Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38499997G>ACA024750RYR1c.7304G>A (p.Arg2435His)
n.7304G>A (p.Arg2435His)
c.7301G>A (p.Arg2434His)
ClinVar dbSNP
19g.38499997G>CCA405669594RYR1c.7304G>C (p.Arg2435Pro)
n.7304G>C (p.Arg2435Pro)
c.7301G>C (p.Arg2434Pro)
19g.38499997G>TCA024753RYR1c.7304G>T (p.Arg2435Leu)
n.7304G>T (p.Arg2435Leu)
c.7301G>T (p.Arg2434Leu)
ClinVar dbSNP
19g.38499998C>ACA507353792RYR1c.7305C>A (p.Arg2435=)
n.7305C>A (p.Arg2435=)
c.7302C>A (p.Arg2434=)
19g.38499998C>GCA507353793RYR1c.7305C>G (p.Arg2435=)
n.7305C>G (p.Arg2435=)
c.7302C>G (p.Arg2434=)
19g.38499998C>TCA507353794RYR1c.7305C>T (p.Arg2435=)
n.7305C>T (p.Arg2435=)
c.7302C>T (p.Arg2434=)
19g.38499999T>ACA405669612RYR1c.7306T>A (p.Cys2436Ser)
n.7306T>A (p.Cys2436Ser)
c.7303T>A (p.Cys2435Ser)
19g.38499999T>CCA405669615RYR1c.7306T>C (p.Cys2436Arg)
n.7306T>C (p.Cys2436Arg)
c.7303T>C (p.Cys2435Arg)
19g.38499999T>GCA405669614RYR1c.7306T>G (p.Cys2436Gly)
n.7306T>G (p.Cys2436Gly)
c.7303T>G (p.Cys2435Gly)
19g.38499999_38500000delCA069470RYR1c.7306_7307del (p.Ala2437ThrfsTer12)
n.7306_7307del (p.Ala2437ThrfsTer12)
c.7303_7304del (p.Ala2436ThrfsTer12)
dbSNP ExAC gnomAD
19g.38500000G>ACA405669616RYR1c.7307G>A (p.Cys2436Tyr)
n.7307G>A (p.Cys2436Tyr)
c.7304G>A (p.Cys2435Tyr)
19g.38500000G>CCA405669618RYR1c.7307G>C (p.Cys2436Ser)
n.7307G>C (p.Cys2436Ser)
c.7304G>C (p.Cys2435Ser)
19g.38500000G>TCA405669620RYR1c.7307G>T (p.Cys2436Phe)
n.7307G>T (p.Cys2436Phe)
c.7304G>T (p.Cys2435Phe)
19g.38500001T>ACA405669622RYR1c.7308T>A (p.Cys2436Ter)
n.7308T>A (p.Cys2436Ter)
c.7305T>A (p.Cys2435Ter)
19g.38500001T>CCA069474RYR1c.7308T>C (p.Cys2436=)
n.7308T>C (p.Cys2436=)
c.7305T>C (p.Cys2435=)
dbSNP ExAC gnomAD
19g.38500001T>GCA405669624RYR1c.7308T>G (p.Cys2436Trp)
n.7308T>G (p.Cys2436Trp)
c.7305T>G (p.Cys2435Trp)
19g.38500002G>ACA405669626RYR1c.7309G>A (p.Ala2437Thr)
n.7309G>A (p.Ala2437Thr)
c.7306G>A (p.Ala2436Thr)
19g.38500002G>CCA405669628RYR1c.7309G>C (p.Ala2437Pro)
n.7309G>C (p.Ala2437Pro)
c.7306G>C (p.Ala2436Pro)
19g.38500002G>TCA405669635RYR1c.7309G>T (p.Ala2437Ser)
n.7309G>T (p.Ala2437Ser)
c.7306G>T (p.Ala2436Ser)
19g.38500003C>ACA405669640RYR1c.7310C>A (p.Ala2437Glu)
n.7310C>A (p.Ala2437Glu)
c.7307C>A (p.Ala2436Glu)
19g.38500003C>GCA405669638RYR1c.7310C>G (p.Ala2437Gly)
n.7310C>G (p.Ala2437Gly)
c.7307C>G (p.Ala2436Gly)
19g.38500003C>TCA024756RYR1c.7310C>T (p.Ala2437Val)
n.7310C>T (p.Ala2437Val)
c.7307C>T (p.Ala2436Val)
ClinVar dbSNP
19g.38500004A>CCA308109874RYR1c.7311A>C (p.Ala2437=)
n.7311A>C (p.Ala2437=)
c.7308A>C (p.Ala2436=)
dbSNP
19g.38500004A>GCA507353803RYR1c.7311A>G (p.Ala2437=)
n.7311A>G (p.Ala2437=)
c.7308A>G (p.Ala2436=)
19g.38500004A>TCA507353804RYR1c.7311A>T (p.Ala2437=)
