Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38499967_38499969delCA882051645RYR1c.7274_7276del (p.Phe2425del)
c.7271_7273del (p.Phe2424del)
c.726_728del
n.7357_7359del
dbSNP gnomAD v3 gnomAD v4
19g.38499969T>ACA405669403RYR1c.7276T>A (p.Tyr2426Asn)
c.7273T>A (p.Tyr2425Asn)
c.728T>A
n.7359T>A
19g.38499969T>CCA405669407RYR1c.7276T>C (p.Tyr2426His)
c.7273T>C (p.Tyr2425His)
c.728T>C
n.7359T>C
19g.38499969T>GCA405669410RYR1c.7276T>G (p.Tyr2426Asp)
c.7273T>G (p.Tyr2425Asp)
c.728T>G
n.7359T>G
19g.38499970delCA2814346208RYR1c.7277del (p.Tyr2426LeufsTer4)
c.7274del (p.Tyr2425LeufsTer4)
c.729del
n.7360del
19g.38499970A=CA2335053033RYR1c.7277A= (p.Tyr2426=)
c.7274A= (p.Tyr2425=)
c.729A=
n.7360A=
19g.38499970A>CCA405669413RYR1c.7277A>C (p.Tyr2426Ser)
c.7274A>C (p.Tyr2425Ser)
c.729A>C
n.7360A>C
gnomAD v4
19g.38499970A>GCA405669417RYR1c.7277A>G (p.Tyr2426Cys)
c.7274A>G (p.Tyr2425Cys)
c.729A>G
n.7360A>G
dbSNP gnomAD v2 gnomAD v4
19g.38499970A>TCA405669419RYR1c.7277A>T (p.Tyr2426Phe)
c.7274A>T (p.Tyr2425Phe)
c.729A>T
n.7360A>T
19g.38499971T>ACA405669421RYR1c.7278T>A (p.Tyr2426Ter)
c.7275T>A (p.Tyr2425Ter)
c.730T>A
n.7361T>A
19g.38499971T>CCA507353761RYR1c.7278T>C (p.Tyr2426=)
c.7275T>C (p.Tyr2425=)
c.730T>C
n.7361T>C
ClinVar dbSNP gnomAD v4
19g.38499971T>GCA405669422RYR1c.7278T>G (p.Tyr2426Ter)
c.7275T>G (p.Tyr2425Ter)
c.730T>G
n.7361T>G
19g.38499972G>ACA405669427RYR1c.7279G>A (p.Ala2427Thr)
c.7276G>A (p.Ala2426Thr)
c.731G>A
n.7362G>A
19g.38499972G>CCA405669432RYR1c.7279G>C (p.Ala2427Pro)
c.7276G>C (p.Ala2426Pro)
c.731G>C
n.7362G>C
19g.38499972G>TCA405669428RYR1c.7279G>T (p.Ala2427Ser)
c.7276G>T (p.Ala2426Ser)
c.731G>T
n.7362G>T
19g.38499973C>ACA405669437RYR1c.7280C>A (p.Ala2427Asp)
c.7277C>A (p.Ala2426Asp)
c.732C>A
n.7363C>A
19g.38499973C>GCA405669441RYR1c.7280C>G (p.Ala2427Gly)
c.7277C>G (p.Ala2426Gly)
c.732C>G
n.7363C>G
19g.38499973C>TCA405669443RYR1c.7280C>T (p.Ala2427Val)
c.7277C>T (p.Ala2426Val)
c.732C>T
n.7363C>T
gnomAD v4 COSMIC
19g.38499974C>ACA507353765RYR1c.7281C>A (p.Ala2427=)
c.7278C>A (p.Ala2426=)
c.733C>A
n.7364C>A
19g.38499974C=CA2335053034RYR1c.7281C= (p.Ala2427=)
c.7278C= (p.Ala2426=)
c.733C=
n.7364C=
19g.38499974C>GCA507353766RYR1c.7281C>G (p.Ala2427=)
c.7278C>G (p.Ala2426=)
c.733C>G
n.7364C>G
19g.38499974C>TCA024735RYR1c.7281C>T (p.Ala2427=)
c.7278C>T (p.Ala2426=)
c.733C>T
n.7364C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499975G>ACA024738RYR1c.7282G>A (p.Ala2428Thr)
c.7279G>A (p.Ala2427Thr)
c.734G>A
n.7365G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499975G>CCA405669465RYR1c.7282G>C (p.Ala2428Pro)
c.7279G>C (p.Ala2427Pro)
c.734G>C
n.7365G>C
19g.38499975G=CA2335053035RYR1c.7282G= (p.Ala2428=)
c.7279G= (p.Ala2427=)
c.734G=
n.7365G=
19g.38499975G>TCA405669469RYR1c.7282G>T (p.Ala2428Ser)
c.7279G>T (p.Ala2427Ser)
c.734G>T
n.7365G>T
ClinVar dbSNP
19g.38499976C>ACA405669470RYR1c.7283C>A (p.Ala2428Asp)
c.7280C>A (p.Ala2427Asp)
c.735C>A
n.7366C>A
19g.38499976C>GCA405669472RYR1c.7283C>G (p.Ala2428Gly)
c.7280C>G (p.Ala2427Gly)
c.735C>G
n.7366C>G
19g.38499976C>TCA405669477RYR1c.7283C>T (p.Ala2428Val)
c.7280C>T (p.Ala2427Val)
c.735C>T
n.7366C>T
19g.38499977C>ACA507353768RYR1c.7284C>A (p.Ala2428=)
c.7281C>A (p.Ala2427=)
c.736C>A
n.7367C>A
19g.38499977C=CA2335053036RYR1c.7284C= (p.Ala2428=)
c.7281C= (p.Ala2427=)
c.736C=
n.7367C=
19g.38499977C>GCA507353769RYR1c.7284C>G (p.Ala2428=)
c.7281C>G (p.Ala2427=)
c.736C>G
n.7367C>G
19g.38499977C>TCA082393RYR1c.7284C>T (p.Ala2428=)
c.7281C>T (p.Ala2427=)
c.736C>T
n.7367C>T
dbSNP gnomAD v4
19g.38499978T>ACA405669482RYR1c.7285T>A (p.Leu2429Met)
c.7282T>A (p.Leu2428Met)
