Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38502543_38502549delinsAACCGCTCA2335053833RYR1c.7651_7657delinsAACCGCT (p.Asn2551=)
c.7648_7654delinsAACCGCT (p.Asn2550=)
c.1103_1109delinsAACCGCT
n.7734_7740delinsAACCGCT
19g.38502547_38502552delCA891863026RYR1c.7655_7660del (p.Arg2552_Tyr2553del)
c.7652_7657del (p.Arg2551_Tyr2552del)
c.1107_1112del
n.7738_7743del
 ClinVar dbSNP
19g.38502546_38502549dupCA2335053850RYR1c.7654_7657dup (p.Tyr2553SerfsTer?)
c.7651_7654dup (p.Tyr2552SerfsTer?)
c.1106_1109dup
n.7737_7740dup
 dbSNP
19g.38502549T>ACA405671503RYR1c.7657T>A (p.Tyr2553Asn)
c.7654T>A (p.Tyr2552Asn)
c.1109T>A
n.7740T>A
19g.38502549T>CCA405671505RYR1c.7657T>C (p.Tyr2553His)
c.7654T>C (p.Tyr2552His)
c.1109T>C
n.7740T>C
 dbSNP gnomAD v3 gnomAD v4
19g.38502549T>GCA405671508RYR1c.7657T>G (p.Tyr2553Asp)
c.7654T>G (p.Tyr2552Asp)
c.1109T>G
n.7740T>G
19g.38502549T=CA2335053854RYR1c.7657T= (p.Tyr2553=)
c.7654T= (p.Tyr2552=)
c.1109T=
n.7740T=
19g.38502550A>CCA405671516RYR1c.7658A>C (p.Tyr2553Ser)
c.7655A>C (p.Tyr2552Ser)
c.1110A>C
n.7741A>C
 COSMIC
19g.38502550A>GCA405671513RYR1c.7658A>G (p.Tyr2553Cys)
c.7655A>G (p.Tyr2552Cys)
c.1110A>G
n.7741A>G
19g.38502550A>TCA405671511RYR1c.7658A>T (p.Tyr2553Phe)
c.7655A>T (p.Tyr2552Phe)
c.1110A>T
n.7741A>T
19g.38502551C>ACA082498RYR1c.7659C>A (p.Tyr2553Ter)
c.7656C>A (p.Tyr2552Ter)
c.1111C>A
n.7742C>A
19g.38502551C=CA2335053857RYR1c.7659C= (p.Tyr2553=)
c.7656C= (p.Tyr2552=)
c.1111C=
n.7742C=
19g.38502551C>GCA405671518RYR1c.7659C>G (p.Tyr2553Ter)
c.7656C>G (p.Tyr2552Ter)
c.1111C>G
n.7742C>G
19g.38502551C>TCA069929RYR1c.7659C>T (p.Tyr2553=)
c.7656C>T (p.Tyr2552=)
c.1111C>T
n.7742C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502552C>ACA405671521RYR1c.7660C>A (p.Leu2554Met)
c.7657C>A (p.Leu2553Met)
c.1112C>A
n.7743C>A
 gnomAD v4
19g.38502552C=CA2335053861RYR1c.7660C= (p.Leu2554=)
c.7657C= (p.Leu2553=)
c.1112C=
n.7743C=
19g.38502552C>GCA405671524RYR1c.7660C>G (p.Leu2554Val)
c.7657C>G (p.Leu2553Val)
c.1112C>G
n.7743C>G
 gnomAD v4
19g.38502552C>TCA507243715RYR1c.7660C>T (p.Leu2554=)
c.7657C>T (p.Leu2553=)
c.1112C>T
n.7743C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502553T>ACA405671525RYR1c.7661T>A (p.Leu2554Gln)
c.7658T>A (p.Leu2553Gln)
c.1113T>A
n.7744T>A
19g.38502553T>CCA405671527RYR1c.7661T>C (p.Leu2554Pro)
c.7658T>C (p.Leu2553Pro)
c.1113T>C
n.7744T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502553T>GCA405671529RYR1c.7661T>G (p.Leu2554Arg)
c.7658T>G (p.Leu2553Arg)
c.1113T>G
n.7744T>G
19g.38502553T=CA2335053864RYR1c.7661T= (p.Leu2554=)
c.7658T= (p.Leu2553=)
c.1113T=
n.7744T=
19g.38502554G>ACA507243716RYR1c.7662G>A (p.Leu2554=)
c.7659G>A (p.Leu2553=)
c.1114G>A
n.7745G>A
 ClinVar dbSNP
19g.38502554G>CCA507243717RYR1c.7662G>C (p.Leu2554=)
c.7659G>C (p.Leu2553=)
c.1114G>C
n.7745G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502554G=CA2335053867RYR1c.7662G= (p.Leu2554=)
c.7659G= (p.Leu2553=)
c.1114G=
n.7745G=
19g.38502554G>TCA507243718RYR1c.7662G>T (p.Leu2554=)
c.7659G>T (p.Leu2553=)
c.1114G>T
n.7745G>T
 gnomAD v4
19g.38502555T>ACA405671531RYR1c.7663T>A (p.Cys2555Ser)
c.7660T>A (p.Cys2554Ser)
c.1115T>A
n.7746T>A
19g.38502555T>CCA405671535RYR1c.7663T>C (p.Cys2555Arg)
c.7660T>C (p.Cys2554Arg)
c.1115T>C
n.7746T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502555T>GCA405671533RYR1c.7663T>G (p.Cys2555Gly)
c.7660T>G (p.Cys2554Gly)
c.1115T>G
n.7746T>G
 ClinVar dbSNP
19g.38502555T=CA2335053873RYR1c.7663T= (p.Cys2555=)
c.7660T= (p.Cys2554=)
c.1115T=
n.7746T=
19g.38502556G>ACA405671537RYR1c.7664G>A (p.Cys2555Tyr)
c.7661G>A (p.Cys2554Tyr)
c.1116G>A
n.7747G>A
19g.38502556G>CCA405671538RYR1c.7664G>C (p.Cys2555Ser)
c.7661G>C (p.Cys2554Ser)
c.1116G>C
n.7747G>C
19g.38502556G=CA2335053877RYR1c.7664G= (p.Cys2555=)
c.7661G= (p.Cys2554=)
c.1116G=
n.7747G=
19g.38502556G>TCA405671540RYR1c.7664G>T (p.Cys2555Phe)
c.7661G>T (p.Cys2554Phe)
c.1116G>T
n.7747G>T
 dbSNP gnomAD v4
19g.38502557C>ACA405671542RYR1c.7665C>A (p.Cys2555Ter)
c.7662C>A (p.Cys2554Ter)
c.1117C>A
n.7748C>A
19g.38502557C=CA2335053880RYR1c.7665C= (p.Cys2555=)
c.7662C= (p.Cys2554=)
c.1117C=
n.7748C=
19g.38502557C>GCA405671545RYR1c.7665C>G (p.Cys2555Trp)
c.7662C>G (p.Cys2554Trp)
c.1117C>G
n.7748C>G
 gnomAD v4
19g.38502557C>TCA507243719RYR1c.7665C>T (p.Cys2555=)
c.7662C>T (p.Cys2554=)
c.1117C>T
n.7748C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38502558C>ACA405671546RYR1c.7666C>A (p.Leu2556Met)
c.7663C>A (p.Leu2555Met)
c.1118C>A
n.7749C>A
19g.38502558C=CA2335053882RYR1c.7666C= (p.Leu2556=)
c.7663C= (p.Leu2555=)
c.1118C=
n.7749C=
19g.38502558C>GCA405671547RYR1c.7666C>G (p.Leu2556Val)
c.7663C>G (p.Leu2555Val)
c.1118C>G
n.7749C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502558C>TCA069936RYR1c.7666C>T (p.Leu2556=)
c.7663C>T (p.Leu2555=)
c.1118C>T
n.7749C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502559T>ACA405671548RYR1c.7667T>A (p.Leu2556Gln)
c.7664T>A (p.Leu2555Gln)
c.1119T>A
n.7750T>A
19g.38502559T>CCA405671549RYR1c.7667T>C (p.Leu2556Pro)
c.7664T>C (p.Leu2555Pro)
c.1119T>C
n.7750T>C
19g.38502559T>GCA405671550RYR1c.7667T>G (p.Leu2556Arg)
c.7664T>G (p.Leu2555Arg)
c.1119T>G
n.7750T>G
19g.38502560G>ACA069940RYR1c.7668G>A (p.Leu2556=)
c.7665G>A (p.Leu2555=)
c.1120G>A
n.7751G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502560G>CCA507243721RYR1c.7668G>C (p.Leu2556=)
c.7665G>C (p.Leu2555=)
