Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38499120C>ACA405667108RYR1c.6904C>A (p.Leu2302Met)
c.6901C>A (p.Leu2301Met)
c.356C>A
n.6987C>A
19g.38499120C=CA2335052595RYR1c.6904C= (p.Leu2302=)
c.6901C= (p.Leu2301=)
c.356C=
n.6987C=
19g.38499120C>GCA405667109RYR1c.6904C>G (p.Leu2302Val)
c.6901C>G (p.Leu2301Val)
c.356C>G
n.6987C>G
19g.38499120C>TCA10603865RYR1c.6904C>T (p.Leu2302=)
c.6901C>T (p.Leu2301=)
c.356C>T
n.6987C>T
 ClinVar dbSNP
19g.38499121T>ACA405667112RYR1c.6905T>A (p.Leu2302Gln)
c.6902T>A (p.Leu2301Gln)
c.357T>A
n.6988T>A
19g.38499121T>CCA405667113RYR1c.6905T>C (p.Leu2302Pro)
c.6902T>C (p.Leu2301Pro)
c.357T>C
n.6988T>C
19g.38499121T>GCA405667114RYR1c.6905T>G (p.Leu2302Arg)
c.6902T>G (p.Leu2301Arg)
c.357T>G
n.6988T>G
 gnomAD v4
19g.38499121dupCA082241RYR1c.6905dup (p.Ala2303GlyfsTer?)
c.6902dup (p.Ala2302GlyfsTer?)
c.357dup
n.6988dup
19g.38499122G>ACA507243089RYR1c.6906G>A (p.Leu2302=)
c.6903G>A (p.Leu2301=)
c.358G>A
n.6989G>A
19g.38499122G>CCA507243090RYR1c.6906G>C (p.Leu2302=)
c.6903G>C (p.Leu2301=)
c.358G>C
n.6989G>C
 ClinVar
19g.38499122G>TCA507243091RYR1c.6906G>T (p.Leu2302=)
c.6903G>T (p.Leu2301=)
c.358G>T
n.6989G>T
 gnomAD v4
19g.38499123G>ACA405667117RYR1c.6907G>A (p.Ala2303Thr)
c.6904G>A (p.Ala2302Thr)
c.359G>A
n.6990G>A
19g.38499123G>CCA405667118RYR1c.6907G>C (p.Ala2303Pro)
c.6904G>C (p.Ala2302Pro)
c.359G>C
n.6990G>C
19g.38499123G>TCA405667120RYR1c.6907G>T (p.Ala2303Ser)
c.6904G>T (p.Ala2302Ser)
c.359G>T
n.6990G>T
 gnomAD v4
19g.38499124C>ACA405667121RYR1c.6908C>A (p.Ala2303Glu)
c.6905C>A (p.Ala2302Glu)
c.360C>A
n.6991C>A
19g.38499124C=CA2335052596RYR1c.6908C= (p.Ala2303=)
c.6905C= (p.Ala2302=)
c.360C=
n.6991C=
19g.38499124C>GCA405667123RYR1c.6908C>G (p.Ala2303Gly)
c.6905C>G (p.Ala2302Gly)
c.360C>G
n.6991C>G
19g.38499124C>TCA308107247RYR1c.6908C>T (p.Ala2303Val)
c.6905C>T (p.Ala2302Val)
c.360C>T
n.6991C>T
 dbSNP gnomAD v4
19g.38499125A>CCA507243096RYR1c.6909A>C (p.Ala2303=)
c.6906A>C (p.Ala2302=)
c.361A>C
n.6992A>C
19g.38499125A>GCA507243098RYR1c.6909A>G (p.Ala2303=)
c.6906A>G (p.Ala2302=)
c.361A>G
n.6992A>G
19g.38499125A>TCA507243095RYR1c.6909A>T (p.Ala2303=)
c.6906A>T (p.Ala2302=)
c.361A>T
n.6992A>T
19g.38499126G>ACA068924RYR1c.6910G>A (p.Gly2304Ser)
c.6907G>A (p.Gly2303Ser)
c.362G>A
n.6993G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499126G>CCA405667127RYR1c.6910G>C (p.Gly2304Arg)
c.6907G>C (p.Gly2303Arg)
c.362G>C
n.6993G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499126G=CA2335052597RYR1c.6910G= (p.Gly2304=)
c.6907G= (p.Gly2303=)
c.362G=
n.6993G=
19g.38499126G>TCA405667126RYR1c.6910G>T (p.Gly2304Cys)
c.6907G>T (p.Gly2303Cys)
c.362G>T
n.6993G>T
19g.38499126_38499127insTCA082243RYR1c.6910_6911insT (p.Gly2304ValfsTer?)
c.6907_6908insT (p.Gly2303ValfsTer?)
c.362_363insT
n.6993_6994insT
19g.38499127G>ACA405667130RYR1c.6911G>A (p.Gly2304Asp)
c.6908G>A (p.Gly2303Asp)
c.363G>A
n.6994G>A
19g.38499127G>CCA068925RYR1c.6911G>C (p.Gly2304Ala)
c.6908G>C (p.Gly2303Ala)
c.363G>C
n.6994G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499127G=CA2335052598RYR1c.6911G= (p.Gly2304=)
c.6908G= (p.Gly2303=)
c.363G=
n.6994G=
19g.38499127G>TCA405667131RYR1c.6911G>T (p.Gly2304Val)
c.6908G>T (p.Gly2303Val)
c.363G>T
n.6994G>T
19g.38499128C>ACA507243106RYR1c.6912C>A (p.Gly2304=)
c.6909C>A (p.Gly2303=)
c.364C>A
n.6995C>A
19g.38499128C>GCA507243107RYR1c.6912C>G (p.Gly2304=)
c.6909C>G (p.Gly2303=)
c.364C>G
n.6995C>G
 ClinVar
19g.38499128C>TCA507243108RYR1c.6912C>T (p.Gly2304=)
c.6909C>T (p.Gly2303=)
c.364C>T
n.6995C>T
19g.38499129T>ACA405667132RYR1c.6913T>A (p.Cys2305Ser)
c.6910T>A (p.Cys2304Ser)
c.365T>A
n.6996T>A
19g.38499129T>CCA405667133RYR1c.6913T>C (p.Cys2305Arg)
c.6910T>C (p.Cys2304Arg)
c.365T>C
n.6996T>C
19g.38499129T>GCA405667135RYR1c.6913T>G (p.Cys2305Gly)
c.6910T>G (p.Cys2304Gly)
c.365T>G
n.6996T>G
19g.38499130G>ACA405667136RYR1c.6914G>A (p.Cys2305Tyr)
c.6911G>A (p.Cys2304Tyr)
c.366G>A
n.6997G>A
19g.38499130G>CCA082270RYR1c.6914G>C (p.Cys2305Ser)
c.6911G>C (p.Cys2304Ser)
c.366G>C
n.6997G>C
 ClinVar gnomAD v4
19g.38499130G>TCA405667138RYR1c.6914G>T (p.Cys2305Phe)
c.6911G>T (p.Cys2304Phe)
c.366G>T
n.6997G>T
19g.38499131T>ACA405667140RYR1c.6915T>A (p.Cys2305Ter)
c.6912T>A (p.Cys2304Ter)
c.367T>A
n.6998T>A
19g.38499131T>CCA507243115RYR1c.6915T>C (p.Cys2305=)
c.6912T>C (p.Cys2304=)
c.367T>C
n.6998T>C
19g.38499131T>GCA405667141RYR1c.6915T>G (p.Cys2305Trp)