c.737T>A
n.7368T>A
19g.38499978T>CCA507353770RYR1c.7285T>C (p.Leu2429=)
c.7282T>C (p.Leu2428=)
c.737T>C
n.7368T>C
19g.38499978T>GCA405669479RYR1c.7285T>G (p.Leu2429Val)
c.7282T>G (p.Leu2428Val)
c.737T>G
n.7368T>G
19g.38499979T>ACA405669484RYR1c.7286T>A (p.Leu2429Ter)
c.7283T>A (p.Leu2428Ter)
c.738T>A
n.7369T>A
19g.38499979T>CCA405669487RYR1c.7286T>C (p.Leu2429Ser)
c.7283T>C (p.Leu2428Ser)
c.738T>C
n.7369T>C
19g.38499979T>GCA405669489RYR1c.7286T>G (p.Leu2429Trp)
c.7283T>G (p.Leu2428Trp)
c.738T>G
n.7369T>G
gnomAD v4
19g.38499980G>ACA507353772RYR1c.7287G>A (p.Leu2429=)
c.7284G>A (p.Leu2428=)
c.739G>A
n.7370G>A
gnomAD v4
19g.38499980G>CCA405669491RYR1c.7287G>C (p.Leu2429Phe)
c.7284G>C (p.Leu2428Phe)
c.739G>C
n.7370G>C
19g.38499980G>TCA405669493RYR1c.7287G>T (p.Leu2429Phe)
c.7284G>T (p.Leu2428Phe)
c.739G>T
n.7370G>T
19g.38499981A>CCA405669497RYR1c.7288A>C (p.Ile2430Leu)
c.7285A>C (p.Ile2429Leu)
c.740A>C
n.7371A>C
19g.38499981A>GCA405669506RYR1c.7288A>G (p.Ile2430Val)
c.7285A>G (p.Ile2429Val)
c.740A>G
n.7371A>G
COSMIC
19g.38499981A>TCA405669509RYR1c.7288A>T (p.Ile2430Phe)
c.7285A>T (p.Ile2429Phe)
c.740A>T
n.7371A>T
19g.38499982T>ACA405669511RYR1c.7289T>A (p.Ile2430Asn)
c.7286T>A (p.Ile2429Asn)
c.741T>A
n.7372T>A
19g.38499982T>CCA405669512RYR1c.7289T>C (p.Ile2430Thr)
c.7286T>C (p.Ile2429Thr)
c.741T>C
n.7372T>C
19g.38499982T>GCA405669513RYR1c.7289T>G (p.Ile2430Ser)
c.7286T>G (p.Ile2429Ser)
c.741T>G
n.7372T>G
19g.38499983C>ACA507353776RYR1c.7290C>A (p.Ile2430=)
c.7287C>A (p.Ile2429=)
c.742C>A
n.7373C>A
ClinVar gnomAD v4
19g.38499983C=CA2335053037RYR1c.7290C= (p.Ile2430=)
c.7287C= (p.Ile2429=)
c.742C=
n.7373C=
19g.38499983C>GCA069448RYR1c.7290C>G (p.Ile2430Met)
c.7287C>G (p.Ile2429Met)
c.742C>G
n.7373C>G
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499983C>TCA069451RYR1c.7290C>T (p.Ile2430=)
c.7287C>T (p.Ile2429=)
c.742C>T
n.7373C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38499984G>ACA024741RYR1c.7291G>A (p.Asp2431Asn)
c.7288G>A (p.Asp2430Asn)
c.743G>A
n.7374G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38499984G>CCA405669517RYR1c.7291G>C (p.Asp2431His)
c.7288G>C (p.Asp2430His)
c.743G>C
n.7374G>C
19g.38499984G=CA2335053038RYR1c.7291G= (p.Asp2431=)
c.7288G= (p.Asp2430=)
c.743G=
n.7374G=
19g.38499984G>TCA024744RYR1c.7291G>T (p.Asp2431Tyr)
c.7288G>T (p.Asp2430Tyr)
c.743G>T
n.7374G>T
ClinVar dbSNP gnomAD v4
19g.38499985A>CCA405669521RYR1c.7292A>C (p.Asp2431Ala)
c.7289A>C (p.Asp2430Ala)
c.744A>C
n.7375A>C
19g.38499985A>GCA405669523RYR1c.7292A>G (p.Asp2431Gly)
c.7289A>G (p.Asp2430Gly)
c.744A>G
n.7375A>G
gnomAD v4
19g.38499985A>TCA405669526RYR1c.7292A>T (p.Asp2431Val)
c.7289A>T (p.Asp2430Val)
c.744A>T
n.7375A>T
ClinVar dbSNP
19g.38499986C>ACA405669534RYR1c.7293C>A (p.Asp2431Glu)
c.7290C>A (p.Asp2430Glu)
c.745C>A
n.7376C>A
19g.38499986C=CA2335053039RYR1c.7293C= (p.Asp2431=)
c.7290C= (p.Asp2430=)
c.745C=
n.7376C=
19g.38499986C>GCA082394RYR1c.7293C>G (p.Asp2431Glu)
c.7290C>G (p.Asp2430Glu)
c.745C>G
n.7376C>G
19g.38499986C>TCA069456RYR1c.7293C>T (p.Asp2431=)
c.7290C>T (p.Asp2430=)
c.745C>T
n.7376C>T
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
19g.38499987C>ACA405669541RYR1c.7294C>A (p.Leu2432Met)
c.7291C>A (p.Leu2431Met)
c.746C>A
n.7377C>A
COSMIC
19g.38499987C>GCA405669544RYR1c.7294C>G (p.Leu2432Val)
c.7291C>G (p.Leu2431Val)
c.746C>G
n.7377C>G
19g.38499987C>TCA507353779RYR1c.7294C>T (p.Leu2432=)
c.7291C>T (p.Leu2431=)
c.746C>T
n.7377C>T
19g.38499988T>ACA405669557RYR1c.7295T>A (p.Leu2432Gln)
c.7292T>A (p.Leu2431Gln)
c.747T>A
n.7378T>A
19g.38499988T>CCA405669558RYR1c.7295T>C (p.Leu2432Pro)
c.7292T>C (p.Leu2431Pro)