c.1120G>C
n.7751G>C
19g.38502560G=CA2335053885RYR1c.7668G= (p.Leu2556=)
c.7665G= (p.Leu2555=)
c.1120G=
n.7751G=
19g.38502560G>TCA507243720RYR1c.7668G>T (p.Leu2556=)
c.7665G>T (p.Leu2555=)
c.1120G>T
n.7751G>T
 ClinVar dbSNP gnomAD v4
19g.38502561G>ACA405671551RYR1c.7669G>A (p.Ala2557Thr)
c.7666G>A (p.Ala2556Thr)
c.1121G>A
n.7752G>A
 gnomAD v4
19g.38502561G>CCA405671552RYR1c.7669G>C (p.Ala2557Pro)
c.7666G>C (p.Ala2556Pro)
c.1121G>C
n.7752G>C
19g.38502561G>TCA405671553RYR1c.7669G>T (p.Ala2557Ser)
c.7666G>T (p.Ala2556Ser)
c.1121G>T
n.7752G>T
 gnomAD v4
19g.38502562C>ACA405671554RYR1c.7670C>A (p.Ala2557Asp)
c.7667C>A (p.Ala2556Asp)
c.1122C>A
n.7753C>A
 dbSNP gnomAD v4
19g.38502562C=CA2335053887RYR1c.7670C= (p.Ala2557=)
c.7667C= (p.Ala2556=)
c.1122C=
n.7753C=
19g.38502562C>GCA405671555RYR1c.7670C>G (p.Ala2557Gly)
c.7667C>G (p.Ala2556Gly)
c.1122C>G
n.7753C>G
19g.38502562C>TCA405671556RYR1c.7670C>T (p.Ala2557Val)
c.7667C>T (p.Ala2556Val)
c.1122C>T
n.7753C>T
 ClinVar COSMIC
19g.38502563C>ACA507243722RYR1c.7671C>A (p.Ala2557=)
c.7668C>A (p.Ala2556=)
c.1123C>A
n.7754C>A
19g.38502563C=CA2335053889RYR1c.7671C= (p.Ala2557=)
c.7668C= (p.Ala2556=)
c.1123C=
n.7754C=
19g.38502563C>GCA507243723RYR1c.7671C>G (p.Ala2557=)
c.7668C>G (p.Ala2556=)
c.1123C>G
n.7754C>G
 dbSNP gnomAD v2 gnomAD v4
19g.38502563C>TCA507243724RYR1c.7671C>T (p.Ala2557=)
c.7668C>T (p.Ala2556=)
c.1123C>T
n.7754C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502564G>ACA069952RYR1c.7672G>A (p.Val2558Met)
c.7669G>A (p.Val2557Met)
c.1124G>A
n.7755G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502564G>CCA405671558RYR1c.7672G>C (p.Val2558Leu)
c.7669G>C (p.Val2557Leu)
c.1124G>C
n.7755G>C
 dbSNP gnomAD v2 gnomAD v4
19g.38502564G=CA2335053893RYR1c.7672G= (p.Val2558=)
c.7669G= (p.Val2557=)
c.1124G=
n.7755G=
19g.38502564G>TCA405671559RYR1c.7672G>T (p.Val2558Leu)
c.7669G>T (p.Val2557Leu)
c.1124G>T
n.7755G>T
 ClinVar COSMIC
19g.38502565T>ACA405671562RYR1c.7673T>A (p.Val2558Glu)
c.7670T>A (p.Val2557Glu)
c.1125T>A
n.7756T>A
19g.38502565T>CCA069957RYR1c.7673T>C (p.Val2558Ala)
c.7670T>C (p.Val2557Ala)
c.1125T>C
n.7756T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502565T>GCA405671564RYR1c.7673T>G (p.Val2558Gly)
c.7670T>G (p.Val2557Gly)
c.1125T>G
n.7756T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502565T=CA2335053899RYR1c.7673T= (p.Val2558=)
c.7670T= (p.Val2557=)
c.1125T=
n.7756T=
19g.38502566G>ACA507243725RYR1c.7674G>A (p.Val2558=)
c.7671G>A (p.Val2557=)
c.1126G>A
n.7757G>A
 dbSNP gnomAD v3 gnomAD v4
19g.38502566G>CCA507243726RYR1c.7674G>C (p.Val2558=)
c.7671G>C (p.Val2557=)
c.1126G>C
n.7757G>C
19g.38502566G=CA2335053900RYR1c.7674G= (p.Val2558=)
c.7671G= (p.Val2557=)
c.1126G=
n.7757G=
19g.38502566G>TCA507243727RYR1c.7674G>T (p.Val2558=)
c.7671G>T (p.Val2557=)
c.1126G>T
n.7757G>T
 gnomAD v4
19g.38502567C>ACA405671567RYR1c.7675C>A (p.Leu2559Met)
c.7672C>A (p.Leu2558Met)
c.1127C>A
n.7758C>A
19g.38502567C>GCA405671570RYR1c.7675C>G (p.Leu2559Val)
c.7672C>G (p.Leu2558Val)
c.1127C>G
n.7758C>G
 dbSNP
19g.38502567C>TCA507243728RYR1c.7675C>T (p.Leu2559=)
c.7672C>T (p.Leu2558=)
c.1127C>T
n.7758C>T
 gnomAD v4
19g.38502568T>ACA069960RYR1c.7676T>A (p.Leu2559Gln)
c.7673T>A (p.Leu2558Gln)
c.1128T>A
n.7759T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502568T>CCA082531RYR1c.7676T>C (p.Leu2559Pro)
c.7673T>C (p.Leu2558Pro)
c.1128T>C
n.7759T>C
19g.38502568T>GCA405671572RYR1c.7676T>G (p.Leu2559Arg)
c.7673T>G (p.Leu2558Arg)
c.1128T>G
n.7759T>G
 dbSNP
19g.38502568T=CA2335053904RYR1c.7676T= (p.Leu2559=)
c.7673T= (p.Leu2558=)
c.1128T=
n.7759T=
19g.38502571_38502589delCA2584900595RYR1c.7679_7697del (p.Pro2560ArgfsTer?)
c.7676_7694del (p.Pro2559ArgfsTer?)
c.1131_1149del
n.7762_7780del
 gnomAD v4
19g.38502569G>ACA507243729RYR1c.7677G>A (p.Leu2559=)
c.7674G>A (p.Leu2558=)
c.1129G>A
n.7760G>A
 ClinVar dbSNP gnomAD v4
19g.38502569G>CCA507243730RYR1c.7677G>C (p.Leu2559=)
c.7674G>C (p.Leu2558=)
c.1129G>C
n.7760G>C
19g.38502569G=CA2335053909RYR1c.7677G= (p.Leu2559=)
c.7674G= (p.Leu2558=)
c.1129G=
n.7760G=
19g.38502569G>TCA507243731RYR1c.7677G>T (p.Leu2559=)
c.7674G>T (p.Leu2558=)
c.1129G>T
n.7760G>T
 gnomAD v4
19g.38502570C>ACA405671573RYR1c.7678C>A (p.Pro2560Thr)
c.7675C>A (p.Pro2559Thr)
c.1130C>A
n.7761C>A
19g.38502570C=CA2335053911RYR1c.7678C= (p.Pro2560=)
c.7675C= (p.Pro2559=)
c.1130C=
n.7761C=
19g.38502570C>GCA405671576RYR1c.7678C>G (p.Pro2560Ala)
c.7675C>G (p.Pro2559Ala)
c.1130C>G
n.7761C>G
19g.38502570C>TCA069964RYR1c.7678C>T (p.Pro2560Ser)
c.7675C>T (p.Pro2559Ser)
c.1130C>T
n.7761C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502571C>ACA405671582RYR1c.7679C>A (p.Pro2560Gln)
c.7676C>A (p.Pro2559Gln)
c.1131C>A
n.7762C>A
19g.38502571C=CA2335053914RYR1c.7679C= (p.Pro2560=)
c.7676C= (p.Pro2559=)
c.1131C=
n.7762C=
19g.38502571C>GCA405671583RYR1c.7679C>G (p.Pro2560Arg)
c.7676C>G (p.Pro2559Arg)
c.1131C>G
n.7762C>G
 ClinVar dbSNP gnomAD v4
19g.38502571C>TCA405671586RYR1c.7679C>T (p.Pro2560Leu)
c.7676C>T (p.Pro2559Leu)
c.1131C>T
n.7762C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38502572G>ACA069972RYR1c.7680G>A (p.Pro2560=)
c.7677G>A (p.Pro2559=)
c.1132G>A
n.7763G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502572G>CCA507243732RYR1c.7680G>C (p.Pro2560=)
c.7677G>C (p.Pro2559=)
c.1132G>C
n.7763G>C
19g.38502572G=CA2335053920RYR1c.7680G= (p.Pro2560=)
c.7677G= (p.Pro2559=)