c.6912T>G (p.Cys2304Trp)
c.367T>G
n.6998T>G
 dbSNP
19g.38499132G>ACA405667142RYR1c.6916G>A (p.Gly2306Ser)
c.6913G>A (p.Gly2305Ser)
c.368G>A
n.6999G>A
19g.38499132G>CCA405667144RYR1c.6916G>C (p.Gly2306Arg)
c.6913G>C (p.Gly2305Arg)
c.368G>C
n.6999G>C
19g.38499132G>TCA405667146RYR1c.6916G>T (p.Gly2306Cys)
c.6913G>T (p.Gly2305Cys)
c.368G>T
n.6999G>T
19g.38499133G>ACA405667151RYR1c.6917G>A (p.Gly2306Asp)
c.6914G>A (p.Gly2305Asp)
c.369G>A
n.7000G>A
19g.38499133G>CCA405667149RYR1c.6917G>C (p.Gly2306Ala)
c.6914G>C (p.Gly2305Ala)
c.369G>C
n.7000G>C
19g.38499133G>TCA405667148RYR1c.6917G>T (p.Gly2306Val)
c.6914G>T (p.Gly2305Val)
c.369G>T
n.7000G>T
19g.38499134C>ACA507243122RYR1c.6918C>A (p.Gly2306=)
c.6915C>A (p.Gly2305=)
c.370C>A
n.7001C>A
19g.38499134C>GCA507243124RYR1c.6918C>G (p.Gly2306=)
c.6915C>G (p.Gly2305=)
c.370C>G
n.7001C>G
19g.38499134C>TCA507243126RYR1c.6918C>T (p.Gly2306=)
c.6915C>T (p.Gly2305=)
c.370C>T
n.7001C>T
19g.38499135C>ACA405667153RYR1c.6919C>A (p.Leu2307Ile)
c.6916C>A (p.Leu2306Ile)
c.371C>A
n.7002C>A
19g.38499135C>GCA405667154RYR1c.6919C>G (p.Leu2307Val)
c.6916C>G (p.Leu2306Val)
c.371C>G
n.7002C>G
19g.38499135C>TCA405667156RYR1c.6919C>T (p.Leu2307Phe)
c.6916C>T (p.Leu2306Phe)
c.371C>T
n.7002C>T
 gnomAD v4
19g.38499136T>ACA405667157RYR1c.6920T>A (p.Leu2307His)
c.6917T>A (p.Leu2306His)
c.372T>A
n.7003T>A
19g.38499136T>CCA405667159RYR1c.6920T>C (p.Leu2307Pro)
c.6917T>C (p.Leu2306Pro)
c.372T>C
n.7003T>C
19g.38499136T>GCA405667161RYR1c.6920T>G (p.Leu2307Arg)
c.6917T>G (p.Leu2306Arg)
c.372T>G
n.7003T>G
19g.38499137C>ACA507243133RYR1c.6921C>A (p.Leu2307=)
c.6918C>A (p.Leu2306=)
c.373C>A
n.7004C>A
19g.38499137C=CA2335052599RYR1c.6921C= (p.Leu2307=)
c.6918C= (p.Leu2306=)
c.373C=
n.7004C=
19g.38499137C>GCA068928RYR1c.6921C>G (p.Leu2307=)
c.6918C>G (p.Leu2306=)
c.373C>G
n.7004C>G
 ClinVar dbSNP ExAC gnomAD v2
19g.38499137C>TCA507243134RYR1c.6921C>T (p.Leu2307=)
c.6918C>T (p.Leu2306=)
c.373C>T
n.7004C>T
19g.38499138C>ACA405667163RYR1c.6922C>A (p.Gln2308Lys)
c.6919C>A (p.Gln2307Lys)
c.374C>A
n.7005C>A
19g.38499138C>GCA405667164RYR1c.6922C>G (p.Gln2308Glu)
c.6919C>G (p.Gln2307Glu)
c.374C>G
n.7005C>G
19g.38499138C>TCA405667166RYR1c.6922C>T (p.Gln2308Ter)
c.6919C>T (p.Gln2307Ter)
c.374C>T
n.7005C>T
19g.38499139A>CCA405667168RYR1c.6923A>C (p.Gln2308Pro)
c.6920A>C (p.Gln2307Pro)
c.375A>C
n.7006A>C
19g.38499139A>GCA405667169RYR1c.6923A>G (p.Gln2308Arg)
c.6920A>G (p.Gln2307Arg)
c.375A>G
n.7006A>G
19g.38499139A>TCA405667171RYR1c.6923A>T (p.Gln2308Leu)
c.6920A>T (p.Gln2307Leu)
c.375A>T
n.7006A>T
 ClinVar
19g.38499140G>ACA507243141RYR1c.6924G>A (p.Gln2308=)
c.6921G>A (p.Gln2307=)
c.376G>A
n.7007G>A
19g.38499140G>CCA405667174RYR1c.6924G>C (p.Gln2308His)
c.6921G>C (p.Gln2307His)
c.376G>C
n.7007G>C
19g.38499140G>TCA405667173RYR1c.6924G>T (p.Gln2308His)
c.6921G>T (p.Gln2307His)
c.376G>T
n.7007G>T
19g.38499141A>CCA405667177RYR1c.6925A>C (p.Ser2309Arg)
c.6922A>C (p.Ser2308Arg)
c.377A>C
n.7008A>C
19g.38499141A>GCA405667179RYR1c.6925A>G (p.Ser2309Gly)
c.6922A>G (p.Ser2308Gly)
c.377A>G
n.7008A>G
19g.38499141A>TCA405667180RYR1c.6925A>T (p.Ser2309Cys)
c.6922A>T (p.Ser2308Cys)
c.377A>T
n.7008A>T
19g.38499142G>ACA405667182RYR1c.6926G>A (p.Ser2309Asn)
c.6923G>A (p.Ser2308Asn)
c.378G>A
n.7009G>A
 ClinVar dbSNP gnomAD v4
19g.38499142G>CCA405667183RYR1c.6926G>C (p.Ser2309Thr)
c.6923G>C (p.Ser2308Thr)
c.378G>C
n.7009G>C
19g.38499142G>TCA405667184RYR1c.6926G>T (p.Ser2309Ile)
c.6923G>T (p.Ser2308Ile)
c.378G>T
n.7009G>T
19g.38499143C>ACA405667185RYR1c.6927C>A (p.Ser2309Arg)
c.6924C>A (p.Ser2308Arg)
c.379C>A
n.7010C>A
19g.38499143C>GCA405667187RYR1c.6927C>G (p.Ser2309Arg)
c.6924C>G (p.Ser2308Arg)
c.379C>G
n.7010C>G
19g.38499143C>TCA507243147RYR1c.6927C>T (p.Ser2309=)
c.6924C>T (p.Ser2308=)
c.379C>T
n.7010C>T
19g.38499144T>ACA405667188RYR1c.6928T>A (p.Cys2310Ser)
c.6925T>A (p.Cys2309Ser)
c.380T>A
n.7011T>A
19g.38499144T>CCA405667190RYR1c.6928T>C (p.Cys2310Arg)
c.6925T>C (p.Cys2309Arg)
c.380T>C
n.7011T>C
 dbSNP
19g.38499144T>GCA405667191RYR1c.6928T>G (p.Cys2310Gly)
c.6925T>G (p.Cys2309Gly)
c.380T>G
n.7011T>G
19g.38499144T=CA2335052601RYR1c.6928T= (p.Cys2310=)
c.6925T= (p.Cys2309=)
c.380T=
n.7011T=
19g.38499144_38499145delinsTGCA2335052600RYR1c.6928_6929delinsTG (p.Cys2310=)
c.6925_6926delinsTG (p.Cys2309=)
c.380_381delinsTG
n.7011_7012delinsTG
19g.38499145delCA2335052602RYR1c.6929del (p.Cys2310SerfsTer?)
c.6926del (p.Cys2309SerfsTer?)
