Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38506452_38506453delCA2584902223RYR1c.8617-19_8617-18del (n.8617-19_8617-18del)
c.8614-19_8614-18del (n.8614-19_8614-18del)
c.2069-19_2069-18del
n.8700-19_8700-18del
 gnomAD v4
19g.38506452_38506454delinsACTCA2335056656RYR1c.8617-19_8617-17delinsACT (n.8617-19_8617-17delinsACT)
c.8614-19_8614-17delinsACT (n.8614-19_8614-17delinsACT)
c.2069-19_2069-17delinsACT
n.8700-19_8700-17delinsACT
19g.38506453C=CA2335056657RYR1c.8617-18C= (n.8617-18C=)
c.8614-18C= (n.8614-18C=)
c.2069-18C=
n.8700-18C=
19g.38506453C>GCA072427RYR1c.8617-18C>G (n.8617-18C>G)
c.8614-18C>G (n.8614-18C>G)
c.2069-18C>G
n.8700-18C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38506453C>TCA2335056658RYR1c.8617-18C>T (n.8617-18C>T)
c.8614-18C>T (n.8614-18C>T)
c.2069-18C>T
n.8700-18C>T
 ClinVar dbSNP
19g.38506455_38506456delCA072423RYR1c.8617-16_8617-15del (n.8617-16_8617-15del)
c.8614-16_8614-15del (n.8614-16_8614-15del)
c.2069-16_2069-15del
n.8700-16_8700-15del
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38506454T>CCA308118475RYR1c.8617-17T>C (n.8617-17T>C)
c.8614-17T>C (n.8614-17T>C)
c.2069-17T>C
n.8700-17T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38506454T=CA2335056659RYR1c.8617-17T= (n.8617-17T=)
c.8614-17T= (n.8614-17T=)
c.2069-17T=
n.8700-17T=
19g.38506455C>ACA2584902224RYR1c.8617-16C>A (n.8617-16C>A)
c.8614-16C>A (n.8614-16C>A)
c.2069-16C>A
n.8700-16C>A
 gnomAD v4
19g.38506455C=CA2335056660RYR1c.8617-16C= (n.8617-16C=)
c.8614-16C= (n.8614-16C=)
c.2069-16C=
n.8700-16C=
19g.38506455C>TCA308118492RYR1c.8617-16C>T (n.8617-16C>T)
c.8614-16C>T (n.8614-16C>T)
c.2069-16C>T
n.8700-16C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38506457G>ACA2576771310RYR1c.8617-14G>A (n.8617-14G>A)
c.8614-14G>A (n.8614-14G>A)
c.2069-14G>A
n.8700-14G>A
19g.38506458C>GCA2576771312RYR1c.8617-13C>G (n.8617-13C>G)
c.8614-13C>G (n.8614-13C>G)
c.2069-13C>G
n.8700-13C>G
19g.38506459A>CCA2584902225RYR1c.8617-12A>C (n.8617-12A>C)
c.8614-12A>C (n.8614-12A>C)
c.2069-12A>C
n.8700-12A>C
 gnomAD v4
19g.38506459A>GCA2573156312RYR1c.8617-12A>G (n.8617-12A>G)
c.8614-12A>G (n.8614-12A>G)
c.2069-12A>G
n.8700-12A>G
 ClinVar dbSNP gnomAD v4
19g.38506461C>GCA2584902226RYR1c.8617-10C>G (n.8617-10C>G)
c.8614-10C>G (n.8614-10C>G)
c.2069-10C>G
n.8700-10C>G
 gnomAD v4
19g.38506461C>TCA2576771314RYR1c.8617-10C>T (n.8617-10C>T)
c.8614-10C>T (n.8614-10C>T)
c.2069-10C>T
n.8700-10C>T
19g.38506462C>ACA2584902227RYR1c.8617-9C>A (n.8617-9C>A)
c.8614-9C>A (n.8614-9C>A)
c.2069-9C>A
n.8700-9C>A
 gnomAD v4
19g.38506462C=CA2335056661RYR1c.8617-9C= (n.8617-9C=)
c.8614-9C= (n.8614-9C=)
c.2069-9C=
n.8700-9C=
19g.38506462C>TCA507245316RYR1c.8617-9C>T (n.8617-9C>T)
c.8614-9C>T (n.8614-9C>T)
c.2069-9C>T
n.8700-9C>T
 ClinVar dbSNP gnomAD v4
19g.38506466C=CA2335056662RYR1c.8617-5C= (n.8617-5C=)
c.8614-5C= (n.8614-5C=)
c.2069-5C=
n.8700-5C=
19g.38506466C>GCA2576771317RYR1c.8617-5C>G (n.8617-5C>G)
c.8614-5C>G (n.8614-5C>G)
c.2069-5C>G
n.8700-5C>G
19g.38506466C>TCA308118500RYR1c.8617-5C>T (n.8617-5C>T)
c.8614-5C>T (n.8614-5C>T)
c.2069-5C>T
n.8700-5C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38506468dupCA2576771316RYR1c.8617-3dup (n.8617-3dup)
c.8614-3dup (n.8614-3dup)
c.2069-3dup
n.8700-3dup
19g.38506467C=CA2335056663RYR1c.8617-4C= (n.8617-4C=)
c.8614-4C= (n.8614-4C=)
c.2069-4C=
n.8700-4C=
19g.38506467C>TCA2335056664RYR1c.8617-4C>T (n.8617-4C>T)
c.8614-4C>T (n.8614-4C>T)
c.2069-4C>T
n.8700-4C>T
 ClinVar dbSNP gnomAD v4
19g.38506468C>TCA2576771321RYR1c.8617-3C>T (n.8617-3C>T)
c.8614-3C>T (n.8614-3C>T)
c.2069-3C>T
n.8700-3C>T
 gnomAD v4
19g.38506469A>CCA405679665RYR1c.8617-2A>C (n.8617-2A>C)
c.8614-2A>C (n.8614-2A>C)
c.2069-2A>C
n.8700-2A>C
19g.38506469A>GCA405679667RYR1c.8617-2A>G (n.8617-2A>G)
c.8614-2A>G (n.8614-2A>G)
c.2069-2A>G
n.8700-2A>G
 ClinVar gnomAD v4
19g.38506469A>TCA405679669RYR1c.8617-2A>T (n.8617-2A>T)
c.8614-2A>T (n.8614-2A>T)
