Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38517380T>ACA405691397RYR1c.9646T>A (n.9646T>A)
c.9707T>A (p.Val3236Glu)
c.9704T>A (p.Val3235Glu)
c.3109T>A
c.514T>A
n.9740T>A
 gnomAD v4
19g.38517380T>CCA405691401RYR1c.9646T>C (n.9646T>C)
c.9707T>C (p.Val3236Ala)
c.9704T>C (p.Val3235Ala)
c.3109T>C
c.514T>C
n.9740T>C
19g.38517380T>GCA405691402RYR1c.9646T>G (n.9646T>G)
c.9707T>G (p.Val3236Gly)
c.9704T>G (p.Val3235Gly)
c.3109T>G
c.514T>G
n.9740T>G
19g.38517380_38517383delinsTGGACA2335061999RYR1c.9646_9649delinsTGGA (n.9646_9649delinsTGGA)
c.9707_9710delinsTGGA (p.Val3236=)
c.9704_9707delinsTGGA (p.Val3235=)
c.3109_3112delinsTGGA
c.514_517delinsTGGA
n.9740_9743delinsTGGA
19g.38517381G>ACA507247090RYR1c.9647G>A (n.9647G>A)
c.9708G>A (p.Val3236=)
c.9705G>A (p.Val3235=)
c.3110G>A
c.515G>A
n.9741G>A
 ClinVar dbSNP gnomAD v4
19g.38517381G>CCA507247089RYR1c.9647G>C (n.9647G>C)
c.9708G>C (p.Val3236=)
c.9705G>C (p.Val3235=)
c.3110G>C
c.515G>C
n.9741G>C
19g.38517381G=CA2335062000RYR1c.9647G= (n.9647G=)
c.9708G= (p.Val3236=)
c.9705G= (p.Val3235=)
c.3110G=
c.515G=
n.9741G=
19g.38517381G>TCA507247088RYR1c.9647G>T (n.9647G>T)
c.9708G>T (p.Val3236=)
c.9705G>T (p.Val3235=)
c.3110G>T
c.515G>T
n.9741G>T
19g.38517385_38517387delCA074071RYR1c.9651_9653del (n.9651_9653del)
c.9712_9714del (p.Glu3238del)
c.9709_9711del (p.Glu3237del)
c.3114_3116del
c.519_521del
n.9745_9747del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517382G>ACA084838RYR1c.9648G>A (n.9648G>A)
c.9709G>A (p.Glu3237Lys)
c.9706G>A (p.Glu3236Lys)
c.3111G>A
c.516G>A
n.9742G>A
19g.38517382G>CCA405691407RYR1c.9648G>C (n.9648G>C)
c.9709G>C (p.Glu3237Gln)
c.9706G>C (p.Glu3236Gln)
c.3111G>C
c.516G>C
n.9742G>C
19g.38517382G>TCA405691406RYR1c.9648G>T (n.9648G>T)
c.9709G>T (p.Glu3237Ter)
c.9706G>T (p.Glu3236Ter)
c.3111G>T
c.516G>T
n.9742G>T
19g.38517383A>CCA405691408RYR1c.9649A>C (n.9649A>C)
c.9710A>C (p.Glu3237Ala)
c.9707A>C (p.Glu3236Ala)
c.3112A>C
c.517A>C
n.9743A>C
19g.38517383A>GCA405691409RYR1c.9649A>G (n.9649A>G)
c.9710A>G (p.Glu3237Gly)
c.9707A>G (p.Glu3236Gly)
c.3112A>G
c.517A>G
n.9743A>G
19g.38517383A>TCA405691410RYR1c.9649A>T (n.9649A>T)
c.9710A>T (p.Glu3237Val)
c.9707A>T (p.Glu3236Val)
c.3112A>T
c.517A>T
n.9743A>T
19g.38517384G>ACA507247091RYR1c.9650G>A (n.9650G>A)
c.9711G>A (p.Glu3237=)
c.9708G>A (p.Glu3236=)
c.3113G>A
c.518G>A
n.9744G>A
19g.38517384G>CCA405691412RYR1c.9650G>C (n.9650G>C)
c.9711G>C (p.Glu3237Asp)
c.9708G>C (p.Glu3236Asp)
c.3113G>C
c.518G>C
n.9744G>C
19g.38517384G>TCA405691415RYR1c.9650G>T (n.9650G>T)
c.9711G>T (p.Glu3237Asp)
c.9708G>T (p.Glu3236Asp)
c.3113G>T
c.518G>T
n.9744G>T
19g.38517385G>ACA405691420RYR1c.9651G>A (n.9651G>A)
c.9712G>A (p.Glu3238Lys)
c.9709G>A (p.Glu3237Lys)
c.3114G>A
c.519G>A
n.9745G>A
19g.38517385G>CCA405691429RYR1c.9651G>C (n.9651G>C)
c.9712G>C (p.Glu3238Gln)
c.9709G>C (p.Glu3237Gln)
c.3114G>C
c.519G>C
n.9745G>C
 gnomAD v4
19g.38517385G>TCA405691435RYR1c.9651G>T (n.9651G>T)
c.9712G>T (p.Glu3238Ter)
c.9709G>T (p.Glu3237Ter)
c.3114G>T
c.519G>T
n.9745G>T
19g.38517386A=CA2335062001RYR1c.9652A= (n.9652A=)
c.9713A= (p.Glu3238=)
c.9710A= (p.Glu3237=)
c.3115A=
c.520A=
n.9746A=
19g.38517386A>CCA405691441RYR1c.9652A>C (n.9652A>C)
c.9713A>C (p.Glu3238Ala)
c.9710A>C (p.Glu3237Ala)
c.3115A>C
c.520A>C
n.9746A>C
19g.38517386A>GCA024999RYR1c.9652A>G (n.9652A>G)
c.9713A>G (p.Glu3238Gly)
c.9710A>G (p.Glu3237Gly)
c.3115A>G
c.520A>G
n.9746A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517386A>TCA405691446RYR1c.9652A>T (n.9652A>T)
c.9713A>T (p.Glu3238Val)
c.9710A>T (p.Glu3237Val)
c.3115A>T
c.520A>T
n.9746A>T
19g.38517387G>ACA507247092RYR1c.9653G>A (n.9653G>A)
c.9714G>A (p.Glu3238=)
c.9711G>A (p.Glu3237=)
c.3116G>A
c.521G>A
n.9747G>A
19g.38517387G>CCA405691449RYR1c.9653G>C (n.9653G>C)
c.9714G>C (p.Glu3238Asp)
c.9711G>C (p.Glu3237Asp)
c.3116G>C
c.521G>C
n.9747G>C
19g.38517387G>TCA405691450RYR1c.9653G>T (n.9653G>T)
c.9714G>T (p.Glu3238Asp)
c.9711G>T (p.Glu3237Asp)
c.3116G>T
c.521G>T
n.9747G>T
19g.38517388A=CA2335062002RYR1c.9654A= (n.9654A=)
c.9715A= (p.Met3239=)
c.9712A= (p.Met3238=)
c.3117A=
c.522A=
n.9748A=
19g.38517388A>CCA405691461RYR1c.9654A>C (n.9654A>C)
c.9715A>C (p.Met3239Leu)
c.9712A>C (p.Met3238Leu)
c.3117A>C
c.522A>C
n.9748A>C
19g.38517388A>GCA405691456RYR1c.9654A>G (n.9654A>G)
c.9715A>G (p.Met3239Val)
c.9712A>G (p.Met3238Val)
c.3117A>G
c.522A>G
n.9748A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38517388A>TCA405691453RYR1c.9654A>T (n.9654A>T)
c.9715A>T (p.Met3239Leu)
c.9712A>T (p.Met3238Leu)
c.3117A>T
c.522A>T
n.9748A>T
19g.38517389T>ACA074078RYR1c.9655T>A (n.9655T>A)
c.9716T>A (p.Met3239Lys)
c.9713T>A (p.Met3238Lys)
c.3118T>A
c.523T>A
n.9749T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517389T>CCA405691462RYR1c.9655T>C (n.9655T>C)
c.9716T>C (p.Met3239Thr)
c.9713T>C (p.Met3238Thr)
c.3118T>C
c.523T>C
n.9749T>C
19g.38517389T>GCA405691463RYR1c.9655T>G (n.9655T>G)
c.9716T>G (p.Met3239Arg)
c.9713T>G (p.Met3238Arg)
c.3118T>G
c.523T>G
n.9749T>G
 gnomAD v4
19g.38517389T=CA2335062003RYR1c.9655T= (n.9655T=)
c.9716T= (p.Met3239=)
c.9713T= (p.Met3238=)
c.3118T=
c.523T=
n.9749T=
19g.38517390G>ACA084793RYR1c.9656G>A (n.9656G>A)
c.9717G>A (p.Met3239Ile)
c.9714G>A (p.Met3238Ile)
c.3119G>A
c.524G>A
n.9750G>A
 gnomAD v4
19g.38517390G>CCA405691483RYR1c.9656G>C (n.9656G>C)
c.9717G>C (p.Met3239Ile)
c.9714G>C (p.Met3238Ile)
c.3119G>C
c.524G>C
n.9750G>C
19g.38517390G>TCA405691486RYR1c.9656G>T (n.9656G>T)
c.9717G>T (p.Met3239Ile)
c.9714G>T (p.Met3238Ile)
c.3119G>T
c.524G>T
n.9750G>T
19g.38517391T>ACA405691489RYR1c.9657T>A (n.9657T>A)
c.9718T>A (p.Cys3240Ser)
c.9715T>A (p.Cys3239Ser)
c.3120T>A
c.525T>A
n.9751T>A
19g.38517391T>CCA308129692RYR1c.9657T>C (n.9657T>C)
c.9718T>C (p.Cys3240Arg)
c.9715T>C (p.Cys3239Arg)
c.3120T>C
c.525T>C
n.9751T>C
 ClinVar dbSNP gnomAD v4
19g.38517391T>GCA405691517RYR1c.9657T>G (n.9657T>G)
c.9718T>G (p.Cys3240Gly)
c.9715T>G (p.Cys3239Gly)
c.3120T>G
c.525T>G
n.9751T>G
19g.38517391T=CA2335062004RYR1c.9657T= (n.9657T=)
c.9718T= (p.Cys3240=)
c.9715T= (p.Cys3239=)
c.3120T=
c.525T=
n.9751T=
19g.38517392G>ACA405691521RYR1c.9658G>A (n.9658G>A)
c.9719G>A (p.Cys3240Tyr)
c.9716G>A (p.Cys3239Tyr)
c.3121G>A
c.526G>A
n.9752G>A
19g.38517392G>CCA405691526RYR1c.9658G>C (n.9658G>C)
c.9719G>C (p.Cys3240Ser)
c.9716G>C (p.Cys3239Ser)
c.3121G>C
c.526G>C
n.9752G>C
19g.38517392G>TCA405691541RYR1c.9658G>T (n.9658G>T)
c.9719G>T (p.Cys3240Phe)
c.9716G>T (p.Cys3239Phe)
c.3121G>T
c.526G>T
n.9752G>T
19g.38517393T>ACA405691547RYR1c.9659T>A (n.9659T>A)
c.9720T>A (p.Cys3240Ter)
c.9717T>A (p.Cys3239Ter)
c.3122T>A
c.527T>A
n.9753T>A
19g.38517393T>CCA507247093RYR1c.9659T>C (n.9659T>C)
c.9720T>C (p.Cys3240=)
c.9717T>C (p.Cys3239=)
c.3122T>C
c.527T>C
n.9753T>C
 COSMIC
19g.38517393T>GCA405691549RYR1c.9659T>G (n.9659T>G)
c.9720T>G (p.Cys3240Trp)
c.9717T>G (p.Cys3239Trp)
c.3122T>G
c.527T>G
n.9753T>G
19g.38517394C>ACA405691575RYR1c.9660C>A (n.9660C>A)
c.9721C>A (p.Pro3241Thr)
c.9718C>A (p.Pro3240Thr)
c.3123C>A
c.528C>A
n.9754C>A
19g.38517394C=CA2335062005RYR1c.9660C= (n.9660C=)
c.9721C= (p.Pro3241=)
c.9718C= (p.Pro3240=)
c.3123C=
c.528C=
n.9754C=
19g.38517394C>GCA405691571RYR1c.9660C>G (n.9660C>G)
c.9721C>G (p.Pro3241Ala)
c.9718C>G (p.Pro3240Ala)
c.3123C>G
c.528C>G
n.9754C>G
19g.38517394C>TCA074083RYR1c.9660C>T (n.9660C>T)
c.9721C>T (p.Pro3241Ser)
c.9718C>T (p.Pro3240Ser)
c.3123C>T
c.528C>T
n.9754C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38517396delCA507247094RYR1c.9662del (n.9662del)
c.9723del (p.Asp3242ThrfsTer?)
