Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38510497G>ACA308123095RYR1c.8933-1G>A (n.8933-1G>A)
c.8930-1G>A (n.8930-1G>A)
c.2385-1G>A
n.9016-1G>A
 dbSNP
19g.38510497G>CCA405683275RYR1c.8933-1G>C (n.8933-1G>C)
c.8930-1G>C (n.8930-1G>C)
c.2385-1G>C
n.9016-1G>C
19g.38510497G=CA2335058790RYR1c.8933-1G= (n.8933-1G=)
c.8930-1G= (n.8930-1G=)
c.2385-1G=
n.9016-1G=
19g.38510497G>TCA405683273RYR1c.8933-1G>T (n.8933-1G>T)
c.8930-1G>T (n.8930-1G>T)
c.2385-1G>T
n.9016-1G>T
19g.38510498A>CCA405683278RYR1c.8933A>C (p.Glu2978Ala)
c.8930A>C (p.Glu2977Ala)
c.2385A>C
n.9016A>C
 COSMIC
19g.38510498A>GCA405683280RYR1c.8933A>G (p.Glu2978Gly)
c.8930A>G (p.Glu2977Gly)
c.2385A>G
n.9016A>G
19g.38510498A>TCA405683282RYR1c.8933A>T (p.Glu2978Val)
c.8930A>T (p.Glu2977Val)
c.2385A>T
n.9016A>T
19g.38510500_38510510delCA2697556552RYR1c.8935_8945del (p.Ala2979GlnfsTer10)
c.8932_8942del (p.Ala2978GlnfsTer10)
c.2387_2397del
n.9018_9028del
 ClinVar
19g.38510499G>ACA507246154RYR1c.8934G>A (p.Glu2978=)
c.8931G>A (p.Glu2977=)
c.2386G>A
n.9017G>A
19g.38510499G>CCA405683284RYR1c.8934G>C (p.Glu2978Asp)
c.8931G>C (p.Glu2977Asp)
c.2386G>C
n.9017G>C
 gnomAD v4
19g.38510499G>TCA405683285RYR1c.8934G>T (p.Glu2978Asp)
c.8931G>T (p.Glu2977Asp)
c.2386G>T
n.9017G>T
19g.38510500G>ACA405683290RYR1c.8935G>A (p.Ala2979Thr)
c.8932G>A (p.Ala2978Thr)
c.2387G>A
n.9018G>A
19g.38510500G>CCA405683289RYR1c.8935G>C (p.Ala2979Pro)
c.8932G>C (p.Ala2978Pro)
c.2387G>C
n.9018G>C
19g.38510500G>TCA405683287RYR1c.8935G>T (p.Ala2979Ser)
c.8932G>T (p.Ala2978Ser)
c.2387G>T
n.9018G>T
19g.38510501C>ACA405683293RYR1c.8936C>A (p.Ala2979Asp)
c.8933C>A (p.Ala2978Asp)
c.2388C>A
n.9019C>A
19g.38510501C=CA2335058791RYR1c.8936C= (p.Ala2979=)
c.8933C= (p.Ala2978=)
c.2388C=
n.9019C=
19g.38510501C>GCA405683295RYR1c.8936C>G (p.Ala2979Gly)
c.8933C>G (p.Ala2978Gly)
c.2388C>G
n.9019C>G
19g.38510501C>TCA405683297RYR1c.8936C>T (p.Ala2979Val)
c.8933C>T (p.Ala2978Val)
c.2388C>T
n.9019C>T
 COSMIC
19g.38510502T>ACA507246155RYR1c.8937T>A (p.Ala2979=)
c.8934T>A (p.Ala2978=)
c.2389T>A
n.9020T>A
19g.38510502T>CCA507246156RYR1c.8937T>C (p.Ala2979=)
c.8934T>C (p.Ala2978=)
c.2389T>C
n.9020T>C
19g.38510502T>GCA507246157RYR1c.8937T>G (p.Ala2979=)
c.8934T>G (p.Ala2978=)
c.2389T>G
n.9020T>G
19g.38510504_38510505dupCA882059559RYR1c.8939_8940dup (p.Val2981TrpfsTer26)
c.8936_8937dup (p.Val2980TrpfsTer26)
c.2391_2392dup
n.9022_9023dup
 dbSNP gnomAD v3 gnomAD v4
19g.38510503G>ACA405683299RYR1c.8938G>A (p.Val2980Met)
c.8935G>A (p.Val2979Met)
c.2390G>A
n.9021G>A
 dbSNP
19g.38510503G>CCA405683301RYR1c.8938G>C (p.Val2980Leu)
c.8935G>C (p.Val2979Leu)
c.2390G>C
n.9021G>C
19g.38510503G=CA2335058792RYR1c.8938G= (p.Val2980=)
c.8935G= (p.Val2979=)
c.2390G=
n.9021G=
19g.38510503G>TCA405683302RYR1c.8938G>T (p.Val2980Leu)
c.8935G>T (p.Val2979Leu)
c.2390G>T
n.9021G>T
19g.38510504T>ACA405683305RYR1c.8939T>A (p.Val2980Glu)
c.8936T>A (p.Val2979Glu)
c.2391T>A
n.9022T>A
19g.38510504T>CCA405683309RYR1c.8939T>C (p.Val2980Ala)
c.8936T>C (p.Val2979Ala)
c.2391T>C
n.9022T>C
 gnomAD v4
19g.38510504T>GCA405683307RYR1c.8939T>G (p.Val2980Gly)
c.8936T>G (p.Val2979Gly)
c.2391T>G
n.9022T>G
19g.38510505G>ACA507246158RYR1c.8940G>A (p.Val2980=)
c.8937G>A (p.Val2979=)
c.2392G>A
n.9023G>A
19g.38510505G>CCA084251RYR1c.8940G>C (p.Val2980=)
c.8937G>C (p.Val2979=)
c.2392G>C
n.9023G>C
19g.38510505G>TCA507246159RYR1c.8940G>T (p.Val2980=)
c.8937G>T (p.Val2979=)
c.2392G>T
n.9023G>T
 ClinVar
19g.38510506G>ACA405683311RYR1c.8941G>A (p.Val2981Ile)
c.8938G>A (p.Val2980Ile)
c.2393G>A
n.9024G>A
19g.38510506G>CCA405683313RYR1c.8941G>C (p.Val2981Leu)
c.8938G>C (p.Val2980Leu)
c.2393G>C
n.9024G>C
19g.38510506G>TCA405683314RYR1c.8941G>T (p.Val2981Phe)
c.8938G>T (p.Val2980Phe)
c.2393G>T
n.9024G>T
19g.38510507T>ACA405683316RYR1c.8942T>A (p.Val2981Asp)
c.8939T>A (p.Val2980Asp)
c.2394T>A
n.9025T>A
