Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38499620delCA2335052830RYR1c.7028-15del (n.7028-15del)
c.7025-15del (n.7025-15del)
c.480-15del
n.7111-15del
 dbSNP gnomAD v4
19g.38499618C=CA2335052831RYR1c.7028-17C= (n.7028-17C=)
c.7025-17C= (n.7025-17C=)
c.480-17C=
n.7111-17C=
19g.38499618C>TCA069029RYR1c.7028-17C>T (n.7028-17C>T)
c.7025-17C>T (n.7025-17C>T)
c.480-17C>T
n.7111-17C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499619C>TCA2576771073RYR1c.7028-16C>T (n.7028-16C>T)
c.7025-16C>T (n.7025-16C>T)
c.480-16C>T
n.7111-16C>T
 gnomAD v4
19g.38499620C>ACA2584900024RYR1c.7028-15C>A (n.7028-15C>A)
c.7025-15C>A (n.7025-15C>A)
c.480-15C>A
n.7111-15C>A
 gnomAD v4
19g.38499620C=CA2335052832RYR1c.7028-15C= (n.7028-15C=)
c.7025-15C= (n.7025-15C=)
c.480-15C=
n.7111-15C=
19g.38499620C>GCA308107728RYR1c.7028-15C>G (n.7028-15C>G)
c.7025-15C>G (n.7025-15C>G)
c.480-15C>G
n.7111-15C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38499620C>TCA2576771074RYR1c.7028-15C>T (n.7028-15C>T)
c.7025-15C>T (n.7025-15C>T)
c.480-15C>T
n.7111-15C>T
 gnomAD v4
19g.38499621A>CCA2584900025RYR1c.7028-14A>C (n.7028-14A>C)
c.7025-14A>C (n.7025-14A>C)
c.480-14A>C
n.7111-14A>C
 gnomAD v4
19g.38499621A>TCA2584900026RYR1c.7028-14A>T (n.7028-14A>T)
c.7025-14A>T (n.7025-14A>T)
c.480-14A>T
n.7111-14A>T
 gnomAD v4
19g.38499622T>ACA882060725RYR1c.7028-13T>A (n.7028-13T>A)
c.7025-13T>A (n.7025-13T>A)
c.480-13T>A
n.7111-13T>A
 dbSNP gnomAD v3 gnomAD v4
19g.38499622T>CCA069025RYR1c.7028-13T>C (n.7028-13T>C)
c.7025-13T>C (n.7025-13T>C)
c.480-13T>C
n.7111-13T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499622T>GCA2584900027RYR1c.7028-13T>G (n.7028-13T>G)
c.7025-13T>G (n.7025-13T>G)
c.480-13T>G
n.7111-13T>G
 gnomAD v4
19g.38499622T=CA2335052833RYR1c.7028-13T= (n.7028-13T=)
c.7025-13T= (n.7025-13T=)
c.480-13T=
n.7111-13T=
19g.38499623G>ACA2584900028RYR1c.7028-12G>A (n.7028-12G>A)
c.7025-12G>A (n.7025-12G>A)
c.480-12G>A
n.7111-12G>A
 gnomAD v4
19g.38499623G>CCA2739276774RYR1c.7028-12G>C (n.7028-12G>C)
c.7025-12G>C (n.7025-12G>C)
c.480-12G>C
n.7111-12G>C
 ClinVar
19g.38499623G>TCA2584900029RYR1c.7028-12G>T (n.7028-12G>T)
c.7025-12G>T (n.7025-12G>T)
c.480-12G>T
n.7111-12G>T
 gnomAD v4
19g.38499624C>ACA069015RYR1c.7028-11C>A (n.7028-11C>A)
c.7025-11C>A (n.7025-11C>A)
c.480-11C>A
n.7111-11C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499624C=CA2335052834RYR1c.7028-11C= (n.7028-11C=)
c.7025-11C= (n.7025-11C=)
c.480-11C=
n.7111-11C=
19g.38499624C>GCA069019RYR1c.7028-11C>G (n.7028-11C>G)
c.7025-11C>G (n.7025-11C>G)
c.480-11C>G
n.7111-11C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499624C>TCA069021RYR1c.7028-11C>T (n.7028-11C>T)
c.7025-11C>T (n.7025-11C>T)
c.480-11C>T
n.7111-11C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499625G>ACA308107735RYR1c.7028-10G>A (n.7028-10G>A)
c.7025-10G>A (n.7025-10G>A)
c.480-10G>A
n.7111-10G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499625G=CA2335052835RYR1c.7028-10G= (n.7028-10G=)
c.7025-10G= (n.7025-10G=)
c.480-10G=
n.7111-10G=
19g.38499625G>TCA2584900031RYR1c.7028-10G>T (n.7028-10G>T)
c.7025-10G>T (n.7025-10G>T)
c.480-10G>T
n.7111-10G>T
 gnomAD v4
19g.38499627delCA2584900030RYR1c.7028-8del (n.7028-8del)
c.7025-8del (n.7025-8del)
c.480-8del
n.7111-8del
 gnomAD v4
19g.38499626G>ACA2576771075RYR1c.7028-9G>A (n.7028-9G>A)
c.7025-9G>A (n.7025-9G>A)
c.480-9G>A
n.7111-9G>A
19g.38499627G>ACA082297RYR1c.7028-8G>A (n.7028-8G>A)
c.7025-8G>A (n.7025-8G>A)
c.480-8G>A
n.7111-8G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499627G=CA2335052836RYR1c.7028-8G= (n.7028-8G=)
c.7025-8G= (n.7025-8G=)
c.480-8G=
n.7111-8G=
19g.38499627G>TCA2584900032RYR1c.7028-8G>T (n.7028-8G>T)
c.7025-8G>T (n.7025-8G>T)
c.480-8G>T
n.7111-8G>T
 gnomAD v4
19g.38499628T>CCA2584900033RYR1c.7028-7T>C (n.7028-7T>C)
c.7025-7T>C (n.7025-7T>C)
c.480-7T>C
n.7111-7T>C
 gnomAD v4
19g.38499628T>GCA308107739RYR1c.7028-7T>G (n.7028-7T>G)
c.7025-7T>G (n.7025-7T>G)
c.480-7T>G
n.7111-7T>G
 dbSNP gnomAD v4
19g.38499628T=CA2335052837RYR1c.7028-7T= (n.7028-7T=)
c.7025-7T= (n.7025-7T=)
c.480-7T=
n.7111-7T=
19g.38499629G>TCA2576771076RYR1c.7028-6G>T (n.7028-6G>T)
c.7025-6G>T (n.7025-6G>T)
c.480-6G>T
n.7111-6G>T
 gnomAD v4
19g.38499630dupCA2584900034RYR1c.7028-5dup (n.7028-5dup)
c.7025-5dup (n.7025-5dup)
c.480-5dup
n.7111-5dup
 gnomAD v4
19g.38499630G>ACA082305RYR1c.7028-5G>A (n.7028-5G>A)
c.7025-5G>A (n.7025-5G>A)
c.480-5G>A
n.7111-5G>A
 ClinVar gnomAD v4
19g.38499631C>ACA2584900035RYR1c.7028-4C>A (n.7028-4C>A)
c.7025-4C>A (n.7025-4C>A)
c.480-4C>A
n.7111-4C>A
 gnomAD v4
19g.38499631C=CA2335052838RYR1c.7028-4C= (n.7028-4C=)
c.7025-4C= (n.7025-4C=)
c.480-4C=
n.7111-4C=
19g.38499631C>TCA632874637RYR1c.7028-4C>T (n.7028-4C>T)
c.7025-4C>T (n.7025-4C>T)
c.480-4C>T
n.7111-4C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38499632C=CA2335052839RYR1c.7028-3C= (n.7028-3C=)
c.7025-3C= (n.7025-3C=)
c.480-3C=
n.7111-3C=
19g.38499632C>GCA2814346128RYR1c.7028-3C>G (n.7028-3C>G)
c.7025-3C>G (n.7025-3C>G)
c.480-3C>G
n.7111-3C>G
19g.38499632C>TCA632874638RYR1c.7028-3C>T (n.7028-3C>T)
