Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38500863C>ACA405670306RYR1c.7487C>A (p.Pro2496Gln)
c.7484C>A (p.Pro2495Gln)
c.939C>A
n.7570C>A
19g.38500863C=CA2335053475RYR1c.7487C= (p.Pro2496=)
c.7484C= (p.Pro2495=)
c.939C=
n.7570C=
19g.38500863C>GCA024804RYR1c.7487C>G (p.Pro2496Arg)
c.7484C>G (p.Pro2495Arg)
c.939C>G
n.7570C>G
 ClinVar dbSNP gnomAD v4
19g.38500863C>TCA024807RYR1c.7487C>T (p.Pro2496Leu)
c.7484C>T (p.Pro2495Leu)
c.939C>T
n.7570C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500864G>ACA069727RYR1c.7488G>A (p.Pro2496=)
c.7485G>A (p.Pro2495=)
c.940G>A
n.7571G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500864G>CCA507354032RYR1c.7488G>C (p.Pro2496=)
c.7485G>C (p.Pro2495=)
c.940G>C
n.7571G>C
19g.38500864G=CA2335053476RYR1c.7488G= (p.Pro2496=)
c.7485G= (p.Pro2495=)
c.940G=
n.7571G=
19g.38500864G>TCA507354033RYR1c.7488G>T (p.Pro2496=)
c.7485G>T (p.Pro2495=)
c.940G>T
n.7571G>T
 gnomAD v4
19g.38500865G>ACA405670307RYR1c.7489G>A (p.Asp2497Asn)
c.7486G>A (p.Asp2496Asn)
c.941G>A
n.7572G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38500865G>CCA405670308RYR1c.7489G>C (p.Asp2497His)
c.7486G>C (p.Asp2496His)
c.941G>C
n.7572G>C
 ClinVar dbSNP
19g.38500865G=CA2335053477RYR1c.7489G= (p.Asp2497=)
c.7486G= (p.Asp2496=)
c.941G=
n.7572G=
19g.38500865G>TCA405670309RYR1c.7489G>T (p.Asp2497Tyr)
c.7486G>T (p.Asp2496Tyr)
c.941G>T
n.7572G>T
19g.38500866A>CCA405670310RYR1c.7490A>C (p.Asp2497Ala)
c.7487A>C (p.Asp2496Ala)
c.942A>C
n.7573A>C
19g.38500866A>GCA405670311RYR1c.7490A>G (p.Asp2497Gly)
c.7487A>G (p.Asp2496Gly)
c.942A>G
n.7573A>G
19g.38500866A>TCA405670312RYR1c.7490A>T (p.Asp2497Val)
c.7487A>T (p.Asp2496Val)
c.942A>T
n.7573A>T
19g.38500867C>ACA405670313RYR1c.7491C>A (p.Asp2497Glu)
c.7488C>A (p.Asp2496Glu)
c.943C>A
n.7574C>A
 gnomAD v4
19g.38500867C>GCA405670314RYR1c.7491C>G (p.Asp2497Glu)
c.7488C>G (p.Asp2496Glu)
c.943C>G
n.7574C>G
 gnomAD v4
19g.38500867C>TCA507354035RYR1c.7491C>T (p.Asp2497=)
c.7488C>T (p.Asp2496=)
c.943C>T
n.7574C>T
19g.38500868C>ACA405670315RYR1c.7492C>A (p.His2498Asn)
c.7489C>A (p.His2497Asn)
c.944C>A
n.7575C>A
19g.38500868C>GCA405670316RYR1c.7492C>G (p.His2498Asp)
c.7489C>G (p.His2497Asp)
c.944C>G
n.7575C>G
19g.38500868C>TCA405670317RYR1c.7492C>T (p.His2498Tyr)
c.7489C>T (p.His2497Tyr)
c.944C>T
n.7575C>T
19g.38500869A>CCA405670319RYR1c.7493A>C (p.His2498Pro)
c.7490A>C (p.His2497Pro)
c.945A>C
n.7576A>C
19g.38500869A>GCA405670320RYR1c.7493A>G (p.His2498Arg)
c.7490A>G (p.His2497Arg)
c.945A>G
n.7576A>G
 gnomAD v4
19g.38500869A>TCA405670318RYR1c.7493A>T (p.His2498Leu)
c.7490A>T (p.His2497Leu)
c.945A>T
n.7576A>T
19g.38500870C>ACA405670322RYR1c.7494C>A (p.His2498Gln)
c.7491C>A (p.His2497Gln)
c.946C>A
n.7577C>A
19g.38500870C=CA2335053478RYR1c.7494C= (p.His2498=)
c.7491C= (p.His2497=)
c.946C=
n.7577C=
19g.38500870C>GCA405670321RYR1c.7494C>G (p.His2498Gln)
c.7491C>G (p.His2497Gln)
c.946C>G
n.7577C>G
19g.38500870C>TCA069730RYR1c.7494C>T (p.His2498=)
c.7491C>T (p.His2497=)
c.946C>T
n.7577C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500871A>CCA405670323RYR1c.7495A>C (p.Lys2499Gln)
c.7492A>C (p.Lys2498Gln)
c.947A>C
n.7578A>C
19g.38500871A>GCA405670324RYR1c.7495A>G (p.Lys2499Glu)
c.7492A>G (p.Lys2498Glu)
c.947A>G
n.7578A>G
19g.38500871A>TCA405670325RYR1c.7495A>T (p.Lys2499Ter)
c.7492A>T (p.Lys2498Ter)
c.947A>T
n.7578A>T
19g.38500871_38500872dupCA2825002782RYR1c.7495_7496dup (p.Ala2500ArgfsTer?)
c.7492_7493dup (p.Ala2499ArgfsTer?)