c.9720del (p.Asp3241ThrfsTer?)
c.3125del
c.530del
n.9756del
 COSMIC
19g.38517395C>ACA405691577RYR1c.9661C>A (n.9661C>A)
c.9722C>A (p.Pro3241His)
c.9719C>A (p.Pro3240His)
c.3124C>A
c.529C>A
n.9755C>A
19g.38517395C>GCA405691580RYR1c.9661C>G (n.9661C>G)
c.9722C>G (p.Pro3241Arg)
c.9719C>G (p.Pro3240Arg)
c.3124C>G
c.529C>G
n.9755C>G
19g.38517395C>TCA405691588RYR1c.9661C>T (n.9661C>T)
c.9722C>T (p.Pro3241Leu)
c.9719C>T (p.Pro3240Leu)
c.3124C>T
c.529C>T
n.9755C>T
 ClinVar gnomAD v4
19g.38517396C>ACA507247095RYR1c.9662C>A (n.9662C>A)
c.9723C>A (p.Pro3241=)
c.9720C>A (p.Pro3240=)
c.3125C>A
c.530C>A
n.9756C>A
19g.38517396C=CA2335062006RYR1c.9662C= (n.9662C=)
c.9723C= (p.Pro3241=)
c.9720C= (p.Pro3240=)
c.3125C=
c.530C=
n.9756C=
19g.38517396C>GCA507247096RYR1c.9662C>G (n.9662C>G)
c.9723C>G (p.Pro3241=)
c.9720C>G (p.Pro3240=)
c.3125C>G
c.530C>G
n.9756C>G
19g.38517396C>TCA025001RYR1c.9662C>T (n.9662C>T)
c.9723C>T (p.Pro3241=)
c.9720C>T (p.Pro3240=)
c.3125C>T
c.530C>T
n.9756C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517397G>ACA405691594RYR1c.9663G>A (n.9663G>A)
c.9724G>A (p.Asp3242Asn)
c.9721G>A (p.Asp3241Asn)
c.3126G>A
c.531G>A
n.9757G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38517397G>CCA405691598RYR1c.9663G>C (n.9663G>C)
c.9724G>C (p.Asp3242His)
c.9721G>C (p.Asp3241His)
c.3126G>C
c.531G>C
n.9757G>C
19g.38517397G=CA2335062007RYR1c.9663G= (n.9663G=)
c.9724G= (p.Asp3242=)
c.9721G= (p.Asp3241=)
c.3126G=
c.531G=
n.9757G=
19g.38517397G>TCA405691602RYR1c.9663G>T (n.9663G>T)
c.9724G>T (p.Asp3242Tyr)
c.9721G>T (p.Asp3241Tyr)
c.3126G>T
c.531G>T
n.9757G>T
 gnomAD v4
19g.38517398A>CCA405691612RYR1c.9664A>C (n.9664A>C)
c.9725A>C (p.Asp3242Ala)
c.9722A>C (p.Asp3241Ala)
c.3127A>C
c.532A>C
n.9758A>C
19g.38517398A>GCA405691605RYR1c.9664A>G (n.9664A>G)
c.9725A>G (p.Asp3242Gly)
c.9722A>G (p.Asp3241Gly)
c.3127A>G
c.532A>G
n.9758A>G
19g.38517398A>TCA405691609RYR1c.9664A>T (n.9664A>T)
c.9725A>T (p.Asp3242Val)
c.9722A>T (p.Asp3241Val)
c.3127A>T
c.532A>T
n.9758A>T
19g.38517399C>ACA405691615RYR1c.9665C>A (n.9665C>A)
c.9726C>A (p.Asp3242Glu)
c.9723C>A (p.Asp3241Glu)
c.3128C>A
c.533C>A
n.9759C>A
 dbSNP
19g.38517399C=CA2335062008RYR1c.9665C= (n.9665C=)
c.9726C= (p.Asp3242=)
c.9723C= (p.Asp3241=)
c.3128C=
c.533C=
n.9759C=
19g.38517399C>GCA405691617RYR1c.9665C>G (n.9665C>G)
c.9726C>G (p.Asp3242Glu)
c.9723C>G (p.Asp3241Glu)
c.3128C>G
c.533C>G
n.9759C>G
19g.38517399C>TCA084847RYR1c.9665C>T (n.9665C>T)
c.9726C>T (p.Asp3242=)
c.9723C>T (p.Asp3241=)
c.3128C>T
c.533C>T
n.9759C>T
 ClinVar dbSNP
19g.38517400A=CA2335062009RYR1c.9666A= (n.9666A=)
c.9727A= (p.Ile3243=)
c.9724A= (p.Ile3242=)
c.3129A=
c.534A=
n.9760A=
19g.38517400A>CCA405691619RYR1c.9666A>C (n.9666A>C)
c.9727A>C (p.Ile3243Leu)
c.9724A>C (p.Ile3242Leu)
c.3129A>C
c.534A>C
n.9760A>C
19g.38517400A>GCA074090RYR1c.9666A>G (n.9666A>G)
c.9727A>G (p.Ile3243Val)
c.9724A>G (p.Ile3242Val)
c.3129A>G
c.534A>G
n.9760A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517400A>TCA405691622RYR1c.9666A>T (n.9666A>T)
c.9727A>T (p.Ile3243Phe)
c.9724A>T (p.Ile3242Phe)
c.3129A>T
c.534A>T
n.9760A>T
19g.38517400_38517405delCA645612188RYR1c.9666_9671del (n.9666_9671del)
c.9727_9732del (p.Ile3243_Pro3244del)
c.9724_9729del (p.Ile3242_Pro3243del)
c.3129_3134del
c.534_539del
n.9760_9765del
 COSMIC
19g.38517401T>ACA405691628RYR1c.9667T>A (n.9667T>A)
c.9728T>A (p.Ile3243Asn)
c.9725T>A (p.Ile3242Asn)
c.3130T>A
c.535T>A
n.9761T>A
19g.38517401T>CCA405691641RYR1c.9667T>C (n.9667T>C)
c.9728T>C (p.Ile3243Thr)
c.9725T>C (p.Ile3242Thr)
c.3130T>C
c.535T>C
n.9761T>C
19g.38517401T>GCA405691630RYR1c.9667T>G (n.9667T>G)
c.9728T>G (p.Ile3243Ser)
c.9725T>G (p.Ile3242Ser)
c.3130T>G
c.535T>G
n.9761T>G
19g.38517401_38517402delinsTCCA2335062010RYR1c.9667_9668delinsTC (n.9667_9668delinsTC)
c.9728_9729delinsTC (p.Ile3243=)
c.9725_9726delinsTC (p.Ile3242=)
c.3130_3131delinsTC
c.535_536delinsTC
n.9761_9762delinsTC
19g.38517402C>ACA507247097RYR1c.9668C>A (n.9668C>A)
c.9729C>A (p.Ile3243=)
c.9726C>A (p.Ile3242=)
c.3131C>A
c.536C>A
n.9762C>A
 ClinVar dbSNP
19g.38517402C=CA2335062011RYR1c.9668C= (n.9668C=)
c.9729C= (p.Ile3243=)
c.9726C= (p.Ile3242=)
c.3131C=
c.536C=
n.9762C=
19g.38517402C>GCA405691645RYR1c.9668C>G (n.9668C>G)
c.9729C>G (p.Ile3243Met)
c.9726C>G (p.Ile3242Met)
c.3131C>G
c.536C>G
n.9762C>G
19g.38517402C>TCA507247098RYR1c.9668C>T (n.9668C>T)
c.9729C>T (p.Ile3243=)
c.9726C>T (p.Ile3242=)
c.3131C>T
c.536C>T
n.9762C>T
19g.38517404delCA882063086RYR1c.9670del (n.9670del)
c.9731del (p.Pro3244ArgfsTer?)