c.7025-3C>T (n.7025-3C>T)
c.480-3C>T
n.7111-3C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38499633A>CCA405667762RYR1c.7028-2A>C (n.7028-2A>C)
c.7025-2A>C (n.7025-2A>C)
c.480-2A>C
n.7111-2A>C
19g.38499633A>GCA405667763RYR1c.7028-2A>G (n.7028-2A>G)
c.7025-2A>G (n.7025-2A>G)
c.480-2A>G
n.7111-2A>G
19g.38499633A>TCA405667764RYR1c.7028-2A>T (n.7028-2A>T)
c.7025-2A>T (n.7025-2A>T)
c.480-2A>T
n.7111-2A>T
19g.38499634G>ACA405667765RYR1c.7028-1G>A (n.7028-1G>A)
c.7025-1G>A (n.7025-1G>A)
c.480-1G>A
n.7111-1G>A
19g.38499634G>CCA405667766RYR1c.7028-1G>C (n.7028-1G>C)
c.7025-1G>C (n.7025-1G>C)
c.480-1G>C
n.7111-1G>C
19g.38499634G>TCA405667767RYR1c.7028-1G>T (n.7028-1G>T)
c.7025-1G>T (n.7025-1G>T)
c.480-1G>T
n.7111-1G>T
 gnomAD v4
19g.38499635G>ACA405667768RYR1c.7028G>A (p.Gly2343Asp)
c.7025G>A (p.Gly2342Asp)
c.480G>A
n.7111G>A
19g.38499635G>CCA405667769RYR1c.7028G>C (p.Gly2343Ala)
c.7025G>C (p.Gly2342Ala)
c.480G>C
n.7111G>C
19g.38499635G>TCA405667770RYR1c.7028G>T (p.Gly2343Val)
c.7025G>T (p.Gly2342Val)
c.480G>T
n.7111G>T
 gnomAD v4
19g.38499636C>ACA507353763RYR1c.7029C>A (p.Gly2343=)
c.7026C>A (p.Gly2342=)
c.481C>A
n.7112C>A
 ClinVar dbSNP gnomAD v4
19g.38499636C=CA2335052840RYR1c.7029C= (p.Gly2343=)
c.7026C= (p.Gly2342=)
c.481C=
n.7112C=
19g.38499636C>GCA507353764RYR1c.7029C>G (p.Gly2343=)
c.7026C>G (p.Gly2342=)
c.481C>G
n.7112C>G
19g.38499636C>TCA069044RYR1c.7029C>T (p.Gly2343=)
c.7026C>T (p.Gly2342=)
c.481C>T
n.7112C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38499637G>ACA082296RYR1c.7030G>A (p.Glu2344Lys)
c.7027G>A (p.Glu2343Lys)
c.482G>A
n.7113G>A
 ClinVar dbSNP gnomAD v4
19g.38499637G>CCA405667772RYR1c.7030G>C (p.Glu2344Gln)
c.7027G>C (p.Glu2343Gln)
c.482G>C
n.7113G>C
19g.38499637G=CA2335052841RYR1c.7030G= (p.Glu2344=)
c.7027G= (p.Glu2343=)
c.482G=
n.7113G=
19g.38499637G>TCA405667771RYR1c.7030G>T (p.Glu2344Ter)
c.7027G>T (p.Glu2343Ter)
c.482G>T
n.7113G>T
 gnomAD v4
19g.38499637_38499639dupCA2814346132RYR1c.7030_7032dup (p.Glu2344_Ser2345insGlu)
c.7027_7029dup (p.Glu2343_Ser2344insGlu)
c.482_484dup
n.7113_7115dup
19g.38499638A>CCA405667773RYR1c.7031A>C (p.Glu2344Ala)
c.7028A>C (p.Glu2343Ala)
c.483A>C
n.7114A>C
19g.38499638A>GCA405667774RYR1c.7031A>G (p.Glu2344Gly)
c.7028A>G (p.Glu2343Gly)
c.483A>G
n.7114A>G
19g.38499638A>TCA405667775RYR1c.7031A>T (p.Glu2344Val)
c.7028A>T (p.Glu2343Val)
c.483A>T
n.7114A>T
19g.38499639G>ACA507353771RYR1c.7032G>A (p.Glu2344=)
c.7029G>A (p.Glu2343=)
c.484G>A
n.7115G>A
19g.38499639G>CCA024673RYR1c.7032G>C (p.Glu2344Asp)
c.7029G>C (p.Glu2343Asp)
c.484G>C
n.7115G>C
 ClinVar dbSNP
19g.38499639G=CA2335052842RYR1c.7032G= (p.Glu2344=)
c.7029G= (p.Glu2343=)
c.484G=
n.7115G=
19g.38499639G>TCA405667776RYR1c.7032G>T (p.Glu2344Asp)
c.7029G>T (p.Glu2343Asp)
c.484G>T
n.7115G>T
 gnomAD v4
19g.38499640A=CA2335052843RYR1c.7033A= (p.Ser2345=)
c.7030A= (p.Ser2344=)
c.485A=
n.7116A=
19g.38499640A>CCA405667777RYR1c.7033A>C (p.Ser2345Arg)
c.7030A>C (p.Ser2344Arg)
c.485A>C
n.7116A>C
 COSMIC
19g.38499640A>GCA405667778RYR1c.7033A>G (p.Ser2345Gly)
c.7030A>G (p.Ser2344Gly)
c.485A>G
n.7116A>G
 gnomAD v4
19g.38499640A>TCA069047RYR1c.7033A>T (p.Ser2345Cys)
c.7030A>T (p.Ser2344Cys)
c.485A>T
n.7116A>T
 dbSNP ExAC gnomAD v4
19g.38499641G>ACA069051RYR1c.7034G>A (p.Ser2345Asn)
c.7031G>A (p.Ser2344Asn)
c.486G>A
n.7117G>A
 dbSNP ExAC gnomAD v3 gnomAD v4
19g.38499641G>CCA405667779RYR1c.7034G>C (p.Ser2345Thr)
c.7031G>C (p.Ser2344Thr)
c.486G>C
n.7117G>C
 ClinVar
19g.38499641G=CA2335052844RYR1c.7034G= (p.Ser2345=)
c.7031G= (p.Ser2344=)
c.486G=
n.7117G=
19g.38499641G>TCA405667780RYR1c.7034G>T (p.Ser2345Ile)
c.7031G>T (p.Ser2344Ile)
c.486G>T
n.7117G>T
19g.38499642C>ACA405667782RYR1c.7035C>A (p.Ser2345Arg)
c.7032C>A (p.Ser2344Arg)
c.487C>A
n.7118C>A
 ClinVar dbSNP gnomAD v4
19g.38499642C=CA2335052845RYR1c.7035C= (p.Ser2345=)
c.7032C= (p.Ser2344=)
c.487C=
n.7118C=
19g.38499642C>GCA405667781RYR1c.7035C>G (p.Ser2345Arg)
c.7032C>G (p.Ser2344Arg)
c.487C>G
n.7118C>G
 ClinVar dbSNP
19g.38499642C>TCA507353778RYR1c.7035C>T (p.Ser2345=)
c.7032C>T (p.Ser2344=)
c.487C>T
n.7118C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38499643G>ACA024676RYR1c.7036G>A (p.Val2346Met)
c.7033G>A (p.Val2345Met)
c.488G>A
n.7119G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38499643G>CCA405667783RYR1c.7036G>C (p.Val2346Leu)
c.7033G>C (p.Val2345Leu)
c.488G>C
n.7119G>C
19g.38499643G=CA2335052846RYR1c.7036G= (p.Val2346=)
c.7033G= (p.Val2345=)
c.488G=
n.7119G=
19g.38499643G>TCA405667784RYR1c.7036G>T (p.Val2346Leu)
c.7033G>T (p.Val2345Leu)
c.488G>T
n.7119G>T
19g.38499644T>ACA405667785RYR1c.7037T>A (p.Val2346Glu)
c.7034T>A (p.Val2345Glu)
c.489T>A
n.7120T>A
19g.38499644T>CCA405667786RYR1c.7037T>C (p.Val2346Ala)
c.7034T>C (p.Val2345Ala)
c.489T>C
n.7120T>C
19g.38499644T>GCA405667787RYR1c.7037T>G (p.Val2346Gly)
c.7034T>G (p.Val2345Gly)
c.489T>G
n.7120T>G
19g.38499644_38499647delinsTGGACA2335052847RYR1c.7037_7040delinsTGGA (p.Val2346=)
c.7034_7037delinsTGGA (p.Val2345=)
c.489_492delinsTGGA
n.7120_7123delinsTGGA
19g.38499645G>ACA082294RYR1c.7038G>A (p.Val2346=)
c.7035G>A (p.Val2345=)
