Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38499076C=CA2335052569RYR1c.6892-32C= (n.6892-32C=)
c.6889-32C= (n.6889-32C=)
c.344-32C=
n.6975-32C=
19g.38499076C>TCA068901RYR1c.6892-32C>T (n.6892-32C>T)
c.6889-32C>T (n.6889-32C>T)
c.344-32C>T
n.6975-32C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499080T>GCA068898RYR1c.6892-28T>G (n.6892-28T>G)
c.6889-28T>G (n.6889-28T>G)
c.344-28T>G
n.6975-28T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499080T=CA2335052570RYR1c.6892-28T= (n.6892-28T=)
c.6889-28T= (n.6889-28T=)
c.344-28T=
n.6975-28T=
19g.38499081C=CA2335052571RYR1c.6892-27C= (n.6892-27C=)
c.6889-27C= (n.6889-27C=)
c.344-27C=
n.6975-27C=
19g.38499081C>GCA2335052572RYR1c.6892-27C>G (n.6892-27C>G)
c.6889-27C>G (n.6889-27C>G)
c.344-27C>G
n.6975-27C>G
 dbSNP
19g.38499082_38499086delinsTCTGACA2335052573RYR1c.6892-26_6892-22delinsTCTGA (n.6892-26_6892-22delinsTCTGA)
c.6889-26_6889-22delinsTCTGA (n.6889-26_6889-22delinsTCTGA)
c.344-26_344-22delinsTCTGA
n.6975-26_6975-22delinsTCTGA
19g.38499087_38499090delCA082261RYR1c.6892-21_6892-18del (n.6892-21_6892-18del)
c.6889-21_6889-18del (n.6889-21_6889-18del)
c.344-21_344-18del
n.6975-21_6975-18del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499085G>ACA068893RYR1c.6892-23G>A (n.6892-23G>A)
c.6889-23G>A (n.6889-23G>A)
c.344-23G>A
n.6975-23G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499085G=CA2335052574RYR1c.6892-23G= (n.6892-23G=)
c.6889-23G= (n.6889-23G=)
c.344-23G=
n.6975-23G=
19g.38499085G>TCA2584899828RYR1c.6892-23G>T (n.6892-23G>T)
c.6889-23G>T (n.6889-23G>T)
c.344-23G>T
n.6975-23G>T
 gnomAD v4
19g.38499087C=CA2335052575RYR1c.6892-21C= (n.6892-21C=)
c.6889-21C= (n.6889-21C=)
c.344-21C=
n.6975-21C=
19g.38499087C>GCA632874466RYR1c.6892-21C>G (n.6892-21C>G)
c.6889-21C>G (n.6889-21C>G)
c.344-21C>G
n.6975-21C>G
 dbSNP gnomAD v2 gnomAD v4
19g.38499087C>TCA308107181RYR1c.6892-21C>T (n.6892-21C>T)
c.6889-21C>T (n.6889-21C>T)
c.344-21C>T
n.6975-21C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499088_38499089delCA2573156304RYR1c.6892-20_6892-19del (n.6892-20_6892-19del)
c.6889-20_6889-19del (n.6889-20_6889-19del)
c.344-20_344-19del
n.6975-20_6975-19del
 ClinVar dbSNP
19g.38499089G>ACA068891RYR1c.6892-19G>A (n.6892-19G>A)
c.6889-19G>A (n.6889-19G>A)
c.344-19G>A
n.6975-19G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499089G=CA2335052576RYR1c.6892-19G= (n.6892-19G=)
c.6889-19G= (n.6889-19G=)
c.344-19G=
n.6975-19G=
19g.38499090A>GCA2736029506RYR1c.6892-18A>G (n.6892-18A>G)
c.6889-18A>G (n.6889-18A>G)
c.344-18A>G
n.6975-18A>G
 dbSNP
19g.38499091G>ACA2584899829RYR1c.6892-17G>A (n.6892-17G>A)
c.6889-17G>A (n.6889-17G>A)
c.344-17G>A
n.6975-17G>A
 gnomAD v4
19g.38499092C=CA2335052577RYR1c.6892-16C= (n.6892-16C=)
c.6889-16C= (n.6889-16C=)
c.344-16C=
n.6975-16C=
19g.38499092C>TCA632874469RYR1c.6892-16C>T (n.6892-16C>T)
c.6889-16C>T (n.6889-16C>T)
c.344-16C>T
n.6975-16C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38499093C>TCA2576771046RYR1c.6892-15C>T (n.6892-15C>T)
c.6889-15C>T (n.6889-15C>T)
c.344-15C>T
n.6975-15C>T
 gnomAD v4
19g.38499094C=CA2335052578RYR1c.6892-14C= (n.6892-14C=)
c.6889-14C= (n.6889-14C=)
c.344-14C=
n.6975-14C=
19g.38499094C>TCA10587317RYR1c.6892-14C>T (n.6892-14C>T)
c.6889-14C>T (n.6889-14C>T)
c.344-14C>T
n.6975-14C>T
 ClinVar dbSNP gnomAD v4
19g.38499095C=CA2335052579RYR1c.6892-13C= (n.6892-13C=)
c.6889-13C= (n.6889-13C=)
c.344-13C=
n.6975-13C=
19g.38499095C>TCA632874470RYR1c.6892-13C>T (n.6892-13C>T)
c.6889-13C>T (n.6889-13C>T)
c.344-13C>T
n.6975-13C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38499095_38499096delinsCTCA2335052580RYR1c.6892-13_6892-12delinsCT (n.6892-13_6892-12delinsCT)
c.6889-13_6889-12delinsCT (n.6889-13_6889-12delinsCT)
c.344-13_344-12delinsCT
n.6975-13_6975-12delinsCT
19g.38499097delCA632874471RYR1c.6892-11del (n.6892-11del)
c.6889-11del (n.6889-11del)
c.344-11del
n.6975-11del
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38499097T>CCA068887RYR1c.6892-11T>C (n.6892-11T>C)
c.6889-11T>C (n.6889-11T>C)
c.344-11T>C