c.747T>C
n.7378T>C
19g.38499988T>GCA405669560RYR1c.7295T>G (p.Leu2432Arg)
c.7292T>G (p.Leu2431Arg)
c.747T>G
n.7378T>G
19g.38499989G>ACA507353783RYR1c.7296G>A (p.Leu2432=)
c.7293G>A (p.Leu2431=)
c.748G>A
n.7379G>A
19g.38499989G>CCA507353782RYR1c.7296G>C (p.Leu2432=)
c.7293G>C (p.Leu2431=)
c.748G>C
n.7379G>C
19g.38499989G>TCA507353781RYR1c.7296G>T (p.Leu2432=)
c.7293G>T (p.Leu2431=)
c.748G>T
n.7379G>T
19g.38499990C>ACA405669561RYR1c.7297C>A (p.Leu2433Ile)
c.7294C>A (p.Leu2432Ile)
c.749C>A
n.7380C>A
19g.38499990C>GCA405669562RYR1c.7297C>G (p.Leu2433Val)
c.7294C>G (p.Leu2432Val)
c.749C>G
n.7380C>G
19g.38499990C>TCA405669563RYR1c.7297C>T (p.Leu2433Phe)
c.7294C>T (p.Leu2432Phe)
c.749C>T
n.7380C>T
19g.38499991T>ACA405669565RYR1c.7298T>A (p.Leu2433His)
c.7295T>A (p.Leu2432His)
c.750T>A
n.7381T>A
19g.38499991T>CCA405669567RYR1c.7298T>C (p.Leu2433Pro)
c.7295T>C (p.Leu2432Pro)
c.750T>C
n.7381T>C
ClinVar dbSNP
19g.38499991T>GCA405669564RYR1c.7298T>G (p.Leu2433Arg)
c.7295T>G (p.Leu2432Arg)
c.750T>G
n.7381T>G
19g.38499991T=CA2335053040RYR1c.7298T= (p.Leu2433=)
c.7295T= (p.Leu2432=)
c.750T=
n.7381T=
19g.38499992C>ACA507353784RYR1c.7299C>A (p.Leu2433=)
c.7296C>A (p.Leu2432=)
c.751C>A
n.7382C>A
19g.38499992C=CA2335053041RYR1c.7299C= (p.Leu2433=)
c.7296C= (p.Leu2432=)
c.751C=
n.7382C=
19g.38499992C>GCA507353786RYR1c.7299C>G (p.Leu2433=)
c.7296C>G (p.Leu2432=)
c.751C>G
n.7382C>G
19g.38499992C>TCA069459RYR1c.7299C>T (p.Leu2433=)
c.7296C>T (p.Leu2432=)
c.751C>T
n.7382C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38499993G>ACA024747RYR1c.7300G>A (p.Gly2434Arg)
c.7297G>A (p.Gly2433Arg)
c.752G>A
n.7383G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38499993G>CCA405669571RYR1c.7300G>C (p.Gly2434Arg)
c.7297G>C (p.Gly2433Arg)
c.752G>C
n.7383G>C
19g.38499993G=CA2335053042RYR1c.7300G= (p.Gly2434=)
c.7297G= (p.Gly2433=)
c.752G=
n.7383G=
19g.38499993G>TCA405669574RYR1c.7300G>T (p.Gly2434Ter)
c.7297G>T (p.Gly2433Ter)
c.752G>T
n.7383G>T
19g.38499994G>ACA405669580RYR1c.7301G>A (p.Gly2434Glu)
c.7298G>A (p.Gly2433Glu)
c.753G>A
n.7384G>A
19g.38499994G>CCA405669582RYR1c.7301G>C (p.Gly2434Ala)
c.7298G>C (p.Gly2433Ala)
c.753G>C
n.7384G>C
19g.38499994G>TCA405669583RYR1c.7301G>T (p.Gly2434Val)
c.7298G>T (p.Gly2433Val)
c.753G>T
n.7384G>T
19g.38499995A=CA2335053043RYR1c.7302A= (p.Gly2434=)
c.7299A= (p.Gly2433=)
c.754A=
n.7385A=
19g.38499995A>CCA507353790RYR1c.7302A>C (p.Gly2434=)
c.7299A>C (p.Gly2433=)
c.754A>C
n.7385A>C
19g.38499995A>GCA308109856RYR1c.7302A>G (p.Gly2434=)
c.7299A>G (p.Gly2433=)
c.754A>G
n.7385A>G
ClinVar dbSNP
19g.38499995A>TCA507353791RYR1c.7302A>T (p.Gly2434=)
c.7299A>T (p.Gly2433=)
c.754A>T
n.7385A>T
19g.38499996C>ACA405669586RYR1c.7303C>A (p.Arg2435Ser)
c.7300C>A (p.Arg2434Ser)
c.755C>A
n.7386C>A
19g.38499996C=CA2335053044RYR1c.7303C= (p.Arg2435=)
c.7300C= (p.Arg2434=)
c.755C=
n.7386C=
19g.38499996C>GCA405669588RYR1c.7303C>G (p.Arg2435Gly)
c.7300C>G (p.Arg2434Gly)
c.755C>G
n.7386C>G
19g.38499996C>TCA405669590RYR1c.7303C>T (p.Arg2435Cys)
c.7300C>T (p.Arg2434Cys)
c.755C>T
n.7386C>T
ClinVar dbSNP gnomAD v4 COSMIC
19g.38499997G>ACA024750RYR1c.7304G>A (p.Arg2435His)
c.7301G>A (p.Arg2434His)
c.756G>A
n.7387G>A
ClinVar dbSNP gnomAD v4
19g.38499997G>CCA405669594RYR1c.7304G>C (p.Arg2435Pro)
c.7301G>C (p.Arg2434Pro)
c.756G>C
n.7387G>C
19g.38499997G=CA2335053045RYR1c.7304G= (p.Arg2435=)
c.7301G= (p.Arg2434=)
c.756G=
n.7387G=
19g.38499997G>TCA024753RYR1c.7304G>T (p.Arg2435Leu)
c.7301G>T (p.Arg2434Leu)
c.756G>T
n.7387G>T
ClinVar dbSNP gnomAD v4
19g.38499998C>ACA507353792RYR1c.7305C>A (p.Arg2435=)
c.7302C>A (p.Arg2434=)
c.757C>A
n.7388C>A