c.490G>A
n.7121G>A
 gnomAD v4
19g.38499645G>CCA507353787RYR1c.7038G>C (p.Val2346=)
c.7035G>C (p.Val2345=)
c.490G>C
n.7121G>C
19g.38499645G>TCA507353788RYR1c.7038G>T (p.Val2346=)
c.7035G>T (p.Val2345=)
c.490G>T
n.7121G>T
 gnomAD v4
19g.38499649_38499651delCA024679RYR1c.7042_7044del (p.Glu2348del)
c.7039_7041del (p.Glu2347del)
c.494_496del
n.7125_7127del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499646G>ACA069061RYR1c.7039G>A (p.Glu2347Lys)
c.7036G>A (p.Glu2346Lys)
c.491G>A
n.7122G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499646G>CCA405667788RYR1c.7039G>C (p.Glu2347Gln)
c.7036G>C (p.Glu2346Gln)
c.491G>C
n.7122G>C
19g.38499646G=CA2335052848RYR1c.7039G= (p.Glu2347=)
c.7036G= (p.Glu2346=)
c.491G=
n.7122G=
19g.38499646G>TCA082295RYR1c.7039G>T (p.Glu2347Ter)
c.7036G>T (p.Glu2346Ter)
c.491G>T
n.7122G>T
 gnomAD v4
19g.38499647A=CA2335052849RYR1c.7040A= (p.Glu2347=)
c.7037A= (p.Glu2346=)
c.492A=
n.7123A=
19g.38499647A>CCA069066RYR1c.7040A>C (p.Glu2347Ala)
c.7037A>C (p.Glu2346Ala)
c.492A>C
n.7123A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499647A>GCA405667789RYR1c.7040A>G (p.Glu2347Gly)
c.7037A>G (p.Glu2346Gly)
c.492A>G
n.7123A>G
19g.38499647A>TCA405667790RYR1c.7040A>T (p.Glu2347Val)
c.7037A>T (p.Glu2346Val)
c.492A>T
n.7123A>T
19g.38499648G>ACA507353795RYR1c.7041G>A (p.Glu2347=)
c.7038G>A (p.Glu2346=)
c.493G>A
n.7124G>A
19g.38499648G>CCA405667791RYR1c.7041G>C (p.Glu2347Asp)
c.7038G>C (p.Glu2346Asp)
c.493G>C
n.7124G>C
19g.38499648G>TCA405667792RYR1c.7041G>T (p.Glu2347Asp)
c.7038G>T (p.Glu2346Asp)
c.493G>T
n.7124G>T
 gnomAD v4
19g.38499649G>ACA082310RYR1c.7042G>A (p.Glu2348Lys)
c.7039G>A (p.Glu2347Lys)
c.494G>A
n.7125G>A
 ClinVar dbSNP gnomAD v4 COSMIC
19g.38499649G>CCA405667794RYR1c.7042G>C (p.Glu2348Gln)
c.7039G>C (p.Glu2347Gln)
c.494G>C
n.7125G>C
19g.38499649G=CA2335052850RYR1c.7042G= (p.Glu2348=)
c.7039G= (p.Glu2347=)
c.494G=
n.7125G=
19g.38499649G>TCA405667793RYR1c.7042G>T (p.Glu2348Ter)
c.7039G>T (p.Glu2347Ter)
c.494G>T
n.7125G>T
 gnomAD v4
19g.38499650A=CA2335052851RYR1c.7043A= (p.Glu2348=)
c.7040A= (p.Glu2347=)
c.495A=
n.7126A=
19g.38499650A>CCA082311RYR1c.7043A>C (p.Glu2348Ala)
c.7040A>C (p.Glu2347Ala)
c.495A>C
n.7126A>C
19g.38499650A>GCA024686RYR1c.7043A>G (p.Glu2348Gly)
c.7040A>G (p.Glu2347Gly)
c.495A>G
n.7126A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499650A>TCA405667795RYR1c.7043A>T (p.Glu2348Val)
c.7040A>T (p.Glu2347Val)
c.495A>T
n.7126A>T
19g.38499651G>ACA507353799RYR1c.7044G>A (p.Glu2348=)
c.7041G>A (p.Glu2347=)
c.496G>A
n.7127G>A
 gnomAD v4
19g.38499651G>CCA405667796RYR1c.7044G>C (p.Glu2348Asp)
c.7041G>C (p.Glu2347Asp)
c.496G>C
n.7127G>C
19g.38499651G=CA2335052852RYR1c.7044G= (p.Glu2348=)
c.7041G= (p.Glu2347=)
c.496G=
n.7127G=
19g.38499651G>TCA405667797RYR1c.7044G>T (p.Glu2348Asp)
c.7041G>T (p.Glu2347Asp)
c.496G>T
n.7127G>T
 dbSNP gnomAD v4
19g.38499652A=CA2335052853RYR1c.7045A= (p.Asn2349=)
c.7042A= (p.Asn2348=)
c.497A=
n.7128A=
19g.38499652A>CCA405667799RYR1c.7045A>C (p.Asn2349His)
c.7042A>C (p.Asn2348His)
c.497A>C
n.7128A>C
 dbSNP
19g.38499652A>GCA405667801RYR1c.7045A>G (p.Asn2349Asp)
c.7042A>G (p.Asn2348Asp)
c.497A>G
n.7128A>G
 COSMIC
19g.38499652A>TCA069069RYR1c.7045A>T (p.Asn2349Tyr)
c.7042A>T (p.Asn2348Tyr)
c.497A>T
n.7128A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499653A>CCA405667805RYR1c.7046A>C (p.Asn2349Thr)
c.7043A>C (p.Asn2348Thr)
c.498A>C
n.7129A>C
19g.38499653A>GCA405667807RYR1c.7046A>G (p.Asn2349Ser)
c.7043A>G (p.Asn2348Ser)
c.498A>G
n.7129A>G
19g.38499653A>TCA405667809RYR1c.7046A>T (p.Asn2349Ile)
c.7043A>T (p.Asn2348Ile)
c.498A>T
n.7129A>T
19g.38499654C>ACA405667813RYR1c.7047C>A (p.Asn2349Lys)
c.7044C>A (p.Asn2348Lys)
c.499C>A
n.7130C>A
19g.38499654C=CA2335052854RYR1c.7047C= (p.Asn2349=)
c.7044C= (p.Asn2348=)
c.499C=
n.7130C=
19g.38499654C>GCA405667815RYR1c.7047C>G (p.Asn2349Lys)
c.7044C>G (p.Asn2348Lys)
c.499C>G
n.7130C>G
19g.38499654C>TCA069073RYR1c.7047C>T (p.Asn2349=)
c.7044C>T (p.Asn2348=)
c.499C>T
n.7130C>T
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
19g.38499655G>ACA024690RYR1c.7048G>A (p.Ala2350Thr)
c.7045G>A (p.Ala2349Thr)
c.500G>A
n.7131G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38499655G>CCA405667817RYR1c.7048G>C (p.Ala2350Pro)
c.7045G>C (p.Ala2349Pro)
c.500G>C
n.7131G>C
19g.38499655G=CA2335052855RYR1c.7048G= (p.Ala2350=)
c.7045G= (p.Ala2349=)
c.500G=
n.7131G=
19g.38499655G>TCA405667818RYR1c.7048G>T (p.Ala2350Ser)
c.7045G>T (p.Ala2349Ser)
c.500G>T
n.7131G>T
 gnomAD v4
19g.38499656C>ACA405667822RYR1c.7049C>A (p.Ala2350Asp)
c.7046C>A (p.Ala2349Asp)
c.501C>A
n.7132C>A
19g.38499656C>GCA405667825RYR1c.7049C>G (p.Ala2350Gly)
c.7046C>G (p.Ala2349Gly)
c.501C>G
n.7132C>G
 COSMIC
19g.38499656C>TCA405667826RYR1c.7049C>T (p.Ala2350Val)
c.7046C>T (p.Ala2349Val)
c.501C>T
n.7132C>T
 gnomAD v4
19g.38499657C>ACA507353813RYR1c.7050C>A (p.Ala2350=)
c.7047C>A (p.Ala2349=)
c.502C>A
n.7133C>A
19g.38499657C>GCA507353814RYR1c.7050C>G (p.Ala2350=)
c.7047C>G (p.Ala2349=)
c.502C>G
n.7133C>G
19g.38499657C>TCA082313RYR1c.7050C>T (p.Ala2350=)
c.7047C>T (p.Ala2349=)
c.502C>T
