Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38512258_38512278dup | CA2584903392 | RYR1 | c.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 |
19 | g.38512265C>A | CA405686137 | RYR1 | c.9193C>A (n.9193C>A) c.9254C>A (p.Pro3085His) c.9251C>A (p.Pro3084His) c.2656C>A c.61C>A n.9287C>A | |
19 | g.38512265C>G | CA405686139 | RYR1 | c.9193C>G (n.9193C>G) c.9254C>G (p.Pro3085Arg) c.9251C>G (p.Pro3084Arg) c.2656C>G c.61C>G n.9287C>G | |
19 | g.38512265C>T | CA405686140 | RYR1 | c.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 |
19 | g.38512266T>A | CA507354328 | RYR1 | c.9194T>A (n.9194T>A) c.9255T>A (p.Pro3085=) c.9252T>A (p.Pro3084=) c.2657T>A c.62T>A n.9288T>A | |
19 | g.38512266T>C | CA507354329 | RYR1 | c.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 |
19 | g.38512266T>G | CA507354330 | RYR1 | c.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 |
19 | g.38512267G>A | CA405686143 | RYR1 | c.9195G>A (n.9195G>A) c.9256G>A (p.Glu3086Lys) c.9253G>A (p.Glu3085Lys) c.2658G>A c.63G>A n.9289G>A | |
19 | g.38512267G>C | CA405686146 | RYR1 | c.9195G>C (n.9195G>C) c.9256G>C (p.Glu3086Gln) c.9253G>C (p.Glu3085Gln) c.2658G>C c.63G>C n.9289G>C | |
19 | g.38512267G>T | CA405686150 | RYR1 | c.9195G>T (n.9195G>T) c.9256G>T (p.Glu3086Ter) c.9253G>T (p.Glu3085Ter) c.2658G>T c.63G>T n.9289G>T | |
19 | g.38512268A>C | CA405686158 | RYR1 | c.9196A>C (n.9196A>C) c.9257A>C (p.Glu3086Ala) c.9254A>C (p.Glu3085Ala) c.2659A>C c.64A>C n.9290A>C | |
19 | g.38512268A>G | CA405686156 | RYR1 | c.9196A>G (n.9196A>G) c.9257A>G (p.Glu3086Gly) c.9254A>G (p.Glu3085Gly) c.2659A>G c.64A>G n.9290A>G | |
19 | g.38512268A>T | CA405686154 | RYR1 | c.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 |
19 | g.38512269G>A | CA507354333 | RYR1 | c.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 |
19 | g.38512269G>C | CA405686163 | RYR1 | c.9197G>C (n.9197G>C) c.9258G>C (p.Glu3086Asp) c.9255G>C (p.Glu3085Asp) c.2660G>C c.65G>C n.9291G>C | |
19 | g.38512269G= | CA2335059606 | RYR1 | c.9197G= (n.9197G=) c.9258G= (p.Glu3086=) c.9255G= (p.Glu3085=) c.2660G= c.65G= n.9291G= | |
19 | g.38512269G>T | CA405686160 | RYR1 | c.9197G>T (n.9197G>T) c.9258G>T (p.Glu3086Asp) c.9255G>T (p.Glu3085Asp) c.2660G>T c.65G>T n.9291G>T | |
19 | g.38512269_38512291delinsCCCACTCCCACCATCATCGGGCC | CA084463 | RYR1 | c.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 | |
19 | g.38512270A>C | CA405686166 | RYR1 | c.9198A>C (n.9198A>C) c.9259A>C (p.Ile3087Leu) c.9256A>C (p.Ile3086Leu) c.2661A>C c.66A>C n.9292A>C | |
19 | g.38512270A>G | CA405686168 | RYR1 | c.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 |
19 | g.38512270A>T | CA405686170 | RYR1 | c.9198A>T (n.9198A>T) c.9259A>T (p.Ile3087Phe) c.9256A>T (p.Ile3086Phe) c.2661A>T c.66A>T n.9292A>T | |
19 | g.38512271T>A | CA405686172 | RYR1 | c.9199T>A (n.9199T>A) c.9260T>A (p.Ile3087Asn) c.9257T>A (p.Ile3086Asn) c.2662T>A c.67T>A n.9293T>A | |
19 | g.38512271T>C | CA405686175 | RYR1 | c.9199T>C (n.9199T>C) c.9260T>C (p.Ile3087Thr) c.9257T>C (p.Ile3086Thr) c.2662T>C c.67T>C n.9293T>C | |
19 | g.38512271T>G | CA405686177 | RYR1 | c.9199T>G (n.9199T>G) c.9260T>G (p.Ile3087Ser) c.9257T>G (p.Ile3086Ser) c.2662T>G c.67T>G n.9293T>G | |
19 | g.38512272C>A | CA507354336 | RYR1 | c.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 |
