Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.237377296A=CA2487310746RYR2c.464-27A= (n.464-27A=)
c.416-27A= (n.416-27A=)
n.745-27A=
c.443-27A= (n.443-27A=)
n.778-27A=
1g.237377296A>GCA2487310747RYR2c.464-27A>G (n.464-27A>G)
c.416-27A>G (n.416-27A>G)
n.745-27A>G
c.443-27A>G (n.443-27A>G)
n.778-27A>G
 dbSNP gnomAD v4
1g.237377297T>CCA2574455259RYR2c.464-26T>C (n.464-26T>C)
c.416-26T>C (n.416-26T>C)
n.745-26T>C
c.443-26T>C (n.443-26T>C)
n.778-26T>C
 gnomAD v4
1g.237377299T>CCA529529395RYR2c.464-24T>C (n.464-24T>C)
c.416-24T>C (n.416-24T>C)
n.745-24T>C
c.443-24T>C (n.443-24T>C)
n.778-24T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237377299T>GCA086675RYR2c.464-24T>G (n.464-24T>G)
c.416-24T>G (n.416-24T>G)
n.745-24T>G
c.443-24T>G (n.443-24T>G)
n.778-24T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.237377299T=CA2487310748RYR2c.464-24T= (n.464-24T=)
c.416-24T= (n.416-24T=)
n.745-24T=
c.443-24T= (n.443-24T=)
n.778-24T=
1g.237377300T>GCA2651197407RYR2c.464-23T>G (n.464-23T>G)
c.416-23T>G (n.416-23T>G)
n.745-23T>G
c.443-23T>G (n.443-23T>G)
n.778-23T>G
 gnomAD v4
1g.237377301T>CCA2651197408RYR2c.464-22T>C (n.464-22T>C)
c.416-22T>C (n.416-22T>C)
n.745-22T>C
c.443-22T>C (n.443-22T>C)
n.778-22T>C
 gnomAD v4
1g.237377302C>ACA2651197409RYR2c.464-21C>A (n.464-21C>A)
c.416-21C>A (n.416-21C>A)
n.745-21C>A
c.443-21C>A (n.443-21C>A)
n.778-21C>A
 gnomAD v4
1g.237377302C>GCA2574455264RYR2c.464-21C>G (n.464-21C>G)
c.416-21C>G (n.416-21C>G)
n.745-21C>G
c.443-21C>G (n.443-21C>G)
n.778-21C>G
1g.237377302C>TCA2651197410RYR2c.464-21C>T (n.464-21C>T)
c.416-21C>T (n.416-21C>T)
n.745-21C>T
c.443-21C>T (n.443-21C>T)
n.778-21C>T
 gnomAD v4
1g.237377304C>ACA2651197411RYR2c.464-19C>A (n.464-19C>A)
c.416-19C>A (n.416-19C>A)
n.745-19C>A
c.443-19C>A (n.443-19C>A)
n.778-19C>A
 gnomAD v4
1g.237377304C>TCA2651197412RYR2c.464-19C>T (n.464-19C>T)
c.416-19C>T (n.416-19C>T)
n.745-19C>T
c.443-19C>T (n.443-19C>T)
n.778-19C>T
 gnomAD v4
1g.237377305A=CA2487310749RYR2c.464-18A= (n.464-18A=)
c.416-18A= (n.416-18A=)
n.745-18A=
c.443-18A= (n.443-18A=)
n.778-18A=
1g.237377305A>CCA2651197413RYR2c.464-18A>C (n.464-18A>C)
c.416-18A>C (n.416-18A>C)
n.745-18A>C
c.443-18A>C (n.443-18A>C)
n.778-18A>C
 gnomAD v4
1g.237377305A>GCA086674RYR2c.464-18A>G (n.464-18A>G)
c.416-18A>G (n.416-18A>G)
n.745-18A>G
c.443-18A>G (n.443-18A>G)
n.778-18A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.237377306T>CCA733264196RYR2c.464-17T>C (n.464-17T>C)
c.416-17T>C (n.416-17T>C)
n.745-17T>C
c.443-17T>C (n.443-17T>C)
n.778-17T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.237377306T>GCA2651197414RYR2c.464-17T>G (n.464-17T>G)
c.416-17T>G (n.416-17T>G)
n.745-17T>G
c.443-17T>G (n.443-17T>G)
n.778-17T>G
 gnomAD v4
1g.237377306T=CA2487310750RYR2c.464-17T= (n.464-17T=)
c.416-17T= (n.416-17T=)
n.745-17T=
c.443-17T= (n.443-17T=)
n.778-17T=
1g.237377307A>GCA2651197415RYR2c.464-16A>G (n.464-16A>G)
c.416-16A>G (n.416-16A>G)
n.745-16A>G
c.443-16A>G (n.443-16A>G)
n.778-16A>G
 gnomAD v4
1g.237377308T>CCA2651197416RYR2c.464-15T>C (n.464-15T>C)
c.416-15T>C (n.416-15T>C)
n.745-15T>C
c.443-15T>C (n.443-15T>C)
n.778-15T>C
 gnomAD v4
1g.237377309C>ACA2651197417RYR2c.464-14C>A (n.464-14C>A)
c.416-14C>A (n.416-14C>A)
n.745-14C>A
c.443-14C>A (n.443-14C>A)
n.778-14C>A
 gnomAD v4
1g.237377310C>ACA2651197418RYR2c.464-13C>A (n.464-13C>A)
c.416-13C>A (n.416-13C>A)
n.745-13C>A
c.443-13C>A (n.443-13C>A)
n.778-13C>A
 gnomAD v4
1g.237377310C=CA1143874333RYR2c.464-13C= (n.464-13C=)
c.416-13C= (n.416-13C=)
n.745-13C=
c.443-13C= (n.443-13C=)
n.778-13C=
1g.237377310C>TCA086673RYR2c.464-13C>T (n.464-13C>T)
c.416-13C>T (n.416-13C>T)
n.745-13C>T
c.443-13C>T (n.443-13C>T)
n.778-13C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237377311G>ACA086672RYR2c.464-12G>A (n.464-12G>A)
c.416-12G>A (n.416-12G>A)
n.745-12G>A
c.443-12G>A (n.443-12G>A)
n.778-12G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237377311G>CCA658795628RYR2c.464-12G>C (n.464-12G>C)
c.416-12G>C (n.416-12G>C)
n.745-12G>C
c.443-12G>C (n.443-12G>C)
n.778-12G>C
 ClinVar dbSNP
1g.237377311G=CA2487310751RYR2c.464-12G= (n.464-12G=)
c.416-12G= (n.416-12G=)
n.745-12G=
c.443-12G= (n.443-12G=)
n.778-12G=
1g.237377311G>TCA913187562RYR2c.464-12G>T (n.464-12G>T)
c.416-12G>T (n.416-12G>T)
n.745-12G>T
c.443-12G>T (n.443-12G>T)
n.778-12G>T
 ClinVar dbSNP
1g.237377312T>CCA2487310753RYR2c.464-11T>C (n.464-11T>C)
c.416-11T>C (n.416-11T>C)
n.745-11T>C
c.443-11T>C (n.443-11T>C)
n.778-11T>C
 dbSNP gnomAD v4
1g.237377312T=CA2487310752RYR2c.464-11T= (n.464-11T=)
c.416-11T= (n.416-11T=)
n.745-11T=
c.443-11T= (n.443-11T=)
n.778-11T=
1g.237377313A=CA2487310754RYR2c.464-10A= (n.464-10A=)
c.416-10A= (n.416-10A=)
n.745-10A=
c.443-10A= (n.443-10A=)
n.778-10A=
1g.237377313A>GCA529529415RYR2c.464-10A>G (n.464-10A>G)
c.416-10A>G (n.416-10A>G)
n.745-10A>G
c.443-10A>G (n.443-10A>G)