n.7133C>T
 gnomAD v4
19g.38499658A=CA2335052856RYR1c.7051A= (p.Asn2351=)
c.7048A= (p.Asn2350=)
c.503A=
n.7134A=
19g.38499658A>CCA069074RYR1c.7051A>C (p.Asn2351His)
c.7048A>C (p.Asn2350His)
c.503A>C
n.7134A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499658A>GCA405667830RYR1c.7051A>G (p.Asn2351Asp)
c.7048A>G (p.Asn2350Asp)
c.503A>G
n.7134A>G
 dbSNP gnomAD v4
19g.38499658A>TCA405667829RYR1c.7051A>T (p.Asn2351Tyr)
c.7048A>T (p.Asn2350Tyr)
c.503A>T
n.7134A>T
19g.38499659A=CA2335052857RYR1c.7052A= (p.Asn2351=)
c.7049A= (p.Asn2350=)
c.504A=
n.7135A=
19g.38499659A>CCA405667831RYR1c.7052A>C (p.Asn2351Thr)
c.7049A>C (p.Asn2350Thr)
c.504A>C
n.7135A>C
19g.38499659A>GCA069078RYR1c.7052A>G (p.Asn2351Ser)
c.7049A>G (p.Asn2350Ser)
c.504A>G
n.7135A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499659A>TCA405667832RYR1c.7052A>T (p.Asn2351Ile)
c.7049A>T (p.Asn2350Ile)
c.504A>T
n.7135A>T
19g.38499660T>ACA405667833RYR1c.7053T>A (p.Asn2351Lys)
c.7050T>A (p.Asn2350Lys)
c.505T>A
n.7136T>A
19g.38499660T>CCA069079RYR1c.7053T>C (p.Asn2351=)
c.7050T>C (p.Asn2350=)
c.505T>C
n.7136T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499660T>GCA405667836RYR1c.7053T>G (p.Asn2351Lys)
c.7050T>G (p.Asn2350Lys)
c.505T>G
n.7136T>G
19g.38499660T=CA2335052858RYR1c.7053T= (p.Asn2351=)
c.7050T= (p.Asn2350=)
c.505T=
n.7136T=
19g.38499661G>ACA405667843RYR1c.7054G>A (p.Val2352Met)
c.7051G>A (p.Val2351Met)
c.506G>A
n.7137G>A
 gnomAD v4
19g.38499661G>CCA405667839RYR1c.7054G>C (p.Val2352Leu)
c.7051G>C (p.Val2351Leu)
c.506G>C
n.7137G>C
19g.38499661G=CA2335052859RYR1c.7054G= (p.Val2352=)
c.7051G= (p.Val2351=)
c.506G=
n.7137G=
19g.38499661G>TCA405667841RYR1c.7054G>T (p.Val2352Leu)
c.7051G>T (p.Val2351Leu)
c.506G>T
n.7137G>T
 ClinVar dbSNP gnomAD v4
19g.38499667_38499669delCA2695228665RYR1c.7060_7062del (p.Val2354del)
c.7057_7059del (p.Val2353del)
c.512_514del
n.7143_7145del
19g.38499662T>ACA405667845RYR1c.7055T>A (p.Val2352Glu)
c.7052T>A (p.Val2351Glu)
c.507T>A
n.7138T>A
 gnomAD v4
19g.38499662T>CCA405667848RYR1c.7055T>C (p.Val2352Ala)
c.7052T>C (p.Val2351Ala)
c.507T>C
n.7138T>C
19g.38499662T>GCA405667850RYR1c.7055T>G (p.Val2352Gly)
c.7052T>G (p.Val2351Gly)
c.507T>G
n.7138T>G
19g.38499663G>ACA507353818RYR1c.7056G>A (p.Val2352=)
c.7053G>A (p.Val2351=)
c.508G>A
n.7139G>A
 ClinVar dbSNP gnomAD v4
19g.38499663G>CCA507353820RYR1c.7056G>C (p.Val2352=)
c.7053G>C (p.Val2351=)
c.508G>C
n.7139G>C
19g.38499663G=CA2335052860RYR1c.7056G= (p.Val2352=)
c.7053G= (p.Val2351=)
c.508G=
n.7139G=
19g.38499663G>TCA507353821RYR1c.7056G>T (p.Val2352=)
c.7053G>T (p.Val2351=)
c.508G>T
n.7139G>T
 gnomAD v4
19g.38499663_38499664insTACA082287RYR1c.7056_7057insTA (p.Val2353Ter)
c.7053_7054insTA (p.Val2352Ter)
c.508_509insTA
n.7139_7140insTA
19g.38499664G>ACA069083RYR1c.7057G>A (p.Val2353Met)
c.7054G>A (p.Val2352Met)
c.509G>A
n.7140G>A
 dbSNP ExAC gnomAD v2
19g.38499664G>CCA405667854RYR1c.7057G>C (p.Val2353Leu)
c.7054G>C (p.Val2352Leu)
c.509G>C
n.7140G>C
19g.38499664G=CA2335052861RYR1c.7057G= (p.Val2353=)
c.7054G= (p.Val2352=)
c.509G=
n.7140G=
19g.38499664G>TCA405667856RYR1c.7057G>T (p.Val2353Leu)
c.7054G>T (p.Val2352Leu)
c.509G>T
n.7140G>T
 gnomAD v4
19g.38499665T>ACA405667858RYR1c.7058T>A (p.Val2353Glu)
c.7055T>A (p.Val2352Glu)
c.510T>A
n.7141T>A
19g.38499665T>CCA405667859RYR1c.7058T>C (p.Val2353Ala)
c.7055T>C (p.Val2352Ala)
c.510T>C
n.7141T>C
 dbSNP gnomAD v4
19g.38499665T>GCA405667862RYR1c.7058T>G (p.Val2353Gly)
c.7055T>G (p.Val2352Gly)
c.510T>G
n.7141T>G
19g.38499666G>ACA507353825RYR1c.7059G>A (p.Val2353=)
c.7056G>A (p.Val2352=)
c.511G>A
n.7142G>A
 gnomAD v4
19g.38499666G>CCA507353826RYR1c.7059G>C (p.Val2353=)
c.7056G>C (p.Val2352=)
c.511G>C
n.7142G>C
19g.38499666G=CA2335052862RYR1c.7059G= (p.Val2353=)
c.7056G= (p.Val2352=)
c.511G=
n.7142G=
19g.38499666G>TCA069089RYR1c.7059G>T (p.Val2353=)
c.7056G>T (p.Val2352=)
c.511G>T
n.7142G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499667G>ACA082317RYR1c.7060G>A (p.Val2354Met)
c.7057G>A (p.Val2353Met)
c.512G>A
n.7143G>A
 ClinVar dbSNP gnomAD v4
19g.38499667G>CCA405667878RYR1c.7060G>C (p.Val2354Leu)
c.7057G>C (p.Val2353Leu)
c.512G>C
n.7143G>C
 gnomAD v4
19g.38499667G=CA2335052863RYR1c.7060G= (p.Val2354=)
c.7057G= (p.Val2353=)
c.512G=
n.7143G=
19g.38499667G>TCA069094RYR1c.7060G>T (p.Val2354Leu)
c.7057G>T (p.Val2353Leu)
c.512G>T
n.7143G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499668T>ACA405667886RYR1c.7061T>A (p.Val2354Glu)
c.7058T>A (p.Val2353Glu)
c.513T>A
n.7144T>A
19g.38499668T>CCA405667882RYR1c.7061T>C (p.Val2354Ala)
c.7058T>C (p.Val2353Ala)
c.513T>C
n.7144T>C
19g.38499668T>GCA405667884RYR1c.7061T>G (p.Val2354Gly)
c.7058T>G (p.Val2353Gly)
c.513T>G
n.7144T>G
19g.38499669G>ACA507353827RYR1c.7062G>A (p.Val2354=)
c.7059G>A (p.Val2353=)
c.514G>A
n.7145G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38499669G>CCA507353828RYR1c.7062G>C (p.Val2354=)
c.7059G>C (p.Val2353=)
c.514G>C
n.7145G>C
19g.38499669G=CA2335052864RYR1c.7062G= (p.Val2354=)
c.7059G= (p.Val2353=)
c.514G=
n.7145G=
19g.38499669G>TCA082318RYR1c.7062G>T (p.Val2354=)
c.7059G>T (p.Val2353=)
c.514G>T
