Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38512258_38512278dupCA2584903392RYR1c.9186_9206dup (n.9186_9206dup)
c.9247_9267dup (p.Lys3089_Ala3090insSerGlyProGluIleValLys)
c.9244_9264dup (p.Lys3088_Ala3089insSerGlyProGluIleValLys)
c.2649_2669dup
c.54_74dup
n.9280_9300dup
 gnomAD v4
19g.38512263C>ACA507354325RYR1c.9191C>A (n.9191C>A)
c.9252C>A (p.Gly3084=)
c.9249C>A (p.Gly3083=)
c.2654C>A
c.59C>A
n.9285C>A
19g.38512263C=CA2335059605RYR1c.9191C= (n.9191C=)
c.9252C= (p.Gly3084=)
c.9249C= (p.Gly3083=)
c.2654C=
c.59C=
n.9285C=
19g.38512263C>GCA507354326RYR1c.9191C>G (n.9191C>G)
c.9252C>G (p.Gly3084=)
c.9249C>G (p.Gly3083=)
c.2654C>G
c.59C>G
n.9285C>G
19g.38512263C>TCA507354327RYR1c.9191C>T (n.9191C>T)
c.9252C>T (p.Gly3084=)
c.9249C>T (p.Gly3083=)
c.2654C>T
c.59C>T
n.9285C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38512264C>ACA405686133RYR1c.9192C>A (n.9192C>A)
c.9253C>A (p.Pro3085Thr)
c.9250C>A (p.Pro3084Thr)
c.2655C>A
c.60C>A
n.9286C>A
 COSMIC
19g.38512264C>GCA405686134RYR1c.9192C>G (n.9192C>G)
c.9253C>G (p.Pro3085Ala)
c.9250C>G (p.Pro3084Ala)
c.2655C>G
c.60C>G
n.9286C>G
19g.38512264C>TCA405686135RYR1c.9192C>T (n.9192C>T)
c.9253C>T (p.Pro3085Ser)
c.9250C>T (p.Pro3084Ser)
c.2655C>T
c.60C>T
n.9286C>T
19g.38512265C>ACA405686137RYR1c.9193C>A (n.9193C>A)
c.9254C>A (p.Pro3085His)
c.9251C>A (p.Pro3084His)
c.2656C>A
c.61C>A
n.9287C>A
19g.38512265C>GCA405686139RYR1c.9193C>G (n.9193C>G)
c.9254C>G (p.Pro3085Arg)
c.9251C>G (p.Pro3084Arg)
c.2656C>G
c.61C>G
n.9287C>G
19g.38512265C>TCA405686140RYR1c.9193C>T (n.9193C>T)
c.9254C>T (p.Pro3085Leu)
c.9251C>T (p.Pro3084Leu)
c.2656C>T
c.61C>T
n.9287C>T
 gnomAD v4
19g.38512266T>ACA507354328RYR1c.9194T>A (n.9194T>A)
c.9255T>A (p.Pro3085=)
c.9252T>A (p.Pro3084=)
c.2657T>A
c.62T>A
n.9288T>A
19g.38512266T>CCA507354329RYR1c.9194T>C (n.9194T>C)
c.9255T>C (p.Pro3085=)
c.9252T>C (p.Pro3084=)
c.2657T>C
c.62T>C
n.9288T>C
 gnomAD v4
19g.38512266T>GCA507354330RYR1c.9194T>G (n.9194T>G)
c.9255T>G (p.Pro3085=)
c.9252T>G (p.Pro3084=)
c.2657T>G
c.62T>G
n.9288T>G
 gnomAD v4
19g.38512267G>ACA405686143RYR1c.9195G>A (n.9195G>A)
c.9256G>A (p.Glu3086Lys)
c.9253G>A (p.Glu3085Lys)
c.2658G>A
c.63G>A
n.9289G>A
19g.38512267G>CCA405686146RYR1c.9195G>C (n.9195G>C)
c.9256G>C (p.Glu3086Gln)
c.9253G>C (p.Glu3085Gln)
c.2658G>C
c.63G>C
n.9289G>C
19g.38512267G>TCA405686150RYR1c.9195G>T (n.9195G>T)
c.9256G>T (p.Glu3086Ter)
c.9253G>T (p.Glu3085Ter)
c.2658G>T
c.63G>T
n.9289G>T