n.6975-11T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499097T=CA2335052581RYR1c.6892-11T= (n.6892-11T=)
c.6889-11T= (n.6889-11T=)
c.344-11T=
n.6975-11T=
19g.38499098_38499099delCA2582145360RYR1c.6892-10_6892-9del (n.6892-10_6892-9del)
c.6889-10_6889-9del (n.6889-10_6889-9del)
c.344-10_344-9del
n.6975-10_6975-9del
 dbSNP gnomAD v3 gnomAD v4
19g.38499098C>ACA308107205RYR1c.6892-10C>A (n.6892-10C>A)
c.6889-10C>A (n.6889-10C>A)
c.344-10C>A
n.6975-10C>A
 ClinVar dbSNP
19g.38499098C=CA2335052582RYR1c.6892-10C= (n.6892-10C=)
c.6889-10C= (n.6889-10C=)
c.344-10C=
n.6975-10C=
19g.38499098C>GCA2335052583RYR1c.6892-10C>G (n.6892-10C>G)
c.6889-10C>G (n.6889-10C>G)
c.344-10C>G
n.6975-10C>G
 dbSNP
19g.38499099T>CCA2335052585RYR1c.6892-9T>C (n.6892-9T>C)
c.6889-9T>C (n.6889-9T>C)
c.344-9T>C
n.6975-9T>C
 dbSNP
19g.38499099T=CA2335052584RYR1c.6892-9T= (n.6892-9T=)
c.6889-9T= (n.6889-9T=)
c.344-9T=
n.6975-9T=
19g.38499100G>ACA2335052587RYR1c.6892-8G>A (n.6892-8G>A)
c.6889-8G>A (n.6889-8G>A)
c.344-8G>A
n.6975-8G>A
 dbSNP gnomAD v4
19g.38499100G=CA2335052586RYR1c.6892-8G= (n.6892-8G=)
c.6889-8G= (n.6889-8G=)
c.344-8G=
n.6975-8G=
19g.38499101C>TCA2739276772RYR1c.6892-7C>T (n.6892-7C>T)
c.6889-7C>T (n.6889-7C>T)
c.344-7C>T
n.6975-7C>T
 ClinVar
19g.38499105delCA2576771047RYR1c.6892-3del (n.6892-3del)
c.6889-3del (n.6889-3del)
c.344-3del
n.6975-3del
19g.38499102C>ACA2584899830RYR1c.6892-6C>A (n.6892-6C>A)
c.6889-6C>A (n.6889-6C>A)
c.344-6C>A
n.6975-6C>A
 gnomAD v4
19g.38499102C=CA2335052588RYR1c.6892-6C= (n.6892-6C=)
c.6889-6C= (n.6889-6C=)
c.344-6C=
n.6975-6C=
19g.38499102C>GCA068907RYR1c.6892-6C>G (n.6892-6C>G)
c.6889-6C>G (n.6889-6C>G)
c.344-6C>G
n.6975-6C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499103C>TCA2697556567RYR1c.6892-5C>T (n.6892-5C>T)
c.6889-5C>T (n.6889-5C>T)
c.344-5C>T
n.6975-5C>T
 ClinVar
19g.38499104C>ACA2697556568RYR1c.6892-4C>A (n.6892-4C>A)
c.6889-4C>A (n.6889-4C>A)
c.344-4C>A
n.6975-4C>A
 ClinVar
19g.38499104C>TCA2584899831RYR1c.6892-4C>T (n.6892-4C>T)
c.6889-4C>T (n.6889-4C>T)
c.344-4C>T
n.6975-4C>T
 gnomAD v4
19g.38499105C>GCA082265RYR1c.6892-3C>G (n.6892-3C>G)
c.6889-3C>G (n.6889-3C>G)
c.344-3C>G
n.6975-3C>G
19g.38499105C>TCA2576771048RYR1c.6892-3C>T (n.6892-3C>T)
c.6889-3C>T (n.6889-3C>T)
c.344-3C>T
n.6975-3C>T
 gnomAD v4
19g.38499106delCA2584899832RYR1c.6892-2del (n.6892-2del)
c.6889-2del (n.6889-2del)
c.344-2del
n.6975-2del
 gnomAD v4
19g.38499106A=CA2335052589RYR1c.6892-2A= (n.6892-2A=)
c.6889-2A= (n.6889-2A=)
c.344-2A=
n.6975-2A=
19g.38499106A>CCA405667046RYR1c.6892-2A>C (n.6892-2A>C)
c.6889-2A>C (n.6889-2A>C)
c.344-2A>C
n.6975-2A>C
19g.38499106A>GCA405667048RYR1c.6892-2A>G (n.6892-2A>G)
c.6889-2A>G (n.6889-2A>G)
c.344-2A>G
n.6975-2A>G
 dbSNP
19g.38499106A>TCA405667050RYR1c.6892-2A>T (n.6892-2A>T)
c.6889-2A>T (n.6889-2A>T)
c.344-2A>T
n.6975-2A>T
19g.38499107G>ACA405667059RYR1c.6892-1G>A (n.6892-1G>A)
c.6889-1G>A (n.6889-1G>A)
c.344-1G>A
n.6975-1G>A
19g.38499107G>CCA405667052RYR1c.6892-1G>C (n.6892-1G>C)
c.6889-1G>C (n.6889-1G>C)
c.344-1G>C
n.6975-1G>C
19g.38499107G>TCA405667057RYR1c.6892-1G>T (n.6892-1G>T)
c.6889-1G>T (n.6889-1G>T)
c.344-1G>T
n.6975-1G>T
19g.38499108G>ACA068911RYR1c.6892G>A (p.Val2298Ile)
c.6889G>A (p.Val2297Ile)
c.344G>A
n.6975G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499108G>CCA405667062RYR1c.6892G>C (p.Val2298Leu)
c.6889G>C (p.Val2297Leu)
c.344G>C
n.6975G>C
19g.38499108G=CA2335052590RYR1c.6892G= (p.Val2298=)
c.6889G= (p.Val2297=)
c.344G=
n.6975G=
19g.38499108G>TCA405667064RYR1c.6892G>T (p.Val2298Phe)
c.6889G>T (p.Val2297Phe)
c.344G>T
n.6975G>T
19g.38499109T>ACA405667065RYR1c.6893T>A (p.Val2298Asp)
c.6890T>A (p.Val2297Asp)
c.345T>A
n.6976T>A
19g.38499109T>CCA405667067RYR1c.6893T>C (p.Val2298Ala)
c.6890T>C (p.Val2297Ala)
c.345T>C
n.6976T>C
19g.38499109T>GCA405667069RYR1c.6893T>G (p.Val2298Gly)
c.6890T>G (p.Val2297Gly)
c.345T>G
n.6976T>G
 gnomAD v4
19g.38499110T>ACA507243061RYR1c.6894T>A (p.Val2298=)
c.6891T>A (p.Val2297=)
c.346T>A
n.6977T>A
19g.38499110T>CCA507243062RYR1c.6894T>C (p.Val2298=)
c.6891T>C (p.Val2297=)
c.346T>C
n.6977T>C