19g.38510507T>CCA405683318RYR1c.8942T>C (p.Val2981Ala)
c.8939T>C (p.Val2980Ala)
c.2394T>C
n.9025T>C
 dbSNP
19g.38510507T>GCA405683319RYR1c.8942T>G (p.Val2981Gly)
c.8939T>G (p.Val2980Gly)
c.2394T>G
n.9025T>G
 dbSNP
19g.38510507T=CA2335058793RYR1c.8942T= (p.Val2981=)
c.8939T= (p.Val2980=)
c.2394T=
n.9025T=
19g.38510508C>ACA507246160RYR1c.8943C>A (p.Val2981=)
c.8940C>A (p.Val2980=)
c.2395C>A
n.9026C>A
 gnomAD v4
19g.38510508C>GCA507246161RYR1c.8943C>G (p.Val2981=)
c.8940C>G (p.Val2980=)
c.2395C>G
n.9026C>G
 ClinVar
19g.38510508C>TCA507246162RYR1c.8943C>T (p.Val2981=)
c.8940C>T (p.Val2980=)
c.2395C>T
n.9026C>T
 gnomAD v4
19g.38510509A>CCA405683322RYR1c.8944A>C (p.Ser2982Arg)
c.8941A>C (p.Ser2981Arg)
c.2396A>C
n.9027A>C
19g.38510509A>GCA405683324RYR1c.8944A>G (p.Ser2982Gly)
c.8941A>G (p.Ser2981Gly)
c.2396A>G
n.9027A>G
19g.38510509A>TCA405683326RYR1c.8944A>T (p.Ser2982Cys)
c.8941A>T (p.Ser2981Cys)
c.2396A>T
n.9027A>T
19g.38510510G>ACA405683328RYR1c.8945G>A (p.Ser2982Asn)
c.8942G>A (p.Ser2981Asn)
c.2397G>A
n.9028G>A
19g.38510510G>CCA405683329RYR1c.8945G>C (p.Ser2982Thr)
c.8942G>C (p.Ser2981Thr)
c.2397G>C
n.9028G>C
19g.38510510G>TCA405683331RYR1c.8945G>T (p.Ser2982Ile)
c.8942G>T (p.Ser2981Ile)
c.2397G>T
n.9028G>T
19g.38510511C>ACA405683333RYR1c.8946C>A (p.Ser2982Arg)
c.8943C>A (p.Ser2981Arg)
c.2398C>A
n.9029C>A
19g.38510511C=CA2335058794RYR1c.8946C= (p.Ser2982=)
c.8943C= (p.Ser2981=)
c.2398C=
n.9029C=
19g.38510511C>GCA405683332RYR1c.8946C>G (p.Ser2982Arg)
c.8943C>G (p.Ser2981Arg)
c.2398C>G
n.9029C>G
19g.38510511C>TCA507246163RYR1c.8946C>T (p.Ser2982=)
c.8943C>T (p.Ser2981=)
c.2398C>T
n.9029C>T
 ClinVar dbSNP gnomAD v4
19g.38510512A>CCA405683338RYR1c.8947A>C (p.Ser2983Arg)
c.8944A>C (p.Ser2982Arg)
c.2399A>C
n.9030A>C
19g.38510512A>GCA405683342RYR1c.8947A>G (p.Ser2983Gly)
c.8944A>G (p.Ser2982Gly)
c.2399A>G
n.9030A>G
19g.38510512A>TCA405683340RYR1c.8947A>T (p.Ser2983Cys)
c.8944A>T (p.Ser2982Cys)
c.2399A>T
n.9030A>T
19g.38510513G>ACA405683345RYR1c.8948G>A (p.Ser2983Asn)
c.8945G>A (p.Ser2982Asn)
c.2400G>A
n.9031G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38510513G>CCA405683348RYR1c.8948G>C (p.Ser2983Thr)
c.8945G>C (p.Ser2982Thr)
c.2400G>C
n.9031G>C
 gnomAD v4
19g.38510513G=CA2335058795RYR1c.8948G= (p.Ser2983=)
c.8945G= (p.Ser2982=)
c.2400G=
n.9031G=
19g.38510513G>TCA405683346RYR1c.8948G>T (p.Ser2983Ile)
c.8945G>T (p.Ser2982Ile)
c.2400G>T
n.9031G>T
19g.38510514T>ACA405683350RYR1c.8949T>A (p.Ser2983Arg)
c.8946T>A (p.Ser2982Arg)
c.2401T>A
n.9032T>A
19g.38510514T>CCA024956RYR1c.8949T>C (p.Ser2983=)
c.8946T>C (p.Ser2982=)
c.2401T>C
n.9032T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510514T>GCA405683352RYR1c.8949T>G (p.Ser2983Arg)
c.8946T>G (p.Ser2982Arg)
c.2401T>G
n.9032T>G
19g.38510514T=CA2335058796RYR1c.8949T= (p.Ser2983=)
c.8946T= (p.Ser2982=)
c.2401T=
n.9032T=
19g.38510515G>ACA405683355RYR1c.8950G>A (p.Gly2984Arg)
c.8947G>A (p.Gly2983Arg)
c.2402G>A
n.9033G>A
19g.38510515G>CCA405683359RYR1c.8950G>C (p.Gly2984Arg)
c.8947G>C (p.Gly2983Arg)
c.2402G>C
n.9033G>C
19g.38510515G>TCA405683357RYR1c.8950G>T (p.Gly2984Trp)
c.8947G>T (p.Gly2983Trp)
c.2402G>T
n.9033G>T
19g.38510516G>ACA072979RYR1c.8951G>A (p.Gly2984Glu)
c.8948G>A (p.Gly2983Glu)
c.2403G>A
n.9034G>A
 ClinVar dbSNP ExAC gnomAD v4
19g.38510516G>CCA405683364RYR1c.8951G>C (p.Gly2984Ala)
c.8948G>C (p.Gly2983Ala)
c.2403G>C
n.9034G>C
19g.38510516G=CA2335058797RYR1c.8951G= (p.Gly2984=)
c.8948G= (p.Gly2983=)
c.2403G=
n.9034G=
19g.38510516G>TCA405683362RYR1c.8951G>T (p.Gly2984Val)
c.8948G>T (p.Gly2983Val)
c.2403G>T
n.9034G>T
19g.38510517G>ACA072983RYR1c.8952G>A (p.Gly2984=)
c.8949G>A (p.Gly2983=)
c.2404G>A
n.9035G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38510517G>CCA507246164RYR1c.8952G>C (p.Gly2984=)
c.8949G>C (p.Gly2983=)
c.2404G>C
n.9035G>C
19g.38510517G=CA2335058798RYR1c.8952G= (p.Gly2984=)
c.8949G= (p.Gly2983=)