c.9728del (p.Pro3243ArgfsTer?)
c.3133del
c.538del
n.9764del
 dbSNP gnomAD v3 gnomAD v4
19g.38517403C>ACA405691655RYR1c.9669C>A (n.9669C>A)
c.9730C>A (p.Pro3244Thr)
c.9727C>A (p.Pro3243Thr)
c.3132C>A
c.537C>A
n.9763C>A
19g.38517403C>GCA405691658RYR1c.9669C>G (n.9669C>G)
c.9730C>G (p.Pro3244Ala)
c.9727C>G (p.Pro3243Ala)
c.3132C>G
c.537C>G
n.9763C>G
19g.38517403C>TCA405691662RYR1c.9669C>T (n.9669C>T)
c.9730C>T (p.Pro3244Ser)
c.9727C>T (p.Pro3243Ser)
c.3132C>T
c.537C>T
n.9763C>T
19g.38517404C>ACA405691665RYR1c.9670C>A (n.9670C>A)
c.9731C>A (p.Pro3244Gln)
c.9728C>A (p.Pro3243Gln)
c.3133C>A
c.538C>A
n.9764C>A
19g.38517404C=CA2335062012RYR1c.9670C= (n.9670C=)
c.9731C= (p.Pro3244=)
c.9728C= (p.Pro3243=)
c.3133C=
c.538C=
n.9764C=
19g.38517404C>GCA405691676RYR1c.9670C>G (n.9670C>G)
c.9731C>G (p.Pro3244Arg)
c.9728C>G (p.Pro3243Arg)
c.3133C>G
c.538C>G
n.9764C>G
19g.38517404C>TCA308129707RYR1c.9670C>T (n.9670C>T)
c.9731C>T (p.Pro3244Leu)
c.9728C>T (p.Pro3243Leu)
c.3133C>T
c.538C>T
n.9764C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38517405G>ACA074094RYR1c.9671G>A (n.9671G>A)
c.9732G>A (p.Pro3244=)
c.9729G>A (p.Pro3243=)
c.3134G>A
c.539G>A
n.9765G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38517405G>CCA507247100RYR1c.9671G>C (n.9671G>C)
c.9732G>C (p.Pro3244=)
c.9729G>C (p.Pro3243=)
c.3134G>C
c.539G>C
n.9765G>C
 gnomAD v4
19g.38517405G=CA2335062013RYR1c.9671G= (n.9671G=)
c.9732G= (p.Pro3244=)
c.9729G= (p.Pro3243=)
c.3134G=
c.539G=
n.9765G=
19g.38517405G>TCA507247099RYR1c.9671G>T (n.9671G>T)
c.9732G>T (p.Pro3244=)
c.9729G>T (p.Pro3243=)
c.3134G>T
c.539G>T
n.9765G>T
19g.38517406G>ACA074100RYR1c.9672G>A (n.9672G>A)
c.9733G>A (p.Val3245Met)
c.9730G>A (p.Val3244Met)
c.3135G>A
c.540G>A
n.9766G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38517406G>CCA405691697RYR1c.9672G>C (n.9672G>C)
c.9733G>C (p.Val3245Leu)
c.9730G>C (p.Val3244Leu)
c.3135G>C
c.540G>C
n.9766G>C
 gnomAD v4
19g.38517406G=CA2335062014RYR1c.9672G= (n.9672G=)
c.9733G= (p.Val3245=)
c.9730G= (p.Val3244=)
c.3135G=
c.540G=
n.9766G=
19g.38517406G>TCA405691709RYR1c.9672G>T (n.9672G>T)
c.9733G>T (p.Val3245Leu)
c.9730G>T (p.Val3244Leu)
c.3135G>T
c.540G>T
n.9766G>T
19g.38517407T>ACA405691722RYR1c.9673T>A (n.9673T>A)
c.9734T>A (p.Val3245Glu)
c.9731T>A (p.Val3244Glu)
c.3136T>A
c.541T>A
n.9767T>A
19g.38517407T>CCA405691715RYR1c.9673T>C (n.9673T>C)
c.9734T>C (p.Val3245Ala)
c.9731T>C (p.Val3244Ala)
c.3136T>C
c.541T>C
n.9767T>C
19g.38517407T>GCA405691717RYR1c.9673T>G (n.9673T>G)
c.9734T>G (p.Val3245Gly)
c.9731T>G (p.Val3244Gly)
c.3136T>G
c.541T>G
n.9767T>G
19g.38517408G>ACA084852RYR1c.9674G>A (n.9674G>A)
c.9735G>A (p.Val3245=)
c.9732G>A (p.Val3244=)
c.3137G>A
c.542G>A
n.9768G>A
 gnomAD v4
19g.38517408G>CCA507247101RYR1c.9674G>C (n.9674G>C)
c.9735G>C (p.Val3245=)
c.9732G>C (p.Val3244=)
c.3137G>C
c.542G>C
n.9768G>C
19g.38517408G>TCA507247102RYR1c.9674G>T (n.9674G>T)
c.9735G>T (p.Val3245=)
c.9732G>T (p.Val3244=)
c.3137G>T
c.542G>T
n.9768G>T
19g.38517409C>ACA405691724RYR1c.9675C>A (n.9675C>A)
c.9736C>A (p.Leu3246Met)
c.9733C>A (p.Leu3245Met)
c.3138C>A
c.543C>A
n.9769C>A
 dbSNP gnomAD v2
19g.38517409C=CA2335062015RYR1c.9675C= (n.9675C=)
c.9736C= (p.Leu3246=)
c.9733C= (p.Leu3245=)
c.3138C=
c.543C=
n.9769C=
19g.38517409C>GCA405691727RYR1c.9675C>G (n.9675C>G)
c.9736C>G (p.Leu3246Val)
c.9733C>G (p.Leu3245Val)
c.3138C>G
c.543C>G
n.9769C>G
19g.38517409C>TCA507247103RYR1c.9675C>T (n.9675C>T)
c.9736C>T (p.Leu3246=)
c.9733C>T (p.Leu3245=)
c.3138C>T
c.543C>T
n.9769C>T
19g.38517410T>ACA405691731RYR1c.9676T>A (n.9676T>A)
c.9737T>A (p.Leu3246Gln)
c.9734T>A (p.Leu3245Gln)
c.3139T>A
c.544T>A
n.9770T>A
19g.38517410T>CCA405691733RYR1c.9676T>C (n.9676T>C)
c.9737T>C (p.Leu3246Pro)
c.9734T>C (p.Leu3245Pro)
c.3139T>C
c.544T>C
n.9770T>C
19g.38517410T>GCA405691736RYR1c.9676T>G (n.9676T>G)
c.9737T>G (p.Leu3246Arg)
c.9734T>G (p.Leu3245Arg)
c.3139T>G
c.544T>G
n.9770T>G
19g.38517411G>ACA507247104RYR1c.9677G>A (n.9677G>A)
c.9738G>A (p.Leu3246=)
c.9735G>A (p.Leu3245=)
c.3140G>A
c.545G>A
n.9771G>A
 COSMIC
19g.38517411G>CCA507247105RYR1c.9677G>C (n.9677G>C)
c.9738G>C (p.Leu3246=)
c.9735G>C (p.Leu3245=)
c.3140G>C
c.545G>C
n.9771G>C
19g.38517411G>TCA507247106RYR1c.9677G>T (n.9677G>T)
c.9738G>T (p.Leu3246=)
c.9735G>T (p.Leu3245=)
c.3140G>T
c.545G>T
n.9771G>T
19g.38517412G>ACA405691739RYR1c.9678G>A (n.9678G>A)
c.9739G>A (p.Glu3247Lys)
c.9736G>A (p.Glu3246Lys)
c.3141G>A
c.546G>A
n.9772G>A
 gnomAD v4
19g.38517412G>CCA405691740RYR1c.9678G>C (n.9678G>C)
c.9739G>C (p.Glu3247Gln)
c.9736G>C (p.Glu3246Gln)
c.3141G>C
c.546G>C
n.9772G>C
19g.38517412G>TCA405691743RYR1c.9678G>T (n.9678G>T)
c.9739G>T (p.Glu3247Ter)
c.9736G>T (p.Glu3246Ter)
c.3141G>T
c.546G>T
n.9772G>T
19g.38517413A>CCA405691746RYR1c.9679A>C (n.9679A>C)
c.9740A>C (p.Glu3247Ala)
c.9737A>C (p.Glu3246Ala)
c.3142A>C
c.547A>C
n.9773A>C
19g.38517413A>GCA405691751RYR1c.9679A>G (n.9679A>G)
c.9740A>G (p.Glu3247Gly)
c.9737A>G (p.Glu3246Gly)
c.3142A>G
c.547A>G
n.9773A>G
19g.38517413A>TCA405691748RYR1c.9679A>T (n.9679A>T)
c.9740A>T (p.Glu3247Val)
c.9737A>T (p.Glu3246Val)
c.3142A>T
c.547A>T
n.9773A>T
19g.38517414G>ACA507247107RYR1c.9680G>A (n.9680G>A)
c.9741G>A (p.Glu3247=)
c.9738G>A (p.Glu3246=)
c.3143G>A
c.548G>A
n.9774G>A
 ClinVar gnomAD v4
19g.38517414G>CCA405691753RYR1c.9680G>C (n.9680G>C)
c.9741G>C (p.Glu3247Asp)
c.9738G>C (p.Glu3246Asp)
c.3143G>C
c.548G>C
n.9774G>C
19g.38517414G>TCA405691755RYR1c.9680G>T (n.9680G>T)
c.9741G>T (p.Glu3247Asp)
c.9738G>T (p.Glu3246Asp)
c.3143G>T
c.548G>T
n.9774G>T
19g.38517415C>ACA507247108RYR1c.9681C>A (n.9681C>A)
c.9742C>A (p.Arg3248=)
c.9739C>A (p.Arg3247=)
c.3144C>A
c.549C>A
n.9775C>A
 dbSNP gnomAD v2 gnomAD v4
19g.38517415C=CA2335062016RYR1c.9681C= (n.9681C=)
c.9742C= (p.Arg3248=)
c.9739C= (p.Arg3247=)
c.3144C=
c.549C=
n.9775C=
19g.38517415C>GCA405691756RYR1c.9681C>G (n.9681C>G)
c.9742C>G (p.Arg3248Gly)
c.9739C>G (p.Arg3247Gly)
c.3144C>G
c.549C>G
n.9775C>G
19g.38517415C>TCA074105RYR1c.9681C>T (n.9681C>T)