c.381del
n.7012del
 dbSNP
19g.38499145G>ACA405667193RYR1c.6929G>A (p.Cys2310Tyr)
c.6926G>A (p.Cys2309Tyr)
c.381G>A
n.7012G>A
19g.38499145G>CCA405667195RYR1c.6929G>C (p.Cys2310Ser)
c.6926G>C (p.Cys2309Ser)
c.381G>C
n.7012G>C
19g.38499145G=CA2335052603RYR1c.6929G= (p.Cys2310=)
c.6926G= (p.Cys2309=)
c.381G=
n.7012G=
19g.38499145G>TCA405667196RYR1c.6929G>T (p.Cys2310Phe)
c.6926G>T (p.Cys2309Phe)
c.381G>T
n.7012G>T
 COSMIC
19g.38499146C>ACA405667198RYR1c.6930C>A (p.Cys2310Ter)
c.6927C>A (p.Cys2309Ter)
c.382C>A
n.7013C>A
19g.38499146C>GCA405667200RYR1c.6930C>G (p.Cys2310Trp)
c.6927C>G (p.Cys2309Trp)
c.382C>G
n.7013C>G
 COSMIC
19g.38499146C>TCA507243150RYR1c.6930C>T (p.Cys2310=)
c.6927C>T (p.Cys2309=)
c.382C>T
n.7013C>T
19g.38499149dupCA916082460RYR1c.6933dup (p.Met2312HisfsTer?)
c.6930dup (p.Met2311HisfsTer?)
c.385dup
n.7016dup
 ClinVar dbSNP
19g.38499149delCA2695228664RYR1c.6933del (p.Met2312CysfsTer?)
c.6930del (p.Met2311CysfsTer?)
c.385del
n.7016del
19g.38499147C>ACA405667202RYR1c.6931C>A (p.Pro2311Thr)
c.6928C>A (p.Pro2310Thr)
c.383C>A
n.7014C>A
19g.38499147C>GCA405667203RYR1c.6931C>G (p.Pro2311Ala)
c.6928C>G (p.Pro2310Ala)
c.383C>G
n.7014C>G
19g.38499147C>TCA405667205RYR1c.6931C>T (p.Pro2311Ser)
c.6928C>T (p.Pro2310Ser)
c.383C>T
n.7014C>T
19g.38499148C>ACA405667206RYR1c.6932C>A (p.Pro2311His)
c.6929C>A (p.Pro2310His)
c.384C>A
n.7015C>A
19g.38499148C=CA2335052604RYR1c.6932C= (p.Pro2311=)
c.6929C= (p.Pro2310=)
c.384C=
n.7015C=
19g.38499148C>GCA405667208RYR1c.6932C>G (p.Pro2311Arg)
c.6929C>G (p.Pro2310Arg)
c.384C>G
n.7015C>G
 ClinVar
19g.38499148C>TCA068933RYR1c.6932C>T (p.Pro2311Leu)
c.6929C>T (p.Pro2310Leu)
c.384C>T
n.7015C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499149C>ACA507243154RYR1c.6933C>A (p.Pro2311=)
c.6930C>A (p.Pro2310=)
c.385C>A
n.7016C>A
19g.38499149C=CA2335052605RYR1c.6933C= (p.Pro2311=)
c.6930C= (p.Pro2310=)
c.385C=
n.7016C=
19g.38499149C>GCA507243153RYR1c.6933C>G (p.Pro2311=)
c.6930C>G (p.Pro2310=)
c.385C>G
n.7016C>G
19g.38499149C>TCA507243152RYR1c.6933C>T (p.Pro2311=)
c.6930C>T (p.Pro2310=)
c.385C>T
n.7016C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38499150A>CCA405667210RYR1c.6934A>C (p.Met2312Leu)
c.6931A>C (p.Met2311Leu)
c.386A>C
n.7017A>C
19g.38499150A>GCA405667211RYR1c.6934A>G (p.Met2312Val)
c.6931A>G (p.Met2311Val)
c.386A>G
n.7017A>G
19g.38499150A>TCA405667212RYR1c.6934A>T (p.Met2312Leu)
c.6931A>T (p.Met2311Leu)
c.386A>T
n.7017A>T
19g.38499151T>ACA405667214RYR1c.6935T>A (p.Met2312Lys)
c.6932T>A (p.Met2311Lys)
c.387T>A
n.7018T>A
19g.38499151T>CCA405667215RYR1c.6935T>C (p.Met2312Thr)
c.6932T>C (p.Met2311Thr)
c.387T>C
n.7018T>C
19g.38499151T>GCA405667217RYR1c.6935T>G (p.Met2312Arg)
c.6932T>G (p.Met2311Arg)
c.387T>G
n.7018T>G
19g.38499153_38499156delCA2576771049RYR1c.6937_6940del (p.Leu2313TrpfsTer?)
c.6934_6937del (p.Leu2312TrpfsTer?)
c.389_392del
n.7020_7023del
19g.38499152G>ACA405667221RYR1c.6936G>A (p.Met2312Ile)
c.6933G>A (p.Met2311Ile)
c.388G>A
n.7019G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38499152G>CCA405667220RYR1c.6936G>C (p.Met2312Ile)
c.6933G>C (p.Met2311Ile)
c.388G>C
n.7019G>C
19g.38499152G=CA2335052606RYR1c.6936G= (p.Met2312=)
c.6933G= (p.Met2311=)
c.388G=
n.7019G=
19g.38499152G>TCA405667218RYR1c.6936G>T (p.Met2312Ile)
c.6933G>T (p.Met2311Ile)
c.388G>T
n.7019G>T
19g.38499153C>ACA405667223RYR1c.6937C>A (p.Leu2313Ile)
c.6934C>A (p.Leu2312Ile)
c.389C>A
n.7020C>A
 dbSNP gnomAD v3 gnomAD v4
19g.38499153C=CA2335052607RYR1c.6937C= (p.Leu2313=)
c.6934C= (p.Leu2312=)
c.389C=
n.7020C=
19g.38499153C>GCA082249RYR1c.6937C>G (p.Leu2313Val)
c.6934C>G (p.Leu2312Val)
c.389C>G
n.7020C>G
19g.38499153C>TCA082250RYR1c.6937C>T (p.Leu2313Phe)
c.6934C>T (p.Leu2312Phe)
c.389C>T
n.7020C>T
19g.38499154T>ACA405667224RYR1c.6938T>A (p.Leu2313His)
c.6935T>A (p.Leu2312His)
c.390T>A
n.7021T>A
19g.38499154T>CCA405667225RYR1c.6938T>C (p.Leu2313Pro)
c.6935T>C (p.Leu2312Pro)
c.390T>C
n.7021T>C
19g.38499154T>GCA405667226RYR1c.6938T>G (p.Leu2313Arg)
c.6935T>G (p.Leu2312Arg)
c.390T>G
n.7021T>G
 ClinVar
19g.38499155T>ACA507243160RYR1c.6939T>A (p.Leu2313=)
c.6936T>A (p.Leu2312=)
c.391T>A
n.7022T>A
19g.38499155T>CCA507243162RYR1c.6939T>C (p.Leu2313=)
c.6936T>C (p.Leu2312=)
c.391T>C
n.7022T>C
 ClinVar gnomAD v4
19g.38499155T>GCA507243163RYR1c.6939T>G (p.Leu2313=)
c.6936T>G (p.Leu2312=)
c.391T>G
n.7022T>G
19g.38499156G>ACA405667228RYR1c.6940G>A (p.Val2314Met)
c.6937G>A (p.Val2313Met)
c.392G>A
n.7023G>A
 gnomAD v4
19g.38499156G>CCA405667229RYR1c.6940G>C (p.Val2314Leu)
c.6937G>C (p.Val2313Leu)
c.392G>C
n.7023G>C
19g.38499156G>TCA405667230RYR1c.6940G>T (p.Val2314Leu)
c.6937G>T (p.Val2313Leu)
c.392G>T
n.7023G>T
19g.38499157T>ACA405667232RYR1c.6941T>A (p.Val2314Glu)
c.6938T>A (p.Val2313Glu)
c.393T>A
n.7024T>A
19g.38499157T>CCA405667234RYR1c.6941T>C (p.Val2314Ala)
c.6938T>C (p.Val2313Ala)
c.393T>C
n.7024T>C
19g.38499157T>GCA405667236RYR1c.6941T>G (p.Val2314Gly)
c.6938T>G (p.Val2313Gly)
c.393T>G
n.7024T>G
19g.38499158G>ACA507243164RYR1c.6942G>A (p.Val2314=)