n.778-10A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.237377314T>CCA086677RYR2c.464-9T>C (n.464-9T>C)
c.416-9T>C (n.416-9T>C)
n.745-9T>C
c.443-9T>C (n.443-9T>C)
n.778-9T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237377314T=CA2487310755RYR2c.464-9T= (n.464-9T=)
c.416-9T= (n.416-9T=)
n.745-9T=
c.443-9T= (n.443-9T=)
n.778-9T=
1g.237377314_237377315delinsCCCA913187564RYR2c.464-9_464-8delinsCC (n.464-9_464-8delinsCC)
c.416-9_416-8delinsCC (n.416-9_416-8delinsCC)
n.745-9_745-8delinsCC
c.443-9_443-8delinsCC (n.443-9_443-8delinsCC)
n.778-9_778-8delinsCC
 ClinVar dbSNP
1g.237377314_237377315delinsTACA2487310756RYR2c.464-9_464-8delinsTA (n.464-9_464-8delinsTA)
c.416-9_416-8delinsTA (n.416-9_416-8delinsTA)
n.745-9_745-8delinsTA
c.443-9_443-8delinsTA (n.443-9_443-8delinsTA)
n.778-9_778-8delinsTA
1g.237377315A=CA1140229752RYR2c.464-8A= (n.464-8A=)
c.416-8A= (n.416-8A=)
n.745-8A=
c.443-8A= (n.443-8A=)
n.778-8A=
1g.237377315A>CCA009619RYR2c.464-8A>C (n.464-8A>C)
c.416-8A>C (n.416-8A>C)
n.745-8A>C
c.443-8A>C (n.443-8A>C)
n.778-8A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237377315A>GCA529529424RYR2c.464-8A>G (n.464-8A>G)
c.416-8A>G (n.416-8A>G)
n.745-8A>G
c.443-8A>G (n.443-8A>G)
n.778-8A>G
 dbSNP gnomAD v2 gnomAD v4
1g.237377315A>TCA39774109RYR2c.464-8A>T (n.464-8A>T)
c.416-8A>T (n.416-8A>T)
n.745-8A>T
c.443-8A>T (n.443-8A>T)
n.778-8A>T
 ClinVar dbSNP gnomAD v4
1g.237377316T>CCA2651197419RYR2c.464-7T>C (n.464-7T>C)
c.416-7T>C (n.416-7T>C)
n.745-7T>C
c.443-7T>C (n.443-7T>C)
n.778-7T>C
 gnomAD v4
1g.237377317dupCA2748270813RYR2c.464-6dup (n.464-6dup)
c.416-6dup (n.416-6dup)
n.745-6dup
c.443-6dup (n.443-6dup)
n.778-6dup
1g.237377318T>CCA2651197420RYR2c.464-5T>C (n.464-5T>C)
c.416-5T>C (n.416-5T>C)
n.745-5T>C
c.443-5T>C (n.443-5T>C)
n.778-5T>C
 gnomAD v4
1g.237377319G>ACA2651197421RYR2c.464-4G>A (n.464-4G>A)
c.416-4G>A (n.416-4G>A)
n.745-4G>A
c.443-4G>A (n.443-4G>A)
n.778-4G>A
 gnomAD v4
1g.237377320C>ACA2542223046RYR2c.464-3C>A (n.464-3C>A)
c.416-3C>A (n.416-3C>A)
n.745-3C>A
c.443-3C>A (n.443-3C>A)
n.778-3C>A
 gnomAD v4
1g.237377320C>TCA2651197422RYR2c.464-3C>T (n.464-3C>T)
c.416-3C>T (n.416-3C>T)
n.745-3C>T
c.443-3C>T (n.443-3C>T)
n.778-3C>T
 gnomAD v4
1g.237377321A>CCA345375360RYR2c.464-2A>C (n.464-2A>C)
c.416-2A>C (n.416-2A>C)
n.745-2A>C
c.443-2A>C (n.443-2A>C)
n.778-2A>C
1g.237377321A>GCA345375362RYR2c.464-2A>G (n.464-2A>G)
c.416-2A>G (n.416-2A>G)
n.745-2A>G
c.443-2A>G (n.443-2A>G)
n.778-2A>G
 gnomAD v4
1g.237377321A>TCA345375363RYR2c.464-2A>T (n.464-2A>T)
c.416-2A>T (n.416-2A>T)
n.745-2A>T
c.443-2A>T (n.443-2A>T)
n.778-2A>T
1g.237377322G>ACA345375366RYR2c.464-1G>A (n.464-1G>A)
c.416-1G>A (n.416-1G>A)
n.745-1G>A
c.443-1G>A (n.443-1G>A)
n.778-1G>A
 ClinVar
1g.237377322G>CCA345375368RYR2c.464-1G>C (n.464-1G>C)
c.416-1G>C (n.416-1G>C)
n.745-1G>C
c.443-1G>C (n.443-1G>C)
n.778-1G>C
1g.237377322G>TCA345375370RYR2c.464-1G>T (n.464-1G>T)
c.416-1G>T (n.416-1G>T)
n.745-1G>T
c.443-1G>T (n.443-1G>T)
n.778-1G>T
1g.237377323G>ACA16609985RYR2c.464G>A (p.Gly155Glu)
c.416G>A (p.Gly139Glu)
n.745G>A
c.443G>A (p.Gly148Glu)
n.778G>A
 ClinVar dbSNP
1g.237377323G>CCA345375373RYR2c.464G>C (p.Gly155Ala)
c.416G>C (p.Gly139Ala)
n.745G>C
c.443G>C (p.Gly148Ala)
n.778G>C
1g.237377323G=CA2487310757RYR2c.464G= (p.Gly155=)
c.416G= (p.Gly139=)
n.745G=
c.443G= (p.Gly148=)
n.778G=
1g.237377323G>TCA345375375RYR2c.464G>T (p.Gly155Val)
c.416G>T (p.Gly139Val)
n.745G>T
c.443G>T (p.Gly148Val)
n.778G>T
 gnomAD v4
1g.237377324G>ACA423808688RYR2c.465G>A (p.Gly155=)
c.417G>A (p.Gly139=)
n.746G>A
c.444G>A (p.Gly148=)
n.779G>A
 dbSNP gnomAD v2 gnomAD v4
1g.237377324G>CCA423808689RYR2c.465G>C (p.Gly155=)
c.417G>C (p.Gly139=)
n.746G>C
c.444G>C (p.Gly148=)
n.779G>C
 gnomAD v4
1g.237377324G=CA2487310758RYR2c.465G= (p.Gly155=)
c.417G= (p.Gly139=)
n.746G=
c.444G= (p.Gly148=)
n.779G=
1g.237377324G>TCA423808690RYR2c.465G>T (p.Gly155=)
c.417G>T (p.Gly139=)
n.746G>T
c.444G>T (p.Gly148=)
n.779G>T
 ClinVar dbSNP COSMIC
1g.237377325G>ACA073194RYR2c.466G>A (p.Glu156Lys)
c.418G>A (p.Glu140Lys)
n.747G>A
c.445G>A (p.Glu149Lys)
n.780G>A
1g.237377325G>CCA345375378RYR2c.466G>C (p.Glu156Gln)
c.418G>C (p.Glu140Gln)
n.747G>C
c.445G>C (p.Glu149Gln)
n.780G>C
1g.237377325G>TCA345375380RYR2c.466G>T (p.Glu156Ter)
c.418G>T (p.Glu140Ter)
n.747G>T
c.445G>T (p.Glu149Ter)
n.780G>T
1g.237377326A=CA2487310759RYR2c.467A= (p.Glu156=)
c.419A= (p.Glu140=)
n.748A=
c.446A= (p.Glu149=)
n.781A=
1g.237377326A>CCA345375383RYR2c.467A>C (p.Glu156Ala)
c.419A>C (p.Glu140Ala)
n.748A>C
c.446A>C (p.Glu149Ala)
n.781A>C
1g.237377326A>GCA345375381RYR2c.467A>G (p.Glu156Gly)
c.419A>G (p.Glu140Gly)
n.748A>G
c.446A>G (p.Glu149Gly)
n.781A>G
 gnomAD v4
1g.237377326A>TCA345375382RYR2c.467A>T (p.Glu156Val)
c.419A>T (p.Glu140Val)
n.748A>T
c.446A>T (p.Glu149Val)
n.781A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237377327G>ACA086709RYR2c.468G>A (p.Glu156=)
c.420G>A (p.Glu140=)
n.749G>A