c.1132G=
n.7763G=
19g.38502572G>TCA069978RYR1c.7680G>T (p.Pro2560=)
c.7677G>T (p.Pro2559=)
c.1132G>T
n.7763G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502573C>ACA405671593RYR1c.7681C>A (p.Leu2561Ile)
c.7678C>A (p.Leu2560Ile)
c.1133C>A
n.7764C>A
19g.38502573C=CA2335053925RYR1c.7681C= (p.Leu2561=)
c.7678C= (p.Leu2560=)
c.1133C=
n.7764C=
19g.38502573C>GCA405671590RYR1c.7681C>G (p.Leu2561Val)
c.7678C>G (p.Leu2560Val)
c.1133C>G
n.7764C>G
 gnomAD v4
19g.38502573C>TCA082533RYR1c.7681C>T (p.Leu2561Phe)
c.7678C>T (p.Leu2560Phe)
c.1133C>T
n.7764C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502574T>ACA405671595RYR1c.7682T>A (p.Leu2561His)
c.7679T>A (p.Leu2560His)
c.1134T>A
n.7765T>A
19g.38502574T>CCA405671597RYR1c.7682T>C (p.Leu2561Pro)
c.7679T>C (p.Leu2560Pro)
c.1134T>C
n.7765T>C
19g.38502574T>GCA405671600RYR1c.7682T>G (p.Leu2561Arg)
c.7679T>G (p.Leu2560Arg)
c.1134T>G
n.7765T>G
19g.38502575C>ACA507243733RYR1c.7683C>A (p.Leu2561=)
c.7680C>A (p.Leu2560=)
c.1135C>A
n.7766C>A
19g.38502575C=CA2335053931RYR1c.7683C= (p.Leu2561=)
c.7680C= (p.Leu2560=)
c.1135C=
n.7766C=
19g.38502575C>GCA507243734RYR1c.7683C>G (p.Leu2561=)
c.7680C>G (p.Leu2560=)
c.1135C>G
n.7766C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502575C>TCA082535RYR1c.7683C>T (p.Leu2561=)
c.7680C>T (p.Leu2560=)
c.1135C>T
n.7766C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502576A=CA2335053936RYR1c.7684A= (p.Ile2562=)
c.7681A= (p.Ile2561=)
c.1136A=
n.7767A=
19g.38502576A>CCA405671603RYR1c.7684A>C (p.Ile2562Leu)
c.7681A>C (p.Ile2561Leu)
c.1136A>C
n.7767A>C
19g.38502576A>GCA405671604RYR1c.7684A>G (p.Ile2562Val)
c.7681A>G (p.Ile2561Val)
c.1136A>G
n.7767A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502576A>TCA405671605RYR1c.7684A>T (p.Ile2562Phe)
c.7681A>T (p.Ile2561Phe)
c.1136A>T
n.7767A>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502577T>ACA405671606RYR1c.7685T>A (p.Ile2562Asn)
c.7682T>A (p.Ile2561Asn)
c.1137T>A
n.7768T>A
19g.38502577T>CCA069984RYR1c.7685T>C (p.Ile2562Thr)
c.7682T>C (p.Ile2561Thr)
c.1137T>C
n.7768T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502577T>GCA405671608RYR1c.7685T>G (p.Ile2562Ser)
c.7682T>G (p.Ile2561Ser)
c.1137T>G
n.7768T>G
19g.38502577T=CA2335053942RYR1c.7685T= (p.Ile2562=)
c.7682T= (p.Ile2561=)
c.1137T=
n.7768T=
19g.38502578C>ACA507243735RYR1c.7686C>A (p.Ile2562=)
c.7683C>A (p.Ile2561=)
c.1138C>A
n.7769C>A
19g.38502578C=CA2335053947RYR1c.7686C= (p.Ile2562=)
c.7683C= (p.Ile2561=)
c.1138C=
n.7769C=
19g.38502578C>GCA405671612RYR1c.7686C>G (p.Ile2562Met)
c.7683C>G (p.Ile2561Met)
c.1138C>G
n.7769C>G
19g.38502578C>TCA069989RYR1c.7686C>T (p.Ile2562=)
c.7683C>T (p.Ile2561=)
c.1138C>T
n.7769C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502579A=CA2335053951RYR1c.7687A= (p.Thr2563=)
c.7684A= (p.Thr2562=)
c.1139A=
n.7770A=
19g.38502579A>CCA405671614RYR1c.7687A>C (p.Thr2563Pro)
c.7684A>C (p.Thr2562Pro)
c.1139A>C
n.7770A>C
19g.38502579A>GCA405671617RYR1c.7687A>G (p.Thr2563Ala)
c.7684A>G (p.Thr2562Ala)
c.1139A>G
n.7770A>G
 dbSNP
19g.38502579A>TCA405671616RYR1c.7687A>T (p.Thr2563Ser)
c.7684A>T (p.Thr2562Ser)
c.1139A>T
n.7770A>T
19g.38502580C>ACA405671618RYR1c.7688C>A (p.Thr2563Asn)
c.7685C>A (p.Thr2562Asn)
c.1140C>A
n.7771C>A
19g.38502580C>GCA405671621RYR1c.7688C>G (p.Thr2563Ser)
c.7685C>G (p.Thr2562Ser)
c.1140C>G
n.7771C>G
19g.38502580C>TCA405671620RYR1c.7688C>T (p.Thr2563Ile)
c.7685C>T (p.Thr2562Ile)
c.1140C>T
n.7771C>T
 ClinVar gnomAD v4
19g.38502581C>ACA507243736RYR1c.7689C>A (p.Thr2563=)
c.7686C>A (p.Thr2562=)
c.1141C>A
n.7772C>A
19g.38502581C=CA2335053954RYR1c.7689C= (p.Thr2563=)
c.7686C= (p.Thr2562=)
c.1141C=
n.7772C=
19g.38502581C>GCA069992RYR1c.7689C>G (p.Thr2563=)
c.7686C>G (p.Thr2562=)
c.1141C>G
n.7772C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502581C>TCA082537RYR1c.7689C>T (p.Thr2563=)
c.7686C>T (p.Thr2562=)
c.1141C>T
n.7772C>T
19g.38502582A>CCA405671625RYR1c.7690A>C (p.Lys2564Gln)
c.7687A>C (p.Lys2563Gln)
c.1142A>C
n.7773A>C
19g.38502582A>GCA405671626RYR1c.7690A>G (p.Lys2564Glu)
c.7687A>G (p.Lys2563Glu)
c.1142A>G
n.7773A>G
19g.38502582A>TCA405671629RYR1c.7690A>T (p.Lys2564Ter)
c.7687A>T (p.Lys2563Ter)
c.1142A>T
n.7773A>T
19g.38502583A>CCA405671632RYR1c.7691A>C (p.Lys2564Thr)
c.7688A>C (p.Lys2563Thr)
c.1143A>C
n.7774A>C
 ClinVar
19g.38502583A>GCA405671635RYR1c.7691A>G (p.Lys2564Arg)
c.7688A>G (p.Lys2563Arg)
c.1143A>G
n.7774A>G
19g.38502583A>TCA405671638RYR1c.7691A>T (p.Lys2564Met)
c.7688A>T (p.Lys2563Met)
c.1143A>T
n.7774A>T
19g.38502584G>ACA10587319RYR1c.7692G>A (p.Lys2564=)
c.7689G>A (p.Lys2563=)
c.1144G>A
n.7775G>A
 ClinVar dbSNP gnomAD v4
19g.38502584G>CCA405671644RYR1c.7692G>C (p.Lys2564Asn)
c.7689G>C (p.Lys2563Asn)
c.1144G>C
n.7775G>C
 ClinVar dbSNP gnomAD v4
19g.38502584G=CA2335053962RYR1c.7692G= (p.Lys2564=)
c.7689G= (p.Lys2563=)
c.1144G=
n.7775G=
19g.38502584G>TCA405671646RYR1c.7692G>T (p.Lys2564Asn)
c.7689G>T (p.Lys2563Asn)
c.1144G>T
n.7775G>T
 gnomAD v4
19g.38502585T>ACA405671650RYR1c.7693T>A (p.Cys2565Ser)
c.7690T>A (p.Cys2564Ser)
c.1145T>A
n.7776T>A
 gnomAD v4
19g.38502585T>CCA405671647RYR1c.7693T>C (p.Cys2565Arg)
c.7690T>C (p.Cys2564Arg)
c.1145T>C
n.7776T>C
 gnomAD v4
19g.38502585T>GCA308111979RYR1c.7693T>G (p.Cys2565Gly)
c.7690T>G (p.Cys2564Gly)
c.1145T>G
n.7776T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502585T=CA2335053966RYR1c.7693T= (p.Cys2565=)
c.7690T= (p.Cys2564=)