19g.38499110T>GCA507243064RYR1c.6894T>G (p.Val2298=)
c.6891T>G (p.Val2297=)
c.346T>G
n.6977T>G
19g.38499111G>ACA082266RYR1c.6895G>A (p.Val2299Met)
c.6892G>A (p.Val2298Met)
c.347G>A
n.6978G>A
 dbSNP
19g.38499111G>CCA405667070RYR1c.6895G>C (p.Val2299Leu)
c.6892G>C (p.Val2298Leu)
c.347G>C
n.6978G>C
19g.38499111G=CA2335052591RYR1c.6895G= (p.Val2299=)
c.6892G= (p.Val2298=)
c.347G=
n.6978G=
19g.38499111G>TCA405667072RYR1c.6895G>T (p.Val2299Leu)
c.6892G>T (p.Val2298Leu)
c.347G>T
n.6978G>T
19g.38499112T>ACA405667074RYR1c.6896T>A (p.Val2299Glu)
c.6893T>A (p.Val2298Glu)
c.348T>A
n.6979T>A
19g.38499112T>CCA405667076RYR1c.6896T>C (p.Val2299Ala)
c.6893T>C (p.Val2298Ala)
c.348T>C
n.6979T>C
19g.38499112T>GCA405667078RYR1c.6896T>G (p.Val2299Gly)
c.6893T>G (p.Val2298Gly)
c.348T>G
n.6979T>G
19g.38499113G>ACA068915RYR1c.6897G>A (p.Val2299=)
c.6894G>A (p.Val2298=)
c.349G>A
n.6980G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499113G>CCA068918RYR1c.6897G>C (p.Val2299=)
c.6894G>C (p.Val2298=)
c.349G>C
n.6980G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499113G=CA2335052592RYR1c.6897G= (p.Val2299=)
c.6894G= (p.Val2298=)
c.349G=
n.6980G=
19g.38499113G>TCA082248RYR1c.6897G>T (p.Val2299=)
c.6894G>T (p.Val2298=)
c.349G>T
n.6980G>T
19g.38499114T>ACA405667081RYR1c.6898T>A (p.Ser2300Thr)
c.6895T>A (p.Ser2299Thr)
c.350T>A
n.6981T>A
19g.38499114T>CCA405667082RYR1c.6898T>C (p.Ser2300Pro)
c.6895T>C (p.Ser2299Pro)
c.350T>C
n.6981T>C
19g.38499114T>GCA405667083RYR1c.6898T>G (p.Ser2300Ala)
c.6895T>G (p.Ser2299Ala)
c.350T>G
n.6981T>G
19g.38499115C>ACA405667085RYR1c.6899C>A (p.Ser2300Tyr)
c.6896C>A (p.Ser2299Tyr)
c.351C>A
n.6982C>A
19g.38499115C>GCA405667087RYR1c.6899C>G (p.Ser2300Cys)
c.6896C>G (p.Ser2299Cys)
c.351C>G
n.6982C>G
19g.38499115C>TCA405667089RYR1c.6899C>T (p.Ser2300Phe)
c.6896C>T (p.Ser2299Phe)
c.351C>T
n.6982C>T
19g.38499116C>ACA507243074RYR1c.6900C>A (p.Ser2300=)
c.6897C>A (p.Ser2299=)
c.352C>A
n.6983C>A
19g.38499116C>GCA507243075RYR1c.6900C>G (p.Ser2300=)
c.6897C>G (p.Ser2299=)
c.352C>G
n.6983C>G
19g.38499116C>TCA507243077RYR1c.6900C>T (p.Ser2300=)
c.6897C>T (p.Ser2299=)
c.352C>T
n.6983C>T
19g.38499117T>ACA405667093RYR1c.6901T>A (p.Tyr2301Asn)
c.6898T>A (p.Tyr2300Asn)
c.353T>A
n.6984T>A
19g.38499117T>CCA405667096RYR1c.6901T>C (p.Tyr2301His)
c.6898T>C (p.Tyr2300His)
c.353T>C
n.6984T>C
19g.38499117T>GCA405667098RYR1c.6901T>G (p.Tyr2301Asp)
c.6898T>G (p.Tyr2300Asp)
c.353T>G
n.6984T>G
19g.38499118A=CA2335052593RYR1c.6902A= (p.Tyr2301=)
c.6899A= (p.Tyr2300=)
c.354A=
n.6985A=
19g.38499118A>CCA405667099RYR1c.6902A>C (p.Tyr2301Ser)
c.6899A>C (p.Tyr2300Ser)
c.354A>C
n.6985A>C
19g.38499118A>GCA405667101RYR1c.6902A>G (p.Tyr2301Cys)
c.6899A>G (p.Tyr2300Cys)
c.354A>G
n.6985A>G
 gnomAD v4
19g.38499118A>TCA405667103RYR1c.6902A>T (p.Tyr2301Phe)
c.6899A>T (p.Tyr2300Phe)
c.354A>T
n.6985A>T
 dbSNP gnomAD v3 gnomAD v4
19g.38499119C>ACA405667106RYR1c.6903C>A (p.Tyr2301Ter)
c.6900C>A (p.Tyr2300Ter)
c.355C>A
n.6986C>A
19g.38499119C=CA2335052594RYR1c.6903C= (p.Tyr2301=)
c.6900C= (p.Tyr2300=)
c.355C=
n.6986C=
19g.38499119C>GCA405667104RYR1c.6903C>G (p.Tyr2301Ter)
c.6900C>G (p.Tyr2300Ter)
c.355C>G
n.6986C>G
19g.38499119C>TCA068920RYR1c.6903C>T (p.Tyr2301=)
c.6900C>T (p.Tyr2300=)
c.355C>T
n.6986C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499120C>ACA405667108RYR1c.6904C>A (p.Leu2302Met)
c.6901C>A (p.Leu2301Met)
c.356C>A
n.6987C>A
19g.38499120C=CA2335052595RYR1c.6904C= (p.Leu2302=)
c.6901C= (p.Leu2301=)
c.356C=
n.6987C=
19g.38499120C>GCA405667109RYR1c.6904C>G (p.Leu2302Val)
c.6901C>G (p.Leu2301Val)
c.356C>G
n.6987C>G
19g.38499120C>TCA10603865RYR1c.6904C>T (p.Leu2302=)
c.6901C>T (p.Leu2301=)
c.356C>T
n.6987C>T
 ClinVar dbSNP
19g.38499121T>ACA405667112RYR1c.6905T>A (p.Leu2302Gln)
c.6902T>A (p.Leu2301Gln)
c.357T>A
n.6988T>A
19g.38499121T>CCA405667113RYR1c.6905T>C (p.Leu2302Pro)
c.6902T>C (p.Leu2301Pro)
c.357T>C
n.6988T>C
19g.38499121T>GCA405667114RYR1c.6905T>G (p.Leu2302Arg)
c.6902T>G (p.Leu2301Arg)
c.357T>G
n.6988T>G
 gnomAD v4
19g.38499121dupCA082241RYR1c.6905dup (p.Ala2303GlyfsTer?)
c.6902dup (p.Ala2302GlyfsTer?)