c.2069-2A>T
n.8700-2A>T
19g.38506470G>ACA405679676RYR1c.8617-1G>A (n.8617-1G>A)
c.8614-1G>A (n.8614-1G>A)
c.2069-1G>A
n.8700-1G>A
19g.38506470G>CCA405679679RYR1c.8617-1G>C (n.8617-1G>C)
c.8614-1G>C (n.8614-1G>C)
c.2069-1G>C
n.8700-1G>C
19g.38506470G>TCA405679694RYR1c.8617-1G>T (n.8617-1G>T)
c.8614-1G>T (n.8614-1G>T)
c.2069-1G>T
n.8700-1G>T
19g.38506471G>ACA072451RYR1c.8617G>A (p.Ala2873Thr)
c.8614G>A (p.Ala2872Thr)
c.2069G>A
n.8700G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38506471G>CCA405679698RYR1c.8617G>C (p.Ala2873Pro)
c.8614G>C (p.Ala2872Pro)
c.2069G>C
n.8700G>C
19g.38506471G=CA2335056665RYR1c.8617G= (p.Ala2873=)
c.8614G= (p.Ala2872=)
c.2069G=
n.8700G=
19g.38506471G>TCA405679696RYR1c.8617G>T (p.Ala2873Ser)
c.8614G>T (p.Ala2872Ser)
c.2069G>T
n.8700G>T
19g.38506472C>ACA405679701RYR1c.8618C>A (p.Ala2873Asp)
c.8615C>A (p.Ala2872Asp)
c.2070C>A
n.8701C>A
 COSMIC
19g.38506472C>GCA405679706RYR1c.8618C>G (p.Ala2873Gly)
c.8615C>G (p.Ala2872Gly)
c.2070C>G
n.8701C>G
19g.38506472C>TCA405679704RYR1c.8618C>T (p.Ala2873Val)
c.8615C>T (p.Ala2872Val)
c.2070C>T
n.8701C>T
19g.38506473C>ACA507245317RYR1c.8619C>A (p.Ala2873=)
c.8616C>A (p.Ala2872=)
c.2071C>A
n.8702C>A
19g.38506473C>GCA507245318RYR1c.8619C>G (p.Ala2873=)
c.8616C>G (p.Ala2872=)
c.2071C>G
n.8702C>G
19g.38506473C>TCA507245319RYR1c.8619C>T (p.Ala2873=)
c.8616C>T (p.Ala2872=)
c.2071C>T
n.8702C>T
 ClinVar dbSNP gnomAD v4 COSMIC
19g.38506474A>CCA405679708RYR1c.8620A>C (p.Met2874Leu)
c.8617A>C (p.Met2873Leu)
c.2072A>C
n.8703A>C
19g.38506474A>GCA405679712RYR1c.8620A>G (p.Met2874Val)
c.8617A>G (p.Met2873Val)
c.2072A>G
n.8703A>G
 gnomAD v4
19g.38506474A>TCA405679715RYR1c.8620A>T (p.Met2874Leu)
c.8617A>T (p.Met2873Leu)
c.2072A>T
n.8703A>T
19g.38506475T>ACA405679719RYR1c.8621T>A (p.Met2874Lys)
c.8618T>A (p.Met2873Lys)
c.2073T>A
n.8704T>A
19g.38506475T>CCA405679725RYR1c.8621T>C (p.Met2874Thr)
c.8618T>C (p.Met2873Thr)
c.2073T>C
n.8704T>C
19g.38506475T>GCA405679729RYR1c.8621T>G (p.Met2874Arg)
c.8618T>G (p.Met2873Arg)
c.2073T>G
n.8704T>G
19g.38506476G>ACA083482RYR1c.8622G>A (p.Met2874Ile)
c.8619G>A (p.Met2873Ile)
c.2074G>A
n.8705G>A
 gnomAD v4
19g.38506476G>CCA405679735RYR1c.8622G>C (p.Met2874Ile)
c.8619G>C (p.Met2873Ile)
c.2074G>C
n.8705G>C
19g.38506476G>TCA405679738RYR1c.8622G>T (p.Met2874Ile)
c.8619G>T (p.Met2873Ile)
c.2074G>T
n.8705G>T
19g.38506477G>ACA405679741RYR1c.8623G>A (p.Ala2875Thr)
c.8620G>A (p.Ala2874Thr)
c.2075G>A
n.8706G>A
 gnomAD v4
19g.38506477G>CCA405679743RYR1c.8623G>C (p.Ala2875Pro)
c.8620G>C (p.Ala2874Pro)
c.2075G>C
n.8706G>C
19g.38506477G>TCA405679748RYR1c.8623G>T (p.Ala2875Ser)
c.8620G>T (p.Ala2874Ser)
c.2075G>T
n.8706G>T
19g.38506478C>ACA405679760RYR1c.8624C>A (p.Ala2875Glu)
c.8621C>A (p.Ala2874Glu)
c.2076C>A
n.8707C>A
19g.38506478C>GCA405679751RYR1c.8624C>G (p.Ala2875Gly)
c.8621C>G (p.Ala2874Gly)
c.2076C>G
n.8707C>G
 gnomAD v4
19g.38506478C>TCA405679759RYR1c.8624C>T (p.Ala2875Val)
c.8621C>T (p.Ala2874Val)
c.2076C>T
n.8707C>T
19g.38506479A=CA2335056666RYR1c.8625A= (p.Ala2875=)
c.8622A= (p.Ala2874=)
c.2077A=
n.8708A=
19g.38506479A>CCA507245320RYR1c.8625A>C (p.Ala2875=)
c.8622A>C (p.Ala2874=)
c.2077A>C
n.8708A>C
19g.38506479A>GCA507245321RYR1c.8625A>G (p.Ala2875=)
c.8622A>G (p.Ala2874=)
c.2077A>G
n.8708A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38506479A>TCA507245322RYR1c.8625A>T (p.Ala2875=)
c.8622A>T (p.Ala2874=)
c.2077A>T
n.8708A>T
19g.38506480G>ACA083493RYR1c.8626G>A (p.Glu2876Lys)
c.8623G>A (p.Glu2875Lys)
c.2078G>A
n.8709G>A
 gnomAD v4
19g.38506480G>CCA405679763RYR1c.8626G>C (p.Glu2876Gln)
c.8623G>C (p.Glu2875Gln)
c.2078G>C
n.8709G>C
19g.38506480G>TCA405679768RYR1c.8626G>T (p.Glu2876Ter)
c.8623G>T (p.Glu2875Ter)
c.2078G>T
n.8709G>T
19g.38506481A>CCA405679770RYR1c.8627A>C (p.Glu2876Ala)
c.8624A>C (p.Glu2875Ala)
c.2079A>C
n.8710A>C
19g.38506481A>GCA405679772RYR1c.8627A>G (p.Glu2876Gly)
c.8624A>G (p.Glu2875Gly)
c.2079A>G
n.8710A>G