c.947_948dup
n.7578_7579dup
 ClinVar
19g.38500872A=CA2335053479RYR1c.7496A= (p.Lys2499=)
c.7493A= (p.Lys2498=)
c.948A=
n.7579A=
19g.38500872A>CCA405670326RYR1c.7496A>C (p.Lys2499Thr)
c.7493A>C (p.Lys2498Thr)
c.948A>C
n.7579A>C
19g.38500872A>GCA405670327RYR1c.7496A>G (p.Lys2499Arg)
c.7493A>G (p.Lys2498Arg)
c.948A>G
n.7579A>G
 ClinVar dbSNP gnomAD v4
19g.38500872A>TCA405670328RYR1c.7496A>T (p.Lys2499Met)
c.7493A>T (p.Lys2498Met)
c.948A>T
n.7579A>T
19g.38500873G>ACA507354038RYR1c.7497G>A (p.Lys2499=)
c.7494G>A (p.Lys2498=)
c.949G>A
n.7580G>A
19g.38500873G>CCA405670329RYR1c.7497G>C (p.Lys2499Asn)
c.7494G>C (p.Lys2498Asn)
c.949G>C
n.7580G>C
19g.38500873G=CA2335053480RYR1c.7497G= (p.Lys2499=)
c.7494G= (p.Lys2498=)
c.949G=
n.7580G=
19g.38500873G>TCA405670330RYR1c.7497G>T (p.Lys2499Asn)
c.7494G>T (p.Lys2498Asn)
c.949G>T
n.7580G>T
 ClinVar dbSNP gnomAD v4
19g.38500874G>ACA405670331RYR1c.7498G>A (p.Ala2500Thr)
c.7495G>A (p.Ala2499Thr)
c.950G>A
n.7581G>A
 dbSNP gnomAD v4
19g.38500874G>CCA405670332RYR1c.7498G>C (p.Ala2500Pro)
c.7495G>C (p.Ala2499Pro)
c.950G>C
n.7581G>C
19g.38500874G=CA2335053481RYR1c.7498G= (p.Ala2500=)
c.7495G= (p.Ala2499=)
c.950G=
n.7581G=
19g.38500874G>TCA405670333RYR1c.7498G>T (p.Ala2500Ser)
c.7495G>T (p.Ala2499Ser)
c.950G>T
n.7581G>T
19g.38500875C>ACA405670335RYR1c.7499C>A (p.Ala2500Glu)
c.7496C>A (p.Ala2499Glu)
c.951C>A
n.7582C>A
 dbSNP gnomAD v4
19g.38500875C=CA2335053482RYR1c.7499C= (p.Ala2500=)
c.7496C= (p.Ala2499=)
c.951C=
n.7582C=
19g.38500875C>GCA405670334RYR1c.7499C>G (p.Ala2500Gly)
c.7496C>G (p.Ala2499Gly)
c.951C>G
n.7582C>G
19g.38500875C>TCA069734RYR1c.7499C>T (p.Ala2500Val)
c.7496C>T (p.Ala2499Val)
c.951C>T
n.7582C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500876G>ACA024810RYR1c.7500G>A (p.Ala2500=)
c.7497G>A (p.Ala2499=)
c.952G>A
n.7583G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500876G>CCA507354041RYR1c.7500G>C (p.Ala2500=)
c.7497G>C (p.Ala2499=)
c.952G>C
n.7583G>C
19g.38500876G=CA2335053483RYR1c.7500G= (p.Ala2500=)
c.7497G= (p.Ala2499=)
c.952G=
n.7583G=
19g.38500876G>TCA024813RYR1c.7500G>T (p.Ala2500=)
c.7497G>T (p.Ala2499=)
c.952G>T
n.7583G>T
 ClinVar dbSNP
19g.38500877T>ACA405670336RYR1c.7501T>A (p.Ser2501Thr)
c.7498T>A (p.Ser2500Thr)
c.953T>A
n.7584T>A
19g.38500877T>CCA405670337RYR1c.7501T>C (p.Ser2501Pro)
c.7498T>C (p.Ser2500Pro)
c.953T>C
n.7584T>C
 dbSNP
19g.38500877T>GCA405670338RYR1c.7501T>G (p.Ser2501Ala)
c.7498T>G (p.Ser2500Ala)
c.953T>G
n.7584T>G
19g.38500877T=CA2335053484RYR1c.7501T= (p.Ser2501=)
c.7498T= (p.Ser2500=)
c.953T=
n.7584T=
19g.38500878C>ACA405670339RYR1c.7502C>A (p.Ser2501Tyr)
c.7499C>A (p.Ser2500Tyr)
c.954C>A
n.7585C>A
19g.38500878C=CA2335053485RYR1c.7502C= (p.Ser2501=)
c.7499C= (p.Ser2500=)
c.954C=
n.7585C=
19g.38500878C>GCA405670340RYR1c.7502C>G (p.Ser2501Cys)
c.7499C>G (p.Ser2500Cys)
c.954C>G
n.7585C>G
19g.38500878C>TCA082474RYR1c.7502C>T (p.Ser2501Phe)
c.7499C>T (p.Ser2500Phe)
c.954C>T
n.7585C>T
 dbSNP COSMIC
19g.38500879C>ACA507354042RYR1c.7503C>A (p.Ser2501=)
c.7500C>A (p.Ser2500=)
c.955C>A
n.7586C>A
19g.38500879C=CA2335053486RYR1c.7503C= (p.Ser2501=)
c.7500C= (p.Ser2500=)
c.955C=
n.7586C=
19g.38500879C>GCA507354043RYR1c.7503C>G (p.Ser2501=)
c.7500C>G (p.Ser2500=)
c.955C>G
n.7586C>G
19g.38500879C>TCA507354044RYR1c.7503C>T (p.Ser2501=)
c.7500C>T (p.Ser2500=)
c.955C>T
n.7586C>T
 dbSNP gnomAD v4
19g.38500880A>CCA405670341RYR1c.7504A>C (p.Met2502Leu)
c.7501A>C (p.Met2501Leu)
c.956A>C
n.7587A>C
19g.38500880A>GCA405670342RYR1c.7504A>G (p.Met2502Val)
c.7501A>G (p.Met2501Val)
c.956A>G
n.7587A>G
19g.38500880A>TCA405670343RYR1c.7504A>T (p.Met2502Leu)
c.7501A>T (p.Met2501Leu)
c.956A>T
n.7587A>T
19g.38500881T>ACA405670345RYR1c.7505T>A (p.Met2502Lys)
c.7502T>A (p.Met2501Lys)
c.957T>A
n.7588T>A
19g.38500881T>CCA405670346RYR1c.7505T>C (p.Met2502Thr)
c.7502T>C (p.Met2501Thr)
c.957T>C
n.7588T>C
 gnomAD v4
19g.38500881T>GCA405670344RYR1c.7505T>G (p.Met2502Arg)
c.7502T>G (p.Met2501Arg)
c.957T>G
n.7588T>G
19g.38500882G>ACA405670347RYR1c.7506G>A (p.Met2502Ile)
c.7503G>A (p.Met2501Ile)
c.958G>A
n.7589G>A
19g.38500882G>CCA405670348RYR1c.7506G>C (p.Met2502Ile)
c.7503G>C (p.Met2501Ile)
c.958G>C
n.7589G>C
19g.38500882G>TCA405670349RYR1c.7506G>T (p.Met2502Ile)
c.7503G>T (p.Met2501Ile)
c.958G>T
n.7589G>T
19g.38500883G>ACA405670350RYR1c.7507G>A (p.Val2503Met)
c.7504G>A (p.Val2502Met)
c.959G>A
n.7590G>A
 gnomAD v4
19g.38500883G>CCA405670351RYR1c.7507G>C (p.Val2503Leu)
c.7504G>C (p.Val2502Leu)
c.959G>C
n.7590G>C
19g.38500883G>TCA405670352RYR1c.7507G>T (p.Val2503Leu)
c.7504G>T (p.Val2502Leu)
c.959G>T
n.7590G>T
19g.38500884T>ACA405670353RYR1c.7508T>A (p.Val2503Glu)
c.7505T>A (p.Val2502Glu)
c.960T>A
n.7591T>A
19g.38500884T>CCA069741RYR1c.7508T>C (p.Val2503Ala)