c.447G>A (p.Glu149=)
n.782G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.237377327G>CCA345375387RYR2c.468G>C (p.Glu156Asp)
c.420G>C (p.Glu140Asp)
n.749G>C
c.447G>C (p.Glu149Asp)
n.782G>C
1g.237377327G=CA2487310760RYR2c.468G= (p.Glu156=)
c.420G= (p.Glu140=)
n.749G=
c.447G= (p.Glu149=)
n.782G=
1g.237377327G>TCA345375388RYR2c.468G>T (p.Glu156Asp)
c.420G>T (p.Glu140Asp)
n.749G>T
c.447G>T (p.Glu149Asp)
n.782G>T
1g.237377328G>ACA345375390RYR2c.469G>A (p.Ala157Thr)
c.421G>A (p.Ala141Thr)
n.750G>A
c.448G>A (p.Ala150Thr)
n.783G>A
1g.237377328G>CCA345375392RYR2c.469G>C (p.Ala157Pro)
c.421G>C (p.Ala141Pro)
n.750G>C
c.448G>C (p.Ala150Pro)
n.783G>C
1g.237377328G=CA2487310761RYR2c.469G= (p.Ala157=)
c.421G= (p.Ala141=)
n.750G=
c.448G= (p.Ala150=)
n.783G=
1g.237377328G>TCA086710RYR2c.469G>T (p.Ala157Ser)
c.421G>T (p.Ala141Ser)
n.750G>T
c.448G>T (p.Ala150Ser)
n.783G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237377329C>ACA345375395RYR2c.470C>A (p.Ala157Asp)
c.422C>A (p.Ala141Asp)
n.751C>A
c.449C>A (p.Ala150Asp)
n.784C>A
1g.237377329C>GCA345375397RYR2c.470C>G (p.Ala157Gly)
c.422C>G (p.Ala141Gly)
n.751C>G
c.449C>G (p.Ala150Gly)
n.784C>G
1g.237377329C>TCA345375398RYR2c.470C>T (p.Ala157Val)
c.422C>T (p.Ala141Val)
n.751C>T
c.449C>T (p.Ala150Val)
n.784C>T
1g.237377330T>ACA423808694RYR2c.471T>A (p.Ala157=)
c.423T>A (p.Ala141=)
n.752T>A
c.450T>A (p.Ala150=)
n.785T>A
 COSMIC COSMIC
1g.237377330T>CCA423808692RYR2c.471T>C (p.Ala157=)
c.423T>C (p.Ala141=)
n.752T>C
c.450T>C (p.Ala150=)
n.785T>C
1g.237377330T>GCA423808693RYR2c.471T>G (p.Ala157=)
c.423T>G (p.Ala141=)
n.752T>G
c.450T>G (p.Ala150=)
n.785T>G
1g.237377333_237377335delCA2580611239RYR2c.474_476del (p.Cys158del)
c.426_428del (p.Cys142del)
n.755_757del
c.453_455del (p.Cys151del)
n.788_790del
 ClinVar dbSNP
1g.237377331T>ACA345375399RYR2c.472T>A (p.Cys158Ser)
c.424T>A (p.Cys142Ser)
n.753T>A
c.451T>A (p.Cys151Ser)
n.786T>A
1g.237377331T>CCA345375400RYR2c.472T>C (p.Cys158Arg)
c.424T>C (p.Cys142Arg)
n.753T>C
c.451T>C (p.Cys151Arg)
n.786T>C
1g.237377331T>GCA345375402RYR2c.472T>G (p.Cys158Gly)
c.424T>G (p.Cys142Gly)
n.753T>G
c.451T>G (p.Cys151Gly)
n.786T>G
1g.237377332G>ACA345375406RYR2c.473G>A (p.Cys158Tyr)
c.425G>A (p.Cys142Tyr)
n.754G>A
c.452G>A (p.Cys151Tyr)
n.787G>A
 ClinVar dbSNP gnomAD v4
1g.237377332G>CCA345375405RYR2c.473G>C (p.Cys158Ser)
c.425G>C (p.Cys142Ser)
n.754G>C
c.452G>C (p.Cys151Ser)
n.787G>C
1g.237377332G>TCA345375403RYR2c.473G>T (p.Cys158Phe)
c.425G>T (p.Cys142Phe)
n.754G>T
c.452G>T (p.Cys151Phe)
n.787G>T
1g.237377333T>ACA345375407RYR2c.474T>A (p.Cys158Ter)
c.426T>A (p.Cys142Ter)
n.755T>A
c.453T>A (p.Cys151Ter)
n.788T>A
1g.237377333T>CCA086725RYR2c.474T>C (p.Cys158=)
c.426T>C (p.Cys142=)
n.755T>C
c.453T>C (p.Cys151=)
n.788T>C
 ClinVar dbSNP ExAC
1g.237377333T>GCA345375409RYR2c.474T>G (p.Cys158Trp)
c.426T>G (p.Cys142Trp)
n.755T>G
c.453T>G (p.Cys151Trp)
n.788T>G
 gnomAD v4
1g.237377333T=CA2487310762RYR2c.474T= (p.Cys158=)
c.426T= (p.Cys142=)
n.755T=
c.453T= (p.Cys151=)
n.788T=
1g.237377334T>ACA345375411RYR2c.475T>A (p.Trp159Arg)
c.427T>A (p.Trp143Arg)
n.756T>A
c.454T>A (p.Trp152Arg)
n.789T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237377334T>CCA345375414RYR2c.475T>C (p.Trp159Arg)
c.427T>C (p.Trp143Arg)
n.756T>C
c.454T>C (p.Trp152Arg)
n.789T>C
1g.237377334T>GCA345375415RYR2c.475T>G (p.Trp159Gly)
c.427T>G (p.Trp143Gly)
n.756T>G
c.454T>G (p.Trp152Gly)
n.789T>G
 dbSNP gnomAD v2 gnomAD v4
1g.237377334T=CA2487310763RYR2c.475T= (p.Trp159=)
c.427T= (p.Trp143=)
n.756T=
c.454T= (p.Trp152=)
n.789T=
1g.237377335G>ACA345375417RYR2c.476G>A (p.Trp159Ter)
c.428G>A (p.Trp143Ter)
n.757G>A
c.455G>A (p.Trp152Ter)
n.790G>A
1g.237377335G>CCA345375419RYR2c.476G>C (p.Trp159Ser)
c.428G>C (p.Trp143Ser)
n.757G>C
c.455G>C (p.Trp152Ser)
n.790G>C
1g.237377335G>TCA345375421RYR2c.476G>T (p.Trp159Leu)
c.428G>T (p.Trp143Leu)
n.757G>T
c.455G>T (p.Trp152Leu)
n.790G>T
 ClinVar gnomAD v4
1g.237377336G>ACA345375422RYR2c.477G>A (p.Trp159Ter)
c.429G>A (p.Trp143Ter)
n.758G>A
c.456G>A (p.Trp152Ter)
n.791G>A
1g.237377336G>CCA345375423RYR2c.477G>C (p.Trp159Cys)
c.429G>C (p.Trp143Cys)
n.758G>C
c.456G>C (p.Trp152Cys)
n.791G>C
1g.237377336G>TCA345375424RYR2c.477G>T (p.Trp159Cys)
c.429G>T (p.Trp143Cys)
n.758G>T
c.456G>T (p.Trp152Cys)
n.791G>T
 gnomAD v4
1g.237377337T>ACA345375426RYR2c.478T>A (p.Trp160Arg)
c.430T>A (p.Trp144Arg)
n.759T>A
c.457T>A (p.Trp153Arg)
n.792T>A
1g.237377337T>CCA345375427RYR2c.478T>C (p.Trp160Arg)
c.430T>C (p.Trp144Arg)
n.759T>C
c.457T>C (p.Trp153Arg)
n.792T>C
1g.237377337T>GCA345375425RYR2c.478T>G (p.Trp160Gly)
c.430T>G (p.Trp144Gly)
n.759T>G
c.457T>G (p.Trp153Gly)
n.792T>G
 dbSNP
1g.237377337T=CA2487310764RYR2c.478T= (p.Trp160=)
c.430T= (p.Trp144=)
n.759T=
c.457T= (p.Trp153=)
n.792T=
1g.237377338G>ACA345375429RYR2c.479G>A (p.Trp160Ter)
c.431G>A (p.Trp144Ter)
n.760G>A
c.458G>A (p.Trp153Ter)
n.793G>A
 gnomAD v4