19g.38506481A>TCA405679775RYR1c.8627A>T (p.Glu2876Val)
c.8624A>T (p.Glu2875Val)
c.2079A>T
n.8710A>T
19g.38506482A>CCA405679780RYR1c.8628A>C (p.Glu2876Asp)
c.8625A>C (p.Glu2875Asp)
c.2080A>C
n.8711A>C
19g.38506482A>GCA507245324RYR1c.8628A>G (p.Glu2876=)
c.8625A>G (p.Glu2875=)
c.2080A>G
n.8711A>G
19g.38506482A>TCA405679782RYR1c.8628A>T (p.Glu2876Asp)
c.8625A>T (p.Glu2875Asp)
c.2080A>T
n.8711A>T
19g.38506483C>ACA405679784RYR1c.8629C>A (p.Gln2877Lys)
c.8626C>A (p.Gln2876Lys)
c.2081C>A
n.8712C>A
19g.38506483C>GCA405679789RYR1c.8629C>G (p.Gln2877Glu)
c.8626C>G (p.Gln2876Glu)
c.2081C>G
n.8712C>G
19g.38506483C>TCA083464RYR1c.8629C>T (p.Gln2877Ter)
c.8626C>T (p.Gln2876Ter)
c.2081C>T
n.8712C>T
19g.38506484A>CCA405679802RYR1c.8630A>C (p.Gln2877Pro)
c.8627A>C (p.Gln2876Pro)
c.2082A>C
n.8713A>C
19g.38506484A>GCA405679798RYR1c.8630A>G (p.Gln2877Arg)
c.8627A>G (p.Gln2876Arg)
c.2082A>G
n.8713A>G
19g.38506484A>TCA405679796RYR1c.8630A>T (p.Gln2877Leu)
c.8627A>T (p.Gln2876Leu)
c.2082A>T
n.8713A>T
19g.38506485A>CCA405679803RYR1c.8631A>C (p.Gln2877His)
c.8628A>C (p.Gln2876His)
c.2083A>C
n.8714A>C
19g.38506485A>GCA507245325RYR1c.8631A>G (p.Gln2877=)
c.8628A>G (p.Gln2876=)
c.2083A>G
n.8714A>G
 ClinVar
19g.38506485A>TCA405679807RYR1c.8631A>T (p.Gln2877His)
c.8628A>T (p.Gln2876His)
c.2083A>T
n.8714A>T
19g.38506486C>ACA405679812RYR1c.8632C>A (p.Leu2878Met)
c.8629C>A (p.Leu2877Met)
c.2084C>A
n.8715C>A
19g.38506486C>GCA405679813RYR1c.8632C>G (p.Leu2878Val)
c.8629C>G (p.Leu2877Val)
c.2084C>G
n.8715C>G
19g.38506486C>TCA507245326RYR1c.8632C>T (p.Leu2878=)
c.8629C>T (p.Leu2877=)
c.2084C>T
n.8715C>T
19g.38506487T>ACA405679826RYR1c.8633T>A (p.Leu2878Gln)
c.8630T>A (p.Leu2877Gln)
c.2085T>A
n.8716T>A
19g.38506487T>CCA405679830RYR1c.8633T>C (p.Leu2878Pro)
c.8630T>C (p.Leu2877Pro)
c.2085T>C
n.8716T>C
19g.38506487T>GCA405679831RYR1c.8633T>G (p.Leu2878Arg)
c.8630T>G (p.Leu2877Arg)
c.2085T>G
n.8716T>G
19g.38506488G>ACA507245327RYR1c.8634G>A (p.Leu2878=)
c.8631G>A (p.Leu2877=)
c.2086G>A
n.8717G>A
19g.38506488G>CCA507245329RYR1c.8634G>C (p.Leu2878=)
c.8631G>C (p.Leu2877=)
c.2086G>C
n.8717G>C
19g.38506488G>TCA507245328RYR1c.8634G>T (p.Leu2878=)
c.8631G>T (p.Leu2877=)
c.2086G>T
n.8717G>T
 gnomAD v4
19g.38506489G>ACA405679832RYR1c.8635G>A (p.Ala2879Thr)
c.8632G>A (p.Ala2878Thr)
c.2087G>A
n.8718G>A
19g.38506489G>CCA405679841RYR1c.8635G>C (p.Ala2879Pro)
c.8632G>C (p.Ala2878Pro)
c.2087G>C
n.8718G>C
19g.38506489G>TCA405679846RYR1c.8635G>T (p.Ala2879Ser)
c.8632G>T (p.Ala2878Ser)
c.2087G>T
n.8718G>T
19g.38506490C>ACA405679847RYR1c.8636C>A (p.Ala2879Glu)
c.8633C>A (p.Ala2878Glu)
c.2088C>A
n.8719C>A
19g.38506490C>GCA405679849RYR1c.8636C>G (p.Ala2879Gly)
c.8633C>G (p.Ala2878Gly)
c.2088C>G
n.8719C>G
19g.38506490C>TCA405679851RYR1c.8636C>T (p.Ala2879Val)
c.8633C>T (p.Ala2878Val)
c.2088C>T
n.8719C>T
19g.38506491A>CCA507245330RYR1c.8637A>C (p.Ala2879=)
c.8634A>C (p.Ala2878=)
c.2089A>C
n.8720A>C
19g.38506491A>GCA507245331RYR1c.8637A>G (p.Ala2879=)
c.8634A>G (p.Ala2878=)
c.2089A>G
n.8720A>G
 gnomAD v4
19g.38506491A>TCA507245332RYR1c.8637A>T (p.Ala2879=)
c.8634A>T (p.Ala2878=)
c.2089A>T
n.8720A>T
19g.38506492G>ACA024939RYR1c.8638G>A (p.Glu2880Lys)
c.8635G>A (p.Glu2879Lys)
c.2090G>A
n.8721G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38506492G>CCA405679853RYR1c.8638G>C (p.Glu2880Gln)
c.8635G>C (p.Glu2879Gln)
c.2090G>C
n.8721G>C
19g.38506492G=CA2335056667RYR1c.8638G= (p.Glu2880=)
c.8635G= (p.Glu2879=)
c.2090G=
n.8721G=
19g.38506492G>TCA405679859RYR1c.8638G>T (p.Glu2880Ter)
c.8635G>T (p.Glu2879Ter)
c.2090G>T
n.8721G>T
 COSMIC
19g.38506493A>CCA405679865RYR1c.8639A>C (p.Glu2880Ala)
c.8636A>C (p.Glu2879Ala)
c.2091A>C
n.8722A>C
19g.38506493A>GCA405679867RYR1c.8639A>G (p.Glu2880Gly)
c.8636A>G (p.Glu2879Gly)
c.2091A>G
n.8722A>G
19g.38506493A>TCA405679869RYR1c.8639A>T (p.Glu2880Val)
c.8636A>T (p.Glu2879Val)
c.2091A>T
n.8722A>T
19g.38506496dupCA645612182RYR1c.8642dup (p.Asn2881LysfsTer?)
c.8639dup (p.Asn2880LysfsTer?)
