Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
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
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>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
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
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
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

Number of alleles fetched