c.357dup
n.6988dup
19g.38499122G>ACA507243089RYR1c.6906G>A (p.Leu2302=)
c.6903G>A (p.Leu2301=)
c.358G>A
n.6989G>A
19g.38499122G>CCA507243090RYR1c.6906G>C (p.Leu2302=)
c.6903G>C (p.Leu2301=)
c.358G>C
n.6989G>C
 ClinVar
19g.38499122G>TCA507243091RYR1c.6906G>T (p.Leu2302=)
c.6903G>T (p.Leu2301=)
c.358G>T
n.6989G>T
 gnomAD v4
19g.38499123G>ACA405667117RYR1c.6907G>A (p.Ala2303Thr)
c.6904G>A (p.Ala2302Thr)
c.359G>A
n.6990G>A
19g.38499123G>CCA405667118RYR1c.6907G>C (p.Ala2303Pro)
c.6904G>C (p.Ala2302Pro)
c.359G>C
n.6990G>C
19g.38499123G>TCA405667120RYR1c.6907G>T (p.Ala2303Ser)
c.6904G>T (p.Ala2302Ser)
c.359G>T
n.6990G>T
 gnomAD v4
19g.38499124C>ACA405667121RYR1c.6908C>A (p.Ala2303Glu)
c.6905C>A (p.Ala2302Glu)
c.360C>A
n.6991C>A
19g.38499124C=CA2335052596RYR1c.6908C= (p.Ala2303=)
c.6905C= (p.Ala2302=)
c.360C=
n.6991C=
19g.38499124C>GCA405667123RYR1c.6908C>G (p.Ala2303Gly)
c.6905C>G (p.Ala2302Gly)
c.360C>G
n.6991C>G
19g.38499124C>TCA308107247RYR1c.6908C>T (p.Ala2303Val)
c.6905C>T (p.Ala2302Val)
c.360C>T
n.6991C>T
 dbSNP gnomAD v4
19g.38499125A>CCA507243096RYR1c.6909A>C (p.Ala2303=)
c.6906A>C (p.Ala2302=)
c.361A>C
n.6992A>C
19g.38499125A>GCA507243098RYR1c.6909A>G (p.Ala2303=)
c.6906A>G (p.Ala2302=)
c.361A>G
n.6992A>G
19g.38499125A>TCA507243095RYR1c.6909A>T (p.Ala2303=)
c.6906A>T (p.Ala2302=)
c.361A>T
n.6992A>T
19g.38499126G>ACA068924RYR1c.6910G>A (p.Gly2304Ser)
c.6907G>A (p.Gly2303Ser)
c.362G>A
n.6993G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499126G>CCA405667127RYR1c.6910G>C (p.Gly2304Arg)
c.6907G>C (p.Gly2303Arg)
c.362G>C
n.6993G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38499126G=CA2335052597RYR1c.6910G= (p.Gly2304=)
c.6907G= (p.Gly2303=)
c.362G=
n.6993G=
19g.38499126G>TCA405667126RYR1c.6910G>T (p.Gly2304Cys)
c.6907G>T (p.Gly2303Cys)
c.362G>T
n.6993G>T
19g.38499126_38499127insTCA082243RYR1c.6910_6911insT (p.Gly2304ValfsTer?)
c.6907_6908insT (p.Gly2303ValfsTer?)
c.362_363insT
n.6993_6994insT
19g.38499127G>ACA405667130RYR1c.6911G>A (p.Gly2304Asp)
c.6908G>A (p.Gly2303Asp)
c.363G>A
n.6994G>A
19g.38499127G>CCA068925RYR1c.6911G>C (p.Gly2304Ala)
c.6908G>C (p.Gly2303Ala)
c.363G>C
n.6994G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38499127G=CA2335052598RYR1c.6911G= (p.Gly2304=)
c.6908G= (p.Gly2303=)
c.363G=
n.6994G=
19g.38499127G>TCA405667131RYR1c.6911G>T (p.Gly2304Val)
c.6908G>T (p.Gly2303Val)
c.363G>T
n.6994G>T
19g.38499128C>ACA507243106RYR1c.6912C>A (p.Gly2304=)
c.6909C>A (p.Gly2303=)
c.364C>A
n.6995C>A
19g.38499128C>GCA507243107RYR1c.6912C>G (p.Gly2304=)
c.6909C>G (p.Gly2303=)
c.364C>G
n.6995C>G
 ClinVar
19g.38499128C>TCA507243108RYR1c.6912C>T (p.Gly2304=)
c.6909C>T (p.Gly2303=)
c.364C>T
n.6995C>T
19g.38499129T>ACA405667132RYR1c.6913T>A (p.Cys2305Ser)
c.6910T>A (p.Cys2304Ser)
c.365T>A
n.6996T>A
19g.38499129T>CCA405667133RYR1c.6913T>C (p.Cys2305Arg)
c.6910T>C (p.Cys2304Arg)
c.365T>C
n.6996T>C
19g.38499129T>GCA405667135RYR1c.6913T>G (p.Cys2305Gly)
c.6910T>G (p.Cys2304Gly)
c.365T>G
n.6996T>G
19g.38499130G>ACA405667136RYR1c.6914G>A (p.Cys2305Tyr)
c.6911G>A (p.Cys2304Tyr)
c.366G>A
n.6997G>A
19g.38499130G>CCA082270RYR1c.6914G>C (p.Cys2305Ser)
c.6911G>C (p.Cys2304Ser)
c.366G>C
n.6997G>C
 ClinVar gnomAD v4
19g.38499130G>TCA405667138RYR1c.6914G>T (p.Cys2305Phe)
c.6911G>T (p.Cys2304Phe)
c.366G>T
n.6997G>T
19g.38499131T>ACA405667140RYR1c.6915T>A (p.Cys2305Ter)
c.6912T>A (p.Cys2304Ter)
c.367T>A
n.6998T>A
19g.38499131T>CCA507243115RYR1c.6915T>C (p.Cys2305=)
c.6912T>C (p.Cys2304=)
c.367T>C
n.6998T>C
19g.38499131T>GCA405667141RYR1c.6915T>G (p.Cys2305Trp)
c.6912T>G (p.Cys2304Trp)
c.367T>G
n.6998T>G
 dbSNP
19g.38499132G>ACA405667142RYR1c.6916G>A (p.Gly2306Ser)
c.6913G>A (p.Gly2305Ser)
c.368G>A
n.6999G>A
19g.38499132G>CCA405667144RYR1c.6916G>C (p.Gly2306Arg)
c.6913G>C (p.Gly2305Arg)
c.368G>C
n.6999G>C
19g.38499132G>TCA405667146RYR1c.6916G>T (p.Gly2306Cys)
c.6913G>T (p.Gly2305Cys)
c.368G>T
n.6999G>T
19g.38499133G>ACA405667151RYR1c.6917G>A (p.Gly2306Asp)
c.6914G>A (p.Gly2305Asp)