19 | g.38512272C= | CA2335059607 | RYR1 | c.9200C= (n.9200C=) c.9261C= (p.Ile3087=) c.9258C= (p.Ile3086=) c.2663C= c.68C= n.9294C= | |
19 | g.38512272C>G | CA405686179 | RYR1 | c.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 |
19 | g.38512272C>T | CA073441 | RYR1 | c.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 |
19 | g.38512273G>A | CA024973 | RYR1 | c.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 |
19 | g.38512273G>C | CA024975 | RYR1 | c.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 |
19 | g.38512273G= | CA2335059608 | RYR1 | c.9201G= (n.9201G=) c.9262G= (p.Val3088=) c.9259G= (p.Val3087=) c.2664G= c.69G= n.9295G= | |
19 | g.38512273G>T | CA405686203 | RYR1 | c.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 |
19 | g.38512274T>A | CA405686208 | RYR1 | c.9202T>A (n.9202T>A) c.9263T>A (p.Val3088Glu) c.9260T>A (p.Val3087Glu) c.2665T>A c.70T>A n.9296T>A | |
19 | g.38512274T>C | CA405686213 | RYR1 | c.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 |
19 | g.38512274T>G | CA405686204 | RYR1 | c.9202T>G (n.9202T>G) c.9263T>G (p.Val3088Gly) c.9260T>G (p.Val3087Gly) c.2665T>G c.70T>G n.9296T>G | |
19 | g.38512275G>A | CA507354340 | RYR1 | c.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 |
19 | g.38512275G>C | CA507354341 | RYR1 | c.9203G>C (n.9203G>C) c.9264G>C (p.Val3088=) c.9261G>C (p.Val3087=) c.2666G>C c.71G>C n.9297G>C | |
19 | g.38512275G= | CA2335059609 | RYR1 | c.9203G= (n.9203G=) c.9264G= (p.Val3088=) c.9261G= (p.Val3087=) c.2666G= c.71G= n.9297G= | |
19 | g.38512275G>T | CA507354342 | RYR1 | c.9203G>T (n.9203G>T) c.9264G>T (p.Val3088=) c.9261G>T (p.Val3087=) c.2666G>T c.71G>T n.9297G>T | |
19 | g.38512276_38512279del | CA2584903393 | RYR1 | c.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 |
19 | g.38512276A>C | CA405686218 | RYR1 | c.9204A>C (n.9204A>C) c.9265A>C (p.Lys3089Gln) c.9262A>C (p.Lys3088Gln) c.2667A>C c.72A>C n.9298A>C | |
19 | g.38512276A>G | CA405686225 | RYR1 | c.9204A>G (n.9204A>G) c.9265A>G (p.Lys3089Glu) c.9262A>G (p.Lys3088Glu) c.2667A>G c.72A>G n.9298A>G | |
19 | g.38512276A>T | CA405686229 | RYR1 | c.9204A>T (n.9204A>T) c.9265A>T (p.Lys3089Ter) c.9262A>T (p.Lys3088Ter) c.2667A>T c.72A>T n.9298A>T | |
19 | g.38512277A>C | CA405686231 | RYR1 | c.9205A>C (n.9205A>C) c.9266A>C (p.Lys3089Thr) c.9263A>C (p.Lys3088Thr) c.2668A>C c.73A>C n.9299A>C | |
19 | g.38512277A>G | CA405686232 | RYR1 | c.9205A>G (n.9205A>G) c.9266A>G (p.Lys3089Arg) c.9263A>G (p.Lys3088Arg) c.2668A>G c.73A>G n.9299A>G | |
19 | g.38512277A>T | CA405686233 | RYR1 | c.9205A>T (n.9205A>T) c.9266A>T (p.Lys3089Met) c.9263A>T (p.Lys3088Met) c.2668A>T c.73A>T n.9299A>T | |
19 | g.38512278G>A | CA507354343 | RYR1 | c.9206G>A (n.9206G>A) c.9267G>A (p.Lys3089=) c.9264G>A (p.Lys3088=) c.2669G>A c.74G>A n.9300G>A | |
19 | g.38512278G>C | CA405686234 | RYR1 | c.9206G>C (n.9206G>C) c.9267G>C (p.Lys3089Asn) c.9264G>C (p.Lys3088Asn) c.2669G>C c.74G>C n.9300G>C | |
19 | g.38512278G>T | CA405686235 | RYR1 | c.9206G>T (n.9206G>T) c.9267G>T (p.Lys3089Asn) c.9264G>T (p.Lys3088Asn) c.2669G>T c.74G>T n.9300G>T | |
19 | g.38512279G>A | CA405686237 | RYR1 | c.9207G>A (n.9207G>A) c.9268G>A (p.Ala3090Thr) c.9265G>A (p.Ala3089Thr) c.2670G>A c.75G>A n.9301G>A | ClinVar dbSNP gnomAD v4 |