19g.38499998C=CA2335053047RYR1c.7305C= (p.Arg2435=)
c.7302C= (p.Arg2434=)
c.757C=
n.7388C=
19g.38499998C>GCA507353793RYR1c.7305C>G (p.Arg2435=)
c.7302C>G (p.Arg2434=)
c.757C>G
n.7388C>G
ClinVar
19g.38499998C>TCA507353794RYR1c.7305C>T (p.Arg2435=)
c.7302C>T (p.Arg2434=)
c.757C>T
n.7388C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38499998_38500000delinsCTGCA2335053046RYR1c.7305_7307delinsCTG (p.Arg2435=)
c.7302_7304delinsCTG (p.Arg2434=)
c.757_759delinsCTG
n.7388_7390delinsCTG
19g.38499999T>ACA405669612RYR1c.7306T>A (p.Cys2436Ser)
c.7303T>A (p.Cys2435Ser)
c.758T>A
n.7389T>A
19g.38499999T>CCA405669615RYR1c.7306T>C (p.Cys2436Arg)
c.7303T>C (p.Cys2435Arg)
c.758T>C
n.7389T>C
gnomAD v4
19g.38499999T>GCA405669614RYR1c.7306T>G (p.Cys2436Gly)
c.7303T>G (p.Cys2435Gly)
c.758T>G
n.7389T>G
19g.38500001_38500002delCA069470RYR1c.7308_7309del (p.Ala2437ThrfsTer12)
c.7305_7306del (p.Ala2436ThrfsTer12)
c.760_761del
n.7391_7392del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500000G>ACA405669616RYR1c.7307G>A (p.Cys2436Tyr)
c.7304G>A (p.Cys2435Tyr)
c.759G>A
n.7390G>A
ClinVar dbSNP gnomAD v4
19g.38500000G>CCA405669618RYR1c.7307G>C (p.Cys2436Ser)
c.7304G>C (p.Cys2435Ser)
c.759G>C
n.7390G>C
19g.38500000G=CA2740130092RYR1c.7307G= (p.Cys2436=)
c.7304G= (p.Cys2435=)
c.759G=
n.7390G=
19g.38500000G>TCA405669620RYR1c.7307G>T (p.Cys2436Phe)
c.7304G>T (p.Cys2435Phe)
c.759G>T
n.7390G>T
19g.38500001T>ACA405669622RYR1c.7308T>A (p.Cys2436Ter)
c.7305T>A (p.Cys2435Ter)
c.760T>A
n.7391T>A
19g.38500001T>CCA069474RYR1c.7308T>C (p.Cys2436=)
c.7305T>C (p.Cys2435=)
c.760T>C
n.7391T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500001T>GCA405669624RYR1c.7308T>G (p.Cys2436Trp)
c.7305T>G (p.Cys2435Trp)
c.760T>G
n.7391T>G
19g.38500001T=CA2335053048RYR1c.7308T= (p.Cys2436=)
c.7305T= (p.Cys2435=)
c.760T=
n.7391T=
19g.38500002G>ACA405669626RYR1c.7309G>A (p.Ala2437Thr)
c.7306G>A (p.Ala2436Thr)
c.761G>A
n.7392G>A
19g.38500002G>CCA405669628RYR1c.7309G>C (p.Ala2437Pro)
c.7306G>C (p.Ala2436Pro)
c.761G>C
n.7392G>C
19g.38500002G>TCA405669635RYR1c.7309G>T (p.Ala2437Ser)
c.7306G>T (p.Ala2436Ser)
c.761G>T
n.7392G>T
19g.38500003C>ACA405669640RYR1c.7310C>A (p.Ala2437Glu)
c.7307C>A (p.Ala2436Glu)
c.762C>A
n.7393C>A
19g.38500003C=CA2335053049RYR1c.7310C= (p.Ala2437=)
c.7307C= (p.Ala2436=)
c.762C=
n.7393C=
19g.38500003C>GCA405669638RYR1c.7310C>G (p.Ala2437Gly)
c.7307C>G (p.Ala2436Gly)
c.762C>G
n.7393C>G
19g.38500003C>TCA024756RYR1c.7310C>T (p.Ala2437Val)
c.7307C>T (p.Ala2436Val)
c.762C>T
n.7393C>T
ClinVar dbSNP
19g.38500004A=CA2335053050RYR1c.7311A= (p.Ala2437=)
c.7308A= (p.Ala2436=)
c.763A=
n.7394A=
19g.38500004A>CCA308109874RYR1c.7311A>C (p.Ala2437=)
c.7308A>C (p.Ala2436=)
c.763A>C
n.7394A>C
dbSNP
19g.38500004A>GCA507353803RYR1c.7311A>G (p.Ala2437=)
c.7308A>G (p.Ala2436=)
c.763A>G
n.7394A>G
ClinVar gnomAD v4
19g.38500004A>TCA507353804RYR1c.7311A>T (p.Ala2437=)
c.7308A>T (p.Ala2436=)
c.763A>T
n.7394A>T
19g.38500005C>ACA405669642RYR1c.7312C>A (p.Pro2438Thr)
c.7309C>A (p.Pro2437Thr)
c.764C>A
n.7395C>A
19g.38500005C>GCA405669645RYR1c.7312C>G (p.Pro2438Ala)
c.7309C>G (p.Pro2437Ala)
c.764C>G
n.7395C>G
gnomAD v4
19g.38500005C>TCA405669643RYR1c.7312C>T (p.Pro2438Ser)
c.7309C>T (p.Pro2437Ser)
c.764C>T
n.7395C>T
gnomAD v3 gnomAD v4
19g.38500006C>ACA405669650RYR1c.7313C>A (p.Pro2438Gln)
c.7310C>A (p.Pro2437Gln)
c.765C>A
n.7396C>A
19g.38500006C>GCA405669651RYR1c.7313C>G (p.Pro2438Arg)
c.7310C>G (p.Pro2437Arg)
c.765C>G
n.7396C>G
19g.38500006C>TCA405669657RYR1c.7313C>T (p.Pro2438Leu)
c.7310C>T (p.Pro2437Leu)
c.765C>T
n.7396C>T
19g.38500007A=CA2335053051RYR1c.7314A= (p.Pro2438=)
c.7311A= (p.Pro2437=)