c.1145T=
n.7776T=
19g.38502586G>ACA405671654RYR1c.7694G>A (p.Cys2565Tyr)
c.7691G>A (p.Cys2564Tyr)
c.1146G>A
n.7777G>A
19g.38502586G>CCA405671658RYR1c.7694G>C (p.Cys2565Ser)
c.7691G>C (p.Cys2564Ser)
c.1146G>C
n.7777G>C
19g.38502586G=CA2335053969RYR1c.7694G= (p.Cys2565=)
c.7691G= (p.Cys2564=)
c.1146G=
n.7777G=
19g.38502586G>TCA405671659RYR1c.7694G>T (p.Cys2565Phe)
c.7691G>T (p.Cys2564Phe)
c.1146G>T
n.7777G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38502587T>ACA405671663RYR1c.7695T>A (p.Cys2565Ter)
c.7692T>A (p.Cys2564Ter)
c.1147T>A
n.7778T>A
19g.38502587T>CCA507243737RYR1c.7695T>C (p.Cys2565=)
c.7692T>C (p.Cys2564=)
c.1147T>C
n.7778T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502587T>GCA070001RYR1c.7695T>G (p.Cys2565Trp)
c.7692T>G (p.Cys2564Trp)
c.1147T>G
n.7778T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502587T=CA2335053973RYR1c.7695T= (p.Cys2565=)
c.7692T= (p.Cys2564=)
c.1147T=
n.7778T=
19g.38502588G>ACA405671664RYR1c.7696G>A (p.Ala2566Thr)
c.7693G>A (p.Ala2565Thr)
c.1148G>A
n.7779G>A
 ClinVar dbSNP gnomAD v4
19g.38502588G>CCA405671666RYR1c.7696G>C (p.Ala2566Pro)
c.7693G>C (p.Ala2565Pro)
c.1148G>C
n.7779G>C
19g.38502588G=CA2335053980RYR1c.7696G= (p.Ala2566=)
c.7693G= (p.Ala2565=)
c.1148G=
n.7779G=
19g.38502588G>TCA070006RYR1c.7696G>T (p.Ala2566Ser)
c.7693G>T (p.Ala2565Ser)
c.1148G>T
n.7779G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502589C>ACA405671668RYR1c.7697C>A (p.Ala2566Glu)
c.7694C>A (p.Ala2565Glu)
c.1149C>A
n.7780C>A
19g.38502589C=CA2335053981RYR1c.7697C= (p.Ala2566=)
c.7694C= (p.Ala2565=)
c.1149C=
n.7780C=
19g.38502589C>GCA405671670RYR1c.7697C>G (p.Ala2566Gly)
c.7694C>G (p.Ala2565Gly)
c.1149C>G
n.7780C>G
19g.38502589C>TCA405671672RYR1c.7697C>T (p.Ala2566Val)
c.7694C>T (p.Ala2565Val)
c.1149C>T
n.7780C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38502590G>ACA507243738RYR1c.7698G>A (p.Ala2566=)
c.7695G>A (p.Ala2565=)
c.1150G>A
n.7781G>A
 dbSNP gnomAD v4 COSMIC
19g.38502590G>CCA070009RYR1c.7698G>C (p.Ala2566=)
c.7695G>C (p.Ala2565=)
c.1150G>C
n.7781G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502590G=CA2335053985RYR1c.7698G= (p.Ala2566=)
c.7695G= (p.Ala2565=)
c.1150G=
n.7781G=
19g.38502590G>TCA507243739RYR1c.7698G>T (p.Ala2566=)
c.7695G>T (p.Ala2565=)
c.1150G>T
n.7781G>T
 gnomAD v4
19g.38502591C>ACA405671675RYR1c.7699C>A (p.Pro2567Thr)
c.7696C>A (p.Pro2566Thr)
c.1151C>A
n.7782C>A
19g.38502591C=CA2335053989RYR1c.7699C= (p.Pro2567=)
c.7696C= (p.Pro2566=)
c.1151C=
n.7782C=
19g.38502591C>GCA405671677RYR1c.7699C>G (p.Pro2567Ala)
c.7696C>G (p.Pro2566Ala)
c.1151C>G
n.7782C>G
 ClinVar dbSNP gnomAD v4
19g.38502591C>TCA082540RYR1c.7699C>T (p.Pro2567Ser)
c.7696C>T (p.Pro2566Ser)
c.1151C>T
n.7782C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502592C>ACA405671680RYR1c.7700C>A (p.Pro2567Gln)
c.7697C>A (p.Pro2566Gln)
c.1152C>A
n.7783C>A
19g.38502592C=CA2335053994RYR1c.7700C= (p.Pro2567=)
c.7697C= (p.Pro2566=)
c.1152C=
n.7783C=
19g.38502592C>GCA405671684RYR1c.7700C>G (p.Pro2567Arg)
c.7697C>G (p.Pro2566Arg)
c.1152C>G
n.7783C>G
19g.38502592C>TCA070018RYR1c.7700C>T (p.Pro2567Leu)
c.7697C>T (p.Pro2566Leu)
c.1152C>T
n.7783C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502593G>ACA507243740RYR1c.7701G>A (p.Pro2567=)
c.7698G>A (p.Pro2566=)
c.1153G>A
n.7784G>A
 ClinVar dbSNP gnomAD v4
19g.38502593G>CCA082541RYR1c.7701G>C (p.Pro2567=)
c.7698G>C (p.Pro2566=)
c.1153G>C
n.7784G>C
19g.38502593G=CA2335053995RYR1c.7701G= (p.Pro2567=)
c.7698G= (p.Pro2566=)
c.1153G=
n.7784G=
19g.38502593G>TCA507243741RYR1c.7701G>T (p.Pro2567=)
c.7698G>T (p.Pro2566=)
c.1153G>T
n.7784G>T
 gnomAD v4
19g.38502594C>ACA405671689RYR1c.7702C>A (p.Leu2568Ile)
c.7699C>A (p.Leu2567Ile)
c.1154C>A
n.7785C>A
19g.38502594C=CA2335053998RYR1c.7702C= (p.Leu2568=)
c.7699C= (p.Leu2567=)
c.1154C=
n.7785C=
19g.38502594C>GCA405671690RYR1c.7702C>G (p.Leu2568Val)
c.7699C>G (p.Leu2567Val)
c.1154C>G
n.7785C>G
 gnomAD v4
19g.38502594C>TCA082542RYR1c.7702C>T (p.Leu2568Phe)
c.7699C>T (p.Leu2567Phe)
c.1154C>T
n.7785C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38502595T>ACA405671691RYR1c.7703T>A (p.Leu2568His)
c.7700T>A (p.Leu2567His)
c.1155T>A
n.7786T>A
19g.38502595T>CCA405671692RYR1c.7703T>C (p.Leu2568Pro)
c.7700T>C (p.Leu2567Pro)
c.1155T>C
n.7786T>C
 gnomAD v4
19g.38502595T>GCA308112015RYR1c.7703T>G (p.Leu2568Arg)
c.7700T>G (p.Leu2567Arg)
c.1155T>G
n.7786T>G
 dbSNP gnomAD v3 gnomAD v4
19g.38502595T=CA2335054001RYR1c.7703T= (p.Leu2568=)
c.7700T= (p.Leu2567=)
c.1155T=
n.7786T=
19g.38502596C>ACA507243742RYR1c.7704C>A (p.Leu2568=)
c.7701C>A (p.Leu2567=)
c.1156C>A
n.7787C>A
19g.38502596C=CA2335054005RYR1c.7704C= (p.Leu2568=)
c.7701C= (p.Leu2567=)
c.1156C=
n.7787C=
19g.38502596C>GCA507243743RYR1c.7704C>G (p.Leu2568=)
c.7701C>G (p.Leu2567=)
c.1156C>G
n.7787C>G
 dbSNP gnomAD v4
19g.38502596C>TCA308112016RYR1c.7704C>T (p.Leu2568=)
c.7701C>T (p.Leu2567=)
c.1156C>T
n.7787C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502597T>ACA405671696RYR1c.7705T>A (p.Phe2569Ile)
c.7702T>A (p.Phe2568Ile)
c.1157T>A
n.7788T>A
19g.38502597T>CCA405671697RYR1c.7705T>C (p.Phe2569Leu)
c.7702T>C (p.Phe2568Leu)
c.1157T>C
n.7788T>C
19g.38502597T>GCA405671700RYR1c.7705T>G (p.Phe2569Val)
c.7702T>G (p.Phe2568Val)
c.1157T>G
n.7788T>G
19g.38502598_38502599delCA913015954RYR1c.7706_7707del (p.Phe2569CysfsTer?)
c.7703_7704del (p.Phe2568CysfsTer?)