c.7505T>C (p.Val2502Ala)
c.960T>C
n.7591T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500884T>GCA405670354RYR1c.7508T>G (p.Val2503Gly)
c.7505T>G (p.Val2502Gly)
c.960T>G
n.7591T>G
19g.38500884T=CA2335053487RYR1c.7508T= (p.Val2503=)
c.7505T= (p.Val2502=)
c.960T=
n.7591T=
19g.38500885G>ACA507354049RYR1c.7509G>A (p.Val2503=)
c.7506G>A (p.Val2502=)
c.961G>A
n.7592G>A
19g.38500885G>CCA069744RYR1c.7509G>C (p.Val2503=)
c.7506G>C (p.Val2502=)
c.961G>C
n.7592G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500885G=CA2335053488RYR1c.7509G= (p.Val2503=)
c.7506G= (p.Val2502=)
c.961G=
n.7592G=
19g.38500885G>TCA507354050RYR1c.7509G>T (p.Val2503=)
c.7506G>T (p.Val2502=)
c.961G>T
n.7592G>T
19g.38500886C>ACA405670355RYR1c.7510C>A (p.Leu2504Ile)
c.7507C>A (p.Leu2503Ile)
c.962C>A
n.7593C>A
19g.38500886C>GCA405670356RYR1c.7510C>G (p.Leu2504Val)
c.7507C>G (p.Leu2503Val)
c.962C>G
n.7593C>G
19g.38500886C>TCA405670357RYR1c.7510C>T (p.Leu2504Phe)
c.7507C>T (p.Leu2503Phe)
c.962C>T
n.7593C>T
 ClinVar dbSNP
19g.38500887T>ACA405670359RYR1c.7511T>A (p.Leu2504His)
c.7508T>A (p.Leu2503His)
c.963T>A
n.7594T>A
19g.38500887T>CCA082476RYR1c.7511T>C (p.Leu2504Pro)
c.7508T>C (p.Leu2503Pro)
c.963T>C
n.7594T>C
 dbSNP
19g.38500887T>GCA405670358RYR1c.7511T>G (p.Leu2504Arg)
c.7508T>G (p.Leu2503Arg)
c.963T>G
n.7594T>G
19g.38500887T=CA2335053489RYR1c.7511T= (p.Leu2504=)
c.7508T= (p.Leu2503=)
c.963T=
n.7594T=
19g.38500888C>ACA507354051RYR1c.7512C>A (p.Leu2504=)
c.7509C>A (p.Leu2503=)
c.964C>A
n.7595C>A
19g.38500888C>GCA507354052RYR1c.7512C>G (p.Leu2504=)
c.7509C>G (p.Leu2503=)
c.964C>G
n.7595C>G
19g.38500888C>TCA507354053RYR1c.7512C>T (p.Leu2504=)
c.7509C>T (p.Leu2503=)
c.964C>T
n.7595C>T
19g.38500889T>ACA405670360RYR1c.7513T>A (p.Phe2505Ile)
c.7510T>A (p.Phe2504Ile)
c.965T>A
n.7596T>A
19g.38500889T>CCA405670361RYR1c.7513T>C (p.Phe2505Leu)
c.7510T>C (p.Phe2504Leu)
c.965T>C
n.7596T>C
 dbSNP
19g.38500889T>GCA405670362RYR1c.7513T>G (p.Phe2505Val)
c.7510T>G (p.Phe2504Val)
c.965T>G
n.7596T>G
19g.38500889T=CA2335053490RYR1c.7513T= (p.Phe2505=)
c.7510T= (p.Phe2504=)
c.965T=
n.7596T=
19g.38500890T>ACA405670363RYR1c.7514T>A (p.Phe2505Tyr)
c.7511T>A (p.Phe2504Tyr)
c.966T>A
n.7597T>A
19g.38500890T>CCA405670364RYR1c.7514T>C (p.Phe2505Ser)
c.7511T>C (p.Phe2504Ser)
c.966T>C
n.7597T>C
19g.38500890T>GCA405670365RYR1c.7514T>G (p.Phe2505Cys)
c.7511T>G (p.Phe2504Cys)
c.966T>G
n.7597T>G
19g.38500891C>ACA405670366RYR1c.7515C>A (p.Phe2505Leu)
c.7512C>A (p.Phe2504Leu)
c.967C>A
n.7598C>A
19g.38500891C>GCA405670368RYR1c.7515C>G (p.Phe2505Leu)
c.7512C>G (p.Phe2504Leu)
c.967C>G
n.7598C>G
19g.38500891C>TCA507354054RYR1c.7515C>T (p.Phe2505=)
c.7512C>T (p.Phe2504=)
c.967C>T
n.7598C>T
 ClinVar
19g.38500892C>ACA405670369RYR1c.7516C>A (p.Leu2506Met)
c.7513C>A (p.Leu2505Met)
c.968C>A
n.7599C>A
19g.38500892C>GCA405670370RYR1c.7516C>G (p.Leu2506Val)
c.7513C>G (p.Leu2505Val)
c.968C>G
n.7599C>G
19g.38500892C>TCA507354055RYR1c.7516C>T (p.Leu2506=)
c.7513C>T (p.Leu2505=)
c.968C>T
n.7599C>T
19g.38500893T>ACA405670371RYR1c.7517T>A (p.Leu2506Gln)
c.7514T>A (p.Leu2505Gln)
c.969T>A
n.7600T>A
19g.38500893T>CCA405670372RYR1c.7517T>C (p.Leu2506Pro)
c.7514T>C (p.Leu2505Pro)
c.969T>C
n.7600T>C
19g.38500893T>GCA405670373RYR1c.7517T>G (p.Leu2506Arg)
c.7514T>G (p.Leu2505Arg)
c.969T>G
n.7600T>G
19g.38500894G>ACA507354056RYR1c.7518G>A (p.Leu2506=)
c.7515G>A (p.Leu2505=)
c.970G>A
n.7601G>A
19g.38500894G>CCA507354057RYR1c.7518G>C (p.Leu2506=)
c.7515G>C (p.Leu2505=)
c.970G>C
n.7601G>C
19g.38500894G>TCA507354058RYR1c.7518G>T (p.Leu2506=)
c.7515G>T (p.Leu2505=)
c.970G>T
n.7601G>T
 COSMIC
19g.38500895G>ACA405670375RYR1c.7519G>A (p.Asp2507Asn)
c.7516G>A (p.Asp2506Asn)
c.971G>A
n.7602G>A
19g.38500895G>CCA405670376RYR1c.7519G>C (p.Asp2507His)
c.7516G>C (p.Asp2506His)
c.971G>C
n.7602G>C
19g.38500895G=CA2335053491RYR1c.7519G= (p.Asp2507=)
c.7516G= (p.Asp2506=)
c.971G=
n.7602G=
19g.38500895G>TCA405670374RYR1c.7519G>T (p.Asp2507Tyr)
c.7516G>T (p.Asp2506Tyr)
c.971G>T
n.7602G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38500896A>CCA405670377RYR1c.7520A>C (p.Asp2507Ala)
c.7517A>C (p.Asp2506Ala)
c.972A>C
n.7603A>C
19g.38500896A>GCA405670378RYR1c.7520A>G (p.Asp2507Gly)
c.7517A>G (p.Asp2506Gly)
c.972A>G
n.7603A>G
19g.38500896A>TCA405670379RYR1c.7520A>T (p.Asp2507Val)
c.7517A>T (p.Asp2506Val)
c.972A>T
n.7603A>T
19g.38500897C>ACA405670380RYR1c.7521C>A (p.Asp2507Glu)
c.7518C>A (p.Asp2506Glu)
c.973C>A
n.7604C>A
19g.38500897C=CA2335053492RYR1c.7521C= (p.Asp2507=)
c.7518C= (p.Asp2506=)
c.973C=
n.7604C=
19g.38500897C>GCA405670381RYR1c.7521C>G (p.Asp2507Glu)
c.7518C>G (p.Asp2506Glu)
c.973C>G
n.7604C>G
 ClinVar
19g.38500897C>TCA308110650RYR1c.7521C>T (p.Asp2507=)
c.7518C>T (p.Asp2506=)