c.9742C>T (p.Arg3248Trp)
c.9739C>T (p.Arg3247Trp)
c.3144C>T
c.549C>T
n.9775C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517416G>ACA074107RYR1c.9682G>A (n.9682G>A)
c.9743G>A (p.Arg3248Gln)
c.9740G>A (p.Arg3247Gln)
c.3145G>A
c.550G>A
n.9776G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517416G>CCA405691764RYR1c.9682G>C (n.9682G>C)
c.9743G>C (p.Arg3248Pro)
c.9740G>C (p.Arg3247Pro)
c.3145G>C
c.550G>C
n.9776G>C
19g.38517416G=CA2335062017RYR1c.9682G= (n.9682G=)
c.9743G= (p.Arg3248=)
c.9740G= (p.Arg3247=)
c.3145G=
c.550G=
n.9776G=
19g.38517416G>TCA405691762RYR1c.9682G>T (n.9682G>T)
c.9743G>T (p.Arg3248Leu)
c.9740G>T (p.Arg3247Leu)
c.3145G>T
c.550G>T
n.9776G>T
19g.38517417G>ACA507247109RYR1c.9683G>A (n.9683G>A)
c.9744G>A (p.Arg3248=)
c.9741G>A (p.Arg3247=)
c.3146G>A
c.551G>A
n.9777G>A
19g.38517417G>CCA507247110RYR1c.9683G>C (n.9683G>C)
c.9744G>C (p.Arg3248=)
c.9741G>C (p.Arg3247=)
c.3146G>C
c.551G>C
n.9777G>C
19g.38517417G>TCA507247111RYR1c.9683G>T (n.9683G>T)
c.9744G>T (p.Arg3248=)
c.9741G>T (p.Arg3247=)
c.3146G>T
c.551G>T
n.9777G>T
19g.38517418C>ACA405691767RYR1c.9684C>A (n.9684C>A)
c.9745C>A (p.Leu3249Ile)
c.9742C>A (p.Leu3248Ile)
c.3147C>A
c.552C>A
n.9778C>A
 ClinVar
19g.38517418C=CA2335062018RYR1c.9684C= (n.9684C=)
c.9745C= (p.Leu3249=)
c.9742C= (p.Leu3248=)
c.3147C=
c.552C=
n.9778C=
19g.38517418C>GCA074112RYR1c.9684C>G (n.9684C>G)
c.9745C>G (p.Leu3249Val)
c.9742C>G (p.Leu3248Val)
c.3147C>G
c.552C>G
n.9778C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38517418C>TCA084857RYR1c.9684C>T (n.9684C>T)
c.9745C>T (p.Leu3249Phe)
c.9742C>T (p.Leu3248Phe)
c.3147C>T
c.552C>T
n.9778C>T
19g.38517419T>ACA405691773RYR1c.9685T>A (n.9685T>A)
c.9746T>A (p.Leu3249His)
c.9743T>A (p.Leu3248His)
c.3148T>A
c.553T>A
n.9779T>A
19g.38517419T>CCA405691776RYR1c.9685T>C (n.9685T>C)
c.9746T>C (p.Leu3249Pro)
c.9743T>C (p.Leu3248Pro)
c.3148T>C
c.553T>C
n.9779T>C
19g.38517419T>GCA405691780RYR1c.9685T>G (n.9685T>G)
c.9746T>G (p.Leu3249Arg)
c.9743T>G (p.Leu3248Arg)
c.3148T>G
c.553T>G
n.9779T>G
19g.38517420C>ACA507247112RYR1c.9686C>A (n.9686C>A)
c.9747C>A (p.Leu3249=)
c.9744C>A (p.Leu3248=)
c.3149C>A
c.554C>A
n.9780C>A
19g.38517420C>GCA507247113RYR1c.9686C>G (n.9686C>G)
c.9747C>G (p.Leu3249=)
c.9744C>G (p.Leu3248=)
c.3149C>G
c.554C>G
n.9780C>G
 ClinVar
19g.38517420C>TCA507247114RYR1c.9686C>T (n.9686C>T)
c.9747C>T (p.Leu3249=)
c.9744C>T (p.Leu3248=)
c.3149C>T
c.554C>T
n.9780C>T
19g.38517421A>CCA405691784RYR1c.9687A>C (n.9687A>C)
c.9748A>C (p.Met3250Leu)
c.9745A>C (p.Met3249Leu)
c.3150A>C
c.555A>C
n.9781A>C
 ClinVar
19g.38517421A>GCA405691791RYR1c.9687A>G (n.9687A>G)
c.9748A>G (p.Met3250Val)
c.9745A>G (p.Met3249Val)
c.3150A>G
c.555A>G
n.9781A>G
19g.38517421A>TCA405691793RYR1c.9687A>T (n.9687A>T)
c.9748A>T (p.Met3250Leu)
c.9745A>T (p.Met3249Leu)
c.3150A>T
c.555A>T
n.9781A>T
19g.38517422T>ACA405691796RYR1c.9688T>A (n.9688T>A)
c.9749T>A (p.Met3250Lys)
c.9746T>A (p.Met3249Lys)
c.3151T>A
c.556T>A
n.9782T>A
19g.38517422T>CCA405691803RYR1c.9688T>C (n.9688T>C)
c.9749T>C (p.Met3250Thr)
c.9746T>C (p.Met3249Thr)
c.3151T>C
c.556T>C
n.9782T>C
19g.38517422T>GCA405691804RYR1c.9688T>G (n.9688T>G)
c.9749T>G (p.Met3250Arg)
c.9746T>G (p.Met3249Arg)
c.3151T>G
c.556T>G
n.9782T>G
19g.38517423G>ACA405691808RYR1c.9689G>A (n.9689G>A)
c.9750G>A (p.Met3250Ile)
c.9747G>A (p.Met3249Ile)
c.3152G>A
c.557G>A
n.9783G>A
 gnomAD v4
19g.38517423G>CCA405691810RYR1c.9689G>C (n.9689G>C)
c.9750G>C (p.Met3250Ile)
c.9747G>C (p.Met3249Ile)
c.3152G>C
c.557G>C
n.9783G>C
19g.38517423G>TCA405691809RYR1c.9689G>T (n.9689G>T)
c.9750G>T (p.Met3250Ile)
c.9747G>T (p.Met3249Ile)
c.3152G>T
c.557G>T
n.9783G>T
19g.38517424G>ACA405691812RYR1c.9690G>A (n.9690G>A)
c.9751G>A (p.Ala3251Thr)
c.9748G>A (p.Ala3250Thr)
c.3153G>A
c.558G>A
n.9784G>A
19g.38517424G>CCA405691814RYR1c.9690G>C (n.9690G>C)
c.9751G>C (p.Ala3251Pro)
c.9748G>C (p.Ala3250Pro)
c.3153G>C
c.558G>C
n.9784G>C
19g.38517424G>TCA405691816RYR1c.9690G>T (n.9690G>T)
c.9751G>T (p.Ala3251Ser)
c.9748G>T (p.Ala3250Ser)
c.3153G>T
c.558G>T
n.9784G>T
19g.38517425C>ACA405691818RYR1c.9691C>A (n.9691C>A)
c.9752C>A (p.Ala3251Glu)
c.9749C>A (p.Ala3250Glu)
c.3154C>A
c.559C>A
n.9785C>A
19g.38517425C>GCA405691819RYR1c.9691C>G (n.9691C>G)
c.9752C>G (p.Ala3251Gly)
c.9749C>G (p.Ala3250Gly)
c.3154C>G
c.559C>G
n.9785C>G
 gnomAD v4
19g.38517425C>TCA405691826RYR1c.9691C>T (n.9691C>T)
c.9752C>T (p.Ala3251Val)
c.9749C>T (p.Ala3250Val)
c.3154C>T
c.559C>T
n.9785C>T
 ClinVar
19g.38517426A>CCA507247115RYR1c.9692A>C (n.9692A>C)
c.9753A>C (p.Ala3251=)
c.9750A>C (p.Ala3250=)
c.3155A>C
c.560A>C
n.9786A>C
19g.38517426A>GCA507247116RYR1c.9692A>G (n.9692A>G)
c.9753A>G (p.Ala3251=)
c.9750A>G (p.Ala3250=)
c.3155A>G
c.560A>G
n.9786A>G
19g.38517426A>TCA507247117RYR1c.9692A>T (n.9692A>T)
c.9753A>T (p.Ala3251=)
c.9750A>T (p.Ala3250=)
c.3155A>T
c.560A>T
n.9786A>T
19g.38517427G>ACA405691833RYR1c.9693G>A (n.9693G>A)
c.9754G>A (p.Asp3252Asn)
c.9751G>A (p.Asp3251Asn)
c.3156G>A
c.561G>A
n.9787G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38517427G>CCA405691829RYR1c.9693G>C (n.9693G>C)
c.9754G>C (p.Asp3252His)
c.9751G>C (p.Asp3251His)
c.3156G>C
c.561G>C
n.9787G>C
19g.38517427G=CA2335062019RYR1c.9693G= (n.9693G=)
c.9754G= (p.Asp3252=)
c.9751G= (p.Asp3251=)
c.3156G=
c.561G=
n.9787G=
19g.38517427G>TCA405691830RYR1c.9693G>T (n.9693G>T)
c.9754G>T (p.Asp3252Tyr)
c.9751G>T (p.Asp3251Tyr)
c.3156G>T
c.561G>T
n.9787G>T
19g.38517428A=CA2335062020RYR1c.9694A= (n.9694A=)
c.9755A= (p.Asp3252=)
c.9752A= (p.Asp3251=)
c.3157A=
c.562A=
n.9788A=
19g.38517428A>CCA405691837RYR1c.9694A>C (n.9694A>C)
c.9755A>C (p.Asp3252Ala)
c.9752A>C (p.Asp3251Ala)
c.3157A>C
c.562A>C
n.9788A>C
19g.38517428A>GCA405691841RYR1c.9694A>G (n.9694A>G)
c.9755A>G (p.Asp3252Gly)
c.9752A>G (p.Asp3251Gly)
c.3157A>G
c.562A>G
n.9788A>G
19g.38517428A>TCA405691844RYR1c.9694A>T (n.9694A>T)
c.9755A>T (p.Asp3252Val)
c.9752A>T (p.Asp3251Val)
c.3157A>T
c.562A>T
n.9788A>T
 dbSNP