19g.38512268A>CCA405686158RYR1c.9196A>C (n.9196A>C)
c.9257A>C (p.Glu3086Ala)
c.9254A>C (p.Glu3085Ala)
c.2659A>C
c.64A>C
n.9290A>C
19g.38512268A>GCA405686156RYR1c.9196A>G (n.9196A>G)
c.9257A>G (p.Glu3086Gly)
c.9254A>G (p.Glu3085Gly)
c.2659A>G
c.64A>G
n.9290A>G
19g.38512268A>TCA405686154RYR1c.9196A>T (n.9196A>T)
c.9257A>T (p.Glu3086Val)
c.9254A>T (p.Glu3085Val)
c.2659A>T
c.64A>T
n.9290A>T
 ClinVar
19g.38512269G>ACA507354333RYR1c.9197G>A (n.9197G>A)
c.9258G>A (p.Glu3086=)
c.9255G>A (p.Glu3085=)
c.2660G>A
c.65G>A
n.9291G>A
 dbSNP gnomAD v3 gnomAD v4
19g.38512269G>CCA405686163RYR1c.9197G>C (n.9197G>C)
c.9258G>C (p.Glu3086Asp)
c.9255G>C (p.Glu3085Asp)
c.2660G>C
c.65G>C
n.9291G>C
19g.38512269G=CA2335059606RYR1c.9197G= (n.9197G=)
c.9258G= (p.Glu3086=)
c.9255G= (p.Glu3085=)
c.2660G=
c.65G=
n.9291G=
19g.38512269G>TCA405686160RYR1c.9197G>T (n.9197G>T)
c.9258G>T (p.Glu3086Asp)
c.9255G>T (p.Glu3085Asp)
c.2660G>T
c.65G>T
n.9291G>T
19g.38512269_38512291delinsCCCACTCCCACCATCATCGGGCCCA084463RYR1c.9197_9219delinsCCCACTCCCACCATCATCGGGCC (n.9197_9219delinsCCCACTCCCACCATCATCGGGCC)
c.9258_9280delinsCCCACTCCCACCATCATCGGGCC (p.Glu3086_Ser3094delinsAspProLeuProProSerSerGlyPro)
c.9255_9277delinsCCCACTCCCACCATCATCGGGCC (p.Glu3085_Ser3093delinsAspProLeuProProSerSerGlyPro)
c.2660_2682delinsCCCACTCCCACCATCATCGGGCC
c.65_87delinsCCCACTCCCACCATCATCGGGCC
n.9291_9313delinsCCCACTCCCACCATCATCGGGCC
19g.38512270A>CCA405686166RYR1c.9198A>C (n.9198A>C)
c.9259A>C (p.Ile3087Leu)
c.9256A>C (p.Ile3086Leu)
c.2661A>C
c.66A>C
n.9292A>C
19g.38512270A>GCA405686168RYR1c.9198A>G (n.9198A>G)
c.9259A>G (p.Ile3087Val)
c.9256A>G (p.Ile3086Val)
c.2661A>G
c.66A>G
n.9292A>G
 COSMIC
19g.38512270A>TCA405686170RYR1c.9198A>T (n.9198A>T)
c.9259A>T (p.Ile3087Phe)
c.9256A>T (p.Ile3086Phe)
c.2661A>T
c.66A>T
n.9292A>T
19g.38512271T>ACA405686172RYR1c.9199T>A (n.9199T>A)
c.9260T>A (p.Ile3087Asn)
c.9257T>A (p.Ile3086Asn)
c.2662T>A
c.67T>A
n.9293T>A
19g.38512271T>CCA405686175RYR1c.9199T>C (n.9199T>C)
c.9260T>C (p.Ile3087Thr)
c.9257T>C (p.Ile3086Thr)
c.2662T>C
c.67T>C
n.9293T>C
19g.38512271T>GCA405686177RYR1c.9199T>G (n.9199T>G)
c.9260T>G (p.Ile3087Ser)
c.9257T>G (p.Ile3086Ser)
c.2662T>G
c.67T>G
n.9293T>G
19g.38512272C>ACA507354336RYR1c.9200C>A (n.9200C>A)
c.9261C>A (p.Ile3087=)
c.9258C>A (p.Ile3086=)
c.2663C>A
c.68C>A
n.9294C>A
 ClinVar
19g.38512272C=CA2335059607RYR1c.9200C= (n.9200C=)
c.9261C= (p.Ile3087=)
c.9258C= (p.Ile3086=)
c.2663C=
c.68C=
n.9294C=
19g.38512272C>GCA405686179RYR1c.9200C>G (n.9200C>G)