1g.237377338G>CCA345375430RYR2c.479G>C (p.Trp160Ser)
c.431G>C (p.Trp144Ser)
n.760G>C
c.458G>C (p.Trp153Ser)
n.793G>C
1g.237377338G>TCA345375431RYR2c.479G>T (p.Trp160Leu)
c.431G>T (p.Trp144Leu)
n.760G>T
c.458G>T (p.Trp153Leu)
n.793G>T
1g.237377339G>ACA345375434RYR2c.480G>A (p.Trp160Ter)
c.432G>A (p.Trp144Ter)
n.761G>A
c.459G>A (p.Trp153Ter)
n.794G>A
1g.237377339G>CCA345375436RYR2c.480G>C (p.Trp160Cys)
c.432G>C (p.Trp144Cys)
n.761G>C
c.459G>C (p.Trp153Cys)
n.794G>C
1g.237377339G>TCA345375437RYR2c.480G>T (p.Trp160Cys)
c.432G>T (p.Trp144Cys)
n.761G>T
c.459G>T (p.Trp153Cys)
n.794G>T
1g.237377340A>CCA345375438RYR2c.481A>C (p.Thr161Pro)
c.433A>C (p.Thr145Pro)
n.762A>C
c.460A>C (p.Thr154Pro)
n.795A>C
1g.237377340A>GCA345375440RYR2c.481A>G (p.Thr161Ala)
c.433A>G (p.Thr145Ala)
n.762A>G
c.460A>G (p.Thr154Ala)
n.795A>G
 gnomAD v4 COSMIC COSMIC
1g.237377340A>TCA345375439RYR2c.481A>T (p.Thr161Ser)
c.433A>T (p.Thr145Ser)
n.762A>T
c.460A>T (p.Thr154Ser)
n.795A>T
 ClinVar dbSNP
1g.237377341C>ACA345375442RYR2c.482C>A (p.Thr161Asn)
c.434C>A (p.Thr145Asn)
n.763C>A
c.461C>A (p.Thr154Asn)
n.796C>A
1g.237377341C>GCA345375443RYR2c.482C>G (p.Thr161Ser)
c.434C>G (p.Thr145Ser)
n.763C>G
c.461C>G (p.Thr154Ser)
n.796C>G
 gnomAD v4
1g.237377341C>TCA345375446RYR2c.482C>T (p.Thr161Ile)
c.434C>T (p.Thr145Ile)
n.763C>T
c.461C>T (p.Thr154Ile)
n.796C>T
 dbSNP gnomAD v4
1g.237377342C>ACA423808696RYR2c.483C>A (p.Thr161=)
c.435C>A (p.Thr145=)
n.764C>A
c.462C>A (p.Thr154=)
n.797C>A
 ClinVar
1g.237377342C=CA2487310765RYR2c.483C= (p.Thr161=)
c.435C= (p.Thr145=)
n.764C=
c.462C= (p.Thr154=)
n.797C=
1g.237377342C>GCA423808697RYR2c.483C>G (p.Thr161=)
c.435C>G (p.Thr145=)
n.764C>G
c.462C>G (p.Thr154=)
n.797C>G
1g.237377342C>TCA39774114RYR2c.483C>T (p.Thr161=)
c.435C>T (p.Thr145=)
n.764C>T
c.462C>T (p.Thr154=)
n.797C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.237377343A=CA2487310766RYR2c.484A= (p.Ile162=)
c.436A= (p.Ile146=)
n.765A=
c.463A= (p.Ile155=)
n.798A=
1g.237377343A>CCA345375449RYR2c.484A>C (p.Ile162Leu)
c.436A>C (p.Ile146Leu)
n.765A>C
c.463A>C (p.Ile155Leu)
n.798A>C
1g.237377343A>GCA345375453RYR2c.484A>G (p.Ile162Val)
c.436A>G (p.Ile146Val)
n.765A>G
c.463A>G (p.Ile155Val)
n.798A>G
1g.237377343A>TCA345375451RYR2c.484A>T (p.Ile162Leu)
c.436A>T (p.Ile146Leu)
n.765A>T
c.463A>T (p.Ile155Leu)
n.798A>T
 gnomAD v4
1g.237377344T>ACA345375455RYR2c.485T>A (p.Ile162Lys)
c.437T>A (p.Ile146Lys)
n.766T>A
c.464T>A (p.Ile155Lys)
n.799T>A
1g.237377344T>CCA345375458RYR2c.485T>C (p.Ile162Thr)
c.437T>C (p.Ile146Thr)
n.766T>C
c.464T>C (p.Ile155Thr)
n.799T>C
 gnomAD v4
1g.237377344T>GCA345375456RYR2c.485T>G (p.Ile162Arg)
c.437T>G (p.Ile146Arg)
n.766T>G
c.464T>G (p.Ile155Arg)
n.799T>G
1g.237377344_237377348dupCA658795629RYR2c.485_489dup (p.Pro164TyrfsTer22)
c.437_441dup (p.Pro148TyrfsTer22)
n.766_770dup
c.464_468dup (p.Pro157TyrfsTer22)
n.799_803dup
 ClinVar dbSNP
1g.237377345A>CCA423808698RYR2c.486A>C (p.Ile162=)
c.438A>C (p.Ile146=)
n.767A>C
c.465A>C (p.Ile155=)
n.800A>C
1g.237377345A>GCA345375460RYR2c.486A>G (p.Ile162Met)
c.438A>G (p.Ile146Met)
n.767A>G
c.465A>G (p.Ile155Met)
n.800A>G
1g.237377345A>TCA423808699RYR2c.486A>T (p.Ile162=)
c.438A>T (p.Ile146=)
n.767A>T
c.465A>T (p.Ile155=)
n.800A>T
1g.237377346C>ACA345375467RYR2c.487C>A (p.His163Asn)
c.439C>A (p.His147Asn)
n.768C>A
c.466C>A (p.His156Asn)
n.801C>A
1g.237377346C>GCA345375462RYR2c.487C>G (p.His163Asp)
c.439C>G (p.His147Asp)
n.768C>G
c.466C>G (p.His156Asp)
n.801C>G
1g.237377346C>TCA345375464RYR2c.487C>T (p.His163Tyr)
c.439C>T (p.His147Tyr)
n.768C>T
c.466C>T (p.His156Tyr)
n.801C>T
 gnomAD v4
1g.237377347A=CA2487310767RYR2c.488A= (p.His163=)
c.440A= (p.His147=)
n.769A=
c.467A= (p.His156=)
n.802A=
1g.237377347A>CCA345375470RYR2c.488A>C (p.His163Pro)
c.440A>C (p.His147Pro)
n.769A>C
c.467A>C (p.His156Pro)
n.802A>C
 dbSNP
1g.237377347A>GCA073181RYR2c.488A>G (p.His163Arg)
c.440A>G (p.His147Arg)
n.769A>G
c.467A>G (p.His156Arg)
n.802A>G
1g.237377347A>TCA345375472RYR2c.488A>T (p.His163Leu)
c.440A>T (p.His147Leu)
n.769A>T
c.467A>T (p.His156Leu)
n.802A>T
 gnomAD v4
1g.237377348C>ACA345375474RYR2c.489C>A (p.His163Gln)
c.441C>A (p.His147Gln)
n.770C>A
c.468C>A (p.His156Gln)
n.803C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.237377348C=CA2487310768RYR2c.489C= (p.His163=)
c.441C= (p.His147=)
n.770C=
c.468C= (p.His156=)
n.803C=
1g.237377348C>GCA345375475RYR2c.489C>G (p.His163Gln)
c.441C>G (p.His147Gln)
n.770C>G
c.468C>G (p.His156Gln)
n.803C>G
1g.237377348C>TCA423808700RYR2c.489C>T (p.His163=)
c.441C>T (p.His147=)
n.770C>T
c.468C>T (p.His156=)
n.803C>T
 gnomAD v4
1g.237377349C>ACA086764RYR2c.490C>A (p.Pro164Thr)
c.442C>A (p.Pro148Thr)
n.771C>A
c.469C>A (p.Pro157Thr)
n.804C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.237377349C=CA2487310769RYR2c.490C= (p.Pro164=)
c.442C= (p.Pro148=)
n.771C=
c.469C= (p.Pro157=)
n.804C=
1g.237377349C>GCA345375478RYR2c.490C>G (p.Pro164Ala)
c.442C>G (p.Pro148Ala)