c.2404G=
n.9035G=
19g.38510517G>TCA507246165RYR1c.8952G>T (p.Gly2984=)
c.8949G>T (p.Gly2983=)
c.2404G>T
n.9035G>T
19g.38510518C>ACA507246166RYR1c.8953C>A (p.Arg2985=)
c.8950C>A (p.Arg2984=)
c.2405C>A
n.9036C>A
19g.38510518C=CA2335058799RYR1c.8953C= (p.Arg2985=)
c.8950C= (p.Arg2984=)
c.2405C=
n.9036C=
19g.38510518C>GCA405683368RYR1c.8953C>G (p.Arg2985Gly)
c.8950C>G (p.Arg2984Gly)
c.2405C>G
n.9036C>G
19g.38510518C>TCA405683370RYR1c.8953C>T (p.Arg2985Ter)
c.8950C>T (p.Arg2984Ter)
c.2405C>T
n.9036C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.38510519G>ACA072988RYR1c.8954G>A (p.Arg2985Gln)
c.8951G>A (p.Arg2984Gln)
c.2406G>A
n.9037G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38510519G>CCA405683373RYR1c.8954G>C (p.Arg2985Pro)
c.8951G>C (p.Arg2984Pro)
c.2406G>C
n.9037G>C
19g.38510519G=CA2335058800RYR1c.8954G= (p.Arg2985=)
c.8951G= (p.Arg2984=)
c.2406G=
n.9037G=
19g.38510519G>TCA405683374RYR1c.8954G>T (p.Arg2985Leu)
c.8951G>T (p.Arg2984Leu)
c.2406G>T
n.9037G>T
 COSMIC
19g.38510520A=CA2335058801RYR1c.8955A= (p.Arg2985=)
c.8952A= (p.Arg2984=)
c.2407A=
n.9038A=
19g.38510520A>CCA507246167RYR1c.8955A>C (p.Arg2985=)
c.8952A>C (p.Arg2984=)
c.2407A>C
n.9038A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38510520A>GCA507246168RYR1c.8955A>G (p.Arg2985=)
c.8952A>G (p.Arg2984=)
c.2407A>G
n.9038A>G
 gnomAD v4
19g.38510520A>TCA507246169RYR1c.8955A>T (p.Arg2985=)
c.8952A>T (p.Arg2984=)
c.2407A>T
n.9038A>T
19g.38510521G>ACA405683378RYR1c.8956G>A (p.Val2986Met)
c.8953G>A (p.Val2985Met)
c.2408G>A
n.9039G>A
19g.38510521G>CCA405683377RYR1c.8956G>C (p.Val2986Leu)
c.8953G>C (p.Val2985Leu)
c.2408G>C
n.9039G>C
 dbSNP gnomAD v2
19g.38510521G=CA2335058802RYR1c.8956G= (p.Val2986=)
c.8953G= (p.Val2985=)
c.2408G=
n.9039G=
19g.38510521G>TCA405683375RYR1c.8956G>T (p.Val2986Leu)
c.8953G>T (p.Val2985Leu)
c.2408G>T
n.9039G>T
 dbSNP
19g.38510522T>ACA405683379RYR1c.8957T>A (p.Val2986Glu)
c.8954T>A (p.Val2985Glu)
c.2409T>A
n.9040T>A
19g.38510522T>CCA405683380RYR1c.8957T>C (p.Val2986Ala)
c.8954T>C (p.Val2985Ala)
c.2409T>C
n.9040T>C
19g.38510522T>GCA405683381RYR1c.8957T>G (p.Val2986Gly)
c.8954T>G (p.Val2985Gly)
c.2409T>G
n.9040T>G
 dbSNP gnomAD v3 gnomAD v4
19g.38510522T=CA2335058803RYR1c.8957T= (p.Val2986=)
c.8954T= (p.Val2985=)
c.2409T=
n.9040T=
19g.38510523G>ACA507246171RYR1c.8958G>A (p.Val2986=)
c.8955G>A (p.Val2985=)
c.2410G>A
n.9041G>A
 ClinVar
19g.38510523G>CCA507246172RYR1c.8958G>C (p.Val2986=)
c.8955G>C (p.Val2985=)
c.2410G>C
n.9041G>C
19g.38510523G>TCA507246173RYR1c.8958G>T (p.Val2986=)
c.8955G>T (p.Val2985=)
c.2410G>T
n.9041G>T
19g.38510524G>ACA405683382RYR1c.8959G>A (p.Glu2987Lys)
c.8956G>A (p.Glu2986Lys)
c.2411G>A
n.9042G>A
19g.38510524G>CCA072992RYR1c.8959G>C (p.Glu2987Gln)
c.8956G>C (p.Glu2986Gln)
c.2411G>C
n.9042G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510524G=CA2335058804RYR1c.8959G= (p.Glu2987=)
c.8956G= (p.Glu2986=)
c.2411G=
n.9042G=
19g.38510524G>TCA405683383RYR1c.8959G>T (p.Glu2987Ter)
c.8956G>T (p.Glu2986Ter)
c.2411G>T
n.9042G>T
19g.38510525A=CA2335058805RYR1c.8960A= (p.Glu2987=)
c.8957A= (p.Glu2986=)
c.2412A=
n.9043A=
19g.38510525A>CCA405683385RYR1c.8960A>C (p.Glu2987Ala)
c.8957A>C (p.Glu2986Ala)
c.2412A>C
n.9043A>C
19g.38510525A>GCA308123109RYR1c.8960A>G (p.Glu2987Gly)
c.8957A>G (p.Glu2986Gly)
c.2412A>G
n.9043A>G
 dbSNP gnomAD v2 gnomAD v4
19g.38510525A>TCA405683387RYR1c.8960A>T (p.Glu2987Val)
c.8957A>T (p.Glu2986Val)
c.2412A>T
n.9043A>T
19g.38510526A>CCA405683388RYR1c.8961A>C (p.Glu2987Asp)
c.8958A>C (p.Glu2986Asp)
c.2413A>C
n.9044A>C
19g.38510526A>GCA507246176RYR1c.8961A>G (p.Glu2987=)
c.8958A>G (p.Glu2986=)
c.2413A>G
n.9044A>G
19g.38510526A>TCA405683391RYR1c.8961A>T (p.Glu2987Asp)
c.8958A>T (p.Glu2986Asp)
c.2413A>T
n.9044A>T
19g.38510527A>CCA405683394RYR1c.8962A>C (p.Lys2988Gln)
c.8959A>C (p.Lys2987Gln)
c.2414A>C
n.9045A>C