c.369G>A
n.7000G>A
19g.38499133G>CCA405667149RYR1c.6917G>C (p.Gly2306Ala)
c.6914G>C (p.Gly2305Ala)
c.369G>C
n.7000G>C
19g.38499133G>TCA405667148RYR1c.6917G>T (p.Gly2306Val)
c.6914G>T (p.Gly2305Val)
c.369G>T
n.7000G>T
19g.38499134C>ACA507243122RYR1c.6918C>A (p.Gly2306=)
c.6915C>A (p.Gly2305=)
c.370C>A
n.7001C>A
19g.38499134C>GCA507243124RYR1c.6918C>G (p.Gly2306=)
c.6915C>G (p.Gly2305=)
c.370C>G
n.7001C>G
19g.38499134C>TCA507243126RYR1c.6918C>T (p.Gly2306=)
c.6915C>T (p.Gly2305=)
c.370C>T
n.7001C>T
19g.38499135C>ACA405667153RYR1c.6919C>A (p.Leu2307Ile)
c.6916C>A (p.Leu2306Ile)
c.371C>A
n.7002C>A
19g.38499135C>GCA405667154RYR1c.6919C>G (p.Leu2307Val)
c.6916C>G (p.Leu2306Val)
c.371C>G
n.7002C>G
19g.38499135C>TCA405667156RYR1c.6919C>T (p.Leu2307Phe)
c.6916C>T (p.Leu2306Phe)
c.371C>T
n.7002C>T
 gnomAD v4
19g.38499136T>ACA405667157RYR1c.6920T>A (p.Leu2307His)
c.6917T>A (p.Leu2306His)
c.372T>A
n.7003T>A
19g.38499136T>CCA405667159RYR1c.6920T>C (p.Leu2307Pro)
c.6917T>C (p.Leu2306Pro)
c.372T>C
n.7003T>C
19g.38499136T>GCA405667161RYR1c.6920T>G (p.Leu2307Arg)
c.6917T>G (p.Leu2306Arg)
c.372T>G
n.7003T>G
19g.38499137C>ACA507243133RYR1c.6921C>A (p.Leu2307=)
c.6918C>A (p.Leu2306=)
c.373C>A
n.7004C>A
19g.38499137C=CA2335052599RYR1c.6921C= (p.Leu2307=)
c.6918C= (p.Leu2306=)
c.373C=
n.7004C=
19g.38499137C>GCA068928RYR1c.6921C>G (p.Leu2307=)
c.6918C>G (p.Leu2306=)
c.373C>G
n.7004C>G
 ClinVar dbSNP ExAC gnomAD v2
19g.38499137C>TCA507243134RYR1c.6921C>T (p.Leu2307=)
c.6918C>T (p.Leu2306=)
c.373C>T
n.7004C>T
19g.38499138C>ACA405667163RYR1c.6922C>A (p.Gln2308Lys)
c.6919C>A (p.Gln2307Lys)
c.374C>A
n.7005C>A
19g.38499138C>GCA405667164RYR1c.6922C>G (p.Gln2308Glu)
c.6919C>G (p.Gln2307Glu)
c.374C>G
n.7005C>G
19g.38499138C>TCA405667166RYR1c.6922C>T (p.Gln2308Ter)
c.6919C>T (p.Gln2307Ter)
c.374C>T
n.7005C>T
19g.38499139A>CCA405667168RYR1c.6923A>C (p.Gln2308Pro)
c.6920A>C (p.Gln2307Pro)
c.375A>C
n.7006A>C
19g.38499139A>GCA405667169RYR1c.6923A>G (p.Gln2308Arg)
c.6920A>G (p.Gln2307Arg)
c.375A>G
n.7006A>G
19g.38499139A>TCA405667171RYR1c.6923A>T (p.Gln2308Leu)
c.6920A>T (p.Gln2307Leu)
c.375A>T
n.7006A>T
 ClinVar
19g.38499140G>ACA507243141RYR1c.6924G>A (p.Gln2308=)
c.6921G>A (p.Gln2307=)
c.376G>A
n.7007G>A
19g.38499140G>CCA405667174RYR1c.6924G>C (p.Gln2308His)
c.6921G>C (p.Gln2307His)
c.376G>C
n.7007G>C
19g.38499140G>TCA405667173RYR1c.6924G>T (p.Gln2308His)
c.6921G>T (p.Gln2307His)
c.376G>T
n.7007G>T
19g.38499141A>CCA405667177RYR1c.6925A>C (p.Ser2309Arg)
c.6922A>C (p.Ser2308Arg)
c.377A>C
n.7008A>C
19g.38499141A>GCA405667179RYR1c.6925A>G (p.Ser2309Gly)
c.6922A>G (p.Ser2308Gly)
c.377A>G
n.7008A>G
19g.38499141A>TCA405667180RYR1c.6925A>T (p.Ser2309Cys)
c.6922A>T (p.Ser2308Cys)
c.377A>T
n.7008A>T
19g.38499142G>ACA405667182RYR1c.6926G>A (p.Ser2309Asn)
c.6923G>A (p.Ser2308Asn)
c.378G>A
n.7009G>A
 ClinVar dbSNP gnomAD v4
19g.38499142G>CCA405667183RYR1c.6926G>C (p.Ser2309Thr)
c.6923G>C (p.Ser2308Thr)
c.378G>C
n.7009G>C
19g.38499142G>TCA405667184RYR1c.6926G>T (p.Ser2309Ile)
c.6923G>T (p.Ser2308Ile)
c.378G>T
n.7009G>T
19g.38499143C>ACA405667185RYR1c.6927C>A (p.Ser2309Arg)
c.6924C>A (p.Ser2308Arg)
c.379C>A
n.7010C>A
19g.38499143C>GCA405667187RYR1c.6927C>G (p.Ser2309Arg)
c.6924C>G (p.Ser2308Arg)
c.379C>G
n.7010C>G
19g.38499143C>TCA507243147RYR1c.6927C>T (p.Ser2309=)
c.6924C>T (p.Ser2308=)
c.379C>T
n.7010C>T
19g.38499144T>ACA405667188RYR1c.6928T>A (p.Cys2310Ser)
c.6925T>A (p.Cys2309Ser)
c.380T>A
n.7011T>A
19g.38499144T>CCA405667190RYR1c.6928T>C (p.Cys2310Arg)
c.6925T>C (p.Cys2309Arg)
c.380T>C
n.7011T>C
 dbSNP
19g.38499144T>GCA405667191RYR1c.6928T>G (p.Cys2310Gly)
c.6925T>G (p.Cys2309Gly)
c.380T>G
n.7011T>G
19g.38499144T=CA2335052601RYR1c.6928T= (p.Cys2310=)
c.6925T= (p.Cys2309=)
c.380T=
n.7011T=
19g.38499144_38499145delinsTGCA2335052600RYR1c.6928_6929delinsTG (p.Cys2310=)
c.6925_6926delinsTG (p.Cys2309=)
c.380_381delinsTG
n.7011_7012delinsTG
19g.38499145delCA2335052602RYR1c.6929del (p.Cys2310SerfsTer?)
c.6926del (p.Cys2309SerfsTer?)