n.771C>G
c.469C>G (p.Pro157Ala)
n.804C>G
1g.237377349C>TCA345375479RYR2c.490C>T (p.Pro164Ser)
c.442C>T (p.Pro148Ser)
n.771C>T
c.469C>T (p.Pro157Ser)
n.804C>T
 ClinVar dbSNP
1g.237377350C>ACA345375485RYR2c.491C>A (p.Pro164His)
c.443C>A (p.Pro148His)
n.772C>A
c.470C>A (p.Pro157His)
n.805C>A
1g.237377350C>GCA345375484RYR2c.491C>G (p.Pro164Arg)
c.443C>G (p.Pro148Arg)
n.772C>G
c.470C>G (p.Pro157Arg)
n.805C>G
1g.237377350C>TCA345375482RYR2c.491C>T (p.Pro164Leu)
c.443C>T (p.Pro148Leu)
n.772C>T
c.470C>T (p.Pro157Leu)
n.805C>T
1g.237377351T>ACA423808703RYR2c.492T>A (p.Pro164=)
c.444T>A (p.Pro148=)
n.773T>A
c.471T>A (p.Pro157=)
n.806T>A
1g.237377351T>CCA423808702RYR2c.492T>C (p.Pro164=)
c.444T>C (p.Pro148=)
n.773T>C
c.471T>C (p.Pro157=)
n.806T>C
 gnomAD v4
1g.237377351T>GCA423808701RYR2c.492T>G (p.Pro164=)
c.444T>G (p.Pro148=)
n.773T>G
c.471T>G (p.Pro157=)
n.806T>G
 gnomAD v4
1g.237377352G>ACA345375488RYR2c.493G>A (p.Ala165Thr)
c.445G>A (p.Ala149Thr)
n.774G>A
c.472G>A (p.Ala158Thr)
n.807G>A
1g.237377352G>CCA345375490RYR2c.493G>C (p.Ala165Pro)
c.445G>C (p.Ala149Pro)
n.774G>C
c.472G>C (p.Ala158Pro)
n.807G>C
1g.237377352G>TCA345375492RYR2c.493G>T (p.Ala165Ser)
c.445G>T (p.Ala149Ser)
n.774G>T
c.472G>T (p.Ala158Ser)
n.807G>T
1g.237377353C>ACA345375494RYR2c.494C>A (p.Ala165Asp)
c.446C>A (p.Ala149Asp)
n.775C>A
c.473C>A (p.Ala158Asp)
n.808C>A
1g.237377353C>GCA345375495RYR2c.494C>G (p.Ala165Gly)
c.446C>G (p.Ala149Gly)
n.775C>G
c.473C>G (p.Ala158Gly)
n.808C>G
1g.237377353C>TCA345375497RYR2c.494C>T (p.Ala165Val)
c.446C>T (p.Ala149Val)
n.775C>T
c.473C>T (p.Ala158Val)
n.808C>T
1g.237377354C>ACA423808704RYR2c.495C>A (p.Ala165=)
c.447C>A (p.Ala149=)
n.776C>A
c.474C>A (p.Ala158=)
n.809C>A
1g.237377354C>GCA423808705RYR2c.495C>G (p.Ala165=)
c.447C>G (p.Ala149=)
n.776C>G
c.474C>G (p.Ala158=)
n.809C>G
1g.237377354C>TCA423808706RYR2c.495C>T (p.Ala165=)
c.447C>T (p.Ala149=)
n.776C>T
c.474C>T (p.Ala158=)
n.809C>T
 gnomAD v4
1g.237377355T>ACA345375498RYR2c.496T>A (p.Ser166Thr)
c.448T>A (p.Ser150Thr)
n.777T>A
c.475T>A (p.Ser159Thr)
n.810T>A
1g.237377355T>CCA345375500RYR2c.496T>C (p.Ser166Pro)
c.448T>C (p.Ser150Pro)
n.777T>C
c.475T>C (p.Ser159Pro)
n.810T>C
1g.237377355T>GCA345375502RYR2c.496T>G (p.Ser166Ala)
c.448T>G (p.Ser150Ala)
n.777T>G
c.475T>G (p.Ser159Ala)
n.810T>G
1g.237377356C>ACA345375503RYR2c.497C>A (p.Ser166Tyr)
c.449C>A (p.Ser150Tyr)
n.778C>A
c.476C>A (p.Ser159Tyr)
n.811C>A
1g.237377356C=CA2487310770RYR2c.497C= (p.Ser166=)
c.449C= (p.Ser150=)
n.778C=
c.476C= (p.Ser159=)
n.811C=
1g.237377356C>GCA204277RYR2c.497C>G (p.Ser166Cys)
c.449C>G (p.Ser150Cys)
n.778C>G
c.476C>G (p.Ser159Cys)
n.811C>G
 ClinVar dbSNP gnomAD v4
1g.237377356C>TCA345375506RYR2c.497C>T (p.Ser166Phe)
c.449C>T (p.Ser150Phe)
n.778C>T
c.476C>T (p.Ser159Phe)
n.811C>T
 ClinVar
1g.237377357T>ACA423808708RYR2c.498T>A (p.Ser166=)
c.450T>A (p.Ser150=)
n.779T>A
c.477T>A (p.Ser159=)
n.812T>A
1g.237377357T>CCA423808710RYR2c.498T>C (p.Ser166=)
c.450T>C (p.Ser150=)
n.779T>C
c.477T>C (p.Ser159=)
n.812T>C
1g.237377357T>GCA423808709RYR2c.498T>G (p.Ser166=)
c.450T>G (p.Ser150=)
n.779T>G
c.477T>G (p.Ser159=)
n.812T>G
1g.237377358A=CA2487310771RYR2c.499A= (p.Lys167=)
c.451A= (p.Lys151=)
n.780A=
c.478A= (p.Lys160=)
n.813A=
1g.237377358A>CCA345375510RYR2c.499A>C (p.Lys167Gln)
c.451A>C (p.Lys151Gln)
n.780A>C
c.478A>C (p.Lys160Gln)
n.813A>C
1g.237377358A>GCA009746RYR2c.499A>G (p.Lys167Glu)
c.451A>G (p.Lys151Glu)
n.780A>G
c.478A>G (p.Lys160Glu)
n.813A>G
 ClinVar dbSNP
1g.237377358A>TCA345375508RYR2c.499A>T (p.Lys167Ter)
c.451A>T (p.Lys151Ter)
n.780A>T
c.478A>T (p.Lys160Ter)
n.813A>T
1g.237377359A>CCA345375512RYR2c.500A>C (p.Lys167Thr)
c.452A>C (p.Lys151Thr)
n.781A>C
c.479A>C (p.Lys160Thr)
n.814A>C
1g.237377359A>GCA345375514RYR2c.500A>G (p.Lys167Arg)
c.452A>G (p.Lys151Arg)
n.781A>G
c.479A>G (p.Lys160Arg)
n.814A>G
1g.237377359A>TCA345375516RYR2c.500A>T (p.Lys167Met)
c.452A>T (p.Lys151Met)
n.781A>T
c.479A>T (p.Lys160Met)
n.814A>T
 COSMIC COSMIC
1g.237377360G>ACA423808711RYR2c.501G>A (p.Lys167=)
c.453G>A (p.Lys151=)
n.782G>A
c.480G>A (p.Lys160=)
n.815G>A
1g.237377360G>CCA345375518RYR2c.501G>C (p.Lys167Asn)
c.453G>C (p.Lys151Asn)
n.782G>C
c.480G>C (p.Lys160Asn)
n.815G>C
1g.237377360G>TCA345375519RYR2c.501G>T (p.Lys167Asn)
c.453G>T (p.Lys151Asn)
n.782G>T
c.480G>T (p.Lys160Asn)
n.815G>T
1g.237377361C>ACA345375520RYR2c.502C>A (p.Gln168Lys)
c.454C>A (p.Gln152Lys)
n.783C>A
c.481C>A (p.Gln161Lys)
n.816C>A
1g.237377361C=CA2487310772RYR2c.502C= (p.Gln168=)
c.454C= (p.Gln152=)
n.783C=
c.481C= (p.Gln161=)
n.816C=
1g.237377361C>GCA345375521RYR2c.502C>G (p.Gln168Glu)
c.454C>G (p.Gln152Glu)
n.783C>G
c.481C>G (p.Gln161Glu)
n.816C>G
 ClinVar dbSNP
1g.237377361C>TCA345375522RYR2c.502C>T (p.Gln168Ter)
c.454C>T (p.Gln152Ter)
n.783C>T
c.481C>T (p.Gln161Ter)
n.816C>T
1g.237377362A>CCA345375524RYR2c.503A>C (p.Gln168Pro)
c.455A>C (p.Gln152Pro)
n.784A>C
c.482A>C (p.Gln161Pro)