c.2094dup
n.8725dup
 COSMIC
19g.38506494A=CA2335056668RYR1c.8640A= (p.Glu2880=)
c.8637A= (p.Glu2879=)
c.2092A=
n.8723A=
19g.38506494A>CCA405679873RYR1c.8640A>C (p.Glu2880Asp)
c.8637A>C (p.Glu2879Asp)
c.2092A>C
n.8723A>C
19g.38506494A>GCA507245333RYR1c.8640A>G (p.Glu2880=)
c.8637A>G (p.Glu2879=)
c.2092A>G
n.8723A>G
 dbSNP
19g.38506494A>TCA405679883RYR1c.8640A>T (p.Glu2880Asp)
c.8637A>T (p.Glu2879Asp)
c.2092A>T
n.8723A>T
19g.38506495A>CCA405679887RYR1c.8641A>C (p.Asn2881His)
c.8638A>C (p.Asn2880His)
c.2093A>C
n.8724A>C
19g.38506495A>GCA405679893RYR1c.8641A>G (p.Asn2881Asp)
c.8638A>G (p.Asn2880Asp)
c.2093A>G
n.8724A>G
19g.38506495A>TCA405679896RYR1c.8641A>T (p.Asn2881Tyr)
c.8638A>T (p.Asn2880Tyr)
c.2093A>T
n.8724A>T
19g.38506496A>CCA405679899RYR1c.8642A>C (p.Asn2881Thr)
c.8639A>C (p.Asn2880Thr)
c.2094A>C
n.8725A>C
19g.38506496A>GCA405679903RYR1c.8642A>G (p.Asn2881Ser)
c.8639A>G (p.Asn2880Ser)
c.2094A>G
n.8725A>G
19g.38506496A>TCA405679906RYR1c.8642A>T (p.Asn2881Ile)
c.8639A>T (p.Asn2880Ile)
c.2094A>T
n.8725A>T
19g.38506497T>ACA405679911RYR1c.8643T>A (p.Asn2881Lys)
c.8640T>A (p.Asn2880Lys)
c.2095T>A
n.8726T>A
19g.38506497T>CCA507245334RYR1c.8643T>C (p.Asn2881=)
c.8640T>C (p.Asn2880=)
c.2095T>C
n.8726T>C
 ClinVar dbSNP
19g.38506497T>GCA405679915RYR1c.8643T>G (p.Asn2881Lys)
c.8640T>G (p.Asn2880Lys)
c.2095T>G
n.8726T>G
19g.38506497T=CA2335056669RYR1c.8643T= (p.Asn2881=)
c.8640T= (p.Asn2880=)
c.2095T=
n.8726T=
19g.38506498T>ACA405679919RYR1c.8644T>A (p.Tyr2882Asn)
c.8641T>A (p.Tyr2881Asn)
c.2096T>A
n.8727T>A
19g.38506498T>CCA405679926RYR1c.8644T>C (p.Tyr2882His)
c.8641T>C (p.Tyr2881His)
c.2096T>C
n.8727T>C
19g.38506498T>GCA405679918RYR1c.8644T>G (p.Tyr2882Asp)
c.8641T>G (p.Tyr2881Asp)
c.2096T>G
n.8727T>G
19g.38506499A>CCA405679930RYR1c.8645A>C (p.Tyr2882Ser)
c.8642A>C (p.Tyr2881Ser)
c.2097A>C
n.8728A>C
19g.38506499A>GCA405679939RYR1c.8645A>G (p.Tyr2882Cys)
c.8642A>G (p.Tyr2881Cys)
c.2097A>G
n.8728A>G
19g.38506499A>TCA405679936RYR1c.8645A>T (p.Tyr2882Phe)
c.8642A>T (p.Tyr2881Phe)
c.2097A>T
n.8728A>T
19g.38506500C>ACA405679943RYR1c.8646C>A (p.Tyr2882Ter)
c.8643C>A (p.Tyr2881Ter)
c.2098C>A
n.8729C>A
19g.38506500C>GCA405679950RYR1c.8646C>G (p.Tyr2882Ter)
c.8643C>G (p.Tyr2881Ter)
c.2098C>G
n.8729C>G
19g.38506500C>TCA507245335RYR1c.8646C>T (p.Tyr2882=)
c.8643C>T (p.Tyr2881=)
c.2098C>T
n.8729C>T
19g.38506501C>ACA405679953RYR1c.8647C>A (p.His2883Asn)
c.8644C>A (p.His2882Asn)
c.2099C>A
n.8730C>A
19g.38506501C>GCA405679959RYR1c.8647C>G (p.His2883Asp)
c.8644C>G (p.His2882Asp)
c.2099C>G
n.8730C>G
19g.38506501C>TCA405679956RYR1c.8647C>T (p.His2883Tyr)
c.8644C>T (p.His2882Tyr)
c.2099C>T
n.8730C>T
 gnomAD v4 COSMIC
19g.38506502A>CCA405679961RYR1c.8648A>C (p.His2883Pro)
c.8645A>C (p.His2882Pro)
c.2100A>C
n.8731A>C
19g.38506502A>GCA405679966RYR1c.8648A>G (p.His2883Arg)
c.8645A>G (p.His2882Arg)
c.2100A>G
n.8731A>G
19g.38506502A>TCA405679963RYR1c.8648A>T (p.His2883Leu)
c.8645A>T (p.His2882Leu)
c.2100A>T
n.8731A>T
19g.38506503C>ACA405679968RYR1c.8649C>A (p.His2883Gln)
c.8646C>A (p.His2882Gln)
c.2101C>A
n.8732C>A
19g.38506503C>GCA405679971RYR1c.8649C>G (p.His2883Gln)
c.8646C>G (p.His2882Gln)
c.2101C>G
n.8732C>G
19g.38506503C>TCA507245336RYR1c.8649C>T (p.His2883=)
c.8646C>T (p.His2882=)
c.2101C>T
n.8732C>T
19g.38506504A>CCA405679985RYR1c.8650A>C (p.Asn2884His)
c.8647A>C (p.Asn2883His)
c.2102A>C
n.8733A>C
19g.38506504A>GCA405679988RYR1c.8650A>G (p.Asn2884Asp)
c.8647A>G (p.Asn2883Asp)
c.2102A>G
n.8733A>G
19g.38506504A>TCA405679990RYR1c.8650A>T (p.Asn2884Tyr)
c.8647A>T (p.Asn2883Tyr)
c.2102A>T
n.8733A>T
19g.38506505A=CA2335056670RYR1c.8651A= (p.Asn2884=)
c.8648A= (p.Asn2883=)
c.2103A=
n.8734A=
19g.38506505A>CCA405679994RYR1c.8651A>C (p.Asn2884Thr)
c.8648A>C (p.Asn2883Thr)
c.2103A>C
n.8734A>C
19g.38506505A>GCA405679997RYR1c.8651A>G (p.Asn2884Ser)
c.8648A>G (p.Asn2883Ser)
c.2103A>G
n.8734A>G
 dbSNP gnomAD v4
19g.38506505A>TCA072456RYR1c.8651A>T (p.Asn2884Ile)
c.8648A>T (p.Asn2883Ile)
c.2103A>T