c.381del
n.7012del
 dbSNP
19g.38499145G>ACA405667193RYR1c.6929G>A (p.Cys2310Tyr)
c.6926G>A (p.Cys2309Tyr)
c.381G>A
n.7012G>A
19g.38499145G>CCA405667195RYR1c.6929G>C (p.Cys2310Ser)
c.6926G>C (p.Cys2309Ser)
c.381G>C
n.7012G>C
19g.38499145G=CA2335052603RYR1c.6929G= (p.Cys2310=)
c.6926G= (p.Cys2309=)
c.381G=
n.7012G=
19g.38499145G>TCA405667196RYR1c.6929G>T (p.Cys2310Phe)
c.6926G>T (p.Cys2309Phe)
c.381G>T
n.7012G>T
 COSMIC
19g.38499146C>ACA405667198RYR1c.6930C>A (p.Cys2310Ter)
c.6927C>A (p.Cys2309Ter)
c.382C>A
n.7013C>A
19g.38499146C>GCA405667200RYR1c.6930C>G (p.Cys2310Trp)
c.6927C>G (p.Cys2309Trp)
c.382C>G
n.7013C>G
 COSMIC
19g.38499146C>TCA507243150RYR1c.6930C>T (p.Cys2310=)
c.6927C>T (p.Cys2309=)
c.382C>T
n.7013C>T
19g.38499149dupCA916082460RYR1c.6933dup (p.Met2312HisfsTer?)
c.6930dup (p.Met2311HisfsTer?)
c.385dup
n.7016dup
 ClinVar dbSNP
19g.38499149delCA2695228664RYR1c.6933del (p.Met2312CysfsTer?)
c.6930del (p.Met2311CysfsTer?)
c.385del
n.7016del
19g.38499147C>ACA405667202RYR1c.6931C>A (p.Pro2311Thr)
c.6928C>A (p.Pro2310Thr)
c.383C>A
n.7014C>A
19g.38499147C>GCA405667203RYR1c.6931C>G (p.Pro2311Ala)
c.6928C>G (p.Pro2310Ala)
c.383C>G
n.7014C>G
19g.38499147C>TCA405667205RYR1c.6931C>T (p.Pro2311Ser)
c.6928C>T (p.Pro2310Ser)
c.383C>T
n.7014C>T
19g.38499148C>ACA405667206RYR1c.6932C>A (p.Pro2311His)
c.6929C>A (p.Pro2310His)
c.384C>A
n.7015C>A
19g.38499148C=CA2335052604RYR1c.6932C= (p.Pro2311=)
c.6929C= (p.Pro2310=)
c.384C=
n.7015C=
19g.38499148C>GCA405667208RYR1c.6932C>G (p.Pro2311Arg)
c.6929C>G (p.Pro2310Arg)
c.384C>G
n.7015C>G
 ClinVar
19g.38499148C>TCA068933RYR1c.6932C>T (p.Pro2311Leu)
c.6929C>T (p.Pro2310Leu)
c.384C>T
n.7015C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38499149C>ACA507243154RYR1c.6933C>A (p.Pro2311=)
c.6930C>A (p.Pro2310=)
c.385C>A
n.7016C>A
19g.38499149C=CA2335052605RYR1c.6933C= (p.Pro2311=)
c.6930C= (p.Pro2310=)
c.385C=
n.7016C=
19g.38499149C>GCA507243153RYR1c.6933C>G (p.Pro2311=)
c.6930C>G (p.Pro2310=)
c.385C>G
n.7016C>G
19g.38499149C>TCA507243152RYR1c.6933C>T (p.Pro2311=)
c.6930C>T (p.Pro2310=)
c.385C>T
n.7016C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38499150A>CCA405667210RYR1c.6934A>C (p.Met2312Leu)
c.6931A>C (p.Met2311Leu)
c.386A>C
n.7017A>C
19g.38499150A>GCA405667211RYR1c.6934A>G (p.Met2312Val)
c.6931A>G (p.Met2311Val)
c.386A>G
n.7017A>G
19g.38499150A>TCA405667212RYR1c.6934A>T (p.Met2312Leu)
c.6931A>T (p.Met2311Leu)
c.386A>T
n.7017A>T
19g.38499151T>ACA405667214RYR1c.6935T>A (p.Met2312Lys)
c.6932T>A (p.Met2311Lys)
c.387T>A
n.7018T>A
19g.38499151T>CCA405667215RYR1c.6935T>C (p.Met2312Thr)
c.6932T>C (p.Met2311Thr)
c.387T>C
n.7018T>C
19g.38499151T>GCA405667217RYR1c.6935T>G (p.Met2312Arg)
c.6932T>G (p.Met2311Arg)
c.387T>G
n.7018T>G
19g.38499153_38499156delCA2576771049RYR1c.6937_6940del (p.Leu2313TrpfsTer?)
c.6934_6937del (p.Leu2312TrpfsTer?)
c.389_392del
n.7020_7023del
19g.38499152G>ACA405667221RYR1c.6936G>A (p.Met2312Ile)
c.6933G>A (p.Met2311Ile)
c.388G>A
n.7019G>A
 dbSNP gnomAD v2 gnomAD v4
19g.38499152G>CCA405667220RYR1c.6936G>C (p.Met2312Ile)
c.6933G>C (p.Met2311Ile)
c.388G>C
n.7019G>C
19g.38499152G=CA2335052606RYR1c.6936G= (p.Met2312=)
c.6933G= (p.Met2311=)
c.388G=
n.7019G=
19g.38499152G>TCA405667218RYR1c.6936G>T (p.Met2312Ile)
c.6933G>T (p.Met2311Ile)
c.388G>T
n.7019G>T
19g.38499153C>ACA405667223RYR1c.6937C>A (p.Leu2313Ile)
c.6934C>A (p.Leu2312Ile)
c.389C>A
n.7020C>A
 dbSNP gnomAD v3 gnomAD v4
19g.38499153C=CA2335052607RYR1c.6937C= (p.Leu2313=)
c.6934C= (p.Leu2312=)
c.389C=
n.7020C=
19g.38499153C>GCA082249RYR1c.6937C>G (p.Leu2313Val)
c.6934C>G (p.Leu2312Val)
c.389C>G
n.7020C>G
19g.38499153C>TCA082250RYR1c.6937C>T (p.Leu2313Phe)
c.6934C>T (p.Leu2312Phe)
c.389C>T
n.7020C>T
19g.38499154T>ACA405667224RYR1c.6938T>A (p.Leu2313His)
c.6935T>A (p.Leu2312His)
c.390T>A
n.7021T>A
19g.38499154T>CCA405667225RYR1c.6938T>C (p.Leu2313Pro)
c.6935T>C (p.Leu2312Pro)
c.390T>C
n.7021T>C
19g.38499154T>GCA405667226RYR1c.6938T>G (p.Leu2313Arg)
c.6935T>G (p.Leu2312Arg)
c.390T>G