c.766A=
n.7397A=
19g.38500007A>CCA507353806RYR1c.7314A>C (p.Pro2438=)
c.7311A>C (p.Pro2437=)
c.766A>C
n.7397A>C
19g.38500007A>GCA507353807RYR1c.7314A>G (p.Pro2438=)
c.7311A>G (p.Pro2437=)
c.766A>G
n.7397A>G
ClinVar dbSNP gnomAD v4
19g.38500007A>TCA507353808RYR1c.7314A>T (p.Pro2438=)
c.7311A>T (p.Pro2437=)
c.766A>T
n.7397A>T
19g.38500008G>ACA405669658RYR1c.7315G>A (p.Glu2439Lys)
c.7312G>A (p.Glu2438Lys)
c.767G>A
n.7398G>A
ClinVar dbSNP
19g.38500008G>CCA405669659RYR1c.7315G>C (p.Glu2439Gln)
c.7312G>C (p.Glu2438Gln)
c.767G>C
n.7398G>C
19g.38500008G=CA2335053052RYR1c.7315G= (p.Glu2439=)
c.7312G= (p.Glu2438=)
c.767G=
n.7398G=
19g.38500008G>TCA405669660RYR1c.7315G>T (p.Glu2439Ter)
c.7312G>T (p.Glu2438Ter)
c.767G>T
n.7398G>T
gnomAD v4
19g.38500009A>CCA405669666RYR1c.7316A>C (p.Glu2439Ala)
c.7313A>C (p.Glu2438Ala)
c.768A>C
n.7399A>C
19g.38500009A>GCA405669662RYR1c.7316A>G (p.Glu2439Gly)
c.7313A>G (p.Glu2438Gly)
c.768A>G
n.7399A>G
ClinVar
19g.38500009A>TCA405669664RYR1c.7316A>T (p.Glu2439Val)
c.7313A>T (p.Glu2438Val)
c.768A>T
n.7399A>T
19g.38500010G>ACA507353812RYR1c.7317G>A (p.Glu2439=)
c.7314G>A (p.Glu2438=)
c.769G>A
n.7400G>A
19g.38500010G>CCA024758RYR1c.7317G>C (p.Glu2439Asp)
c.7314G>C (p.Glu2438Asp)
c.769G>C
n.7400G>C
ClinVar dbSNP
19g.38500010G=CA2335053053RYR1c.7317G= (p.Glu2439=)
c.7314G= (p.Glu2438=)
c.769G=
n.7400G=
19g.38500010G>TCA405669669RYR1c.7317G>T (p.Glu2439Asp)
c.7314G>T (p.Glu2438Asp)
c.769G>T
n.7400G>T
19g.38500011A>CCA405669670RYR1c.7318A>C (p.Met2440Leu)
c.7315A>C (p.Met2439Leu)
c.770A>C
n.7401A>C
19g.38500011A>GCA405669671RYR1c.7318A>G (p.Met2440Val)
c.7315A>G (p.Met2439Val)
c.770A>G
n.7401A>G
19g.38500011A>TCA405669672RYR1c.7318A>T (p.Met2440Leu)
c.7315A>T (p.Met2439Leu)
c.770A>T
n.7401A>T
19g.38500012T>ACA405669675RYR1c.7319T>A (p.Met2440Lys)
c.7316T>A (p.Met2439Lys)
c.771T>A
n.7402T>A
19g.38500012T>CCA405669677RYR1c.7319T>C (p.Met2440Thr)
c.7316T>C (p.Met2439Thr)
c.771T>C
n.7402T>C
19g.38500012T>GCA405669676RYR1c.7319T>G (p.Met2440Arg)
c.7316T>G (p.Met2439Arg)
c.771T>G
n.7402T>G
19g.38500013G>ACA405669679RYR1c.7320G>A (p.Met2440Ile)
c.7317G>A (p.Met2439Ile)
c.772G>A
n.7403G>A
gnomAD v4
19g.38500013G>CCA405669681RYR1c.7320G>C (p.Met2440Ile)
c.7317G>C (p.Met2439Ile)
c.772G>C
n.7403G>C
19g.38500013G=CA2335053054RYR1c.7320G= (p.Met2440=)
c.7317G= (p.Met2439=)
c.772G=
n.7403G=
19g.38500013G>TCA308109894RYR1c.7320G>T (p.Met2440Ile)
c.7317G>T (p.Met2439Ile)
c.772G>T
n.7403G>T
dbSNP
19g.38500014C>ACA405669683RYR1c.7321C>A (p.His2441Asn)
c.7318C>A (p.His2440Asn)
c.773C>A
n.7404C>A
19g.38500014C=CA2335053055RYR1c.7321C= (p.His2441=)
c.7318C= (p.His2440=)
c.773C=
n.7404C=
19g.38500014C>GCA069482RYR1c.7321C>G (p.His2441Asp)
c.7318C>G (p.His2440Asp)
c.773C>G
n.7404C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500014C>TCA405669684RYR1c.7321C>T (p.His2441Tyr)
c.7318C>T (p.His2440Tyr)
c.773C>T
n.7404C>T
19g.38500015A>CCA405669685RYR1c.7322A>C (p.His2441Pro)
c.7319A>C (p.His2440Pro)
c.774A>C
n.7405A>C
gnomAD v4
19g.38500015A>GCA405669688RYR1c.7322A>G (p.His2441Arg)
c.7319A>G (p.His2440Arg)
c.774A>G
n.7405A>G
19g.38500015A>TCA405669691RYR1c.7322A>T (p.His2441Leu)
c.7319A>T (p.His2440Leu)
c.774A>T
n.7405A>T
19g.38500016T>ACA405669695RYR1c.7323T>A (p.His2441Gln)
c.7320T>A (p.His2440Gln)
c.775T>A
n.7406T>A
19g.38500016T>CCA308109898RYR1c.7323T>C (p.His2441=)
c.7320T>C (p.His2440=)
c.775T>C
n.7406T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500016T>GCA405669697RYR1c.7323T>G (p.His2441Gln)
c.7320T>G (p.His2440Gln)
c.775T>G
n.7406T>G
dbSNP
19g.38500016T=CA2335053056RYR1c.7323T= (p.His2441=)
c.7320T= (p.His2440=)