c.9261C>G (p.Ile3087Met)
c.9258C>G (p.Ile3086Met)
c.2663C>G
c.68C>G
n.9294C>G
 gnomAD v4
19g.38512272C>TCA073441RYR1c.9200C>T (n.9200C>T)
c.9261C>T (p.Ile3087=)
c.9258C>T (p.Ile3086=)
c.2663C>T
c.68C>T
n.9294C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38512273G>ACA024973RYR1c.9201G>A (n.9201G>A)
c.9262G>A (p.Val3088Met)
c.9259G>A (p.Val3087Met)
c.2664G>A
c.69G>A
n.9295G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38512273G>CCA024975RYR1c.9201G>C (n.9201G>C)
c.9262G>C (p.Val3088Leu)
c.9259G>C (p.Val3087Leu)
c.2664G>C
c.69G>C
n.9295G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38512273G=CA2335059608RYR1c.9201G= (n.9201G=)
c.9262G= (p.Val3088=)
c.9259G= (p.Val3087=)
c.2664G=
c.69G=
n.9295G=
19g.38512273G>TCA405686203RYR1c.9201G>T (n.9201G>T)
c.9262G>T (p.Val3088Leu)
c.9259G>T (p.Val3087Leu)
c.2664G>T
c.69G>T
n.9295G>T
 ClinVar dbSNP gnomAD v4
19g.38512274T>ACA405686208RYR1c.9202T>A (n.9202T>A)
c.9263T>A (p.Val3088Glu)
c.9260T>A (p.Val3087Glu)
c.2665T>A
c.70T>A
n.9296T>A
19g.38512274T>CCA405686213RYR1c.9202T>C (n.9202T>C)
c.9263T>C (p.Val3088Ala)
c.9260T>C (p.Val3087Ala)
c.2665T>C
c.70T>C
n.9296T>C
 dbSNP
19g.38512274T>GCA405686204RYR1c.9202T>G (n.9202T>G)
c.9263T>G (p.Val3088Gly)
c.9260T>G (p.Val3087Gly)
c.2665T>G
c.70T>G
n.9296T>G
19g.38512275G>ACA507354340RYR1c.9203G>A (n.9203G>A)
c.9264G>A (p.Val3088=)
c.9261G>A (p.Val3087=)
c.2666G>A
c.71G>A
n.9297G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38512275G>CCA507354341RYR1c.9203G>C (n.9203G>C)
c.9264G>C (p.Val3088=)
c.9261G>C (p.Val3087=)
c.2666G>C
c.71G>C
n.9297G>C
19g.38512275G=CA2335059609RYR1c.9203G= (n.9203G=)
c.9264G= (p.Val3088=)
c.9261G= (p.Val3087=)
c.2666G=
c.71G=
n.9297G=
19g.38512275G>TCA507354342RYR1c.9203G>T (n.9203G>T)
c.9264G>T (p.Val3088=)
c.9261G>T (p.Val3087=)
c.2666G>T
c.71G>T
n.9297G>T
19g.38512276_38512279delCA2584903393RYR1c.9204_9207del (n.9204_9207del)
c.9265_9268del (p.Lys3089LeufsTer?)
c.9262_9265del (p.Lys3088LeufsTer?)
c.2667_2670del
c.72_75del
n.9298_9301del
 gnomAD v4
19g.38512276A>CCA405686218RYR1c.9204A>C (n.9204A>C)
c.9265A>C (p.Lys3089Gln)
c.9262A>C (p.Lys3088Gln)
c.2667A>C
c.72A>C
n.9298A>C
19g.38512276A>GCA405686225RYR1c.9204A>G (n.9204A>G)
c.9265A>G (p.Lys3089Glu)
c.9262A>G (p.Lys3088Glu)
c.2667A>G
c.72A>G
n.9298A>G
19g.38512276A>TCA405686229RYR1c.9204A>T (n.9204A>T)
c.9265A>T (p.Lys3089Ter)
c.9262A>T (p.Lys3088Ter)
c.2667A>T
c.72A>T
n.9298A>T

Number of alleles fetched