (p.Glu1651Gln)
c.4948G>C (p.Glu1650Gln)
n.5034G>C
19g.38485606G>TCA405652515RYR1c.4951G>T (p.Glu1651Ter)
c.4948G>T (p.Glu1650Ter)
n.5034G>T
 gnomAD v4
19g.38485607A>CCA405652518RYR1c.4952A>C (p.Glu1651Ala)
c.4949A>C (p.Glu1650Ala)
n.5035A>C
19g.38485607A>GCA405652519RYR1c.4952A>G (p.Glu1651Gly)
c.4949A>G (p.Glu1650Gly)
n.5035A>G
19g.38485607A>TCA405652525RYR1c.4952A>T (p.Glu1651Val)
c.4949A>T (p.Glu1650Val)
n.5035A>T
19g.38485608G>ACA066544RYR1c.4953G>A (p.Glu1651=)
c.4950G>A (p.Glu1650=)
n.5036G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485608G>CCA405652533RYR1c.4953G>C (p.Glu1651Asp)
c.4950G>C (p.Glu1650Asp)
n.5036G>C
 ClinVar dbSNP
19g.38485608G=CA2335046139RYR1c.4953G= (p.Glu1651=)
c.4950G= (p.Glu1650=)
n.5036G=
19g.38485608G>TCA405652537RYR1c.4953G>T (p.Glu1651Asp)
c.4950G>T (p.Glu1650Asp)
n.5036G>T
 gnomAD v4
19g.38485609C>ACA405652539RYR1c.4954C>A (p.Leu1652Met)
c.4951C>A (p.Leu1651Met)
n.5037C>A
 gnomAD v4
19g.38485609C>GCA405652538RYR1c.4954C>G (p.Leu1652Val)
c.4951C>G (p.Leu1651Val)
n.5037C>G
19g.38485609C>TCA507238249RYR1c.4954C>T (p.Leu1652=)
c.4951C>T (p.Leu1651=)
n.5037C>T
 gnomAD v4
19g.38485612_38485629dupCA995728852RYR1c.4957_4974dup (p.Leu1658_Gln1659insSerGluArgLeuAspLeu)
c.4954_4971dup (p.Leu1657_Gln1658insSerGluArgLeuAspLeu)
n.5040_5057dup
 dbSNP gnomAD v3 gnomAD v4
19g.38485610T>ACA405652541RYR1c.4955T>A (p.Leu1652Gln)
c.4952T>A (p.Leu1651Gln)
n.5038T>A
19g.38485610T>CCA405652547RYR1c.4955T>C (p.Leu1652Pro)
c.4952T>C (p.Leu1651Pro)
n.5038T>C
19g.38485610T>GCA405652544RYR1c.4955T>G (p.Leu1652Arg)
c.4952T>G (p.Leu1651Arg)
n.5038T>G
19g.38485611G>ACA081674RYR1c.4956G>A (p.Leu1652=)
c.4953G>A (p.Leu1651=)
n.5039G>A
 ClinVar gnomAD v4
19g.38485611G>CCA507238257RYR1c.4956G>C (p.Leu1652=)
c.4953G>C (p.Leu1651=)
n.5039G>C
19g.38485611G>TCA507238255RYR1c.4956G>T (p.Leu1652=)
c.4953G>T (p.Leu1651=)
n.5039G>T
 gnomAD v4
19g.38485612T>ACA405652560RYR1c.4957T>A (p.Ser1653Thr)
c.4954T>A (p.Ser1652Thr)
n.5040T>A
 gnomAD v4
19g.38485612T>CCA405652563RYR1c.4957T>C (p.Ser1653Pro)
c.4954T>C (p.Ser1652Pro)
n.5040T>C
 gnomAD v4
19g.38485612T>GCA405652573RYR1c.4957T>G (p.Ser1653Ala)
c.4954T>G (p.Ser1652Ala)
n.5040T>G
19g.38485613C>ACA405652581RYR1c.4958C>A (p.Ser1653Ter)
c.4955C>A (p.Ser1652Ter)
n.5041C>A
 gnomAD v4
19g.38485613C=CA2335046140RYR1c.4958C= (p.Ser1653=)
c.4955C= (p.Ser1652=)
n.5041C=
19g.38485613C>GCA405652585RYR1c.4958C>G (p.Ser1653Trp)
c.4955C>G (p.Ser1652Trp)
n.5041C>G
 dbSNP
19g.38485613C>TCA308092804RYR1c.4958C>T (p.Ser1653Leu)
c.4955C>T (p.Ser1652Leu)
n.5041C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38485614G>ACA066547RYR1c.4959G>A (p.Ser1653=)
c.4956G>A (p.Ser1652=)
n.5042G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38485614G>CCA507238274RYR1c.4959G>C (p.Ser1653=)
c.4956G>C (p.Ser1652=)
n.5042G>C
19g.38485614G=CA2335046141RYR1c.4959G= (p.Ser1653=)
c.4956G= (p.Ser1652=)
n.5042G=
19g.38485614G>TCA507238276RYR1c.4959G>T (p.Ser1653=)
c.4956G>T (p.Ser1652=)
n.5042G>T
 dbSNP gnomAD v4
19g.38485615G>ACA405652606RYR1c.4960G>A (p.Glu1654Lys)
c.4957G>A (p.Glu1653Lys)
n.5043G>A
19g.38485615G>CCA405652613RYR1c.4960G>C (p.Glu1654Gln)
c.4957G>C (p.Glu1653Gln)
n.5043G>C
 gnomAD v4
19g.38485615G>TCA405652617RYR1c.4960G>T (p.Glu1654Ter)
c.4957G>T (p.Glu1653Ter)
n.5043G>T
19g.38485616A>CCA405652620RYR1c.4961A>C (p.Glu1654Ala)
c.4958A>C (p.Glu1653Ala)
n.5044A>C
19g.38485616A>GCA405652624RYR1c.4961A>G (p.Glu1654Gly)
c.4958A>G (p.Glu1653Gly)
n.5044A>G
19g.38485616A>TCA405652629RYR1c.4961A>T (p.Glu1654Val)
c.4958A>T (p.Glu1653Val)
n.5044A>T
19g.38485617G>ACA081675RYR1c.4962G>A (p.Glu1654=)
c.4959G>A (p.Glu1653=)
n.5045G>A
19g.38485617G>CCA405652641RYR1c.4962G>C (p.Glu1654Asp)
c.4959G>C (p.Glu1653Asp)
n.5045G>C
19g.38485617G>TCA081663RYR1c.4962G>T (p.Glu1654Asp)
c.4959G>T (p.Glu1653Asp)
n.5045G>T
 gnomAD v4
19g.38485618C>ACA405652648RYR1c.4963C>A (p.Arg1655Ser)
c.4960C>A (p.Arg1654Ser)
n.5046C>A
 ClinVar
19g.38485618C=CA2335046142RYR1c.4963C= (p.Arg1655=)
c.4960C= (p.Arg1654=)
n.5046C=
19g.38485618C>GCA405652651RYR1c.4963C>G (p.Arg1655Gly)
c.4960C>G (p.Arg1654Gly)
n.5046C>G
 gnomAD v4
19g.38485618C>TCA066551RYR1c.4963C>T (p.Arg1655Cys)
c.4960C>T (p.Arg1654Cys)
n.5046C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485619G>ACA066554RYR1c.4964G>A (p.Arg1655His)
c.4961G>A (p.Arg1654His)
n.5047G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38485619G>CCA405652657RYR1c.4964G>C (p.Arg1655Pro)
c.4961G>C (p.Arg1654Pro)
n.5047G>C