c.6939G>A (p.Val2313=)
c.394G>A
n.7025G>A
 ClinVar dbSNP gnomAD v4
19g.38499158G>CCA507243166RYR1c.6942G>C (p.Val2314=)
c.6939G>C (p.Val2313=)
c.394G>C
n.7025G>C
19g.38499158G=CA2335052608RYR1c.6942G= (p.Val2314=)
c.6939G= (p.Val2313=)
c.394G=
n.7025G=
19g.38499158G>TCA507243167RYR1c.6942G>T (p.Val2314=)
c.6939G>T (p.Val2313=)
c.394G>T
n.7025G>T
19g.38499159G>ACA082255RYR1c.6943G>A (p.Ala2315Thr)
c.6940G>A (p.Ala2314Thr)
c.395G>A
n.7026G>A
 COSMIC
19g.38499159G>CCA405667237RYR1c.6943G>C (p.Ala2315Pro)
c.6940G>C (p.Ala2314Pro)
c.395G>C
n.7026G>C
19g.38499159G>TCA405667239RYR1c.6943G>T (p.Ala2315Ser)
c.6940G>T (p.Ala2314Ser)
c.395G>T
n.7026G>T
19g.38499160C>ACA405667244RYR1c.6944C>A (p.Ala2315Asp)
c.6941C>A (p.Ala2314Asp)
c.396C>A
n.7027C>A
19g.38499160C=CA2335052609RYR1c.6944C= (p.Ala2315=)
c.6941C= (p.Ala2314=)
c.396C=
n.7027C=
19g.38499160C>GCA405667241RYR1c.6944C>G (p.Ala2315Gly)
c.6941C>G (p.Ala2314Gly)
c.396C>G
n.7027C>G
19g.38499160C>TCA405667242RYR1c.6944C>T (p.Ala2315Val)
c.6941C>T (p.Ala2314Val)
c.396C>T
n.7027C>T
 ClinVar dbSNP gnomAD v4
19g.38499161C>ACA507243168RYR1c.6945C>A (p.Ala2315=)
c.6942C>A (p.Ala2314=)
c.397C>A
n.7028C>A
19g.38499161C>GCA507243169RYR1c.6945C>G (p.Ala2315=)
c.6942C>G (p.Ala2314=)
c.397C>G
n.7028C>G
19g.38499161C>TCA507243170RYR1c.6945C>T (p.Ala2315=)
c.6942C>T (p.Ala2314=)
c.397C>T
n.7028C>T
19g.38499162A=CA2335052610RYR1c.6946A= (p.Lys2316=)
c.6943A= (p.Lys2315=)
c.398A=
n.7029A=
19g.38499162A>CCA405667246RYR1c.6946A>C (p.Lys2316Gln)
c.6943A>C (p.Lys2315Gln)
c.398A>C
n.7029A>C
19g.38499162A>GCA082256RYR1c.6946A>G (p.Lys2316Glu)
c.6943A>G (p.Lys2315Glu)
c.398A>G
n.7029A>G
 dbSNP
19g.38499162A>TCA405667248RYR1c.6946A>T (p.Lys2316Ter)
c.6943A>T (p.Lys2315Ter)
c.398A>T
n.7029A>T
19g.38499164dupCA2584899833RYR1c.6948dup (p.Gly2317ArgfsTer?)
c.6945dup (p.Gly2316ArgfsTer?)
c.400dup
n.7031dup
 ClinVar gnomAD v4
19g.38499163A>CCA405667249RYR1c.6947A>C (p.Lys2316Thr)
c.6944A>C (p.Lys2315Thr)
c.399A>C
n.7030A>C
19g.38499163A>GCA405667250RYR1c.6947A>G (p.Lys2316Arg)
c.6944A>G (p.Lys2315Arg)
c.399A>G
n.7030A>G
 ClinVar
19g.38499163A>TCA405667251RYR1c.6947A>T (p.Lys2316Ile)
c.6944A>T (p.Lys2315Ile)
c.399A>T
n.7030A>T
19g.38499164A>CCA405667253RYR1c.6948A>C (p.Lys2316Asn)
c.6945A>C (p.Lys2315Asn)
c.400A>C
n.7031A>C
19g.38499164A>GCA507243172RYR1c.6948A>G (p.Lys2316=)
c.6945A>G (p.Lys2315=)
c.400A>G
n.7031A>G
19g.38499164A>TCA405667255RYR1c.6948A>T (p.Lys2316Asn)
c.6945A>T (p.Lys2315Asn)
c.400A>T
n.7031A>T
19g.38499165G>ACA405667256RYR1c.6949G>A (p.Gly2317Arg)
c.6946G>A (p.Gly2316Arg)
c.401G>A
n.7032G>A
19g.38499165G>CCA405667258RYR1c.6949G>C (p.Gly2317Arg)
c.6946G>C (p.Gly2316Arg)
c.401G>C
n.7032G>C
 dbSNP gnomAD v2 gnomAD v4
19g.38499165G=CA2335052611RYR1c.6949G= (p.Gly2317=)
c.6946G= (p.Gly2316=)
c.401G=
n.7032G=
19g.38499165G>TCA405667259RYR1c.6949G>T (p.Gly2317Trp)
c.6946G>T (p.Gly2316Trp)
c.401G>T
n.7032G>T
19g.38499166G>ACA068937RYR1c.6950G>A (p.Gly2317Glu)
c.6947G>A (p.Gly2316Glu)
c.402G>A
n.7033G>A
 dbSNP ExAC gnomAD v2
19g.38499166G>CCA405667263RYR1c.6950G>C (p.Gly2317Ala)
c.6947G>C (p.Gly2316Ala)
c.402G>C
n.7033G>C
19g.38499166G=CA2335052612RYR1c.6950G= (p.Gly2317=)
c.6947G= (p.Gly2316=)
c.402G=
n.7033G=
19g.38499166G>TCA405667261RYR1c.6950G>T (p.Gly2317Val)
c.6947G>T (p.Gly2316Val)
c.402G>T
n.7033G>T
19g.38499166_38499168dupCA2584899834RYR1c.6950_6952dup (p.Gly2317_Tyr2318insTrp)
c.6947_6949dup (p.Gly2316_Tyr2317insTrp)
c.402_404dup
n.7033_7035dup
 gnomAD v4
19g.38499167G>ACA507243174RYR1c.6951G>A (p.Gly2317=)
c.6948G>A (p.Gly2316=)
c.403G>A
n.7034G>A
 ClinVar gnomAD v4
19g.38499167G>CCA507243175RYR1c.6951G>C (p.Gly2317=)
c.6948G>C (p.Gly2316=)
c.403G>C
n.7034G>C
19g.38499167G>TCA507243173RYR1c.6951G>T (p.Gly2317=)
c.6948G>T (p.Gly2316=)
c.403G>T
n.7034G>T
 ClinVar
19g.38499168T>ACA405667265RYR1c.6952T>A (p.Tyr2318Asn)
c.6949T>A (p.Tyr2317Asn)
c.404T>A
n.7035T>A
19g.38499168T>CCA405667266RYR1c.6952T>C (p.Tyr2318His)
c.6949T>C (p.Tyr2317His)
c.404T>C
n.7035T>C
 ClinVar gnomAD v4
19g.38499168T>GCA405667268RYR1c.6952T>G (p.Tyr2318Asp)
c.6949T>G (p.Tyr2317Asp)
c.404T>G
n.7035T>G
19g.38499169A>CCA405667270RYR1c.6953A>C (p.Tyr2318Ser)
c.6950A>C (p.Tyr2317Ser)
c.405A>C
n.7036A>C
19g.38499169A>GCA405667271RYR1c.6953A>G (p.Tyr2318Cys)
c.6950A>G (p.Tyr2317Cys)
c.405A>G
n.7036A>G
19g.38499169A>TCA405667272RYR1c.6953A>T (p.Tyr2318Phe)
c.6950A>T (p.Tyr2317Phe)
c.405A>T
n.7036A>T
19g.38499170C>ACA405667276RYR1c.6954C>A (p.Tyr2318Ter)
c.6951C>A (p.Tyr2317Ter)
c.406C>A
n.7037C>A
19g.38499170C=CA2335052613RYR1c.6954C= (p.Tyr2318=)
c.6951C= (p.Tyr2317=)
c.406C=
n.7037C=
19g.38499170C>GCA405667274RYR1c.6954C>G (p.Tyr2318Ter)
c.6951C>G (p.Tyr2317Ter)
c.406C>G
n.7037C>G
19g.38499170C>TCA507243177RYR1c.6954C>T (p.Tyr2318=)
c.6951C>T (p.Tyr2317=)
c.406C>T
n.7037C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38499171C>ACA405667278RYR1c.6955C>A (p.Pro2319Thr)
c.6952C>A (p.Pro2318Thr)
c.407C>A
n.7038C>A