c.973C>T
n.7604C>T
 dbSNP gnomAD v4 COSMIC
19g.38500898C>ACA405670382RYR1c.7522C>A (p.Arg2508Ser)
c.7519C>A (p.Arg2507Ser)
c.974C>A
n.7605C>A
19g.38500898C=CA2335053493RYR1c.7522C= (p.Arg2508=)
c.7519C= (p.Arg2507=)
c.974C=
n.7605C=
19g.38500898C>GCA024816RYR1c.7522C>G (p.Arg2508Gly)
c.7519C>G (p.Arg2507Gly)
c.974C>G
n.7605C>G
 ClinVar dbSNP
19g.38500898C>TCA024819RYR1c.7522C>T (p.Arg2508Cys)
c.7519C>T (p.Arg2507Cys)
c.974C>T
n.7605C>T
 ClinVar dbSNP gnomAD v4 COSMIC
19g.38500899G>ACA024821RYR1c.7523G>A (p.Arg2508His)
c.7520G>A (p.Arg2507His)
c.975G>A
n.7606G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38500899G>CCA405670383RYR1c.7523G>C (p.Arg2508Pro)
c.7520G>C (p.Arg2507Pro)
c.975G>C
n.7606G>C
19g.38500899G=CA2335053494RYR1c.7523G= (p.Arg2508=)
c.7520G= (p.Arg2507=)
c.975G=
n.7606G=
19g.38500899G>TCA405670384RYR1c.7523G>T (p.Arg2508Leu)
c.7520G>T (p.Arg2507Leu)
c.975G>T
n.7606G>T
 dbSNP
19g.38500900T>ACA507354063RYR1c.7524T>A (p.Arg2508=)
c.7521T>A (p.Arg2507=)
c.976T>A
n.7607T>A
19g.38500900T>CCA507354062RYR1c.7524T>C (p.Arg2508=)
c.7521T>C (p.Arg2507=)
c.976T>C
n.7607T>C
 dbSNP gnomAD v2 gnomAD v4
19g.38500900T>GCA10587318RYR1c.7524T>G (p.Arg2508=)
c.7521T>G (p.Arg2507=)
c.976T>G
n.7607T>G
 ClinVar dbSNP
19g.38500900T=CA2335053495RYR1c.7524T= (p.Arg2508=)
c.7521T= (p.Arg2507=)
c.976T=
n.7607T=
19g.38500901G>ACA405670385RYR1c.7525G>A (p.Val2509Met)
c.7522G>A (p.Val2508Met)
c.977G>A
n.7608G>A
19g.38500901G>CCA405670386RYR1c.7525G>C (p.Val2509Leu)
c.7522G>C (p.Val2508Leu)
c.977G>C
n.7608G>C
19g.38500901G>TCA405670387RYR1c.7525G>T (p.Val2509Leu)
c.7522G>T (p.Val2508Leu)
c.977G>T
n.7608G>T
19g.38500902T>ACA405670388RYR1c.7526T>A (p.Val2509Glu)
c.7523T>A (p.Val2508Glu)
c.978T>A
n.7609T>A
19g.38500902T>CCA405670390RYR1c.7526T>C (p.Val2509Ala)
c.7523T>C (p.Val2508Ala)
c.978T>C
n.7609T>C
 ClinVar gnomAD v4
19g.38500902T>GCA405670389RYR1c.7526T>G (p.Val2509Gly)
c.7523T>G (p.Val2508Gly)
c.978T>G
n.7609T>G
 ClinVar dbSNP
19g.38500903G>ACA024824RYR1c.7527G>A (p.Val2509=)
c.7524G>A (p.Val2508=)
c.979G>A
n.7610G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500903G>CCA507354065RYR1c.7527G>C (p.Val2509=)
c.7524G>C (p.Val2508=)
c.979G>C
n.7610G>C
19g.38500903G=CA2335053496RYR1c.7527G= (p.Val2509=)
c.7524G= (p.Val2508=)
c.979G=
n.7610G=
19g.38500903G>TCA507354066RYR1c.7527G>T (p.Val2509=)
c.7524G>T (p.Val2508=)
c.979G>T
n.7610G>T
19g.38500904T>ACA405670391RYR1c.7528T>A (p.Tyr2510Asn)
c.7525T>A (p.Tyr2509Asn)
c.980T>A
n.7611T>A
 gnomAD v4
19g.38500904T>CCA024827RYR1c.7528T>C (p.Tyr2510His)
c.7525T>C (p.Tyr2509His)
c.980T>C
n.7611T>C
 ClinVar dbSNP
19g.38500904T>GCA405670392RYR1c.7528T>G (p.Tyr2510Asp)
c.7525T>G (p.Tyr2509Asp)
c.980T>G
n.7611T>G
19g.38500904T=CA2335053497RYR1c.7528T= (p.Tyr2510=)
c.7525T= (p.Tyr2509=)
c.980T=
n.7611T=
19g.38500905A=CA2335053498RYR1c.7529A= (p.Tyr2510=)
c.7526A= (p.Tyr2509=)
c.981A=
n.7612A=
19g.38500905A>CCA405670393RYR1c.7529A>C (p.Tyr2510Ser)
c.7526A>C (p.Tyr2509Ser)
c.981A>C
n.7612A>C
 gnomAD v4
19g.38500905A>GCA069750RYR1c.7529A>G (p.Tyr2510Cys)
c.7526A>G (p.Tyr2509Cys)
c.981A>G
n.7612A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500905A>TCA405670394RYR1c.7529A>T (p.Tyr2510Phe)
c.7526A>T (p.Tyr2509Phe)
c.981A>T
n.7612A>T
19g.38500906T>ACA405670395RYR1c.7530T>A (p.Tyr2510Ter)
c.7527T>A (p.Tyr2509Ter)
c.982T>A
n.7613T>A
19g.38500906T>CCA507354068RYR1c.7530T>C (p.Tyr2510=)
c.7527T>C (p.Tyr2509=)
c.982T>C
n.7613T>C
 ClinVar gnomAD v4
19g.38500906T>GCA405670396RYR1c.7530T>G (p.Tyr2510Ter)
c.7527T>G (p.Tyr2509Ter)
c.982T>G
n.7613T>G
19g.38500907G>ACA405670397RYR1c.7531G>A (p.Gly2511Ser)
c.7528G>A (p.Gly2510Ser)
c.983G>A
n.7614G>A
19g.38500907G>CCA405670398RYR1c.7531G>C (p.Gly2511Arg)
c.7528G>C (p.Gly2510Arg)
c.983G>C
n.7614G>C
19g.38500907G>TCA405670399RYR1c.7531G>T (p.Gly2511Cys)
c.7528G>T (p.Gly2510Cys)
c.983G>T
n.7614G>T
19g.38500908G>ACA405670400RYR1c.7532G>A (p.Gly2511Asp)
c.7529G>A (p.Gly2510Asp)
c.984G>A
n.7615G>A
19g.38500908G>CCA405670402RYR1c.7532G>C (p.Gly2511Ala)
c.7529G>C (p.Gly2510Ala)
c.984G>C
n.7615G>C
19g.38500908G>TCA405670401RYR1c.7532G>T (p.Gly2511Val)
c.7529G>T (p.Gly2510Val)
c.984G>T
n.7615G>T
19g.38500909delCA2584900554RYR1c.7533del (p.Ile2512SerfsTer19)
c.7530del (p.Ile2511SerfsTer19)
c.985del
n.7616del
 gnomAD v4
19g.38500909C>ACA507354071RYR1c.7533C>A (p.Gly2511=)
c.7530C>A (p.Gly2510=)
c.985C>A
n.7616C>A
19g.38500909C>GCA507354072RYR1c.7533C>G (p.Gly2511=)
c.7530C>G (p.Gly2510=)
c.985C>G
n.7616C>G
19g.38500909C>TCA507354073RYR1c.7533C>T (p.Gly2511=)
c.7530C>T (p.Gly2510=)
c.985C>T
n.7616C>T
19g.38500910A>CCA405670403RYR1c.7534A>C (p.Ile2512Leu)
c.7531A>C (p.Ile2511Leu)
c.986A>C
n.7617A>C