n.8734A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38506506C>ACA405680003RYR1c.8652C>A (p.Asn2884Lys)
c.8649C>A (p.Asn2883Lys)
c.2104C>A
n.8735C>A
19g.38506506C>GCA405680005RYR1c.8652C>G (p.Asn2884Lys)
c.8649C>G (p.Asn2883Lys)
c.2104C>G
n.8735C>G
19g.38506506C>TCA507245337RYR1c.8652C>T (p.Asn2884=)
c.8649C>T (p.Asn2883=)
c.2104C>T
n.8735C>T
 gnomAD v4
19g.38506507A>CCA405680023RYR1c.8653A>C (p.Thr2885Pro)
c.8650A>C (p.Thr2884Pro)
c.2105A>C
n.8736A>C
19g.38506507A>GCA405680032RYR1c.8653A>G (p.Thr2885Ala)
c.8650A>G (p.Thr2884Ala)
c.2105A>G
n.8736A>G
19g.38506507A>TCA405680036RYR1c.8653A>T (p.Thr2885Ser)
c.8650A>T (p.Thr2884Ser)
c.2105A>T
n.8736A>T
19g.38506508C>ACA405680055RYR1c.8654C>A (p.Thr2885Lys)
c.8651C>A (p.Thr2884Lys)
c.2106C>A
n.8737C>A
19g.38506508C=CA2335056671RYR1c.8654C= (p.Thr2885=)
c.8651C= (p.Thr2884=)
c.2106C=
n.8737C=
19g.38506508C>GCA405680045RYR1c.8654C>G (p.Thr2885Arg)
c.8651C>G (p.Thr2884Arg)
c.2106C>G
n.8737C>G
 ClinVar dbSNP gnomAD v4 COSMIC
19g.38506508C>TCA405680051RYR1c.8654C>T (p.Thr2885Met)
c.8651C>T (p.Thr2884Met)
c.2106C>T
n.8737C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38506509G>ACA083479RYR1c.8655G>A (p.Thr2885=)
c.8652G>A (p.Thr2884=)
c.2107G>A
n.8738G>A
 ClinVar dbSNP gnomAD v4
19g.38506509G>CCA507245339RYR1c.8655G>C (p.Thr2885=)
c.8652G>C (p.Thr2884=)
c.2107G>C
n.8738G>C
 ClinVar dbSNP gnomAD v4
19g.38506509G=CA2335056672RYR1c.8655G= (p.Thr2885=)
c.8652G= (p.Thr2884=)
c.2107G=
n.8738G=
19g.38506509G>TCA507245338RYR1c.8655G>T (p.Thr2885=)
c.8652G>T (p.Thr2884=)
c.2107G>T
n.8738G>T
19g.38506510T>ACA405680062RYR1c.8656T>A (p.Trp2886Arg)
c.8653T>A (p.Trp2885Arg)
c.2108T>A
n.8739T>A
19g.38506510T>CCA405680064RYR1c.8656T>C (p.Trp2886Arg)
c.8653T>C (p.Trp2885Arg)
c.2108T>C
n.8739T>C
19g.38506510T>GCA405680066RYR1c.8656T>G (p.Trp2886Gly)
c.8653T>G (p.Trp2885Gly)
c.2108T>G
n.8739T>G
19g.38506511G>ACA405680071RYR1c.8657G>A (p.Trp2886Ter)
c.8654G>A (p.Trp2885Ter)
c.2109G>A
n.8740G>A
 gnomAD v4
19g.38506511G>CCA405680074RYR1c.8657G>C (p.Trp2886Ser)
c.8654G>C (p.Trp2885Ser)
c.2109G>C
n.8740G>C
19g.38506511G>TCA405680089RYR1c.8657G>T (p.Trp2886Leu)
c.8654G>T (p.Trp2885Leu)
c.2109G>T
n.8740G>T
19g.38506512G>ACA405680090RYR1c.8658G>A (p.Trp2886Ter)
c.8655G>A (p.Trp2885Ter)
c.2110G>A
n.8741G>A
19g.38506512G>CCA405680091RYR1c.8658G>C (p.Trp2886Cys)
c.8655G>C (p.Trp2885Cys)
c.2110G>C
n.8741G>C
19g.38506512G>TCA405680094RYR1c.8658G>T (p.Trp2886Cys)
c.8655G>T (p.Trp2885Cys)
c.2110G>T
n.8741G>T
19g.38506513G>ACA405680097RYR1c.8659G>A (p.Gly2887Arg)
c.8656G>A (p.Gly2886Arg)
c.2111G>A
n.8742G>A
19g.38506513G>CCA405680098RYR1c.8659G>C (p.Gly2887Arg)
c.8656G>C (p.Gly2886Arg)
c.2111G>C
n.8742G>C
19g.38506513G>TCA405680101RYR1c.8659G>T (p.Gly2887Ter)
c.8656G>T (p.Gly2886Ter)
c.2111G>T
n.8742G>T
19g.38506514G>ACA405680103RYR1c.8660G>A (p.Gly2887Glu)
c.8657G>A (p.Gly2886Glu)
c.2112G>A
n.8743G>A
19g.38506514G>CCA405680118RYR1c.8660G>C (p.Gly2887Ala)
c.8657G>C (p.Gly2886Ala)
c.2112G>C
n.8743G>C
19g.38506514G>TCA405680115RYR1c.8660G>T (p.Gly2887Val)
c.8657G>T (p.Gly2886Val)
c.2112G>T
n.8743G>T
19g.38506515A>CCA507245340RYR1c.8661A>C (p.Gly2887=)
c.8658A>C (p.Gly2886=)
c.2113A>C
n.8744A>C
19g.38506515A>GCA507245341RYR1c.8661A>G (p.Gly2887=)
c.8658A>G (p.Gly2886=)
c.2113A>G
n.8744A>G
19g.38506515A>TCA507245342RYR1c.8661A>T (p.Gly2887=)
c.8658A>T (p.Gly2886=)
c.2113A>T
n.8744A>T
19g.38506516C>ACA507245343RYR1c.8662C>A (p.Arg2888=)
c.8659C>A (p.Arg2887=)
c.2114C>A
n.8745C>A
 dbSNP gnomAD v2 gnomAD v4
19g.38506516C=CA2335056673RYR1c.8662C= (p.Arg2888=)
c.8659C= (p.Arg2887=)
c.2114C=
n.8745C=
19g.38506516C>GCA405680122RYR1c.8662C>G (p.Arg2888Gly)
c.8659C>G (p.Arg2887Gly)
c.2114C>G
n.8745C>G
19g.38506516C>TCA405680123RYR1c.8662C>T (p.Arg2888Trp)
c.8659C>T (p.Arg2887Trp)
c.2114C>T
n.8745C>T
 ClinVar dbSNP gnomAD v4
19g.38506517G>ACA405680124RYR1c.8663G>A (p.Arg2888Gln)
c.8660G>A (p.Arg2887Gln)
c.2115G>A
n.8746G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38506517G>CCA405680125RYR1c.8663G>C (p.Arg2888Pro)
c.8660G>C (p.Arg2887Pro)