19g.38517429C>ACA405691847RYR1c.9695C>A (n.9695C>A)
c.9756C>A (p.Asp3252Glu)
c.9753C>A (p.Asp3251Glu)
c.3158C>A
c.563C>A
n.9789C>A
19g.38517429C>GCA405691849RYR1c.9695C>G (n.9695C>G)
c.9756C>G (p.Asp3252Glu)
c.9753C>G (p.Asp3251Glu)
c.3158C>G
c.563C>G
n.9789C>G
19g.38517429C>TCA507247118RYR1c.9695C>T (n.9695C>T)
c.9756C>T (p.Asp3252=)
c.9753C>T (p.Asp3251=)
c.3158C>T
c.563C>T
n.9789C>T
19g.38517430A=CA2335062021RYR1c.9696A= (n.9696A=)
c.9757A= (p.Ile3253=)
c.9754A= (p.Ile3252=)
c.3159A=
c.564A=
19g.38517430A>CCA405691855RYR1c.9696A>C (n.9696A>C)
c.9757A>C (p.Ile3253Leu)
c.9754A>C (p.Ile3252Leu)
c.3159A>C
c.564A>C
19g.38517430A>GCA405691857RYR1c.9696A>G (n.9696A>G)
c.9757A>G (p.Ile3253Val)
c.9754A>G (p.Ile3252Val)
c.3159A>G
c.564A>G
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38517430A>TCA405691856RYR1c.9696A>T (n.9696A>T)
c.9757A>T (p.Ile3253Phe)
c.9754A>T (p.Ile3252Phe)
c.3159A>T
c.564A>T
 dbSNP
19g.38517431T>ACA405691858RYR1c.9697T>A (n.9697T>A)
c.9758T>A (p.Ile3253Asn)
c.9755T>A (p.Ile3252Asn)
c.3160T>A
c.565T>A
19g.38517431T>CCA025003RYR1c.9697T>C (n.9697T>C)
c.9758T>C (p.Ile3253Thr)
c.9755T>C (p.Ile3252Thr)
c.3160T>C
c.565T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517431T>GCA405691859RYR1c.9697T>G (n.9697T>G)
c.9758T>G (p.Ile3253Ser)
c.9755T>G (p.Ile3252Ser)
c.3160T>G
c.565T>G
19g.38517431T=CA2335062022RYR1c.9697T= (n.9697T=)
c.9758T= (p.Ile3253=)
c.9755T= (p.Ile3252=)
c.3160T=
c.565T=
19g.38517432T>ACA507247119RYR1c.9698T>A (n.9698T>A)
c.9759T>A (p.Ile3253=)
c.9756T>A (p.Ile3252=)
c.3161T>A
c.566T>A
19g.38517432T>CCA507247120RYR1c.9698T>C (n.9698T>C)
c.9759T>C (p.Ile3253=)
c.9756T>C (p.Ile3252=)
c.3161T>C
c.566T>C
 dbSNP gnomAD v4
19g.38517432T>GCA405691860RYR1c.9698T>G (n.9698T>G)
c.9759T>G (p.Ile3253Met)
c.9756T>G (p.Ile3252Met)
c.3161T>G
c.566T>G
19g.38517432_38517433delinsTGCA2335062023RYR1c.9698_9699delinsTG (n.9698_9699delinsTG)
c.9759_9760delinsTG (p.Ile3253=)
c.9756_9757delinsTG (p.Ile3252=)
c.3161_3162delinsTG
c.566_567delinsTG
19g.38517433G>ACA405691863RYR1c.9699G>A (n.9699G>A)
c.9760G>A (p.Gly3254Arg)
c.9757G>A (p.Gly3253Arg)
c.3162G>A
c.567G>A
 ClinVar COSMIC
19g.38517433G>CCA405691869RYR1c.9699G>C (n.9699G>C)
c.9760G>C (p.Gly3254Arg)
c.9757G>C (p.Gly3253Arg)
c.3162G>C
c.567G>C
19g.38517433G>TCA405691871RYR1c.9699G>T (n.9699G>T)
c.9760G>T (p.Gly3254Trp)
c.9757G>T (p.Gly3253Trp)
c.3162G>T
c.567G>T
19g.38517438dupCA645372290RYR1c.9704dup (n.9704dup)
c.9765dup (p.Leu3256AlafsTer?)
c.9762dup (p.Leu3255AlafsTer?)
c.3167dup
c.572dup
 dbSNP gnomAD v4
19g.38517438delCA633066705RYR1c.9704del (n.9704del)
c.9765del (p.Leu3256TrpfsTer?)
c.9762del (p.Leu3255TrpfsTer?)
c.3167del
c.572del
 dbSNP gnomAD v2
19g.38517434G>ACA405691874RYR1c.9700G>A (n.9700G>A)
c.9761G>A (p.Gly3254Glu)
c.9758G>A (p.Gly3253Glu)
c.3163G>A
c.568G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38517434G>CCA405691875RYR1c.9700G>C (n.9700G>C)
c.9761G>C (p.Gly3254Ala)
c.9758G>C (p.Gly3253Ala)
c.3163G>C
c.568G>C
 dbSNP gnomAD v2 gnomAD v4
19g.38517434G=CA2335062024RYR1c.9700G= (n.9700G=)
c.9761G= (p.Gly3254=)
c.9758G= (p.Gly3253=)
c.3163G=
c.568G=
19g.38517434G>TCA405691878RYR1c.9700G>T (n.9700G>T)
c.9761G>T (p.Gly3254Val)
c.9758G>T (p.Gly3253Val)
c.3163G>T
c.568G>T
 ClinVar
19g.38517435G>ACA507247123RYR1c.9701G>A (n.9701G>A)
c.9762G>A (p.Gly3254=)
c.9759G>A (p.Gly3253=)
c.3164G>A
c.569G>A
 gnomAD v4
19g.38517435G>CCA507247122RYR1c.9701G>C (n.9701G>C)
c.9762G>C (p.Gly3254=)
c.9759G>C (p.Gly3253=)
c.3164G>C
c.569G>C
19g.38517435G>TCA507247121RYR1c.9701G>T (n.9701G>T)
c.9762G>T (p.Gly3254=)
c.9759G>T (p.Gly3253=)
c.3164G>T
c.569G>T
19g.38517436G>ACA405691884RYR1c.9702G>A (n.9702G>A)
c.9763G>A (p.Gly3255Arg)
c.9760G>A (p.Gly3254Arg)
c.3165G>A
c.570G>A
 ClinVar
19g.38517436G>CCA405691887RYR1c.9702G>C (n.9702G>C)
c.9763G>C (p.Gly3255Arg)
c.9760G>C (p.Gly3254Arg)
c.3165G>C
c.570G>C
19g.38517436G>TCA405691885RYR1c.9702G>T (n.9702G>T)
c.9763G>T (p.Gly3255Trp)
c.9760G>T (p.Gly3254Trp)
c.3165G>T
c.570G>T
 ClinVar
19g.38517437G>ACA405691891RYR1c.9703G>A (n.9703G>A)
c.9764G>A (p.Gly3255Glu)
c.9761G>A (p.Gly3254Glu)
c.3166G>A
c.571G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38517437G>CCA405691896RYR1c.9703G>C (n.9703G>C)
c.9764G>C (p.Gly3255Ala)
c.9761G>C (p.Gly3254Ala)
c.3166G>C
c.571G>C
19g.38517437G=CA2335062025RYR1c.9703G= (n.9703G=)
c.9764G= (p.Gly3255=)
c.9761G= (p.Gly3254=)
c.3166G=
c.571G=
19g.38517437G>TCA405691893RYR1c.9703G>T (n.9703G>T)
c.9764G>T (p.Gly3255Val)
c.9761G>T (p.Gly3254Val)
c.3166G>T
c.571G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38517438G>ACA507247124RYR1c.9704G>A (n.9704G>A)
c.9765G>A (p.Gly3255=)
c.9762G>A (p.Gly3254=)
c.3167G>A
c.572G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38517438G>CCA507247125RYR1c.9704G>C (n.9704G>C)
c.9765G>C (p.Gly3255=)
c.9762G>C (p.Gly3254=)
c.3167G>C
c.572G>C
19g.38517438G=CA2335062026RYR1c.9704G= (n.9704G=)
c.9765G= (p.Gly3255=)
c.9762G= (p.Gly3254=)
c.3167G=
c.572G=
19g.38517438G>TCA507247126RYR1c.9704G>T (n.9704G>T)
c.9765G>T (p.Gly3255=)
c.9762G>T (p.Gly3254=)
c.3167G>T
c.572G>T
 COSMIC
19g.38517439C>ACA405691899RYR1c.9705C>A (n.9705C>A)
c.9766C>A (p.Leu3256Met)
c.9763C>A (p.Leu3255Met)
c.3168C>A
c.573C>A
19g.38517439C>GCA405691900RYR1c.9705C>G (n.9705C>G)
c.9766C>G (p.Leu3256Val)
c.9763C>G (p.Leu3255Val)
c.3168C>G
c.573C>G
19g.38517439C>TCA507247127RYR1c.9705C>T (n.9705C>T)
c.9766C>T (p.Leu3256=)
c.9763C>T (p.Leu3255=)
c.3168C>T
c.573C>T
19g.38517440T>ACA074123RYR1c.9706T>A (n.9706T>A)
c.9767T>A (p.Leu3256Gln)
c.9764T>A (p.Leu3255Gln)
c.3169T>A
c.574T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38517440T>CCA405691905RYR1c.9706T>C (n.9706T>C)
c.9767T>C (p.Leu3256Pro)
c.9764T>C (p.Leu3255Pro)
c.3169T>C
c.574T>C
19g.38517440T>GCA405691917RYR1c.9706T>G (n.9706T>G)
c.9767T>G (p.Leu3256Arg)
c.9764T>G (p.Leu3255Arg)
c.3169T>G
c.574T>G
19g.38517440T=CA2335062027RYR1c.9706T= (n.9706T=)
c.9767T= (p.Leu3256=)