n.7021T>G
 ClinVar
19g.38499155T>ACA507243160RYR1c.6939T>A (p.Leu2313=)
c.6936T>A (p.Leu2312=)
c.391T>A
n.7022T>A
19g.38499155T>CCA507243162RYR1c.6939T>C (p.Leu2313=)
c.6936T>C (p.Leu2312=)
c.391T>C
n.7022T>C
 ClinVar gnomAD v4
19g.38499155T>GCA507243163RYR1c.6939T>G (p.Leu2313=)
c.6936T>G (p.Leu2312=)
c.391T>G
n.7022T>G
19g.38499156G>ACA405667228RYR1c.6940G>A (p.Val2314Met)
c.6937G>A (p.Val2313Met)
c.392G>A
n.7023G>A
 gnomAD v4
19g.38499156G>CCA405667229RYR1c.6940G>C (p.Val2314Leu)
c.6937G>C (p.Val2313Leu)
c.392G>C
n.7023G>C
19g.38499156G>TCA405667230RYR1c.6940G>T (p.Val2314Leu)
c.6937G>T (p.Val2313Leu)
c.392G>T
n.7023G>T
19g.38499157T>ACA405667232RYR1c.6941T>A (p.Val2314Glu)
c.6938T>A (p.Val2313Glu)
c.393T>A
n.7024T>A
19g.38499157T>CCA405667234RYR1c.6941T>C (p.Val2314Ala)
c.6938T>C (p.Val2313Ala)
c.393T>C
n.7024T>C
19g.38499157T>GCA405667236RYR1c.6941T>G (p.Val2314Gly)
c.6938T>G (p.Val2313Gly)
c.393T>G
n.7024T>G
19g.38499158G>ACA507243164RYR1c.6942G>A (p.Val2314=)
c.6939G>A (p.Val2313=)
c.394G>A
n.7025G>A
 ClinVar dbSNP gnomAD v4
19g.38499158G>CCA507243166RYR1c.6942G>C (p.Val2314=)
c.6939G>C (p.Val2313=)
c.394G>C
n.7025G>C
19g.38499158G=CA2335052608RYR1c.6942G= (p.Val2314=)
c.6939G= (p.Val2313=)
c.394G=
n.7025G=
19g.38499158G>TCA507243167RYR1c.6942G>T (p.Val2314=)
c.6939G>T (p.Val2313=)
c.394G>T
n.7025G>T
19g.38499159G>ACA082255RYR1c.6943G>A (p.Ala2315Thr)
c.6940G>A (p.Ala2314Thr)
c.395G>A
n.7026G>A
 COSMIC
19g.38499159G>CCA405667237RYR1c.6943G>C (p.Ala2315Pro)
c.6940G>C (p.Ala2314Pro)
c.395G>C
n.7026G>C
19g.38499159G>TCA405667239RYR1c.6943G>T (p.Ala2315Ser)
c.6940G>T (p.Ala2314Ser)
c.395G>T
n.7026G>T
19g.38499160C>ACA405667244RYR1c.6944C>A (p.Ala2315Asp)
c.6941C>A (p.Ala2314Asp)
c.396C>A
n.7027C>A
19g.38499160C=CA2335052609RYR1c.6944C= (p.Ala2315=)
c.6941C= (p.Ala2314=)
c.396C=
n.7027C=
19g.38499160C>GCA405667241RYR1c.6944C>G (p.Ala2315Gly)
c.6941C>G (p.Ala2314Gly)
c.396C>G
n.7027C>G
19g.38499160C>TCA405667242RYR1c.6944C>T (p.Ala2315Val)
c.6941C>T (p.Ala2314Val)
c.396C>T
n.7027C>T
 ClinVar dbSNP gnomAD v4
19g.38499161C>ACA507243168RYR1c.6945C>A (p.Ala2315=)
c.6942C>A (p.Ala2314=)
c.397C>A
n.7028C>A
19g.38499161C>GCA507243169RYR1c.6945C>G (p.Ala2315=)
c.6942C>G (p.Ala2314=)
c.397C>G
n.7028C>G
19g.38499161C>TCA507243170RYR1c.6945C>T (p.Ala2315=)
c.6942C>T (p.Ala2314=)
c.397C>T
n.7028C>T
19g.38499162A=CA2335052610RYR1c.6946A= (p.Lys2316=)
c.6943A= (p.Lys2315=)
c.398A=
n.7029A=
19g.38499162A>CCA405667246RYR1c.6946A>C (p.Lys2316Gln)
c.6943A>C (p.Lys2315Gln)
c.398A>C
n.7029A>C
19g.38499162A>GCA082256RYR1c.6946A>G (p.Lys2316Glu)
c.6943A>G (p.Lys2315Glu)
c.398A>G
n.7029A>G
 dbSNP
19g.38499162A>TCA405667248RYR1c.6946A>T (p.Lys2316Ter)
c.6943A>T (p.Lys2315Ter)
c.398A>T
n.7029A>T
19g.38499164dupCA2584899833RYR1c.6948dup (p.Gly2317ArgfsTer?)
c.6945dup (p.Gly2316ArgfsTer?)
c.400dup
n.7031dup
 ClinVar gnomAD v4
19g.38499163A>CCA405667249RYR1c.6947A>C (p.Lys2316Thr)
c.6944A>C (p.Lys2315Thr)
c.399A>C
n.7030A>C
19g.38499163A>GCA405667250RYR1c.6947A>G (p.Lys2316Arg)
c.6944A>G (p.Lys2315Arg)
c.399A>G
n.7030A>G
 ClinVar
19g.38499163A>TCA405667251RYR1c.6947A>T (p.Lys2316Ile)
c.6944A>T (p.Lys2315Ile)
c.399A>T
n.7030A>T
19g.38499164A>CCA405667253RYR1c.6948A>C (p.Lys2316Asn)
c.6945A>C (p.Lys2315Asn)
c.400A>C
n.7031A>C
19g.38499164A>GCA507243172RYR1c.6948A>G (p.Lys2316=)
c.6945A>G (p.Lys2315=)
c.400A>G
n.7031A>G
19g.38499164A>TCA405667255RYR1c.6948A>T (p.Lys2316Asn)
c.6945A>T (p.Lys2315Asn)
c.400A>T
n.7031A>T
19g.38499165G>ACA405667256RYR1c.6949G>A (p.Gly2317Arg)
c.6946G>A (p.Gly2316Arg)
c.401G>A
n.7032G>A
19g.38499165G>CCA405667258RYR1c.6949G>C (p.Gly2317Arg)
c.6946G>C (p.Gly2316Arg)
c.401G>C
n.7032G>C
 dbSNP gnomAD v2 gnomAD v4
19g.38499165G=CA2335052611RYR1c.6949G= (p.Gly2317=)
c.6946G= (p.Gly2316=)
c.401G=
n.7032G=
19g.38499165G>TCA405667259RYR1c.6949G>T (p.Gly2317Trp)
c.6946G>T (p.Gly2316Trp)
c.401G>T
n.7032G>T
19g.38499166G>ACA068937RYR1c.6950G>A (p.Gly2317Glu)
c.6947G>A (p.Gly2316Glu)
c.402G>A
