Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38500855del | CA995716238 | RYR1 | c.7479del (p.Phe2494SerfsTer?) c.7476del (p.Phe2493SerfsTer?) c.931del n.7562del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500855C>A | CA507354018 | RYR1 | c.7479C>A (p.Ser2493=) c.7476C>A (p.Ser2492=) c.931C>A n.7562C>A | |
19 | g.38500855C= | CA2335053468 | RYR1 | c.7479C= (p.Ser2493=) c.7476C= (p.Ser2492=) c.931C= n.7562C= | |
19 | g.38500855C>G | CA507354019 | RYR1 | c.7479C>G (p.Ser2493=) c.7476C>G (p.Ser2492=) c.931C>G n.7562C>G | ClinVar gnomAD v4 |
19 | g.38500855C>T | CA507354020 | RYR1 | c.7479C>T (p.Ser2493=) c.7476C>T (p.Ser2492=) c.931C>T n.7562C>T | dbSNP |
19 | g.38500856T>A | CA069709 | RYR1 | c.7480T>A (p.Phe2494Ile) c.7477T>A (p.Phe2493Ile) c.932T>A n.7563T>A | dbSNP ExAC gnomAD v2 |
19 | g.38500856T>C | CA405670293 | RYR1 | c.7480T>C (p.Phe2494Leu) c.7477T>C (p.Phe2493Leu) c.932T>C n.7563T>C | |
19 | g.38500856T>G | CA405670294 | RYR1 | c.7480T>G (p.Phe2494Val) c.7477T>G (p.Phe2493Val) c.932T>G n.7563T>G | |
19 | g.38500856T= | CA2335053470 | RYR1 | c.7480T= (p.Phe2494=) c.7477T= (p.Phe2493=) c.932T= n.7563T= | |
19 | g.38500856_38500859delinsTTCG | CA2335053469 | RYR1 | c.7480_7483delinsTTCG (p.Phe2494=) c.7477_7480delinsTTCG (p.Phe2493=) c.932_935delinsTTCG n.7563_7566delinsTTCG | |
19 | g.38500857T>A | CA405670295 | RYR1 | c.7481T>A (p.Phe2494Tyr) c.7478T>A (p.Phe2493Tyr) c.933T>A n.7564T>A | |
19 | g.38500857T>C | CA405670296 | RYR1 | c.7481T>C (p.Phe2494Ser) c.7478T>C (p.Phe2493Ser) c.933T>C n.7564T>C | |
19 | g.38500857T>G | CA082448 | RYR1 | c.7481T>G (p.Phe2494Cys) c.7478T>G (p.Phe2493Cys) c.933T>G n.7564T>G | |
19 | g.38500857_38500859delinsTCG | CA2335053472 | RYR1 | c.7481_7483delinsTCG (p.Phe2494=) c.7478_7480delinsTCG (p.Phe2493=) c.933_935delinsTCG n.7564_7566delinsTCG | |
19 | g.38500858_38500860del | CA2335053471 | RYR1 | c.7482_7484del (p.Phe2494_Val2495delinsLeu) c.7479_7481del (p.Phe2493_Val2494delinsLeu) c.934_936del n.7565_7567del | dbSNP |
19 | g.38500858C>A | CA405670297 | RYR1 | c.7482C>A (p.Phe2494Leu) c.7479C>A (p.Phe2493Leu) c.934C>A n.7565C>A | |
19 | g.38500858C= | CA2335053473 | RYR1 | c.7482C= (p.Phe2494=) c.7479C= (p.Phe2493=) c.934C= n.7565C= | |
19 | g.38500858C>G | CA069713 | RYR1 | c.7482C>G (p.Phe2494Leu) c.7479C>G (p.Phe2493Leu) c.934C>G n.7565C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500858C>T | CA069717 | RYR1 | c.7482C>T (p.Phe2494=) c.7479C>T (p.Phe2493=) c.934C>T n.7565C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38500858_38500859del | CA995716251 | RYR1 | c.7482_7483del (p.Val2495AlafsTer?) c.7479_7480del (p.Val2494AlafsTer?) c.934_935del n.7565_7566del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500859G>A | CA082467 | RYR1 | c.7483G>A (p.Val2495Met) c.7480G>A (p.Val2494Met) c.935G>A n.7566G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500859G>C | CA405670298 | RYR1 | c.7483G>C (p.Val2495Leu) c.7480G>C (p.Val2494Leu) c.935G>C n.7566G>C | dbSNP gnomAD v4 |
19 | g.38500859G= | CA2335053474 | RYR1 | c.7483G= (p.Val2495=) c.7480G= (p.Val2494=) c.935G= n.7566G= | |
19 | g.38500859G>T | CA405670299 | RYR1 | c.7483G>T (p.Val2495Leu) c.7480G>T (p.Val2494Leu) c.935G>T n.7566G>T | |
19 | g.38500860T>A | CA405670300 | RYR1 | c.7484T>A (p.Val2495Glu) c.7481T>A (p.Val2494Glu) c.936T>A n.7567T>A | |
19 | g.38500860T>C | CA405670301 | RYR1 | c.7484T>C (p.Val2495Ala) c.7481T>C (p.Val2494Ala) c.936T>C n.7567T>C | |
19 | g.38500860T>G | CA405670302 | RYR1 | c.7484T>G (p.Val2495Gly) c.7481T>G (p.Val2494Gly) c.936T>G n.7567T>G | |
19 | g.38500861G>A | CA507354027 | RYR1 | c.7485G>A (p.Val2495=) c.7482G>A (p.Val2494=) c.937G>A n.7568G>A | |
19 | g.38500861G>C | CA507354028 | RYR1 | c.7485G>C (p.Val2495=) c.7482G>C (p.Val2494=) c.937G>C n.7568G>C | |
19 | g.38500861G>T | CA507354029 | RYR1 | c.7485G>T (p.Val2495=) c.7482G>T (p.Val2494=) c.937G>T n.7568G>T | |
19 | g.38500862C>A | CA405670303 | RYR1 | c.7486C>A (p.Pro2496Thr) c.7483C>A (p.Pro2495Thr) c.938C>A n.7569C>A | |
19 | g.38500862C>G | CA405670304 | RYR1 | c.7486C>G (p.Pro2496Ala) c.7483C>G (p.Pro2495Ala) c.938C>G n.7569C>G | |
19 | g.38500862C>T | CA405670305 | RYR1 | c.7486C>T (p.Pro2496Ser) c.7483C>T (p.Pro2495Ser) c.938C>T n.7569C>T | ClinVar |
19 | g.38500863C>A | CA405670306 | RYR1 | c.7487C>A (p.Pro2496Gln) c.7484C>A (p.Pro2495Gln) c.939C>A n.7570C>A | |
19 | g.38500863C= | CA2335053475 | RYR1 | c.7487C= (p.Pro2496=) c.7484C= (p.Pro2495=) c.939C= n.7570C= | |
19 | g.38500863C>G | CA024804 | RYR1 | c.7487C>G (p.Pro2496Arg) c.7484C>G (p.Pro2495Arg) c.939C>G n.7570C>G | ClinVar dbSNP gnomAD v4 |
19 | g.38500863C>T | CA024807 | RYR1 | c.7487C>T (p.Pro2496Leu) c.7484C>T (p.Pro2495Leu) c.939C>T n.7570C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500864G>A | CA069727 | RYR1 | c.7488G>A (p.Pro2496=) c.7485G>A (p.Pro2495=) c.940G>A n.7571G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500864G>C | CA507354032 | RYR1 | c.7488G>C (p.Pro2496=) c.7485G>C (p.Pro2495=) c.940G>C n.7571G>C | |
19 | g.38500864G= | CA2335053476 | RYR1 | c.7488G= (p.Pro2496=) c.7485G= (p.Pro2495=) c.940G= n.7571G= | |
19 | g.38500864G>T | CA507354033 | RYR1 | c.7488G>T (p.Pro2496=) c.7485G>T (p.Pro2495=) c.940G>T n.7571G>T | gnomAD v4 |
19 | g.38500865G>A | CA405670307 | RYR1 | c.7489G>A (p.Asp2497Asn) c.7486G>A (p.Asp2496Asn) c.941G>A n.7572G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500865G>C | CA405670308 | RYR1 | c.7489G>C (p.Asp2497His) c.7486G>C (p.Asp2496His) c.941G>C n.7572G>C | ClinVar dbSNP |
19 | g.38500865G= | CA2335053477 | RYR1 | c.7489G= (p.Asp2497=) c.7486G= (p.Asp2496=) c.941G= n.7572G= | |
19 | g.38500865G>T | CA405670309 | RYR1 | c.7489G>T (p.Asp2497Tyr) c.7486G>T (p.Asp2496Tyr) c.941G>T n.7572G>T | |
19 | g.38500866A>C | CA405670310 | RYR1 | c.7490A>C (p.Asp2497Ala) c.7487A>C (p.Asp2496Ala) c.942A>C n.7573A>C | |
19 | g.38500866A>G | CA405670311 | RYR1 | c.7490A>G (p.Asp2497Gly) c.7487A>G (p.Asp2496Gly) c.942A>G n.7573A>G | |
19 | g.38500866A>T | CA405670312 | RYR1 | c.7490A>T (p.Asp2497Val) c.7487A>T (p.Asp2496Val) c.942A>T n.7573A>T | |
19 | g.38500867C>A | CA405670313 | RYR1 | c.7491C>A (p.Asp2497Glu) c.7488C>A (p.Asp2496Glu) c.943C>A n.7574C>A | gnomAD v4 |
19 | g.38500867C>G | CA405670314 | RYR1 | c.7491C>G (p.Asp2497Glu) c.7488C>G (p.Asp2496Glu) c.943C>G n.7574C>G | gnomAD v4 |
19 | g.38500867C>T | CA507354035 | RYR1 | c.7491C>T (p.Asp2497=) c.7488C>T (p.Asp2496=) c.943C>T n.7574C>T | |
19 | g.38500868C>A | CA405670315 | RYR1 | c.7492C>A (p.His2498Asn) c.7489C>A (p.His2497Asn) c.944C>A n.7575C>A | |
19 | g.38500868C>G | CA405670316 | RYR1 | c.7492C>G (p.His2498Asp) c.7489C>G (p.His2497Asp) c.944C>G n.7575C>G | |
19 | g.38500868C>T | CA405670317 | RYR1 | c.7492C>T (p.His2498Tyr) c.7489C>T (p.His2497Tyr) c.944C>T n.7575C>T | |
19 | g.38500869A>C | CA405670319 | RYR1 | c.7493A>C (p.His2498Pro) c.7490A>C (p.His2497Pro) c.945A>C n.7576A>C | |
19 | g.38500869A>G | CA405670320 | RYR1 | c.7493A>G (p.His2498Arg) c.7490A>G (p.His2497Arg) c.945A>G n.7576A>G | gnomAD v4 |
19 | g.38500869A>T | CA405670318 | RYR1 | c.7493A>T (p.His2498Leu) c.7490A>T (p.His2497Leu) c.945A>T n.7576A>T | |
19 | g.38500870C>A | CA405670322 | RYR1 | c.7494C>A (p.His2498Gln) c.7491C>A (p.His2497Gln) c.946C>A n.7577C>A | |
19 | g.38500870C= | CA2335053478 | RYR1 | c.7494C= (p.His2498=) c.7491C= (p.His2497=) c.946C= n.7577C= | |
19 | g.38500870C>G | CA405670321 | RYR1 | c.7494C>G (p.His2498Gln) c.7491C>G (p.His2497Gln) c.946C>G n.7577C>G | |
19 | g.38500870C>T | CA069730 | RYR1 | c.7494C>T (p.His2498=) c.7491C>T (p.His2497=) c.946C>T n.7577C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500871A>C | CA405670323 | RYR1 | c.7495A>C (p.Lys2499Gln) c.7492A>C (p.Lys2498Gln) c.947A>C n.7578A>C | |
19 | g.38500871A>G | CA405670324 | RYR1 | c.7495A>G (p.Lys2499Glu) c.7492A>G (p.Lys2498Glu) c.947A>G n.7578A>G | |
19 | g.38500871A>T | CA405670325 | RYR1 | c.7495A>T (p.Lys2499Ter) c.7492A>T (p.Lys2498Ter) c.947A>T n.7578A>T | |
19 | g.38500871_38500872dup | CA2825002782 | RYR1 | c.7495_7496dup (p.Ala2500ArgfsTer?) c.7492_7493dup (p.Ala2499ArgfsTer?) c.947_948dup n.7578_7579dup | ClinVar |
19 | g.38500872A= | CA2335053479 | RYR1 | c.7496A= (p.Lys2499=) c.7493A= (p.Lys2498=) c.948A= n.7579A= | |
19 | g.38500872A>C | CA405670326 | RYR1 | c.7496A>C (p.Lys2499Thr) c.7493A>C (p.Lys2498Thr) c.948A>C n.7579A>C | |
19 | g.38500872A>G | CA405670327 | RYR1 | c.7496A>G (p.Lys2499Arg) c.7493A>G (p.Lys2498Arg) c.948A>G n.7579A>G | ClinVar dbSNP gnomAD v4 |
19 | g.38500872A>T | CA405670328 | RYR1 | c.7496A>T (p.Lys2499Met) c.7493A>T (p.Lys2498Met) c.948A>T n.7579A>T | |
19 | g.38500873G>A | CA507354038 | RYR1 | c.7497G>A (p.Lys2499=) c.7494G>A (p.Lys2498=) c.949G>A n.7580G>A | |
19 | g.38500873G>C | CA405670329 | RYR1 | c.7497G>C (p.Lys2499Asn) c.7494G>C (p.Lys2498Asn) c.949G>C n.7580G>C | |
19 | g.38500873G= | CA2335053480 | RYR1 | c.7497G= (p.Lys2499=) c.7494G= (p.Lys2498=) c.949G= n.7580G= | |
19 | g.38500873G>T | CA405670330 | RYR1 | c.7497G>T (p.Lys2499Asn) c.7494G>T (p.Lys2498Asn) c.949G>T n.7580G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38500874G>A | CA405670331 | RYR1 | c.7498G>A (p.Ala2500Thr) c.7495G>A (p.Ala2499Thr) c.950G>A n.7581G>A | dbSNP gnomAD v4 |
19 | g.38500874G>C | CA405670332 | RYR1 | c.7498G>C (p.Ala2500Pro) c.7495G>C (p.Ala2499Pro) c.950G>C n.7581G>C | |
19 | g.38500874G= | CA2335053481 | RYR1 | c.7498G= (p.Ala2500=) c.7495G= (p.Ala2499=) c.950G= n.7581G= | |
19 | g.38500874G>T | CA405670333 | RYR1 | c.7498G>T (p.Ala2500Ser) c.7495G>T (p.Ala2499Ser) c.950G>T n.7581G>T | |
19 | g.38500875C>A | CA405670335 | RYR1 | c.7499C>A (p.Ala2500Glu) c.7496C>A (p.Ala2499Glu) c.951C>A n.7582C>A | dbSNP gnomAD v4 |
19 | g.38500875C= | CA2335053482 | RYR1 | c.7499C= (p.Ala2500=) c.7496C= (p.Ala2499=) c.951C= n.7582C= | |
19 | g.38500875C>G | CA405670334 | RYR1 | c.7499C>G (p.Ala2500Gly) c.7496C>G (p.Ala2499Gly) c.951C>G n.7582C>G | |
19 | g.38500875C>T | CA069734 | RYR1 | c.7499C>T (p.Ala2500Val) c.7496C>T (p.Ala2499Val) c.951C>T n.7582C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500876G>A | CA024810 | RYR1 | c.7500G>A (p.Ala2500=) c.7497G>A (p.Ala2499=) c.952G>A n.7583G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500876G>C | CA507354041 | RYR1 | c.7500G>C (p.Ala2500=) c.7497G>C (p.Ala2499=) c.952G>C n.7583G>C | |
19 | g.38500876G= | CA2335053483 | RYR1 | c.7500G= (p.Ala2500=) c.7497G= (p.Ala2499=) c.952G= n.7583G= | |
19 | g.38500876G>T | CA024813 | RYR1 | c.7500G>T (p.Ala2500=) c.7497G>T (p.Ala2499=) c.952G>T n.7583G>T | ClinVar dbSNP |
19 | g.38500877T>A | CA405670336 | RYR1 | c.7501T>A (p.Ser2501Thr) c.7498T>A (p.Ser2500Thr) c.953T>A n.7584T>A | |
19 | g.38500877T>C | CA405670337 | RYR1 | c.7501T>C (p.Ser2501Pro) c.7498T>C (p.Ser2500Pro) c.953T>C n.7584T>C | dbSNP |
19 | g.38500877T>G | CA405670338 | RYR1 | c.7501T>G (p.Ser2501Ala) c.7498T>G (p.Ser2500Ala) c.953T>G n.7584T>G | |
19 | g.38500877T= | CA2335053484 | RYR1 | c.7501T= (p.Ser2501=) c.7498T= (p.Ser2500=) c.953T= n.7584T= | |
19 | g.38500878C>A | CA405670339 | RYR1 | c.7502C>A (p.Ser2501Tyr) c.7499C>A (p.Ser2500Tyr) c.954C>A n.7585C>A | |
19 | g.38500878C= | CA2335053485 | RYR1 | c.7502C= (p.Ser2501=) c.7499C= (p.Ser2500=) c.954C= n.7585C= | |
19 | g.38500878C>G | CA405670340 | RYR1 | c.7502C>G (p.Ser2501Cys) c.7499C>G (p.Ser2500Cys) c.954C>G n.7585C>G | |
19 | g.38500878C>T | CA082474 | RYR1 | c.7502C>T (p.Ser2501Phe) c.7499C>T (p.Ser2500Phe) c.954C>T n.7585C>T | dbSNP COSMIC |
19 | g.38500879C>A | CA507354042 | RYR1 | c.7503C>A (p.Ser2501=) c.7500C>A (p.Ser2500=) c.955C>A n.7586C>A | |
19 | g.38500879C= | CA2335053486 | RYR1 | c.7503C= (p.Ser2501=) c.7500C= (p.Ser2500=) c.955C= n.7586C= | |
19 | g.38500879C>G | CA507354043 | RYR1 | c.7503C>G (p.Ser2501=) c.7500C>G (p.Ser2500=) c.955C>G n.7586C>G | |
19 | g.38500879C>T | CA507354044 | RYR1 | c.7503C>T (p.Ser2501=) c.7500C>T (p.Ser2500=) c.955C>T n.7586C>T | dbSNP gnomAD v4 |
19 | g.38500880A>C | CA405670341 | RYR1 | c.7504A>C (p.Met2502Leu) c.7501A>C (p.Met2501Leu) c.956A>C n.7587A>C | |
19 | g.38500880A>G | CA405670342 | RYR1 | c.7504A>G (p.Met2502Val) c.7501A>G (p.Met2501Val) c.956A>G n.7587A>G | |
19 | g.38500880A>T | CA405670343 | RYR1 | c.7504A>T (p.Met2502Leu) c.7501A>T (p.Met2501Leu) c.956A>T n.7587A>T | |
19 | g.38500881T>A | CA405670345 | RYR1 | c.7505T>A (p.Met2502Lys) c.7502T>A (p.Met2501Lys) c.957T>A n.7588T>A | |
19 | g.38500881T>C | CA405670346 | RYR1 | c.7505T>C (p.Met2502Thr) c.7502T>C (p.Met2501Thr) c.957T>C n.7588T>C | gnomAD v4 |
19 | g.38500881T>G | CA405670344 | RYR1 | c.7505T>G (p.Met2502Arg) c.7502T>G (p.Met2501Arg) c.957T>G n.7588T>G | |
19 | g.38500882G>A | CA405670347 | RYR1 | c.7506G>A (p.Met2502Ile) c.7503G>A (p.Met2501Ile) c.958G>A n.7589G>A | |
19 | g.38500882G>C | CA405670348 | RYR1 | c.7506G>C (p.Met2502Ile) c.7503G>C (p.Met2501Ile) c.958G>C n.7589G>C | |
19 | g.38500882G>T | CA405670349 | RYR1 | c.7506G>T (p.Met2502Ile) c.7503G>T (p.Met2501Ile) c.958G>T n.7589G>T | |
19 | g.38500883G>A | CA405670350 | RYR1 | c.7507G>A (p.Val2503Met) c.7504G>A (p.Val2502Met) c.959G>A n.7590G>A | gnomAD v4 |
19 | g.38500883G>C | CA405670351 | RYR1 | c.7507G>C (p.Val2503Leu) c.7504G>C (p.Val2502Leu) c.959G>C n.7590G>C | |
19 | g.38500883G>T | CA405670352 | RYR1 | c.7507G>T (p.Val2503Leu) c.7504G>T (p.Val2502Leu) c.959G>T n.7590G>T | |
19 | g.38500884T>A | CA405670353 | RYR1 | c.7508T>A (p.Val2503Glu) c.7505T>A (p.Val2502Glu) c.960T>A n.7591T>A | |
19 | g.38500884T>C | CA069741 | RYR1 | c.7508T>C (p.Val2503Ala) c.7505T>C (p.Val2502Ala) c.960T>C n.7591T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500884T>G | CA405670354 | RYR1 | c.7508T>G (p.Val2503Gly) c.7505T>G (p.Val2502Gly) c.960T>G n.7591T>G | |
19 | g.38500884T= | CA2335053487 | RYR1 | c.7508T= (p.Val2503=) c.7505T= (p.Val2502=) c.960T= n.7591T= | |
19 | g.38500885G>A | CA507354049 | RYR1 | c.7509G>A (p.Val2503=) c.7506G>A (p.Val2502=) c.961G>A n.7592G>A | |
19 | g.38500885G>C | CA069744 | RYR1 | c.7509G>C (p.Val2503=) c.7506G>C (p.Val2502=) c.961G>C n.7592G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500885G= | CA2335053488 | RYR1 | c.7509G= (p.Val2503=) c.7506G= (p.Val2502=) c.961G= n.7592G= | |
19 | g.38500885G>T | CA507354050 | RYR1 | c.7509G>T (p.Val2503=) c.7506G>T (p.Val2502=) c.961G>T n.7592G>T | |
19 | g.38500886C>A | CA405670355 | RYR1 | c.7510C>A (p.Leu2504Ile) c.7507C>A (p.Leu2503Ile) c.962C>A n.7593C>A | |
19 | g.38500886C>G | CA405670356 | RYR1 | c.7510C>G (p.Leu2504Val) c.7507C>G (p.Leu2503Val) c.962C>G n.7593C>G | |
19 | g.38500886C>T | CA405670357 | RYR1 | c.7510C>T (p.Leu2504Phe) c.7507C>T (p.Leu2503Phe) c.962C>T n.7593C>T | ClinVar dbSNP |
19 | g.38500887T>A | CA405670359 | RYR1 | c.7511T>A (p.Leu2504His) c.7508T>A (p.Leu2503His) c.963T>A n.7594T>A | |
19 | g.38500887T>C | CA082476 | RYR1 | c.7511T>C (p.Leu2504Pro) c.7508T>C (p.Leu2503Pro) c.963T>C n.7594T>C | dbSNP |
19 | g.38500887T>G | CA405670358 | RYR1 | c.7511T>G (p.Leu2504Arg) c.7508T>G (p.Leu2503Arg) c.963T>G n.7594T>G | |
19 | g.38500887T= | CA2335053489 | RYR1 | c.7511T= (p.Leu2504=) c.7508T= (p.Leu2503=) c.963T= n.7594T= | |
19 | g.38500888C>A | CA507354051 | RYR1 | c.7512C>A (p.Leu2504=) c.7509C>A (p.Leu2503=) c.964C>A n.7595C>A | |
19 | g.38500888C>G | CA507354052 | RYR1 | c.7512C>G (p.Leu2504=) c.7509C>G (p.Leu2503=) c.964C>G n.7595C>G | |
19 | g.38500888C>T | CA507354053 | RYR1 | c.7512C>T (p.Leu2504=) c.7509C>T (p.Leu2503=) c.964C>T n.7595C>T | |
19 | g.38500889T>A | CA405670360 | RYR1 | c.7513T>A (p.Phe2505Ile) c.7510T>A (p.Phe2504Ile) c.965T>A n.7596T>A | |
19 | g.38500889T>C | CA405670361 | RYR1 | c.7513T>C (p.Phe2505Leu) c.7510T>C (p.Phe2504Leu) c.965T>C n.7596T>C | dbSNP |
19 | g.38500889T>G | CA405670362 | RYR1 | c.7513T>G (p.Phe2505Val) c.7510T>G (p.Phe2504Val) c.965T>G n.7596T>G | |
19 | g.38500889T= | CA2335053490 | RYR1 | c.7513T= (p.Phe2505=) c.7510T= (p.Phe2504=) c.965T= n.7596T= | |
19 | g.38500890T>A | CA405670363 | RYR1 | c.7514T>A (p.Phe2505Tyr) c.7511T>A (p.Phe2504Tyr) c.966T>A n.7597T>A | |
19 | g.38500890T>C | CA405670364 | RYR1 | c.7514T>C (p.Phe2505Ser) c.7511T>C (p.Phe2504Ser) c.966T>C n.7597T>C | |
19 | g.38500890T>G | CA405670365 | RYR1 | c.7514T>G (p.Phe2505Cys) c.7511T>G (p.Phe2504Cys) c.966T>G n.7597T>G | |
19 | g.38500891C>A | CA405670366 | RYR1 | c.7515C>A (p.Phe2505Leu) c.7512C>A (p.Phe2504Leu) c.967C>A n.7598C>A | |
19 | g.38500891C>G | CA405670368 | RYR1 | c.7515C>G (p.Phe2505Leu) c.7512C>G (p.Phe2504Leu) c.967C>G n.7598C>G | |
19 | g.38500891C>T | CA507354054 | RYR1 | c.7515C>T (p.Phe2505=) c.7512C>T (p.Phe2504=) c.967C>T n.7598C>T | ClinVar |
19 | g.38500892C>A | CA405670369 | RYR1 | c.7516C>A (p.Leu2506Met) c.7513C>A (p.Leu2505Met) c.968C>A n.7599C>A | |
19 | g.38500892C>G | CA405670370 | RYR1 | c.7516C>G (p.Leu2506Val) c.7513C>G (p.Leu2505Val) c.968C>G n.7599C>G | |
19 | g.38500892C>T | CA507354055 | RYR1 | c.7516C>T (p.Leu2506=) c.7513C>T (p.Leu2505=) c.968C>T n.7599C>T | |
19 | g.38500893T>A | CA405670371 | RYR1 | c.7517T>A (p.Leu2506Gln) c.7514T>A (p.Leu2505Gln) c.969T>A n.7600T>A | |
19 | g.38500893T>C | CA405670372 | RYR1 | c.7517T>C (p.Leu2506Pro) c.7514T>C (p.Leu2505Pro) c.969T>C n.7600T>C | |
19 | g.38500893T>G | CA405670373 | RYR1 | c.7517T>G (p.Leu2506Arg) c.7514T>G (p.Leu2505Arg) c.969T>G n.7600T>G | |
19 | g.38500894G>A | CA507354056 | RYR1 | c.7518G>A (p.Leu2506=) c.7515G>A (p.Leu2505=) c.970G>A n.7601G>A | |
19 | g.38500894G>C | CA507354057 | RYR1 | c.7518G>C (p.Leu2506=) c.7515G>C (p.Leu2505=) c.970G>C n.7601G>C | |
19 | g.38500894G>T | CA507354058 | RYR1 | c.7518G>T (p.Leu2506=) c.7515G>T (p.Leu2505=) c.970G>T n.7601G>T | COSMIC |
19 | g.38500895G>A | CA405670375 | RYR1 | c.7519G>A (p.Asp2507Asn) c.7516G>A (p.Asp2506Asn) c.971G>A n.7602G>A | |
19 | g.38500895G>C | CA405670376 | RYR1 | c.7519G>C (p.Asp2507His) c.7516G>C (p.Asp2506His) c.971G>C n.7602G>C | |
19 | g.38500895G= | CA2335053491 | RYR1 | c.7519G= (p.Asp2507=) c.7516G= (p.Asp2506=) c.971G= n.7602G= | |
19 | g.38500895G>T | CA405670374 | RYR1 | c.7519G>T (p.Asp2507Tyr) c.7516G>T (p.Asp2506Tyr) c.971G>T n.7602G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500896A>C | CA405670377 | RYR1 | c.7520A>C (p.Asp2507Ala) c.7517A>C (p.Asp2506Ala) c.972A>C n.7603A>C | |
19 | g.38500896A>G | CA405670378 | RYR1 | c.7520A>G (p.Asp2507Gly) c.7517A>G (p.Asp2506Gly) c.972A>G n.7603A>G | |
19 | g.38500896A>T | CA405670379 | RYR1 | c.7520A>T (p.Asp2507Val) c.7517A>T (p.Asp2506Val) c.972A>T n.7603A>T | |
19 | g.38500897C>A | CA405670380 | RYR1 | c.7521C>A (p.Asp2507Glu) c.7518C>A (p.Asp2506Glu) c.973C>A n.7604C>A | |
19 | g.38500897C= | CA2335053492 | RYR1 | c.7521C= (p.Asp2507=) c.7518C= (p.Asp2506=) c.973C= n.7604C= | |
19 | g.38500897C>G | CA405670381 | RYR1 | c.7521C>G (p.Asp2507Glu) c.7518C>G (p.Asp2506Glu) c.973C>G n.7604C>G | ClinVar |
19 | g.38500897C>T | CA308110650 | RYR1 | c.7521C>T (p.Asp2507=) c.7518C>T (p.Asp2506=) c.973C>T n.7604C>T | dbSNP gnomAD v4 COSMIC |
19 | g.38500898C>A | CA405670382 | RYR1 | c.7522C>A (p.Arg2508Ser) c.7519C>A (p.Arg2507Ser) c.974C>A n.7605C>A | |
19 | g.38500898C= | CA2335053493 | RYR1 | c.7522C= (p.Arg2508=) c.7519C= (p.Arg2507=) c.974C= n.7605C= | |
19 | g.38500898C>G | CA024816 | RYR1 | c.7522C>G (p.Arg2508Gly) c.7519C>G (p.Arg2507Gly) c.974C>G n.7605C>G | ClinVar dbSNP |
19 | g.38500898C>T | CA024819 | RYR1 | c.7522C>T (p.Arg2508Cys) c.7519C>T (p.Arg2507Cys) c.974C>T n.7605C>T | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.38500899G>A | CA024821 | RYR1 | c.7523G>A (p.Arg2508His) c.7520G>A (p.Arg2507His) c.975G>A n.7606G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500899G>C | CA405670383 | RYR1 | c.7523G>C (p.Arg2508Pro) c.7520G>C (p.Arg2507Pro) c.975G>C n.7606G>C | |
19 | g.38500899G= | CA2335053494 | RYR1 | c.7523G= (p.Arg2508=) c.7520G= (p.Arg2507=) c.975G= n.7606G= | |
19 | g.38500899G>T | CA405670384 | RYR1 | c.7523G>T (p.Arg2508Leu) c.7520G>T (p.Arg2507Leu) c.975G>T n.7606G>T | dbSNP |
19 | g.38500900T>A | CA507354063 | RYR1 | c.7524T>A (p.Arg2508=) c.7521T>A (p.Arg2507=) c.976T>A n.7607T>A | |
19 | g.38500900T>C | CA507354062 | RYR1 | c.7524T>C (p.Arg2508=) c.7521T>C (p.Arg2507=) c.976T>C n.7607T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500900T>G | CA10587318 | RYR1 | c.7524T>G (p.Arg2508=) c.7521T>G (p.Arg2507=) c.976T>G n.7607T>G | ClinVar dbSNP |
19 | g.38500900T= | CA2335053495 | RYR1 | c.7524T= (p.Arg2508=) c.7521T= (p.Arg2507=) c.976T= n.7607T= | |
19 | g.38500901G>A | CA405670385 | RYR1 | c.7525G>A (p.Val2509Met) c.7522G>A (p.Val2508Met) c.977G>A n.7608G>A | |
19 | g.38500901G>C | CA405670386 | RYR1 | c.7525G>C (p.Val2509Leu) c.7522G>C (p.Val2508Leu) c.977G>C n.7608G>C | |
19 | g.38500901G>T | CA405670387 | RYR1 | c.7525G>T (p.Val2509Leu) c.7522G>T (p.Val2508Leu) c.977G>T n.7608G>T | |
19 | g.38500902T>A | CA405670388 | RYR1 | c.7526T>A (p.Val2509Glu) c.7523T>A (p.Val2508Glu) c.978T>A n.7609T>A | |
19 | g.38500902T>C | CA405670390 | RYR1 | c.7526T>C (p.Val2509Ala) c.7523T>C (p.Val2508Ala) c.978T>C n.7609T>C | ClinVar gnomAD v4 |
19 | g.38500902T>G | CA405670389 | RYR1 | c.7526T>G (p.Val2509Gly) c.7523T>G (p.Val2508Gly) c.978T>G n.7609T>G | ClinVar dbSNP |
19 | g.38500903G>A | CA024824 | RYR1 | c.7527G>A (p.Val2509=) c.7524G>A (p.Val2508=) c.979G>A n.7610G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500903G>C | CA507354065 | RYR1 | c.7527G>C (p.Val2509=) c.7524G>C (p.Val2508=) c.979G>C n.7610G>C | |
19 | g.38500903G= | CA2335053496 | RYR1 | c.7527G= (p.Val2509=) c.7524G= (p.Val2508=) c.979G= n.7610G= | |
19 | g.38500903G>T | CA507354066 | RYR1 | c.7527G>T (p.Val2509=) c.7524G>T (p.Val2508=) c.979G>T n.7610G>T | |
19 | g.38500904T>A | CA405670391 | RYR1 | c.7528T>A (p.Tyr2510Asn) c.7525T>A (p.Tyr2509Asn) c.980T>A n.7611T>A | gnomAD v4 |
19 | g.38500904T>C | CA024827 | RYR1 | c.7528T>C (p.Tyr2510His) c.7525T>C (p.Tyr2509His) c.980T>C n.7611T>C | ClinVar dbSNP |
19 | g.38500904T>G | CA405670392 | RYR1 | c.7528T>G (p.Tyr2510Asp) c.7525T>G (p.Tyr2509Asp) c.980T>G n.7611T>G | |
19 | g.38500904T= | CA2335053497 | RYR1 | c.7528T= (p.Tyr2510=) c.7525T= (p.Tyr2509=) c.980T= n.7611T= | |
19 | g.38500905A= | CA2335053498 | RYR1 | c.7529A= (p.Tyr2510=) c.7526A= (p.Tyr2509=) c.981A= n.7612A= | |
19 | g.38500905A>C | CA405670393 | RYR1 | c.7529A>C (p.Tyr2510Ser) c.7526A>C (p.Tyr2509Ser) c.981A>C n.7612A>C | gnomAD v4 |
19 | g.38500905A>G | CA069750 | RYR1 | c.7529A>G (p.Tyr2510Cys) c.7526A>G (p.Tyr2509Cys) c.981A>G n.7612A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500905A>T | CA405670394 | RYR1 | c.7529A>T (p.Tyr2510Phe) c.7526A>T (p.Tyr2509Phe) c.981A>T n.7612A>T | |
19 | g.38500906T>A | CA405670395 | RYR1 | c.7530T>A (p.Tyr2510Ter) c.7527T>A (p.Tyr2509Ter) c.982T>A n.7613T>A | |
19 | g.38500906T>C | CA507354068 | RYR1 | c.7530T>C (p.Tyr2510=) c.7527T>C (p.Tyr2509=) c.982T>C n.7613T>C | ClinVar gnomAD v4 |
19 | g.38500906T>G | CA405670396 | RYR1 | c.7530T>G (p.Tyr2510Ter) c.7527T>G (p.Tyr2509Ter) c.982T>G n.7613T>G | |
19 | g.38500907G>A | CA405670397 | RYR1 | c.7531G>A (p.Gly2511Ser) c.7528G>A (p.Gly2510Ser) c.983G>A n.7614G>A | |
19 | g.38500907G>C | CA405670398 | RYR1 | c.7531G>C (p.Gly2511Arg) c.7528G>C (p.Gly2510Arg) c.983G>C n.7614G>C | |
19 | g.38500907G>T | CA405670399 | RYR1 | c.7531G>T (p.Gly2511Cys) c.7528G>T (p.Gly2510Cys) c.983G>T n.7614G>T | |
19 | g.38500908G>A | CA405670400 | RYR1 | c.7532G>A (p.Gly2511Asp) c.7529G>A (p.Gly2510Asp) c.984G>A n.7615G>A | |
19 | g.38500908G>C | CA405670402 | RYR1 | c.7532G>C (p.Gly2511Ala) c.7529G>C (p.Gly2510Ala) c.984G>C n.7615G>C | |
19 | g.38500908G>T | CA405670401 | RYR1 | c.7532G>T (p.Gly2511Val) c.7529G>T (p.Gly2510Val) c.984G>T n.7615G>T | |
19 | g.38500909del | CA2584900554 | RYR1 | c.7533del (p.Ile2512SerfsTer19) c.7530del (p.Ile2511SerfsTer19) c.985del n.7616del | gnomAD v4 |
19 | g.38500909C>A | CA507354071 | RYR1 | c.7533C>A (p.Gly2511=) c.7530C>A (p.Gly2510=) c.985C>A n.7616C>A | |
19 | g.38500909C>G | CA507354072 | RYR1 | c.7533C>G (p.Gly2511=) c.7530C>G (p.Gly2510=) c.985C>G n.7616C>G | |
19 | g.38500909C>T | CA507354073 | RYR1 | c.7533C>T (p.Gly2511=) c.7530C>T (p.Gly2510=) c.985C>T n.7616C>T | |
19 | g.38500910A>C | CA405670403 | RYR1 | c.7534A>C (p.Ile2512Leu) c.7531A>C (p.Ile2511Leu) c.986A>C n.7617A>C | |
19 | g.38500910A>G | CA405670404 | RYR1 | c.7534A>G (p.Ile2512Val) c.7531A>G (p.Ile2511Val) c.986A>G n.7617A>G | gnomAD v4 |
19 | g.38500910A>T | CA405670405 | RYR1 | c.7534A>T (p.Ile2512Phe) c.7531A>T (p.Ile2511Phe) c.986A>T n.7617A>T | |
19 | g.38500911T>A | CA405670406 | RYR1 | c.7535T>A (p.Ile2512Asn) c.7532T>A (p.Ile2511Asn) c.987T>A n.7618T>A | |
19 | g.38500911T>C | CA405670407 | RYR1 | c.7535T>C (p.Ile2512Thr) c.7532T>C (p.Ile2511Thr) c.987T>C n.7618T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500911T>G | CA405670408 | RYR1 | c.7535T>G (p.Ile2512Ser) c.7532T>G (p.Ile2511Ser) c.987T>G n.7618T>G | |
19 | g.38500911T= | CA2335053499 | RYR1 | c.7535T= (p.Ile2512=) c.7532T= (p.Ile2511=) c.987T= n.7618T= | |
19 | g.38500912C>A | CA069754 | RYR1 | c.7536C>A (p.Ile2512=) c.7533C>A (p.Ile2511=) c.988C>A n.7619C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500912C= | CA2335053500 | RYR1 | c.7536C= (p.Ile2512=) c.7533C= (p.Ile2511=) c.988C= n.7619C= | |
19 | g.38500912C>G | CA405670409 | RYR1 | c.7536C>G (p.Ile2512Met) c.7533C>G (p.Ile2511Met) c.988C>G n.7619C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500912C>T | CA069757 | RYR1 | c.7536C>T (p.Ile2512=) c.7533C>T (p.Ile2511=) c.988C>T n.7619C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38500913G>A | CA405670410 | RYR1 | c.7537G>A (p.Glu2513Lys) c.7534G>A (p.Glu2512Lys) c.989G>A n.7620G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38500913G>C | CA405670411 | RYR1 | c.7537G>C (p.Glu2513Gln) c.7534G>C (p.Glu2512Gln) c.989G>C n.7620G>C | COSMIC |
19 | g.38500913G= | CA2335053501 | RYR1 | c.7537G= (p.Glu2513=) c.7534G= (p.Glu2512=) c.989G= n.7620G= | |
19 | g.38500913G>T | CA405670412 | RYR1 | c.7537G>T (p.Glu2513Ter) c.7534G>T (p.Glu2512Ter) c.989G>T n.7620G>T | COSMIC |
19 | g.38500914A>C | CA405670414 | RYR1 | c.7538A>C (p.Glu2513Ala) c.7535A>C (p.Glu2512Ala) c.990A>C n.7621A>C | |
19 | g.38500914A>G | CA405670415 | RYR1 | c.7538A>G (p.Glu2513Gly) c.7535A>G (p.Glu2512Gly) c.990A>G n.7621A>G | |
19 | g.38500914A>T | CA405670413 | RYR1 | c.7538A>T (p.Glu2513Val) c.7535A>T (p.Glu2512Val) c.990A>T n.7621A>T | |
19 | g.38500915G>A | CA507354061 | RYR1 | c.7539G>A (p.Glu2513=) c.7536G>A (p.Glu2512=) c.991G>A n.7622G>A | ClinVar dbSNP |
19 | g.38500915G>C | CA405670416 | RYR1 | c.7539G>C (p.Glu2513Asp) c.7536G>C (p.Glu2512Asp) c.991G>C n.7622G>C | gnomAD v4 |
19 | g.38500915G>T | CA405670417 | RYR1 | c.7539G>T (p.Glu2513Asp) c.7536G>T (p.Glu2512Asp) c.991G>T n.7622G>T | COSMIC |
19 | g.38500916A>C | CA405670418 | RYR1 | c.7540A>C (p.Asn2514His) c.7537A>C (p.Asn2513His) c.992A>C n.7623A>C | |
19 | g.38500916A>G | CA405670419 | RYR1 | c.7540A>G (p.Asn2514Asp) c.7537A>G (p.Asn2513Asp) c.992A>G n.7623A>G | |
19 | g.38500916A>T | CA405670420 | RYR1 | c.7540A>T (p.Asn2514Tyr) c.7537A>T (p.Asn2513Tyr) c.992A>T n.7623A>T | |
19 | g.38500917A>C | CA405670423 | RYR1 | c.7541A>C (p.Asn2514Thr) c.7538A>C (p.Asn2513Thr) c.993A>C n.7624A>C | gnomAD v4 |
19 | g.38500917A>G | CA405670421 | RYR1 | c.7541A>G (p.Asn2514Ser) c.7538A>G (p.Asn2513Ser) c.993A>G n.7624A>G | gnomAD v4 |
19 | g.38500917A>T | CA405670422 | RYR1 | c.7541A>T (p.Asn2514Ile) c.7538A>T (p.Asn2513Ile) c.993A>T n.7624A>T | |
19 | g.38500918C>A | CA405670424 | RYR1 | c.7542C>A (p.Asn2514Lys) c.7539C>A (p.Asn2513Lys) c.994C>A n.7625C>A | |
19 | g.38500918C>G | CA405670425 | RYR1 | c.7542C>G (p.Asn2514Lys) c.7539C>G (p.Asn2513Lys) c.994C>G n.7625C>G | |
19 | g.38500918C>T | CA507354064 | RYR1 | c.7542C>T (p.Asn2514=) c.7539C>T (p.Asn2513=) c.994C>T n.7625C>T | |
19 | g.38500919C>A | CA405670426 | RYR1 | c.7543C>A (p.Gln2515Lys) c.7540C>A (p.Gln2514Lys) c.995C>A n.7626C>A | ClinVar |
19 | g.38500919C= | CA2335053502 | RYR1 | c.7543C= (p.Gln2515=) c.7540C= (p.Gln2514=) c.995C= n.7626C= | |
19 | g.38500919C>G | CA405670427 | RYR1 | c.7543C>G (p.Gln2515Glu) c.7540C>G (p.Gln2514Glu) c.995C>G n.7626C>G | |
19 | g.38500919C>T | CA405670428 | RYR1 | c.7543C>T (p.Gln2515Ter) c.7540C>T (p.Gln2514Ter) c.995C>T n.7626C>T | ClinVar dbSNP |
19 | g.38500920A>C | CA405670431 | RYR1 | c.7544A>C (p.Gln2515Pro) c.7541A>C (p.Gln2514Pro) c.996A>C n.7627A>C | |
19 | g.38500920A>G | CA405670430 | RYR1 | c.7544A>G (p.Gln2515Arg) c.7541A>G (p.Gln2514Arg) c.996A>G n.7627A>G | |
19 | g.38500920A>T | CA405670429 | RYR1 | c.7544A>T (p.Gln2515Leu) c.7541A>T (p.Gln2514Leu) c.996A>T n.7627A>T | |
19 | g.38500921G>A | CA507354067 | RYR1 | c.7545G>A (p.Gln2515=) c.7542G>A (p.Gln2514=) c.997G>A n.7628G>A | |
19 | g.38500921G>C | CA405670432 | RYR1 | c.7545G>C (p.Gln2515His) c.7542G>C (p.Gln2514His) c.997G>C n.7628G>C | |
19 | g.38500921G>T | CA405670433 | RYR1 | c.7545G>T (p.Gln2515His) c.7542G>T (p.Gln2514His) c.997G>T n.7628G>T | |
19 | g.38500922G>A | CA405670434 | RYR1 | c.7546G>A (p.Asp2516Asn) c.7543G>A (p.Asp2515Asn) c.998G>A n.7629G>A | COSMIC |
19 | g.38500922G>C | CA405670436 | RYR1 | c.7546G>C (p.Asp2516His) c.7543G>C (p.Asp2515His) c.998G>C n.7629G>C | dbSNP |
19 | g.38500922G>T | CA405670435 | RYR1 | c.7546G>T (p.Asp2516Tyr) c.7543G>T (p.Asp2515Tyr) c.998G>T n.7629G>T | |
19 | g.38500923A>C | CA405670437 | RYR1 | c.7547A>C (p.Asp2516Ala) c.7544A>C (p.Asp2515Ala) c.999A>C n.7630A>C | |
19 | g.38500923A>G | CA405670438 | RYR1 | c.7547A>G (p.Asp2516Gly) c.7544A>G (p.Asp2515Gly) c.999A>G n.7630A>G | gnomAD v4 |
19 | g.38500923A>T | CA405670439 | RYR1 | c.7547A>T (p.Asp2516Val) c.7544A>T (p.Asp2515Val) c.999A>T n.7630A>T | |
19 | g.38500924C>A | CA405670440 | RYR1 | c.7548C>A (p.Asp2516Glu) c.7545C>A (p.Asp2515Glu) c.1000C>A n.7631C>A | ClinVar |
19 | g.38500924C>G | CA405670441 | RYR1 | c.7548C>G (p.Asp2516Glu) c.7545C>G (p.Asp2515Glu) c.1000C>G n.7631C>G | gnomAD v4 |
19 | g.38500924C>T | CA507354070 | RYR1 | c.7548C>T (p.Asp2516=) c.7545C>T (p.Asp2515=) c.1000C>T n.7631C>T | gnomAD v4 |
19 | g.38500925T>A | CA405670442 | RYR1 | c.7549T>A (p.Phe2517Ile) c.7546T>A (p.Phe2516Ile) c.1001T>A n.7632T>A | |
19 | g.38500925T>C | CA405670443 | RYR1 | c.7549T>C (p.Phe2517Leu) c.7546T>C (p.Phe2516Leu) c.1001T>C n.7632T>C | |
19 | g.38500925T>G | CA405670444 | RYR1 | c.7549T>G (p.Phe2517Val) c.7546T>G (p.Phe2516Val) c.1001T>G n.7632T>G | |
19 | g.38500926T>A | CA405670445 | RYR1 | c.7550T>A (p.Phe2517Tyr) c.7547T>A (p.Phe2516Tyr) c.1002T>A n.7633T>A | |
19 | g.38500926T>C | CA405670446 | RYR1 | c.7550T>C (p.Phe2517Ser) c.7547T>C (p.Phe2516Ser) c.1002T>C n.7633T>C | |
19 | g.38500926T>G | CA405670447 | RYR1 | c.7550T>G (p.Phe2517Cys) c.7547T>G (p.Phe2516Cys) c.1002T>G n.7633T>G | |
19 | g.38500927C>A | CA405670448 | RYR1 | c.7551C>A (p.Phe2517Leu) c.7548C>A (p.Phe2516Leu) c.1003C>A n.7634C>A | COSMIC |
19 | g.38500927C>G | CA405670449 | RYR1 | c.7551C>G (p.Phe2517Leu) c.7548C>G (p.Phe2516Leu) c.1003C>G n.7634C>G | |
19 | g.38500927C>T | CA507354074 | RYR1 | c.7551C>T (p.Phe2517=) c.7548C>T (p.Phe2516=) c.1003C>T n.7634C>T | |
19 | g.38500928T>A | CA405670451 | RYR1 | c.7552T>A (p.Leu2518Met) c.7549T>A (p.Leu2517Met) c.1004T>A n.7635T>A | |
19 | g.38500928T>C | CA308110669 | RYR1 | c.7552T>C (p.Leu2518=) c.7549T>C (p.Leu2517=) c.1004T>C n.7635T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500928T>G | CA405670450 | RYR1 | c.7552T>G (p.Leu2518Val) c.7549T>G (p.Leu2517Val) c.1004T>G n.7635T>G | |
19 | g.38500928T= | CA2335053503 | RYR1 | c.7552T= (p.Leu2518=) c.7549T= (p.Leu2517=) c.1004T= n.7635T= | |
19 | g.38500929T>A | CA405670452 | RYR1 | c.7553T>A (p.Leu2518Ter) c.7550T>A (p.Leu2517Ter) c.1005T>A n.7636T>A | |
19 | g.38500929T>C | CA405670453 | RYR1 | c.7553T>C (p.Leu2518Ser) c.7550T>C (p.Leu2517Ser) c.1005T>C n.7636T>C | |
19 | g.38500929T>G | CA405670454 | RYR1 | c.7553T>G (p.Leu2518Trp) c.7550T>G (p.Leu2517Trp) c.1005T>G n.7636T>G | |
19 | g.38500930G>A | CA507354077 | RYR1 | c.7554G>A (p.Leu2518=) c.7551G>A (p.Leu2517=) c.1006G>A n.7637G>A | |
19 | g.38500930G>C | CA405670455 | RYR1 | c.7554G>C (p.Leu2518Phe) c.7551G>C (p.Leu2517Phe) c.1006G>C n.7637G>C | |
19 | g.38500930G>T | CA405670456 | RYR1 | c.7554G>T (p.Leu2518Phe) c.7551G>T (p.Leu2517Phe) c.1006G>T n.7637G>T | |
19 | g.38500931C>A | CA405670457 | RYR1 | c.7555C>A (p.Leu2519Met) c.7552C>A (p.Leu2518Met) c.1007C>A n.7638C>A | |
19 | g.38500931C>G | CA405670458 | RYR1 | c.7555C>G (p.Leu2519Val) c.7552C>G (p.Leu2518Val) c.1007C>G n.7638C>G | |
19 | g.38500931C>T | CA507354079 | RYR1 | c.7555C>T (p.Leu2519=) c.7552C>T (p.Leu2518=) c.1007C>T n.7638C>T | ClinVar dbSNP gnomAD v4 |
19 | g.38500932T>A | CA405670459 | RYR1 | c.7556T>A (p.Leu2519Gln) c.7553T>A (p.Leu2518Gln) c.1008T>A n.7639T>A | |
19 | g.38500932T>C | CA405670460 | RYR1 | c.7556T>C (p.Leu2519Pro) c.7553T>C (p.Leu2518Pro) c.1008T>C n.7639T>C | |
19 | g.38500932T>G | CA405670461 | RYR1 | c.7556T>G (p.Leu2519Arg) c.7553T>G (p.Leu2518Arg) c.1008T>G n.7639T>G | |
19 | g.38500933G>A | CA507354080 | RYR1 | c.7557G>A (p.Leu2519=) c.7554G>A (p.Leu2518=) c.1009G>A n.7640G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500933G>C | CA507354081 | RYR1 | c.7557G>C (p.Leu2519=) c.7554G>C (p.Leu2518=) c.1009G>C n.7640G>C | |
19 | g.38500933G= | CA2335053504 | RYR1 | c.7557G= (p.Leu2519=) c.7554G= (p.Leu2518=) c.1009G= n.7640G= | |
19 | g.38500933G>T | CA507354082 | RYR1 | c.7557G>T (p.Leu2519=) c.7554G>T (p.Leu2518=) c.1009G>T n.7640G>T | dbSNP |
19 | g.38500934C>A | CA405670462 | RYR1 | c.7558C>A (p.His2520Asn) c.7555C>A (p.His2519Asn) c.1010C>A n.7641C>A | |
19 | g.38500934C>G | CA405670463 | RYR1 | c.7558C>G (p.His2520Asp) c.7555C>G (p.His2519Asp) c.1010C>G n.7641C>G | |
19 | g.38500934C>T | CA405670464 | RYR1 | c.7558C>T (p.His2520Tyr) c.7555C>T (p.His2519Tyr) c.1010C>T n.7641C>T | |
19 | g.38500935A>C | CA405670465 | RYR1 | c.7559A>C (p.His2520Pro) c.7556A>C (p.His2519Pro) c.1011A>C n.7642A>C | |
19 | g.38500935A>G | CA405670467 | RYR1 | c.7559A>G (p.His2520Arg) c.7556A>G (p.His2519Arg) c.1011A>G n.7642A>G | ClinVar gnomAD v4 |
19 | g.38500935A>T | CA405670466 | RYR1 | c.7559A>T (p.His2520Leu) c.7556A>T (p.His2519Leu) c.1011A>T n.7642A>T | |
19 | g.38500936C>A | CA405670468 | RYR1 | c.7560C>A (p.His2520Gln) c.7557C>A (p.His2519Gln) c.1012C>A n.7643C>A | |
19 | g.38500936C= | CA2335053505 | RYR1 | c.7560C= (p.His2520=) c.7557C= (p.His2519=) c.1012C= n.7643C= | |
19 | g.38500936C>G | CA405670469 | RYR1 | c.7560C>G (p.His2520Gln) c.7557C>G (p.His2519Gln) c.1012C>G n.7643C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500936C>T | CA069762 | RYR1 | c.7560C>T (p.His2520=) c.7557C>T (p.His2519=) c.1012C>T n.7643C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500937G>A | CA069766 | RYR1 | c.7561G>A (p.Val2521Met) c.7558G>A (p.Val2520Met) c.1013G>A n.7644G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500937G>C | CA405670470 | RYR1 | c.7561G>C (p.Val2521Leu) c.7558G>C (p.Val2520Leu) c.1013G>C n.7644G>C | |
19 | g.38500937G= | CA2335053506 | RYR1 | c.7561G= (p.Val2521=) c.7558G= (p.Val2520=) c.1013G= n.7644G= | |
19 | g.38500937G>T | CA405670471 | RYR1 | c.7561G>T (p.Val2521Leu) c.7558G>T (p.Val2520Leu) c.1013G>T n.7644G>T | dbSNP |
19 | g.38500938T>A | CA405670472 | RYR1 | c.7562T>A (p.Val2521Glu) c.7559T>A (p.Val2520Glu) c.1014T>A n.7645T>A | |
19 | g.38500938T>C | CA405670473 | RYR1 | c.7562T>C (p.Val2521Ala) c.7559T>C (p.Val2520Ala) c.1014T>C n.7645T>C | |
19 | g.38500938T>G | CA405670474 | RYR1 | c.7562T>G (p.Val2521Gly) c.7559T>G (p.Val2520Gly) c.1014T>G n.7645T>G | |
19 | g.38500939G>A | CA507354087 | RYR1 | c.7563G>A (p.Val2521=) c.7560G>A (p.Val2520=) c.1015G>A n.7646G>A | |
19 | g.38500939G>C | CA507354088 | RYR1 | c.7563G>C (p.Val2521=) c.7560G>C (p.Val2520=) c.1015G>C n.7646G>C | |
19 | g.38500939G>T | CA507354089 | RYR1 | c.7563G>T (p.Val2521=) c.7560G>T (p.Val2520=) c.1015G>T n.7646G>T | |
19 | g.38500940C>A | CA405670475 | RYR1 | c.7564C>A (p.Leu2522Met) c.7561C>A (p.Leu2521Met) c.1016C>A n.7647C>A | |
19 | g.38500940C>G | CA405670476 | RYR1 | c.7564C>G (p.Leu2522Val) c.7561C>G (p.Leu2521Val) c.1016C>G n.7647C>G | |
19 | g.38500940C>T | CA507354090 | RYR1 | c.7564C>T (p.Leu2522=) c.7561C>T (p.Leu2521=) c.1016C>T n.7647C>T | |
19 | g.38500941T>A | CA405670479 | RYR1 | c.7565T>A (p.Leu2522Gln) c.7562T>A (p.Leu2521Gln) c.1017T>A n.7648T>A | |
19 | g.38500941T>C | CA405670478 | RYR1 | c.7565T>C (p.Leu2522Pro) c.7562T>C (p.Leu2521Pro) c.1017T>C n.7648T>C | |
19 | g.38500941T>G | CA405670477 | RYR1 | c.7565T>G (p.Leu2522Arg) c.7562T>G (p.Leu2521Arg) c.1017T>G n.7648T>G | |
19 | g.38500942G>A | CA507354092 | RYR1 | c.7566G>A (p.Leu2522=) c.7563G>A (p.Leu2521=) c.1018G>A n.7649G>A | COSMIC |
19 | g.38500942G>C | CA507354093 | RYR1 | c.7566G>C (p.Leu2522=) c.7563G>C (p.Leu2521=) c.1018G>C n.7649G>C | |
19 | g.38500942G>T | CA507354094 | RYR1 | c.7566G>T (p.Leu2522=) c.7563G>T (p.Leu2521=) c.1018G>T n.7649G>T | |
19 | g.38500943G>A | CA405670481 | RYR1 | c.7567G>A (p.Asp2523Asn) c.7564G>A (p.Asp2522Asn) c.1019G>A n.7650G>A | |
19 | g.38500943G>C | CA405670483 | RYR1 | c.7567G>C (p.Asp2523His) c.7564G>C (p.Asp2522His) c.1019G>C n.7650G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38500943G= | CA2335053507 | RYR1 | c.7567G= (p.Asp2523=) c.7564G= (p.Asp2522=) c.1019G= n.7650G= | |
19 | g.38500943G>T | CA405670484 | RYR1 | c.7567G>T (p.Asp2523Tyr) c.7564G>T (p.Asp2522Tyr) c.1019G>T n.7650G>T | |
19 | g.38500944A>C | CA405670486 | RYR1 | c.7568A>C (p.Asp2523Ala) c.7565A>C (p.Asp2522Ala) c.1020A>C n.7651A>C | |
19 | g.38500944A>G | CA405670487 | RYR1 | c.7568A>G (p.Asp2523Gly) c.7565A>G (p.Asp2522Gly) c.1020A>G n.7651A>G | COSMIC |
19 | g.38500944A>T | CA405670489 | RYR1 | c.7568A>T (p.Asp2523Val) c.7565A>T (p.Asp2522Val) c.1020A>T n.7651A>T | |
19 | g.38500945C>A | CA405670490 | RYR1 | c.7569C>A (p.Asp2523Glu) c.7566C>A (p.Asp2522Glu) c.1021C>A n.7652C>A | |
19 | g.38500945C= | CA2335053508 | RYR1 | c.7569C= (p.Asp2523=) c.7566C= (p.Asp2522=) c.1021C= n.7652C= | |
19 | g.38500945C>G | CA405670491 | RYR1 | c.7569C>G (p.Asp2523Glu) c.7566C>G (p.Asp2522Glu) c.1021C>G n.7652C>G | ClinVar gnomAD v4 |
19 | g.38500945C>T | CA069770 | RYR1 | c.7569C>T (p.Asp2523=) c.7566C>T (p.Asp2522=) c.1021C>T n.7652C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38500946G>A | CA405670493 | RYR1 | c.7570G>A (p.Val2524Met) c.7567G>A (p.Val2523Met) c.1022G>A n.7653G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.38500946G>C | CA405670494 | RYR1 | c.7570G>C (p.Val2524Leu) c.7567G>C (p.Val2523Leu) c.1022G>C n.7653G>C | dbSNP COSMIC |
19 | g.38500946G= | CA2335053509 | RYR1 | c.7570G= (p.Val2524=) c.7567G= (p.Val2523=) c.1022G= n.7653G= | |
19 | g.38500946G>T | CA405670495 | RYR1 | c.7570G>T (p.Val2524Leu) c.7567G>T (p.Val2523Leu) c.1022G>T n.7653G>T | |
19 | g.38500947T>A | CA405670497 | RYR1 | c.7571T>A (p.Val2524Glu) c.7568T>A (p.Val2523Glu) c.1023T>A n.7654T>A | |
19 | g.38500947T>C | CA405670499 | RYR1 | c.7571T>C (p.Val2524Ala) c.7568T>C (p.Val2523Ala) c.1023T>C n.7654T>C | gnomAD v4 |
19 | g.38500947T>G | CA405670496 | RYR1 | c.7571T>G (p.Val2524Gly) c.7568T>G (p.Val2523Gly) c.1023T>G n.7654T>G | |
19 | g.38500948G>A | CA507354099 | RYR1 | c.7572G>A (p.Val2524=) c.7569G>A (p.Val2523=) c.1024G>A n.7655G>A | gnomAD v4 |
19 | g.38500948G>C | CA507354100 | RYR1 | c.7572G>C (p.Val2524=) c.7569G>C (p.Val2523=) c.1024G>C n.7655G>C | |
19 | g.38500948G>T | CA507354098 | RYR1 | c.7572G>T (p.Val2524=) c.7569G>T (p.Val2523=) c.1024G>T n.7655G>T | |
19 | g.38500949G>A | CA405670500 | RYR1 | c.7573G>A (p.Gly2525Arg) c.7570G>A (p.Gly2524Arg) c.1025G>A n.7656G>A | |
19 | g.38500949G>C | CA405670502 | RYR1 | c.7573G>C (p.Gly2525Arg) c.7570G>C (p.Gly2524Arg) c.1025G>C n.7656G>C | |
19 | g.38500949G>T | CA405670503 | RYR1 | c.7573G>T (p.Gly2525Trp) c.7570G>T (p.Gly2524Trp) c.1025G>T n.7656G>T | |
19 | g.38500950G>A | CA405670505 | RYR1 | c.7574G>A (p.Gly2525Glu) c.7571G>A (p.Gly2524Glu) c.1026G>A n.7657G>A | |
19 | g.38500950G>C | CA405670507 | RYR1 | c.7574G>C (p.Gly2525Ala) c.7571G>C (p.Gly2524Ala) c.1026G>C n.7657G>C | |
19 | g.38500950G>T | CA405670508 | RYR1 | c.7574G>T (p.Gly2525Val) c.7571G>T (p.Gly2524Val) c.1026G>T n.7657G>T | |
19 | g.38500951G>A | CA507354105 | RYR1 | c.7575G>A (p.Gly2525=) c.7572G>A (p.Gly2524=) c.1027G>A n.7658G>A | |
19 | g.38500951G>C | CA507354104 | RYR1 | c.7575G>C (p.Gly2525=) c.7572G>C (p.Gly2524=) c.1027G>C n.7658G>C | |
19 | g.38500951G>T | CA507354103 | RYR1 | c.7575G>T (p.Gly2525=) c.7572G>T (p.Gly2524=) c.1027G>T n.7658G>T | |
19 | g.38500952T>A | CA405670510 | RYR1 | c.7576T>A (p.Phe2526Ile) c.7573T>A (p.Phe2525Ile) c.1028T>A n.7659T>A | |
19 | g.38500952T>C | CA405670512 | RYR1 | c.7576T>C (p.Phe2526Leu) c.7573T>C (p.Phe2525Leu) c.1028T>C n.7659T>C | dbSNP |
19 | g.38500952T>G | CA405670513 | RYR1 | c.7576T>G (p.Phe2526Val) c.7573T>G (p.Phe2525Val) c.1028T>G n.7659T>G | |
19 | g.38500952T= | CA2335053510 | RYR1 | c.7576T= (p.Phe2526=) c.7573T= (p.Phe2525=) c.1028T= n.7659T= | |
19 | g.38500953T>A | CA405670515 | RYR1 | c.7577T>A (p.Phe2526Tyr) c.7574T>A (p.Phe2525Tyr) c.1029T>A n.7660T>A | |
19 | g.38500953T>C | CA405670517 | RYR1 | c.7577T>C (p.Phe2526Ser) c.7574T>C (p.Phe2525Ser) c.1029T>C n.7660T>C | |
19 | g.38500953T>G | CA405670518 | RYR1 | c.7577T>G (p.Phe2526Cys) c.7574T>G (p.Phe2525Cys) c.1029T>G n.7660T>G | |
19 | g.38500954C>A | CA405670519 | RYR1 | c.7578C>A (p.Phe2526Leu) c.7575C>A (p.Phe2525Leu) c.1030C>A n.7661C>A | |
19 | g.38500954C>G | CA405670520 | RYR1 | c.7578C>G (p.Phe2526Leu) c.7575C>G (p.Phe2525Leu) c.1030C>G n.7661C>G | |
19 | g.38500954C>T | CA507354106 | RYR1 | c.7578C>T (p.Phe2526=) c.7575C>T (p.Phe2525=) c.1030C>T n.7661C>T | |
19 | g.38500955C>A | CA405670523 | RYR1 | c.7579C>A (p.Leu2527Met) c.7576C>A (p.Leu2526Met) c.1031C>A n.7662C>A | |
19 | g.38500955C>G | CA405670522 | RYR1 | c.7579C>G (p.Leu2527Val) c.7576C>G (p.Leu2526Val) c.1031C>G n.7662C>G | |
19 | g.38500955C>T | CA507354107 | RYR1 | c.7579C>T (p.Leu2527=) c.7576C>T (p.Leu2526=) c.1031C>T n.7662C>T |