n.7145G>T
 gnomAD v4
19g.38499670C>ACA507353829RYR1c.7063C>A (p.Arg2355=)
c.7060C>A (p.Arg2354=)
c.515C>A
n.7146C>A
 gnomAD v4
19g.38499670C=CA2335052865RYR1c.7063C= (p.Arg2355=)
c.7060C= (p.Arg2354=)
c.515C=
n.7146C=
19g.38499670C>GCA405667890RYR1c.7063C>G (p.Arg2355Gly)
c.7060C>G (p.Arg2354Gly)
c.515C>G
n.7146C>G
19g.38499670C>TCA024693RYR1c.7063C>T (p.Arg2355Trp)
c.7060C>T (p.Arg2354Trp)
c.515C>T
n.7146C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499671G>ACA069098RYR1c.7064G>A (p.Arg2355Gln)
c.7061G>A (p.Arg2354Gln)
c.516G>A
n.7147G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499671G>CCA405667896RYR1c.7064G>C (p.Arg2355Pro)
c.7061G>C (p.Arg2354Pro)
c.516G>C
n.7147G>C
 gnomAD v4
19g.38499671G=CA2335052866RYR1c.7064G= (p.Arg2355=)
c.7061G= (p.Arg2354=)
c.516G=
n.7147G=
19g.38499671G>TCA405667897RYR1c.7064G>T (p.Arg2355Leu)
c.7061G>T (p.Arg2354Leu)
c.516G>T
n.7147G>T
 gnomAD v4
19g.38499672G>ACA507353830RYR1c.7065G>A (p.Arg2355=)
c.7062G>A (p.Arg2354=)
c.517G>A
n.7148G>A
 gnomAD v4
19g.38499672G>CCA507353831RYR1c.7065G>C (p.Arg2355=)
c.7062G>C (p.Arg2354=)
c.517G>C
n.7148G>C
19g.38499672G>TCA507353832RYR1c.7065G>T (p.Arg2355=)
c.7062G>T (p.Arg2354=)
c.517G>T
n.7148G>T
 gnomAD v4
19g.38499673C>ACA405667898RYR1c.7066C>A (p.Leu2356Met)
c.7063C>A (p.Leu2355Met)
c.518C>A
n.7149C>A
 gnomAD v4
19g.38499673C>GCA405667899RYR1c.7066C>G (p.Leu2356Val)
c.7063C>G (p.Leu2355Val)
c.518C>G
n.7149C>G
19g.38499673C>TCA082320RYR1c.7066C>T (p.Leu2356=)
c.7063C>T (p.Leu2355=)
c.518C>T
n.7149C>T
 gnomAD v4
19g.38499674T>ACA405667902RYR1c.7067T>A (p.Leu2356Gln)
c.7064T>A (p.Leu2355Gln)
c.519T>A
n.7150T>A
19g.38499674T>CCA405667904RYR1c.7067T>C (p.Leu2356Pro)
c.7064T>C (p.Leu2355Pro)
c.519T>C
n.7150T>C
19g.38499674T>GCA405667906RYR1c.7067T>G (p.Leu2356Arg)
c.7064T>G (p.Leu2355Arg)
c.519T>G
n.7150T>G
19g.38499675G>ACA507353833RYR1c.7068G>A (p.Leu2356=)
c.7065G>A (p.Leu2355=)
c.520G>A
n.7151G>A
 gnomAD v4
19g.38499675G>CCA507353834RYR1c.7068G>C (p.Leu2356=)
c.7065G>C (p.Leu2355=)
c.520G>C
n.7151G>C
 gnomAD v4
19g.38499675G>TCA507353835RYR1c.7068G>T (p.Leu2356=)
c.7065G>T (p.Leu2355=)
c.520G>T
n.7151G>T
 gnomAD v4
19g.38499676C>ACA405667907RYR1c.7069C>A (p.Leu2357Ile)
c.7066C>A (p.Leu2356Ile)
c.521C>A
n.7152C>A
19g.38499676C>GCA405667908RYR1c.7069C>G (p.Leu2357Val)
c.7066C>G (p.Leu2356Val)
c.521C>G
n.7152C>G
19g.38499676C>TCA405667909RYR1c.7069C>T (p.Leu2357Phe)
c.7066C>T (p.Leu2356Phe)
c.521C>T
n.7152C>T
 gnomAD v4
19g.38499677T>ACA405667915RYR1c.7070T>A (p.Leu2357His)
c.7067T>A (p.Leu2356His)
c.522T>A
n.7153T>A
19g.38499677T>CCA405667914RYR1c.7070T>C (p.Leu2357Pro)
c.7067T>C (p.Leu2356Pro)
c.522T>C
n.7153T>C
19g.38499677T>GCA405667910RYR1c.7070T>G (p.Leu2357Arg)
c.7067T>G (p.Leu2356Arg)
c.522T>G
n.7153T>G
19g.38499678C>ACA507353836RYR1c.7071C>A (p.Leu2357=)
c.7068C>A (p.Leu2356=)
c.523C>A
n.7154C>A
 gnomAD v4
19g.38499678C=CA2335052867RYR1c.7071C= (p.Leu2357=)
c.7068C= (p.Leu2356=)
c.523C=
n.7154C=
19g.38499678C>GCA507353838RYR1c.7071C>G (p.Leu2357=)
c.7068C>G (p.Leu2356=)
c.523C>G
n.7154C>G
19g.38499678C>TCA507353837RYR1c.7071C>T (p.Leu2357=)
c.7068C>T (p.Leu2356=)
c.523C>T
n.7154C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38499679A=CA2335052868RYR1c.7072A= (p.Ile2358=)
c.7069A= (p.Ile2357=)
c.524A=
n.7155A=
19g.38499679A>CCA069102RYR1c.7072A>C (p.Ile2358Leu)
c.7069A>C (p.Ile2357Leu)
c.524A>C
n.7155A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499679A>GCA405667921RYR1c.7072A>G (p.Ile2358Val)
c.7069A>G (p.Ile2357Val)
c.524A>G
n.7155A>G
19g.38499679A>TCA405667922RYR1c.7072A>T (p.Ile2358Phe)
c.7069A>T (p.Ile2357Phe)
c.524A>T
n.7155A>T
 dbSNP
19g.38499680T>ACA405667924RYR1c.7073T>A (p.Ile2358Asn)
c.7070T>A (p.Ile2357Asn)
c.525T>A
n.7156T>A
 ClinVar dbSNP
19g.38499680T>CCA405667926RYR1c.7073T>C (p.Ile2358Thr)
c.7070T>C (p.Ile2357Thr)
c.525T>C
n.7156T>C
19g.38499680T>GCA405667940RYR1c.7073T>G (p.Ile2358Ser)
c.7070T>G (p.Ile2357Ser)
c.525T>G
n.7156T>G
19g.38499680T=CA2335052869RYR1c.7073T= (p.Ile2358=)
c.7070T= (p.Ile2357=)
c.525T=
n.7156T=
19g.38499681C>ACA507353839RYR1c.7074C>A (p.Ile2358=)
c.7071C>A (p.Ile2357=)
c.526C>A
n.7157C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38499681C=CA2335052870RYR1c.7074C= (p.Ile2358=)
c.7071C= (p.Ile2357=)
c.526C=
n.7157C=
19g.38499681C>GCA405667943RYR1c.7074C>G (p.Ile2358Met)
c.7071C>G (p.Ile2357Met)
c.526C>G
n.7157C>G
19g.38499681C>TCA507353840RYR1c.7074C>T (p.Ile2358=)
c.7071C>T (p.Ile2357=)
c.526C>T
n.7157C>T
 gnomAD v4
19g.38499682C>ACA507353841RYR1c.7075C>A (p.Arg2359=)
c.7072C>A (p.Arg2358=)
c.527C>A
n.7158C>A
 gnomAD v4
19g.38499682C=CA2335052871RYR1c.7075C= (p.Arg2359=)
c.7072C= (p.Arg2358=)
c.527C=
n.7158C=
19g.38499682C>GCA405667946RYR1c.7075C>G (p.Arg2359Gly)
c.7072C>G (p.Arg2358Gly)
c.527C>G
n.7158C>G
19g.38499682C>TCA069103RYR1c.7075C>T (p.Arg2359Trp)
c.7072C>T (p.Arg2358Trp)
c.527C>T
n.7158C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499683G>ACA405667952RYR1c.7076G>A (p.Arg2359Gln)
c.7073G>A (p.Arg2358Gln)
c.528G>A
n.7159G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499683G>CCA405667953RYR1c.7076G>C (p.Arg2359Pro)