19g.38500910A>GCA405670404RYR1c.7534A>G (p.Ile2512Val)
c.7531A>G (p.Ile2511Val)
c.986A>G
n.7617A>G
 gnomAD v4
19g.38500910A>TCA405670405RYR1c.7534A>T (p.Ile2512Phe)
c.7531A>T (p.Ile2511Phe)
c.986A>T
n.7617A>T
19g.38500911T>ACA405670406RYR1c.7535T>A (p.Ile2512Asn)
c.7532T>A (p.Ile2511Asn)
c.987T>A
n.7618T>A
19g.38500911T>CCA405670407RYR1c.7535T>C (p.Ile2512Thr)
c.7532T>C (p.Ile2511Thr)
c.987T>C
n.7618T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38500911T>GCA405670408RYR1c.7535T>G (p.Ile2512Ser)
c.7532T>G (p.Ile2511Ser)
c.987T>G
n.7618T>G
19g.38500911T=CA2335053499RYR1c.7535T= (p.Ile2512=)
c.7532T= (p.Ile2511=)
c.987T=
n.7618T=
19g.38500912C>ACA069754RYR1c.7536C>A (p.Ile2512=)
c.7533C>A (p.Ile2511=)
c.988C>A
n.7619C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500912C=CA2335053500RYR1c.7536C= (p.Ile2512=)
c.7533C= (p.Ile2511=)
c.988C=
n.7619C=
19g.38500912C>GCA405670409RYR1c.7536C>G (p.Ile2512Met)
c.7533C>G (p.Ile2511Met)
c.988C>G
n.7619C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500912C>TCA069757RYR1c.7536C>T (p.Ile2512=)
c.7533C>T (p.Ile2511=)
c.988C>T
n.7619C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38500913G>ACA405670410RYR1c.7537G>A (p.Glu2513Lys)
c.7534G>A (p.Glu2512Lys)
c.989G>A
n.7620G>A
 ClinVar dbSNP gnomAD v4
19g.38500913G>CCA405670411RYR1c.7537G>C (p.Glu2513Gln)
c.7534G>C (p.Glu2512Gln)
c.989G>C
n.7620G>C
 COSMIC
19g.38500913G=CA2335053501RYR1c.7537G= (p.Glu2513=)
c.7534G= (p.Glu2512=)
c.989G=
n.7620G=
19g.38500913G>TCA405670412RYR1c.7537G>T (p.Glu2513Ter)
c.7534G>T (p.Glu2512Ter)
c.989G>T
n.7620G>T
 COSMIC
19g.38500914A>CCA405670414RYR1c.7538A>C (p.Glu2513Ala)
c.7535A>C (p.Glu2512Ala)
c.990A>C
n.7621A>C
19g.38500914A>GCA405670415RYR1c.7538A>G (p.Glu2513Gly)
c.7535A>G (p.Glu2512Gly)
c.990A>G
n.7621A>G
19g.38500914A>TCA405670413RYR1c.7538A>T (p.Glu2513Val)
c.7535A>T (p.Glu2512Val)
c.990A>T
n.7621A>T
19g.38500915G>ACA507354061RYR1c.7539G>A (p.Glu2513=)
c.7536G>A (p.Glu2512=)
c.991G>A
n.7622G>A
 ClinVar dbSNP
19g.38500915G>CCA405670416RYR1c.7539G>C (p.Glu2513Asp)
c.7536G>C (p.Glu2512Asp)
c.991G>C
n.7622G>C
 gnomAD v4
19g.38500915G>TCA405670417RYR1c.7539G>T (p.Glu2513Asp)
c.7536G>T (p.Glu2512Asp)
c.991G>T
n.7622G>T
 COSMIC
19g.38500916A>CCA405670418RYR1c.7540A>C (p.Asn2514His)
c.7537A>C (p.Asn2513His)
c.992A>C
n.7623A>C
19g.38500916A>GCA405670419RYR1c.7540A>G (p.Asn2514Asp)
c.7537A>G (p.Asn2513Asp)
c.992A>G
n.7623A>G
19g.38500916A>TCA405670420RYR1c.7540A>T (p.Asn2514Tyr)
c.7537A>T (p.Asn2513Tyr)
c.992A>T
n.7623A>T
19g.38500917A>CCA405670423RYR1c.7541A>C (p.Asn2514Thr)
c.7538A>C (p.Asn2513Thr)
c.993A>C
n.7624A>C
 gnomAD v4
19g.38500917A>GCA405670421RYR1c.7541A>G (p.Asn2514Ser)
c.7538A>G (p.Asn2513Ser)
c.993A>G
n.7624A>G
 gnomAD v4
19g.38500917A>TCA405670422RYR1c.7541A>T (p.Asn2514Ile)
c.7538A>T (p.Asn2513Ile)
c.993A>T
n.7624A>T
19g.38500918C>ACA405670424RYR1c.7542C>A (p.Asn2514Lys)
c.7539C>A (p.Asn2513Lys)
c.994C>A
n.7625C>A
19g.38500918C>GCA405670425RYR1c.7542C>G (p.Asn2514Lys)
c.7539C>G (p.Asn2513Lys)
c.994C>G
n.7625C>G
19g.38500918C>TCA507354064RYR1c.7542C>T (p.Asn2514=)
c.7539C>T (p.Asn2513=)
c.994C>T
n.7625C>T
19g.38500919C>ACA405670426RYR1c.7543C>A (p.Gln2515Lys)
c.7540C>A (p.Gln2514Lys)
c.995C>A
n.7626C>A
 ClinVar
19g.38500919C=CA2335053502RYR1c.7543C= (p.Gln2515=)
c.7540C= (p.Gln2514=)
c.995C=
n.7626C=
19g.38500919C>GCA405670427RYR1c.7543C>G (p.Gln2515Glu)
c.7540C>G (p.Gln2514Glu)
c.995C>G
n.7626C>G
19g.38500919C>TCA405670428RYR1c.7543C>T (p.Gln2515Ter)
c.7540C>T (p.Gln2514Ter)
c.995C>T
n.7626C>T
 ClinVar dbSNP
19g.38500920A>CCA405670431RYR1c.7544A>C (p.Gln2515Pro)
c.7541A>C (p.Gln2514Pro)
c.996A>C
n.7627A>C
19g.38500920A>GCA405670430RYR1c.7544A>G (p.Gln2515Arg)
c.7541A>G (p.Gln2514Arg)
c.996A>G
n.7627A>G
19g.38500920A>TCA405670429RYR1c.7544A>T (p.Gln2515Leu)
c.7541A>T (p.Gln2514Leu)
c.996A>T
n.7627A>T
19g.38500921G>ACA507354067RYR1c.7545G>A (p.Gln2515=)
c.7542G>A (p.Gln2514=)
c.997G>A
n.7628G>A
19g.38500921G>CCA405670432RYR1c.7545G>C (p.Gln2515His)
c.7542G>C (p.Gln2514His)
c.997G>C
n.7628G>C
19g.38500921G>TCA405670433RYR1c.7545G>T (p.Gln2515His)
c.7542G>T (p.Gln2514His)
c.997G>T
n.7628G>T
19g.38500922G>ACA405670434RYR1c.7546G>A (p.Asp2516Asn)
c.7543G>A (p.Asp2515Asn)
c.998G>A
n.7629G>A
 COSMIC
19g.38500922G>CCA405670436RYR1c.7546G>C (p.Asp2516His)
c.7543G>C (p.Asp2515His)
c.998G>C
n.7629G>C
 dbSNP
19g.38500922G>TCA405670435RYR1c.7546G>T (p.Asp2516Tyr)
c.7543G>T (p.Asp2515Tyr)
c.998G>T
n.7629G>T
19g.38500923A>CCA405670437RYR1c.7547A>C (p.Asp2516Ala)
c.7544A>C (p.Asp2515Ala)
c.999A>C
n.7630A>C
19g.38500923A>GCA405670438RYR1c.7547A>G (p.Asp2516Gly)
c.7544A>G (p.Asp2515Gly)
c.999A>G
n.7630A>G
 gnomAD v4
19g.38500923A>TCA405670439RYR1c.7547A>T (p.Asp2516Val)