19g.38485619G=CA2335046143RYR1c.4964G= (p.Arg1655=)
c.4961G= (p.Arg1654=)
n.5047G=
19g.38485619G>TCA405652662RYR1c.4964G>T (p.Arg1655Leu)
c.4961G>T (p.Arg1654Leu)
n.5047G>T
 ClinVar dbSNP gnomAD v4
19g.38485620C>ACA507238300RYR1c.4965C>A (p.Arg1655=)
c.4962C>A (p.Arg1654=)
n.5048C>A
19g.38485620C>GCA507238302RYR1c.4965C>G (p.Arg1655=)
c.4962C>G (p.Arg1654=)
n.5048C>G
19g.38485620C>TCA507238304RYR1c.4965C>T (p.Arg1655=)
c.4962C>T (p.Arg1654=)
n.5048C>T
 gnomAD v4
19g.38485621C>ACA405652670RYR1c.4966C>A (p.Leu1656Met)
c.4963C>A (p.Leu1655Met)
n.5049C>A
 gnomAD v4
19g.38485621C=CA2335046144RYR1c.4966C= (p.Leu1656=)
c.4963C= (p.Leu1655=)
n.5049C=
19g.38485621C>GCA405652668RYR1c.4966C>G (p.Leu1656Val)
c.4963C>G (p.Leu1655Val)
n.5049C>G
19g.38485621C>TCA081676RYR1c.4966C>T (p.Leu1656=)
c.4963C>T (p.Leu1655=)
n.5049C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38485622T>ACA405652671RYR1c.4967T>A (p.Leu1656Gln)
c.4964T>A (p.Leu1655Gln)
n.5050T>A
 gnomAD v4
19g.38485622T>CCA405652673RYR1c.4967T>C (p.Leu1656Pro)
c.4964T>C (p.Leu1655Pro)
n.5050T>C
 gnomAD v4
19g.38485622T>GCA405652676RYR1c.4967T>G (p.Leu1656Arg)
c.4964T>G (p.Leu1655Arg)
n.5050T>G
19g.38485623G>ACA507238315RYR1c.4968G>A (p.Leu1656=)
c.4965G>A (p.Leu1655=)
n.5051G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38485623G>CCA507238317RYR1c.4968G>C (p.Leu1656=)
c.4965G>C (p.Leu1655=)
n.5051G>C
19g.38485623G=CA2335046145RYR1c.4968G= (p.Leu1656=)
c.4965G= (p.Leu1655=)
n.5051G=
19g.38485623G>TCA507238319RYR1c.4968G>T (p.Leu1656=)
c.4965G>T (p.Leu1655=)
n.5051G>T
 gnomAD v4
19g.38485624G>ACA405652679RYR1c.4969G>A (p.Asp1657Asn)
c.4966G>A (p.Asp1656Asn)
n.5052G>A
19g.38485624G>CCA405652689RYR1c.4969G>C (p.Asp1657His)
c.4966G>C (p.Asp1656His)
n.5052G>C
 dbSNP
19g.38485624G>TCA405652704RYR1c.4969G>T (p.Asp1657Tyr)
c.4966G>T (p.Asp1656Tyr)
n.5052G>T
 dbSNP gnomAD v4
19g.38485625A=CA2335046146RYR1c.4970A= (p.Asp1657=)
c.4967A= (p.Asp1656=)
n.5053A=
19g.38485625A>CCA066555RYR1c.4970A>C (p.Asp1657Ala)
c.4967A>C (p.Asp1656Ala)
n.5053A>C
 dbSNP ExAC
19g.38485625A>GCA405652711RYR1c.4970A>G (p.Asp1657Gly)
c.4967A>G (p.Asp1656Gly)
n.5053A>G
 gnomAD v4
19g.38485625A>TCA405652709RYR1c.4970A>T (p.Asp1657Val)
c.4967A>T (p.Asp1656Val)
n.5053A>T
19g.38485626C>ACA405652718RYR1c.4971C>A (p.Asp1657Glu)
c.4968C>A (p.Asp1656Glu)
n.5054C>A
19g.38485626C=CA2335046147RYR1c.4971C= (p.Asp1657=)
c.4968C= (p.Asp1656=)
n.5054C=
19g.38485626C>GCA405652721RYR1c.4971C>G (p.Asp1657Glu)
c.4968C>G (p.Asp1656Glu)
n.5054C>G
 gnomAD v4
19g.38485626C>TCA066559RYR1c.4971C>T (p.Asp1657=)
c.4968C>T (p.Asp1656=)
n.5054C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485627C>ACA405652727RYR1c.4972C>A (p.Leu1658Met)
c.4969C>A (p.Leu1657Met)
n.5055C>A
19g.38485627C=CA2335046148RYR1c.4972C= (p.Leu1658=)
c.4969C= (p.Leu1657=)
n.5055C=
19g.38485627C>GCA405652730RYR1c.4972C>G (p.Leu1658Val)
c.4969C>G (p.Leu1657Val)
n.5055C>G
19g.38485627C>TCA066562RYR1c.4972C>T (p.Leu1658=)
c.4969C>T (p.Leu1657=)
n.5055C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485627_38485634delinsCTGCAGCGCA2335046149RYR1c.4972_4979delinsCTGCAGCG (p.Leu1658=)
c.4969_4976delinsCTGCAGCG (p.Leu1657=)
n.5055_5062delinsCTGCAGCG
19g.38485628T>ACA405652747RYR1c.4973T>A (p.Leu1658Gln)
c.4970T>A (p.Leu1657Gln)
n.5056T>A
19g.38485628T>CCA405652750RYR1c.4973T>C (p.Leu1658Pro)
c.4970T>C (p.Leu1657Pro)
n.5056T>C
19g.38485628T>GCA405652755RYR1c.4973T>G (p.Leu1658Arg)
c.4970T>G (p.Leu1657Arg)
n.5056T>G
19g.38485628_38485634delCA507238353RYR1c.4973_4979del (p.Leu1658ProfsTer29)
c.4970_4976del (p.Leu1657ProfsTer29)
n.5056_5062del
 dbSNP
19g.38485629G>ACA507238354RYR1c.4974G>A (p.Leu1658=)
c.4971G>A (p.Leu1657=)
n.5057G>A
 gnomAD v4
19g.38485629G>CCA507238356RYR1c.4974G>C (p.Leu1658=)
c.4971G>C (p.Leu1657=)
n.5057G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38485629G=CA2335046150RYR1c.4974G= (p.Leu1658=)
c.4971G= (p.Leu1657=)
n.5057G=
19g.38485629G>TCA507238361RYR1c.4974G>T (p.Leu1658=)
c.4971G>T (p.Leu1657=)
n.5057G>T
 gnomAD v4
19g.38485629_38485635delCA405652761RYR1c.4974_4980del (p.Gln1659SerfsTer28)
c.4971_4977del (p.Gln1658SerfsTer28)
n.5057_5063del
19g.38485630C>ACA405652764RYR1c.4975C>A (p.Gln1659Lys)
c.4972C>A (p.Gln1658Lys)
n.5058C>A
 gnomAD v4
19g.38485630C>GCA405652768RYR1c.4975C>G (p.Gln1659Glu)
c.4972C>G (p.Gln1658Glu)
n.5058C>G
19g.38485630C>TCA081680RYR1c.4975C>T (p.Gln1659Ter)
c.4972C>T (p.Gln1658Ter)
n.5058C>T
 gnomAD v4
19g.38485631A=CA2335046151RYR1c.4976A= (p.Gln1659=)