c.775T=
n.7406T=
19g.38500017G>ACA069484RYR1c.7323+1G>A (n.7323+1G>A)
c.7320+1G>A (n.7320+1G>A)
c.775+1G>A
n.7406+1G>A
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500017G>CCA405669709RYR1c.7323+1G>C (n.7323+1G>C)
c.7320+1G>C (n.7320+1G>C)
c.775+1G>C
n.7406+1G>C
19g.38500017G=CA2335053057RYR1c.7323+1G= (n.7323+1G=)
c.7320+1G= (n.7320+1G=)
c.775+1G=
n.7406+1G=
19g.38500017G>TCA405669706RYR1c.7323+1G>T (n.7323+1G>T)
c.7320+1G>T (n.7320+1G>T)
c.775+1G>T
n.7406+1G>T
19g.38500018T>ACA405669713RYR1c.7323+2T>A (n.7323+2T>A)
c.7320+2T>A (n.7320+2T>A)
c.775+2T>A
n.7406+2T>A
19g.38500018T>CCA405669714RYR1c.7323+2T>C (n.7323+2T>C)
c.7320+2T>C (n.7320+2T>C)
c.775+2T>C
n.7406+2T>C
19g.38500018T>GCA405669715RYR1c.7323+2T>G (n.7323+2T>G)
c.7320+2T>G (n.7320+2T>G)
c.775+2T>G
n.7406+2T>G
19g.38500019G>ACA2576771092RYR1c.7323+3G>A (n.7323+3G>A)
c.7320+3G>A (n.7320+3G>A)
c.775+3G>A
n.7406+3G>A
19g.38500021G>TCA2584900092RYR1c.7323+5G>T (n.7323+5G>T)
c.7320+5G>T (n.7320+5G>T)
c.775+5G>T
n.7406+5G>T
gnomAD v4
19g.38500023C>ACA069509RYR1c.7323+7C>A (n.7323+7C>A)
c.7320+7C>A (n.7320+7C>A)
c.775+7C>A
n.7406+7C>A
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500023C=CA2335053058RYR1c.7323+7C= (n.7323+7C=)
c.7320+7C= (n.7320+7C=)
c.775+7C=
n.7406+7C=
19g.38500024C>ACA069513RYR1c.7323+8C>A (n.7323+8C>A)
c.7320+8C>A (n.7320+8C>A)
c.775+8C>A
n.7406+8C>A
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500024C=CA2335053059RYR1c.7323+8C= (n.7323+8C=)
c.7320+8C= (n.7320+8C=)
c.775+8C=
n.7406+8C=
19g.38500024C>TCA2739276776RYR1c.7323+8C>T (n.7323+8C>T)
c.7320+8C>T (n.7320+8C>T)
c.775+8C>T
n.7406+8C>T
ClinVar
19g.38500026T>GCA2740096895RYR1c.7323+10T>G (n.7323+10T>G)
c.7320+10T>G (n.7320+10T>G)
c.775+10T>G
n.7406+10T>G
ClinVar
19g.38500027G>ACA882051824RYR1c.7323+11G>A (n.7323+11G>A)
c.7320+11G>A (n.7320+11G>A)
c.775+11G>A
n.7406+11G>A
dbSNP gnomAD v3 gnomAD v4
19g.38500027G>CCA2576771093RYR1c.7323+11G>C (n.7323+11G>C)
c.7320+11G>C (n.7320+11G>C)
c.775+11G>C
n.7406+11G>C
19g.38500027G=CA2335053060RYR1c.7323+11G= (n.7323+11G=)
c.7320+11G= (n.7320+11G=)
c.775+11G=
n.7406+11G=
19g.38500027G>TCA2584900093RYR1c.7323+11G>T (n.7323+11G>T)
c.7320+11G>T (n.7320+11G>T)
c.775+11G>T
n.7406+11G>T
gnomAD v4
19g.38500029G>ACA633066136RYR1c.7323+13G>A (n.7323+13G>A)
c.7320+13G>A (n.7320+13G>A)
c.775+13G>A
n.7406+13G>A
dbSNP gnomAD v2
19g.38500029G=CA2335053061RYR1c.7323+13G= (n.7323+13G=)
c.7320+13G= (n.7320+13G=)
c.775+13G=
n.7406+13G=
19g.38500031_38500036delCA2580097211RYR1c.7323+15_7323+20del (n.7323+15_7323+20del)
c.7320+15_7320+20del (n.7320+15_7320+20del)
c.775+15_775+20del
n.7406+15_7406+20del
ClinVar gnomAD v4
19g.38500030C>TCA2584900094RYR1c.7323+14C>T (n.7323+14C>T)
c.7320+14C>T (n.7320+14C>T)
c.775+14C>T
n.7406+14C>T
gnomAD v4
19g.38500031C>ACA2576771094RYR1c.7323+15C>A (n.7323+15C>A)
c.7320+15C>A (n.7320+15C>A)
c.775+15C>A
n.7406+15C>A
19g.38500032A>GCA2584900095RYR1c.7323+16A>G (n.7323+16A>G)
c.7320+16A>G (n.7320+16A>G)
c.775+16A>G
n.7406+16A>G
gnomAD v4
19g.38500040_38500057dupCA2740096896RYR1c.7323+24_7323+41dup (n.7323+24_7323+41dup)
c.7320+24_7320+41dup (n.7320+24_7320+41dup)
c.775+24_775+41dup
n.7406+24_7406+41dup
ClinVar
19g.38500033G>ACA308109904RYR1c.7323+17G>A (n.7323+17G>A)
c.7320+17G>A (n.7320+17G>A)
c.775+17G>A
n.7406+17G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38500033G=CA2335053062RYR1c.7323+17G= (n.7323+17G=)
c.7320+17G= (n.7320+17G=)
c.775+17G=
n.7406+17G=
19g.38500035G>ACA2584900096RYR1c.7323+19G>A (n.7323+19G>A)
c.7320+19G>A (n.7320+19G>A)
c.775+19G>A
n.7406+19G>A
gnomAD v4
19g.38500036C>ACA024761RYR1c.7323+20C>A (n.7323+20C>A)