c.2115G>C
n.8746G>C
 gnomAD v4
19g.38506517G=CA2335056675RYR1c.8663G= (p.Arg2888=)
c.8660G= (p.Arg2887=)
c.2115G=
n.8746G=
19g.38506517G>TCA405680126RYR1c.8663G>T (p.Arg2888Leu)
c.8660G>T (p.Arg2887Leu)
c.2115G>T
n.8746G>T
19g.38506517_38506520delinsGGAACA2335056674RYR1c.8663_8666delinsGGAA (p.Arg2888=)
c.8660_8663delinsGGAA (p.Arg2887=)
c.2115_2118delinsGGAA
n.8746_8749delinsGGAA
19g.38506518G>ACA507245346RYR1c.8664G>A (p.Arg2888=)
c.8661G>A (p.Arg2887=)
c.2116G>A
n.8747G>A
19g.38506518G>CCA507245344RYR1c.8664G>C (p.Arg2888=)
c.8661G>C (p.Arg2887=)
c.2116G>C
n.8747G>C
19g.38506518G>TCA507245345RYR1c.8664G>T (p.Arg2888=)
c.8661G>T (p.Arg2887=)
c.2116G>T
n.8747G>T
19g.38506525_38506527delCA072457RYR1c.8671_8673del (p.Lys2891del)
c.8668_8670del (p.Lys2890del)
c.2123_2125del
n.8754_8756del
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38506519A=CA2335056676RYR1c.8665A= (p.Lys2889=)
c.8662A= (p.Lys2888=)
c.2117A=
n.8748A=
19g.38506519A>CCA405680133RYR1c.8665A>C (p.Lys2889Gln)
c.8662A>C (p.Lys2888Gln)
c.2117A>C
n.8748A>C
 dbSNP gnomAD v2 gnomAD v4
19g.38506519A>GCA405680137RYR1c.8665A>G (p.Lys2889Glu)
c.8662A>G (p.Lys2888Glu)
c.2117A>G
n.8748A>G
19g.38506519A>TCA405680139RYR1c.8665A>T (p.Lys2889Ter)
c.8662A>T (p.Lys2888Ter)
c.2117A>T
n.8748A>T
19g.38506520A=CA2335056677RYR1c.8666A= (p.Lys2889=)
c.8663A= (p.Lys2888=)
c.2118A=
n.8749A=
19g.38506520A>CCA405680142RYR1c.8666A>C (p.Lys2889Thr)
c.8663A>C (p.Lys2888Thr)
c.2118A>C
n.8749A>C
19g.38506520A>GCA405680144RYR1c.8666A>G (p.Lys2889Arg)
c.8663A>G (p.Lys2888Arg)
c.2118A>G
n.8749A>G
19g.38506520A>TCA405680149RYR1c.8666A>T (p.Lys2889Met)
c.8663A>T (p.Lys2888Met)
c.2118A>T
n.8749A>T
19g.38506521G>ACA507245347RYR1c.8667G>A (p.Lys2889=)
c.8664G>A (p.Lys2888=)
c.2119G>A
n.8750G>A
19g.38506521G>CCA405680156RYR1c.8667G>C (p.Lys2889Asn)
c.8664G>C (p.Lys2888Asn)
c.2119G>C
n.8750G>C
19g.38506521G>TCA405680160RYR1c.8667G>T (p.Lys2889Asn)
c.8664G>T (p.Lys2888Asn)
c.2119G>T
n.8750G>T
 gnomAD v4
19g.38506521dupCA658658811RYR1c.8667dup (p.Lys2890GlufsTer?)
c.8664dup (p.Lys2889GlufsTer?)
c.2119dup
n.8750dup
 ClinVar dbSNP
19g.38506522A>CCA405680166RYR1c.8668A>C (p.Lys2890Gln)
c.8665A>C (p.Lys2889Gln)
c.2120A>C
n.8751A>C
19g.38506522A>GCA405680181RYR1c.8668A>G (p.Lys2890Glu)
c.8665A>G (p.Lys2889Glu)
c.2120A>G
n.8751A>G
19g.38506522A>TCA405680199RYR1c.8668A>T (p.Lys2890Ter)
c.8665A>T (p.Lys2889Ter)
c.2120A>T
n.8751A>T
19g.38506523A>CCA405680203RYR1c.8669A>C (p.Lys2890Thr)
c.8666A>C (p.Lys2889Thr)
c.2121A>C
n.8752A>C
19g.38506523A>GCA405680204RYR1c.8669A>G (p.Lys2890Arg)
c.8666A>G (p.Lys2889Arg)
c.2121A>G
n.8752A>G
19g.38506523A>TCA405680205RYR1c.8669A>T (p.Lys2890Met)
c.8666A>T (p.Lys2889Met)
c.2121A>T
n.8752A>T
19g.38506524G>ACA507245348RYR1c.8670G>A (p.Lys2890=)
c.8667G>A (p.Lys2889=)
c.2122G>A
n.8753G>A
 gnomAD v4
19g.38506524G>CCA405680207RYR1c.8670G>C (p.Lys2890Asn)
c.8667G>C (p.Lys2889Asn)
c.2122G>C
n.8753G>C
19g.38506524G>TCA405680208RYR1c.8670G>T (p.Lys2890Asn)
c.8667G>T (p.Lys2889Asn)
c.2122G>T
n.8753G>T
19g.38506525A=CA2335056678RYR1c.8671A= (p.Lys2891=)
c.8668A= (p.Lys2890=)
c.2123A=
n.8754A=
19g.38506525A>CCA072462RYR1c.8671A>C (p.Lys2891Gln)
c.8668A>C (p.Lys2890Gln)
c.2123A>C
n.8754A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38506525A>GCA405680215RYR1c.8671A>G (p.Lys2891Glu)
c.8668A>G (p.Lys2890Glu)
c.2123A>G
n.8754A>G
19g.38506525A>TCA405680217RYR1c.8671A>T (p.Lys2891Ter)
c.8668A>T (p.Lys2890Ter)
c.2123A>T
n.8754A>T
19g.38506526A>CCA405680236RYR1c.8672A>C (p.Lys2891Thr)
c.8669A>C (p.Lys2890Thr)
c.2124A>C
n.8755A>C
19g.38506526A>GCA405680239RYR1c.8672A>G (p.Lys2891Arg)
c.8669A>G (p.Lys2890Arg)
c.2124A>G
n.8755A>G
19g.38506526A>TCA405680229RYR1c.8672A>T (p.Lys2891Met)
c.8669A>T (p.Lys2890Met)
c.2124A>T
n.8755A>T
19g.38506527G>ACA507245349RYR1c.8673G>A (p.Lys2891=)
c.8670G>A (p.Lys2890=)
c.2125G>A
n.8756G>A
 ClinVar
19g.38506527G>CCA405680251RYR1c.8673G>C (p.Lys2891Asn)
c.8670G>C (p.Lys2890Asn)
c.2125G>C
n.8756G>C
19g.38506527G>TCA405680242RYR1c.8673G>T (p.Lys2891Asn)