c.1158_1159del
n.7789_7790del
19g.38502598T>ACA405671704RYR1c.7706T>A (p.Phe2569Tyr)
c.7703T>A (p.Phe2568Tyr)
c.1158T>A
n.7789T>A
19g.38502598T>CCA070023RYR1c.7706T>C (p.Phe2569Ser)
c.7703T>C (p.Phe2568Ser)
c.1158T>C
n.7789T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502598T>GCA308112023RYR1c.7706T>G (p.Phe2569Cys)
c.7703T>G (p.Phe2568Cys)
c.1158T>G
n.7789T>G
 ClinVar dbSNP gnomAD v4
19g.38502598T=CA2335054009RYR1c.7706T= (p.Phe2569=)
c.7703T= (p.Phe2568=)
c.1158T=
n.7789T=
19g.38502599T>ACA405671708RYR1c.7707T>A (p.Phe2569Leu)
c.7704T>A (p.Phe2568Leu)
c.1159T>A
n.7790T>A
 gnomAD v4
19g.38502599T>CCA308112030RYR1c.7707T>C (p.Phe2569=)
c.7704T>C (p.Phe2568=)
c.1159T>C
n.7790T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502599T>GCA405671715RYR1c.7707T>G (p.Phe2569Leu)
c.7704T>G (p.Phe2568Leu)
c.1159T>G
n.7790T>G
19g.38502599T=CA2335054012RYR1c.7707T= (p.Phe2569=)
c.7704T= (p.Phe2568=)
c.1159T=
n.7790T=
19g.38502600G>ACA405671720RYR1c.7708G>A (p.Ala2570Thr)
c.7705G>A (p.Ala2569Thr)
c.1160G>A
n.7791G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502600G>CCA405671722RYR1c.7708G>C (p.Ala2570Pro)
c.7705G>C (p.Ala2569Pro)
c.1160G>C
n.7791G>C
 ClinVar
19g.38502600G=CA2335054014RYR1c.7708G= (p.Ala2570=)
c.7705G= (p.Ala2569=)
c.1160G=
n.7791G=
19g.38502600G>TCA405671724RYR1c.7708G>T (p.Ala2570Ser)
c.7705G>T (p.Ala2569Ser)
c.1160G>T
n.7791G>T
19g.38502601C>ACA405671728RYR1c.7709C>A (p.Ala2570Glu)
c.7706C>A (p.Ala2569Glu)
c.1161C>A
n.7792C>A
19g.38502601C=CA2335054019RYR1c.7709C= (p.Ala2570=)
c.7706C= (p.Ala2569=)
c.1161C=
n.7792C=
19g.38502601C>GCA405671730RYR1c.7709C>G (p.Ala2570Gly)
c.7706C>G (p.Ala2569Gly)
c.1161C>G
n.7792C>G
19g.38502601C>TCA070028RYR1c.7709C>T (p.Ala2570Val)
c.7706C>T (p.Ala2569Val)
c.1161C>T
n.7792C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38502602G>ACA507243745RYR1c.7710G>A (p.Ala2570=)
c.7707G>A (p.Ala2569=)
c.1162G>A
n.7793G>A
 dbSNP gnomAD v4
19g.38502602G>CCA507243747RYR1c.7710G>C (p.Ala2570=)
c.7707G>C (p.Ala2569=)
c.1162G>C
n.7793G>C
19g.38502602G=CA2335054025RYR1c.7710G= (p.Ala2570=)
c.7707G= (p.Ala2569=)
c.1162G=
n.7793G=
19g.38502602G>TCA507243746RYR1c.7710G>T (p.Ala2570=)
c.7707G>T (p.Ala2569=)
c.1162G>T
n.7793G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38502604delCA2584900596RYR1c.7712del (p.Gly2571AlafsTer?)
c.7709del (p.Gly2570AlafsTer?)
c.1164del
n.7795del
 gnomAD v4
19g.38502603G>ACA070031RYR1c.7711G>A (p.Gly2571Ser)
c.7708G>A (p.Gly2570Ser)
c.1163G>A
n.7794G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38502603G>CCA405671732RYR1c.7711G>C (p.Gly2571Arg)
c.7708G>C (p.Gly2570Arg)
c.1163G>C
n.7794G>C
19g.38502603G=CA2335054031RYR1c.7711G= (p.Gly2571=)
c.7708G= (p.Gly2570=)
c.1163G=
n.7794G=
19g.38502603G>TCA405671733RYR1c.7711G>T (p.Gly2571Cys)
c.7708G>T (p.Gly2570Cys)
c.1163G>T
n.7794G>T
 gnomAD v4
19g.38502604G>ACA070034RYR1c.7712G>A (p.Gly2571Asp)
c.7709G>A (p.Gly2570Asp)
c.1164G>A
n.7795G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502604G>CCA070039RYR1c.7712G>C (p.Gly2571Ala)
c.7709G>C (p.Gly2570Ala)
c.1164G>C
n.7795G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502604G=CA2335054036RYR1c.7712G= (p.Gly2571=)
c.7709G= (p.Gly2570=)
c.1164G=
n.7795G=
19g.38502604G>TCA405671736RYR1c.7712G>T (p.Gly2571Val)
c.7709G>T (p.Gly2570Val)
c.1164G>T
n.7795G>T
19g.38502605C>ACA507243748RYR1c.7713C>A (p.Gly2571=)
c.7710C>A (p.Gly2570=)
c.1165C>A
n.7796C>A
 dbSNP gnomAD v2
19g.38502605C=CA2335054041RYR1c.7713C= (p.Gly2571=)
c.7710C= (p.Gly2570=)
c.1165C=
n.7796C=
19g.38502605C>GCA507243749RYR1c.7713C>G (p.Gly2571=)
c.7710C>G (p.Gly2570=)
c.1165C>G
n.7796C>G
 ClinVar dbSNP gnomAD v4
19g.38502605C>TCA507243750RYR1c.7713C>T (p.Gly2571=)
c.7710C>T (p.Gly2570=)
c.1165C>T
n.7796C>T
 ClinVar dbSNP
19g.38502606A>CCA405671739RYR1c.7714A>C (p.Thr2572Pro)
c.7711A>C (p.Thr2571Pro)
c.1166A>C
n.7797A>C
19g.38502606A>GCA405671743RYR1c.7714A>G (p.Thr2572Ala)
c.7711A>G (p.Thr2571Ala)
c.1166A>G
n.7797A>G
 gnomAD v4
19g.38502606A>TCA405671741RYR1c.7714A>T (p.Thr2572Ser)
c.7711A>T (p.Thr2571Ser)
c.1166A>T
n.7797A>T
19g.38502607C>ACA405671746RYR1c.7715C>A (p.Thr2572Lys)
c.7712C>A (p.Thr2571Lys)
c.1167C>A
n.7798C>A
19g.38502607C=CA2335054044RYR1c.7715C= (p.Thr2572=)
c.7712C= (p.Thr2571=)
c.1167C=
n.7798C=
19g.38502607C>GCA405671757RYR1c.7715C>G (p.Thr2572Arg)
c.7712C>G (p.Thr2571Arg)
c.1167C>G
n.7798C>G
 dbSNP gnomAD v3 gnomAD v4
19g.38502607C>TCA070040RYR1c.7715C>T (p.Thr2572Ile)
c.7712C>T (p.Thr2571Ile)
c.1167C>T
n.7798C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502608A>CCA507243751RYR1c.7716A>C (p.Thr2572=)
c.7713A>C (p.Thr2571=)
c.1168A>C
n.7799A>C
19g.38502608A>GCA507243752RYR1c.7716A>G (p.Thr2572=)
c.7713A>G (p.Thr2571=)
c.1168A>G
n.7799A>G
 gnomAD v4
19g.38502608A>TCA507243753RYR1c.7716A>T (p.Thr2572=)
c.7713A>T (p.Thr2571=)
c.1168A>T
n.7799A>T
19g.38502609G>ACA070045RYR1c.7717G>A (p.Glu2573Lys)
c.7714G>A (p.Glu2572Lys)
c.1169G>A
n.7800G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502609G>CCA405671763RYR1c.7717G>C (p.Glu2573Gln)
c.7714G>C (p.Glu2572Gln)
c.1169G>C
n.7800G>C
 dbSNP gnomAD v4 COSMIC
19g.38502609G=CA2335054049RYR1c.7717G= (p.Glu2573=)
c.7714G= (p.Glu2572=)
c.1169G=
n.7800G=
19g.38502609G>TCA405671761RYR1c.7717G>T (p.Glu2573Ter)
c.7714G>T (p.Glu2572Ter)
c.1169G>T
n.7800G>T
 gnomAD v4
19g.38502610A=CA2335054055RYR1c.7718A= (p.Glu2573=)
c.7715A= (p.Glu2572=)
c.1170A=
n.7801A=
19g.38502610A>CCA405671767RYR1c.7718A>C (p.Glu2573Ala)
c.7715A>C (p.Glu2572Ala)
c.1170A>C
n.7801A>C
19g.38502610A>GCA070050RYR1c.7718A>G (p.Glu2573Gly)
c.7715A>G (p.Glu2572Gly)
c.1170A>G
n.7801A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502610A>TCA405671769RYR1c.7718A>T (p.Glu2573Val)
c.7715A>T (p.Glu2572Val)
c.1170A>T
n.7801A>T
19g.38502611A>CCA405671770RYR1c.7719A>C (p.Glu2573Asp)
c.7716A>C (p.Glu2572Asp)
c.1171A>C
n.7802A>C
19g.38502611A>GCA507243754RYR1c.7719A>G (p.Glu2573=)
c.7716A>G (p.Glu2572=)
c.1171A>G
n.7802A>G
 gnomAD v4
19g.38502611A>TCA405671772RYR1c.7719A>T (p.Glu2573Asp)
c.7716A>T (p.Glu2572Asp)
c.1171A>T
n.7802A>T
19g.38502611_38502660dupCA2697556551RYR1c.7719_7768dup (p.Ser2590TyrfsTer?)
c.7716_7765dup (p.Ser2589TyrfsTer?)