n.7311A>T (p.Ala2437=)
c.7308A>T (p.Ala2436=)
19g.38500005C>ACA405669642RYR1c.7312C>A (p.Pro2438Thr)
n.7312C>A (p.Pro2438Thr)
c.7309C>A (p.Pro2437Thr)
19g.38500005C>GCA405669645RYR1c.7312C>G (p.Pro2438Ala)
n.7312C>G (p.Pro2438Ala)
c.7309C>G (p.Pro2437Ala)
19g.38500005C>TCA405669643RYR1c.7312C>T (p.Pro2438Ser)
n.7312C>T (p.Pro2438Ser)
c.7309C>T (p.Pro2437Ser)
19g.38500006C>ACA405669650RYR1c.7313C>A (p.Pro2438Gln)
n.7313C>A (p.Pro2438Gln)
c.7310C>A (p.Pro2437Gln)
19g.38500006C>GCA405669651RYR1c.7313C>G (p.Pro2438Arg)
n.7313C>G (p.Pro2438Arg)
c.7310C>G (p.Pro2437Arg)
19g.38500006C>TCA405669657RYR1c.7313C>T (p.Pro2438Leu)
n.7313C>T (p.Pro2438Leu)
c.7310C>T (p.Pro2437Leu)
19g.38500007A>CCA507353806RYR1c.7314A>C (p.Pro2438=)
n.7314A>C (p.Pro2438=)
c.7311A>C (p.Pro2437=)
19g.38500007A>GCA507353807RYR1c.7314A>G (p.Pro2438=)
n.7314A>G (p.Pro2438=)
c.7311A>G (p.Pro2437=)
19g.38500007A>TCA507353808RYR1c.7314A>T (p.Pro2438=)
n.7314A>T (p.Pro2438=)
c.7311A>T (p.Pro2437=)
19g.38500008G>ACA405669658RYR1c.7315G>A (p.Glu2439Lys)
n.7315G>A (p.Glu2439Lys)
c.7312G>A (p.Glu2438Lys)
ClinVar
19g.38500008G>CCA405669659RYR1c.7315G>C (p.Glu2439Gln)
n.7315G>C (p.Glu2439Gln)
c.7312G>C (p.Glu2438Gln)
19g.38500008G>TCA405669660RYR1c.7315G>T (p.Glu2439Ter)
n.7315G>T (p.Glu2439Ter)
c.7312G>T (p.Glu2438Ter)
19g.38500009A>CCA405669666RYR1c.7316A>C (p.Glu2439Ala)
n.7316A>C (p.Glu2439Ala)
c.7313A>C (p.Glu2438Ala)
19g.38500009A>GCA405669662RYR1c.7316A>G (p.Glu2439Gly)
n.7316A>G (p.Glu2439Gly)
c.7313A>G (p.Glu2438Gly)
19g.38500009A>TCA405669664RYR1c.7316A>T (p.Glu2439Val)
n.7316A>T (p.Glu2439Val)
c.7313A>T (p.Glu2438Val)
19g.38500010G>ACA507353812RYR1c.7317G>A (p.Glu2439=)
n.7317G>A (p.Glu2439=)
c.7314G>A (p.Glu2438=)
19g.38500010G>CCA024758RYR1c.7317G>C (p.Glu2439Asp)
n.7317G>C (p.Glu2439Asp)
c.7314G>C (p.Glu2438Asp)
ClinVar dbSNP
19g.38500010G>TCA405669669RYR1c.7317G>T (p.Glu2439Asp)
n.7317G>T (p.Glu2439Asp)
c.7314G>T (p.Glu2438Asp)
19g.38500011A>CCA405669670RYR1c.7318A>C (p.Met2440Leu)
n.7318A>C (p.Met2440Leu)
c.7315A>C (p.Met2439Leu)
19g.38500011A>GCA405669671RYR1c.7318A>G (p.Met2440Val)
n.7318A>G (p.Met2440Val)
c.7315A>G (p.Met2439Val)
19g.38500011A>TCA405669672RYR1c.7318A>T (p.Met2440Leu)
n.7318A>T (p.Met2440Leu)
c.7315A>T (p.Met2439Leu)
19g.38500012T>ACA405669675RYR1c.7319T>A (p.Met2440Lys)
n.7319T>A (p.Met2440Lys)
c.7316T>A (p.Met2439Lys)
19g.38500012T>CCA405669677RYR1c.7319T>C (p.Met2440Thr)
n.7319T>C (p.Met2440Thr)
c.7316T>C (p.Met2439Thr)
19g.38500012T>GCA405669676RYR1c.7319T>G (p.Met2440Arg)
n.7319T>G (p.Met2440Arg)
c.7316T>G (p.Met2439Arg)
19g.38500013G>ACA405669679RYR1c.7320G>A (p.Met2440Ile)
n.7320G>A (p.Met2440Ile)
c.7317G>A (p.Met2439Ile)

Number of alleles fetched