c.7544A>T (p.Asp2515Val)
c.999A>T
n.7630A>T
19g.38500924C>ACA405670440RYR1c.7548C>A (p.Asp2516Glu)
c.7545C>A (p.Asp2515Glu)
c.1000C>A
n.7631C>A
 ClinVar
19g.38500924C>GCA405670441RYR1c.7548C>G (p.Asp2516Glu)
c.7545C>G (p.Asp2515Glu)
c.1000C>G
n.7631C>G
 gnomAD v4
19g.38500924C>TCA507354070RYR1c.7548C>T (p.Asp2516=)
c.7545C>T (p.Asp2515=)
c.1000C>T
n.7631C>T
 gnomAD v4
19g.38500925T>ACA405670442RYR1c.7549T>A (p.Phe2517Ile)
c.7546T>A (p.Phe2516Ile)
c.1001T>A
n.7632T>A
19g.38500925T>CCA405670443RYR1c.7549T>C (p.Phe2517Leu)
c.7546T>C (p.Phe2516Leu)
c.1001T>C
n.7632T>C
19g.38500925T>GCA405670444RYR1c.7549T>G (p.Phe2517Val)
c.7546T>G (p.Phe2516Val)
c.1001T>G
n.7632T>G
19g.38500926T>ACA405670445RYR1c.7550T>A (p.Phe2517Tyr)
c.7547T>A (p.Phe2516Tyr)
c.1002T>A
n.7633T>A
19g.38500926T>CCA405670446RYR1c.7550T>C (p.Phe2517Ser)
c.7547T>C (p.Phe2516Ser)
c.1002T>C
n.7633T>C
19g.38500926T>GCA405670447RYR1c.7550T>G (p.Phe2517Cys)
c.7547T>G (p.Phe2516Cys)
c.1002T>G
n.7633T>G
19g.38500927C>ACA405670448RYR1c.7551C>A (p.Phe2517Leu)
c.7548C>A (p.Phe2516Leu)
c.1003C>A
n.7634C>A
 COSMIC
19g.38500927C>GCA405670449RYR1c.7551C>G (p.Phe2517Leu)
c.7548C>G (p.Phe2516Leu)
c.1003C>G
n.7634C>G
19g.38500927C>TCA507354074RYR1c.7551C>T (p.Phe2517=)
c.7548C>T (p.Phe2516=)
c.1003C>T
n.7634C>T
19g.38500928T>ACA405670451RYR1c.7552T>A (p.Leu2518Met)
c.7549T>A (p.Leu2517Met)
c.1004T>A
n.7635T>A
19g.38500928T>CCA308110669RYR1c.7552T>C (p.Leu2518=)
c.7549T>C (p.Leu2517=)
c.1004T>C
n.7635T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500928T>GCA405670450RYR1c.7552T>G (p.Leu2518Val)
c.7549T>G (p.Leu2517Val)
c.1004T>G
n.7635T>G
19g.38500928T=CA2335053503RYR1c.7552T= (p.Leu2518=)
c.7549T= (p.Leu2517=)
c.1004T=
n.7635T=
19g.38500929T>ACA405670452RYR1c.7553T>A (p.Leu2518Ter)
c.7550T>A (p.Leu2517Ter)
c.1005T>A
n.7636T>A
19g.38500929T>CCA405670453RYR1c.7553T>C (p.Leu2518Ser)
c.7550T>C (p.Leu2517Ser)
c.1005T>C
n.7636T>C
19g.38500929T>GCA405670454RYR1c.7553T>G (p.Leu2518Trp)
c.7550T>G (p.Leu2517Trp)
c.1005T>G
n.7636T>G
19g.38500930G>ACA507354077RYR1c.7554G>A (p.Leu2518=)
c.7551G>A (p.Leu2517=)
c.1006G>A
n.7637G>A
19g.38500930G>CCA405670455RYR1c.7554G>C (p.Leu2518Phe)
c.7551G>C (p.Leu2517Phe)
c.1006G>C
n.7637G>C
19g.38500930G>TCA405670456RYR1c.7554G>T (p.Leu2518Phe)
c.7551G>T (p.Leu2517Phe)
c.1006G>T
n.7637G>T
19g.38500931C>ACA405670457RYR1c.7555C>A (p.Leu2519Met)
c.7552C>A (p.Leu2518Met)
c.1007C>A
n.7638C>A
19g.38500931C>GCA405670458RYR1c.7555C>G (p.Leu2519Val)
c.7552C>G (p.Leu2518Val)
c.1007C>G
n.7638C>G
19g.38500931C>TCA507354079RYR1c.7555C>T (p.Leu2519=)
c.7552C>T (p.Leu2518=)
c.1007C>T
n.7638C>T
 ClinVar dbSNP gnomAD v4
19g.38500932T>ACA405670459RYR1c.7556T>A (p.Leu2519Gln)
c.7553T>A (p.Leu2518Gln)
c.1008T>A
n.7639T>A
19g.38500932T>CCA405670460RYR1c.7556T>C (p.Leu2519Pro)
c.7553T>C (p.Leu2518Pro)
c.1008T>C
n.7639T>C
19g.38500932T>GCA405670461RYR1c.7556T>G (p.Leu2519Arg)
c.7553T>G (p.Leu2518Arg)
c.1008T>G
n.7639T>G
19g.38500933G>ACA507354080RYR1c.7557G>A (p.Leu2519=)
c.7554G>A (p.Leu2518=)
c.1009G>A
n.7640G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38500933G>CCA507354081RYR1c.7557G>C (p.Leu2519=)
c.7554G>C (p.Leu2518=)
c.1009G>C
n.7640G>C
19g.38500933G=CA2335053504RYR1c.7557G= (p.Leu2519=)
c.7554G= (p.Leu2518=)
c.1009G=
n.7640G=
19g.38500933G>TCA507354082RYR1c.7557G>T (p.Leu2519=)
c.7554G>T (p.Leu2518=)
c.1009G>T
n.7640G>T
 dbSNP
19g.38500934C>ACA405670462RYR1c.7558C>A (p.His2520Asn)
c.7555C>A (p.His2519Asn)
c.1010C>A
n.7641C>A
19g.38500934C>GCA405670463RYR1c.7558C>G (p.His2520Asp)
c.7555C>G (p.His2519Asp)
c.1010C>G
n.7641C>G
19g.38500934C>TCA405670464RYR1c.7558C>T (p.His2520Tyr)
c.7555C>T (p.His2519Tyr)
c.1010C>T
n.7641C>T
19g.38500935A>CCA405670465RYR1c.7559A>C (p.His2520Pro)
c.7556A>C (p.His2519Pro)
c.1011A>C
n.7642A>C
19g.38500935A>GCA405670467RYR1c.7559A>G (p.His2520Arg)
c.7556A>G (p.His2519Arg)
c.1011A>G
n.7642A>G
 ClinVar gnomAD v4
19g.38500935A>TCA405670466RYR1c.7559A>T (p.His2520Leu)
c.7556A>T (p.His2519Leu)
c.1011A>T
n.7642A>T
19g.38500936C>ACA405670468RYR1c.7560C>A (p.His2520Gln)
c.7557C>A (p.His2519Gln)
c.1012C>A
n.7643C>A
19g.38500936C=CA2335053505RYR1c.7560C= (p.His2520=)
c.7557C= (p.His2519=)
c.1012C=
n.7643C=
19g.38500936C>GCA405670469RYR1c.7560C>G (p.His2520Gln)
c.7557C>G (p.His2519Gln)
c.1012C>G
n.7643C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500936C>TCA069762RYR1c.7560C>T (p.His2520=)
c.7557C>T (p.His2519=)
c.1012C>T
n.7643C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500937G>ACA069766RYR1c.7561G>A (p.Val2521Met)
c.7558G>A (p.Val2520Met)
c.1013G>A
n.7644G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500937G>CCA405670470RYR1c.7561G>C (p.Val2521Leu)
c.7558G>C (p.Val2520Leu)
c.1013G>C