c.1171_1220dup
n.7802_7851dup
 ClinVar
19g.38502612C>ACA405671774RYR1c.7720C>A (p.His2574Asn)
c.7717C>A (p.His2573Asn)
c.1172C>A
n.7803C>A
19g.38502612C=CA2335054059RYR1c.7720C= (p.His2574=)
c.7717C= (p.His2573=)
c.1172C=
n.7803C=
19g.38502612C>GCA405671776RYR1c.7720C>G (p.His2574Asp)
c.7717C>G (p.His2573Asp)
c.1172C>G
n.7803C>G
19g.38502612C>TCA070057RYR1c.7720C>T (p.His2574Tyr)
c.7717C>T (p.His2573Tyr)
c.1172C>T
n.7803C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502613A=CA2335054061RYR1c.7721A= (p.His2574=)
c.7718A= (p.His2573=)
c.1173A=
n.7804A=
19g.38502613A>CCA405671780RYR1c.7721A>C (p.His2574Pro)
c.7718A>C (p.His2573Pro)
c.1173A>C
n.7804A>C
 dbSNP gnomAD v3 gnomAD v4
19g.38502613A>GCA082557RYR1c.7721A>G (p.His2574Arg)
c.7718A>G (p.His2573Arg)
c.1173A>G
n.7804A>G
 gnomAD v4
19g.38502613A>TCA405671784RYR1c.7721A>T (p.His2574Leu)
c.7718A>T (p.His2573Leu)
c.1173A>T
n.7804A>T
19g.38502614C>ACA405671786RYR1c.7722C>A (p.His2574Gln)
c.7719C>A (p.His2573Gln)
c.1174C>A
n.7805C>A
19g.38502614C=CA2335054065RYR1c.7722C= (p.His2574=)
c.7719C= (p.His2573=)
c.1174C=
n.7805C=
19g.38502614C>GCA405671789RYR1c.7722C>G (p.His2574Gln)
c.7719C>G (p.His2573Gln)
c.1174C>G
n.7805C>G
19g.38502614C>TCA070061RYR1c.7722C>T (p.His2574=)
c.7719C>T (p.His2573=)
c.1174C>T
n.7805C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38502615C>ACA405671797RYR1c.7723C>A (p.Arg2575Ser)
c.7720C>A (p.Arg2574Ser)
c.1175C>A
n.7806C>A
 gnomAD v4
19g.38502615C=CA2335054068RYR1c.7723C= (p.Arg2575=)
c.7720C= (p.Arg2574=)
c.1175C=
n.7806C=
19g.38502615C>GCA405671800RYR1c.7723C>G (p.Arg2575Gly)
c.7720C>G (p.Arg2574Gly)
c.1175C>G
n.7806C>G
19g.38502615C>TCA082560RYR1c.7723C>T (p.Arg2575Cys)
c.7720C>T (p.Arg2574Cys)
c.1175C>T
n.7806C>T
 ClinVar dbSNP gnomAD v4 COSMIC
19g.38502616G>ACA070067RYR1c.7724G>A (p.Arg2575His)
c.7721G>A (p.Arg2574His)
c.1176G>A
n.7807G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502616G>CCA405671808RYR1c.7724G>C (p.Arg2575Pro)
c.7721G>C (p.Arg2574Pro)
c.1176G>C
n.7807G>C
 ClinVar dbSNP
19g.38502616G=CA2335054075RYR1c.7724G= (p.Arg2575=)
c.7721G= (p.Arg2574=)
c.1176G=
n.7807G=
19g.38502616G>TCA405671810RYR1c.7724G>T (p.Arg2575Leu)
c.7721G>T (p.Arg2574Leu)
c.1176G>T
n.7807G>T
 gnomAD v4
19g.38502617C>ACA507243762RYR1c.7725C>A (p.Arg2575=)
c.7722C>A (p.Arg2574=)
c.1177C>A
n.7808C>A
 ClinVar
19g.38502617C=CA2335054080RYR1c.7725C= (p.Arg2575=)
c.7722C= (p.Arg2574=)
c.1177C=
n.7808C=
19g.38502617C>GCA507243763RYR1c.7725C>G (p.Arg2575=)
c.7722C>G (p.Arg2574=)
c.1177C>G
n.7808C>G
 dbSNP gnomAD v2 gnomAD v4
19g.38502617C>TCA082562RYR1c.7725C>T (p.Arg2575=)
c.7722C>T (p.Arg2574=)
c.1177C>T
n.7808C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38502618G>ACA070074RYR1c.7726G>A (p.Ala2576Thr)
c.7723G>A (p.Ala2575Thr)
c.1178G>A
n.7809G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38502618G>CCA405671813RYR1c.7726G>C (p.Ala2576Pro)
c.7723G>C (p.Ala2575Pro)
c.1178G>C
n.7809G>C
19g.38502618G=CA2335054084RYR1c.7726G= (p.Ala2576=)
c.7723G= (p.Ala2575=)
c.1178G=
n.7809G=
19g.38502618G>TCA405671816RYR1c.7726G>T (p.Ala2576Ser)
c.7723G>T (p.Ala2575Ser)
c.1178G>T
n.7809G>T
19g.38502619C>ACA405671824RYR1c.7727C>A (p.Ala2576Asp)
c.7724C>A (p.Ala2575Asp)
c.1179C>A
n.7810C>A
19g.38502619C=CA2335054085RYR1c.7727C= (p.Ala2576=)
c.7724C= (p.Ala2575=)
c.1179C=
n.7810C=
19g.38502619C>GCA405671826RYR1c.7727C>G (p.Ala2576Gly)
c.7724C>G (p.Ala2575Gly)
c.1179C>G
n.7810C>G
19g.38502619C>TCA070078RYR1c.7727C>T (p.Ala2576Val)
c.7724C>T (p.Ala2575Val)
c.1179C>T
n.7810C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502620C>ACA507243767RYR1c.7728C>A (p.Ala2576=)
c.7725C>A (p.Ala2575=)
c.1180C>A
n.7811C>A
19g.38502620C=CA2335054087RYR1c.7728C= (p.Ala2576=)
c.7725C= (p.Ala2575=)
c.1180C=
n.7811C=
19g.38502620C>GCA507243768RYR1c.7728C>G (p.Ala2576=)
c.7725C>G (p.Ala2575=)
c.1180C>G
n.7811C>G
19g.38502620C>TCA308112080RYR1c.7728C>T (p.Ala2576=)
c.7725C>T (p.Ala2575=)
c.1180C>T
n.7811C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502621A=CA2335054093RYR1c.7729A= (p.Ile2577=)
c.7726A= (p.Ile2576=)
c.1181A=
n.7812A=
19g.38502621A>CCA070082RYR1c.7729A>C (p.Ile2577Leu)
c.7726A>C (p.Ile2576Leu)
c.1181A>C
n.7812A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502621A>GCA070086RYR1c.7729A>G (p.Ile2577Val)
c.7726A>G (p.Ile2576Val)
c.1181A>G
n.7812A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502621A>TCA405671829RYR1c.7729A>T (p.Ile2577Phe)
c.7726A>T (p.Ile2576Phe)
c.1181A>T
n.7812A>T
 gnomAD v4
19g.38502621_38502634delinsATCATGGTGGACTCCA2335054373RYR1c.7729_7742delinsATCATGGTGGACTC (p.Ile2577=)
c.7726_7739delinsATCATGGTGGACTC (p.Ile2576=)
c.1181_1194delinsATCATGGTGGACTC
n.7812_7825delinsATCATGGTGGACTC
19g.38502622T>ACA405671830RYR1c.7730T>A (p.Ile2577Asn)
c.7727T>A (p.Ile2576Asn)
c.1182T>A
n.7813T>A
19g.38502622T>CCA405671831RYR1c.7730T>C (p.Ile2577Thr)
c.7727T>C (p.Ile2576Thr)
c.1182T>C
n.7813T>C
 ClinVar
19g.38502622T>GCA405671833RYR1c.7730T>G (p.Ile2577Ser)
c.7727T>G (p.Ile2576Ser)
c.1182T>G
n.7813T>G
19g.38502624_38502634delCA2584900597RYR1c.7732_7742del (p.Met2578TyrfsTer20)
c.7729_7739del (p.Met2577TyrfsTer20)
c.1184_1194del
n.7815_7825del
 gnomAD v4
19g.38502623_38502635delCA633066644RYR1c.7731_7743del (p.Met2578CysfsTer?)
c.7728_7740del (p.Met2577CysfsTer?)