c.9764T= (p.Leu3255=)
c.3169T=
c.574T=
19g.38517441G>ACA507247128RYR1c.9707G>A (n.9707G>A)
c.9768G>A (p.Leu3256=)
c.9765G>A (p.Leu3255=)
c.3170G>A
c.575G>A
19g.38517441G>CCA507247129RYR1c.9707G>C (n.9707G>C)
c.9768G>C (p.Leu3256=)
c.9765G>C (p.Leu3255=)
c.3170G>C
c.575G>C
19g.38517441G>TCA507247130RYR1c.9707G>T (n.9707G>T)
c.9768G>T (p.Leu3256=)
c.9765G>T (p.Leu3255=)
c.3170G>T
c.575G>T
19g.38517442G>ACA405691920RYR1c.9708G>A (n.9708G>A)
c.9769G>A (p.Ala3257Thr)
c.9766G>A (p.Ala3256Thr)
c.3171G>A
c.576G>A
19g.38517442G>CCA405691927RYR1c.9708G>C (n.9708G>C)
c.9769G>C (p.Ala3257Pro)
c.9766G>C (p.Ala3256Pro)
c.3171G>C
c.576G>C
 ClinVar
19g.38517442G>TCA405691929RYR1c.9708G>T (n.9708G>T)
c.9769G>T (p.Ala3257Ser)
c.9766G>T (p.Ala3256Ser)
c.3171G>T
c.576G>T
19g.38517443C>ACA405691930RYR1c.9709C>A (n.9709C>A)
c.9770C>A (p.Ala3257Asp)
c.9767C>A (p.Ala3256Asp)
c.3172C>A
c.577C>A
19g.38517443C>GCA405691932RYR1c.9709C>G (n.9709C>G)
c.9770C>G (p.Ala3257Gly)
c.9767C>G (p.Ala3256Gly)
c.3172C>G
c.577C>G
19g.38517443C>TCA405691936RYR1c.9709C>T (n.9709C>T)
c.9770C>T (p.Ala3257Val)
c.9767C>T (p.Ala3256Val)
c.3172C>T
c.577C>T
 gnomAD v4 COSMIC
19g.38517444C>ACA507247131RYR1c.9710C>A (n.9710C>A)
c.9771C>A (p.Ala3257=)
c.9768C>A (p.Ala3256=)
c.3173C>A
c.578C>A
19g.38517444C=CA2335062028RYR1c.9710C= (n.9710C=)
c.9771C= (p.Ala3257=)
c.9768C= (p.Ala3256=)
c.3173C=
c.578C=
19g.38517444C>GCA507247132RYR1c.9710C>G (n.9710C>G)
c.9771C>G (p.Ala3257=)
c.9768C>G (p.Ala3256=)
c.3173C>G
c.578C>G
19g.38517444C>TCA074125RYR1c.9710C>T (n.9710C>T)
c.9771C>T (p.Ala3257=)
c.9768C>T (p.Ala3256=)
c.3173C>T
c.578C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517445G>ACA074130RYR1c.9711G>A (n.9711G>A)
c.9772G>A (p.Glu3258Lys)
c.9769G>A (p.Glu3257Lys)
c.3174G>A
c.579G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517445G>CCA405691942RYR1c.9711G>C (n.9711G>C)
c.9772G>C (p.Glu3258Gln)
c.9769G>C (p.Glu3257Gln)
c.3174G>C
c.579G>C
 ClinVar dbSNP
19g.38517445G=CA2335062029RYR1c.9711G= (n.9711G=)
c.9772G= (p.Glu3258=)
c.9769G= (p.Glu3257=)
c.3174G=
c.579G=
19g.38517445G>TCA405691941RYR1c.9711G>T (n.9711G>T)
c.9772G>T (p.Glu3258Ter)
c.9769G>T (p.Glu3257Ter)
c.3174G>T
c.579G>T
19g.38517446A>CCA405691946RYR1c.9712A>C (n.9712A>C)
c.9773A>C (p.Glu3258Ala)
c.9770A>C (p.Glu3257Ala)
c.3175A>C
c.580A>C
19g.38517446A>GCA405691949RYR1c.9712A>G (n.9712A>G)
c.9773A>G (p.Glu3258Gly)
c.9770A>G (p.Glu3257Gly)
c.3175A>G
c.580A>G
19g.38517446A>TCA405691952RYR1c.9712A>T (n.9712A>T)
c.9773A>T (p.Glu3258Val)
c.9770A>T (p.Glu3257Val)
c.3175A>T
c.580A>T
19g.38517447G>ACA308129743RYR1c.9713G>A (n.9713G>A)
c.9774G>A (p.Glu3258=)
c.9771G>A (p.Glu3257=)
c.3176G>A
c.581G>A
 ClinVar dbSNP gnomAD v4
19g.38517447G>CCA405691956RYR1c.9713G>C (n.9713G>C)
c.9774G>C (p.Glu3258Asp)
c.9771G>C (p.Glu3257Asp)
c.3176G>C
c.581G>C
19g.38517447G=CA2335062030RYR1c.9713G= (n.9713G=)
c.9774G= (p.Glu3258=)
c.9771G= (p.Glu3257=)
c.3176G=
c.581G=
19g.38517447G>TCA405691958RYR1c.9713G>T (n.9713G>T)
c.9774G>T (p.Glu3258Asp)
c.9771G>T (p.Glu3257Asp)
c.3176G>T
c.581G>T
19g.38517448T>ACA405691961RYR1c.9714T>A (n.9714T>A)
c.9775T>A (p.Ser3259Thr)
c.9772T>A (p.Ser3258Thr)
c.3177T>A
c.582T>A
19g.38517448T>CCA405691965RYR1c.9714T>C (n.9714T>C)
c.9775T>C (p.Ser3259Pro)
c.9772T>C (p.Ser3258Pro)
c.3177T>C
c.582T>C
19g.38517448T>GCA074134RYR1c.9714T>G (n.9714T>G)
c.9775T>G (p.Ser3259Ala)
c.9772T>G (p.Ser3258Ala)
c.3177T>G
c.582T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38517448T=CA2335062031RYR1c.9714T= (n.9714T=)
c.9775T= (p.Ser3259=)
c.9772T= (p.Ser3258=)
c.3177T=
c.582T=
19g.38517449C>ACA405691968RYR1c.9715C>A (n.9715C>A)
c.9776C>A (p.Ser3259Ter)
c.9773C>A (p.Ser3258Ter)
c.3178C>A
c.583C>A
19g.38517449C>GCA405691972RYR1c.9715C>G (n.9715C>G)
c.9776C>G (p.Ser3259Ter)
c.9773C>G (p.Ser3258Ter)
c.3178C>G
c.583C>G
19g.38517449C>TCA405691973RYR1c.9715C>T (n.9715C>T)
c.9776C>T (p.Ser3259Leu)
c.9773C>T (p.Ser3258Leu)
c.3178C>T
c.583C>T
19g.38517450A=CA2335062032RYR1c.9716A= (n.9716A=)
c.9777A= (p.Ser3259=)
c.9774A= (p.Ser3258=)
c.3179A=
c.584A=
19g.38517450A>CCA507247135RYR1c.9716A>C (n.9716A>C)
c.9777A>C (p.Ser3259=)
c.9774A>C (p.Ser3258=)
c.3179A>C
c.584A>C
19g.38517450A>GCA507247134RYR1c.9716A>G (n.9716A>G)
c.9777A>G (p.Ser3259=)
c.9774A>G (p.Ser3258=)
c.3179A>G
c.584A>G
 ClinVar dbSNP
19g.38517450A>TCA507247133RYR1c.9716A>T (n.9716A>T)
c.9777A>T (p.Ser3259=)
c.9774A>T (p.Ser3258=)
c.3179A>T
c.584A>T
19g.38517451G>ACA405691975RYR1c.9717G>A (n.9717G>A)
c.9778G>A (p.Gly3260Ser)
c.9775G>A (p.Gly3259Ser)
c.3180G>A
c.585G>A
19g.38517451G>CCA405691978RYR1c.9717G>C (n.9717G>C)
c.9778G>C (p.Gly3260Arg)
c.9775G>C (p.Gly3259Arg)
c.3180G>C
c.585G>C
19g.38517451G>TCA405691974RYR1c.9717G>T (n.9717G>T)
c.9778G>T (p.Gly3260Cys)
c.9775G>T (p.Gly3259Cys)
c.3180G>T
c.585G>T
19g.38517452G>ACA405691985RYR1c.9718G>A (n.9718G>A)
c.9779G>A (p.Gly3260Asp)
c.9776G>A (p.Gly3259Asp)
c.3181G>A
c.586G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38517452G>CCA405691987RYR1c.9718G>C (n.9718G>C)
c.9779G>C (p.Gly3260Ala)
c.9776G>C (p.Gly3259Ala)
c.3181G>C
c.586G>C
19g.38517452G=CA2335062033RYR1c.9718G= (n.9718G=)
c.9779G= (p.Gly3260=)
c.9776G= (p.Gly3259=)
c.3181G=
c.586G=
19g.38517452G>TCA405691989RYR1c.9718G>T (n.9718G>T)
c.9779G>T (p.Gly3260Val)
c.9776G>T (p.Gly3259Val)
c.3181G>T
c.586G>T
19g.38517453T>ACA507247138RYR1c.9719T>A (n.9719T>A)
c.9780T>A (p.Gly3260=)
c.9777T>A (p.Gly3259=)
c.3182T>A
c.587T>A
19g.38517453T>CCA507247137RYR1c.9719T>C (n.9719T>C)
c.9780T>C (p.Gly3260=)
c.9777T>C (p.Gly3259=)
c.3182T>C
c.587T>C
19g.38517453T>GCA507247136RYR1c.9719T>G (n.9719T>G)
c.9780T>G (p.Gly3260=)
c.9777T>G (p.Gly3259=)
c.3182T>G
c.587T>G
 ClinVar
19g.38517454G>ACA405691992RYR1c.9720G>A (n.9720G>A)
c.9781G>A (p.Ala3261Thr)
c.9778G>A (p.Ala3260Thr)
c.3183G>A
c.588G>A
19g.38517454G>CCA405691993RYR1c.9720G>C (n.9720G>C)
c.9781G>C (p.Ala3261Pro)
c.9778G>C (p.Ala3260Pro)
c.3183G>C
c.588G>C