c.8670G>T (p.Lys2890Asn)
c.2125G>T
n.8756G>T
19g.38506528C>ACA308118554RYR1c.8674C>A (p.Gln2892Lys)
c.8671C>A (p.Gln2891Lys)
c.2126C>A
n.8757C>A
 dbSNP gnomAD v3 gnomAD v4
19g.38506528C=CA2335056679RYR1c.8674C= (p.Gln2892=)
c.8671C= (p.Gln2891=)
c.2126C=
n.8757C=
19g.38506528C>GCA405680258RYR1c.8674C>G (p.Gln2892Glu)
c.8671C>G (p.Gln2891Glu)
c.2126C>G
n.8757C>G
 gnomAD v4
19g.38506528C>TCA405680265RYR1c.8674C>T (p.Gln2892Ter)
c.8671C>T (p.Gln2891Ter)
c.2126C>T
n.8757C>T
19g.38506529A=CA2335056680RYR1c.8675A= (p.Gln2892=)
c.8672A= (p.Gln2891=)
c.2127A=
n.8758A=
19g.38506529A>CCA405680266RYR1c.8675A>C (p.Gln2892Pro)
c.8672A>C (p.Gln2891Pro)
c.2127A>C
n.8758A>C
19g.38506529A>GCA072467RYR1c.8675A>G (p.Gln2892Arg)
c.8672A>G (p.Gln2891Arg)
c.2127A>G
n.8758A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38506529A>TCA405680275RYR1c.8675A>T (p.Gln2892Leu)
c.8672A>T (p.Gln2891Leu)
c.2127A>T
n.8758A>T
19g.38506530G>ACA507245350RYR1c.8676G>A (p.Gln2892=)
c.8673G>A (p.Gln2891=)
c.2128G>A
n.8759G>A
19g.38506530G>CCA405680278RYR1c.8676G>C (p.Gln2892His)
c.8673G>C (p.Gln2891His)
c.2128G>C
n.8759G>C
19g.38506530G>TCA405680294RYR1c.8676G>T (p.Gln2892His)
c.8673G>T (p.Gln2891His)
c.2128G>T
n.8759G>T
19g.38506531G>ACA405680305RYR1c.8677G>A (p.Glu2893Lys)
c.8674G>A (p.Glu2892Lys)
c.2129G>A
n.8760G>A
19g.38506531G>CCA405680306RYR1c.8677G>C (p.Glu2893Gln)
c.8674G>C (p.Glu2892Gln)
c.2129G>C
n.8760G>C
19g.38506531G>TCA405680308RYR1c.8677G>T (p.Glu2893Ter)
c.8674G>T (p.Glu2892Ter)
c.2129G>T
n.8760G>T
19g.38506532A>CCA405680327RYR1c.8678A>C (p.Glu2893Ala)
c.8675A>C (p.Glu2892Ala)
c.2130A>C
n.8761A>C
19g.38506532A>GCA083522RYR1c.8678A>G (p.Glu2893Gly)
c.8675A>G (p.Glu2892Gly)
c.2130A>G
n.8761A>G
19g.38506532A>TCA405680314RYR1c.8678A>T (p.Glu2893Val)
c.8675A>T (p.Glu2892Val)
c.2130A>T
n.8761A>T
19g.38506533G>ACA507245351RYR1c.8679G>A (p.Glu2893=)
c.8676G>A (p.Glu2892=)
c.2131G>A
n.8762G>A
19g.38506533G>CCA405680331RYR1c.8679G>C (p.Glu2893Asp)
c.8676G>C (p.Glu2892Asp)
c.2131G>C
n.8762G>C
19g.38506533G>TCA405680333RYR1c.8679G>T (p.Glu2893Asp)
c.8676G>T (p.Glu2892Asp)
c.2131G>T
n.8762G>T
19g.38506534C>ACA405680339RYR1c.8680C>A (p.Leu2894Met)
c.8677C>A (p.Leu2893Met)
c.2132C>A
n.8763C>A
19g.38506534C>GCA405680342RYR1c.8680C>G (p.Leu2894Val)
c.8677C>G (p.Leu2893Val)
c.2132C>G
n.8763C>G
 gnomAD v4
19g.38506534C>TCA507245352RYR1c.8680C>T (p.Leu2894=)
c.8677C>T (p.Leu2893=)
c.2132C>T
n.8763C>T
19g.38506535T>ACA308118565RYR1c.8681T>A (p.Leu2894Gln)
c.8678T>A (p.Leu2893Gln)
c.2133T>A
n.8764T>A
 dbSNP
19g.38506535T>CCA405680349RYR1c.8681T>C (p.Leu2894Pro)
c.8678T>C (p.Leu2893Pro)
c.2133T>C
n.8764T>C
 gnomAD v4
19g.38506535T>GCA405680352RYR1c.8681T>G (p.Leu2894Arg)
c.8678T>G (p.Leu2893Arg)
c.2133T>G
n.8764T>G
19g.38506535T=CA2335056681RYR1c.8681T= (p.Leu2894=)
c.8678T= (p.Leu2893=)
c.2133T=
n.8764T=
19g.38506536G>ACA072472RYR1c.8682G>A (p.Leu2894=)
c.8679G>A (p.Leu2893=)
c.2134G>A
n.8765G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38506536G>CCA507245353RYR1c.8682G>C (p.Leu2894=)
c.8679G>C (p.Leu2893=)
c.2134G>C
n.8765G>C
19g.38506536G=CA2335056682RYR1c.8682G= (p.Leu2894=)
c.8679G= (p.Leu2893=)
c.2134G=
n.8765G=
19g.38506536G>TCA507245354RYR1c.8682G>T (p.Leu2894=)
c.8679G>T (p.Leu2893=)
c.2134G>T
n.8765G>T
19g.38506537G>ACA405680357RYR1c.8683G>A (p.Glu2895Lys)
c.8680G>A (p.Glu2894Lys)
c.2135G>A
n.8766G>A
 gnomAD v4
19g.38506537G>CCA405680366RYR1c.8683G>C (p.Glu2895Gln)
c.8680G>C (p.Glu2894Gln)
c.2135G>C
n.8766G>C
19g.38506537G>TCA405680374RYR1c.8683G>T (p.Glu2895Ter)
c.8680G>T (p.Glu2894Ter)
c.2135G>T
n.8766G>T
19g.38506538A>CCA405680381RYR1c.8684A>C (p.Glu2895Ala)
c.8681A>C (p.Glu2894Ala)
c.2136A>C
n.8767A>C
19g.38506538A>GCA405680383RYR1c.8684A>G (p.Glu2895Gly)
c.8681A>G (p.Glu2894Gly)
c.2136A>G
n.8767A>G
19g.38506538A>TCA405680377RYR1c.8684A>T (p.Glu2895Val)
c.8681A>T (p.Glu2894Val)
c.2136A>T
n.8767A>T
19g.38506539A>CCA405680387RYR1c.8685A>C (p.Glu2895Asp)
c.8682A>C (p.Glu2894Asp)
c.2137A>C
n.8768A>C