19g.38499171C=CA2335052614RYR1c.6955C= (p.Pro2319=)
c.6952C= (p.Pro2318=)
c.407C=
n.7038C=
19g.38499171C>GCA405667279RYR1c.6955C>G (p.Pro2319Ala)
c.6952C>G (p.Pro2318Ala)
c.407C>G
n.7038C>G
19g.38499171C>TCA405667281RYR1c.6955C>T (p.Pro2319Ser)
c.6952C>T (p.Pro2318Ser)
c.407C>T
n.7038C>T
 dbSNP gnomAD v4 COSMIC
19g.38499172C>ACA405667283RYR1c.6956C>A (p.Pro2319Gln)
c.6953C>A (p.Pro2318Gln)
c.408C>A
n.7039C>A
19g.38499172C>GCA405667284RYR1c.6956C>G (p.Pro2319Arg)
c.6953C>G (p.Pro2318Arg)
c.408C>G
n.7039C>G
19g.38499172C>TCA405667286RYR1c.6956C>T (p.Pro2319Leu)
c.6953C>T (p.Pro2318Leu)
c.408C>T
n.7039C>T
19g.38499173A>CCA507243178RYR1c.6957A>C (p.Pro2319=)
c.6954A>C (p.Pro2318=)
c.409A>C
n.7040A>C
 gnomAD v4
19g.38499173A>GCA507243180RYR1c.6957A>G (p.Pro2319=)
c.6954A>G (p.Pro2318=)
c.409A>G
n.7040A>G
19g.38499173A>TCA507243179RYR1c.6957A>T (p.Pro2319=)
c.6954A>T (p.Pro2318=)
c.409A>T
n.7040A>T
19g.38499174G>ACA405667288RYR1c.6958G>A (p.Asp2320Asn)
c.6955G>A (p.Asp2319Asn)
c.410G>A
n.7041G>A
19g.38499174G>CCA405667290RYR1c.6958G>C (p.Asp2320His)
c.6955G>C (p.Asp2319His)
c.410G>C
n.7041G>C
19g.38499174G>TCA405667289RYR1c.6958G>T (p.Asp2320Tyr)
c.6955G>T (p.Asp2319Tyr)
c.410G>T
n.7041G>T
19g.38499175A=CA2335052615RYR1c.6959A= (p.Asp2320=)
c.6956A= (p.Asp2319=)
c.411A=
n.7042A=
19g.38499175A>CCA405667292RYR1c.6959A>C (p.Asp2320Ala)
c.6956A>C (p.Asp2319Ala)
c.411A>C
n.7042A>C
19g.38499175A>GCA068941RYR1c.6959A>G (p.Asp2320Gly)
c.6956A>G (p.Asp2319Gly)
c.411A>G
n.7042A>G
 dbSNP ExAC gnomAD v2
19g.38499175A>TCA405667295RYR1c.6959A>T (p.Asp2320Val)
c.6956A>T (p.Asp2319Val)
c.411A>T
n.7042A>T
19g.38499176C>ACA405667296RYR1c.6960C>A (p.Asp2320Glu)
c.6957C>A (p.Asp2319Glu)
c.412C>A
n.7043C>A
19g.38499176C=CA2335052616RYR1c.6960C= (p.Asp2320=)
c.6957C= (p.Asp2319=)
c.412C=
n.7043C=
19g.38499176C>GCA405667297RYR1c.6960C>G (p.Asp2320Glu)
c.6957C>G (p.Asp2319Glu)
c.412C>G
n.7043C>G
19g.38499176C>TCA507243181RYR1c.6960C>T (p.Asp2320=)
c.6957C>T (p.Asp2319=)
c.412C>T
n.7043C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38499177A=CA2335052617RYR1c.6961A= (p.Ile2321=)
c.6958A= (p.Ile2320=)
c.413A=
n.7044A=
19g.38499177A>CCA405667299RYR1c.6961A>C (p.Ile2321Leu)
c.6958A>C (p.Ile2320Leu)
c.413A>C
n.7044A>C
19g.38499177A>GCA024659RYR1c.6961A>G (p.Ile2321Val)
c.6958A>G (p.Ile2320Val)
c.413A>G
n.7044A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499177A>TCA405667302RYR1c.6961A>T (p.Ile2321Phe)
c.6958A>T (p.Ile2320Phe)
c.413A>T
n.7044A>T
 ClinVar dbSNP
19g.38499178T>ACA405667303RYR1c.6962T>A (p.Ile2321Asn)
c.6959T>A (p.Ile2320Asn)
c.414T>A
n.7045T>A
 gnomAD v4
19g.38499178T>CCA068944RYR1c.6962T>C (p.Ile2321Thr)
c.6959T>C (p.Ile2320Thr)
c.414T>C
n.7045T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499178T>GCA405667305RYR1c.6962T>G (p.Ile2321Ser)
c.6959T>G (p.Ile2320Ser)
c.414T>G
n.7045T>G
19g.38499178T=CA2335052618RYR1c.6962T= (p.Ile2321=)
c.6959T= (p.Ile2320=)
c.414T=
n.7045T=
19g.38499179T>ACA507243185RYR1c.6963T>A (p.Ile2321=)
c.6960T>A (p.Ile2320=)
c.415T>A
n.7046T>A
19g.38499179T>CCA507243187RYR1c.6963T>C (p.Ile2321=)
c.6960T>C (p.Ile2320=)
c.415T>C
n.7046T>C
19g.38499179T>GCA405667306RYR1c.6963T>G (p.Ile2321Met)
c.6960T>G (p.Ile2320Met)
c.415T>G
n.7046T>G
19g.38499180G>ACA405667308RYR1c.6964G>A (p.Gly2322Ser)
c.6961G>A (p.Gly2321Ser)
c.416G>A
n.7047G>A
 gnomAD v4
19g.38499180G>CCA405667309RYR1c.6964G>C (p.Gly2322Arg)
c.6961G>C (p.Gly2321Arg)
c.416G>C
n.7047G>C
19g.38499180G>TCA405667307RYR1c.6964G>T (p.Gly2322Cys)
c.6961G>T (p.Gly2321Cys)
c.416G>T
n.7047G>T
19g.38499181G>ACA405667311RYR1c.6965G>A (p.Gly2322Asp)
c.6962G>A (p.Gly2321Asp)
c.417G>A
n.7048G>A
19g.38499181G>CCA405667310RYR1c.6965G>C (p.Gly2322Ala)
c.6962G>C (p.Gly2321Ala)
c.417G>C
n.7048G>C
19g.38499181G>TCA405667313RYR1c.6965G>T (p.Gly2322Val)
c.6962G>T (p.Gly2321Val)
c.417G>T
n.7048G>T
19g.38499182C>ACA507243189RYR1c.6966C>A (p.Gly2322=)
c.6963C>A (p.Gly2321=)
c.418C>A
n.7049C>A
19g.38499182C>GCA507243190RYR1c.6966C>G (p.Gly2322=)
c.6963C>G (p.Gly2321=)
c.418C>G
n.7049C>G
19g.38499182C>TCA507243192RYR1c.6966C>T (p.Gly2322=)
c.6963C>T (p.Gly2321=)
c.418C>T
n.7049C>T
19g.38499183T>ACA405667314RYR1c.6967T>A (p.Trp2323Arg)
c.6964T>A (p.Trp2322Arg)
c.419T>A
n.7050T>A
19g.38499183T>CCA405667318RYR1c.6967T>C (p.Trp2323Arg)
c.6964T>C (p.Trp2322Arg)
c.419T>C
n.7050T>C
19g.38499183T>GCA405667316RYR1c.6967T>G (p.Trp2323Gly)
c.6964T>G (p.Trp2322Gly)
c.419T>G
n.7050T>G
19g.38499183T=CA2335052619RYR1c.6967T= (p.Trp2323=)
c.6964T= (p.Trp2322=)
c.419T=
n.7050T=
19g.38499184G>ACA405667320RYR1c.6968G>A (p.Trp2323Ter)
c.6965G>A (p.Trp2322Ter)
c.420G>A
n.7051G>A
19g.38499184G>CCA405667321RYR1c.6968G>C (p.Trp2323Ser)
c.6965G>C (p.Trp2322Ser)
c.420G>C
n.7051G>C
 dbSNP
19g.38499184G=CA2335052620RYR1c.6968G= (p.Trp2323=)
c.6965G= (p.Trp2322=)
c.420G=
n.7051G=
19g.38499184G>TCA405667322RYR1c.6968G>T (p.Trp2323Leu)
c.6965G>T (p.Trp2322Leu)
c.420G>T
n.7051G>T
19g.38499185dupCA308107300RYR1c.6969dup (p.Asn2324GlufsTer?)