c.7320+20C>A (n.7320+20C>A)
c.775+20C>A
n.7406+20C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500036C=CA2335053063RYR1c.7323+20C= (n.7323+20C=)
c.7320+20C= (n.7320+20C=)
c.775+20C=
n.7406+20C=
19g.38500036C>GCA2581382501RYR1c.7323+20C>G (n.7323+20C>G)
c.7320+20C>G (n.7320+20C>G)
c.775+20C>G
n.7406+20C>G
19g.38500036C>TCA308109906RYR1c.7323+20C>T (n.7323+20C>T)
c.7320+20C>T (n.7320+20C>T)
c.775+20C>T
n.7406+20C>T
dbSNP COSMIC
19g.38500038G>ACA2576771095RYR1c.7323+22G>A (n.7323+22G>A)
c.7320+22G>A (n.7320+22G>A)
c.775+22G>A
n.7406+22G>A
19g.38500038G>TCA657360681RYR1c.7323+22G>T (n.7323+22G>T)
c.7320+22G>T (n.7320+22G>T)
c.775+22G>T
n.7406+22G>T
COSMIC
19g.38500039G>ACA069490RYR1c.7323+23G>A (n.7323+23G>A)
c.7320+23G>A (n.7320+23G>A)
c.775+23G>A
n.7406+23G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500039G=CA2335053064RYR1c.7323+23G= (n.7323+23G=)
c.7320+23G= (n.7320+23G=)
c.775+23G=
n.7406+23G=
19g.38500039G>TCA2584900097RYR1c.7323+23G>T (n.7323+23G>T)
c.7320+23G>T (n.7320+23G>T)
c.775+23G>T
n.7406+23G>T
gnomAD v4
19g.38500041T>CCA2584900098RYR1c.7323+25T>C (n.7323+25T>C)
c.7320+25T>C (n.7320+25T>C)
c.775+25T>C
n.7406+25T>C
gnomAD v4
19g.38500041T>GCA2335053066RYR1c.7323+25T>G (n.7323+25T>G)
c.7320+25T>G (n.7320+25T>G)
c.775+25T>G
n.7406+25T>G
dbSNP gnomAD v4
19g.38500041T=CA2335053065RYR1c.7323+25T= (n.7323+25T=)
c.7320+25T= (n.7320+25T=)
c.775+25T=
n.7406+25T=
19g.38500042G>ACA308109922RYR1c.7323+26G>A (n.7323+26G>A)
c.7320+26G>A (n.7320+26G>A)
c.775+26G>A
n.7406+26G>A
dbSNP gnomAD v2 gnomAD v4
19g.38500042G=CA2335053067RYR1c.7323+26G= (n.7323+26G=)
c.7320+26G= (n.7320+26G=)
c.775+26G=
n.7406+26G=
19g.38500042G>TCA2584900099RYR1c.7323+26G>T (n.7323+26G>T)
c.7320+26G>T (n.7320+26G>T)
c.775+26G>T
n.7406+26G>T
gnomAD v4
19g.38500043G>TCA2584900100RYR1c.7323+27G>T (n.7323+27G>T)
c.7320+27G>T (n.7320+27G>T)
c.775+27G>T
n.7406+27G>T
gnomAD v4
19g.38500044G>ACA069493RYR1c.7323+28G>A (n.7323+28G>A)
c.7320+28G>A (n.7320+28G>A)
c.775+28G>A
n.7406+28G>A
dbSNP ExAC gnomAD v2
19g.38500044G=CA2335053068RYR1c.7323+28G= (n.7323+28G=)
c.7320+28G= (n.7320+28G=)
c.775+28G=
n.7406+28G=
19g.38500044G>TCA2814346226RYR1c.7323+28G>T (n.7323+28G>T)
c.7320+28G>T (n.7320+28G>T)
c.775+28G>T
n.7406+28G>T
19g.38500047G>ACA069497RYR1c.7323+31G>A (n.7323+31G>A)
c.7320+31G>A (n.7320+31G>A)
c.775+31G>A
n.7406+31G>A
dbSNP ExAC gnomAD v2 gnomAD v4
19g.38500047G=CA2335053069RYR1c.7323+31G= (n.7323+31G=)
c.7320+31G= (n.7320+31G=)
c.775+31G=
n.7406+31G=
19g.38500047G>TCA2584900102RYR1c.7323+31G>T (n.7323+31G>T)
c.7320+31G>T (n.7320+31G>T)
c.775+31G>T
n.7406+31G>T
gnomAD v4
19g.38500048G>ACA633066137RYR1c.7323+32G>A (n.7323+32G>A)
c.7320+32G>A (n.7320+32G>A)
c.775+32G>A
n.7406+32G>A
dbSNP gnomAD v2
19g.38500048G>CCA633066138RYR1c.7323+32G>C (n.7323+32G>C)
c.7320+32G>C (n.7320+32G>C)
c.775+32G>C
n.7406+32G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38500048G=CA2335053070RYR1c.7323+32G= (n.7323+32G=)
c.7320+32G= (n.7320+32G=)
c.775+32G=
n.7406+32G=
19g.38500048G>TCA2584900106RYR1c.7323+32G>T (n.7323+32G>T)
c.7320+32G>T (n.7320+32G>T)
c.775+32G>T
n.7406+32G>T
gnomAD v4
19g.38500049G>CCA2584900107RYR1c.7323+33G>C (n.7323+33G>C)
c.7320+33G>C (n.7320+33G>C)
c.775+33G>C
n.7406+33G>C
dbSNP gnomAD v4
19g.38500049G>TCA2584900108RYR1c.7323+33G>T (n.7323+33G>T)
c.7320+33G>T (n.7320+33G>T)
c.775+33G>T
n.7406+33G>T
gnomAD v4
19g.38500051G>ACA2584900109RYR1c.7323+35G>A (n.7323+35G>A)
c.7320+35G>A (n.7320+35G>A)
c.775+35G>A
n.7406+35G>A
gnomAD v4
19g.38500051G>TCA2584900110RYR1c.7323+35G>T (n.7323+35G>T)
c.7320+35G>T (n.7320+35G>T)
c.775+35G>T