c.7073G>C (p.Arg2358Pro)
c.528G>C
n.7159G>C
19g.38499683G=CA2335052872RYR1c.7076G= (p.Arg2359=)
c.7073G= (p.Arg2358=)
c.528G=
n.7159G=
19g.38499683G>TCA405667955RYR1c.7076G>T (p.Arg2359Leu)
c.7073G>T (p.Arg2358Leu)
c.528G>T
n.7159G>T
 gnomAD v4 COSMIC
19g.38499684G>ACA507353842RYR1c.7077G>A (p.Arg2359=)
c.7074G>A (p.Arg2358=)
c.529G>A
n.7160G>A
 gnomAD v4
19g.38499684G>CCA507353843RYR1c.7077G>C (p.Arg2359=)
c.7074G>C (p.Arg2358=)
c.529G>C
n.7160G>C
19g.38499684G=CA2335052873RYR1c.7077G= (p.Arg2359=)
c.7074G= (p.Arg2358=)
c.529G=
n.7160G=
19g.38499684G>TCA069107RYR1c.7077G>T (p.Arg2359=)
c.7074G>T (p.Arg2358=)
c.529G>T
n.7160G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499685A>CCA405667965RYR1c.7078A>C (p.Lys2360Gln)
c.7075A>C (p.Lys2359Gln)
c.530A>C
n.7161A>C
19g.38499685A>GCA405667964RYR1c.7078A>G (p.Lys2360Glu)
c.7075A>G (p.Lys2359Glu)
c.530A>G
n.7161A>G
19g.38499685A>TCA405667962RYR1c.7078A>T (p.Lys2360Ter)
c.7075A>T (p.Lys2359Ter)
c.530A>T
n.7161A>T
19g.38499686A>CCA405667969RYR1c.7079A>C (p.Lys2360Thr)
c.7076A>C (p.Lys2359Thr)
c.531A>C
n.7162A>C
19g.38499686A>GCA405667970RYR1c.7079A>G (p.Lys2360Arg)
c.7076A>G (p.Lys2359Arg)
c.531A>G
n.7162A>G
19g.38499686A>TCA405667971RYR1c.7079A>T (p.Lys2360Met)
c.7076A>T (p.Lys2359Met)
c.531A>T
n.7162A>T
19g.38499687G>ACA507353844RYR1c.7080G>A (p.Lys2360=)
c.7077G>A (p.Lys2359=)
c.532G>A
n.7163G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499687G>CCA405667972RYR1c.7080G>C (p.Lys2360Asn)
c.7077G>C (p.Lys2359Asn)
c.532G>C
n.7163G>C
19g.38499687G=CA2335052874RYR1c.7080G= (p.Lys2360=)
c.7077G= (p.Lys2359=)
c.532G=
n.7163G=
19g.38499687G>TCA082324RYR1c.7080G>T (p.Lys2360Asn)
c.7077G>T (p.Lys2359Asn)
c.532G>T
n.7163G>T
 gnomAD v4
19g.38499687dupCA2695228666RYR1c.7080dup (p.Pro2361AlafsTer2)
c.7077dup (p.Pro2360AlafsTer2)
c.532dup
n.7163dup
19g.38499688C>ACA405667973RYR1c.7081C>A (p.Pro2361Thr)
c.7078C>A (p.Pro2360Thr)
c.533C>A
n.7164C>A
 gnomAD v4
19g.38499688C>GCA405667974RYR1c.7081C>G (p.Pro2361Ala)
c.7078C>G (p.Pro2360Ala)
c.533C>G
n.7164C>G
19g.38499688C>TCA405667977RYR1c.7081C>T (p.Pro2361Ser)
c.7078C>T (p.Pro2360Ser)
c.533C>T
n.7164C>T
 gnomAD v4
19g.38499689C>ACA405667979RYR1c.7082C>A (p.Pro2361His)
c.7079C>A (p.Pro2360His)
c.534C>A
n.7165C>A
 gnomAD v4
19g.38499689C=CA2335052875RYR1c.7082C= (p.Pro2361=)
c.7079C= (p.Pro2360=)
c.534C=
n.7165C=
19g.38499689C>GCA405667980RYR1c.7082C>G (p.Pro2361Arg)
c.7079C>G (p.Pro2360Arg)
c.534C>G
n.7165C>G
 ClinVar dbSNP
19g.38499689C>TCA405667982RYR1c.7082C>T (p.Pro2361Leu)
c.7079C>T (p.Pro2360Leu)
c.534C>T
n.7165C>T
19g.38499690T>ACA507353845RYR1c.7083T>A (p.Pro2361=)
c.7080T>A (p.Pro2360=)
c.535T>A
n.7166T>A
 gnomAD v4
19g.38499690T>CCA507353847RYR1c.7083T>C (p.Pro2361=)
c.7080T>C (p.Pro2360=)
c.535T>C
n.7166T>C
 dbSNP gnomAD v3 gnomAD v4
19g.38499690T>GCA507353846RYR1c.7083T>G (p.Pro2361=)
c.7080T>G (p.Pro2360=)
c.535T>G
n.7166T>G
19g.38499690T=CA2335052876RYR1c.7083T= (p.Pro2361=)
c.7080T= (p.Pro2360=)
c.535T=
n.7166T=
19g.38499691G>ACA069115RYR1c.7084G>A (p.Glu2362Lys)
c.7081G>A (p.Glu2361Lys)
c.536G>A
n.7167G>A
 ClinVar dbSNP ExAC
19g.38499691G>CCA405667985RYR1c.7084G>C (p.Glu2362Gln)
c.7081G>C (p.Glu2361Gln)
c.536G>C
n.7167G>C
19g.38499691G=CA2335052877RYR1c.7084G= (p.Glu2362=)
c.7081G= (p.Glu2361=)
c.536G=
n.7167G=
19g.38499691G>TCA405667987RYR1c.7084G>T (p.Glu2362Ter)
c.7081G>T (p.Glu2361Ter)
c.536G>T
n.7167G>T
 gnomAD v4
19g.38499692A=CA2335052878RYR1c.7085A= (p.Glu2362=)
c.7082A= (p.Glu2361=)
c.537A=
n.7168A=
19g.38499692A>CCA405667991RYR1c.7085A>C (p.Glu2362Ala)
c.7082A>C (p.Glu2361Ala)
c.537A>C
n.7168A>C
19g.38499692A>GCA024696RYR1c.7085A>G (p.Glu2362Gly)
c.7082A>G (p.Glu2361Gly)
c.537A>G
n.7168A>G
 ClinVar dbSNP
19g.38499692A>TCA405667989RYR1c.7085A>T (p.Glu2362Val)
c.7082A>T (p.Glu2361Val)
c.537A>T
n.7168A>T
 gnomAD v4
19g.38499693G>ACA507353848RYR1c.7086G>A (p.Glu2362=)
c.7083G>A (p.Glu2361=)
c.538G>A
n.7169G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38499693G>CCA405667994RYR1c.7086G>C (p.Glu2362Asp)
c.7083G>C (p.Glu2361Asp)
c.538G>C
n.7169G>C
19g.38499693G=CA2335052879RYR1c.7086G= (p.Glu2362=)
c.7083G= (p.Glu2361=)
c.538G=
n.7169G=
19g.38499693G>TCA405667997RYR1c.7086G>T (p.Glu2362Asp)
c.7083G>T (p.Glu2361Asp)
c.538G>T
n.7169G>T
19g.38499694T>ACA405668000RYR1c.7087T>A (p.Cys2363Ser)
c.7084T>A (p.Cys2362Ser)
c.539T>A
n.7170T>A
19g.38499694T>CCA308109461RYR1c.7087T>C (p.Cys2363Arg)
c.7084T>C (p.Cys2362Arg)
c.539T>C
n.7170T>C
 dbSNP gnomAD v4
19g.38499694T>GCA405668003RYR1c.7087T>G (p.Cys2363Gly)
c.7084T>G (p.Cys2362Gly)
c.539T>G
n.7170T>G
19g.38499694T=CA2335052880RYR1c.7087T= (p.Cys2363=)
c.7084T= (p.Cys2362=)
c.539T=
n.7170T=
19g.38499695G>ACA405668004RYR1c.7088G>A (p.Cys2363Tyr)
c.7085G>A (p.Cys2362Tyr)
c.540G>A
n.7171G>A
19g.38499695G>CCA405668005RYR1c.7088G>C (p.Cys2363Ser)
c.7085G>C (p.Cys2362Ser)
c.540G>C
n.7171G>C
19g.38499695G>TCA405668006RYR1c.7088G>T (p.Cys2363Phe)
c.7085G>T (p.Cys2362Phe)
c.540G>T
n.7171G>T
 gnomAD v4
19g.38499696delCA995715518RYR1c.7089del (p.Phe2364SerfsTer?)