19g.38517454G>TCA405691995RYR1c.9720G>T (n.9720G>T)
c.9781G>T (p.Ala3261Ser)
c.9778G>T (p.Ala3260Ser)
c.3183G>T
c.588G>T
19g.38517455C>ACA405691999RYR1c.9721C>A (n.9721C>A)
c.9782C>A (p.Ala3261Asp)
c.9779C>A (p.Ala3260Asp)
c.3184C>A
c.589C>A
19g.38517455C>GCA405692000RYR1c.9721C>G (n.9721C>G)
c.9782C>G (p.Ala3261Gly)
c.9779C>G (p.Ala3260Gly)
c.3184C>G
c.589C>G
19g.38517455C>TCA405692001RYR1c.9721C>T (n.9721C>T)
c.9782C>T (p.Ala3261Val)
c.9779C>T (p.Ala3260Val)
c.3184C>T
c.589C>T
19g.38517456C>ACA507247139RYR1c.9722C>A (n.9722C>A)
c.9783C>A (p.Ala3261=)
c.9780C>A (p.Ala3260=)
c.3185C>A
c.590C>A
19g.38517456C=CA2335062034RYR1c.9722C= (n.9722C=)
c.9783C= (p.Ala3261=)
c.9780C= (p.Ala3260=)
c.3185C=
c.590C=
19g.38517456C>GCA507247141RYR1c.9722C>G (n.9722C>G)
c.9783C>G (p.Ala3261=)
c.9780C>G (p.Ala3260=)
c.3185C>G
c.590C>G
19g.38517456C>TCA507247140RYR1c.9722C>T (n.9722C>T)
c.9783C>T (p.Ala3261=)
c.9780C>T (p.Ala3260=)
c.3185C>T
c.590C>T
 dbSNP
19g.38517457C>ACA405692002RYR1c.9723C>A (n.9723C>A)
c.9784C>A (p.Arg3262Ser)
c.9781C>A (p.Arg3261Ser)
c.3186C>A
c.591C>A
19g.38517457C=CA2335062035RYR1c.9723C= (n.9723C=)
c.9784C= (p.Arg3262=)
c.9781C= (p.Arg3261=)
c.3186C=
c.591C=
19g.38517457C>GCA405692003RYR1c.9723C>G (n.9723C>G)
c.9784C>G (p.Arg3262Gly)
c.9781C>G (p.Arg3261Gly)
c.3186C>G
c.591C>G
19g.38517457C>TCA074141RYR1c.9723C>T (n.9723C>T)
c.9784C>T (p.Arg3262Cys)
c.9781C>T (p.Arg3261Cys)
c.3186C>T
c.591C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517458G>ACA074146RYR1c.9724G>A (n.9724G>A)
c.9785G>A (p.Arg3262His)
c.9782G>A (p.Arg3261His)
c.3187G>A
c.592G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517458G>CCA074149RYR1c.9724G>C (n.9724G>C)
c.9785G>C (p.Arg3262Pro)
c.9782G>C (p.Arg3261Pro)
c.3187G>C
c.592G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38517458G=CA2335062036RYR1c.9724G= (n.9724G=)
c.9785G= (p.Arg3262=)
c.9782G= (p.Arg3261=)
c.3187G=
c.592G=
19g.38517458G>TCA405692004RYR1c.9724G>T (n.9724G>T)
c.9785G>T (p.Arg3262Leu)
c.9782G>T (p.Arg3261Leu)
c.3187G>T
c.592G>T
19g.38517459C>ACA507247142RYR1c.9725C>A (n.9725C>A)
c.9786C>A (p.Arg3262=)
c.9783C>A (p.Arg3261=)
c.3188C>A
c.593C>A
19g.38517459C>GCA507247143RYR1c.9725C>G (n.9725C>G)
c.9786C>G (p.Arg3262=)
c.9783C>G (p.Arg3261=)
c.3188C>G
c.593C>G
19g.38517459C>TCA507247144RYR1c.9725C>T (n.9725C>T)
c.9786C>T (p.Arg3262=)
c.9783C>T (p.Arg3261=)
c.3188C>T
c.593C>T
19g.38517460T>ACA405692009RYR1c.9726T>A (n.9726T>A)
c.9787T>A (p.Tyr3263Asn)
c.9784T>A (p.Tyr3262Asn)
c.3189T>A
c.594T>A
 dbSNP gnomAD v3 gnomAD v4
19g.38517460T>CCA405692010RYR1c.9726T>C (n.9726T>C)
c.9787T>C (p.Tyr3263His)
c.9784T>C (p.Tyr3262His)
c.3189T>C
c.594T>C
19g.38517460T>GCA405692011RYR1c.9726T>G (n.9726T>G)
c.9787T>G (p.Tyr3263Asp)
c.9784T>G (p.Tyr3262Asp)
c.3189T>G
c.594T>G
19g.38517460T=CA2335062037RYR1c.9726T= (n.9726T=)
c.9787T= (p.Tyr3263=)
c.9784T= (p.Tyr3262=)
c.3189T=
c.594T=
19g.38517461A>CCA405692013RYR1c.9727A>C (n.9727A>C)
c.9788A>C (p.Tyr3263Ser)
c.9785A>C (p.Tyr3262Ser)
c.3190A>C
c.595A>C
19g.38517461A>GCA405692015RYR1c.9727A>G (n.9727A>G)
c.9788A>G (p.Tyr3263Cys)
c.9785A>G (p.Tyr3262Cys)
c.3190A>G
c.595A>G
19g.38517461A>TCA405692016RYR1c.9727A>T (n.9727A>T)
c.9788A>T (p.Tyr3263Phe)
c.9785A>T (p.Tyr3262Phe)
c.3190A>T
c.595A>T
19g.38517462C>ACA405692018RYR1c.9728C>A (n.9728C>A)
c.9789C>A (p.Tyr3263Ter)
c.9786C>A (p.Tyr3262Ter)
c.3191C>A
c.596C>A
19g.38517462C=CA2335062038RYR1c.9728C= (n.9728C=)
c.9789C= (p.Tyr3263=)
c.9786C= (p.Tyr3262=)
c.3191C=
c.596C=
19g.38517462C>GCA405692020RYR1c.9728C>G (n.9728C>G)
c.9789C>G (p.Tyr3263Ter)
c.9786C>G (p.Tyr3262Ter)
c.3191C>G
c.596C>G
19g.38517462C>TCA074153RYR1c.9728C>T (n.9728C>T)
c.9789C>T (p.Tyr3263=)
c.9786C>T (p.Tyr3262=)
c.3191C>T
c.596C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517463A=CA2335062039RYR1c.9729A= (n.9729A=)
c.9790A= (p.Thr3264=)
c.9787A= (p.Thr3263=)
c.3192A=
c.597A=
19g.38517463A>CCA405692033RYR1c.9729A>C (n.9729A>C)
c.9790A>C (p.Thr3264Pro)
c.9787A>C (p.Thr3263Pro)
c.3192A>C
c.597A>C
 dbSNP
19g.38517463A>GCA405692035RYR1c.9729A>G (n.9729A>G)
c.9790A>G (p.Thr3264Ala)
c.9787A>G (p.Thr3263Ala)
c.3192A>G
c.597A>G
 dbSNP gnomAD v2 gnomAD v4
19g.38517463A>TCA405692036RYR1c.9729A>T (n.9729A>T)
c.9790A>T (p.Thr3264Ser)
c.9787A>T (p.Thr3263Ser)
c.3192A>T
c.597A>T
19g.38517464C>ACA405692041RYR1c.9730C>A (n.9730C>A)
c.9791C>A (p.Thr3264Lys)
c.9788C>A (p.Thr3263Lys)
c.3193C>A
c.598C>A
19g.38517464C>GCA405692044RYR1c.9730C>G (n.9730C>G)
c.9791C>G (p.Thr3264Arg)
c.9788C>G (p.Thr3263Arg)
c.3193C>G
c.598C>G
 gnomAD v4
19g.38517464C>TCA405692038RYR1c.9730C>T (n.9730C>T)
c.9791C>T (p.Thr3264Ile)
c.9788C>T (p.Thr3263Ile)
c.3193C>T
c.598C>T
 ClinVar
19g.38517465A>CCA507247145RYR1c.9731A>C (n.9731A>C)
c.9792A>C (p.Thr3264=)
c.9789A>C (p.Thr3263=)
c.3194A>C
c.599A>C
19g.38517465A>GCA507247146RYR1c.9731A>G (n.9731A>G)
c.9792A>G (p.Thr3264=)
c.9789A>G (p.Thr3263=)
c.3194A>G
c.599A>G
 gnomAD v4
19g.38517465A>TCA507247147RYR1c.9731A>T (n.9731A>T)
c.9792A>T (p.Thr3264=)
c.9789A>T (p.Thr3263=)
c.3194A>T
c.599A>T
19g.38517466G>ACA405692051RYR1c.9732G>A (n.9732G>A)
c.9793G>A (p.Glu3265Lys)
c.9790G>A (p.Glu3264Lys)
c.3195G>A
c.600G>A
19g.38517466G>CCA405692048RYR1c.9732G>C (n.9732G>C)
c.9793G>C (p.Glu3265Gln)
c.9790G>C (p.Glu3264Gln)
c.3195G>C
c.600G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38517466G=CA2335062040RYR1c.9732G= (n.9732G=)
c.9793G= (p.Glu3265=)
c.9790G= (p.Glu3264=)
c.3195G=
c.600G=
19g.38517466G>TCA405692050RYR1c.9732G>T (n.9732G>T)
c.9793G>T (p.Glu3265Ter)
c.9790G>T (p.Glu3264Ter)
c.3195G>T
c.600G>T
19g.38517467A>CCA405692053RYR1c.9733A>C (n.9733A>C)
c.9794A>C (p.Glu3265Ala)
c.9791A>C (p.Glu3264Ala)
c.3196A>C
c.601A>C
19g.38517467A>GCA405692056RYR1c.9733A>G (n.9733A>G)
c.9794A>G (p.Glu3265Gly)
c.9791A>G (p.Glu3264Gly)
c.3196A>G
c.601A>G
19g.38517467A>TCA405692058RYR1c.9733A>T (n.9733A>T)
c.9794A>T (p.Glu3265Val)
c.9791A>T (p.Glu3264Val)
c.3196A>T
c.601A>T