c.6966dup (p.Asn2323GlufsTer?)
c.421dup
n.7052dup
 dbSNP
19g.38499185G>ACA405667323RYR1c.6969G>A (p.Trp2323Ter)
c.6966G>A (p.Trp2322Ter)
c.421G>A
n.7052G>A
19g.38499185G>CCA405667325RYR1c.6969G>C (p.Trp2323Cys)
c.6966G>C (p.Trp2322Cys)
c.421G>C
n.7052G>C
19g.38499185G>TCA405667326RYR1c.6969G>T (p.Trp2323Cys)
c.6966G>T (p.Trp2322Cys)
c.421G>T
n.7052G>T
19g.38499186A=CA2335052621RYR1c.6970A= (p.Asn2324=)
c.6967A= (p.Asn2323=)
c.422A=
n.7053A=
19g.38499186A>CCA405667328RYR1c.6970A>C (p.Asn2324His)
c.6967A>C (p.Asn2323His)
c.422A>C
n.7053A>C
19g.38499186A>GCA068948RYR1c.6970A>G (p.Asn2324Asp)
c.6967A>G (p.Asn2323Asp)
c.422A>G
n.7053A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499186A>TCA405667330RYR1c.6970A>T (p.Asn2324Tyr)
c.6967A>T (p.Asn2323Tyr)
c.422A>T
n.7053A>T
19g.38499187A=CA2335052622RYR1c.6971A= (p.Asn2324=)
c.6968A= (p.Asn2323=)
c.423A=
n.7054A=
19g.38499187A>CCA405667334RYR1c.6971A>C (p.Asn2324Thr)
c.6968A>C (p.Asn2323Thr)
c.423A>C
n.7054A>C
19g.38499187A>GCA068953RYR1c.6971A>G (p.Asn2324Ser)
c.6968A>G (p.Asn2323Ser)
c.423A>G
n.7054A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499187A>TCA405667332RYR1c.6971A>T (p.Asn2324Ile)
c.6968A>T (p.Asn2323Ile)
c.423A>T
n.7054A>T
19g.38499188C>ACA405667336RYR1c.6972C>A (p.Asn2324Lys)
c.6969C>A (p.Asn2323Lys)
c.424C>A
n.7055C>A
 ClinVar
19g.38499188C=CA2335052623RYR1c.6972C= (p.Asn2324=)
c.6969C= (p.Asn2323=)
c.424C=
n.7055C=
19g.38499188C>GCA405667338RYR1c.6972C>G (p.Asn2324Lys)
c.6969C>G (p.Asn2323Lys)
c.424C>G
n.7055C>G
19g.38499188C>TCA308107306RYR1c.6972C>T (p.Asn2324=)
c.6969C>T (p.Asn2323=)
c.424C>T
n.7055C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38499189C>ACA405667339RYR1c.6973C>A (p.Pro2325Thr)
c.6970C>A (p.Pro2324Thr)
c.425C>A
n.7056C>A
19g.38499189C>GCA405667340RYR1c.6973C>G (p.Pro2325Ala)
c.6970C>G (p.Pro2324Ala)
c.425C>G
n.7056C>G
19g.38499189C>TCA405667342RYR1c.6973C>T (p.Pro2325Ser)
c.6970C>T (p.Pro2324Ser)
c.425C>T
n.7056C>T
19g.38499190C>ACA405667344RYR1c.6974C>A (p.Pro2325His)
c.6971C>A (p.Pro2324His)
c.426C>A
n.7057C>A
19g.38499190C>GCA405667346RYR1c.6974C>G (p.Pro2325Arg)
c.6971C>G (p.Pro2324Arg)
c.426C>G
n.7057C>G
19g.38499190C>TCA405667347RYR1c.6974C>T (p.Pro2325Leu)
c.6971C>T (p.Pro2324Leu)
c.426C>T
n.7057C>T
19g.38499191C>ACA507243194RYR1c.6975C>A (p.Pro2325=)
c.6972C>A (p.Pro2324=)
c.427C>A
n.7058C>A
19g.38499191C>GCA507243196RYR1c.6975C>G (p.Pro2325=)
c.6972C>G (p.Pro2324=)
c.427C>G
n.7058C>G
19g.38499191C>TCA507243199RYR1c.6975C>T (p.Pro2325=)
c.6972C>T (p.Pro2324=)
c.427C>T
n.7058C>T
 ClinVar dbSNP gnomAD v4
19g.38499192T>ACA405667348RYR1c.6976T>A (p.Cys2326Ser)
c.6973T>A (p.Cys2325Ser)
c.428T>A
n.7059T>A
19g.38499192T>CCA405667350RYR1c.6976T>C (p.Cys2326Arg)
c.6973T>C (p.Cys2325Arg)
c.428T>C
n.7059T>C
19g.38499192T>GCA405667352RYR1c.6976T>G (p.Cys2326Gly)
c.6973T>G (p.Cys2325Gly)
c.428T>G
n.7059T>G
19g.38499193G>ACA405667355RYR1c.6977G>A (p.Cys2326Tyr)
c.6974G>A (p.Cys2325Tyr)
c.429G>A
n.7060G>A
19g.38499193G>CCA405667356RYR1c.6977G>C (p.Cys2326Ser)
c.6974G>C (p.Cys2325Ser)
c.429G>C
n.7060G>C
 dbSNP gnomAD v4
19g.38499193G>TCA405667354RYR1c.6977G>T (p.Cys2326Phe)
c.6974G>T (p.Cys2325Phe)
c.429G>T
n.7060G>T
19g.38499194T>ACA405667358RYR1c.6978T>A (p.Cys2326Ter)
c.6975T>A (p.Cys2325Ter)
c.430T>A
n.7061T>A
19g.38499194T>CCA507243203RYR1c.6978T>C (p.Cys2326=)
c.6975T>C (p.Cys2325=)
c.430T>C
n.7061T>C
 dbSNP
19g.38499194T>GCA405667360RYR1c.6978T>G (p.Cys2326Trp)
c.6975T>G (p.Cys2325Trp)
c.430T>G
n.7061T>G
19g.38499194T=CA2335052624RYR1c.6978T= (p.Cys2326=)
c.6975T= (p.Cys2325=)
c.430T=
n.7061T=
19g.38499195G>ACA405667361RYR1c.6979G>A (p.Gly2327Ser)
c.6976G>A (p.Gly2326Ser)
c.431G>A
n.7062G>A
19g.38499195G>CCA405667363RYR1c.6979G>C (p.Gly2327Arg)
c.6976G>C (p.Gly2326Arg)
c.431G>C
n.7062G>C
19g.38499195G>TCA405667364RYR1c.6979G>T (p.Gly2327Cys)
c.6976G>T (p.Gly2326Cys)
c.431G>T
n.7062G>T
19g.38499196G>ACA405667365RYR1c.6980G>A (p.Gly2327Asp)
c.6977G>A (p.Gly2326Asp)
c.432G>A
n.7063G>A
19g.38499196G>CCA405667366RYR1c.6980G>C (p.Gly2327Ala)
c.6977G>C (p.Gly2326Ala)
c.432G>C
n.7063G>C
19g.38499196G>TCA405667367RYR1c.6980G>T (p.Gly2327Val)