n.817A>C
1g.237377362A>GCA345375527RYR2c.503A>G (p.Gln168Arg)
c.455A>G (p.Gln152Arg)
n.784A>G
c.482A>G (p.Gln161Arg)
n.817A>G
1g.237377362A>TCA345375529RYR2c.503A>T (p.Gln168Leu)
c.455A>T (p.Gln152Leu)
n.784A>T
c.482A>T (p.Gln161Leu)
n.817A>T
 COSMIC COSMIC
1g.237377363G>ACA423808712RYR2c.504G>A (p.Gln168=)
c.456G>A (p.Gln152=)
n.785G>A
c.483G>A (p.Gln161=)
n.818G>A
 ClinVar dbSNP
1g.237377363G>CCA345375531RYR2c.504G>C (p.Gln168His)
c.456G>C (p.Gln152His)
n.785G>C
c.483G>C (p.Gln161His)
n.818G>C
1g.237377363G>TCA345375532RYR2c.504G>T (p.Gln168His)
c.456G>T (p.Gln152His)
n.785G>T
c.483G>T (p.Gln161His)
n.818G>T
1g.237377364C>ACA423808713RYR2c.505C>A (p.Arg169=)
c.457C>A (p.Arg153=)
n.786C>A
c.484C>A (p.Arg162=)
n.819C>A
1g.237377364C=CA1149154535RYR2c.505C= (p.Arg169=)
c.457C= (p.Arg153=)
n.786C=
c.484C= (p.Arg162=)
n.819C=
1g.237377364C>GCA345375534RYR2c.505C>G (p.Arg169Gly)
c.457C>G (p.Arg153Gly)
n.786C>G
c.484C>G (p.Arg162Gly)
n.819C>G
 ClinVar
1g.237377364C>TCA086827RYR2c.505C>T (p.Arg169Ter)
c.457C>T (p.Arg153Ter)
n.786C>T
c.484C>T (p.Arg162Ter)
n.819C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237377365G>ACA009771RYR2c.506G>A (p.Arg169Gln)
c.458G>A (p.Arg153Gln)
n.787G>A
c.485G>A (p.Arg162Gln)
n.820G>A
 ClinVar dbSNP COSMIC COSMIC
1g.237377365G>CCA345375538RYR2c.506G>C (p.Arg169Pro)
c.458G>C (p.Arg153Pro)
n.787G>C
c.485G>C (p.Arg162Pro)
n.820G>C
1g.237377365G=CA1144229246RYR2c.506G= (p.Arg169=)
c.458G= (p.Arg153=)
n.787G=
c.485G= (p.Arg162=)
n.820G=
1g.237377365G>TCA16042319RYR2c.506G>T (p.Arg169Leu)
c.458G>T (p.Arg153Leu)
n.787G>T
c.485G>T (p.Arg162Leu)
n.820G>T
 ClinVar dbSNP
1g.237377366A>CCA423808714RYR2c.507A>C (p.Arg169=)
c.459A>C (p.Arg153=)
n.788A>C
c.486A>C (p.Arg162=)
n.821A>C
1g.237377366A>GCA423808715RYR2c.507A>G (p.Arg169=)
c.459A>G (p.Arg153=)
n.788A>G
c.486A>G (p.Arg162=)
n.821A>G
1g.237377366A>TCA423808716RYR2c.507A>T (p.Arg169=)
c.459A>T (p.Arg153=)
n.788A>T
c.486A>T (p.Arg162=)
n.821A>T
 gnomAD v4
1g.237377367T>ACA345375541RYR2c.508T>A (p.Ser170Thr)
c.460T>A (p.Ser154Thr)
n.789T>A
c.487T>A (p.Ser163Thr)
n.822T>A
 ClinVar dbSNP
1g.237377367T>CCA345375543RYR2c.508T>C (p.Ser170Pro)
c.460T>C (p.Ser154Pro)
n.789T>C
c.487T>C (p.Ser163Pro)
n.822T>C
1g.237377367T>GCA345375545RYR2c.508T>G (p.Ser170Ala)
c.460T>G (p.Ser154Ala)
n.789T>G
c.487T>G (p.Ser163Ala)
n.822T>G
1g.237377367T=CA2487310773RYR2c.508T= (p.Ser170=)
c.460T= (p.Ser154=)
n.789T=
c.487T= (p.Ser163=)
n.822T=
1g.237377368C>ACA345375548RYR2c.509C>A (p.Ser170Ter)
c.461C>A (p.Ser154Ter)
n.790C>A
c.488C>A (p.Ser163Ter)
n.823C>A
1g.237377368C=CA2487310774RYR2c.509C= (p.Ser170=)
c.461C= (p.Ser154=)
n.790C=
c.488C= (p.Ser163=)
n.823C=
1g.237377368C>GCA086832RYR2c.509C>G (p.Ser170Ter)
c.461C>G (p.Ser154Ter)
n.790C>G
c.488C>G (p.Ser163Ter)
n.823C>G
 dbSNP ExAC gnomAD v2
1g.237377368C>TCA345375551RYR2c.509C>T (p.Ser170Leu)
c.461C>T (p.Ser154Leu)
n.790C>T
c.488C>T (p.Ser163Leu)
n.823C>T
1g.237377368_237377371delinsCAGACA2487310775RYR2c.509_512delinsCAGA (p.Ser170=)
c.461_464delinsCAGA (p.Ser154=)
n.790_793delinsCAGA
c.488_491delinsCAGA (p.Ser163=)
n.823_826delinsCAGA
1g.237377369A=CA2487310776RYR2c.510A= (p.Ser170=)
c.462A= (p.Ser154=)
n.791A=
c.489A= (p.Ser163=)
n.824A=
1g.237377369A>CCA16603555RYR2c.510A>C (p.Ser170=)
c.462A>C (p.Ser154=)
n.791A>C
c.489A>C (p.Ser163=)
n.824A>C
 ClinVar dbSNP gnomAD v4
1g.237377369A>GCA423808717RYR2c.510A>G (p.Ser170=)
c.462A>G (p.Ser154=)
n.791A>G
c.489A>G (p.Ser163=)
n.824A>G
1g.237377369A>TCA423808718RYR2c.510A>T (p.Ser170=)
c.462A>T (p.Ser154=)
n.791A>T
c.489A>T (p.Ser163=)
n.824A>T
1g.237377371_237377373delCA009784RYR2c.512_514del (p.Glu171del)
c.464_466del (p.Glu155del)
n.793_795del
c.491_493del (p.Glu164del)
n.826_828del
 ClinVar dbSNP
1g.237377369_237377370insCCA073161RYR2c.510_511insC (p.Glu171ArgfsTer10)
c.462_463insC (p.Glu155ArgfsTer10)
n.791_792insC
c.489_490insC (p.Glu164ArgfsTer10)
n.824_825insC
1g.237377370G>ACA345375555RYR2c.511G>A (p.Glu171Lys)
c.463G>A (p.Glu155Lys)
n.792G>A
c.490G>A (p.Glu164Lys)
n.825G>A
1g.237377370G>CCA345375557RYR2c.511G>C (p.Glu171Gln)
c.463G>C (p.Glu155Gln)
n.792G>C
c.490G>C (p.Glu164Gln)
n.825G>C
1g.237377370G>TCA073293RYR2c.511G>T (p.Glu171Ter)
c.463G>T (p.Glu155Ter)
n.792G>T
c.490G>T (p.Glu164Ter)
n.825G>T
1g.237377371A>CCA345375560RYR2c.512A>C (p.Glu171Ala)
c.464A>C (p.Glu155Ala)
n.793A>C
c.491A>C (p.Glu164Ala)
n.826A>C
1g.237377371A>GCA073163RYR2c.512A>G (p.Glu171Gly)
c.464A>G (p.Glu155Gly)
n.793A>G
c.491A>G (p.Glu164Gly)
n.826A>G
1g.237377371A>TCA345375562RYR2c.512A>T (p.Glu171Val)
c.464A>T (p.Glu155Val)
n.793A>T
c.491A>T (p.Glu164Val)
n.826A>T
1g.237377372A=CA2487310777RYR2c.513A= (p.Glu171=)
c.465A= (p.Glu155=)
n.794A=
c.492A= (p.Glu164=)
n.827A=
1g.237377372A>CCA345375566RYR2c.513A>C (p.Glu171Asp)
c.465A>C (p.Glu155Asp)
n.794A>C
c.492A>C (p.Glu164Asp)
n.827A>C
1g.237377372A>GCA39774121RYR2c.513A>G (p.Glu171=)