c.1183_1195del
n.7814_7826del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502623C>ACA507243777RYR1c.7731C>A (p.Ile2577=)
c.7728C>A (p.Ile2576=)
c.1183C>A
n.7814C>A
19g.38502623C=CA2335054374RYR1c.7731C= (p.Ile2577=)
c.7728C= (p.Ile2576=)
c.1183C=
n.7814C=
19g.38502623C>GCA405671834RYR1c.7731C>G (p.Ile2577Met)
c.7728C>G (p.Ile2576Met)
c.1183C>G
n.7814C>G
19g.38502623C>TCA507243776RYR1c.7731C>T (p.Ile2577=)
c.7728C>T (p.Ile2576=)
c.1183C>T
n.7814C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502624A=CA2335054375RYR1c.7732A= (p.Met2578=)
c.7729A= (p.Met2577=)
c.1184A=
n.7815A=
19g.38502624A>CCA082569RYR1c.7732A>C (p.Met2578Leu)
c.7729A>C (p.Met2577Leu)
c.1184A>C
n.7815A>C
19g.38502624A>GCA082571RYR1c.7732A>G (p.Met2578Val)
c.7729A>G (p.Met2577Val)
c.1184A>G
n.7815A>G
 dbSNP gnomAD v2 gnomAD v4
19g.38502624A>TCA405671836RYR1c.7732A>T (p.Met2578Leu)
c.7729A>T (p.Met2577Leu)
c.1184A>T
n.7815A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502625T>ACA405671839RYR1c.7733T>A (p.Met2578Lys)
c.7730T>A (p.Met2577Lys)
c.1185T>A
n.7816T>A
19g.38502625T>CCA070096RYR1c.7733T>C (p.Met2578Thr)
c.7730T>C (p.Met2577Thr)
c.1185T>C
n.7816T>C
 dbSNP ExAC
19g.38502625T>GCA405671840RYR1c.7733T>G (p.Met2578Arg)
c.7730T>G (p.Met2577Arg)
c.1185T>G
n.7816T>G
19g.38502625T=CA2335054376RYR1c.7733T= (p.Met2578=)
c.7730T= (p.Met2577=)
c.1185T=
n.7816T=
19g.38502626G>ACA405671842RYR1c.7734G>A (p.Met2578Ile)
c.7731G>A (p.Met2577Ile)
c.1186G>A
n.7817G>A
19g.38502626G>CCA405671845RYR1c.7734G>C (p.Met2578Ile)
c.7731G>C (p.Met2577Ile)
c.1186G>C
n.7817G>C
19g.38502626G>TCA405671844RYR1c.7734G>T (p.Met2578Ile)
c.7731G>T (p.Met2577Ile)
c.1186G>T
n.7817G>T
 COSMIC
19g.38502627G>ACA405671848RYR1c.7735G>A (p.Val2579Met)
c.7732G>A (p.Val2578Met)
c.1187G>A
n.7818G>A
 gnomAD v4
19g.38502627G>CCA405671850RYR1c.7735G>C (p.Val2579Leu)
c.7732G>C (p.Val2578Leu)
c.1187G>C
n.7818G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38502627G=CA2335054377RYR1c.7735G= (p.Val2579=)
c.7732G= (p.Val2578=)
c.1187G=
n.7818G=
19g.38502627G>TCA405671854RYR1c.7735G>T (p.Val2579Leu)
c.7732G>T (p.Val2578Leu)
c.1187G>T
n.7818G>T
19g.38502628T>ACA405671856RYR1c.7736T>A (p.Val2579Glu)
c.7733T>A (p.Val2578Glu)
c.1188T>A
n.7819T>A
19g.38502628T>CCA070102RYR1c.7736T>C (p.Val2579Ala)
c.7733T>C (p.Val2578Ala)
c.1188T>C
n.7819T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502628T>GCA308112121RYR1c.7736T>G (p.Val2579Gly)
c.7733T>G (p.Val2578Gly)
c.1188T>G
n.7819T>G
 ClinVar dbSNP
19g.38502628T=CA2335054378RYR1c.7736T= (p.Val2579=)
c.7733T= (p.Val2578=)
c.1188T=
n.7819T=
19g.38502629G>ACA024844RYR1c.7737G>A (p.Val2579=)
c.7734G>A (p.Val2578=)
c.1189G>A
n.7820G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502629G>CCA507243790RYR1c.7737G>C (p.Val2579=)
c.7734G>C (p.Val2578=)
c.1189G>C
n.7820G>C
19g.38502629G=CA2335054379RYR1c.7737G= (p.Val2579=)
c.7734G= (p.Val2578=)
c.1189G=
n.7820G=
19g.38502629G>TCA070110RYR1c.7737G>T (p.Val2579=)
c.7734G>T (p.Val2578=)
c.1189G>T
n.7820G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502630G>ACA070115RYR1c.7738G>A (p.Asp2580Asn)
c.7735G>A (p.Asp2579Asn)
c.1190G>A
n.7821G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38502630G>CCA405671862RYR1c.7738G>C (p.Asp2580His)
c.7735G>C (p.Asp2579His)
c.1190G>C
n.7821G>C
19g.38502630G=CA2335054380RYR1c.7738G= (p.Asp2580=)
c.7735G= (p.Asp2579=)
c.1190G=
n.7821G=
19g.38502630G>TCA405671863RYR1c.7738G>T (p.Asp2580Tyr)
c.7735G>T (p.Asp2579Tyr)
c.1190G>T
n.7821G>T
19g.38502631A=CA2335054381RYR1c.7739A= (p.Asp2580=)
c.7736A= (p.Asp2579=)
c.1191A=
n.7822A=
19g.38502631A>CCA405671865RYR1c.7739A>C (p.Asp2580Ala)
c.7736A>C (p.Asp2579Ala)
c.1191A>C
n.7822A>C
 dbSNP gnomAD v3 gnomAD v4
19g.38502631A>GCA405671866RYR1c.7739A>G (p.Asp2580Gly)
c.7736A>G (p.Asp2579Gly)
c.1191A>G
n.7822A>G
19g.38502631A>TCA405671864RYR1c.7739A>T (p.Asp2580Val)
c.7736A>T (p.Asp2579Val)
c.1191A>T
n.7822A>T
19g.38502632C>ACA405671869RYR1c.7740C>A (p.Asp2580Glu)
c.7737C>A (p.Asp2579Glu)
c.1192C>A
n.7823C>A
19g.38502632C=CA2335054382RYR1c.7740C= (p.Asp2580=)
c.7737C= (p.Asp2579=)
c.1192C=
n.7823C=
19g.38502632C>GCA405671868RYR1c.7740C>G (p.Asp2580Glu)
c.7737C>G (p.Asp2579Glu)
c.1192C>G
n.7823C>G
 dbSNP gnomAD v3 gnomAD v4
19g.38502632C>TCA082580RYR1c.7740C>T (p.Asp2580=)
c.7737C>T (p.Asp2579=)
c.1192C>T
n.7823C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502633T>ACA405671876RYR1c.7741T>A (p.Ser2581Thr)
c.7738T>A (p.Ser2580Thr)
c.1193T>A
n.7824T>A
19g.38502633T>CCA405671879RYR1c.7741T>C (p.Ser2581Pro)
c.7738T>C (p.Ser2580Pro)
c.1193T>C
n.7824T>C
 gnomAD v4
19g.38502633T>GCA405671880RYR1c.7741T>G (p.Ser2581Ala)
c.7738T>G (p.Ser2580Ala)
c.1193T>G
n.7824T>G
19g.38502634C>ACA405671891RYR1c.7742C>A (p.Ser2581Tyr)
c.7739C>A (p.Ser2580Tyr)
c.1194C>A
n.7825C>A
 COSMIC
19g.38502634C=CA2335054383RYR1c.7742C= (p.Ser2581=)
c.7739C= (p.Ser2580=)
c.1194C=
n.7825C=
19g.38502634C>GCA070127RYR1c.7742C>G (p.Ser2581Cys)
c.7739C>G (p.Ser2580Cys)
c.1194C>G
n.7825C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502634C>TCA405671886RYR1c.7742C>T (p.Ser2581Phe)
c.7739C>T (p.Ser2580Phe)
c.1194C>T
n.7825C>T
 ClinVar dbSNP gnomAD v4
19g.38502635T>ACA507243806RYR1c.7743T>A (p.Ser2581=)
c.7740T>A (p.Ser2580=)
c.1195T>A
n.7826T>A
19g.38502635T>CCA507243807RYR1c.7743T>C (p.Ser2581=)
c.7740T>C (p.Ser2580=)
c.1195T>C
n.7826T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502635T>GCA507243808RYR1c.7743T>G (p.Ser2581=)
c.7740T>G (p.Ser2580=)
c.1195T>G
n.7826T>G
19g.38502635T=CA2335054384RYR1c.7743T= (p.Ser2581=)
c.7740T= (p.Ser2580=)
c.1195T=
n.7826T=
19g.38502636_38502637dupCA2584900598RYR1c.7744_7745dup (p.Met2582IlefsTer?)
c.7741_7742dup (p.Met2581IlefsTer?)