n.7033G>A
 dbSNP ExAC gnomAD v2
19g.38499166G>CCA405667263RYR1c.6950G>C (p.Gly2317Ala)
c.6947G>C (p.Gly2316Ala)
c.402G>C
n.7033G>C
19g.38499166G=CA2335052612RYR1c.6950G= (p.Gly2317=)
c.6947G= (p.Gly2316=)
c.402G=
n.7033G=
19g.38499166G>TCA405667261RYR1c.6950G>T (p.Gly2317Val)
c.6947G>T (p.Gly2316Val)
c.402G>T
n.7033G>T
19g.38499166_38499168dupCA2584899834RYR1c.6950_6952dup (p.Gly2317_Tyr2318insTrp)
c.6947_6949dup (p.Gly2316_Tyr2317insTrp)
c.402_404dup
n.7033_7035dup
 gnomAD v4
19g.38499167G>ACA507243174RYR1c.6951G>A (p.Gly2317=)
c.6948G>A (p.Gly2316=)
c.403G>A
n.7034G>A
 ClinVar gnomAD v4
19g.38499167G>CCA507243175RYR1c.6951G>C (p.Gly2317=)
c.6948G>C (p.Gly2316=)
c.403G>C
n.7034G>C
19g.38499167G>TCA507243173RYR1c.6951G>T (p.Gly2317=)
c.6948G>T (p.Gly2316=)
c.403G>T
n.7034G>T
 ClinVar
19g.38499168T>ACA405667265RYR1c.6952T>A (p.Tyr2318Asn)
c.6949T>A (p.Tyr2317Asn)
c.404T>A
n.7035T>A
19g.38499168T>CCA405667266RYR1c.6952T>C (p.Tyr2318His)
c.6949T>C (p.Tyr2317His)
c.404T>C
n.7035T>C
 ClinVar gnomAD v4
19g.38499168T>GCA405667268RYR1c.6952T>G (p.Tyr2318Asp)
c.6949T>G (p.Tyr2317Asp)
c.404T>G
n.7035T>G
19g.38499169A>CCA405667270RYR1c.6953A>C (p.Tyr2318Ser)
c.6950A>C (p.Tyr2317Ser)
c.405A>C
n.7036A>C
19g.38499169A>GCA405667271RYR1c.6953A>G (p.Tyr2318Cys)
c.6950A>G (p.Tyr2317Cys)
c.405A>G
n.7036A>G
19g.38499169A>TCA405667272RYR1c.6953A>T (p.Tyr2318Phe)
c.6950A>T (p.Tyr2317Phe)
c.405A>T
n.7036A>T
19g.38499170C>ACA405667276RYR1c.6954C>A (p.Tyr2318Ter)
c.6951C>A (p.Tyr2317Ter)
c.406C>A
n.7037C>A
19g.38499170C=CA2335052613RYR1c.6954C= (p.Tyr2318=)
c.6951C= (p.Tyr2317=)
c.406C=
n.7037C=
19g.38499170C>GCA405667274RYR1c.6954C>G (p.Tyr2318Ter)
c.6951C>G (p.Tyr2317Ter)
c.406C>G
n.7037C>G
19g.38499170C>TCA507243177RYR1c.6954C>T (p.Tyr2318=)
c.6951C>T (p.Tyr2317=)
c.406C>T
n.7037C>T
 dbSNP gnomAD v2 gnomAD v4
19g.38499171C>ACA405667278RYR1c.6955C>A (p.Pro2319Thr)
c.6952C>A (p.Pro2318Thr)
c.407C>A
n.7038C>A
19g.38499171C=CA2335052614RYR1c.6955C= (p.Pro2319=)
c.6952C= (p.Pro2318=)
c.407C=
n.7038C=
19g.38499171C>GCA405667279RYR1c.6955C>G (p.Pro2319Ala)
c.6952C>G (p.Pro2318Ala)
c.407C>G
n.7038C>G
19g.38499171C>TCA405667281RYR1c.6955C>T (p.Pro2319Ser)
c.6952C>T (p.Pro2318Ser)
c.407C>T
n.7038C>T
 dbSNP gnomAD v4 COSMIC
19g.38499172C>ACA405667283RYR1c.6956C>A (p.Pro2319Gln)
c.6953C>A (p.Pro2318Gln)
c.408C>A
n.7039C>A
19g.38499172C>GCA405667284RYR1c.6956C>G (p.Pro2319Arg)
c.6953C>G (p.Pro2318Arg)
c.408C>G
n.7039C>G
19g.38499172C>TCA405667286RYR1c.6956C>T (p.Pro2319Leu)
c.6953C>T (p.Pro2318Leu)
c.408C>T
n.7039C>T
19g.38499173A>CCA507243178RYR1c.6957A>C (p.Pro2319=)
c.6954A>C (p.Pro2318=)
c.409A>C
n.7040A>C
 gnomAD v4
19g.38499173A>GCA507243180RYR1c.6957A>G (p.Pro2319=)
c.6954A>G (p.Pro2318=)
c.409A>G
n.7040A>G
19g.38499173A>TCA507243179RYR1c.6957A>T (p.Pro2319=)
c.6954A>T (p.Pro2318=)
c.409A>T
n.7040A>T
19g.38499174G>ACA405667288RYR1c.6958G>A (p.Asp2320Asn)
c.6955G>A (p.Asp2319Asn)
c.410G>A
n.7041G>A
19g.38499174G>CCA405667290RYR1c.6958G>C (p.Asp2320His)
c.6955G>C (p.Asp2319His)
c.410G>C
n.7041G>C
19g.38499174G>TCA405667289RYR1c.6958G>T (p.Asp2320Tyr)
c.6955G>T (p.Asp2319Tyr)
c.410G>T
n.7041G>T
19g.38499175A=CA2335052615RYR1c.6959A= (p.Asp2320=)
c.6956A= (p.Asp2319=)
c.411A=
n.7042A=
19g.38499175A>CCA405667292RYR1c.6959A>C (p.Asp2320Ala)
c.6956A>C (p.Asp2319Ala)
c.411A>C
n.7042A>C
19g.38499175A>GCA068941RYR1c.6959A>G (p.Asp2320Gly)
c.6956A>G (p.Asp2319Gly)
c.411A>G
n.7042A>G
 dbSNP ExAC gnomAD v2
19g.38499175A>TCA405667295RYR1c.6959A>T (p.Asp2320Val)
c.6956A>T (p.Asp2319Val)
c.411A>T
n.7042A>T
19g.38499176C>ACA405667296RYR1c.6960C>A (p.Asp2320Glu)
c.6957C>A (p.Asp2319Glu)
c.412C>A
n.7043C>A
19g.38499176C=CA2335052616RYR1c.6960C= (p.Asp2320=)
c.6957C= (p.Asp2319=)
c.412C=
n.7043C=
19g.38499176C>GCA405667297RYR1c.6960C>G (p.Asp2320Glu)
c.6957C>G (p.Asp2319Glu)
c.412C>G
n.7043C>G
19g.38499176C>TCA507243181RYR1c.6960C>T (p.Asp2320=)
c.6957C>T (p.Asp2319=)
c.412C>T
n.7043C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched