Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38510478C>A | CA10587323 | RYR1 | c.8933-20C>A (n.8933-20C>A) c.8930-20C>A (n.8930-20C>A) c.2385-20C>A n.9016-20C>A | ClinVar dbSNP gnomAD v4 |
19 | g.38510478C= | CA2335058781 | RYR1 | c.8933-20C= (n.8933-20C=) c.8930-20C= (n.8930-20C=) c.2385-20C= n.9016-20C= | |
19 | g.38510478C>T | CA072959 | RYR1 | c.8933-20C>T (n.8933-20C>T) c.8930-20C>T (n.8930-20C>T) c.2385-20C>T n.9016-20C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38510479C= | CA2335058782 | RYR1 | c.8933-19C= (n.8933-19C=) c.8930-19C= (n.8930-19C=) c.2385-19C= n.9016-19C= | |
19 | g.38510479C>T | CA308123061 | RYR1 | c.8933-19C>T (n.8933-19C>T) c.8930-19C>T (n.8930-19C>T) c.2385-19C>T n.9016-19C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510481A= | CA2335058783 | RYR1 | c.8933-17A= (n.8933-17A=) c.8930-17A= (n.8930-17A=) c.2385-17A= n.9016-17A= | |
19 | g.38510481A>G | CA072956 | RYR1 | c.8933-17A>G (n.8933-17A>G) c.8930-17A>G (n.8930-17A>G) c.2385-17A>G n.9016-17A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510483T>G | CA072951 | RYR1 | c.8933-15T>G (n.8933-15T>G) c.8930-15T>G (n.8930-15T>G) c.2385-15T>G n.9016-15T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38510483T= | CA2335058784 | RYR1 | c.8933-15T= (n.8933-15T=) c.8930-15T= (n.8930-15T=) c.2385-15T= n.9016-15T= | |
19 | g.38510486C>G | CA2584902808 | RYR1 | c.8933-12C>G (n.8933-12C>G) c.8930-12C>G (n.8930-12C>G) c.2385-12C>G n.9016-12C>G | gnomAD v4 |
19 | g.38510486C>T | CA2584902809 | RYR1 | c.8933-12C>T (n.8933-12C>T) c.8930-12C>T (n.8930-12C>T) c.2385-12C>T n.9016-12C>T | gnomAD v4 |
19 | g.38510487C= | CA2335058785 | RYR1 | c.8933-11C= (n.8933-11C=) c.8930-11C= (n.8930-11C=) c.2385-11C= n.9016-11C= | |
19 | g.38510487C>T | CA507246153 | RYR1 | c.8933-11C>T (n.8933-11C>T) c.8930-11C>T (n.8930-11C>T) c.2385-11C>T n.9016-11C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38510490C= | CA2335058786 | RYR1 | c.8933-8C= (n.8933-8C=) c.8930-8C= (n.8930-8C=) c.2385-8C= n.9016-8C= | |
19 | g.38510490C>T | CA2335058787 | RYR1 | c.8933-8C>T (n.8933-8C>T) c.8930-8C>T (n.8930-8C>T) c.2385-8C>T n.9016-8C>T | dbSNP |
19 | g.38510492C>T | CA2576771349 | RYR1 | c.8933-6C>T (n.8933-6C>T) c.8930-6C>T (n.8930-6C>T) c.2385-6C>T n.9016-6C>T | |
19 | g.38510494A= | CA2335058788 | RYR1 | c.8933-4A= (n.8933-4A=) c.8930-4A= (n.8930-4A=) c.2385-4A= n.9016-4A= | |
19 | g.38510494A>G | CA308123084 | RYR1 | c.8933-4A>G (n.8933-4A>G) c.8930-4A>G (n.8930-4A>G) c.2385-4A>G n.9016-4A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38510495C= | CA2335058789 | RYR1 | c.8933-3C= (n.8933-3C=) c.8930-3C= (n.8930-3C=) c.2385-3C= n.9016-3C= | |
19 | g.38510495C>T | CA072970 | RYR1 | c.8933-3C>T (n.8933-3C>T) c.8930-3C>T (n.8930-3C>T) c.2385-3C>T n.9016-3C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38510496A>C | CA405683263 | RYR1 | c.8933-2A>C (n.8933-2A>C) c.8930-2A>C (n.8930-2A>C) c.2385-2A>C n.9016-2A>C | gnomAD v4 |
19 | g.38510496A>G | CA405683265 | RYR1 | c.8933-2A>G (n.8933-2A>G) c.8930-2A>G (n.8930-2A>G) c.2385-2A>G n.9016-2A>G | |
19 | g.38510496A>T | CA405683269 | RYR1 | c.8933-2A>T (n.8933-2A>T) c.8930-2A>T (n.8930-2A>T) c.2385-2A>T n.9016-2A>T | |
19 | g.38510497G>A | CA308123095 | RYR1 | c.8933-1G>A (n.8933-1G>A) c.8930-1G>A (n.8930-1G>A) c.2385-1G>A n.9016-1G>A | dbSNP |
19 | g.38510497G>C | CA405683275 | RYR1 | c.8933-1G>C (n.8933-1G>C) c.8930-1G>C (n.8930-1G>C) c.2385-1G>C n.9016-1G>C | |
19 | g.38510497G= | CA2335058790 | RYR1 | c.8933-1G= (n.8933-1G=) c.8930-1G= (n.8930-1G=) c.2385-1G= n.9016-1G= | |
19 | g.38510497G>T | CA405683273 | RYR1 | c.8933-1G>T (n.8933-1G>T) c.8930-1G>T (n.8930-1G>T) c.2385-1G>T n.9016-1G>T | |
19 | g.38510498A>C | CA405683278 | RYR1 | c.8933A>C (p.Glu2978Ala) c.8930A>C (p.Glu2977Ala) c.2385A>C n.9016A>C | COSMIC |
19 | g.38510498A>G | CA405683280 | RYR1 | c.8933A>G (p.Glu2978Gly) c.8930A>G (p.Glu2977Gly) c.2385A>G n.9016A>G | |
19 | g.38510498A>T | CA405683282 | RYR1 | c.8933A>T (p.Glu2978Val) c.8930A>T (p.Glu2977Val) c.2385A>T n.9016A>T | |
19 | g.38510500_38510510del | CA2697556552 | RYR1 | c.8935_8945del (p.Ala2979GlnfsTer10) c.8932_8942del (p.Ala2978GlnfsTer10) c.2387_2397del n.9018_9028del | ClinVar |
19 | g.38510499G>A | CA507246154 | RYR1 | c.8934G>A (p.Glu2978=) c.8931G>A (p.Glu2977=) c.2386G>A n.9017G>A | |
19 | g.38510499G>C | CA405683284 | RYR1 | c.8934G>C (p.Glu2978Asp) c.8931G>C (p.Glu2977Asp) c.2386G>C n.9017G>C | gnomAD v4 |
19 | g.38510499G>T | CA405683285 | RYR1 | c.8934G>T (p.Glu2978Asp) c.8931G>T (p.Glu2977Asp) c.2386G>T n.9017G>T | |
19 | g.38510500G>A | CA405683290 | RYR1 | c.8935G>A (p.Ala2979Thr) c.8932G>A (p.Ala2978Thr) c.2387G>A n.9018G>A | |
19 | g.38510500G>C | CA405683289 | RYR1 | c.8935G>C (p.Ala2979Pro) c.8932G>C (p.Ala2978Pro) c.2387G>C n.9018G>C | |
19 | g.38510500G>T | CA405683287 | RYR1 | c.8935G>T (p.Ala2979Ser) c.8932G>T (p.Ala2978Ser) c.2387G>T n.9018G>T | |
19 | g.38510501C>A | CA405683293 | RYR1 | c.8936C>A (p.Ala2979Asp) c.8933C>A (p.Ala2978Asp) c.2388C>A n.9019C>A | |
19 | g.38510501C= | CA2335058791 | RYR1 | c.8936C= (p.Ala2979=) c.8933C= (p.Ala2978=) c.2388C= n.9019C= | |
19 | g.38510501C>G | CA405683295 | RYR1 | c.8936C>G (p.Ala2979Gly) c.8933C>G (p.Ala2978Gly) c.2388C>G n.9019C>G | |
19 | g.38510501C>T | CA405683297 | RYR1 | c.8936C>T (p.Ala2979Val) c.8933C>T (p.Ala2978Val) c.2388C>T n.9019C>T | COSMIC |
19 | g.38510502T>A | CA507246155 | RYR1 | c.8937T>A (p.Ala2979=) c.8934T>A (p.Ala2978=) c.2389T>A n.9020T>A | |
19 | g.38510502T>C | CA507246156 | RYR1 | c.8937T>C (p.Ala2979=) c.8934T>C (p.Ala2978=) c.2389T>C n.9020T>C | |
19 | g.38510502T>G | CA507246157 | RYR1 | c.8937T>G (p.Ala2979=) c.8934T>G (p.Ala2978=) c.2389T>G n.9020T>G | |
19 | g.38510504_38510505dup | CA882059559 | RYR1 | c.8939_8940dup (p.Val2981TrpfsTer26) c.8936_8937dup (p.Val2980TrpfsTer26) c.2391_2392dup n.9022_9023dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38510503G>A | CA405683299 | RYR1 | c.8938G>A (p.Val2980Met) c.8935G>A (p.Val2979Met) c.2390G>A n.9021G>A | dbSNP |
19 | g.38510503G>C | CA405683301 | RYR1 | c.8938G>C (p.Val2980Leu) c.8935G>C (p.Val2979Leu) c.2390G>C n.9021G>C | |
19 | g.38510503G= | CA2335058792 | RYR1 | c.8938G= (p.Val2980=) c.8935G= (p.Val2979=) c.2390G= n.9021G= | |
19 | g.38510503G>T | CA405683302 | RYR1 | c.8938G>T (p.Val2980Leu) c.8935G>T (p.Val2979Leu) c.2390G>T n.9021G>T | |
19 | g.38510504T>A | CA405683305 | RYR1 | c.8939T>A (p.Val2980Glu) c.8936T>A (p.Val2979Glu) c.2391T>A n.9022T>A | |
19 | g.38510504T>C | CA405683309 | RYR1 | c.8939T>C (p.Val2980Ala) c.8936T>C (p.Val2979Ala) c.2391T>C n.9022T>C | gnomAD v4 |
19 | g.38510504T>G | CA405683307 | RYR1 | c.8939T>G (p.Val2980Gly) c.8936T>G (p.Val2979Gly) c.2391T>G n.9022T>G | |
19 | g.38510505G>A | CA507246158 | RYR1 | c.8940G>A (p.Val2980=) c.8937G>A (p.Val2979=) c.2392G>A n.9023G>A | |
19 | g.38510505G>C | CA084251 | RYR1 | c.8940G>C (p.Val2980=) c.8937G>C (p.Val2979=) c.2392G>C n.9023G>C | |
19 | g.38510505G>T | CA507246159 | RYR1 | c.8940G>T (p.Val2980=) c.8937G>T (p.Val2979=) c.2392G>T n.9023G>T | ClinVar |
19 | g.38510506G>A | CA405683311 | RYR1 | c.8941G>A (p.Val2981Ile) c.8938G>A (p.Val2980Ile) c.2393G>A n.9024G>A | |
19 | g.38510506G>C | CA405683313 | RYR1 | c.8941G>C (p.Val2981Leu) c.8938G>C (p.Val2980Leu) c.2393G>C n.9024G>C | |
19 | g.38510506G>T | CA405683314 | RYR1 | c.8941G>T (p.Val2981Phe) c.8938G>T (p.Val2980Phe) c.2393G>T n.9024G>T | |
19 | g.38510507T>A | CA405683316 | RYR1 | c.8942T>A (p.Val2981Asp) c.8939T>A (p.Val2980Asp) c.2394T>A n.9025T>A | |
19 | g.38510507T>C | CA405683318 | RYR1 | c.8942T>C (p.Val2981Ala) c.8939T>C (p.Val2980Ala) c.2394T>C n.9025T>C | dbSNP |
19 | g.38510507T>G | CA405683319 | RYR1 | c.8942T>G (p.Val2981Gly) c.8939T>G (p.Val2980Gly) c.2394T>G n.9025T>G | dbSNP |
19 | g.38510507T= | CA2335058793 | RYR1 | c.8942T= (p.Val2981=) c.8939T= (p.Val2980=) c.2394T= n.9025T= | |
19 | g.38510508C>A | CA507246160 | RYR1 | c.8943C>A (p.Val2981=) c.8940C>A (p.Val2980=) c.2395C>A n.9026C>A | gnomAD v4 |
19 | g.38510508C>G | CA507246161 | RYR1 | c.8943C>G (p.Val2981=) c.8940C>G (p.Val2980=) c.2395C>G n.9026C>G | ClinVar |
19 | g.38510508C>T | CA507246162 | RYR1 | c.8943C>T (p.Val2981=) c.8940C>T (p.Val2980=) c.2395C>T n.9026C>T | gnomAD v4 |
19 | g.38510509A>C | CA405683322 | RYR1 | c.8944A>C (p.Ser2982Arg) c.8941A>C (p.Ser2981Arg) c.2396A>C n.9027A>C | |
19 | g.38510509A>G | CA405683324 | RYR1 | c.8944A>G (p.Ser2982Gly) c.8941A>G (p.Ser2981Gly) c.2396A>G n.9027A>G | |
19 | g.38510509A>T | CA405683326 | RYR1 | c.8944A>T (p.Ser2982Cys) c.8941A>T (p.Ser2981Cys) c.2396A>T n.9027A>T | |
19 | g.38510510G>A | CA405683328 | RYR1 | c.8945G>A (p.Ser2982Asn) c.8942G>A (p.Ser2981Asn) c.2397G>A n.9028G>A | |
19 | g.38510510G>C | CA405683329 | RYR1 | c.8945G>C (p.Ser2982Thr) c.8942G>C (p.Ser2981Thr) c.2397G>C n.9028G>C | |
19 | g.38510510G>T | CA405683331 | RYR1 | c.8945G>T (p.Ser2982Ile) c.8942G>T (p.Ser2981Ile) c.2397G>T n.9028G>T | |
19 | g.38510511C>A | CA405683333 | RYR1 | c.8946C>A (p.Ser2982Arg) c.8943C>A (p.Ser2981Arg) c.2398C>A n.9029C>A | |
19 | g.38510511C= | CA2335058794 | RYR1 | c.8946C= (p.Ser2982=) c.8943C= (p.Ser2981=) c.2398C= n.9029C= | |
19 | g.38510511C>G | CA405683332 | RYR1 | c.8946C>G (p.Ser2982Arg) c.8943C>G (p.Ser2981Arg) c.2398C>G n.9029C>G | |
19 | g.38510511C>T | CA507246163 | RYR1 | c.8946C>T (p.Ser2982=) c.8943C>T (p.Ser2981=) c.2398C>T n.9029C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38510512A>C | CA405683338 | RYR1 | c.8947A>C (p.Ser2983Arg) c.8944A>C (p.Ser2982Arg) c.2399A>C n.9030A>C | |
19 | g.38510512A>G | CA405683342 | RYR1 | c.8947A>G (p.Ser2983Gly) c.8944A>G (p.Ser2982Gly) c.2399A>G n.9030A>G | |
19 | g.38510512A>T | CA405683340 | RYR1 | c.8947A>T (p.Ser2983Cys) c.8944A>T (p.Ser2982Cys) c.2399A>T n.9030A>T | |
19 | g.38510513G>A | CA405683345 | RYR1 | c.8948G>A (p.Ser2983Asn) c.8945G>A (p.Ser2982Asn) c.2400G>A n.9031G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38510513G>C | CA405683348 | RYR1 | c.8948G>C (p.Ser2983Thr) c.8945G>C (p.Ser2982Thr) c.2400G>C n.9031G>C | gnomAD v4 |
19 | g.38510513G= | CA2335058795 | RYR1 | c.8948G= (p.Ser2983=) c.8945G= (p.Ser2982=) c.2400G= n.9031G= | |
19 | g.38510513G>T | CA405683346 | RYR1 | c.8948G>T (p.Ser2983Ile) c.8945G>T (p.Ser2982Ile) c.2400G>T n.9031G>T | |
19 | g.38510514T>A | CA405683350 | RYR1 | c.8949T>A (p.Ser2983Arg) c.8946T>A (p.Ser2982Arg) c.2401T>A n.9032T>A | |
19 | g.38510514T>C | CA024956 | RYR1 | c.8949T>C (p.Ser2983=) c.8946T>C (p.Ser2982=) c.2401T>C n.9032T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510514T>G | CA405683352 | RYR1 | c.8949T>G (p.Ser2983Arg) c.8946T>G (p.Ser2982Arg) c.2401T>G n.9032T>G | |
19 | g.38510514T= | CA2335058796 | RYR1 | c.8949T= (p.Ser2983=) c.8946T= (p.Ser2982=) c.2401T= n.9032T= | |
19 | g.38510515G>A | CA405683355 | RYR1 | c.8950G>A (p.Gly2984Arg) c.8947G>A (p.Gly2983Arg) c.2402G>A n.9033G>A | |
19 | g.38510515G>C | CA405683359 | RYR1 | c.8950G>C (p.Gly2984Arg) c.8947G>C (p.Gly2983Arg) c.2402G>C n.9033G>C | |
19 | g.38510515G>T | CA405683357 | RYR1 | c.8950G>T (p.Gly2984Trp) c.8947G>T (p.Gly2983Trp) c.2402G>T n.9033G>T | |
19 | g.38510516G>A | CA072979 | RYR1 | c.8951G>A (p.Gly2984Glu) c.8948G>A (p.Gly2983Glu) c.2403G>A n.9034G>A | ClinVar dbSNP ExAC gnomAD v4 |
19 | g.38510516G>C | CA405683364 | RYR1 | c.8951G>C (p.Gly2984Ala) c.8948G>C (p.Gly2983Ala) c.2403G>C n.9034G>C | |
19 | g.38510516G= | CA2335058797 | RYR1 | c.8951G= (p.Gly2984=) c.8948G= (p.Gly2983=) c.2403G= n.9034G= | |
19 | g.38510516G>T | CA405683362 | RYR1 | c.8951G>T (p.Gly2984Val) c.8948G>T (p.Gly2983Val) c.2403G>T n.9034G>T | |
19 | g.38510517G>A | CA072983 | RYR1 | c.8952G>A (p.Gly2984=) c.8949G>A (p.Gly2983=) c.2404G>A n.9035G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38510517G>C | CA507246164 | RYR1 | c.8952G>C (p.Gly2984=) c.8949G>C (p.Gly2983=) c.2404G>C n.9035G>C | |
19 | g.38510517G= | CA2335058798 | RYR1 | c.8952G= (p.Gly2984=) c.8949G= (p.Gly2983=) c.2404G= n.9035G= | |
19 | g.38510517G>T | CA507246165 | RYR1 | c.8952G>T (p.Gly2984=) c.8949G>T (p.Gly2983=) c.2404G>T n.9035G>T | |
19 | g.38510518C>A | CA507246166 | RYR1 | c.8953C>A (p.Arg2985=) c.8950C>A (p.Arg2984=) c.2405C>A n.9036C>A | |
19 | g.38510518C= | CA2335058799 | RYR1 | c.8953C= (p.Arg2985=) c.8950C= (p.Arg2984=) c.2405C= n.9036C= | |
19 | g.38510518C>G | CA405683368 | RYR1 | c.8953C>G (p.Arg2985Gly) c.8950C>G (p.Arg2984Gly) c.2405C>G n.9036C>G | |
19 | g.38510518C>T | CA405683370 | RYR1 | c.8953C>T (p.Arg2985Ter) c.8950C>T (p.Arg2984Ter) c.2405C>T n.9036C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.38510519G>A | CA072988 | RYR1 | c.8954G>A (p.Arg2985Gln) c.8951G>A (p.Arg2984Gln) c.2406G>A n.9037G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38510519G>C | CA405683373 | RYR1 | c.8954G>C (p.Arg2985Pro) c.8951G>C (p.Arg2984Pro) c.2406G>C n.9037G>C | |
19 | g.38510519G= | CA2335058800 | RYR1 | c.8954G= (p.Arg2985=) c.8951G= (p.Arg2984=) c.2406G= n.9037G= | |
19 | g.38510519G>T | CA405683374 | RYR1 | c.8954G>T (p.Arg2985Leu) c.8951G>T (p.Arg2984Leu) c.2406G>T n.9037G>T | COSMIC |
19 | g.38510520A= | CA2335058801 | RYR1 | c.8955A= (p.Arg2985=) c.8952A= (p.Arg2984=) c.2407A= n.9038A= | |
19 | g.38510520A>C | CA507246167 | RYR1 | c.8955A>C (p.Arg2985=) c.8952A>C (p.Arg2984=) c.2407A>C n.9038A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510520A>G | CA507246168 | RYR1 | c.8955A>G (p.Arg2985=) c.8952A>G (p.Arg2984=) c.2407A>G n.9038A>G | gnomAD v4 |
19 | g.38510520A>T | CA507246169 | RYR1 | c.8955A>T (p.Arg2985=) c.8952A>T (p.Arg2984=) c.2407A>T n.9038A>T | |
19 | g.38510521G>A | CA405683378 | RYR1 | c.8956G>A (p.Val2986Met) c.8953G>A (p.Val2985Met) c.2408G>A n.9039G>A | |
19 | g.38510521G>C | CA405683377 | RYR1 | c.8956G>C (p.Val2986Leu) c.8953G>C (p.Val2985Leu) c.2408G>C n.9039G>C | dbSNP gnomAD v2 |
19 | g.38510521G= | CA2335058802 | RYR1 | c.8956G= (p.Val2986=) c.8953G= (p.Val2985=) c.2408G= n.9039G= | |
19 | g.38510521G>T | CA405683375 | RYR1 | c.8956G>T (p.Val2986Leu) c.8953G>T (p.Val2985Leu) c.2408G>T n.9039G>T | dbSNP |
19 | g.38510522T>A | CA405683379 | RYR1 | c.8957T>A (p.Val2986Glu) c.8954T>A (p.Val2985Glu) c.2409T>A n.9040T>A | |
19 | g.38510522T>C | CA405683380 | RYR1 | c.8957T>C (p.Val2986Ala) c.8954T>C (p.Val2985Ala) c.2409T>C n.9040T>C | |
19 | g.38510522T>G | CA405683381 | RYR1 | c.8957T>G (p.Val2986Gly) c.8954T>G (p.Val2985Gly) c.2409T>G n.9040T>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38510522T= | CA2335058803 | RYR1 | c.8957T= (p.Val2986=) c.8954T= (p.Val2985=) c.2409T= n.9040T= | |
19 | g.38510523G>A | CA507246171 | RYR1 | c.8958G>A (p.Val2986=) c.8955G>A (p.Val2985=) c.2410G>A n.9041G>A | ClinVar |
19 | g.38510523G>C | CA507246172 | RYR1 | c.8958G>C (p.Val2986=) c.8955G>C (p.Val2985=) c.2410G>C n.9041G>C | |
19 | g.38510523G>T | CA507246173 | RYR1 | c.8958G>T (p.Val2986=) c.8955G>T (p.Val2985=) c.2410G>T n.9041G>T | |
19 | g.38510524G>A | CA405683382 | RYR1 | c.8959G>A (p.Glu2987Lys) c.8956G>A (p.Glu2986Lys) c.2411G>A n.9042G>A | |
19 | g.38510524G>C | CA072992 | RYR1 | c.8959G>C (p.Glu2987Gln) c.8956G>C (p.Glu2986Gln) c.2411G>C n.9042G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510524G= | CA2335058804 | RYR1 | c.8959G= (p.Glu2987=) c.8956G= (p.Glu2986=) c.2411G= n.9042G= | |
19 | g.38510524G>T | CA405683383 | RYR1 | c.8959G>T (p.Glu2987Ter) c.8956G>T (p.Glu2986Ter) c.2411G>T n.9042G>T | |
19 | g.38510525A= | CA2335058805 | RYR1 | c.8960A= (p.Glu2987=) c.8957A= (p.Glu2986=) c.2412A= n.9043A= | |
19 | g.38510525A>C | CA405683385 | RYR1 | c.8960A>C (p.Glu2987Ala) c.8957A>C (p.Glu2986Ala) c.2412A>C n.9043A>C | |
19 | g.38510525A>G | CA308123109 | RYR1 | c.8960A>G (p.Glu2987Gly) c.8957A>G (p.Glu2986Gly) c.2412A>G n.9043A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38510525A>T | CA405683387 | RYR1 | c.8960A>T (p.Glu2987Val) c.8957A>T (p.Glu2986Val) c.2412A>T n.9043A>T | |
19 | g.38510526A>C | CA405683388 | RYR1 | c.8961A>C (p.Glu2987Asp) c.8958A>C (p.Glu2986Asp) c.2413A>C n.9044A>C | |
19 | g.38510526A>G | CA507246176 | RYR1 | c.8961A>G (p.Glu2987=) c.8958A>G (p.Glu2986=) c.2413A>G n.9044A>G | |
19 | g.38510526A>T | CA405683391 | RYR1 | c.8961A>T (p.Glu2987Asp) c.8958A>T (p.Glu2986Asp) c.2413A>T n.9044A>T | |
19 | g.38510527A>C | CA405683394 | RYR1 | c.8962A>C (p.Lys2988Gln) c.8959A>C (p.Lys2987Gln) c.2414A>C n.9045A>C | |
19 | g.38510527A>G | CA405683396 | RYR1 | c.8962A>G (p.Lys2988Glu) c.8959A>G (p.Lys2987Glu) c.2414A>G n.9045A>G | |
19 | g.38510527A>T | CA405683398 | RYR1 | c.8962A>T (p.Lys2988Ter) c.8959A>T (p.Lys2987Ter) c.2414A>T n.9045A>T | |
19 | g.38510528A>C | CA405683400 | RYR1 | c.8963A>C (p.Lys2988Thr) c.8960A>C (p.Lys2987Thr) c.2415A>C n.9046A>C | |
19 | g.38510528A>G | CA405683402 | RYR1 | c.8963A>G (p.Lys2988Arg) c.8960A>G (p.Lys2987Arg) c.2415A>G n.9046A>G | |
19 | g.38510528A>T | CA405683404 | RYR1 | c.8963A>T (p.Lys2988Met) c.8960A>T (p.Lys2987Met) c.2415A>T n.9046A>T | |
19 | g.38510529G>A | CA072996 | RYR1 | c.8964G>A (p.Lys2988=) c.8961G>A (p.Lys2987=) c.2416G>A n.9047G>A | dbSNP ExAC gnomAD v2 |
19 | g.38510529G>C | CA405683408 | RYR1 | c.8964G>C (p.Lys2988Asn) c.8961G>C (p.Lys2987Asn) c.2416G>C n.9047G>C | |
19 | g.38510529G= | CA2335058806 | RYR1 | c.8964G= (p.Lys2988=) c.8961G= (p.Lys2987=) c.2416G= n.9047G= | |
19 | g.38510529G>T | CA405683410 | RYR1 | c.8964G>T (p.Lys2988Asn) c.8961G>T (p.Lys2987Asn) c.2416G>T n.9047G>T | gnomAD v4 |
19 | g.38510530T>A | CA405683411 | RYR1 | c.8965T>A (p.Ser2989Thr) c.8962T>A (p.Ser2988Thr) c.2417T>A n.9048T>A | |
19 | g.38510530T>C | CA405683413 | RYR1 | c.8965T>C (p.Ser2989Pro) c.8962T>C (p.Ser2988Pro) c.2417T>C n.9048T>C | |
19 | g.38510530T>G | CA405683412 | RYR1 | c.8965T>G (p.Ser2989Ala) c.8962T>G (p.Ser2988Ala) c.2417T>G n.9048T>G | |
19 | g.38510531C>A | CA405683414 | RYR1 | c.8966C>A (p.Ser2989Tyr) c.8963C>A (p.Ser2988Tyr) c.2418C>A n.9049C>A | |
19 | g.38510531C>G | CA405683416 | RYR1 | c.8966C>G (p.Ser2989Cys) c.8963C>G (p.Ser2988Cys) c.2418C>G n.9049C>G | gnomAD v4 |
19 | g.38510531C>T | CA405683417 | RYR1 | c.8966C>T (p.Ser2989Phe) c.8963C>T (p.Ser2988Phe) c.2418C>T n.9049C>T | |
19 | g.38510534dup | CA084238 | RYR1 | c.8969dup (p.His2991ThrfsTer2) c.8966dup (p.His2990ThrfsTer2) c.2421dup n.9052dup | |
19 | g.38510532C>A | CA507246177 | RYR1 | c.8967C>A (p.Ser2989=) c.8964C>A (p.Ser2988=) c.2419C>A n.9050C>A | |
19 | g.38510532C>G | CA507246178 | RYR1 | c.8967C>G (p.Ser2989=) c.8964C>G (p.Ser2988=) c.2419C>G n.9050C>G | |
19 | g.38510532C>T | CA507246179 | RYR1 | c.8967C>T (p.Ser2989=) c.8964C>T (p.Ser2988=) c.2419C>T n.9050C>T | |
19 | g.38510533C>A | CA405683418 | RYR1 | c.8968C>A (p.Pro2990Thr) c.8965C>A (p.Pro2989Thr) c.2420C>A n.9051C>A | |
19 | g.38510533C>G | CA405683419 | RYR1 | c.8968C>G (p.Pro2990Ala) c.8965C>G (p.Pro2989Ala) c.2420C>G n.9051C>G | |
19 | g.38510533C>T | CA405683420 | RYR1 | c.8968C>T (p.Pro2990Ser) c.8965C>T (p.Pro2989Ser) c.2420C>T n.9051C>T | |
19 | g.38510534C>A | CA405683421 | RYR1 | c.8969C>A (p.Pro2990Gln) c.8966C>A (p.Pro2989Gln) c.2421C>A n.9052C>A | ClinVar gnomAD v4 |
19 | g.38510534C= | CA2335058807 | RYR1 | c.8969C= (p.Pro2990=) c.8966C= (p.Pro2989=) c.2421C= n.9052C= | |
19 | g.38510534C>G | CA405683422 | RYR1 | c.8969C>G (p.Pro2990Arg) c.8966C>G (p.Pro2989Arg) c.2421C>G n.9052C>G | ClinVar |
19 | g.38510534C>T | CA073000 | RYR1 | c.8969C>T (p.Pro2990Leu) c.8966C>T (p.Pro2989Leu) c.2421C>T n.9052C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38510535A>C | CA084239 | RYR1 | c.8970A>C (p.Pro2990=) c.8967A>C (p.Pro2989=) c.2422A>C n.9053A>C | |
19 | g.38510535A>G | CA507246181 | RYR1 | c.8970A>G (p.Pro2990=) c.8967A>G (p.Pro2989=) c.2422A>G n.9053A>G | |
19 | g.38510535A>T | CA507246182 | RYR1 | c.8970A>T (p.Pro2990=) c.8967A>T (p.Pro2989=) c.2422A>T n.9053A>T | |
19 | g.38510536C>A | CA405683423 | RYR1 | c.8971C>A (p.His2991Asn) c.8968C>A (p.His2990Asn) c.2423C>A n.9054C>A | |
19 | g.38510536C= | CA2335058808 | RYR1 | c.8971C= (p.His2991=) c.8968C= (p.His2990=) c.2423C= n.9054C= | |
19 | g.38510536C>G | CA405683424 | RYR1 | c.8971C>G (p.His2991Asp) c.8968C>G (p.His2990Asp) c.2423C>G n.9054C>G | |
19 | g.38510536C>T | CA405683425 | RYR1 | c.8971C>T (p.His2991Tyr) c.8968C>T (p.His2990Tyr) c.2423C>T n.9054C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38510537A>C | CA405683428 | RYR1 | c.8972A>C (p.His2991Pro) c.8969A>C (p.His2990Pro) c.2424A>C n.9055A>C | |
19 | g.38510537A>G | CA405683426 | RYR1 | c.8972A>G (p.His2991Arg) c.8969A>G (p.His2990Arg) c.2424A>G n.9055A>G | |
19 | g.38510537A>T | CA405683427 | RYR1 | c.8972A>T (p.His2991Leu) c.8969A>T (p.His2990Leu) c.2424A>T n.9055A>T | |
19 | g.38510538T>A | CA405683429 | RYR1 | c.8973T>A (p.His2991Gln) c.8970T>A (p.His2990Gln) c.2425T>A n.9056T>A | |
19 | g.38510538T>C | CA507246183 | RYR1 | c.8973T>C (p.His2991=) c.8970T>C (p.His2990=) c.2425T>C n.9056T>C | ClinVar dbSNP |
19 | g.38510538T>G | CA405683430 | RYR1 | c.8973T>G (p.His2991Gln) c.8970T>G (p.His2990Gln) c.2425T>G n.9056T>G | |
19 | g.38510539G>A | CA308123126 | RYR1 | c.8974G>A (p.Glu2992Lys) c.8971G>A (p.Glu2991Lys) c.2426G>A n.9057G>A | dbSNP |
19 | g.38510539G>C | CA405683431 | RYR1 | c.8974G>C (p.Glu2992Gln) c.8971G>C (p.Glu2991Gln) c.2426G>C n.9057G>C | |
19 | g.38510539G= | CA2335058809 | RYR1 | c.8974G= (p.Glu2992=) c.8971G= (p.Glu2991=) c.2426G= n.9057G= | |
19 | g.38510539G>T | CA405683432 | RYR1 | c.8974G>T (p.Glu2992Ter) c.8971G>T (p.Glu2991Ter) c.2426G>T n.9057G>T | |
19 | g.38510540A>C | CA405683433 | RYR1 | c.8975A>C (p.Glu2992Ala) c.8972A>C (p.Glu2991Ala) c.2427A>C n.9058A>C | gnomAD v4 |
19 | g.38510540A>G | CA405683434 | RYR1 | c.8975A>G (p.Glu2992Gly) c.8972A>G (p.Glu2991Gly) c.2427A>G n.9058A>G | |
19 | g.38510540A>T | CA405683435 | RYR1 | c.8975A>T (p.Glu2992Val) c.8972A>T (p.Glu2991Val) c.2427A>T n.9058A>T | |
19 | g.38510541A>C | CA405683436 | RYR1 | c.8976A>C (p.Glu2992Asp) c.8973A>C (p.Glu2991Asp) c.2428A>C n.9059A>C | |
19 | g.38510541A>G | CA084241 | RYR1 | c.8976A>G (p.Glu2992=) c.8973A>G (p.Glu2991=) c.2428A>G n.9059A>G | |
19 | g.38510541A>T | CA405683437 | RYR1 | c.8976A>T (p.Glu2992Asp) c.8973A>T (p.Glu2991Asp) c.2428A>T n.9059A>T | |
19 | g.38510542C>A | CA405683439 | RYR1 | c.8977C>A (p.Gln2993Lys) c.8974C>A (p.Gln2992Lys) c.2429C>A n.9060C>A | ClinVar gnomAD v4 |
19 | g.38510542C= | CA2335058810 | RYR1 | c.8977C= (p.Gln2993=) c.8974C= (p.Gln2992=) c.2429C= n.9060C= | |
19 | g.38510542C>G | CA405683438 | RYR1 | c.8977C>G (p.Gln2993Glu) c.8974C>G (p.Gln2992Glu) c.2429C>G n.9060C>G | |
19 | g.38510542C>T | CA073006 | RYR1 | c.8977C>T (p.Gln2993Ter) c.8974C>T (p.Gln2992Ter) c.2429C>T n.9060C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510543A= | CA2335058811 | RYR1 | c.8978A= (p.Gln2993=) c.8975A= (p.Gln2992=) c.2430A= n.9061A= | |
19 | g.38510543A>C | CA084243 | RYR1 | c.8978A>C (p.Gln2993Pro) c.8975A>C (p.Gln2992Pro) c.2430A>C n.9061A>C | |
19 | g.38510543A>G | CA405683441 | RYR1 | c.8978A>G (p.Gln2993Arg) c.8975A>G (p.Gln2992Arg) c.2430A>G n.9061A>G | ClinVar dbSNP |
19 | g.38510543A>T | CA405683440 | RYR1 | c.8978A>T (p.Gln2993Leu) c.8975A>T (p.Gln2992Leu) c.2430A>T n.9061A>T | |
19 | g.38510544G>A | CA507246185 | RYR1 | c.8979G>A (p.Gln2993=) c.8976G>A (p.Gln2992=) c.2431G>A n.9062G>A | dbSNP |
19 | g.38510544G>C | CA405683442 | RYR1 | c.8979G>C (p.Gln2993His) c.8976G>C (p.Gln2992His) c.2431G>C n.9062G>C | |
19 | g.38510544G= | CA2335058812 | RYR1 | c.8979G= (p.Gln2993=) c.8976G= (p.Gln2992=) c.2431G= n.9062G= | |
19 | g.38510544G>T | CA405683443 | RYR1 | c.8979G>T (p.Gln2993His) c.8976G>T (p.Gln2992His) c.2431G>T n.9062G>T | |
19 | g.38510545G>A | CA405683444 | RYR1 | c.8980G>A (p.Glu2994Lys) c.8977G>A (p.Glu2993Lys) c.2432G>A n.9063G>A | |
19 | g.38510545G>C | CA405683445 | RYR1 | c.8980G>C (p.Glu2994Gln) c.8977G>C (p.Glu2993Gln) c.2432G>C n.9063G>C | COSMIC |
19 | g.38510545G>T | CA405683446 | RYR1 | c.8980G>T (p.Glu2994Ter) c.8977G>T (p.Glu2993Ter) c.2432G>T n.9063G>T | |
19 | g.38510546A>C | CA405683447 | RYR1 | c.8981A>C (p.Glu2994Ala) c.8978A>C (p.Glu2993Ala) c.2433A>C n.9064A>C | |
19 | g.38510546A>G | CA405683448 | RYR1 | c.8981A>G (p.Glu2994Gly) c.8978A>G (p.Glu2993Gly) c.2433A>G n.9064A>G | |
19 | g.38510546A>T | CA405683449 | RYR1 | c.8981A>T (p.Glu2994Val) c.8978A>T (p.Glu2993Val) c.2433A>T n.9064A>T | |
19 | g.38510547G>A | CA507246186 | RYR1 | c.8982G>A (p.Glu2994=) c.8979G>A (p.Glu2993=) c.2434G>A n.9065G>A | |
19 | g.38510547G>C | CA405683450 | RYR1 | c.8982G>C (p.Glu2994Asp) c.8979G>C (p.Glu2993Asp) c.2434G>C n.9065G>C | |
19 | g.38510547G>T | CA405683451 | RYR1 | c.8982G>T (p.Glu2994Asp) c.8979G>T (p.Glu2993Asp) c.2434G>T n.9065G>T | |
19 | g.38510548A= | CA2335058813 | RYR1 | c.8983A= (p.Ile2995=) c.8980A= (p.Ile2994=) c.2435A= n.9066A= | |
19 | g.38510548A>C | CA405683452 | RYR1 | c.8983A>C (p.Ile2995Leu) c.8980A>C (p.Ile2994Leu) c.2435A>C n.9066A>C | |
19 | g.38510548A>G | CA405683453 | RYR1 | c.8983A>G (p.Ile2995Val) c.8980A>G (p.Ile2994Val) c.2435A>G n.9066A>G | dbSNP gnomAD v4 |
19 | g.38510548A>T | CA405683454 | RYR1 | c.8983A>T (p.Ile2995Phe) c.8980A>T (p.Ile2994Phe) c.2435A>T n.9066A>T | |
19 | g.38510549T>A | CA405683455 | RYR1 | c.8984T>A (p.Ile2995Asn) c.8981T>A (p.Ile2994Asn) c.2436T>A n.9067T>A | |
19 | g.38510549T>C | CA405683457 | RYR1 | c.8984T>C (p.Ile2995Thr) c.8981T>C (p.Ile2994Thr) c.2436T>C n.9067T>C | |
19 | g.38510549T>G | CA405683456 | RYR1 | c.8984T>G (p.Ile2995Ser) c.8981T>G (p.Ile2994Ser) c.2436T>G n.9067T>G | |
19 | g.38510550T>A | CA507246187 | RYR1 | c.8985T>A (p.Ile2995=) c.8982T>A (p.Ile2994=) c.2437T>A n.9068T>A | |
19 | g.38510550T>C | CA084248 | RYR1 | c.8985T>C (p.Ile2995=) c.8982T>C (p.Ile2994=) c.2437T>C n.9068T>C | |
19 | g.38510550T>G | CA405683458 | RYR1 | c.8985T>G (p.Ile2995Met) c.8982T>G (p.Ile2994Met) c.2437T>G n.9068T>G | |
19 | g.38510551A>C | CA405683459 | RYR1 | c.8986A>C (p.Lys2996Gln) c.8983A>C (p.Lys2995Gln) c.2438A>C n.9069A>C | |
19 | g.38510551A>G | CA405683460 | RYR1 | c.8986A>G (p.Lys2996Glu) c.8983A>G (p.Lys2995Glu) c.2438A>G n.9069A>G | |
19 | g.38510551A>T | CA405683461 | RYR1 | c.8986A>T (p.Lys2996Ter) c.8983A>T (p.Lys2995Ter) c.2438A>T n.9069A>T | |
19 | g.38510552A>C | CA405683462 | RYR1 | c.8987A>C (p.Lys2996Thr) c.8984A>C (p.Lys2995Thr) c.2439A>C n.9070A>C | |
19 | g.38510552A>G | CA405683463 | RYR1 | c.8987A>G (p.Lys2996Arg) c.8984A>G (p.Lys2995Arg) c.2439A>G n.9070A>G | |
19 | g.38510552A>T | CA405683464 | RYR1 | c.8987A>T (p.Lys2996Ile) c.8984A>T (p.Lys2995Ile) c.2439A>T n.9070A>T | |
19 | g.38510553A>C | CA405683465 | RYR1 | c.8988A>C (p.Lys2996Asn) c.8985A>C (p.Lys2995Asn) c.2440A>C n.9071A>C | |
19 | g.38510553A>G | CA507246188 | RYR1 | c.8988A>G (p.Lys2996=) c.8985A>G (p.Lys2995=) c.2440A>G n.9071A>G | ClinVar dbSNP |
19 | g.38510553A>T | CA405683466 | RYR1 | c.8988A>T (p.Lys2996Asn) c.8985A>T (p.Lys2995Asn) c.2440A>T n.9071A>T | |
19 | g.38510554T>A | CA405683469 | RYR1 | c.8989T>A (p.Phe2997Ile) c.8986T>A (p.Phe2996Ile) c.2441T>A n.9072T>A | |
19 | g.38510554T>C | CA405683468 | RYR1 | c.8989T>C (p.Phe2997Leu) c.8986T>C (p.Phe2996Leu) c.2441T>C n.9072T>C | |
19 | g.38510554T>G | CA405683467 | RYR1 | c.8989T>G (p.Phe2997Val) c.8986T>G (p.Phe2996Val) c.2441T>G n.9072T>G | |
19 | g.38510555T>A | CA405683470 | RYR1 | c.8990T>A (p.Phe2997Tyr) c.8987T>A (p.Phe2996Tyr) c.2442T>A n.9073T>A | |
19 | g.38510555T>C | CA405683471 | RYR1 | c.8990T>C (p.Phe2997Ser) c.8987T>C (p.Phe2996Ser) c.2442T>C n.9073T>C | |
19 | g.38510555T>G | CA405683472 | RYR1 | c.8990T>G (p.Phe2997Cys) c.8987T>G (p.Phe2996Cys) c.2442T>G n.9073T>G | |
19 | g.38510556C>A | CA405683473 | RYR1 | c.8991C>A (p.Phe2997Leu) c.8988C>A (p.Phe2996Leu) c.2443C>A n.9074C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38510556C= | CA2335058814 | RYR1 | c.8991C= (p.Phe2997=) c.8988C= (p.Phe2996=) c.2443C= n.9074C= | |
19 | g.38510556C>G | CA405683474 | RYR1 | c.8991C>G (p.Phe2997Leu) c.8988C>G (p.Phe2996Leu) c.2443C>G n.9074C>G | |
19 | g.38510556C>T | CA507246189 | RYR1 | c.8991C>T (p.Phe2997=) c.8988C>T (p.Phe2996=) c.2443C>T n.9074C>T | COSMIC |
19 | g.38510557T>A | CA405683475 | RYR1 | c.8992T>A (p.Phe2998Ile) c.8989T>A (p.Phe2997Ile) c.2444T>A n.9075T>A | |
19 | g.38510557T>C | CA405683476 | RYR1 | c.8992T>C (p.Phe2998Leu) c.8989T>C (p.Phe2997Leu) c.2444T>C n.9075T>C | |
19 | g.38510557T>G | CA405683477 | RYR1 | c.8992T>G (p.Phe2998Val) c.8989T>G (p.Phe2997Val) c.2444T>G n.9075T>G | |
19 | g.38510559del | CA2584902810 | RYR1 | c.8994del (p.Phe2998LeufsTer8) c.8991del (p.Phe2997LeufsTer8) c.2446del n.9077del | gnomAD v4 |
19 | g.38510558T>A | CA405683478 | RYR1 | c.8993T>A (p.Phe2998Tyr) c.8990T>A (p.Phe2997Tyr) c.2445T>A n.9076T>A | |
19 | g.38510558T>C | CA405683479 | RYR1 | c.8993T>C (p.Phe2998Ser) c.8990T>C (p.Phe2997Ser) c.2445T>C n.9076T>C | |
19 | g.38510558T>G | CA405683480 | RYR1 | c.8993T>G (p.Phe2998Cys) c.8990T>G (p.Phe2997Cys) c.2445T>G n.9076T>G | |
19 | g.38510559T>A | CA405683481 | RYR1 | c.8994T>A (p.Phe2998Leu) c.8991T>A (p.Phe2997Leu) c.2446T>A n.9077T>A | |
19 | g.38510559T>C | CA507246190 | RYR1 | c.8994T>C (p.Phe2998=) c.8991T>C (p.Phe2997=) c.2446T>C n.9077T>C | dbSNP |
19 | g.38510559T>G | CA405683483 | RYR1 | c.8994T>G (p.Phe2998Leu) c.8991T>G (p.Phe2997Leu) c.2446T>G n.9077T>G | |
19 | g.38510559T= | CA2335058815 | RYR1 | c.8994T= (p.Phe2998=) c.8991T= (p.Phe2997=) c.2446T= n.9077T= | |
19 | g.38510560G>A | CA405683488 | RYR1 | c.8995G>A (p.Ala2999Thr) c.8992G>A (p.Ala2998Thr) c.2447G>A n.9078G>A | |
19 | g.38510560G>C | CA405683484 | RYR1 | c.8995G>C (p.Ala2999Pro) c.8992G>C (p.Ala2998Pro) c.2447G>C n.9078G>C | |
19 | g.38510560G>T | CA405683486 | RYR1 | c.8995G>T (p.Ala2999Ser) c.8992G>T (p.Ala2998Ser) c.2447G>T n.9078G>T | COSMIC |
19 | g.38510561C>A | CA405683490 | RYR1 | c.8996C>A (p.Ala2999Asp) c.8993C>A (p.Ala2998Asp) c.2448C>A n.9079C>A | |
19 | g.38510561C= | CA2335058816 | RYR1 | c.8996C= (p.Ala2999=) c.8993C= (p.Ala2998=) c.2448C= n.9079C= | |
19 | g.38510561C>G | CA073022 | RYR1 | c.8996C>G (p.Ala2999Gly) c.8993C>G (p.Ala2998Gly) c.2448C>G n.9079C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38510561C>T | CA405683493 | RYR1 | c.8996C>T (p.Ala2999Val) c.8993C>T (p.Ala2998Val) c.2448C>T n.9079C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38510562C>A | CA507246191 | RYR1 | c.8997C>A (p.Ala2999=) c.8994C>A (p.Ala2998=) c.2449C>A n.9080C>A | |
19 | g.38510562C>G | CA507246192 | RYR1 | c.8997C>G (p.Ala2999=) c.8994C>G (p.Ala2998=) c.2449C>G n.9080C>G | |
19 | g.38510562C>T | CA507246193 | RYR1 | c.8997C>T (p.Ala2999=) c.8994C>T (p.Ala2998=) c.2449C>T n.9080C>T | |
19 | g.38510563A>C | CA405683495 | RYR1 | c.8998A>C (p.Lys3000Gln) c.8995A>C (p.Lys2999Gln) c.2450A>C n.9081A>C | |
19 | g.38510563A>G | CA405683497 | RYR1 | c.8998A>G (p.Lys3000Glu) c.8995A>G (p.Lys2999Glu) c.2450A>G n.9081A>G | |
19 | g.38510563A>T | CA405683499 | RYR1 | c.8998A>T (p.Lys3000Ter) c.8995A>T (p.Lys2999Ter) c.2450A>T n.9081A>T | |
19 | g.38510564A= | CA2335058817 | RYR1 | c.8999A= (p.Lys3000=) c.8996A= (p.Lys2999=) c.2451A= n.9082A= | |
19 | g.38510564A>C | CA405683501 | RYR1 | c.8999A>C (p.Lys3000Thr) c.8996A>C (p.Lys2999Thr) c.2451A>C n.9082A>C | |
19 | g.38510564A>G | CA405683502 | RYR1 | c.8999A>G (p.Lys3000Arg) c.8996A>G (p.Lys2999Arg) c.2451A>G n.9082A>G | |
19 | g.38510564A>T | CA308123139 | RYR1 | c.8999A>T (p.Lys3000Met) c.8996A>T (p.Lys2999Met) c.2451A>T n.9082A>T | dbSNP gnomAD v4 |
19 | g.38510565G>A | CA507246194 | RYR1 | c.9000G>A (p.Lys3000=) c.8997G>A (p.Lys2999=) c.2452G>A n.9083G>A | gnomAD v4 |
19 | g.38510565G>C | CA405683504 | RYR1 | c.9000G>C (p.Lys3000Asn) c.8997G>C (p.Lys2999Asn) c.2452G>C n.9083G>C | |
19 | g.38510565G>T | CA405683506 | RYR1 | c.9000G>T (p.Lys3000Asn) c.8997G>T (p.Lys2999Asn) c.2452G>T n.9083G>T | |
19 | g.38510566G>A | CA308123148 | RYR1 | c.9000+1G>A (n.9000+1G>A) c.8997+1G>A (n.8997+1G>A) c.2452+1G>A n.9083+1G>A | ClinVar dbSNP |
19 | g.38510566G>C | CA405683508 | RYR1 | c.9000+1G>C (n.9000+1G>C) c.8997+1G>C (n.8997+1G>C) c.2452+1G>C n.9083+1G>C | |
19 | g.38510566G= | CA2335058818 | RYR1 | c.9000+1G= (n.9000+1G=) c.8997+1G= (n.8997+1G=) c.2452+1G= n.9083+1G= | |
19 | g.38510566G>T | CA024959 | RYR1 | c.9000+1G>T (n.9000+1G>T) c.8997+1G>T (n.8997+1G>T) c.2452+1G>T n.9083+1G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38510567T>A | CA405683511 | RYR1 | c.9000+2T>A (n.9000+2T>A) c.8997+2T>A (n.8997+2T>A) c.2452+2T>A n.9083+2T>A | |
19 | g.38510567T>C | CA405683515 | RYR1 | c.9000+2T>C (n.9000+2T>C) c.8997+2T>C (n.8997+2T>C) c.2452+2T>C n.9083+2T>C | |
19 | g.38510567T>G | CA405683513 | RYR1 | c.9000+2T>G (n.9000+2T>G) c.8997+2T>G (n.8997+2T>G) c.2452+2T>G n.9083+2T>G | |
19 | g.38510568G>A | CA2580097165 | RYR1 | c.9000+3G>A (n.9000+3G>A) c.8997+3G>A (n.8997+3G>A) c.2452+3G>A n.9083+3G>A | ClinVar |
19 | g.38510571_38510572dup | CA2584902811 | RYR1 | c.9000+6_9000+7dup (n.9000+6_9000+7dup) c.8997+6_8997+7dup (n.8997+6_8997+7dup) c.2452+6_2452+7dup n.9083+6_9083+7dup | gnomAD v4 |
19 | g.38510570G>T | CA2584902812 | RYR1 | c.9000+5G>T (n.9000+5G>T) c.8997+5G>T (n.8997+5G>T) c.2452+5G>T n.9083+5G>T | gnomAD v4 |
19 | g.38510572G>A | CA633066675 | RYR1 | c.9000+7G>A (n.9000+7G>A) c.8997+7G>A (n.8997+7G>A) c.2452+7G>A n.9083+7G>A | dbSNP gnomAD v2 |
19 | g.38510572G>C | CA2335058820 | RYR1 | c.9000+7G>C (n.9000+7G>C) c.8997+7G>C (n.8997+7G>C) c.2452+7G>C n.9083+7G>C | dbSNP |
19 | g.38510572G= | CA2335058819 | RYR1 | c.9000+7G= (n.9000+7G=) c.8997+7G= (n.8997+7G=) c.2452+7G= n.9083+7G= | |
19 | g.38510573G>A | CA2584902813 | RYR1 | c.9000+8G>A (n.9000+8G>A) c.8997+8G>A (n.8997+8G>A) c.2452+8G>A n.9083+8G>A | gnomAD v4 |
19 | g.38510574T>A | CA2576771355 | RYR1 | c.9000+9T>A (n.9000+9T>A) c.8997+9T>A (n.8997+9T>A) c.2452+9T>A n.9083+9T>A |