c.465A>G (p.Glu155=)
n.794A>G
c.492A>G (p.Glu164=)
n.827A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.237377372A>TCA345375564RYR2c.513A>T (p.Glu171Asp)
c.465A>T (p.Glu155Asp)
n.794A>T
c.492A>T (p.Glu164Asp)
n.827A>T
1g.237377373G>ACA345375569RYR2c.514G>A (p.Gly172Arg)
c.466G>A (p.Gly156Arg)
n.795G>A
c.493G>A (p.Gly165Arg)
n.828G>A
 ClinVar dbSNP
1g.237377373G>CCA345375570RYR2c.514G>C (p.Gly172Arg)
c.466G>C (p.Gly156Arg)
n.795G>C
c.493G>C (p.Gly165Arg)
n.828G>C
1g.237377373G=CA2487310778RYR2c.514G= (p.Gly172=)
c.466G= (p.Gly156=)
n.795G=
c.493G= (p.Gly165=)
n.828G=
1g.237377373G>TCA345375572RYR2c.514G>T (p.Gly172Ter)
c.466G>T (p.Gly156Ter)
n.795G>T
c.493G>T (p.Gly165Ter)
n.828G>T
 dbSNP
1g.237377374G>ACA345375574RYR2c.515G>A (p.Gly172Glu)
c.467G>A (p.Gly156Glu)
n.796G>A
c.494G>A (p.Gly165Glu)
n.829G>A
 ClinVar dbSNP COSMIC COSMIC
1g.237377374G>CCA345375576RYR2c.515G>C (p.Gly172Ala)
c.467G>C (p.Gly156Ala)
n.796G>C
c.494G>C (p.Gly165Ala)
n.829G>C
1g.237377374G=CA2487310779RYR2c.515G= (p.Gly172=)
c.467G= (p.Gly156=)
n.796G=
c.494G= (p.Gly165=)
n.829G=
1g.237377374G>TCA345375579RYR2c.515G>T (p.Gly172Val)
c.467G>T (p.Gly156Val)
n.796G>T
c.494G>T (p.Gly165Val)
n.829G>T
1g.237377375A>CCA423808719RYR2c.516A>C (p.Gly172=)
c.468A>C (p.Gly156=)
n.797A>C
c.495A>C (p.Gly165=)
n.830A>C
1g.237377375A>GCA423808720RYR2c.516A>G (p.Gly172=)
c.468A>G (p.Gly156=)
n.797A>G
c.495A>G (p.Gly165=)
n.830A>G
1g.237377375A>TCA423808721RYR2c.516A>T (p.Gly172=)
c.468A>T (p.Gly156=)
n.797A>T
c.495A>T (p.Gly165=)
n.830A>T
 ClinVar
1g.237377376G>ACA345375580RYR2c.517G>A (p.Glu173Lys)
c.469G>A (p.Glu157Lys)
n.798G>A
c.496G>A (p.Glu166Lys)
n.831G>A
1g.237377376G>CCA345375581RYR2c.517G>C (p.Glu173Gln)
c.469G>C (p.Glu157Gln)
n.798G>C
c.496G>C (p.Glu166Gln)
n.831G>C
1g.237377376G>TCA345375582RYR2c.517G>T (p.Glu173Ter)
c.469G>T (p.Glu157Ter)
n.798G>T
c.496G>T (p.Glu166Ter)
n.831G>T
1g.237377377A>CCA345375584RYR2c.518A>C (p.Glu173Ala)
c.470A>C (p.Glu157Ala)
n.799A>C
c.497A>C (p.Glu166Ala)
n.832A>C
1g.237377377A>GCA345375585RYR2c.518A>G (p.Glu173Gly)
c.470A>G (p.Glu157Gly)
n.799A>G
c.497A>G (p.Glu166Gly)
n.832A>G
1g.237377377A>TCA345375587RYR2c.518A>T (p.Glu173Val)
c.470A>T (p.Glu157Val)
n.799A>T
c.497A>T (p.Glu166Val)
n.832A>T
1g.237377378A=CA2487310780RYR2c.519A= (p.Glu173=)
c.471A= (p.Glu157=)
n.800A=
c.498A= (p.Glu166=)
n.833A=
1g.237377378A>CCA345375589RYR2c.519A>C (p.Glu173Asp)
c.471A>C (p.Glu157Asp)
n.800A>C
c.498A>C (p.Glu166Asp)
n.833A>C
1g.237377378A>GCA423808722RYR2c.519A>G (p.Glu173=)
c.471A>G (p.Glu157=)
n.800A>G
c.498A>G (p.Glu166=)
n.833A>G
 ClinVar dbSNP
1g.237377378A>TCA345375591RYR2c.519A>T (p.Glu173Asp)
c.471A>T (p.Glu157Asp)
n.800A>T
c.498A>T (p.Glu166Asp)
n.833A>T
1g.237377379A>CCA345375593RYR2c.520A>C (p.Lys174Gln)
c.472A>C (p.Lys158Gln)
n.801A>C
c.499A>C (p.Lys167Gln)
n.834A>C
1g.237377379A>GCA345375595RYR2c.520A>G (p.Lys174Glu)
c.472A>G (p.Lys158Glu)
n.801A>G
c.499A>G (p.Lys167Glu)
n.834A>G
1g.237377379A>TCA345375597RYR2c.520A>T (p.Lys174Ter)
c.472A>T (p.Lys158Ter)
n.801A>T
c.499A>T (p.Lys167Ter)
n.834A>T
1g.237377380A>CCA345375599RYR2c.521A>C (p.Lys174Thr)
c.473A>C (p.Lys158Thr)
n.802A>C
c.500A>C (p.Lys167Thr)
n.835A>C
1g.237377380A>GCA345375600RYR2c.521A>G (p.Lys174Arg)
c.473A>G (p.Lys158Arg)
n.802A>G
c.500A>G (p.Lys167Arg)
n.835A>G
1g.237377380A>TCA345375603RYR2c.521A>T (p.Lys174Ile)
c.473A>T (p.Lys158Ile)
n.802A>T
c.500A>T (p.Lys167Ile)
n.835A>T
1g.237377381A>CCA345375604RYR2c.522A>C (p.Lys174Asn)
c.474A>C (p.Lys158Asn)
n.803A>C
c.501A>C (p.Lys167Asn)
n.836A>C
1g.237377381A>GCA423808723RYR2c.522A>G (p.Lys174=)
c.474A>G (p.Lys158=)
n.803A>G
c.501A>G (p.Lys167=)
n.836A>G
 dbSNP COSMIC COSMIC
1g.237377381A>TCA345375606RYR2c.522A>T (p.Lys174Asn)
c.474A>T (p.Lys158Asn)
n.803A>T
c.501A>T (p.Lys167Asn)
n.836A>T
1g.237377382G>ACA345375609RYR2c.523G>A (p.Val175Ile)
c.475G>A (p.Val159Ile)
n.804G>A
c.502G>A (p.Val168Ile)
n.837G>A
1g.237377382G>CCA345375610RYR2c.523G>C (p.Val175Leu)
c.475G>C (p.Val159Leu)
n.804G>C
c.502G>C (p.Val168Leu)
n.837G>C
1g.237377382G>TCA345375612RYR2c.523G>T (p.Val175Leu)
c.475G>T (p.Val159Leu)
n.804G>T
c.502G>T (p.Val168Leu)
n.837G>T
1g.237377383T>ACA345375616RYR2c.524T>A (p.Val175Glu)
c.476T>A (p.Val159Glu)
n.805T>A
c.503T>A (p.Val168Glu)
n.838T>A
1g.237377383T>CCA345375618RYR2c.524T>C (p.Val175Ala)
c.476T>C (p.Val159Ala)
n.805T>C
c.503T>C (p.Val168Ala)
n.838T>C
1g.237377383T>GCA345375615RYR2c.524T>G (p.Val175Gly)
c.476T>G (p.Val159Gly)
n.805T>G
c.503T>G (p.Val168Gly)
n.838T>G
1g.237377384A=CA2487310781RYR2c.525A= (p.Val175=)
c.477A= (p.Val159=)
n.806A=
c.504A= (p.Val168=)
n.839A=
1g.237377384A>CCA423808724RYR2c.525A>C (p.Val175=)
c.477A>C (p.Val159=)
n.806A>C
c.504A>C (p.Val168=)
n.839A>C
1g.237377384A>GCA39774123RYR2c.525A>G (p.Val175=)
c.477A>G (p.Val159=)
n.806A>G
c.504A>G (p.Val168=)
n.839A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.237377384A>TCA423808725RYR2c.525A>T (p.Val175=)