c.4973A= (p.Gln1658=)
n.5059A=
19g.38485631A>CCA405652773RYR1c.4976A>C (p.Gln1659Pro)
c.4973A>C (p.Gln1658Pro)
n.5059A>C
19g.38485631A>GCA066565RYR1c.4976A>G (p.Gln1659Arg)
c.4973A>G (p.Gln1658Arg)
n.5059A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485631A>TCA405652771RYR1c.4976A>T (p.Gln1659Leu)
c.4973A>T (p.Gln1658Leu)
n.5059A>T
19g.38485632G>ACA507238382RYR1c.4977G>A (p.Gln1659=)
c.4974G>A (p.Gln1658=)
n.5060G>A
 gnomAD v4 COSMIC
19g.38485632G>CCA405652777RYR1c.4977G>C (p.Gln1659His)
c.4974G>C (p.Gln1658His)
n.5060G>C
19g.38485632G>TCA405652786RYR1c.4977G>T (p.Gln1659His)
c.4974G>T (p.Gln1658His)
n.5060G>T
 gnomAD v4
19g.38485633C>ACA405652788RYR1c.4978C>A (p.Arg1660Ser)
c.4975C>A (p.Arg1659Ser)
n.5061C>A
 gnomAD v4 COSMIC
19g.38485633C=CA2335046152RYR1c.4978C= (p.Arg1660=)
c.4975C= (p.Arg1659=)
n.5061C=
19g.38485633C>GCA405652791RYR1c.4978C>G (p.Arg1660Gly)
c.4975C>G (p.Arg1659Gly)
n.5061C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38485633C>TCA405652794RYR1c.4978C>T (p.Arg1660Cys)
c.4975C>T (p.Arg1659Cys)
n.5061C>T
 gnomAD v4
19g.38485634G>ACA066568RYR1c.4979G>A (p.Arg1660His)
c.4976G>A (p.Arg1659His)
n.5062G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485634G>CCA066571RYR1c.4979G>C (p.Arg1660Pro)
c.4976G>C (p.Arg1659Pro)
n.5062G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485634G=CA2335046153RYR1c.4979G= (p.Arg1660=)
c.4976G= (p.Arg1659=)
n.5062G=
19g.38485634G>TCA405652796RYR1c.4979G>T (p.Arg1660Leu)
c.4976G>T (p.Arg1659Leu)
n.5062G>T
 gnomAD v4 COSMIC
19g.38485635C>ACA507238397RYR1c.4980C>A (p.Arg1660=)
c.4977C>A (p.Arg1659=)
n.5063C>A
19g.38485635C=CA2335046154RYR1c.4980C= (p.Arg1660=)
c.4977C= (p.Arg1659=)
n.5063C=
19g.38485635C>GCA507238399RYR1c.4980C>G (p.Arg1660=)
c.4977C>G (p.Arg1659=)
n.5063C>G
19g.38485635C>TCA066575RYR1c.4980C>T (p.Arg1660=)
c.4977C>T (p.Arg1659=)
n.5063C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485636T>ACA405652797RYR1c.4981T>A (p.Phe1661Ile)
c.4978T>A (p.Phe1660Ile)
n.5064T>A
19g.38485636T>CCA405652799RYR1c.4981T>C (p.Phe1661Leu)
c.4978T>C (p.Phe1660Leu)
n.5064T>C
 dbSNP gnomAD v2 gnomAD v4
19g.38485636T>GCA405652809RYR1c.4981T>G (p.Phe1661Val)
c.4978T>G (p.Phe1660Val)
n.5064T>G
19g.38485636T=CA2335046155RYR1c.4981T= (p.Phe1661=)
c.4978T= (p.Phe1660=)
n.5064T=
19g.38485637T>ACA405652812RYR1c.4982T>A (p.Phe1661Tyr)
c.4979T>A (p.Phe1660Tyr)
n.5065T>A
19g.38485637T>CCA405652818RYR1c.4982T>C (p.Phe1661Ser)
c.4979T>C (p.Phe1660Ser)
n.5065T>C
19g.38485637T>GCA405652815RYR1c.4982T>G (p.Phe1661Cys)
c.4979T>G (p.Phe1660Cys)
n.5065T>G
19g.38485638C>ACA405652822RYR1c.4983C>A (p.Phe1661Leu)
c.4980C>A (p.Phe1660Leu)
n.5066C>A
19g.38485638C=CA2335046156RYR1c.4983C= (p.Phe1661=)
c.4980C= (p.Phe1660=)
n.5066C=
19g.38485638C>GCA405652827RYR1c.4983C>G (p.Phe1661Leu)
c.4980C>G (p.Phe1660Leu)
n.5066C>G
19g.38485638C>TCA066577RYR1c.4983C>T (p.Phe1661=)
c.4980C>T (p.Phe1660=)
n.5066C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485639C>ACA405652834RYR1c.4984C>A (p.His1662Asn)
c.4981C>A (p.His1661Asn)
n.5067C>A
19g.38485639C>GCA405652838RYR1c.4984C>G (p.His1662Asp)
c.4981C>G (p.His1661Asp)
n.5067C>G
19g.38485639C>TCA405652839RYR1c.4984C>T (p.His1662Tyr)
c.4981C>T (p.His1661Tyr)
n.5067C>T
19g.38485640A=CA2335046157RYR1c.4985A= (p.His1662=)
c.4982A= (p.His1661=)
n.5068A=
19g.38485640A>CCA405652843RYR1c.4985A>C (p.His1662Pro)
c.4982A>C (p.His1661Pro)
n.5068A>C
19g.38485640A>GCA405652847RYR1c.4985A>G (p.His1662Arg)
c.4982A>G (p.His1661Arg)
n.5068A>G
 ClinVar dbSNP
19g.38485640A>TCA405652849RYR1c.4985A>T (p.His1662Leu)
c.4982A>T (p.His1661Leu)
n.5068A>T
19g.38485641C>ACA405652851RYR1c.4986C>A (p.His1662Gln)
c.4983C>A (p.His1661Gln)
n.5069C>A
19g.38485641C=CA2335046158RYR1c.4986C= (p.His1662=)
c.4983C= (p.His1661=)
n.5069C=
19g.38485641C>GCA405652855RYR1c.4986C>G (p.His1662Gln)
c.4983C>G (p.His1661Gln)
n.5069C>G
19g.38485641C>TCA081664RYR1c.4986C>T (p.His1662=)
c.4983C>T (p.His1661=)
n.5069C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38485642T>ACA405652858RYR1c.4987T>A (p.Ser1663Thr)
c.4984T>A (p.Ser1662Thr)
n.5070T>A
19g.38485642T>CCA405652861RYR1c.4987T>C (p.Ser1663Pro)
c.4984T>C (p.Ser1662Pro)
n.5070T>C
19g.38485642T>GCA405652864RYR1c.4987T>G (p.Ser1663Ala)
c.4984T>G (p.Ser1662Ala)
n.5070T>G
 dbSNP
19g.38485642T=CA2335046159RYR1c.4987T= (p.Ser1663=)
c.4984T= (p.Ser1662=)
n.5070T=
19g.38485643C>ACA405652880RYR1c.4988C>A (p.Ser1663Ter)
c.4985C>A (p.Ser1662Ter)
n.5071C>A
 gnomAD v4