n.7644G>C
19g.38500937G=CA2335053506RYR1c.7561G= (p.Val2521=)
c.7558G= (p.Val2520=)
c.1013G=
n.7644G=
19g.38500937G>TCA405670471RYR1c.7561G>T (p.Val2521Leu)
c.7558G>T (p.Val2520Leu)
c.1013G>T
n.7644G>T
 dbSNP
19g.38500938T>ACA405670472RYR1c.7562T>A (p.Val2521Glu)
c.7559T>A (p.Val2520Glu)
c.1014T>A
n.7645T>A
19g.38500938T>CCA405670473RYR1c.7562T>C (p.Val2521Ala)
c.7559T>C (p.Val2520Ala)
c.1014T>C
n.7645T>C
19g.38500938T>GCA405670474RYR1c.7562T>G (p.Val2521Gly)
c.7559T>G (p.Val2520Gly)
c.1014T>G
n.7645T>G
19g.38500939G>ACA507354087RYR1c.7563G>A (p.Val2521=)
c.7560G>A (p.Val2520=)
c.1015G>A
n.7646G>A
19g.38500939G>CCA507354088RYR1c.7563G>C (p.Val2521=)
c.7560G>C (p.Val2520=)
c.1015G>C
n.7646G>C
19g.38500939G>TCA507354089RYR1c.7563G>T (p.Val2521=)
c.7560G>T (p.Val2520=)
c.1015G>T
n.7646G>T
19g.38500940C>ACA405670475RYR1c.7564C>A (p.Leu2522Met)
c.7561C>A (p.Leu2521Met)
c.1016C>A
n.7647C>A
19g.38500940C>GCA405670476RYR1c.7564C>G (p.Leu2522Val)
c.7561C>G (p.Leu2521Val)
c.1016C>G
n.7647C>G
19g.38500940C>TCA507354090RYR1c.7564C>T (p.Leu2522=)
c.7561C>T (p.Leu2521=)
c.1016C>T
n.7647C>T
19g.38500941T>ACA405670479RYR1c.7565T>A (p.Leu2522Gln)
c.7562T>A (p.Leu2521Gln)
c.1017T>A
n.7648T>A
19g.38500941T>CCA405670478RYR1c.7565T>C (p.Leu2522Pro)
c.7562T>C (p.Leu2521Pro)
c.1017T>C
n.7648T>C
19g.38500941T>GCA405670477RYR1c.7565T>G (p.Leu2522Arg)
c.7562T>G (p.Leu2521Arg)
c.1017T>G
n.7648T>G
19g.38500942G>ACA507354092RYR1c.7566G>A (p.Leu2522=)
c.7563G>A (p.Leu2521=)
c.1018G>A
n.7649G>A
 COSMIC
19g.38500942G>CCA507354093RYR1c.7566G>C (p.Leu2522=)
c.7563G>C (p.Leu2521=)
c.1018G>C
n.7649G>C
19g.38500942G>TCA507354094RYR1c.7566G>T (p.Leu2522=)
c.7563G>T (p.Leu2521=)
c.1018G>T
n.7649G>T
19g.38500943G>ACA405670481RYR1c.7567G>A (p.Asp2523Asn)
c.7564G>A (p.Asp2522Asn)
c.1019G>A
n.7650G>A
19g.38500943G>CCA405670483RYR1c.7567G>C (p.Asp2523His)
c.7564G>C (p.Asp2522His)
c.1019G>C
n.7650G>C
 dbSNP gnomAD v2 gnomAD v4
19g.38500943G=CA2335053507RYR1c.7567G= (p.Asp2523=)
c.7564G= (p.Asp2522=)
c.1019G=
n.7650G=
19g.38500943G>TCA405670484RYR1c.7567G>T (p.Asp2523Tyr)
c.7564G>T (p.Asp2522Tyr)
c.1019G>T
n.7650G>T
19g.38500944A>CCA405670486RYR1c.7568A>C (p.Asp2523Ala)
c.7565A>C (p.Asp2522Ala)
c.1020A>C
n.7651A>C
19g.38500944A>GCA405670487RYR1c.7568A>G (p.Asp2523Gly)
c.7565A>G (p.Asp2522Gly)
c.1020A>G
n.7651A>G
 COSMIC
19g.38500944A>TCA405670489RYR1c.7568A>T (p.Asp2523Val)
c.7565A>T (p.Asp2522Val)
c.1020A>T
n.7651A>T
19g.38500945C>ACA405670490RYR1c.7569C>A (p.Asp2523Glu)
c.7566C>A (p.Asp2522Glu)
c.1021C>A
n.7652C>A
19g.38500945C=CA2335053508RYR1c.7569C= (p.Asp2523=)
c.7566C= (p.Asp2522=)
c.1021C=
n.7652C=
19g.38500945C>GCA405670491RYR1c.7569C>G (p.Asp2523Glu)
c.7566C>G (p.Asp2522Glu)
c.1021C>G
n.7652C>G
 ClinVar gnomAD v4
19g.38500945C>TCA069770RYR1c.7569C>T (p.Asp2523=)
c.7566C>T (p.Asp2522=)
c.1021C>T
n.7652C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38500946G>ACA405670493RYR1c.7570G>A (p.Val2524Met)
c.7567G>A (p.Val2523Met)
c.1022G>A
n.7653G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38500946G>CCA405670494RYR1c.7570G>C (p.Val2524Leu)
c.7567G>C (p.Val2523Leu)
c.1022G>C
n.7653G>C
 dbSNP COSMIC
19g.38500946G=CA2335053509RYR1c.7570G= (p.Val2524=)
c.7567G= (p.Val2523=)
c.1022G=
n.7653G=
19g.38500946G>TCA405670495RYR1c.7570G>T (p.Val2524Leu)
c.7567G>T (p.Val2523Leu)
c.1022G>T
n.7653G>T
19g.38500947T>ACA405670497RYR1c.7571T>A (p.Val2524Glu)
c.7568T>A (p.Val2523Glu)
c.1023T>A
n.7654T>A
19g.38500947T>CCA405670499RYR1c.7571T>C (p.Val2524Ala)
c.7568T>C (p.Val2523Ala)
c.1023T>C
n.7654T>C
 gnomAD v4
19g.38500947T>GCA405670496RYR1c.7571T>G (p.Val2524Gly)
c.7568T>G (p.Val2523Gly)
c.1023T>G
n.7654T>G
19g.38500948G>ACA507354099RYR1c.7572G>A (p.Val2524=)
c.7569G>A (p.Val2523=)
c.1024G>A
n.7655G>A
 gnomAD v4
19g.38500948G>CCA507354100RYR1c.7572G>C (p.Val2524=)
c.7569G>C (p.Val2523=)
c.1024G>C
n.7655G>C
19g.38500948G>TCA507354098RYR1c.7572G>T (p.Val2524=)
c.7569G>T (p.Val2523=)
c.1024G>T
n.7655G>T
19g.38500949G>ACA405670500RYR1c.7573G>A (p.Gly2525Arg)
c.7570G>A (p.Gly2524Arg)
c.1025G>A
n.7656G>A
19g.38500949G>CCA405670502RYR1c.7573G>C (p.Gly2525Arg)
c.7570G>C (p.Gly2524Arg)
c.1025G>C
n.7656G>C
19g.38500949G>TCA405670503RYR1c.7573G>T (p.Gly2525Trp)
c.7570G>T (p.Gly2524Trp)
c.1025G>T
n.7656G>T
19g.38500950G>ACA405670505RYR1c.7574G>A (p.Gly2525Glu)
c.7571G>A (p.Gly2524Glu)
c.1026G>A
n.7657G>A
19g.38500950G>CCA405670507RYR1c.7574G>C (p.Gly2525Ala)
c.7571G>C (p.Gly2524Ala)
c.1026G>C
n.7657G>C
19g.38500950G>TCA405670508RYR1c.7574G>T (p.Gly2525Val)
c.7571G>T (p.Gly2524Val)
c.1026G>T
n.7657G>T
19g.38500951G>ACA507354105RYR1c.7575G>A (p.Gly2525=)
c.7572G>A (p.Gly2524=)
c.1027G>A
n.7658G>A
19g.38500951G>CCA507354104RYR1c.7575G>C (p.Gly2525=)