n.7406+35G>T
gnomAD v4
19g.38500052G>TCA2814346228RYR1c.7323+36G>T (n.7323+36G>T)
c.7320+36G>T (n.7320+36G>T)
c.775+36G>T
n.7406+36G>T
19g.38500053G>ACA2584900111RYR1c.7323+37G>A (n.7323+37G>A)
c.7320+37G>A (n.7320+37G>A)
c.775+37G>A
n.7406+37G>A
gnomAD v4
19g.38500054C>ACA2584900112RYR1c.7323+38C>A (n.7323+38C>A)
c.7320+38C>A (n.7320+38C>A)
c.775+38C>A
n.7406+38C>A
gnomAD v4
19g.38500055A=CA2335053071RYR1c.7323+39A= (n.7323+39A=)
c.7320+39A= (n.7320+39A=)
c.775+39A=
n.7406+39A=
19g.38500055A>CCA2335053072RYR1c.7323+39A>C (n.7323+39A>C)
c.7320+39A>C (n.7320+39A>C)
c.775+39A>C
n.7406+39A>C
dbSNP gnomAD v4
19g.38500057G>ACA633066139RYR1c.7323+41G>A (n.7323+41G>A)
c.7320+41G>A (n.7320+41G>A)
c.775+41G>A
n.7406+41G>A
dbSNP gnomAD v2 gnomAD v4
19g.38500057G>CCA2584900114RYR1c.7323+41G>C (n.7323+41G>C)
c.7320+41G>C (n.7320+41G>C)
c.775+41G>C
n.7406+41G>C
gnomAD v4
19g.38500057G=CA2335053073RYR1c.7323+41G= (n.7323+41G=)
c.7320+41G= (n.7320+41G=)
c.775+41G=
n.7406+41G=
19g.38500058C>GCA2584900115RYR1c.7323+42C>G (n.7323+42C>G)
c.7320+42C>G (n.7320+42C>G)
c.775+42C>G
n.7406+42C>G
gnomAD v4
19g.38500059A=CA2335053074RYR1c.7323+43A= (n.7323+43A=)
c.7320+43A= (n.7320+43A=)
c.775+43A=
n.7406+43A=
19g.38500059A>CCA2584900116RYR1c.7323+43A>C (n.7323+43A>C)
c.7320+43A>C (n.7320+43A>C)
c.775+43A>C
n.7406+43A>C
gnomAD v4
19g.38500059A>GCA2335053075RYR1c.7323+43A>G (n.7323+43A>G)
c.7320+43A>G (n.7320+43A>G)
c.775+43A>G
n.7406+43A>G
dbSNP
19g.38500061A>GCA2814346229RYR1c.7323+45A>G (n.7323+45A>G)
c.7320+45A>G (n.7320+45A>G)
c.775+45A>G
n.7406+45A>G
19g.38500062G>ACA633066140RYR1c.7323+46G>A (n.7323+46G>A)
c.7320+46G>A (n.7320+46G>A)
c.775+46G>A
n.7406+46G>A
dbSNP gnomAD v2 gnomAD v4
19g.38500062G=CA2335053076RYR1c.7323+46G= (n.7323+46G=)
c.7320+46G= (n.7320+46G=)
c.775+46G=
n.7406+46G=
19g.38500063C>ACA2584900118RYR1c.7323+47C>A (n.7323+47C>A)
c.7320+47C>A (n.7320+47C>A)
c.775+47C>A
n.7406+47C>A
gnomAD v4
19g.38500063C>TCA2584900120RYR1c.7323+47C>T (n.7323+47C>T)
c.7320+47C>T (n.7320+47C>T)
c.775+47C>T
n.7406+47C>T
gnomAD v4
19g.38500064C>ACA2576771096RYR1c.7323+48C>A (n.7323+48C>A)
c.7320+48C>A (n.7320+48C>A)
c.775+48C>A
n.7406+48C>A
gnomAD v4
19g.38500064C=CA2335053077RYR1c.7323+48C= (n.7323+48C=)
c.7320+48C= (n.7320+48C=)
c.775+48C=
n.7406+48C=
19g.38500064C>GCA633066141RYR1c.7323+48C>G (n.7323+48C>G)
c.7320+48C>G (n.7320+48C>G)
c.775+48C>G
n.7406+48C>G
dbSNP gnomAD v2 gnomAD v4
19g.38500064C>TCA069500RYR1c.7323+48C>T (n.7323+48C>T)
c.7320+48C>T (n.7320+48C>T)
c.775+48C>T
n.7406+48C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500065G>ACA069502RYR1c.7323+49G>A (n.7323+49G>A)
c.7320+49G>A (n.7320+49G>A)
c.775+49G>A
n.7406+49G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500065G=CA2335053078RYR1c.7323+49G= (n.7323+49G=)
c.7320+49G= (n.7320+49G=)
c.775+49G=
n.7406+49G=
19g.38500065G>TCA2584900121RYR1c.7323+49G>T (n.7323+49G>T)
c.7320+49G>T (n.7320+49G>T)
c.775+49G>T
n.7406+49G>T
gnomAD v4
19g.38500066C=CA2335053079RYR1c.7323+50C= (n.7323+50C=)
c.7320+50C= (n.7320+50C=)
c.775+50C=
n.7406+50C=
19g.38500066C>TCA633066142RYR1c.7323+50C>T (n.7323+50C>T)
c.7320+50C>T (n.7320+50C>T)
c.775+50C>T
n.7406+50C>T
dbSNP gnomAD v2 gnomAD v4
19g.38500067T>CCA2584900122RYR1c.7323+51T>C (n.7323+51T>C)
c.7320+51T>C (n.7320+51T>C)
c.775+51T>C
n.7406+51T>C
dbSNP gnomAD v4
19g.38500068T>CCA069506RYR1c.7323+52T>C (n.7323+52T>C)
c.7320+52T>C (n.7320+52T>C)
c.775+52T>C
n.7406+52T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38500068T=CA2335053080RYR1c.7323+52T= (n.7323+52T=)
c.7320+52T= (n.7320+52T=)
c.775+52T=
n.7406+52T=

Number of alleles fetched