c.7086del (p.Phe2363SerfsTer?)
c.541del
n.7172del
 gnomAD v3 gnomAD v4
19g.38499696C>ACA405668008RYR1c.7089C>A (p.Cys2363Ter)
c.7086C>A (p.Cys2362Ter)
c.541C>A
n.7172C>A
 gnomAD v4
19g.38499696C=CA2335052881RYR1c.7089C= (p.Cys2363=)
c.7086C= (p.Cys2362=)
c.541C=
n.7172C=
19g.38499696C>GCA405668010RYR1c.7089C>G (p.Cys2363Trp)
c.7086C>G (p.Cys2362Trp)
c.541C>G
n.7172C>G
 ClinVar dbSNP
19g.38499696C>TCA024700RYR1c.7089C>T (p.Cys2363=)
c.7086C>T (p.Cys2362=)
c.541C>T
n.7172C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499697T>ACA405668012RYR1c.7090T>A (p.Phe2364Ile)
c.7087T>A (p.Phe2363Ile)
c.542T>A
n.7173T>A
19g.38499697T>CCA405668014RYR1c.7090T>C (p.Phe2364Leu)
c.7087T>C (p.Phe2363Leu)
c.542T>C
n.7173T>C
 gnomAD v4
19g.38499697T>GCA024702RYR1c.7090T>G (p.Phe2364Val)
c.7087T>G (p.Phe2363Val)
c.542T>G
n.7173T>G
 ClinVar dbSNP gnomAD v4
19g.38499697T=CA2335052882RYR1c.7090T= (p.Phe2364=)
c.7087T= (p.Phe2363=)
c.542T=
n.7173T=
19g.38499697_38499698insAGATCCA995715519RYR1c.7090_7091insAGATC (p.Phe2364Ter)
c.7087_7088insAGATC (p.Phe2363Ter)
c.542_543insAGATC
n.7173_7174insAGATC
 gnomAD v3 gnomAD v4
19g.38499698T>ACA405668024RYR1c.7091T>A (p.Phe2364Tyr)
c.7088T>A (p.Phe2363Tyr)
c.543T>A
n.7174T>A
19g.38499698T>CCA405668025RYR1c.7091T>C (p.Phe2364Ser)
c.7088T>C (p.Phe2363Ser)
c.543T>C
n.7174T>C
19g.38499698T>GCA405668021RYR1c.7091T>G (p.Phe2364Cys)
c.7088T>G (p.Phe2363Cys)
c.543T>G
n.7174T>G
19g.38499699C>ACA405668028RYR1c.7092C>A (p.Phe2364Leu)
c.7089C>A (p.Phe2363Leu)
c.544C>A
n.7175C>A
 gnomAD v4
19g.38499699C=CA2335052883RYR1c.7092C= (p.Phe2364=)
c.7089C= (p.Phe2363=)
c.544C=
n.7175C=
19g.38499699C>GCA405668029RYR1c.7092C>G (p.Phe2364Leu)
c.7089C>G (p.Phe2363Leu)
c.544C>G
n.7175C>G
19g.38499699C>TCA069122RYR1c.7092C>T (p.Phe2364=)
c.7089C>T (p.Phe2363=)
c.544C>T
n.7175C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499702_38499714delCA2576771077RYR1c.7095_7107del (p.Pro2366ValfsTer?)
c.7092_7104del (p.Pro2365ValfsTer?)
c.547_559del
n.7178_7190del
19g.38499700G>ACA069126RYR1c.7093G>A (p.Gly2365Arg)
c.7090G>A (p.Gly2364Arg)
c.545G>A
n.7176G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499700G>CCA405668030RYR1c.7093G>C (p.Gly2365Arg)
c.7090G>C (p.Gly2364Arg)
c.545G>C
n.7176G>C
 dbSNP
19g.38499700G=CA2335052884RYR1c.7093G= (p.Gly2365=)
c.7090G= (p.Gly2364=)
c.545G=
n.7176G=
19g.38499700G>TCA405668033RYR1c.7093G>T (p.Gly2365Ter)
c.7090G>T (p.Gly2364Ter)
c.545G>T
n.7176G>T
 dbSNP gnomAD v4
19g.38499701G>ACA405668034RYR1c.7094G>A (p.Gly2365Glu)
c.7091G>A (p.Gly2364Glu)
c.546G>A
n.7177G>A
19g.38499701G>CCA405668035RYR1c.7094G>C (p.Gly2365Ala)
c.7091G>C (p.Gly2364Ala)
c.546G>C
n.7177G>C
19g.38499701G>TCA405668036RYR1c.7094G>T (p.Gly2365Val)
c.7091G>T (p.Gly2364Val)
c.546G>T
n.7177G>T
 gnomAD v4
19g.38499702A=CA2335052885RYR1c.7095A= (p.Gly2365=)
c.7092A= (p.Gly2364=)
c.547A=
n.7178A=
19g.38499702A>CCA507353849RYR1c.7095A>C (p.Gly2365=)
c.7092A>C (p.Gly2364=)
c.547A>C
n.7178A>C
 dbSNP
19g.38499702A>GCA507353850RYR1c.7095A>G (p.Gly2365=)
c.7092A>G (p.Gly2364=)
c.547A>G
n.7178A>G
19g.38499702A>TCA507353851RYR1c.7095A>T (p.Gly2365=)
c.7092A>T (p.Gly2364=)
c.547A>T
n.7178A>T
19g.38499702_38499709delCA2584900036RYR1c.7095_7102del (p.Pro2366AlafsTer3)
c.7092_7099del (p.Pro2365AlafsTer3)
c.547_554del
n.7178_7185del
 gnomAD v4
19g.38499703C>ACA405668037RYR1c.7096C>A (p.Pro2366Thr)
c.7093C>A (p.Pro2365Thr)
c.548C>A
n.7179C>A
 gnomAD v4
19g.38499703C>GCA405668038RYR1c.7096C>G (p.Pro2366Ala)
c.7093C>G (p.Pro2365Ala)
c.548C>G
n.7179C>G
19g.38499703C>TCA405668039RYR1c.7096C>T (p.Pro2366Ser)
c.7093C>T (p.Pro2365Ser)
c.548C>T
n.7179C>T
 gnomAD v4
19g.38499704C>ACA405668042RYR1c.7097C>A (p.Pro2366His)
c.7094C>A (p.Pro2365His)
c.549C>A
n.7180C>A
 gnomAD v4
19g.38499704C=CA2335052886RYR1c.7097C= (p.Pro2366=)
c.7094C= (p.Pro2365=)
c.549C=
n.7180C=
19g.38499704C>GCA024705RYR1c.7097C>G (p.Pro2366Arg)
c.7094C>G (p.Pro2365Arg)
c.549C>G
n.7180C>G
 ClinVar dbSNP
19g.38499704C>TCA405668041RYR1c.7097C>T (p.Pro2366Leu)
c.7094C>T (p.Pro2365Leu)
c.549C>T
n.7180C>T
19g.38499705C>ACA069130RYR1c.7098C>A (p.Pro2366=)
c.7095C>A (p.Pro2365=)
c.550C>A
n.7181C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499705C=CA2335052887RYR1c.7098C= (p.Pro2366=)
c.7095C= (p.Pro2365=)
c.550C=
n.7181C=
19g.38499705C>GCA507353852RYR1c.7098C>G (p.Pro2366=)
c.7095C>G (p.Pro2365=)
c.550C>G
n.7181C>G
19g.38499705C>TCA024708RYR1c.7098C>T (p.Pro2366=)
c.7095C>T (p.Pro2365=)
c.550C>T
n.7181C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499706G>ACA024711RYR1c.7099G>A (p.Ala2367Thr)
c.7096G>A (p.Ala2366Thr)
c.551G>A
n.7182G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499706G>CCA405668043RYR1c.7099G>C (p.Ala2367Pro)
c.7096G>C (p.Ala2366Pro)
c.551G>C
n.7182G>C
19g.38499706G=CA2335052888RYR1c.7099G= (p.Ala2367=)
c.7096G= (p.Ala2366=)
c.551G=
n.7182G=
19g.38499706G>TCA308109524RYR1c.7099G>T (p.Ala2367Ser)
c.7096G>T (p.Ala2366Ser)
c.551G>T
n.7182G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38499707C>ACA405668048RYR1c.7100C>A (p.Ala2367Asp)
c.7097C>A (p.Ala2366Asp)
c.552C>A
n.7183C>A
19g.38499707C=CA2335052889RYR1c.7100C= (p.Ala2367=)
c.7097C= (p.Ala2366=)