c.6977G>T (p.Gly2326Val)
c.432G>T
n.7063G>T
19g.38499197T>ACA507243205RYR1c.6981T>A (p.Gly2327=)
c.6978T>A (p.Gly2326=)
c.433T>A
n.7064T>A
19g.38499197T>CCA507243207RYR1c.6981T>C (p.Gly2327=)
c.6978T>C (p.Gly2326=)
c.433T>C
n.7064T>C
19g.38499197T>GCA507243209RYR1c.6981T>G (p.Gly2327=)
c.6978T>G (p.Gly2326=)
c.433T>G
n.7064T>G
19g.38499198G>ACA405667368RYR1c.6982G>A (p.Gly2328Arg)
c.6979G>A (p.Gly2327Arg)
c.434G>A
n.7065G>A
 ClinVar dbSNP gnomAD v4
19g.38499198G>CCA405667370RYR1c.6982G>C (p.Gly2328Arg)
c.6979G>C (p.Gly2327Arg)
c.434G>C
n.7065G>C
19g.38499198G=CA2335052625RYR1c.6982G= (p.Gly2328=)
c.6979G= (p.Gly2327=)
c.434G=
n.7065G=
19g.38499198G>TCA405667372RYR1c.6982G>T (p.Gly2328Ter)
c.6979G>T (p.Gly2327Ter)
c.434G>T
n.7065G>T
19g.38499199G>ACA405667375RYR1c.6983G>A (p.Gly2328Glu)
c.6980G>A (p.Gly2327Glu)
c.435G>A
n.7066G>A
19g.38499199G>CCA405667377RYR1c.6983G>C (p.Gly2328Ala)
c.6980G>C (p.Gly2327Ala)
c.435G>C
n.7066G>C
19g.38499199G>TCA405667374RYR1c.6983G>T (p.Gly2328Val)
c.6980G>T (p.Gly2327Val)
c.435G>T
n.7066G>T
19g.38499200A>CCA507243215RYR1c.6984A>C (p.Gly2328=)
c.6981A>C (p.Gly2327=)
c.436A>C
n.7067A>C
19g.38499200A>GCA507243213RYR1c.6984A>G (p.Gly2328=)
c.6981A>G (p.Gly2327=)
c.436A>G
n.7067A>G
19g.38499200A>TCA507243214RYR1c.6984A>T (p.Gly2328=)
c.6981A>T (p.Gly2327=)
c.436A>T
n.7067A>T
19g.38499201G>ACA405667379RYR1c.6985G>A (p.Glu2329Lys)
c.6982G>A (p.Glu2328Lys)
c.437G>A
n.7068G>A
 COSMIC
19g.38499201G>CCA405667380RYR1c.6985G>C (p.Glu2329Gln)
c.6982G>C (p.Glu2328Gln)
c.437G>C
n.7068G>C
 ClinVar
19g.38499201G>TCA405667382RYR1c.6985G>T (p.Glu2329Ter)
c.6982G>T (p.Glu2328Ter)
c.437G>T
n.7068G>T
19g.38499202A>CCA405667383RYR1c.6986A>C (p.Glu2329Ala)
c.6983A>C (p.Glu2328Ala)
c.438A>C
n.7069A>C
 gnomAD v4 COSMIC
19g.38499202A>GCA405667385RYR1c.6986A>G (p.Glu2329Gly)
c.6983A>G (p.Glu2328Gly)
c.438A>G
n.7069A>G
19g.38499202A>TCA405667388RYR1c.6986A>T (p.Glu2329Val)
c.6983A>T (p.Glu2328Val)
c.438A>T
n.7069A>T
19g.38499203G>ACA507243219RYR1c.6987G>A (p.Glu2329=)
c.6984G>A (p.Glu2328=)
c.439G>A
n.7070G>A
 ClinVar
19g.38499203G>CCA405667390RYR1c.6987G>C (p.Glu2329Asp)
c.6984G>C (p.Glu2328Asp)
c.439G>C
n.7070G>C
19g.38499203G=CA2335052626RYR1c.6987G= (p.Glu2329=)
c.6984G= (p.Glu2328=)
c.439G=
n.7070G=
19g.38499203G>TCA068957RYR1c.6987G>T (p.Glu2329Asp)
c.6984G>T (p.Glu2328Asp)
c.439G>T
n.7070G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499204C>ACA405667392RYR1c.6988C>A (p.Arg2330Ser)
c.6985C>A (p.Arg2329Ser)
c.440C>A
n.7071C>A
19g.38499204C=CA2335052627RYR1c.6988C= (p.Arg2330=)
c.6985C= (p.Arg2329=)
c.440C=
n.7071C=
19g.38499204C>GCA405667394RYR1c.6988C>G (p.Arg2330Gly)
c.6985C>G (p.Arg2329Gly)
c.440C>G
n.7071C>G
19g.38499204C>TCA068962RYR1c.6988C>T (p.Arg2330Cys)
c.6985C>T (p.Arg2329Cys)
c.440C>T
n.7071C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499205G>ACA068966RYR1c.6989G>A (p.Arg2330His)
c.6986G>A (p.Arg2329His)
c.441G>A
n.7072G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499205G>CCA405667395RYR1c.6989G>C (p.Arg2330Pro)
c.6986G>C (p.Arg2329Pro)
c.441G>C
n.7072G>C
19g.38499205G=CA2335052628RYR1c.6989G= (p.Arg2330=)
c.6986G= (p.Arg2329=)
c.441G=
n.7072G=
19g.38499205G>TCA405667398RYR1c.6989G>T (p.Arg2330Leu)
c.6986G>T (p.Arg2329Leu)
c.441G>T
n.7072G>T
19g.38499206C>ACA507243222RYR1c.6990C>A (p.Arg2330=)
c.6987C>A (p.Arg2329=)
c.442C>A
n.7073C>A
19g.38499206C>GCA507243224RYR1c.6990C>G (p.Arg2330=)
c.6987C>G (p.Arg2329=)
c.442C>G
n.7073C>G
19g.38499206C>TCA507243225RYR1c.6990C>T (p.Arg2330=)
c.6987C>T (p.Arg2329=)
c.442C>T
n.7073C>T
19g.38499207T>ACA405667402RYR1c.6991T>A (p.Tyr2331Asn)
c.6988T>A (p.Tyr2330Asn)
c.443T>A
n.7074T>A
19g.38499207T>CCA405667404RYR1c.6991T>C (p.Tyr2331His)
c.6988T>C (p.Tyr2330His)
c.443T>C
n.7074T>C
19g.38499207T>GCA405667401RYR1c.6991T>G (p.Tyr2331Asp)
c.6988T>G (p.Tyr2330Asp)
c.443T>G
n.7074T>G
19g.38499208A>CCA405667410RYR1c.6992A>C (p.Tyr2331Ser)
c.6989A>C (p.Tyr2330Ser)
c.444A>C
n.7075A>C
19g.38499208A>GCA405667405RYR1c.6992A>G (p.Tyr2331Cys)
c.6989A>G (p.Tyr2330Cys)
c.444A>G
n.7075A>G
19g.38499208A>TCA405667408RYR1c.6992A>T (p.Tyr2331Phe)
c.6989A>T (p.Tyr2330Phe)
c.444A>T