19g.38485643C=CA2335046160RYR1c.4988C= (p.Ser1663=)
c.4985C= (p.Ser1662=)
n.5071C=
19g.38485643C>GCA405652874RYR1c.4988C>G (p.Ser1663Trp)
c.4985C>G (p.Ser1662Trp)
n.5071C>G
 ClinVar dbSNP gnomAD v4
19g.38485643C>TCA405652870RYR1c.4988C>T (p.Ser1663Leu)
c.4985C>T (p.Ser1662Leu)
n.5071C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38485644G>ACA308092900RYR1c.4989G>A (p.Ser1663=)
c.4986G>A (p.Ser1662=)
n.5072G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38485644G>CCA507238440RYR1c.4989G>C (p.Ser1663=)
c.4986G>C (p.Ser1662=)
n.5072G>C
19g.38485644G=CA2335046161RYR1c.4989G= (p.Ser1663=)
c.4986G= (p.Ser1662=)
n.5072G=
19g.38485644G>TCA507238437RYR1c.4989G>T (p.Ser1663=)
c.4986G>T (p.Ser1662=)
n.5072G>T
 dbSNP gnomAD v4
19g.38485645C>ACA405652888RYR1c.4990C>A (p.His1664Asn)
c.4987C>A (p.His1663Asn)
n.5073C>A
19g.38485645C=CA2335046162RYR1c.4990C= (p.His1664=)
c.4987C= (p.His1663=)
n.5073C=
19g.38485645C>GCA405652889RYR1c.4990C>G (p.His1664Asp)
c.4987C>G (p.His1663Asp)
n.5073C>G
19g.38485645C>TCA405652890RYR1c.4990C>T (p.His1664Tyr)
c.4987C>T (p.His1663Tyr)
n.5073C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38485646A=CA2335046163RYR1c.4991A= (p.His1664=)
c.4988A= (p.His1663=)
n.5074A=
19g.38485646A>CCA405652891RYR1c.4991A>C (p.His1664Pro)
c.4988A>C (p.His1663Pro)
n.5074A>C
19g.38485646A>GCA405652892RYR1c.4991A>G (p.His1664Arg)
c.4988A>G (p.His1663Arg)
n.5074A>G
19g.38485646A>TCA066579RYR1c.4991A>T (p.His1664Leu)
c.4988A>T (p.His1663Leu)
n.5074A>T
 dbSNP ExAC gnomAD v2
19g.38485647C>ACA405652895RYR1c.4992C>A (p.His1664Gln)
c.4989C>A (p.His1663Gln)
n.5075C>A
19g.38485647C>GCA405652896RYR1c.4992C>G (p.His1664Gln)
c.4989C>G (p.His1663Gln)
n.5075C>G
 gnomAD v4
19g.38485647C>TCA507238450RYR1c.4992C>T (p.His1664=)
c.4989C>T (p.His1663=)
n.5075C>T
19g.38485648A=CA2335046164RYR1c.4993A= (p.Thr1665=)
c.4990A= (p.Thr1664=)
n.5076A=
19g.38485648A>CCA405652899RYR1c.4993A>C (p.Thr1665Pro)
c.4990A>C (p.Thr1664Pro)
n.5076A>C
 dbSNP
19g.38485648A>GCA405652902RYR1c.4993A>G (p.Thr1665Ala)
c.4990A>G (p.Thr1664Ala)
n.5076A>G
19g.38485648A>TCA405652906RYR1c.4993A>T (p.Thr1665Ser)
c.4990A>T (p.Thr1664Ser)
n.5076A>T
19g.38485649C>ACA405652916RYR1c.4994C>A (p.Thr1665Asn)
c.4991C>A (p.Thr1664Asn)
n.5077C>A
 gnomAD v4
19g.38485649C=CA2335046165RYR1c.4994C= (p.Thr1665=)
c.4991C= (p.Thr1664=)
n.5077C=
19g.38485649C>GCA405652914RYR1c.4994C>G (p.Thr1665Ser)
c.4991C>G (p.Thr1664Ser)
n.5077C>G
19g.38485649C>TCA405652910RYR1c.4994C>T (p.Thr1665Ile)
c.4991C>T (p.Thr1664Ile)
n.5077C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38485650C>ACA507238452RYR1c.4995C>A (p.Thr1665=)
c.4992C>A (p.Thr1664=)
n.5078C>A
 gnomAD v4
19g.38485650C>GCA507238454RYR1c.4995C>G (p.Thr1665=)
c.4992C>G (p.Thr1664=)
n.5078C>G
 ClinVar gnomAD v4 COSMIC
19g.38485650C>TCA507238453RYR1c.4995C>T (p.Thr1665=)
c.4992C>T (p.Thr1664=)
n.5078C>T
 gnomAD v4
19g.38485651C>ACA405652918RYR1c.4996C>A (p.Leu1666Met)
c.4993C>A (p.Leu1665Met)
n.5079C>A
 dbSNP gnomAD v2
19g.38485651C=CA2335046166RYR1c.4996C= (p.Leu1666=)
c.4993C= (p.Leu1665=)
n.5079C=
19g.38485651C>GCA405652920RYR1c.4996C>G (p.Leu1666Val)
c.4993C>G (p.Leu1665Val)
n.5079C>G
 gnomAD v4
19g.38485651C>TCA507238458RYR1c.4996C>T (p.Leu1666=)
c.4993C>T (p.Leu1665=)
n.5079C>T
 ClinVar gnomAD v4
19g.38485652T>ACA405652922RYR1c.4997T>A (p.Leu1666Gln)
c.4994T>A (p.Leu1665Gln)
n.5080T>A
19g.38485652T>CCA405652924RYR1c.4997T>C (p.Leu1666Pro)
c.4994T>C (p.Leu1665Pro)
n.5080T>C
 gnomAD v4
19g.38485652T>GCA405652925RYR1c.4997T>G (p.Leu1666Arg)
c.4994T>G (p.Leu1665Arg)
n.5080T>G
19g.38485653G>ACA507238461RYR1c.4998G>A (p.Leu1666=)
c.4995G>A (p.Leu1665=)
n.5081G>A
 dbSNP gnomAD v4
19g.38485653G>CCA507238462RYR1c.4998G>C (p.Leu1666=)
c.4995G>C (p.Leu1665=)
n.5081G>C
19g.38485653G=CA2335046167RYR1c.4998G= (p.Leu1666=)
c.4995G= (p.Leu1665=)
n.5081G=
19g.38485653G>TCA507238464RYR1c.4998G>T (p.Leu1666=)
c.4995G>T (p.Leu1665=)
n.5081G>T
19g.38485654C>ACA405652929RYR1c.4999C>A (p.Arg1667Ser)
c.4996C>A (p.Arg1666Ser)
n.5082C>A
 dbSNP gnomAD v2 gnomAD v4
19g.38485654C=CA2335046168RYR1c.4999C= (p.Arg1667=)
c.4996C= (p.Arg1666=)
n.5082C=
19g.38485654C>GCA405652932RYR1c.4999C>G (p.Arg1667Gly)
c.4996C>G (p.Arg1666Gly)
n.5082C>G
19g.38485654C>TCA212170RYR1c.4999C>T (p.Arg1667Cys)
c.4996C>T (p.Arg1666Cys)
n.5082C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485654_38485681delinsCGCCTCTACCGCGCTGTGTGCGCCCTGGCA2335046169RYR1c.4999_5026delinsCGCCTCTACCGCGCTGTGTGCGCCCTGG (p.Arg1667=)