c.1196_1197dup
n.7827_7828dup
 gnomAD v4
19g.38502636_38502637delCA2573054755RYR1c.7744_7745del (p.Met2582AlafsTer19)
c.7741_7742del (p.Met2581AlafsTer19)
c.1196_1197del
n.7827_7828del
 ClinVar dbSNP gnomAD v4
19g.38502636A=CA2335054385RYR1c.7744A= (p.Met2582=)
c.7741A= (p.Met2581=)
c.1196A=
n.7827A=
19g.38502636A>CCA405671893RYR1c.7744A>C (p.Met2582Leu)
c.7741A>C (p.Met2581Leu)
c.1196A>C
n.7827A>C
19g.38502636A>GCA070132RYR1c.7744A>G (p.Met2582Val)
c.7741A>G (p.Met2581Val)
c.1196A>G
n.7827A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502636A>TCA405671895RYR1c.7744A>T (p.Met2582Leu)
c.7741A>T (p.Met2581Leu)
c.1196A>T
n.7827A>T
19g.38502637T>ACA405671898RYR1c.7745T>A (p.Met2582Lys)
c.7742T>A (p.Met2581Lys)
c.1197T>A
n.7828T>A
19g.38502637T>CCA405671899RYR1c.7745T>C (p.Met2582Thr)
c.7742T>C (p.Met2581Thr)
c.1197T>C
n.7828T>C
 gnomAD v4
19g.38502637T>GCA405671901RYR1c.7745T>G (p.Met2582Arg)
c.7742T>G (p.Met2581Arg)
c.1197T>G
n.7828T>G
19g.38502638G>ACA405671903RYR1c.7746G>A (p.Met2582Ile)
c.7743G>A (p.Met2581Ile)
c.1198G>A
n.7829G>A
 ClinVar gnomAD v4
19g.38502638G>CCA405671905RYR1c.7746G>C (p.Met2582Ile)
c.7743G>C (p.Met2581Ile)
c.1198G>C
n.7829G>C
19g.38502638G>TCA405671904RYR1c.7746G>T (p.Met2582Ile)
c.7743G>T (p.Met2581Ile)
c.1198G>T
n.7829G>T
19g.38502639C>ACA405671906RYR1c.7747C>A (p.Leu2583Met)
c.7744C>A (p.Leu2582Met)
c.1199C>A
n.7830C>A
 dbSNP gnomAD v2 gnomAD v4
19g.38502639C=CA2335054386RYR1c.7747C= (p.Leu2583=)
c.7744C= (p.Leu2582=)
c.1199C=
n.7830C=
19g.38502639C>GCA405671907RYR1c.7747C>G (p.Leu2583Val)
c.7744C>G (p.Leu2582Val)
c.1199C>G
n.7830C>G
 dbSNP
19g.38502639C>TCA070138RYR1c.7747C>T (p.Leu2583=)
c.7744C>T (p.Leu2582=)
c.1199C>T
n.7830C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502640T>ACA405671909RYR1c.7748T>A (p.Leu2583Gln)
c.7745T>A (p.Leu2582Gln)
c.1200T>A
n.7831T>A
 ClinVar
19g.38502640T>CCA405671910RYR1c.7748T>C (p.Leu2583Pro)
c.7745T>C (p.Leu2582Pro)
c.1200T>C
n.7831T>C
19g.38502640T>GCA405671912RYR1c.7748T>G (p.Leu2583Arg)
c.7745T>G (p.Leu2582Arg)
c.1200T>G
n.7831T>G
19g.38502641G>ACA507243821RYR1c.7749G>A (p.Leu2583=)
c.7746G>A (p.Leu2582=)
c.1201G>A
n.7832G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502641G>CCA507243822RYR1c.7749G>C (p.Leu2583=)
c.7746G>C (p.Leu2582=)
c.1201G>C
n.7832G>C
19g.38502641G=CA2335054387RYR1c.7749G= (p.Leu2583=)
c.7746G= (p.Leu2582=)
c.1201G=
n.7832G=
19g.38502641G>TCA507243823RYR1c.7749G>T (p.Leu2583=)
c.7746G>T (p.Leu2582=)
c.1201G>T
n.7832G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38502642C>ACA405671914RYR1c.7750C>A (p.His2584Asn)
c.7747C>A (p.His2583Asn)
c.1202C>A
n.7833C>A
19g.38502642C=CA2335054388RYR1c.7750C= (p.His2584=)
c.7747C= (p.His2583=)
c.1202C=
n.7833C=
19g.38502642C>GCA405671917RYR1c.7750C>G (p.His2584Asp)
c.7747C>G (p.His2583Asp)
c.1202C>G
n.7833C>G
19g.38502642C>TCA082591RYR1c.7750C>T (p.His2584Tyr)
c.7747C>T (p.His2583Tyr)
c.1202C>T
n.7833C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38502643A>CCA405671918RYR1c.7751A>C (p.His2584Pro)
c.7748A>C (p.His2583Pro)
c.1203A>C
n.7834A>C
19g.38502643A>GCA405671920RYR1c.7751A>G (p.His2584Arg)
c.7748A>G (p.His2583Arg)
c.1203A>G
n.7834A>G
19g.38502643A>TCA405671923RYR1c.7751A>T (p.His2584Leu)
c.7748A>T (p.His2583Leu)
c.1203A>T
n.7834A>T
19g.38502643_38502650delCA2584900599RYR1c.7751_7758del (p.His2584LeufsTer15)
c.7748_7755del (p.His2583LeufsTer15)
c.1203_1210del
n.7834_7841del
 gnomAD v4
19g.38502644T>ACA405671930RYR1c.7752T>A (p.His2584Gln)
c.7749T>A (p.His2583Gln)
c.1204T>A
n.7835T>A
19g.38502644T>CCA507243828RYR1c.7752T>C (p.His2584=)
c.7749T>C (p.His2583=)
c.1204T>C
n.7835T>C
 ClinVar dbSNP gnomAD v4
19g.38502644T>GCA405671938RYR1c.7752T>G (p.His2584Gln)
c.7749T>G (p.His2583Gln)
c.1204T>G
n.7835T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38502644T=CA2335054389RYR1c.7752T= (p.His2584=)
c.7749T= (p.His2583=)
c.1204T=
n.7835T=
19g.38502645A=CA2335054390RYR1c.7753A= (p.Thr2585=)
c.7750A= (p.Thr2584=)
c.1205A=
n.7836A=
19g.38502645A>CCA405671939RYR1c.7753A>C (p.Thr2585Pro)
c.7750A>C (p.Thr2584Pro)
c.1205A>C
n.7836A>C
 dbSNP
19g.38502645A>GCA405671940RYR1c.7753A>G (p.Thr2585Ala)
c.7750A>G (p.Thr2584Ala)
c.1205A>G
n.7836A>G
 ClinVar
19g.38502645A>TCA405671941RYR1c.7753A>T (p.Thr2585Ser)
c.7750A>T (p.Thr2584Ser)
c.1205A>T
n.7836A>T
19g.38502646C>ACA405671943RYR1c.7754C>A (p.Thr2585Asn)
c.7751C>A (p.Thr2584Asn)
c.1206C>A
n.7837C>A
19g.38502646C=CA2335054391RYR1c.7754C= (p.Thr2585=)
c.7751C= (p.Thr2584=)
c.1206C=
n.7837C=
19g.38502646C>GCA405671944RYR1c.7754C>G (p.Thr2585Ser)
c.7751C>G (p.Thr2584Ser)
c.1206C>G
n.7837C>G
19g.38502646C>TCA070145RYR1c.7754C>T (p.Thr2585Ile)
c.7751C>T (p.Thr2584Ile)
c.1206C>T
n.7837C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502647C>ACA507243838RYR1c.7755C>A (p.Thr2585=)
c.7752C>A (p.Thr2584=)
c.1207C>A
n.7838C>A
 gnomAD v4
19g.38502647C=CA2335054392RYR1c.7755C= (p.Thr2585=)
c.7752C= (p.Thr2584=)
c.1207C=
n.7838C=
19g.38502647C>GCA070147RYR1c.7755C>G (p.Thr2585=)
c.7752C>G (p.Thr2584=)
c.1207C>G
n.7838C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38502647C>TCA070152RYR1c.7755C>T (p.Thr2585=)
c.7752C>T (p.Thr2584=)
c.1207C>T
n.7838C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38502648G>ACA070159RYR1c.7756G>A (p.Val2586Met)
c.7753G>A (p.Val2585Met)
c.1208G>A
n.7839G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38502648G>CCA405671965RYR1c.7756G>C (p.Val2586Leu)
c.7753G>C (p.Val2585Leu)
c.1208G>C
n.7839G>C
19g.38502648G=CA2335054393RYR1c.7756G= (p.Val2586=)
c.7753G= (p.Val2585=)
c.1208G=
n.7839G=
19g.38502648G>TCA405671968RYR1c.7756G>T (p.Val2586Leu)
c.7753G>T (p.Val2585Leu)
c.1208G>T
n.7839G>T
 gnomAD v4
19g.38502649T>ACA405671973RYR1c.7757T>A (p.Val2586Glu)
c.7754T>A (p.Val2585Glu)
c.1209T>A
n.7840T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38502649T>CCA405671976RYR1c.7757T>C (p.Val2586Ala)
c.7754T>C (p.Val2585Ala)
c.1209T>C
n.7840T>C
19g.38502649T>GCA308112165RYR1c.7757T>G (p.Val2586Gly)
c.7754T>G (p.Val2585Gly)
c.1209T>G
n.7840T>G
 dbSNP gnomAD v3 gnomAD v4
19g.38502649T=CA2335054394RYR1c.7757T= (p.Val2586=)
c.7754T= (p.Val2585=)
c.1209T=
n.7840T=

Number of alleles fetched