c.552C=
n.7183C=
19g.38499707C>GCA405668049RYR1c.7100C>G (p.Ala2367Gly)
c.7097C>G (p.Ala2366Gly)
c.552C>G
n.7183C>G
19g.38499707C>TCA069143RYR1c.7100C>T (p.Ala2367Val)
c.7097C>T (p.Ala2366Val)
c.552C>T
n.7183C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499708C>ACA082328RYR1c.7101C>A (p.Ala2367=)
c.7098C>A (p.Ala2366=)
c.553C>A
n.7184C>A
19g.38499708C=CA2335052890RYR1c.7101C= (p.Ala2367=)
c.7098C= (p.Ala2366=)
c.553C=
n.7184C=
19g.38499708C>GCA507353853RYR1c.7101C>G (p.Ala2367=)
c.7098C>G (p.Ala2366=)
c.553C>G
n.7184C>G
19g.38499708C>TCA082329RYR1c.7101C>T (p.Ala2367=)
c.7098C>T (p.Ala2366=)
c.553C>T
n.7184C>T
 dbSNP gnomAD v3 gnomAD v4
19g.38499709C>ACA405668055RYR1c.7102C>A (p.Leu2368Met)
c.7099C>A (p.Leu2367Met)
c.554C>A
n.7185C>A
 gnomAD v4
19g.38499709C=CA2335052891RYR1c.7102C= (p.Leu2368=)
c.7099C= (p.Leu2367=)
c.554C=
n.7185C=
19g.38499709C>GCA069148RYR1c.7102C>G (p.Leu2368Val)
c.7099C>G (p.Leu2367Val)
c.554C>G
n.7185C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499709C>TCA024715RYR1c.7102C>T (p.Leu2368=)
c.7099C>T (p.Leu2367=)
c.554C>T
n.7185C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499710T>ACA405668067RYR1c.7103T>A (p.Leu2368Gln)
c.7100T>A (p.Leu2367Gln)
c.555T>A
n.7186T>A
19g.38499710T>CCA405668074RYR1c.7103T>C (p.Leu2368Pro)
c.7100T>C (p.Leu2367Pro)
c.555T>C
n.7186T>C
 dbSNP
19g.38499710T>GCA405668073RYR1c.7103T>G (p.Leu2368Arg)
c.7100T>G (p.Leu2367Arg)
c.555T>G
n.7186T>G
19g.38499710T=CA2335052892RYR1c.7103T= (p.Leu2368=)
c.7100T= (p.Leu2367=)
c.555T=
n.7186T=
19g.38499711G>ACA507353854RYR1c.7104G>A (p.Leu2368=)
c.7101G>A (p.Leu2367=)
c.556G>A
n.7187G>A
 gnomAD v4
19g.38499711G>CCA507353855RYR1c.7104G>C (p.Leu2368=)
c.7101G>C (p.Leu2367=)
c.556G>C
n.7187G>C
19g.38499711G>TCA507353856RYR1c.7104G>T (p.Leu2368=)
c.7101G>T (p.Leu2367=)
c.556G>T
n.7187G>T
 gnomAD v4
19g.38499712_38499721delCA995715538RYR1c.7105_7114del (p.Arg2369ValfsTer?)
c.7102_7111del (p.Arg2368ValfsTer?)
c.557_566del
n.7188_7197del
 gnomAD v3 gnomAD v4
19g.38499712C>ACA069152RYR1c.7105C>A (p.Arg2369=)
c.7102C>A (p.Arg2368=)
c.557C>A
n.7188C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499712C=CA2335052893RYR1c.7105C= (p.Arg2369=)
c.7102C= (p.Arg2368=)
c.557C=
n.7188C=
19g.38499712C>GCA082332RYR1c.7105C>G (p.Arg2369Gly)
c.7102C>G (p.Arg2368Gly)
c.557C>G
n.7188C>G
 gnomAD v4
19g.38499712C>TCA405668091RYR1c.7105C>T (p.Arg2369Trp)
c.7102C>T (p.Arg2368Trp)
c.557C>T
n.7188C>T
 ClinVar dbSNP gnomAD v4 COSMIC
19g.38499713G>ACA069158RYR1c.7106G>A (p.Arg2369Gln)
c.7103G>A (p.Arg2368Gln)
c.558G>A
n.7189G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38499713G>CCA405668104RYR1c.7106G>C (p.Arg2369Pro)
c.7103G>C (p.Arg2368Pro)
c.558G>C
n.7189G>C
19g.38499713G=CA2335052894RYR1c.7106G= (p.Arg2369=)
c.7103G= (p.Arg2368=)
c.558G=
n.7189G=
19g.38499713G>TCA405668100RYR1c.7106G>T (p.Arg2369Leu)
c.7103G>T (p.Arg2368Leu)
c.558G>T
n.7189G>T
 dbSNP gnomAD v4
19g.38499716delCA2584900037RYR1c.7109del (p.Gly2370ValfsTer?)
c.7106del (p.Gly2369ValfsTer?)
c.561del
n.7192del
 gnomAD v4
19g.38499714G>ACA507353857RYR1c.7107G>A (p.Arg2369=)
c.7104G>A (p.Arg2368=)
c.559G>A
n.7190G>A
 ClinVar dbSNP gnomAD v4
19g.38499714G>CCA507353858RYR1c.7107G>C (p.Arg2369=)
c.7104G>C (p.Arg2368=)
c.559G>C
n.7190G>C
19g.38499714G>TCA507353859RYR1c.7107G>T (p.Arg2369=)
c.7104G>T (p.Arg2368=)
c.559G>T
n.7190G>T
 gnomAD v4
19g.38499715G>ACA308109549RYR1c.7108G>A (p.Gly2370Ser)
c.7105G>A (p.Gly2369Ser)
c.560G>A
n.7191G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499715G>CCA405668121RYR1c.7108G>C (p.Gly2370Arg)
c.7105G>C (p.Gly2369Arg)
c.560G>C
n.7191G>C
19g.38499715G=CA2335052895RYR1c.7108G= (p.Gly2370=)
c.7105G= (p.Gly2369=)
c.560G=
n.7191G=
19g.38499715G>TCA405668126RYR1c.7108G>T (p.Gly2370Cys)
c.7105G>T (p.Gly2369Cys)
c.560G>T
n.7191G>T
 gnomAD v4
19g.38499716G>ACA082334RYR1c.7109G>A (p.Gly2370Asp)
c.7106G>A (p.Gly2369Asp)
c.561G>A
n.7192G>A
 gnomAD v4
19g.38499716G>CCA405668129RYR1c.7109G>C (p.Gly2370Ala)
c.7106G>C (p.Gly2369Ala)
c.561G>C
n.7192G>C
19g.38499716G=CA2335052896RYR1c.7109G= (p.Gly2370=)
c.7106G= (p.Gly2369=)
c.561G=
n.7192G=
19g.38499716G>TCA405668130RYR1c.7109G>T (p.Gly2370Val)
c.7106G>T (p.Gly2369Val)
c.561G>T
n.7192G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38499717T>ACA507353860RYR1c.7110T>A (p.Gly2370=)
c.7107T>A (p.Gly2369=)
c.562T>A
n.7193T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38499717T>CCA507353861RYR1c.7110T>C (p.Gly2370=)
c.7107T>C (p.Gly2369=)
c.562T>C
n.7193T>C
 gnomAD v4
19g.38499717T>GCA507353862RYR1c.7110T>G (p.Gly2370=)
c.7107T>G (p.Gly2369=)
c.562T>G
n.7193T>G
19g.38499717T=CA2335052897RYR1c.7110T= (p.Gly2370=)
c.7107T= (p.Gly2369=)
c.562T=
n.7193T=
19g.38499718G>ACA16043555RYR1c.7111G>A (p.Glu2371Lys)
c.7108G>A (p.Glu2370Lys)
c.563G>A
n.7194G>A
 ClinVar dbSNP
19g.38499718G>CCA405668151RYR1c.7111G>C (p.Glu2371Gln)
c.7108G>C (p.Glu2370Gln)
c.563G>C
n.7194G>C
19g.38499718G=CA2335052898RYR1c.7111G= (p.Glu2371=)
c.7108G= (p.Glu2370=)
c.563G=
n.7194G=
19g.38499718G>TCA405668153RYR1c.7111G>T (p.Glu2371Ter)
c.7108G>T (p.Glu2370Ter)
c.563G>T
n.7194G>T
 gnomAD v4

Number of alleles fetched