c.4996_5023delinsCGCCTCTACCGCGCTGTGTGCGCCCTGG (p.Arg1666=)
n.5082_5109delinsCGCCTCTACCGCGCTGTGTGCGCCCTGG
19g.38485655G>ACA066587RYR1c.5000G>A (p.Arg1667His)
c.4997G>A (p.Arg1666His)
n.5083G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485655G>CCA405652938RYR1c.5000G>C (p.Arg1667Pro)
c.4997G>C (p.Arg1666Pro)
n.5083G>C
 dbSNP gnomAD v2 gnomAD v4
19g.38485655G=CA2335046170RYR1c.5000G= (p.Arg1667=)
c.4997G= (p.Arg1666=)
n.5083G=
19g.38485655G>TCA405652941RYR1c.5000G>T (p.Arg1667Leu)
c.4997G>T (p.Arg1666Leu)
n.5083G>T
 gnomAD v4
19g.38485657_38485683delCA9415806RYR1c.5002_5028del (p.Leu1668_Gly1676del)
c.4999_5025del (p.Leu1667_Gly1675del)
n.5085_5111del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485656C>ACA507238471RYR1c.5001C>A (p.Arg1667=)
c.4998C>A (p.Arg1666=)
n.5084C>A
 dbSNP
19g.38485656C>GCA507238474RYR1c.5001C>G (p.Arg1667=)
c.4998C>G (p.Arg1666=)
n.5084C>G
19g.38485656C>TCA507238476RYR1c.5001C>T (p.Arg1667=)
c.4998C>T (p.Arg1666=)
n.5084C>T
19g.38485657C>ACA405652963RYR1c.5002C>A (p.Leu1668Ile)
c.4999C>A (p.Leu1667Ile)
n.5085C>A
19g.38485657C=CA2335046171RYR1c.5002C= (p.Leu1668=)
c.4999C= (p.Leu1667=)
n.5085C=
19g.38485657C>GCA405652950RYR1c.5002C>G (p.Leu1668Val)
c.4999C>G (p.Leu1667Val)
n.5085C>G
 gnomAD v4
19g.38485657C>TCA405652946RYR1c.5002C>T (p.Leu1668Phe)
c.4999C>T (p.Leu1667Phe)
n.5085C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38485658T>ACA405652966RYR1c.5003T>A (p.Leu1668His)
c.5000T>A (p.Leu1667His)
n.5086T>A
19g.38485658T>CCA405652977RYR1c.5003T>C (p.Leu1668Pro)
c.5000T>C (p.Leu1667Pro)
n.5086T>C
19g.38485658T>GCA405652981RYR1c.5003T>G (p.Leu1668Arg)
c.5000T>G (p.Leu1667Arg)
n.5086T>G
19g.38485658_38485684delCA081685RYR1c.5003_5029del (p.Leu1668_Asn1677delinsHis)
c.5000_5026del (p.Leu1667_Asn1676delinsHis)
n.5086_5112del
19g.38485659C>ACA507238479RYR1c.5004C>A (p.Leu1668=)
c.5001C>A (p.Leu1667=)
n.5087C>A
 gnomAD v4
19g.38485659C>GCA507238480RYR1c.5004C>G (p.Leu1668=)
c.5001C>G (p.Leu1667=)
n.5087C>G
19g.38485659C>TCA507238481RYR1c.5004C>T (p.Leu1668=)
c.5001C>T (p.Leu1667=)
n.5087C>T
 gnomAD v4
19g.38485660T>ACA405652989RYR1c.5005T>A (p.Tyr1669Asn)
c.5002T>A (p.Tyr1668Asn)
n.5088T>A
19g.38485660T>CCA405652993RYR1c.5005T>C (p.Tyr1669His)
c.5002T>C (p.Tyr1668His)
n.5088T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38485660T>GCA405653006RYR1c.5005T>G (p.Tyr1669Asp)
c.5002T>G (p.Tyr1668Asp)
n.5088T>G
19g.38485660T=CA2335046172RYR1c.5005T= (p.Tyr1669=)
c.5002T= (p.Tyr1668=)
n.5088T=
19g.38485661A>CCA405653008RYR1c.5006A>C (p.Tyr1669Ser)
c.5003A>C (p.Tyr1668Ser)
n.5089A>C
19g.38485661A>GCA405653012RYR1c.5006A>G (p.Tyr1669Cys)
c.5003A>G (p.Tyr1668Cys)
n.5089A>G
 gnomAD v4
19g.38485661A>TCA405653014RYR1c.5006A>T (p.Tyr1669Phe)
c.5003A>T (p.Tyr1668Phe)
n.5089A>T
19g.38485662C>ACA405653017RYR1c.5007C>A (p.Tyr1669Ter)
c.5004C>A (p.Tyr1668Ter)
n.5090C>A
19g.38485662C=CA2335046173RYR1c.5007C= (p.Tyr1669=)
c.5004C= (p.Tyr1668=)
n.5090C=
19g.38485662C>GCA405653020RYR1c.5007C>G (p.Tyr1669Ter)
c.5004C>G (p.Tyr1668Ter)
n.5090C>G
19g.38485662C>TCA066590RYR1c.5007C>T (p.Tyr1669=)
c.5004C>T (p.Tyr1668=)
n.5090C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485662_38485663delinsAACA645615239RYR1c.5007_5008delinsAA (p.Tyr1669Ter)
c.5004_5005delinsAA (p.Tyr1668Ter)
n.5090_5091delinsAA
 COSMIC
19g.38485663C>ACA405653027RYR1c.5008C>A (p.Arg1670Ser)
c.5005C>A (p.Arg1669Ser)
n.5091C>A
19g.38485663C=CA2335046174RYR1c.5008C= (p.Arg1670=)
c.5005C= (p.Arg1669=)
n.5091C=
19g.38485663C>GCA405653033RYR1c.5008C>G (p.Arg1670Gly)
c.5005C>G (p.Arg1669Gly)
n.5091C>G
19g.38485663C>TCA405653030RYR1c.5008C>T (p.Arg1670Cys)
c.5005C>T (p.Arg1669Cys)
n.5091C>T
 ClinVar dbSNP gnomAD v4 COSMIC
19g.38485664G>ACA405653037RYR1c.5009G>A (p.Arg1670His)
c.5006G>A (p.Arg1669His)
n.5092G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38485664G>CCA405653044RYR1c.5009G>C (p.Arg1670Pro)
c.5006G>C (p.Arg1669Pro)
n.5092G>C
19g.38485664G=CA2335046175RYR1c.5009G= (p.Arg1670=)
c.5006G= (p.Arg1669=)
n.5092G=
19g.38485664G>TCA405653039RYR1c.5009G>T (p.Arg1670Leu)
c.5006G>T (p.Arg1669Leu)
n.5092G>T
 gnomAD v4
19g.38485665C>ACA507238499RYR1c.5010C>A (p.Arg1670=)
c.5007C>A (p.Arg1669=)
n.5093C>A
19g.38485665C=CA2335046176RYR1c.5010C= (p.Arg1670=)
c.5007C= (p.Arg1669=)
n.5093C=
19g.38485665C>GCA066593RYR1c.5010C>G (p.Arg1670=)
c.5007C>G (p.Arg1669=)
n.5093C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485665C>TCA066597RYR1c.5010C>T (p.Arg1670=)
c.5007C>T (p.Arg1669=)