n.7075A>T
19g.38499209C>ACA405667411RYR1c.6993C>A (p.Tyr2331Ter)
c.6990C>A (p.Tyr2330Ter)
c.445C>A
n.7076C>A
19g.38499209C>GCA405667412RYR1c.6993C>G (p.Tyr2331Ter)
c.6990C>G (p.Tyr2330Ter)
c.445C>G
n.7076C>G
19g.38499209C>TCA507243227RYR1c.6993C>T (p.Tyr2331=)
c.6990C>T (p.Tyr2330=)
c.445C>T
n.7076C>T
 ClinVar
19g.38499210C>ACA405667414RYR1c.6994C>A (p.Leu2332Met)
c.6991C>A (p.Leu2331Met)
c.446C>A
n.7077C>A
19g.38499210C=CA2335052629RYR1c.6994C= (p.Leu2332=)
c.6991C= (p.Leu2331=)
c.446C=
n.7077C=
19g.38499210C>GCA308107315RYR1c.6994C>G (p.Leu2332Val)
c.6991C>G (p.Leu2331Val)
c.446C>G
n.7077C>G
 dbSNP
19g.38499210C>TCA507243228RYR1c.6994C>T (p.Leu2332=)
c.6991C>T (p.Leu2331=)
c.446C>T
n.7077C>T
19g.38499211T>ACA405667417RYR1c.6995T>A (p.Leu2332Gln)
c.6992T>A (p.Leu2331Gln)
c.447T>A
n.7078T>A
19g.38499211T>CCA405667418RYR1c.6995T>C (p.Leu2332Pro)
c.6992T>C (p.Leu2331Pro)
c.447T>C
n.7078T>C
19g.38499211T>GCA405667419RYR1c.6995T>G (p.Leu2332Arg)
c.6992T>G (p.Leu2331Arg)
c.447T>G
n.7078T>G
 ClinVar
19g.38499212G>ACA507243229RYR1c.6996G>A (p.Leu2332=)
c.6993G>A (p.Leu2331=)
c.448G>A
n.7079G>A
19g.38499212G>CCA507243231RYR1c.6996G>C (p.Leu2332=)
c.6993G>C (p.Leu2331=)
c.448G>C
n.7079G>C
19g.38499212G>TCA507243232RYR1c.6996G>T (p.Leu2332=)
c.6993G>T (p.Leu2331=)
c.448G>T
n.7079G>T
19g.38499213G>ACA405667420RYR1c.6997G>A (p.Asp2333Asn)
c.6994G>A (p.Asp2332Asn)
c.449G>A
n.7080G>A
19g.38499213G>CCA405667421RYR1c.6997G>C (p.Asp2333His)
c.6994G>C (p.Asp2332His)
c.449G>C
n.7080G>C
19g.38499213G>TCA405667423RYR1c.6997G>T (p.Asp2333Tyr)
c.6994G>T (p.Asp2332Tyr)
c.449G>T
n.7080G>T
19g.38499214A>CCA405667427RYR1c.6998A>C (p.Asp2333Ala)
c.6995A>C (p.Asp2332Ala)
c.450A>C
n.7081A>C
19g.38499214A>GCA405667424RYR1c.6998A>G (p.Asp2333Gly)
c.6995A>G (p.Asp2332Gly)
c.450A>G
n.7081A>G
19g.38499214A>TCA405667426RYR1c.6998A>T (p.Asp2333Val)
c.6995A>T (p.Asp2332Val)
c.450A>T
n.7081A>T
19g.38499215C>ACA405667428RYR1c.6999C>A (p.Asp2333Glu)
c.6996C>A (p.Asp2332Glu)
c.451C>A
n.7082C>A
19g.38499215C>GCA405667429RYR1c.6999C>G (p.Asp2333Glu)
c.6996C>G (p.Asp2332Glu)
c.451C>G
n.7082C>G
19g.38499215C>TCA507243236RYR1c.6999C>T (p.Asp2333=)
c.6996C>T (p.Asp2332=)
c.451C>T
n.7082C>T
19g.38499216T>ACA405667431RYR1c.7000T>A (p.Phe2334Ile)
c.6997T>A (p.Phe2333Ile)
c.452T>A
n.7083T>A
19g.38499216T>CCA405667433RYR1c.7000T>C (p.Phe2334Leu)
c.6997T>C (p.Phe2333Leu)
c.452T>C
n.7083T>C
19g.38499216T>GCA405667434RYR1c.7000T>G (p.Phe2334Val)
c.6997T>G (p.Phe2333Val)
c.452T>G
n.7083T>G
19g.38499217T>ACA405667436RYR1c.7001T>A (p.Phe2334Tyr)
c.6998T>A (p.Phe2333Tyr)
c.453T>A
n.7084T>A
 COSMIC
19g.38499217T>CCA405667438RYR1c.7001T>C (p.Phe2334Ser)
c.6998T>C (p.Phe2333Ser)
c.453T>C
n.7084T>C
19g.38499217T>GCA405667440RYR1c.7001T>G (p.Phe2334Cys)
c.6998T>G (p.Phe2333Cys)
c.453T>G
n.7084T>G
19g.38499217_38499218delinsTCCA2335052630RYR1c.7001_7002delinsTC (p.Phe2334=)
c.6998_6999delinsTC (p.Phe2333=)
c.453_454delinsTC
n.7084_7085delinsTC
19g.38499218C>ACA405667441RYR1c.7002C>A (p.Phe2334Leu)
c.6999C>A (p.Phe2333Leu)
c.454C>A
n.7085C>A
19g.38499218C=CA2335052631RYR1c.7002C= (p.Phe2334=)
c.6999C= (p.Phe2333=)
c.454C=
n.7085C=
19g.38499218C>GCA405667442RYR1c.7002C>G (p.Phe2334Leu)
c.6999C>G (p.Phe2333Leu)
c.454C>G
n.7085C>G
19g.38499218C>TCA507243239RYR1c.7002C>T (p.Phe2334=)
c.6999C>T (p.Phe2333=)
c.454C>T
n.7085C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38499219delCA920105699RYR1c.7003del (p.Leu2335CysfsTer?)
c.7000del (p.Leu2334CysfsTer?)
c.455del
n.7086del
 dbSNP
19g.38499219C>ACA405667443RYR1c.7003C>A (p.Leu2335Met)
c.7000C>A (p.Leu2334Met)
c.455C>A
n.7086C>A
19g.38499219C>GCA405667444RYR1c.7003C>G (p.Leu2335Val)
c.7000C>G (p.Leu2334Val)
c.455C>G
n.7086C>G
19g.38499219C>TCA507243240RYR1c.7003C>T (p.Leu2335=)
c.7000C>T (p.Leu2334=)
c.455C>T
n.7086C>T
 gnomAD v4
19g.38499220T>ACA405667446RYR1c.7004T>A (p.Leu2335Gln)
c.7001T>A (p.Leu2334Gln)
c.456T>A
n.7087T>A
19g.38499220T>CCA405667448RYR1c.7004T>C (p.Leu2335Pro)
c.7001T>C (p.Leu2334Pro)
c.456T>C
n.7087T>C
19g.38499220T>GCA405667445RYR1c.7004T>G (p.Leu2335Arg)
c.7001T>G (p.Leu2334Arg)
c.456T>G
n.7087T>G

Number of alleles fetched