19g.38517468G>ACA507247148RYR1c.9734G>A (n.9734G>A)
c.9795G>A (p.Glu3265=)
c.9792G>A (p.Glu3264=)
c.3197G>A
c.602G>A
 COSMIC
19g.38517468G>CCA405692060RYR1c.9734G>C (n.9734G>C)
c.9795G>C (p.Glu3265Asp)
c.9792G>C (p.Glu3264Asp)
c.3197G>C
c.602G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38517468G=CA2335062041RYR1c.9734G= (n.9734G=)
c.9795G= (p.Glu3265=)
c.9792G= (p.Glu3264=)
c.3197G=
c.602G=
19g.38517468G>TCA405692061RYR1c.9734G>T (n.9734G>T)
c.9795G>T (p.Glu3265Asp)
c.9792G>T (p.Glu3264Asp)
c.3197G>T
c.602G>T
19g.38517469A=CA2335062042RYR1c.9735A= (n.9735A=)
c.9796A= (p.Met3266=)
c.9793A= (p.Met3265=)
c.3198A=
c.603A=
19g.38517469A>CCA074157RYR1c.9735A>C (n.9735A>C)
c.9796A>C (p.Met3266Leu)
c.9793A>C (p.Met3265Leu)
c.3198A>C
c.603A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517469A>GCA405692062RYR1c.9735A>G (n.9735A>G)
c.9796A>G (p.Met3266Val)
c.9793A>G (p.Met3265Val)
c.3198A>G
c.603A>G
19g.38517469A>TCA405692064RYR1c.9735A>T (n.9735A>T)
c.9796A>T (p.Met3266Leu)
c.9793A>T (p.Met3265Leu)
c.3198A>T
c.603A>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38517470T>ACA405692066RYR1c.9736T>A (n.9736T>A)
c.9797T>A (p.Met3266Lys)
c.9794T>A (p.Met3265Lys)
c.3199T>A
c.604T>A
19g.38517470T>CCA405692068RYR1c.9736T>C (n.9736T>C)
c.9797T>C (p.Met3266Thr)
c.9794T>C (p.Met3265Thr)
c.3199T>C
c.604T>C
 ClinVar dbSNP gnomAD v4
19g.38517470T>GCA405692069RYR1c.9736T>G (n.9736T>G)
c.9797T>G (p.Met3266Arg)
c.9794T>G (p.Met3265Arg)
c.3199T>G
c.604T>G
19g.38517471G>ACA074161RYR1c.9737G>A (n.9737G>A)
c.9798G>A (p.Met3266Ile)
c.9795G>A (p.Met3265Ile)
c.3200G>A
c.605G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517471G>CCA405692070RYR1c.9737G>C (n.9737G>C)
c.9798G>C (p.Met3266Ile)
c.9795G>C (p.Met3265Ile)
c.3200G>C
c.605G>C
19g.38517471G=CA2335062043RYR1c.9737G= (n.9737G=)
c.9798G= (p.Met3266=)
c.9795G= (p.Met3265=)
c.3200G=
c.605G=
19g.38517471G>TCA405692072RYR1c.9737G>T (n.9737G>T)
c.9798G>T (p.Met3266Ile)
c.9795G>T (p.Met3265Ile)
c.3200G>T
c.605G>T
19g.38517472C>ACA405692075RYR1c.9738C>A (n.9738C>A)
c.9799C>A (p.Pro3267Thr)
c.9796C>A (p.Pro3266Thr)
c.3201C>A
c.606C>A
19g.38517472C>GCA405692077RYR1c.9738C>G (n.9738C>G)
c.9799C>G (p.Pro3267Ala)
c.9796C>G (p.Pro3266Ala)
c.3201C>G
c.606C>G
19g.38517472C>TCA405692079RYR1c.9738C>T (n.9738C>T)
c.9799C>T (p.Pro3267Ser)
c.9796C>T (p.Pro3266Ser)
c.3201C>T
c.606C>T
19g.38517473C>ACA405692080RYR1c.9739C>A (n.9739C>A)
c.9800C>A (p.Pro3267Gln)
c.9797C>A (p.Pro3266Gln)
c.3202C>A
c.607C>A
19g.38517473C=CA2335062044RYR1c.9739C= (n.9739C=)
c.9800C= (p.Pro3267=)
c.9797C= (p.Pro3266=)
c.3202C=
c.607C=
19g.38517473C>GCA405692082RYR1c.9739C>G (n.9739C>G)
c.9800C>G (p.Pro3267Arg)
c.9797C>G (p.Pro3266Arg)
c.3202C>G
c.607C>G
19g.38517473C>TCA074165RYR1c.9739C>T (n.9739C>T)
c.9800C>T (p.Pro3267Leu)
c.9797C>T (p.Pro3266Leu)
c.3202C>T
c.607C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517474G>ACA074167RYR1c.9740G>A (n.9740G>A)
c.9801G>A (p.Pro3267=)
c.9798G>A (p.Pro3266=)
c.3203G>A
c.608G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38517474G>CCA507247149RYR1c.9740G>C (n.9740G>C)
c.9801G>C (p.Pro3267=)
c.9798G>C (p.Pro3266=)
c.3203G>C
c.608G>C
19g.38517474G=CA2335062045RYR1c.9740G= (n.9740G=)
c.9801G= (p.Pro3267=)
c.9798G= (p.Pro3266=)
c.3203G=
c.608G=
19g.38517474G>TCA507247150RYR1c.9740G>T (n.9740G>T)
c.9801G>T (p.Pro3267=)
c.9798G>T (p.Pro3266=)
c.3203G>T
c.608G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38517475C>ACA405692083RYR1c.9741C>A (n.9741C>A)
c.9802C>A (p.His3268Asn)
c.9799C>A (p.His3267Asn)
c.3204C>A
c.609C>A
19g.38517475C>GCA405692084RYR1c.9741C>G (n.9741C>G)
c.9802C>G (p.His3268Asp)
c.9799C>G (p.His3267Asp)
c.3204C>G
c.609C>G
19g.38517475C>TCA405692087RYR1c.9741C>T (n.9741C>T)
c.9802C>T (p.His3268Tyr)
c.9799C>T (p.His3267Tyr)
c.3204C>T
c.609C>T
19g.38517476A=CA2335062046RYR1c.9742A= (n.9742A=)
c.9803A= (p.His3268=)
c.9800A= (p.His3267=)
c.3205A=
c.610A=
19g.38517476A>CCA405692088RYR1c.9742A>C (n.9742A>C)
c.9803A>C (p.His3268Pro)
c.9800A>C (p.His3267Pro)
c.3205A>C
c.610A>C
19g.38517476A>GCA074170RYR1c.9742A>G (n.9742A>G)
c.9803A>G (p.His3268Arg)
c.9800A>G (p.His3267Arg)
c.3205A>G
c.610A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38517476A>TCA405692089RYR1c.9742A>T (n.9742A>T)
c.9803A>T (p.His3268Leu)
c.9800A>T (p.His3267Leu)
c.3205A>T
c.610A>T
19g.38517477T>ACA405692091RYR1c.9743T>A (n.9743T>A)
c.9804T>A (p.His3268Gln)
c.9801T>A (p.His3267Gln)
c.3206T>A
c.611T>A
19g.38517477T>CCA308129777RYR1c.9743T>C (n.9743T>C)
c.9804T>C (p.His3268=)
c.9801T>C (p.His3267=)
c.3206T>C
c.611T>C
 dbSNP
19g.38517477T>GCA405692092RYR1c.9743T>G (n.9743T>G)
c.9804T>G (p.His3268Gln)
c.9801T>G (p.His3267Gln)
c.3206T>G
c.611T>G
19g.38517477T=CA2335062047RYR1c.9743T= (n.9743T=)
c.9804T= (p.His3268=)
c.9801T= (p.His3267=)
c.3206T=
c.611T=
19g.38517478G>ACA405692093RYR1c.9744G>A (n.9744G>A)
c.9805G>A (p.Val3269Ile)
c.9802G>A (p.Val3268Ile)
c.3207G>A
c.612G>A
19g.38517478G>CCA405692095RYR1c.9744G>C (n.9744G>C)
c.9805G>C (p.Val3269Leu)
c.9802G>C (p.Val3268Leu)
c.3207G>C
c.612G>C
 gnomAD v4
19g.38517478G>TCA405692096RYR1c.9744G>T (n.9744G>T)
c.9805G>T (p.Val3269Phe)
c.9802G>T (p.Val3268Phe)
c.3207G>T
c.612G>T
19g.38517479T>ACA405692097RYR1c.9745T>A (n.9745T>A)
c.9806T>A (p.Val3269Asp)
c.9803T>A (p.Val3268Asp)
c.3208T>A
c.613T>A
19g.38517479T>CCA405692098RYR1c.9745T>C (n.9745T>C)
c.9806T>C (p.Val3269Ala)
c.9803T>C (p.Val3268Ala)
c.3208T>C
c.613T>C
19g.38517479T>GCA405692100RYR1c.9745T>G (n.9745T>G)
c.9806T>G (p.Val3269Gly)
c.9803T>G (p.Val3268Gly)
c.3208T>G
c.613T>G
19g.38517480C>ACA507247151RYR1c.9746C>A (n.9746C>A)
c.9807C>A (p.Val3269=)
c.9804C>A (p.Val3268=)
c.3209C>A
c.614C>A
19g.38517480C>GCA507247152RYR1c.9746C>G (n.9746C>G)
c.9807C>G (p.Val3269=)
c.9804C>G (p.Val3268=)
c.3209C>G
c.614C>G
19g.38517480C>TCA507247153RYR1c.9746C>T (n.9746C>T)
c.9807C>T (p.Val3269=)
c.9804C>T (p.Val3268=)
c.3209C>T
c.614C>T
 gnomAD v4

Number of alleles fetched