n.5093C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485666G>ACA405653049RYR1c.5011G>A (p.Ala1671Thr)
c.5008G>A (p.Ala1670Thr)
n.5094G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38485666G>CCA405653055RYR1c.5011G>C (p.Ala1671Pro)
c.5008G>C (p.Ala1670Pro)
n.5094G>C
19g.38485666G=CA2335046177RYR1c.5011G= (p.Ala1671=)
c.5008G= (p.Ala1670=)
n.5094G=
19g.38485666G>TCA405653051RYR1c.5011G>T (p.Ala1671Ser)
c.5008G>T (p.Ala1670Ser)
n.5094G>T
 ClinVar gnomAD v4
19g.38485667C>ACA405653058RYR1c.5012C>A (p.Ala1671Asp)
c.5009C>A (p.Ala1670Asp)
n.5095C>A
 gnomAD v4
19g.38485667C=CA2335046178RYR1c.5012C= (p.Ala1671=)
c.5009C= (p.Ala1670=)
n.5095C=
19g.38485667C>GCA405653067RYR1c.5012C>G (p.Ala1671Gly)
c.5009C>G (p.Ala1670Gly)
n.5095C>G
19g.38485667C>TCA405653069RYR1c.5012C>T (p.Ala1671Val)
c.5009C>T (p.Ala1670Val)
n.5095C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38485668T>ACA507238506RYR1c.5013T>A (p.Ala1671=)
c.5010T>A (p.Ala1670=)
n.5096T>A
19g.38485668T>CCA507238505RYR1c.5013T>C (p.Ala1671=)
c.5010T>C (p.Ala1670=)
n.5096T>C
19g.38485668T>GCA507238504RYR1c.5013T>G (p.Ala1671=)
c.5010T>G (p.Ala1670=)
n.5096T>G
19g.38485669G>ACA405653075RYR1c.5014G>A (p.Val1672Met)
c.5011G>A (p.Val1671Met)
n.5097G>A
19g.38485669G>CCA405653077RYR1c.5014G>C (p.Val1672Leu)
c.5011G>C (p.Val1671Leu)
n.5097G>C
 gnomAD v4
19g.38485669G>TCA405653080RYR1c.5014G>T (p.Val1672Leu)
c.5011G>T (p.Val1671Leu)
n.5097G>T
 gnomAD v4
19g.38485670T>ACA405653082RYR1c.5015T>A (p.Val1672Glu)
c.5012T>A (p.Val1671Glu)
n.5098T>A
 ClinVar
19g.38485670T>CCA405653086RYR1c.5015T>C (p.Val1672Ala)
c.5012T>C (p.Val1671Ala)
n.5098T>C
 dbSNP gnomAD v2
19g.38485670T>GCA405653087RYR1c.5015T>G (p.Val1672Gly)
c.5012T>G (p.Val1671Gly)
n.5098T>G
19g.38485670T=CA2335046179RYR1c.5015T= (p.Val1672=)
c.5012T= (p.Val1671=)
n.5098T=
19g.38485671G>ACA507238515RYR1c.5016G>A (p.Val1672=)
c.5013G>A (p.Val1671=)
n.5099G>A
19g.38485671G>CCA507238516RYR1c.5016G>C (p.Val1672=)
c.5013G>C (p.Val1671=)
n.5099G>C
19g.38485671G>TCA507238517RYR1c.5016G>T (p.Val1672=)
c.5013G>T (p.Val1671=)
n.5099G>T
19g.38485672T>ACA405653091RYR1c.5017T>A (p.Cys1673Ser)
c.5014T>A (p.Cys1672Ser)
n.5100T>A
19g.38485672T>CCA405653093RYR1c.5017T>C (p.Cys1673Arg)
c.5014T>C (p.Cys1672Arg)
n.5100T>C
 ClinVar dbSNP gnomAD v4
19g.38485672T>GCA405653094RYR1c.5017T>G (p.Cys1673Gly)
c.5014T>G (p.Cys1672Gly)
n.5100T>G
 ClinVar gnomAD v4
19g.38485672T=CA2335046180RYR1c.5017T= (p.Cys1673=)
c.5014T= (p.Cys1672=)
n.5100T=
19g.38485673G>ACA405653107RYR1c.5018G>A (p.Cys1673Tyr)
c.5015G>A (p.Cys1672Tyr)
n.5101G>A
19g.38485673G>CCA405653112RYR1c.5018G>C (p.Cys1673Ser)
c.5015G>C (p.Cys1672Ser)
n.5101G>C
19g.38485673G>TCA405653109RYR1c.5018G>T (p.Cys1673Phe)
c.5015G>T (p.Cys1672Phe)
n.5101G>T
19g.38485674C>ACA405653117RYR1c.5019C>A (p.Cys1673Ter)
c.5016C>A (p.Cys1672Ter)
n.5102C>A
19g.38485674C=CA2335046181RYR1c.5019C= (p.Cys1673=)
c.5016C= (p.Cys1672=)
n.5102C=
19g.38485674C>GCA405653121RYR1c.5019C>G (p.Cys1673Trp)
c.5016C>G (p.Cys1672Trp)
n.5102C>G
19g.38485674C>TCA066602RYR1c.5019C>T (p.Cys1673=)
c.5016C>T (p.Cys1672=)
n.5102C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38485675G>ACA405653136RYR1c.5020G>A (p.Ala1674Thr)
c.5017G>A (p.Ala1673Thr)
n.5103G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38485675G>CCA405653138RYR1c.5020G>C (p.Ala1674Pro)
c.5017G>C (p.Ala1673Pro)
n.5103G>C
19g.38485675G=CA2335046182RYR1c.5020G= (p.Ala1674=)
c.5017G= (p.Ala1673=)
n.5103G=
19g.38485675G>TCA405653142RYR1c.5020G>T (p.Ala1674Ser)
c.5017G>T (p.Ala1673Ser)
n.5103G>T
 gnomAD v4
19g.38485676C>ACA405653143RYR1c.5021C>A (p.Ala1674Asp)
c.5018C>A (p.Ala1673Asp)
n.5104C>A
 gnomAD v4
19g.38485676C=CA2335046183RYR1c.5021C= (p.Ala1674=)
c.5018C= (p.Ala1673=)
n.5104C=
19g.38485676C>GCA405653144RYR1c.5021C>G (p.Ala1674Gly)
c.5018C>G (p.Ala1673Gly)
n.5104C>G
 gnomAD v4
19g.38485676C>TCA308092930RYR1c.5021C>T (p.Ala1674Val)
c.5018C>T (p.Ala1673Val)
n.5104C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38485677C>ACA507238532RYR1c.5022C>A (p.Ala1674=)
c.5019C>A (p.Ala1673=)
n.5105C>A
19g.38485677C=CA2335046184RYR1c.5022C= (p.Ala1674=)
c.5019C= (p.Ala1673=)
n.5105C=
19g.38485677C>GCA066605RYR1c.5022C>G (p.Ala1674=)
c.5019C>G (p.Ala1673=)
n.5105C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485677C>TCA081690RYR1c.5022C>T (p.Ala1674=)
c.5019C>T (p.Ala1673=)
n.5105C>T
 ClinVar
19g.38485679_38485763delCA2814345561RYR1c.5024_5108del (p.Leu1675GlnfsTer?)
c.5021_5105del (p.Leu1674GlnfsTer?)
n.5107_5191del
19g.38485678C>ACA405653147RYR1c.5023C>A (p.Leu1675Met)
c.5020C>A (p.Leu1674Met)
n.5106C>A
 gnomAD v4
19g.38485678C>GCA405653156RYR1c.5023C>G (p.Leu1675Val)
c.5020C>G (p.Leu1674Val)
n.5106C>G
19g.38485678C>TCA507238537RYR1c.5023C>T (p.Leu1675=)
c.5020C>T (p.Leu1674=)
n.5106C>T
19g.38485679T>ACA405653160RYR1c.5024T>A (p.Leu1675Gln)
c.5021T>A (p.Leu1674Gln)
n.5107T>A
19g.38485679T>CCA405653178RYR1c.5024T>C (p.Leu1675Pro)
c.5021T>C (p.Leu1674Pro)
n.5107T>C
 ClinVar dbSNP
19g.38485679T>GCA405653181RYR1c.5024T>G (p.Leu1675Arg)
c.5021T>G (p.Leu1674Arg)
n.5107T>G
19g.38485680G>ACA507238541RYR1c.5025G>A (p.Leu1675=)
c.5022G>A (p.Leu1674=)
n.5108G>A
 dbSNP
19g.38485680G>CCA10651848RYR1c.5025G>C (p.Leu1675=)
c.5022G>C (p.Leu1674=)
n.5108G>C
 ClinVar dbSNP gnomAD v4
19g.38485680G=CA2335046185RYR1c.5025G= (p.Leu1675=)
c.5022G= (p.Leu1674=)
n.5108G=
19g.38485680G>TCA507238543RYR1c.5025G>T (p.Leu1675=)
c.5022G>T (p.Leu1674=)
n.5108G>T
19g.38485681G>ACA405653200RYR1c.5026G>A (p.Gly1676Ser)
c.5023G>A (p.Gly1675Ser)
n.5109G>A
 dbSNP gnomAD v3 gnomAD v4
19g.38485681G>CCA405653201RYR1c.5026G>C (p.Gly1676Arg)
c.5023G>C (p.Gly1675Arg)
n.5109G>C
19g.38485681G>TCA405653202RYR1c.5026G>T (p.Gly1676Cys)
c.5023G>T (p.Gly1675Cys)
n.5109G>T
19g.38485682G>ACA066607RYR1c.5027G>A (p.Gly1676Asp)
c.5024G>A (p.Gly1675Asp)
n.5110G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38485682G>CCA405653204RYR1c.5027G>C (p.Gly1676Ala)
c.5024G>C (p.Gly1675Ala)
n.5110G>C
19g.38485682G=CA2335046186RYR1c.5027G= (p.Gly1676=)
c.5024G= (p.Gly1675=)
n.5110G=
19g.38485682G>TCA405653207RYR1c.5027G>T (p.Gly1676Val)
c.5024G>T (p.Gly1675Val)
n.5110G>T
 gnomAD v4
19g.38485683C>ACA507238547RYR1c.5028C>A (p.Gly1676=)
c.5025C>A (p.Gly1675=)
n.5111C>A
19g.38485683C>GCA507238549RYR1c.5028C>G (p.Gly1676=)
c.5025C>G (p.Gly1675=)
n.5111C>G
19g.38485683C>TCA507238551RYR1c.5028C>T (p.Gly1676=)
c.5025C>T (p.Gly1675=)
n.5111C>T
19g.38485684A>CCA405653210RYR1c.5029A>C (p.Asn1677His)
c.5026A>C (p.Asn1676His)
n.5112A>C
19g.38485684A>GCA405653213RYR1c.5029A>G (p.Asn1677Asp)
c.5026A>G (p.Asn1676Asp)
n.5112A>G
19g.38485684A>TCA405653215RYR1c.5029A>T (p.Asn1677Tyr)
c.5026A>T (p.Asn1676Tyr)
n.5112A>T
19g.38485685A>CCA405653219RYR1c.5030A>C (p.Asn1677Thr)
c.5027A>C (p.Asn1676Thr)
n.5113A>C
19g.38485685A>GCA405653228RYR1c.5030A>G (p.Asn1677Ser)
c.5027A>G (p.Asn1676Ser)
n.5113A>G
19g.38485685A>TCA405653223RYR1c.5030A>T (p.Asn1677Ile)
c.5027A>T (p.Asn1676Ile)
n.5113A>T
19g.38485686C>ACA405653231RYR1c.5031C>A (p.Asn1677Lys)
c.5028C>A (p.Asn1676Lys)
n.5114C>A
19g.38485686C>GCA405653232RYR1c.5031C>G (p.Asn1677Lys)
c.5028C>G (p.Asn1676Lys)
n.5114C>G
19g.38485686C>TCA507238555RYR1c.5031C>T (p.Asn1677=)
c.5028C>T (p.Asn1676=)
n.5114C>T
 gnomAD v4
19g.38485687A>CCA405653233RYR1c.5032A>C (p.Asn1678His)
c.5029A>C (p.Asn1677His)
n.5115A>C
19g.38485687A>GCA405653234RYR1c.5032A>G (p.Asn1678Asp)
c.5029A>G (p.Asn1677Asp)
n.5115A>G
19g.38485687A>TCA405653236RYR1c.5032A>T (p.Asn1678Tyr)
c.5029A>T (p.Asn1677Tyr)
n.5115A>T
 gnomAD v4
19g.38485688A=CA2335046187RYR1c.5033A= (p.Asn1678=)
c.5030A= (p.Asn1677=)
n.5116A=
19g.38485688A>CCA405653238RYR1c.5033A>C (p.Asn1678Thr)
c.5030A>C (p.Asn1677Thr)
n.5116A>C
19g.38485688A>GCA066616RYR1c.5033A>G (p.Asn1678Ser)
c.5030A>G (p.Asn1677Ser)
n.5116A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485688A>TCA405653241RYR1c.5033A>T (p.Asn1678Ile)
c.5030A>T (p.Asn1677Ile)
n.5116A>T
19g.38485689T>ACA405653254RYR1c.5034T>A (p.Asn1678Lys)
c.5031T>A (p.Asn1677Lys)
n.5117T>A
19g.38485689T>CCA507238560RYR1c.5034T>C (p.Asn1678=)
c.5031T>C (p.Asn1677=)
n.5117T>C
19g.38485689T>GCA405653260RYR1c.5034T>G (p.Asn1678Lys)
c.5031T>G (p.Asn1677Lys)
n.5117T>G
19g.38485690C>ACA405653265RYR1c.5035C>A (p.Arg1679Ser)
c.5032C>A (p.Arg1678Ser)
n.5118C>A
19g.38485690C=CA2335046188RYR1c.5035C= (p.Arg1679=)
c.5032C= (p.Arg1678=)
n.5118C=
19g.38485690C>GCA405653267RYR1c.5035C>G (p.Arg1679Gly)
c.5032C>G (p.Arg1678Gly)
n.5118C>G
19g.38485690C>TCA405653262RYR1c.5035C>T (p.Arg1679Cys)
c.5032C>T (p.Arg1678Cys)
n.5118C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38485691G>ACA024479RYR1c.5036G>A (p.Arg1679His)
c.5033G>A (p.Arg1678His)
n.5119G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38485691G>CCA405653279RYR1c.5036G>C (p.Arg1679Pro)
c.5033G>C (p.Arg1678Pro)
n.5119G>C
 dbSNP gnomAD v2 gnomAD v4
19g.38485691G=CA2335046189RYR1c.5036G= (p.Arg1679=)
c.5033G= (p.Arg1678=)
n.5119G=
19g.38485691G>TCA405653286RYR1c.5036G>T (p.Arg1679Leu)
c.5033G>T (p.Arg1678Leu)
n.5119G>T
 gnomAD v4
19g.38485692C>ACA507238563RYR1c.5037C>A (p.Arg1679=)
c.5034C>A (p.Arg1678=)
n.5120C>A
 gnomAD v4
19g.38485692C=CA2335046190RYR1c.5037C= (p.Arg1679=)
c.5034C= (p.Arg1678=)
n.5120C=
19g.38485692C>GCA066622RYR1c.5037C>G (p.Arg1679=)
c.5034C>G (p.Arg1678=)
n.5120C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485692C>TCA066628RYR1c.5037C>T (p.Arg1679=)
c.5034C>T (p.Arg1678=)
n.5120C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38485693G>ACA405653302RYR1c.5038G>A (p.Val1680Met)
c.5035G>A (p.Val1679Met)
n.5121G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38485693G>CCA405653301RYR1c.5038G>C (p.Val1680Leu)
c.5035G>C (p.Val1679Leu)
n.5121G>C
19g.38485693G=CA2335046191RYR1c.5038G= (p.Val1680=)
c.5035G= (p.Val1679=)
n.5121G=
19g.38485693G>TCA405653300RYR1c.5038G>T (p.Val1680Leu)
c.5035G>T (p.Val1679Leu)
n.5121G>T
19g.38485694T>ACA405653306RYR1c.5039T>A (p.Val1680Glu)
c.5036T>A (p.Val1679Glu)
n.5122T>A
19g.38485694T>CCA405653308RYR1c.5039T>C (p.Val1680Ala)
c.5036T>C (p.Val1679Ala)
n.5122T>C
19g.38485694T>GCA405653311RYR1c.5039T>G (p.Val1680Gly)
c.5036T>G (p.Val1679Gly)
n.5122T>G
19g.38485695G>ACA507238582RYR1c.5040G>A (p.Val1680=)
c.5037G>A (p.Val1679=)
n.5123G>A
 ClinVar dbSNP gnomAD v4
19g.38485695G>CCA507238580RYR1c.5040G>C (p.Val1680=)
c.5037G>C (p.Val1679=)
n.5123G>C
19g.38485695G=CA2335046192RYR1c.5040G= (p.Val1680=)
c.5037G= (p.Val1679=)
n.5123G=
19g.38485695G>TCA507238578RYR1c.5040G>T (p.Val1680=)
c.5037G>T (p.Val1679=)
n.5123G>T
19g.38485696G>ACA405653315RYR1c.5041G>A (p.Ala1681Thr)
c.5038G>A (p.Ala1680Thr)
n.5124G>A
19g.38485696G>CCA405653321RYR1c.5041G>C (p.Ala1681Pro)
c.5038G>C (p.Ala1680Pro)
n.5124G>C
19g.38485696G>TCA405653322RYR1c.5041G>T (p.Ala1681Ser)
c.5038G>T (p.Ala1680Ser)
n.5124G>T
 COSMIC
19g.38485697C>ACA308092960RYR1c.5042C>A (p.Ala1681Glu)
c.5039C>A (p.Ala1680Glu)
n.5125C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38485697C=CA2335046193RYR1c.5042C= (p.Ala1681=)
c.5039C= (p.Ala1680=)
n.5125C=
19g.38485697C>GCA405653334RYR1c.5042C>G (p.Ala1681Gly)
c.5039C>G (p.Ala1680Gly)
n.5125C>G
19g.38485697C>TCA405653329RYR1c.5042C>T (p.Ala1681Val)
c.5039C>T (p.Ala1680Val)
n.5125C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.38485698G>ACA507238600RYR1c.5043G>A (p.Ala1681=)
c.5040G>A (p.Ala1680=)
n.5126G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38485698G>CCA507238597RYR1c.5043G>C (p.Ala1681=)
c.5040G>C (p.Ala1680=)
n.5126G>C
 gnomAD v4
19g.38485698G=CA2335046194RYR1c.5043G= (p.Ala1681=)
c.5040G= (p.Ala1680=)
n.5126G=
19g.38485698G>TCA507238595RYR1c.5043G>T (p.Ala1681=)
c.5040G>T (p.Ala1680=)
n.5126G>T
 gnomAD v4
19g.38485699C>ACA405653340RYR1c.5044C>A (p.His1682Asn)
c.5041C>A (p.His1681Asn)
n.5127C>A
 ClinVar dbSNP
19g.38485699C=CA2335046195RYR1c.5044C= (p.His1682=)
c.5041C= (p.His1681=)
n.5127C=
19g.38485699C>GCA405653343RYR1c.5044C>G (p.His1682Asp)
c.5041C>G (p.His1681Asp)
n.5127C>G
19g.38485699C>TCA066630RYR1c.5044C>T (p.His1682Tyr)
c.5041C>T (p.His1681Tyr)
n.5127C>T
 dbSNP ExAC gnomAD v2
19g.38485700A>CCA405653344RYR1c.5045A>C (p.His1682Pro)
c.5042A>C (p.His1681Pro)
n.5128A>C
19g.38485700A>GCA405653345RYR1c.5045A>G (p.His1682Arg)
c.5042A>G (p.His1681Arg)
n.5128A>G
19g.38485700A>TCA405653346RYR1c.5045A>T (p.His1682Leu)
c.5042A>T (p.His1681Leu)
n.5128A>T
 gnomAD v4
19g.38485701C>ACA405653350RYR1c.5046C>A (p.His1682Gln)
c.5043C>A (p.His1681Gln)
n.5129C>A
19g.38485701C=CA2335046196RYR1c.5046C= (p.His1682=)
c.5043C= (p.His1681=)
n.5129C=
19g.38485701C>GCA405653352RYR1c.5046C>G (p.His1682Gln)
c.5043C>G (p.His1681Gln)
n.5129C>G
19g.38485701C>TCA066634RYR1c.5046C>T (p.His1682=)
c.5043C>T (p.His1681=)
n.5129C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38485702G>ACA405653357RYR1c.5047G>A (p.Ala1683Thr)
c.5044G>A (p.Ala1682Thr)
n.5130G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.38485702G>CCA405653363RYR1c.5047G>C (p.Ala1683Pro)
c.5044G>C (p.Ala1682Pro)
n.5130G>C
19g.38485702G=CA2335046197RYR1c.5047G= (p.Ala1683=)
c.5044G= (p.Ala1682=)
n.5130G=
19g.38485702G>TCA405653367RYR1c.5047G>T (p.Ala1683Ser)
c.5044G>T (p.Ala1682Ser)
n.5130G>T
 gnomAD v4
19g.38485703C>ACA405653371RYR1c.5048C>A (p.Ala1683Asp)
c.5045C>A (p.Ala1682Asp)
n.5131C>A
 dbSNP gnomAD v3 gnomAD v4
19g.38485703C=CA2335046198RYR1c.5048C= (p.Ala1683=)
c.5045C= (p.Ala1682=)
n.5131C=
19g.38485703C>GCA405653380RYR1c.5048C>G (p.Ala1683Gly)
c.5045C>G (p.Ala1682Gly)
n.5131C>G
19g.38485703C>TCA405653378RYR1c.5048C>T (p.Ala1683Val)
c.5045C>T (p.Ala1682Val)
n.5131C>T
19g.38485704T>ACA507238605RYR1c.5049T>A (p.Ala1683=)
c.5046T>A (p.Ala1682=)
n.5132T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38485704T>CCA507238606RYR1c.5049T>C (p.Ala1683=)
c.5046T>C (p.Ala1682=)
n.5132T>C
19g.38485704T>GCA507238607RYR1c.5049T>G (p.Ala1683=)
c.5046T>G (p.Ala1682=)
n.5132T>G
19g.38485704T=CA2335046199RYR1c.5049T= (p.Ala1683=)
c.5046T= (p.Ala1682=)
n.5132T=

Number of alleles fetched