19g.38506539A>GCA507245355RYR1c.8685A>G (p.Glu2895=)
c.8682A>G (p.Glu2894=)
c.2137A>G
n.8768A>G
19g.38506539A>TCA405680392RYR1c.8685A>T (p.Glu2895Asp)
c.8682A>T (p.Glu2894Asp)
c.2137A>T
n.8768A>T
19g.38506540G>ACA10652418RYR1c.8686G>A (p.Ala2896Thr)
c.8683G>A (p.Ala2895Thr)
c.2138G>A
n.8769G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38506540G>CCA405680412RYR1c.8686G>C (p.Ala2896Pro)
c.8683G>C (p.Ala2895Pro)
c.2138G>C
n.8769G>C
19g.38506540G=CA2335056683RYR1c.8686G= (p.Ala2896=)
c.8683G= (p.Ala2895=)
c.2138G=
n.8769G=
19g.38506540G>TCA405680415RYR1c.8686G>T (p.Ala2896Ser)
c.8683G>T (p.Ala2895Ser)
c.2138G>T
n.8769G>T
19g.38506541C>ACA405680419RYR1c.8687C>A (p.Ala2896Asp)
c.8684C>A (p.Ala2895Asp)
c.2139C>A
n.8770C>A
 gnomAD v4
19g.38506541C=CA2335056684RYR1c.8687C= (p.Ala2896=)
c.8684C= (p.Ala2895=)
c.2139C=
n.8770C=
19g.38506541C>GCA405680421RYR1c.8687C>G (p.Ala2896Gly)
c.8684C>G (p.Ala2895Gly)
c.2139C>G
n.8770C>G
19g.38506541C>TCA405680424RYR1c.8687C>T (p.Ala2896Val)
c.8684C>T (p.Ala2895Val)
c.2139C>T
n.8770C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38506542C>ACA507245356RYR1c.8688C>A (p.Ala2896=)
c.8685C>A (p.Ala2895=)
c.2140C>A
n.8771C>A
19g.38506542C>GCA507245357RYR1c.8688C>G (p.Ala2896=)
c.8685C>G (p.Ala2895=)
c.2140C>G
n.8771C>G
19g.38506542C>TCA507245358RYR1c.8688C>T (p.Ala2896=)
c.8685C>T (p.Ala2895=)
c.2140C>T
n.8771C>T
19g.38506543A=CA2335056685RYR1c.8689A= (p.Lys2897=)
c.8686A= (p.Lys2896=)
c.2141A=
n.8772A=
19g.38506543A>CCA405680432RYR1c.8689A>C (p.Lys2897Gln)
c.8686A>C (p.Lys2896Gln)
c.2141A>C
n.8772A>C
19g.38506543A>GCA072479RYR1c.8689A>G (p.Lys2897Glu)
c.8686A>G (p.Lys2896Glu)
c.2141A>G
n.8772A>G
 dbSNP ExAC gnomAD v4
19g.38506543A>TCA405680436RYR1c.8689A>T (p.Lys2897Ter)
c.8686A>T (p.Lys2896Ter)
c.2141A>T
n.8772A>T
19g.38506544A>CCA405680438RYR1c.8690A>C (p.Lys2897Thr)
c.8687A>C (p.Lys2896Thr)
c.2142A>C
n.8773A>C
19g.38506544A>GCA405680443RYR1c.8690A>G (p.Lys2897Arg)
c.8687A>G (p.Lys2896Arg)
c.2142A>G
n.8773A>G
19g.38506544A>TCA405680446RYR1c.8690A>T (p.Lys2897Ile)
c.8687A>T (p.Lys2896Ile)
c.2142A>T
n.8773A>T
19g.38506545A>CCA405680448RYR1c.8691A>C (p.Lys2897Asn)
c.8688A>C (p.Lys2896Asn)
c.2143A>C
n.8774A>C
19g.38506545A>GCA507245359RYR1c.8691A>G (p.Lys2897=)
c.8688A>G (p.Lys2896=)
c.2143A>G
n.8774A>G
19g.38506545A>TCA405680450RYR1c.8691A>T (p.Lys2897Asn)
c.8688A>T (p.Lys2896Asn)
c.2143A>T
n.8774A>T
19g.38506546G>ACA405680468RYR1c.8692G>A (p.Gly2898Ser)
c.8689G>A (p.Gly2897Ser)
c.2144G>A
n.8775G>A
19g.38506546G>CCA405680471RYR1c.8692G>C (p.Gly2898Arg)
c.8689G>C (p.Gly2897Arg)
c.2144G>C
n.8775G>C
19g.38506546G>TCA405680479RYR1c.8692G>T (p.Gly2898Cys)
c.8689G>T (p.Gly2897Cys)
c.2144G>T
n.8775G>T
19g.38506547G>ACA405680482RYR1c.8692+1G>A (n.8692+1G>A)
c.8689+1G>A (n.8689+1G>A)
c.2144+1G>A
n.8775+1G>A
 gnomAD v4
19g.38506547G>CCA405680515RYR1c.8692+1G>C (n.8692+1G>C)
c.8689+1G>C (n.8689+1G>C)
c.2144+1G>C
n.8775+1G>C
 gnomAD v4
19g.38506547G=CA2335056686RYR1c.8692+1G= (n.8692+1G=)
c.8689+1G= (n.8689+1G=)
c.2144+1G=
n.8775+1G=
19g.38506547G>TCA16608999RYR1c.8692+1G>T (n.8692+1G>T)
c.8689+1G>T (n.8689+1G>T)
c.2144+1G>T
n.8775+1G>T
 ClinVar dbSNP
19g.38506548T>ACA405680525RYR1c.8692+2T>A (n.8692+2T>A)
c.8689+2T>A (n.8689+2T>A)
c.2144+2T>A
n.8775+2T>A
19g.38506548T>CCA308118578RYR1c.8692+2T>C (n.8692+2T>C)
c.8689+2T>C (n.8689+2T>C)
c.2144+2T>C
n.8775+2T>C
 dbSNP
19g.38506548T>GCA405680545RYR1c.8692+2T>G (n.8692+2T>G)
c.8689+2T>G (n.8689+2T>G)
c.2144+2T>G
n.8775+2T>G
19g.38506548T=CA2335056687RYR1c.8692+2T= (n.8692+2T=)
c.8689+2T= (n.8689+2T=)
c.2144+2T=
n.8775+2T=
19g.38506551_38506570delCA2584902228RYR1c.8692+5_8692+24del (n.8692+5_8692+24del)
c.8689+5_8689+24del (n.8689+5_8689+24del)
c.2144+5_2144+24del
n.8775+5_8775+24del
 gnomAD v4
19g.38506553dupCA2697556576RYR1c.8692+7dup (n.8692+7dup)
c.8689+7dup (n.8689+7dup)
c.2144+7dup
n.8775+7dup
 ClinVar
19g.38506553G>ACA2576771336RYR1c.8692+7G>A (n.8692+7G>A)
c.8689+7G>A (n.8689+7G>A)
c.2144+7G>A
n.8775+7G>A
 ClinVar

Number of alleles fetched