19g.38510527A>GCA405683396RYR1c.8962A>G (p.Lys2988Glu)
c.8959A>G (p.Lys2987Glu)
c.2414A>G
n.9045A>G
19g.38510527A>TCA405683398RYR1c.8962A>T (p.Lys2988Ter)
c.8959A>T (p.Lys2987Ter)
c.2414A>T
n.9045A>T
19g.38510528A>CCA405683400RYR1c.8963A>C (p.Lys2988Thr)
c.8960A>C (p.Lys2987Thr)
c.2415A>C
n.9046A>C
19g.38510528A>GCA405683402RYR1c.8963A>G (p.Lys2988Arg)
c.8960A>G (p.Lys2987Arg)
c.2415A>G
n.9046A>G
19g.38510528A>TCA405683404RYR1c.8963A>T (p.Lys2988Met)
c.8960A>T (p.Lys2987Met)
c.2415A>T
n.9046A>T
19g.38510529G>ACA072996RYR1c.8964G>A (p.Lys2988=)
c.8961G>A (p.Lys2987=)
c.2416G>A
n.9047G>A
 dbSNP ExAC gnomAD v2
19g.38510529G>CCA405683408RYR1c.8964G>C (p.Lys2988Asn)
c.8961G>C (p.Lys2987Asn)
c.2416G>C
n.9047G>C
19g.38510529G=CA2335058806RYR1c.8964G= (p.Lys2988=)
c.8961G= (p.Lys2987=)
c.2416G=
n.9047G=
19g.38510529G>TCA405683410RYR1c.8964G>T (p.Lys2988Asn)
c.8961G>T (p.Lys2987Asn)
c.2416G>T
n.9047G>T
 gnomAD v4
19g.38510530T>ACA405683411RYR1c.8965T>A (p.Ser2989Thr)
c.8962T>A (p.Ser2988Thr)
c.2417T>A
n.9048T>A
19g.38510530T>CCA405683413RYR1c.8965T>C (p.Ser2989Pro)
c.8962T>C (p.Ser2988Pro)
c.2417T>C
n.9048T>C
19g.38510530T>GCA405683412RYR1c.8965T>G (p.Ser2989Ala)
c.8962T>G (p.Ser2988Ala)
c.2417T>G
n.9048T>G
19g.38510531C>ACA405683414RYR1c.8966C>A (p.Ser2989Tyr)
c.8963C>A (p.Ser2988Tyr)
c.2418C>A
n.9049C>A
19g.38510531C>GCA405683416RYR1c.8966C>G (p.Ser2989Cys)
c.8963C>G (p.Ser2988Cys)
c.2418C>G
n.9049C>G
 gnomAD v4
19g.38510531C>TCA405683417RYR1c.8966C>T (p.Ser2989Phe)
c.8963C>T (p.Ser2988Phe)
c.2418C>T
n.9049C>T
19g.38510534dupCA084238RYR1c.8969dup (p.His2991ThrfsTer2)
c.8966dup (p.His2990ThrfsTer2)
c.2421dup
n.9052dup
19g.38510532C>ACA507246177RYR1c.8967C>A (p.Ser2989=)
c.8964C>A (p.Ser2988=)
c.2419C>A
n.9050C>A
19g.38510532C>GCA507246178RYR1c.8967C>G (p.Ser2989=)
c.8964C>G (p.Ser2988=)
c.2419C>G
n.9050C>G
19g.38510532C>TCA507246179RYR1c.8967C>T (p.Ser2989=)
c.8964C>T (p.Ser2988=)
c.2419C>T
n.9050C>T
19g.38510533C>ACA405683418RYR1c.8968C>A (p.Pro2990Thr)
c.8965C>A (p.Pro2989Thr)
c.2420C>A
n.9051C>A
19g.38510533C>GCA405683419RYR1c.8968C>G (p.Pro2990Ala)
c.8965C>G (p.Pro2989Ala)
c.2420C>G
n.9051C>G
19g.38510533C>TCA405683420RYR1c.8968C>T (p.Pro2990Ser)
c.8965C>T (p.Pro2989Ser)
c.2420C>T
n.9051C>T
19g.38510534C>ACA405683421RYR1c.8969C>A (p.Pro2990Gln)
c.8966C>A (p.Pro2989Gln)
c.2421C>A
n.9052C>A
 ClinVar gnomAD v4
19g.38510534C=CA2335058807RYR1c.8969C= (p.Pro2990=)
c.8966C= (p.Pro2989=)
c.2421C=
n.9052C=
19g.38510534C>GCA405683422RYR1c.8969C>G (p.Pro2990Arg)
c.8966C>G (p.Pro2989Arg)
c.2421C>G
n.9052C>G
 ClinVar
19g.38510534C>TCA073000RYR1c.8969C>T (p.Pro2990Leu)
c.8966C>T (p.Pro2989Leu)
c.2421C>T
n.9052C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38510535A>CCA084239RYR1c.8970A>C (p.Pro2990=)
c.8967A>C (p.Pro2989=)
c.2422A>C
n.9053A>C
19g.38510535A>GCA507246181RYR1c.8970A>G (p.Pro2990=)
c.8967A>G (p.Pro2989=)
c.2422A>G
n.9053A>G
19g.38510535A>TCA507246182RYR1c.8970A>T (p.Pro2990=)
c.8967A>T (p.Pro2989=)
c.2422A>T
n.9053A>T
19g.38510536C>ACA405683423RYR1c.8971C>A (p.His2991Asn)
c.8968C>A (p.His2990Asn)
c.2423C>A
n.9054C>A
19g.38510536C=CA2335058808RYR1c.8971C= (p.His2991=)
c.8968C= (p.His2990=)
c.2423C=
n.9054C=
19g.38510536C>GCA405683424RYR1c.8971C>G (p.His2991Asp)
c.8968C>G (p.His2990Asp)
c.2423C>G
n.9054C>G
19g.38510536C>TCA405683425RYR1c.8971C>T (p.His2991Tyr)
c.8968C>T (p.His2990Tyr)
c.2423C>T
n.9054C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38510537A>CCA405683428RYR1c.8972A>C (p.His2991Pro)
c.8969A>C (p.His2990Pro)
c.2424A>C
n.9055A>C
19g.38510537A>GCA405683426RYR1c.8972A>G (p.His2991Arg)
c.8969A>G (p.His2990Arg)
c.2424A>G
n.9055A>G
19g.38510537A>TCA405683427RYR1c.8972A>T (p.His2991Leu)
c.8969A>T (p.His2990Leu)
c.2424A>T
n.9055A>T
19g.38510538T>ACA405683429RYR1c.8973T>A (p.His2991Gln)
c.8970T>A (p.His2990Gln)
c.2425T>A
n.9056T>A
19g.38510538T>CCA507246183RYR1c.8973T>C (p.His2991=)
c.8970T>C (p.His2990=)
c.2425T>C
n.9056T>C
 ClinVar dbSNP
19g.38510538T>GCA405683430RYR1c.8973T>G (p.His2991Gln)
c.8970T>G (p.His2990Gln)
c.2425T>G
n.9056T>G
19g.38510539G>ACA308123126RYR1c.8974G>A (p.Glu2992Lys)
c.8971G>A (p.Glu2991Lys)
c.2426G>A
n.9057G>A
 dbSNP
19g.38510539G>CCA405683431RYR1c.8974G>C (p.Glu2992Gln)
c.8971G>C (p.Glu2991Gln)
c.2426G>C
n.9057G>C
19g.38510539G=CA2335058809RYR1c.8974G= (p.Glu2992=)
c.8971G= (p.Glu2991=)
c.2426G=
n.9057G=
19g.38510539G>TCA405683432RYR1c.8974G>T (p.Glu2992Ter)
c.8971G>T (p.Glu2991Ter)
c.2426G>T
n.9057G>T
19g.38510540A>CCA405683433RYR1c.8975A>C (p.Glu2992Ala)
c.8972A>C (p.Glu2991Ala)
c.2427A>C
n.9058A>C
 gnomAD v4
19g.38510540A>GCA405683434RYR1c.8975A>G (p.Glu2992Gly)
c.8972A>G (p.Glu2991Gly)
c.2427A>G
n.9058A>G
19g.38510540A>TCA405683435RYR1c.8975A>T (p.Glu2992Val)
c.8972A>T (p.Glu2991Val)
c.2427A>T
n.9058A>T
19g.38510541A>CCA405683436RYR1c.8976A>C (p.Glu2992Asp)
c.8973A>C (p.Glu2991Asp)
c.2428A>C
n.9059A>C
19g.38510541A>GCA084241RYR1c.8976A>G (p.Glu2992=)
c.8973A>G (p.Glu2991=)
c.2428A>G
n.9059A>G
19g.38510541A>TCA405683437RYR1c.8976A>T (p.Glu2992Asp)
c.8973A>T (p.Glu2991Asp)
c.2428A>T
n.9059A>T
19g.38510542C>ACA405683439RYR1c.8977C>A (p.Gln2993Lys)
c.8974C>A (p.Gln2992Lys)
c.2429C>A
n.9060C>A
 ClinVar gnomAD v4
19g.38510542C=CA2335058810RYR1c.8977C= (p.Gln2993=)
c.8974C= (p.Gln2992=)
c.2429C=
n.9060C=
19g.38510542C>GCA405683438RYR1c.8977C>G (p.Gln2993Glu)
c.8974C>G (p.Gln2992Glu)
c.2429C>G
n.9060C>G
19g.38510542C>TCA073006RYR1c.8977C>T (p.Gln2993Ter)
c.8974C>T (p.Gln2992Ter)
c.2429C>T
n.9060C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510543A=CA2335058811RYR1c.8978A= (p.Gln2993=)
c.8975A= (p.Gln2992=)
c.2430A=
n.9061A=
19g.38510543A>CCA084243RYR1c.8978A>C (p.Gln2993Pro)
c.8975A>C (p.Gln2992Pro)
c.2430A>C
n.9061A>C
19g.38510543A>GCA405683441RYR1c.8978A>G (p.Gln2993Arg)
c.8975A>G (p.Gln2992Arg)
c.2430A>G
n.9061A>G
 ClinVar dbSNP
19g.38510543A>TCA405683440RYR1c.8978A>T (p.Gln2993Leu)
c.8975A>T (p.Gln2992Leu)
c.2430A>T
n.9061A>T
19g.38510544G>ACA507246185RYR1c.8979G>A (p.Gln2993=)
c.8976G>A (p.Gln2992=)
c.2431G>A
n.9062G>A
 dbSNP
19g.38510544G>CCA405683442RYR1c.8979G>C (p.Gln2993His)
c.8976G>C (p.Gln2992His)
c.2431G>C
n.9062G>C
19g.38510544G=CA2335058812RYR1c.8979G= (p.Gln2993=)
c.8976G= (p.Gln2992=)
c.2431G=
n.9062G=
19g.38510544G>TCA405683443RYR1c.8979G>T (p.Gln2993His)
c.8976G>T (p.Gln2992His)
c.2431G>T
n.9062G>T
19g.38510545G>ACA405683444RYR1c.8980G>A (p.Glu2994Lys)
c.8977G>A (p.Glu2993Lys)
c.2432G>A
n.9063G>A
19g.38510545G>CCA405683445RYR1c.8980G>C (p.Glu2994Gln)
c.8977G>C (p.Glu2993Gln)
c.2432G>C
n.9063G>C
 COSMIC
19g.38510545G>TCA405683446RYR1c.8980G>T (p.Glu2994Ter)
c.8977G>T (p.Glu2993Ter)
c.2432G>T
n.9063G>T
19g.38510546A>CCA405683447RYR1c.8981A>C (p.Glu2994Ala)
c.8978A>C (p.Glu2993Ala)
c.2433A>C
n.9064A>C
19g.38510546A>GCA405683448RYR1c.8981A>G (p.Glu2994Gly)
c.8978A>G (p.Glu2993Gly)
c.2433A>G
n.9064A>G
19g.38510546A>TCA405683449RYR1c.8981A>T (p.Glu2994Val)
c.8978A>T (p.Glu2993Val)
c.2433A>T
n.9064A>T
19g.38510547G>ACA507246186RYR1c.8982G>A (p.Glu2994=)
c.8979G>A (p.Glu2993=)
c.2434G>A
n.9065G>A
19g.38510547G>CCA405683450RYR1c.8982G>C (p.Glu2994Asp)
c.8979G>C (p.Glu2993Asp)
c.2434G>C
n.9065G>C
19g.38510547G>TCA405683451RYR1c.8982G>T (p.Glu2994Asp)
c.8979G>T (p.Glu2993Asp)
c.2434G>T
n.9065G>T
19g.38510548A=CA2335058813RYR1c.8983A= (p.Ile2995=)
c.8980A= (p.Ile2994=)
c.2435A=
n.9066A=
19g.38510548A>CCA405683452RYR1c.8983A>C (p.Ile2995Leu)
c.8980A>C (p.Ile2994Leu)
c.2435A>C
n.9066A>C
19g.38510548A>GCA405683453RYR1c.8983A>G (p.Ile2995Val)
c.8980A>G (p.Ile2994Val)
c.2435A>G
n.9066A>G
 dbSNP gnomAD v4
19g.38510548A>TCA405683454RYR1c.8983A>T (p.Ile2995Phe)
c.8980A>T (p.Ile2994Phe)
c.2435A>T
n.9066A>T
19g.38510549T>ACA405683455RYR1c.8984T>A (p.Ile2995Asn)
c.8981T>A (p.Ile2994Asn)
c.2436T>A
n.9067T>A
19g.38510549T>CCA405683457RYR1c.8984T>C (p.Ile2995Thr)
c.8981T>C (p.Ile2994Thr)
c.2436T>C
n.9067T>C
19g.38510549T>GCA405683456RYR1c.8984T>G (p.Ile2995Ser)
c.8981T>G (p.Ile2994Ser)
c.2436T>G
n.9067T>G
19g.38510550T>ACA507246187RYR1c.8985T>A (p.Ile2995=)
c.8982T>A (p.Ile2994=)
c.2437T>A
n.9068T>A
19g.38510550T>CCA084248RYR1c.8985T>C (p.Ile2995=)
c.8982T>C (p.Ile2994=)
c.2437T>C
n.9068T>C
19g.38510550T>GCA405683458RYR1c.8985T>G (p.Ile2995Met)
c.8982T>G (p.Ile2994Met)
c.2437T>G
n.9068T>G
19g.38510551A>CCA405683459RYR1c.8986A>C (p.Lys2996Gln)
c.8983A>C (p.Lys2995Gln)
c.2438A>C
n.9069A>C
19g.38510551A>GCA405683460RYR1c.8986A>G (p.Lys2996Glu)
c.8983A>G (p.Lys2995Glu)
c.2438A>G
n.9069A>G
19g.38510551A>TCA405683461RYR1c.8986A>T (p.Lys2996Ter)
c.8983A>T (p.Lys2995Ter)
c.2438A>T
n.9069A>T
19g.38510552A>CCA405683462RYR1c.8987A>C (p.Lys2996Thr)
c.8984A>C (p.Lys2995Thr)
c.2439A>C
n.9070A>C
19g.38510552A>GCA405683463RYR1c.8987A>G (p.Lys2996Arg)
c.8984A>G (p.Lys2995Arg)
c.2439A>G
n.9070A>G
19g.38510552A>TCA405683464RYR1c.8987A>T (p.Lys2996Ile)
c.8984A>T (p.Lys2995Ile)
c.2439A>T
n.9070A>T
19g.38510553A>CCA405683465RYR1c.8988A>C (p.Lys2996Asn)
c.8985A>C (p.Lys2995Asn)
c.2440A>C
n.9071A>C
19g.38510553A>GCA507246188RYR1c.8988A>G (p.Lys2996=)
c.8985A>G (p.Lys2995=)
c.2440A>G
n.9071A>G
 ClinVar dbSNP
19g.38510553A>TCA405683466RYR1c.8988A>T (p.Lys2996Asn)
c.8985A>T (p.Lys2995Asn)
c.2440A>T
n.9071A>T
19g.38510554T>ACA405683469RYR1c.8989T>A (p.Phe2997Ile)
c.8986T>A (p.Phe2996Ile)
c.2441T>A
n.9072T>A
19g.38510554T>CCA405683468RYR1c.8989T>C (p.Phe2997Leu)
c.8986T>C (p.Phe2996Leu)
c.2441T>C
n.9072T>C
19g.38510554T>GCA405683467RYR1c.8989T>G (p.Phe2997Val)
c.8986T>G (p.Phe2996Val)
c.2441T>G
n.9072T>G
19g.38510555T>ACA405683470RYR1c.8990T>A (p.Phe2997Tyr)
c.8987T>A (p.Phe2996Tyr)
c.2442T>A
n.9073T>A
19g.38510555T>CCA405683471RYR1c.8990T>C (p.Phe2997Ser)
c.8987T>C (p.Phe2996Ser)
c.2442T>C
n.9073T>C
19g.38510555T>GCA405683472RYR1c.8990T>G (p.Phe2997Cys)
c.8987T>G (p.Phe2996Cys)
c.2442T>G
n.9073T>G
19g.38510556C>ACA405683473RYR1c.8991C>A (p.Phe2997Leu)
c.8988C>A (p.Phe2996Leu)
c.2443C>A
n.9074C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38510556C=CA2335058814RYR1c.8991C= (p.Phe2997=)
c.8988C= (p.Phe2996=)
c.2443C=
n.9074C=
19g.38510556C>GCA405683474RYR1c.8991C>G (p.Phe2997Leu)
c.8988C>G (p.Phe2996Leu)
c.2443C>G
n.9074C>G
19g.38510556C>TCA507246189RYR1c.8991C>T (p.Phe2997=)
c.8988C>T (p.Phe2996=)
c.2443C>T
n.9074C>T
 COSMIC
19g.38510557T>ACA405683475RYR1c.8992T>A (p.Phe2998Ile)
c.8989T>A (p.Phe2997Ile)
c.2444T>A
n.9075T>A
19g.38510557T>CCA405683476RYR1c.8992T>C (p.Phe2998Leu)
c.8989T>C (p.Phe2997Leu)
c.2444T>C
n.9075T>C
19g.38510557T>GCA405683477RYR1c.8992T>G (p.Phe2998Val)
c.8989T>G (p.Phe2997Val)
c.2444T>G
n.9075T>G
19g.38510559delCA2584902810RYR1c.8994del (p.Phe2998LeufsTer8)
c.8991del (p.Phe2997LeufsTer8)
c.2446del
n.9077del
 gnomAD v4
19g.38510558T>ACA405683478RYR1c.8993T>A (p.Phe2998Tyr)
c.8990T>A (p.Phe2997Tyr)
c.2445T>A
n.9076T>A
19g.38510558T>CCA405683479RYR1c.8993T>C (p.Phe2998Ser)
c.8990T>C (p.Phe2997Ser)
c.2445T>C
n.9076T>C
19g.38510558T>GCA405683480RYR1c.8993T>G (p.Phe2998Cys)
c.8990T>G (p.Phe2997Cys)
c.2445T>G
n.9076T>G
19g.38510559T>ACA405683481RYR1c.8994T>A (p.Phe2998Leu)
c.8991T>A (p.Phe2997Leu)
c.2446T>A
n.9077T>A
19g.38510559T>CCA507246190RYR1c.8994T>C (p.Phe2998=)
c.8991T>C (p.Phe2997=)
c.2446T>C
n.9077T>C
 dbSNP
19g.38510559T>GCA405683483RYR1c.8994T>G (p.Phe2998Leu)
c.8991T>G (p.Phe2997Leu)
c.2446T>G
n.9077T>G
19g.38510559T=CA2335058815RYR1c.8994T= (p.Phe2998=)
c.8991T= (p.Phe2997=)
c.2446T=
n.9077T=
19g.38510560G>ACA405683488RYR1c.8995G>A (p.Ala2999Thr)
c.8992G>A (p.Ala2998Thr)
c.2447G>A
n.9078G>A
19g.38510560G>CCA405683484RYR1c.8995G>C (p.Ala2999Pro)
c.8992G>C (p.Ala2998Pro)
c.2447G>C
n.9078G>C
19g.38510560G>TCA405683486RYR1c.8995G>T (p.Ala2999Ser)
c.8992G>T (p.Ala2998Ser)
c.2447G>T
n.9078G>T
 COSMIC
19g.38510561C>ACA405683490RYR1c.8996C>A (p.Ala2999Asp)
c.8993C>A (p.Ala2998Asp)
c.2448C>A
n.9079C>A
19g.38510561C=CA2335058816RYR1c.8996C= (p.Ala2999=)
c.8993C= (p.Ala2998=)
c.2448C=
n.9079C=
19g.38510561C>GCA073022RYR1c.8996C>G (p.Ala2999Gly)
c.8993C>G (p.Ala2998Gly)
c.2448C>G
n.9079C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510561C>TCA405683493RYR1c.8996C>T (p.Ala2999Val)
c.8993C>T (p.Ala2998Val)
c.2448C>T
n.9079C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38510562C>ACA507246191RYR1c.8997C>A (p.Ala2999=)
c.8994C>A (p.Ala2998=)
c.2449C>A
n.9080C>A
19g.38510562C>GCA507246192RYR1c.8997C>G (p.Ala2999=)
c.8994C>G (p.Ala2998=)
c.2449C>G
n.9080C>G
19g.38510562C>TCA507246193RYR1c.8997C>T (p.Ala2999=)
c.8994C>T (p.Ala2998=)
c.2449C>T
n.9080C>T
19g.38510563A>CCA405683495RYR1c.8998A>C (p.Lys3000Gln)
c.8995A>C (p.Lys2999Gln)
c.2450A>C
n.9081A>C
19g.38510563A>GCA405683497RYR1c.8998A>G (p.Lys3000Glu)
c.8995A>G (p.Lys2999Glu)
c.2450A>G
n.9081A>G
19g.38510563A>TCA405683499RYR1c.8998A>T (p.Lys3000Ter)
c.8995A>T (p.Lys2999Ter)
c.2450A>T
n.9081A>T
19g.38510564A=CA2335058817RYR1c.8999A= (p.Lys3000=)
c.8996A= (p.Lys2999=)
c.2451A=
n.9082A=
19g.38510564A>CCA405683501RYR1c.8999A>C (p.Lys3000Thr)
c.8996A>C (p.Lys2999Thr)
c.2451A>C
n.9082A>C
19g.38510564A>GCA405683502RYR1c.8999A>G (p.Lys3000Arg)
c.8996A>G (p.Lys2999Arg)
c.2451A>G
n.9082A>G
19g.38510564A>TCA308123139RYR1c.8999A>T (p.Lys3000Met)
c.8996A>T (p.Lys2999Met)
c.2451A>T
n.9082A>T
 dbSNP gnomAD v4
19g.38510565G>ACA507246194RYR1c.9000G>A (p.Lys3000=)
c.8997G>A (p.Lys2999=)
c.2452G>A
n.9083G>A
 gnomAD v4
19g.38510565G>CCA405683504RYR1c.9000G>C (p.Lys3000Asn)
c.8997G>C (p.Lys2999Asn)
c.2452G>C
n.9083G>C
19g.38510565G>TCA405683506RYR1c.9000G>T (p.Lys3000Asn)
c.8997G>T (p.Lys2999Asn)
c.2452G>T
n.9083G>T
19g.38510566G>ACA308123148RYR1c.9000+1G>A (n.9000+1G>A)
c.8997+1G>A (n.8997+1G>A)
c.2452+1G>A
n.9083+1G>A
 ClinVar dbSNP
19g.38510566G>CCA405683508RYR1c.9000+1G>C (n.9000+1G>C)
c.8997+1G>C (n.8997+1G>C)
c.2452+1G>C
n.9083+1G>C
19g.38510566G=CA2335058818RYR1c.9000+1G= (n.9000+1G=)
c.8997+1G= (n.8997+1G=)
c.2452+1G=
n.9083+1G=
19g.38510566G>TCA024959RYR1c.9000+1G>T (n.9000+1G>T)
c.8997+1G>T (n.8997+1G>T)
c.2452+1G>T
n.9083+1G>T
 ClinVar dbSNP gnomAD v4
19g.38510567T>ACA405683511RYR1c.9000+2T>A (n.9000+2T>A)
c.8997+2T>A (n.8997+2T>A)
c.2452+2T>A
n.9083+2T>A
19g.38510567T>CCA405683515RYR1c.9000+2T>C (n.9000+2T>C)
c.8997+2T>C (n.8997+2T>C)
c.2452+2T>C
n.9083+2T>C
19g.38510567T>GCA405683513RYR1c.9000+2T>G (n.9000+2T>G)
c.8997+2T>G (n.8997+2T>G)
c.2452+2T>G
n.9083+2T>G
19g.38510568G>ACA2580097165RYR1c.9000+3G>A (n.9000+3G>A)
c.8997+3G>A (n.8997+3G>A)
c.2452+3G>A
n.9083+3G>A
 ClinVar
19g.38510571_38510572dupCA2584902811RYR1c.9000+6_9000+7dup (n.9000+6_9000+7dup)
c.8997+6_8997+7dup (n.8997+6_8997+7dup)
c.2452+6_2452+7dup
n.9083+6_9083+7dup
 gnomAD v4
19g.38510570G>TCA2584902812RYR1c.9000+5G>T (n.9000+5G>T)
c.8997+5G>T (n.8997+5G>T)
c.2452+5G>T
n.9083+5G>T
 gnomAD v4
19g.38510572G>ACA633066675RYR1c.9000+7G>A (n.9000+7G>A)
c.8997+7G>A (n.8997+7G>A)
c.2452+7G>A
n.9083+7G>A
 dbSNP gnomAD v2
19g.38510572G>CCA2335058820RYR1c.9000+7G>C (n.9000+7G>C)
c.8997+7G>C (n.8997+7G>C)
c.2452+7G>C
n.9083+7G>C
 dbSNP
19g.38510572G=CA2335058819RYR1c.9000+7G= (n.9000+7G=)
c.8997+7G= (n.8997+7G=)
c.2452+7G=
n.9083+7G=
19g.38510573G>ACA2584902813RYR1c.9000+8G>A (n.9000+8G>A)
c.8997+8G>A (n.8997+8G>A)
c.2452+8G>A
n.9083+8G>A
 gnomAD v4
19g.38510574T>ACA2576771355RYR1c.9000+9T>A (n.9000+9T>A)
c.8997+9T>A (n.8997+9T>A)
c.2452+9T>A
n.9083+9T>A
19g.38510575G>TCA2814347337RYR1c.9000+10G>T (n.9000+10G>T)
c.8997+10G>T (n.8997+10G>T)
c.2452+10G>T
n.9083+10G>T
19g.38510576G>ACA2335058822RYR1c.9000+11G>A (n.9000+11G>A)
c.8997+11G>A (n.8997+11G>A)
c.2452+11G>A
n.9083+11G>A
 dbSNP gnomAD v4
19g.38510576G>CCA073033RYR1c.9000+11G>C (n.9000+11G>C)
c.8997+11G>C (n.8997+11G>C)
c.2452+11G>C
n.9083+11G>C
 dbSNP ExAC
19g.38510576G=CA2335058821RYR1c.9000+11G= (n.9000+11G=)
c.8997+11G= (n.8997+11G=)
c.2452+11G=
n.9083+11G=
19g.38510577G>ACA2335058824RYR1c.9000+12G>A (n.9000+12G>A)
c.8997+12G>A (n.8997+12G>A)
c.2452+12G>A
n.9083+12G>A
 dbSNP
19g.38510577G=CA2335058823RYR1c.9000+12G= (n.9000+12G=)
c.8997+12G= (n.8997+12G=)
c.2452+12G=
n.9083+12G=
19g.38510578C=CA2335058825RYR1c.9000+13C= (n.9000+13C=)
c.8997+13C= (n.8997+13C=)
c.2452+13C=
n.9083+13C=
19g.38510578C>TCA882059666RYR1c.9000+13C>T (n.9000+13C>T)
c.8997+13C>T (n.8997+13C>T)
c.2452+13C>T
n.9083+13C>T
 dbSNP
19g.38510579_38510605dupCA2584902814RYR1c.9000+14_9000+40dup (n.9000+14_9000+40dup)
c.8997+14_8997+40dup (n.8997+14_8997+40dup)
c.2452+14_2452+40dup
n.9083+14_9083+40dup
 gnomAD v4
19g.38510579T>GCA633066676RYR1c.9000+14T>G (n.9000+14T>G)
c.8997+14T>G (n.8997+14T>G)
c.2452+14T>G
n.9083+14T>G
 dbSNP gnomAD v2 gnomAD v4
19g.38510579T=CA2335058826RYR1c.9000+14T= (n.9000+14T=)
c.8997+14T= (n.8997+14T=)
c.2452+14T=
n.9083+14T=
19g.38510584A>GCA2584902815RYR1c.9000+19A>G (n.9000+19A>G)
c.8997+19A>G (n.8997+19A>G)
c.2452+19A>G
n.9083+19A>G
 gnomAD v4
19g.38510585G>TCA657212567RYR1c.9000+20G>T (n.9000+20G>T)
c.8997+20G>T (n.8997+20G>T)
c.2452+20G>T
n.9083+20G>T
 gnomAD v4 COSMIC
19g.38510590_38510599delCA2584902816RYR1c.9000+25_9000+34del (n.9000+25_9000+34del)
c.8997+25_8997+34del (n.8997+25_8997+34del)
c.2452+25_2452+34del
n.9083+25_9083+34del
 ClinVar gnomAD v4
19g.38510586C>ACA633066677RYR1c.9000+21C>A (n.9000+21C>A)
c.8997+21C>A (n.8997+21C>A)
c.2452+21C>A
n.9083+21C>A
 dbSNP gnomAD v2 gnomAD v4
19g.38510586C=CA2335058827RYR1c.9000+21C= (n.9000+21C=)
c.8997+21C= (n.8997+21C=)
c.2452+21C=
n.9083+21C=
19g.38510587T>GCA2584902817RYR1c.9000+22T>G (n.9000+22T>G)
c.8997+22T>G (n.8997+22T>G)
c.2452+22T>G
n.9083+22T>G
 gnomAD v4
19g.38510588G>ACA2335058829RYR1c.9000+23G>A (n.9000+23G>A)
c.8997+23G>A (n.8997+23G>A)
c.2452+23G>A
n.9083+23G>A
 dbSNP
19g.38510588G=CA2335058828RYR1c.9000+23G= (n.9000+23G=)
c.8997+23G= (n.8997+23G=)
c.2452+23G=
n.9083+23G=
19g.38510590A=CA2335058830RYR1c.9000+25A= (n.9000+25A=)
c.8997+25A= (n.8997+25A=)
c.2452+25A=
n.9083+25A=
19g.38510590A>GCA2584902818RYR1c.9000+25A>G (n.9000+25A>G)
c.8997+25A>G (n.8997+25A>G)
c.2452+25A>G
n.9083+25A>G
 gnomAD v4
19g.38510590A>TCA308123168RYR1c.9000+25A>T (n.9000+25A>T)
c.8997+25A>T (n.8997+25A>T)
c.2452+25A>T
n.9083+25A>T
 dbSNP
19g.38510593G>ACA2576771357RYR1c.9000+28G>A (n.9000+28G>A)
c.8997+28G>A (n.8997+28G>A)
c.2452+28G>A
n.9083+28G>A
19g.38510593G>CCA2584902819RYR1c.9000+28G>C (n.9000+28G>C)
c.8997+28G>C (n.8997+28G>C)
c.2452+28G>C
n.9083+28G>C
 gnomAD v4
19g.38510594C=CA2335058831RYR1c.9000+29C= (n.9000+29C=)
c.8997+29C= (n.8997+29C=)
c.2452+29C=
n.9083+29C=
19g.38510594C>GCA2584902820RYR1c.9000+29C>G (n.9000+29C>G)
c.8997+29C>G (n.8997+29C>G)
c.2452+29C>G
n.9083+29C>G
 gnomAD v4
19g.38510594C>TCA073036RYR1c.9000+29C>T (n.9000+29C>T)
c.8997+29C>T (n.8997+29C>T)
c.2452+29C>T
n.9083+29C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38510595G>ACA073040RYR1c.9000+30G>A (n.9000+30G>A)
c.8997+30G>A (n.8997+30G>A)
c.2452+30G>A
n.9083+30G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510595G>CCA2584902821RYR1c.9000+30G>C (n.9000+30G>C)
c.8997+30G>C (n.8997+30G>C)
c.2452+30G>C
n.9083+30G>C
 gnomAD v4
19g.38510595G=CA2335058832RYR1c.9000+30G= (n.9000+30G=)
c.8997+30G= (n.8997+30G=)
c.2452+30G=
n.9083+30G=
19g.38510595G>TCA073043RYR1c.9000+30G>T (n.9000+30G>T)
c.8997+30G>T (n.8997+30G>T)
c.2452+30G>T
n.9083+30G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38510596C>TCA2584902822RYR1c.9000+31C>T (n.9000+31C>T)
c.8997+31C>T (n.8997+31C>T)
c.2452+31C>T
n.9083+31C>T
 gnomAD v4

Number of alleles fetched