c.477A>T (p.Val159=)
n.806A>T
c.504A>T (p.Val168=)
n.839A>T
1g.237377385C>ACA423808726RYR2c.526C>A (p.Arg176=)
c.478C>A (p.Arg160=)
n.807C>A
c.505C>A (p.Arg169=)
n.840C>A
1g.237377385C>GCA345375622RYR2c.526C>G (p.Arg176Gly)
c.478C>G (p.Arg160Gly)
n.807C>G
c.505C>G (p.Arg169Gly)
n.840C>G
1g.237377385C>TCA345375624RYR2c.526C>T (p.Arg176Ter)
c.478C>T (p.Arg160Ter)
n.807C>T
c.505C>T (p.Arg169Ter)
n.840C>T
 gnomAD v4 COSMIC COSMIC
1g.237377386G>ACA009819RYR2c.527G>A (p.Arg176Gln)
c.479G>A (p.Arg160Gln)
n.808G>A
c.506G>A (p.Arg169Gln)
n.841G>A
 ClinVar dbSNP COSMIC COSMIC
1g.237377386G>CCA345375627RYR2c.527G>C (p.Arg176Pro)
c.479G>C (p.Arg160Pro)
n.808G>C
c.506G>C (p.Arg169Pro)
n.841G>C
1g.237377386G=CA2487310782RYR2c.527G= (p.Arg176=)
c.479G= (p.Arg160=)
n.808G=
c.506G= (p.Arg169=)
n.841G=
1g.237377386G>TCA009824RYR2c.527G>T (p.Arg176Leu)
c.479G>T (p.Arg160Leu)
n.808G>T
c.506G>T (p.Arg169Leu)
n.841G>T
 ClinVar dbSNP
1g.237377387A>CCA423808727RYR2c.528A>C (p.Arg176=)
c.480A>C (p.Arg160=)
n.809A>C
c.507A>C (p.Arg169=)
n.842A>C
1g.237377387A>GCA423808728RYR2c.528A>G (p.Arg176=)
c.480A>G (p.Arg160=)
n.809A>G
c.507A>G (p.Arg169=)
n.842A>G
1g.237377387A>TCA423808729RYR2c.528A>T (p.Arg176=)
c.480A>T (p.Arg160=)
n.809A>T
c.507A>T (p.Arg169=)
n.842A>T
1g.237377388G>ACA345375631RYR2c.529G>A (p.Val177Ile)
c.481G>A (p.Val161Ile)
n.810G>A
c.508G>A (p.Val170Ile)
n.843G>A
1g.237377388G>CCA345375629RYR2c.529G>C (p.Val177Leu)
c.481G>C (p.Val161Leu)
n.810G>C
c.508G>C (p.Val170Leu)
n.843G>C
1g.237377388G>TCA073145RYR2c.529G>T (p.Val177Phe)
c.481G>T (p.Val161Phe)
n.810G>T
c.508G>T (p.Val170Phe)
n.843G>T
1g.237377389T>ACA345375634RYR2c.530T>A (p.Val177Asp)
c.482T>A (p.Val161Asp)
n.811T>A
c.509T>A (p.Val170Asp)
n.844T>A
1g.237377389T>CCA345375635RYR2c.530T>C (p.Val177Ala)
c.482T>C (p.Val161Ala)
n.811T>C
c.509T>C (p.Val170Ala)
n.844T>C
 gnomAD v4 COSMIC COSMIC
1g.237377389T>GCA345375638RYR2c.530T>G (p.Val177Gly)
c.482T>G (p.Val161Gly)
n.811T>G
c.509T>G (p.Val170Gly)
n.844T>G
 ClinVar dbSNP gnomAD v2
1g.237377389T=CA2487310783RYR2c.530T= (p.Val177=)
c.482T= (p.Val161=)
n.811T=
c.509T= (p.Val170=)
n.844T=
1g.237377390T>ACA423808730RYR2c.531T>A (p.Val177=)
c.483T>A (p.Val161=)
n.812T>A
c.510T>A (p.Val170=)
n.845T>A
1g.237377390T>CCA423808731RYR2c.531T>C (p.Val177=)
c.483T>C (p.Val161=)
n.812T>C
c.510T>C (p.Val170=)
n.845T>C
1g.237377390T>GCA423808732RYR2c.531T>G (p.Val177=)
c.483T>G (p.Val161=)
n.812T>G
c.510T>G (p.Val170=)
n.845T>G
1g.237377391G>ACA345375643RYR2c.532G>A (p.Gly178Arg)
c.484G>A (p.Gly162Arg)
n.813G>A
c.511G>A (p.Gly171Arg)
n.846G>A
1g.237377391G>CCA345375647RYR2c.532G>C (p.Gly178Arg)
c.484G>C (p.Gly162Arg)
n.813G>C
c.511G>C (p.Gly171Arg)
n.846G>C
1g.237377391G>TCA345375649RYR2c.532G>T (p.Gly178Ter)
c.484G>T (p.Gly162Ter)
n.813G>T
c.511G>T (p.Gly171Ter)
n.846G>T
1g.237377392G>ACA345375650RYR2c.533G>A (p.Gly178Glu)
c.485G>A (p.Gly162Glu)
n.814G>A
c.512G>A (p.Gly171Glu)
n.847G>A
1g.237377392G>CCA345375652RYR2c.533G>C (p.Gly178Ala)
c.485G>C (p.Gly162Ala)
n.814G>C
c.512G>C (p.Gly171Ala)
n.847G>C
1g.237377392G>TCA345375651RYR2c.533G>T (p.Gly178Val)
c.485G>T (p.Gly162Val)
n.814G>T
c.512G>T (p.Gly171Val)
n.847G>T
1g.237377393A>CCA423808735RYR2c.534A>C (p.Gly178=)
c.486A>C (p.Gly162=)
n.815A>C
c.513A>C (p.Gly171=)
n.848A>C
1g.237377393A>GCA423808733RYR2c.534A>G (p.Gly178=)
c.486A>G (p.Gly162=)
n.815A>G
c.513A>G (p.Gly171=)
n.848A>G
1g.237377393A>TCA423808734RYR2c.534A>T (p.Gly178=)
c.486A>T (p.Gly162=)
n.815A>T
c.513A>T (p.Gly171=)
n.848A>T
1g.237377394G>ACA009830RYR2c.535G>A (p.Asp179Asn)
c.487G>A (p.Asp163Asn)
n.816G>A
c.514G>A (p.Asp172Asn)
n.849G>A
 ClinVar dbSNP
1g.237377394G>CCA345375653RYR2c.535G>C (p.Asp179His)
c.487G>C (p.Asp163His)
n.816G>C
c.514G>C (p.Asp172His)
n.849G>C
1g.237377394G=CA2487310784RYR2c.535G= (p.Asp179=)
c.487G= (p.Asp163=)
n.816G=
c.514G= (p.Asp172=)
n.849G=
1g.237377394G>TCA345375654RYR2c.535G>T (p.Asp179Tyr)
c.487G>T (p.Asp163Tyr)
n.816G>T
c.514G>T (p.Asp172Tyr)
n.849G>T
1g.237377395A>CCA345375655RYR2c.536A>C (p.Asp179Ala)
c.488A>C (p.Asp163Ala)
n.817A>C
c.515A>C (p.Asp172Ala)
n.850A>C
1g.237377395A>GCA345375656RYR2c.536A>G (p.Asp179Gly)
c.488A>G (p.Asp163Gly)
n.817A>G
c.515A>G (p.Asp172Gly)
n.850A>G
1g.237377395A>TCA345375657RYR2c.536A>T (p.Asp179Val)
c.488A>T (p.Asp163Val)
n.817A>T
c.515A>T (p.Asp172Val)
n.850A>T
1g.237377396T>ACA345375658RYR2c.537T>A (p.Asp179Glu)
c.489T>A (p.Asp163Glu)
n.818T>A
c.516T>A (p.Asp172Glu)
n.851T>A
 ClinVar dbSNP
1g.237377396T>CCA423808736RYR2c.537T>C (p.Asp179=)
c.489T>C (p.Asp163=)
n.818T>C
c.516T>C (p.Asp172=)
n.851T>C
 dbSNP gnomAD v2 gnomAD v4
1g.237377396T>GCA345375659RYR2c.537T>G (p.Asp179Glu)
c.489T>G (p.Asp163Glu)
n.818T>G
c.516T>G (p.Asp172Glu)
n.851T>G
1g.237377396T=CA2487310785RYR2c.537T= (p.Asp179=)
c.489T= (p.Asp163=)
n.818T=
c.516T= (p.Asp172=)
n.851T=

Number of alleles fetched