c.7572G>C (p.Gly2524=)
c.1027G>C
n.7658G>C
19g.38500951G>TCA507354103RYR1c.7575G>T (p.Gly2525=)
c.7572G>T (p.Gly2524=)
c.1027G>T
n.7658G>T
19g.38500952T>ACA405670510RYR1c.7576T>A (p.Phe2526Ile)
c.7573T>A (p.Phe2525Ile)
c.1028T>A
n.7659T>A
19g.38500952T>CCA405670512RYR1c.7576T>C (p.Phe2526Leu)
c.7573T>C (p.Phe2525Leu)
c.1028T>C
n.7659T>C
 dbSNP
19g.38500952T>GCA405670513RYR1c.7576T>G (p.Phe2526Val)
c.7573T>G (p.Phe2525Val)
c.1028T>G
n.7659T>G
19g.38500952T=CA2335053510RYR1c.7576T= (p.Phe2526=)
c.7573T= (p.Phe2525=)
c.1028T=
n.7659T=
19g.38500953T>ACA405670515RYR1c.7577T>A (p.Phe2526Tyr)
c.7574T>A (p.Phe2525Tyr)
c.1029T>A
n.7660T>A
19g.38500953T>CCA405670517RYR1c.7577T>C (p.Phe2526Ser)
c.7574T>C (p.Phe2525Ser)
c.1029T>C
n.7660T>C
19g.38500953T>GCA405670518RYR1c.7577T>G (p.Phe2526Cys)
c.7574T>G (p.Phe2525Cys)
c.1029T>G
n.7660T>G
19g.38500954C>ACA405670519RYR1c.7578C>A (p.Phe2526Leu)
c.7575C>A (p.Phe2525Leu)
c.1030C>A
n.7661C>A
19g.38500954C>GCA405670520RYR1c.7578C>G (p.Phe2526Leu)
c.7575C>G (p.Phe2525Leu)
c.1030C>G
n.7661C>G
19g.38500954C>TCA507354106RYR1c.7578C>T (p.Phe2526=)
c.7575C>T (p.Phe2525=)
c.1030C>T
n.7661C>T
19g.38500955C>ACA405670523RYR1c.7579C>A (p.Leu2527Met)
c.7576C>A (p.Leu2526Met)
c.1031C>A
n.7662C>A
19g.38500955C>GCA405670522RYR1c.7579C>G (p.Leu2527Val)
c.7576C>G (p.Leu2526Val)
c.1031C>G
n.7662C>G
19g.38500955C>TCA507354107RYR1c.7579C>T (p.Leu2527=)
c.7576C>T (p.Leu2526=)
c.1031C>T
n.7662C>T
19g.38500956T>ACA405670525RYR1c.7580T>A (p.Leu2527Gln)
c.7577T>A (p.Leu2526Gln)
c.1032T>A
n.7663T>A
19g.38500956T>CCA405670526RYR1c.7580T>C (p.Leu2527Pro)
c.7577T>C (p.Leu2526Pro)
c.1032T>C
n.7663T>C
19g.38500956T>GCA405670527RYR1c.7580T>G (p.Leu2527Arg)
c.7577T>G (p.Leu2526Arg)
c.1032T>G
n.7663T>G
19g.38500957G>ACA507354108RYR1c.7581G>A (p.Leu2527=)
c.7578G>A (p.Leu2526=)
c.1033G>A
n.7664G>A
 ClinVar dbSNP gnomAD v2
19g.38500957G>CCA507354109RYR1c.7581G>C (p.Leu2527=)
c.7578G>C (p.Leu2526=)
c.1033G>C
n.7664G>C
 dbSNP
19g.38500957G=CA2335053511RYR1c.7581G= (p.Leu2527=)
c.7578G= (p.Leu2526=)
c.1033G=
n.7664G=
19g.38500957G>TCA507354110RYR1c.7581G>T (p.Leu2527=)
c.7578G>T (p.Leu2526=)
c.1033G>T
n.7664G>T
19g.38500960_38500975delCA2576770886RYR1c.7584_7599del (p.Asp2529ProfsTer17)
c.7581_7596del (p.Asp2528ProfsTer17)
c.1036_1051del
n.7667_7682del
19g.38500958C>ACA405670529RYR1c.7582C>A (p.Pro2528Thr)
c.7579C>A (p.Pro2527Thr)
c.1034C>A
n.7665C>A
19g.38500958C=CA2335053512RYR1c.7582C= (p.Pro2528=)
c.7579C= (p.Pro2527=)
c.1034C=
n.7665C=
19g.38500958C>GCA405670530RYR1c.7582C>G (p.Pro2528Ala)
c.7579C>G (p.Pro2527Ala)
c.1034C>G
n.7665C>G
19g.38500958C>TCA405670532RYR1c.7582C>T (p.Pro2528Ser)
c.7579C>T (p.Pro2527Ser)
c.1034C>T
n.7665C>T
 ClinVar dbSNP gnomAD v4
19g.38500959C>ACA405670536RYR1c.7583C>A (p.Pro2528His)
c.7580C>A (p.Pro2527His)
c.1035C>A
n.7666C>A
19g.38500959C>GCA405670533RYR1c.7583C>G (p.Pro2528Arg)
c.7580C>G (p.Pro2527Arg)
c.1035C>G
n.7666C>G
19g.38500959C>TCA405670535RYR1c.7583C>T (p.Pro2528Leu)
c.7580C>T (p.Pro2527Leu)
c.1035C>T
n.7666C>T
 COSMIC
19g.38500960C>ACA507354111RYR1c.7584C>A (p.Pro2528=)
c.7581C>A (p.Pro2527=)
c.1036C>A
n.7667C>A
19g.38500960C=CA2335053513RYR1c.7584C= (p.Pro2528=)
c.7581C= (p.Pro2527=)
c.1036C=
n.7667C=
19g.38500960C>GCA069775RYR1c.7584C>G (p.Pro2528=)
c.7581C>G (p.Pro2527=)
c.1036C>G
n.7667C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500960C>TCA024830RYR1c.7584C>T (p.Pro2528=)
c.7581C>T (p.Pro2527=)
c.1036C>T
n.7667C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500961G>ACA069782RYR1c.7585G>A (p.Asp2529Asn)
c.7582G>A (p.Asp2528Asn)
c.1037G>A
n.7668G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38500961G>CCA405670538RYR1c.7585G>C (p.Asp2529His)
c.7582G>C (p.Asp2528His)
c.1037G>C
n.7668G>C
 gnomAD v4
19g.38500961G=CA2335053514RYR1c.7585G= (p.Asp2529=)
c.7582G= (p.Asp2528=)
c.1037G=
n.7668G=
19g.38500961G>TCA405670540RYR1c.7585G>T (p.Asp2529Tyr)
c.7582G>T (p.Asp2528Tyr)
c.1037G>T
n.7668G>T
19g.38500962A>CCA405670541RYR1c.7586A>C (p.Asp2529Ala)
c.7583A>C (p.Asp2528Ala)
c.1038A>C
n.7669A>C
19g.38500962A>GCA405670544RYR1c.7586A>G (p.Asp2529Gly)
c.7583A>G (p.Asp2528Gly)
c.1038A>G
n.7669A>G
19g.38500962A>TCA405670543RYR1c.7586A>T (p.Asp2529Val)
c.7583A>T (p.Asp2528Val)
c.1038A>T
n.7669A>T
19g.38500963C>ACA405670545RYR1c.7587C>A (p.Asp2529Glu)
c.7584C>A (p.Asp2528Glu)
c.1039C>A
n.7670C>A
 COSMIC
19g.38500963C=CA2335053515RYR1c.7587C= (p.Asp2529=)
c.7584C= (p.Asp2528=)
c.1039C=
n.7670C=
19g.38500963C>GCA082485RYR1c.7587C>G (p.Asp2529Glu)
c.7584C>G (p.Asp2528Glu)
c.1039C>G
n.7670C>G
19g.38500963C>TCA082486RYR1c.7587C>T (p.Asp2529=)
c.7584C>T (p.Asp2528=)
c.1039C>T
n.7670C>T
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched